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
MAP2	4133	broad.mit.edu	37	2	210560053	210560053	+	Silent	SNP	T	T	C			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr2:210560053T>C	ENST00000360351.4	+	7	3665	c.3159T>C	c.(3157-3159)ttT>ttC	p.F1053F	MAP2_ENST00000447185.1_Silent_p.F1049F|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1053					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTAGTGACTTTGGACAGATGG	0.468000													52	85					0	0	1	0	0
SERPINB11	89778	broad.mit.edu	37	18	61377583	61377583	+	RNA	SNP	G	G	A			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr18:61377583G>A	ENST00000544088.1	+	0	218				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000489748.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				AGACTGAAGAGCAATTGGAGA	0.438000													6	36					0	0	1	0	0
DCAF4L1	285429	broad.mit.edu	37	4	41984364	41984364	+	Silent	SNP	C	C	A			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr4:41984364C>A	ENST00000333141.5	+	1	652	c.555C>A	c.(553-555)gcC>gcA	p.A185A		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	185										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TCCCAGAGGCCTGGTCCTGTG	0.587000													14	135					1.52009e-12	1.57639e-12	1	1	0
WDR78	79819	broad.mit.edu	37	1	67370972	67370972	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr1:67370972T>C	ENST00000371026.3	-	2	312	c.257A>G	c.(256-258)cAa>cGa	p.Q86R	WDR78_ENST00000371023.3_Missense_Mutation_p.Q86R|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371022.3_Missense_Mutation_p.Q86R|WDR78_ENST00000488333.1_Missense_Mutation_p.Q14R	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	86										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CATTCTGCTTTGATTTGCACC	0.353000													6	111					0	0	1	0	0
TSSC2	650368	broad.mit.edu	37	11	3427845	3427845	+	RNA	SNP	C	C	T			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr11:3427845C>T	ENST00000529482.1	+	0	962																											CTTCAAGTGGCAGGAGCAGAA	0.587000													4	48					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76939496	76939496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chrX:76939496G>A	ENST00000373344.5	-	9	1466	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R380*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	418					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)	TCCATCGCTCGAAACTCGGAA	0.373000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						47	136					0	0	1	0	0
UBR2	23304	broad.mit.edu	37	6	42631096	42631096	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr6:42631096T>C	ENST00000372899.1	+	32	3895	c.3637T>C	c.(3637-3639)Tgt>Cgt	p.C1213R	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.C1213R	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1213					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTGCCCCCTTTGTGAATGCTT	0.378000													22	65					0	0	1	0	0
PCLO	27445	broad.mit.edu	37	7	82584494	82584494	+	Silent	SNP	T	T	C			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr7:82584494T>C	ENST00000333891.9	-	5	6112	c.5775A>G	c.(5773-5775)acA>acG	p.T1925T	PCLO_ENST00000423517.2_Silent_p.T1925T	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTATTTGTGTGTTTTATGCA	0.358000													18	23					0	0	1	0	0
IL27	246778	broad.mit.edu	37	16	28513350	28513350	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr16:28513350G>C	ENST00000356897.1	-	4	431	c.409C>G	c.(409-411)Ctg>Gtg	p.L137V		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	137					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						ATGGCCCACAGCTGCATCCTC	0.662000													6	64					0	0	1	0	0
CLIP4	79745	broad.mit.edu	37	2	29355042	29355042	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr2:29355042A>G	ENST00000320081.5	+	4	553	c.298A>G	c.(298-300)Aat>Gat	p.N100D	CLIP4_ENST00000401605.1_Missense_Mutation_p.N100D|CLIP4_ENST00000404424.1_Missense_Mutation_p.N100D|CLIP4_ENST00000401617.2_5'UTR	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	100										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TTGCAATGTGAATGATAGAGA	0.378000													8	105					0	0	1	0	0
