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
NUP133	55746	broad.mit.edu	37	1	229593964	229593964	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr1:229593964T>C	ENST00000261396.3	-	21	3015	c.2924A>G	c.(2923-2925)aAa>aGa	p.K975R	NUP133_ENST00000366679.1_Missense_Mutation_p.K904R|NUP133_ENST00000537506.1_Missense_Mutation_p.K959R	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	975					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TGCAGCCAATTTACTCAAGCC	0.368000													21	40					0	0	1	0	0
CCDC9	26093	broad.mit.edu	37	19	47764023	47764023	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr19:47764023G>A	ENST00000221922.6	+	5	611	c.389G>A	c.(388-390)cGg>cAg	p.R130Q		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	130	Gly-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GGCCGTGGCCGGAGGGGCCGG	0.706000													17	21					0	0	1	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000225576.3_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													5	114					0	0	1	0	0
HAS2	3037	broad.mit.edu	37	8	122626810	122626810	+	Missense_Mutation	SNP	G	G	A	rs148429340	by1000genomes	TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr8:122626810G>A	ENST00000303924.4	-	4	1735	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	400						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			ATTTTACCCCGGTAGAAGAGC	0.408000													4	208					0	0	1	0	0
ETAA1	54465	broad.mit.edu	37	2	67631709	67631709	+	Missense_Mutation	SNP	C	C	T			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr2:67631709C>T	ENST00000272342.5	+	5	2025	c.1895C>T	c.(1894-1896)aCa>aTa	p.T632I	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	632						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GACAGTAAGACATCAGAAAGT	0.363000													44	125					0	0	1	0	0
HHIPL2	79802	broad.mit.edu	37	1	222717332	222717332	+	Missense_Mutation	SNP	A	A	T			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr1:222717332A>T	ENST00000343410.6	-	2	579	c.521T>A	c.(520-522)cTt>cAt	p.L174H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	174					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CTTGTCAGGAAGGTCCAGGAG	0.577000													4	71					0	0	1	0	0
VSIG4	11326	broad.mit.edu	37	X	65252309	65252309	+	Splice_Site	SNP	C	C	A			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chrX:65252309C>A	ENST00000455586.2	-	3	821		c.e3+1		VSIG4_ENST00000412866.2_Intron|VSIG4_ENST00000374737.4_Splice_Site	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4						complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGCCGCTCACCTTTGACCAC	0.507000													4	30					0.00909568	0.00909568	1	1	0
PKN1	5585	broad.mit.edu	37	19	14581115	14581115	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr19:14581115G>A	ENST00000242783.6	+	19	2599	c.2434G>A	c.(2434-2436)Gag>Aag	p.E812K	PKN1_ENST00000342216.4_Missense_Mutation_p.E818K	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	812	Protein kinase.			E -> G (in Ref. 3; BAG36611).	activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GCTGGTTGGCGAGGTGAGACC	0.627000													11	28					0	0	1	0	0
SMTNL2	342527	broad.mit.edu	37	17	4510712	4510712	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr17:4510712G>A	ENST00000389313.4	+	8	1383	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	SMTNL2_ENST00000338859.4_Missense_Mutation_p.R295H	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	439	CH.									breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		GTGATGGGCCGCAAGCCGGAC	0.582000													5	214					0	0	1	0	0
IGHG4	0	broad.mit.edu	37	14	106092260	106092260	+	RNA	SNP	G	G	A			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr14:106092260G>A	ENST00000390543.2	-	0	143																											TGTGCACGCCGCTGGTCAGGG	0.652000													9	46					0	0	1	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	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													5	31					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	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								20	38					0	0	1	0	0
CSTF1	1477	broad.mit.edu	37	20	54972798	54972798	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr20:54972798C>G	ENST00000217109.4	+	4	898	c.546C>G	c.(544-546)caC>caG	p.H182Q	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	182					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TTGCTTTCCACCCAACAGAAC	0.408000													3	95					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578280	7578280	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr17:7578280G>A	ENST00000420246.2	-	6	701	c.569C>T	c.(568-570)cCt>cTt	p.P190L	TP53_ENST00000413465.2_Missense_Mutation_p.P190L|TP53_ENST00000445888.2_Missense_Mutation_p.P190L|TP53_ENST00000359597.4_Missense_Mutation_p.P190L|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.P190L|TP53_ENST00000269305.4_Missense_Mutation_p.P190L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	190	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P190L(21)|p.0?(8)|p.?(7)|p.P190fs*57(6)|p.P190del(6)|p.A189_V197delAPPQHLIRV(4)|p.P190R(2)|p.G187fs*16(2)|p.P190F(2)|p.D186_P191delDGLAPP(1)|p.P190H(1)|p.P58fs*>33(1)|p.P191fs*18(1)|p.A189_Q192>E(1)|p.L188_P191del(1)|p.A189_P190>X(1)|p.P97fs*57(1)|p.A189fs*53(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)		ATGCTGAGGAGGGGCCAGACC	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			24	25					0	0	1	0	0
DNAH1	25981	broad.mit.edu	37	3	52426901	52426901	+	Missense_Mutation	SNP	A	A	G			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr3:52426901A>G	ENST00000420323.2	+	65	10595	c.10334A>G	c.(10333-10335)gAg>gGg	p.E3445G		NM_015512.4	NP_056327.4	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3510	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement|response to mechanical stimulus	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ACGCGCATGGAGTACATACCC	0.577000													4	122					0	0	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90162340	90162340	+	RNA	SNP	C	C	T	rs138169571	by1000genomes	TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr16:90162340C>T	ENST00000564451.1	+	0	1693				TUBB8P7_ENST00000567960.1_RNA														p.R358W(1)									CATCCCACTCCGGGGGCTAAA	0.478000													4	122					0	0	1	0	0