CSPG4	1464	broad.mit.edu	37	15	75975277	75975277	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr15:75975277C>T	ENST00000308508.5	-	6	4647	c.4555G>A	c.(4555-4557)Ggg>Agg	p.G1519R		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1519	Gly/Ser-rich (glycosaminoglycan attachment domain).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACTACCCGCCCGTTGCTGGGC	0.697000													7	25					0	0	1	0	0
CPSF1	29894	broad.mit.edu	37	8	145619157	145619157	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr8:145619157G>A	ENST00000349769.3	-	35	4050	c.3956C>T	c.(3955-3957)gCc>gTc	p.A1319V	CPSF1_ENST00000531727.1_5'UTR	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1319					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCCTTCAGTGGCCCCCCGGCA	0.632000													3	28					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	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	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.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								18	54					0	0	1	0	0
CLTCL1	8218	broad.mit.edu	37	22	19197859	19197859	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr22:19197859C>A	ENST00000263200.10	-	20	3298	c.3226G>T	c.(3226-3228)Gat>Tat	p.D1076Y	CLTCL1_ENST00000353891.5_Missense_Mutation_p.D1076Y|CLTCL1_ENST00000427926.1_Missense_Mutation_p.D1076Y	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1076	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GCATTCATATCAAACTTGTGG	0.552000			T	?	ALCL								7	72					5.18039e-06	5.18039e-06	1	1	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	rs28934574		TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		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.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(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)		TCTGTGCGCCGGTCTCTCCCA	0.557000		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)			34	19					0	0	1	0	0
EMR1	2015	broad.mit.edu	37	19	6926465	6926465	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr19:6926465T>C	ENST00000312053.4	+	16	2112	c.2075T>C	c.(2074-2076)tTg>tCg	p.L692S	EMR1_ENST00000381407.5_Missense_Mutation_p.L551S|EMR1_ENST00000450315.3_Missense_Mutation_p.L515S|EMR1_ENST00000250572.8_Missense_Mutation_p.L627S|EMR1_ENST00000381404.4_Missense_Mutation_p.L640S	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	692					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATACTGTTCTTGATGGTCAGA	0.537000													10	80					0	0	1	0	0
CLCN4	1183	broad.mit.edu	37	X	10180553	10180553	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chrX:10180553C>T	ENST00000380833.4	+	10	1827	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V	CLCN4_ENST00000421085.2_Missense_Mutation_p.A385V|CLCN4_ENST00000380829.1_Missense_Mutation_p.A448V	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	479						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGCGCGATAGCGGGCAGGATG	0.577000													5	43					0	0	1	0	0
ATRX	546	broad.mit.edu	37	X	76849194	76849194	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chrX:76849194G>A	ENST00000373344.5	-	26	6296	c.6082C>T	c.(6082-6084)Cga>Tga	p.R2028*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1990*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2028	Helicase C-terminal.				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)	TCTGCCATTCGAAGAATTTCA	0.338000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						14	43					0	0	1	0	0
OR5P2	120065	broad.mit.edu	37	11	7817817	7817817	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr11:7817817G>A	ENST00000329434.2	-	1	703	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R225C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCAGTGGAGCGCATCTTCAGG	0.493000													17	57					0	0	1	0	0
LAMP1	3916	broad.mit.edu	37	13	113960856	113960856	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr13:113960856G>A	ENST00000332556.4	+	2	312	c.118G>A	c.(118-120)Gcg>Acg	p.A40T	LAMP1_ENST00000397181.3_Missense_Mutation_p.A40T	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	40	First lumenal domain.			VKNGNGTA -> MARGGRVR (in Ref. 6; AAA59524).		endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CAACGGGACCGCGTGCATAAT	0.507000													38	81					0	0	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414340	20414340	+	Silent	SNP	G	G	A			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr9:20414340G>A	ENST00000380338.4	-	5	790	c.504C>T	c.(502-504)agC>agT	p.S168S	MLLT3_ENST00000429426.2_Silent_p.S165S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	168	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S168S(5)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctgctactgctgc	0.537000			T	MLL	ALL								6	53					0	0	1	0	0
PCSK9	255738	broad.mit.edu	37	1	55505552	55505553	+	In_Frame_Ins	INS	-	-	CTG	rs35574083		TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr1:55505552_55505553insCTG	ENST00000302118.5	+	1	332_333	c.42_43insCTG	c.(43-45)ctg>CTGctg	p.15_15L>LL	PCSK9_ENST00000452118.2_In_Frame_Ins_p.15_15L>LL	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	15					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.P14_L15insL(2)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						Ggccgctgccactgctgctgct	0.703													3	4	---	---	---	---					
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr1:248801602_248801603insCA	ENST00000317450.3	-	1	956_957	c.957_958insTG	c.(955-960)gtgatcfs	p.I320fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	320					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I320fs*1(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CCCTTCCTGATCACAGTCGCCA	0.545													2	4	---	---	---	---					
AC016995.3	0	broad.mit.edu	37	2	38710017	38710019	+	RNA	DEL	AAT	AAT	-	rs2005502	by1000genomes	TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr2:38710017_38710019delAAT	ENST00000417039.1	-	0	696																											TTCTTtaaaaaataaataaataa	0.246													3	6	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142481743	142481745	+	RNA	DEL	CTA	CTA	-			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr7:142481743_142481745delCTA	ENST00000603901.1	+	0	454					NR_001296.3																						ACCCACATTTCTACTTTCTTTAT	0.517													8	165	---	---	---	---					
PRSS3P2	154754	broad.mit.edu	37	7	142482280	142482280	+	RNA	DEL	T	T	-			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr7:142482280delT	ENST00000603901.1	+	0	660					NR_001296.3																						GCTATGGCTGTGCCCAGAAGA	0.517													8	82	---	---	---	---					
LOC441666	441666	broad.mit.edu	37	10	42832502	42832503	+	RNA	INS	-	-	TATCA			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr10:42832502_42832503insTATCA	ENST00000609841.1	-	0	1400_1401					NR_024380.1																						CCCCTATCAATTATGTTTAGTA	0.366													3	5	---	---	---	---					
PSMA3-AS1	379025	broad.mit.edu	37	14	58752042	58752053	+	RNA	DEL	GAAGAGGATGAG	GAAGAGGATGAG	-	rs112158888		TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr14:58752042_58752053delGAAGAGGATGAG	ENST00000554360.1	-	0	414				RP11-349A22.5_ENST00000557660.1_RNA|RP11-349A22.5_ENST00000556400.1_RNA|RP11-349A22.5_ENST00000555707.1_RNA|RP11-349A22.5_ENST00000555275.1_RNA|RP11-349A22.5_ENST00000553657.1_RNA|RP11-349A22.5_ENST00000554378.1_RNA|RP11-349A22.5_ENST00000556002.1_RNA	NR_029434.1																						Tgagaaagatgaagaggatgaggaagaggatg	0.392													7	5	---	---	---	---					
TPTE	7179	broad.mit.edu	37	21	10944697	10944697	+	Frame_Shift_Del	DEL	A	A	-			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr21:10944697delA	ENST00000298232.7	-	10	850	c.483delT	c.(481-483)tttfs	p.F161fs	TPTE_ENST00000342420.5_Frame_Shift_Del_p.F141fs|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Frame_Shift_Del_p.F179fs	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	179					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTTAATGTCAAAAAAAATGT	0.299													7	229	---	---	---	---					
TRIOBP	11078	broad.mit.edu	37	22	38119882	38119884	+	In_Frame_Del	DEL	CCT	CCT	-			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr22:38119882_38119884delCCT	ENST00000406386.3	+	7	1574_1576	c.1319_1321delCCT	c.(1318-1323)gcctcc>gcc	p.S442del		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	442					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					AATCCCAGAGCCTCCTCTCCCAG	0.601													7	126	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76855019	76855019	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chrX:76855019delT	ENST00000373344.5	-	25	6031	c.5817delA	c.(5815-5817)aaafs	p.K1939fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1901fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1939	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)	AGCTACTATCTTTTTTCCCCT	0.353			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						61	242	---	---	---	---					