MYOCD	93649	broad.mit.edu	37	17	12626238	12626238	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr17:12626238G>A	ENST00000425538.1	+	5	528	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	MYOCD_ENST00000395988.1_Missense_Mutation_p.E14K|MYOCD_ENST00000343344.4_Missense_Mutation_p.E110K	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	110					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGATCTCAATGAAAAAATTGC	0.453000													5	189					0	0	1	0	0
TNC	3371	broad.mit.edu	37	9	117822018	117822018	+	Missense_Mutation	SNP	C	C	G			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr9:117822018C>G	ENST00000350763.4	-	14	4708	c.4297G>C	c.(4297-4299)Gcc>Ccc	p.A1433P	TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.A1433P|TNC_ENST00000346706.3_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.A1342P|TNC_ENST00000345230.3_Intron|TNC_ENST00000340094.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1433	Fibronectin type-III 9.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTGTGGAGGCCTCAGCAGAG	0.552000													76	174					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													5	77					0	0	1	0	0
HYAL1	3373	broad.mit.edu	37	3	50339946	50339946	+	Missense_Mutation	SNP	G	G	A			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr3:50339946G>A	ENST00000266031.4	-	1	1057	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	HYAL1_ENST00000395143.2_Missense_Mutation_p.R148W|HYAL1_ENST00000457214.2_5'UTR|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000320295.8_Missense_Mutation_p.R148W|HYAL1_ENST00000395144.2_Missense_Mutation_p.R148W			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	148						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	GAGCGCTGCCGGTAAATGTCC	0.642000													4	170					0	0	1	0	0
RRN3P2	0	broad.mit.edu	37	16	29110458	29110458	+	RNA	SNP	T	T	C	rs151074589	by1000genomes	TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr16:29110458T>C	ENST00000564580.1	+	0	1131																		p.W375R(25)									GAATTTTGAGTGGATAGTGAT	0.328000													4	32					0	0	1	0	0
LNX1	84708	broad.mit.edu	37	4	54364953	54364953	+	Missense_Mutation	SNP	T	T	C			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr4:54364953T>C	ENST00000306888.2	-	4	796	c.545A>G	c.(544-546)aAt>aGt	p.N182S	LNX1_ENST00000263925.7_Missense_Mutation_p.N278S|LNX1-AS1_ENST00000502373.1_RNA|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	278						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ATCTACTCGATTGATCTTGAT	0.448000													26	38					0	0	1	0	0
RPTN	126638	broad.mit.edu	37	1	152127881	152127884	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr1:152127881_152127884delTGTC	ENST00000316073.3	-	3	1755_1758	c.1691_1694delGACA	c.(1690-1695)aafs	p.RQ564fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	564	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCTCTGGCCTTGTCTGTCTGTCTG	0.485													7	960	---	---	---	---					
FIP1L1	81608	broad.mit.edu	37	4	54319248	54319249	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr4:54319248_54319249delAG	ENST00000337488.6	+	16	1641_1642	c.1447_1448delAG	c.(1447-1449)afs	p.R483fs	FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.R477fs|FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.R409fs	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	483	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing	nucleus	RNA binding	p.R487fs*3(2)		large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			agaACGCACCAGAGAGAGAGAG	0.470			T	PDGFRA	idiopathic hypereosinophilic syndrome								8	71	---	---	---	---					
HLA-DRB6	0	broad.mit.edu	37	6	32522756	32522756	+	RNA	DEL	A	A	-			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr6:32522756delA	ENST00000411500.1	-	0	458					NR_001298.1																						GGACTAGGAGAAAAAAAGGTA	0.517													9	31	---	---	---	---					
CWF19L2	143884	broad.mit.edu	37	11	107312278	107312278	+	Frame_Shift_Del	DEL	T	T	-			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr11:107312278delT	ENST00000282251.5	-	5	548	c.521delA	c.(520-522)agfs	p.K174fs	CWF19L2_ENST00000433523.1_Frame_Shift_Del_p.K174fs	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	174							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CATAGTTTCCTTTTCAGCTTT	0.318													2	4	---	---	---	---					
TPTE2P6	0	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs144668552	by1000genomes	TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554																											AAAATGGGAGGTTTTTTTAGGG	0.411													7	13	---	---	---	---					
TPTE2P1	0	broad.mit.edu	37	13	25527490	25527491	+	RNA	INS	-	-	AAAAAG			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr13:25527490_25527491insAAAAAG	ENST00000429698.1	-	0	282																											AGGAAGGTTCTAAAAAAAATTT	0.252													2	4	---	---	---	---					
TSC22D1	8848	broad.mit.edu	37	13	45148706	45148708	+	In_Frame_Del	DEL	TGC	TGC	-	rs112613609		TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr13:45148706_45148708delTGC	ENST00000458659.2	-	1	1993_1995	c.1503_1505delGCA	c.(1501-1506)caa>ca	p.QQ507del	TSC22D1_ENST00000501704.2_In_Frame_Del_p.QQ507del	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	507	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ttgttgttgttgctgctgctgct	0.507													8	125	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76855036	76855037	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chrX:76855036_76855037delCT	ENST00000373344.5	-	25	6013_6014	c.5799_5800delAG	c.(5797-5802)aaggfs	p.KG1933fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KG1895fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1933	Poly-Lys.				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)	CCCTTTTTCCCTTTTTTCTTCT	0.356			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						169	50	---	---	---	---					
