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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DCAF4L1	285429	broad.mit.edu	37	4	41984364	41984364	+	Silent	SNP	C	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.chr4:41984364C>A	uc003gwk.2	+	0	652	c.555C>A	c.(553-555)gcC>gcA	p.A185A		NM_001029955	NP_001025126	Q3SXM0	DC4L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 1 (DCAF4L1), mRNA.	185										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TCCCAGAGGCCTGGTCCTGTG	0.587000														135			14		1.52009e-12	1.6417e-12	0.132662	1	0
TP53	7157	broad.mit.edu	37	17	7577094	7577094	+	Missense_Mutation	SNP	G	A	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	uc002gim.2	-	7	1038	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	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).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A 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(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(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)				19			34		0	0	0.153744	0	0
WDR78	79819	broad.mit.edu	37	1	67370972	67370972	+	Missense_Mutation	SNP	T	C	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	uc001dcx.3	-	1	313	c.257A>G	c.(256-258)cAa>cGa	p.Q86R	WDR78_uc001dcy.3_Missense_Mutation_p.Q86R	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	86										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CATTCTGCTTTGATTTGCACC	0.353000														111			6		0	0	0.021553	0	0
TP53	7157	broad.mit.edu	37	17	7577544	7577544	+	Missense_Mutation	SNP	A	C	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.chr17:7577544A>C	uc002gim.2	-	6	931	c.737T>G	c.(736-738)aTg>aGg	p.M246R	TP53_uc002gig.1_Missense_Mutation_p.M246R|TP53_uc002gih.3_Missense_Mutation_p.M246R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.M114R|TP53_uc010cnf.1_Missense_Mutation_p.M114R|TP53_uc002gii.1_Missense_Mutation_p.M114R|TP53_uc010cni.1_Missense_Mutation_p.M246R|TP53_uc010cnh.1_Missense_Mutation_p.M246R|TP53_uc002gij.2_Missense_Mutation_p.M246R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.M153R|TP53_uc002gio.2_Missense_Mutation_p.M114R|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	246	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|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|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G245S(296)|p.G245D(99)|p.G245V(58)|p.G245C(51)|p.M246V(31)|p.M246I(24)|p.M246R(20)|p.M246T(17)|p.M246K(15)|p.G245R(10)|p.G245A(8)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(4)|p.G245G(3)|p.G245fs*2(3)|p.M246L(3)|p.G245N(2)|p.C238_M246delCNSSCMGGM(2)|p.M246fs*1(2)|p.G245fs*14(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*22(1)|p.M153T(1)|p.G245del(1)|p.G244_M246>V(1)|p.C242fs*98(1)|p.S241_G245delSCMGG(1)|p.G245fs*17(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)		CCTCCGGTTCATGCCGCCCAT	0.572000		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)				62			4		0	0	0.021553	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	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	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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									54			18		0	0	0.189662	0	0
LAMP1	3916	broad.mit.edu	37	13	113960856	113960856	+	Missense_Mutation	SNP	G	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.chr13:113960856G>A	uc001vtm.1	+	1	399	c.118G>A	c.(118-120)Gcg>Acg	p.A40T	LAMP1_uc010tka.1_Missense_Mutation_p.A40T	NM_005561	NP_005552	P11279	LAMP1_HUMAN	Homo sapiens lysosomal-associated membrane protein 1 (LAMP1), mRNA.	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														81			38		0	0	0.203993	0	0
TPTE	7179	broad.mit.edu	37	21	11014987	11014987	+	RNA	SNP	A	G	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.chr21:11014987A>G	uc002yis.1	-	6		c.1459T>C						P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 2, mRNA.						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)		CTATAGTTTCAATAGCAGACT	0.388000														21			3		0	0	0.115264	0	0
UBR2	23304	broad.mit.edu	37	6	42631096	42631096	+	Missense_Mutation	SNP	T	C	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	uc011dur.2	+	31	3935	c.3637T>C	c.(3637-3639)Tgt>Cgt	p.C1213R	UBR2_uc011dus.2_Missense_Mutation_p.C858R|UBR2_uc003osh.3_Non-coding_Transcript	NM_015255	NP_056070	Q8IWV8	UBR2_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 2 (UBR2), transcript variant 1, mRNA.	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														65			22		0	0	0.062417	0	0
CSPG4	1464	broad.mit.edu	37	15	75975277	75975277	+	Missense_Mutation	SNP	C	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.chr15:75975277C>T	uc002baw.3	-	5	4648	c.4555G>A	c.(4555-4557)Ggg>Agg	p.G1519R		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	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														25			7		0	0	0.029380	0	0
ATRX	546	broad.mit.edu	37	X	76939496	76939496	+	Nonsense_Mutation	SNP	G	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.chrX:76939496G>A	uc004ecp.4	-	8	1484	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	ATRX_uc004ecq.4_Nonsense_Mutation_p.R380*|ATRX_uc004eco.4_Nonsense_Mutation_p.R203*|ATRX_uc004ecr.2_Nonsense_Mutation_p.R379*|ATRX_uc010nlx.1_Nonsense_Mutation_p.R418*|ATRX_uc010nly.1_Nonsense_Mutation_p.R363*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	418					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|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							136			47		0	0	0.139131	0	0
CLIP4	79745	broad.mit.edu	37	2	29355042	29355042	+	Missense_Mutation	SNP	A	G	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	uc002rmv.3	+	3	537	c.298A>G	c.(298-300)Aat>Gat	p.N100D	CLIP4_uc002rmu.3_Missense_Mutation_p.N100D|CLIP4_uc010ezm.1_Missense_Mutation_p.N100D|CLIP4_uc002rmw.3_Non-coding_Transcript|CLIP4_uc010ymn.1_Missense_Mutation_p.N82D	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	100								p.V99A(1)		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														105			8		0	0	0.058154	0	0
CLTCL1	8218	broad.mit.edu	37	22	19197859	19197859	+	Missense_Mutation	SNP	C	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.chr22:19197859C>A	uc021wle.1	-	19	3301	c.3226G>T	c.(3226-3228)Gat>Tat	p.D1076Y	CLTCL1_uc021wld.1_Missense_Mutation_p.D1076Y|CLTCL1_uc021wlc.1_Missense_Mutation_p.D1076Y|CLTCL1_uc021wlf.1_Missense_Mutation_p.D1076Y|CLTCL1_uc011agw.1_Missense_Mutation_p.D1076Y|CLTCL1_uc011agt.2_5'Flank|CLTCL1_uc011agu.2_5'Flank|CLTCL1_uc010grm.1_5'Flank|CLTCL1_uc002zpd.1_Missense_Mutation_p.D36Y|CLTCL1_uc002zpe.2_Missense_Mutation_p.D36Y	NM_007098	NP_009029	P53675	CLH2_HUMAN	Homo sapiens clathrin, heavy chain-like 1 (CLTCL1), transcript variant 1, mRNA.	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									72			7		5.18039e-06	5.37964e-06	0.038147	1	0
EMR1	2015	broad.mit.edu	37	19	6926465	6926465	+	Missense_Mutation	SNP	T	C	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	uc002mfw.3	+	15	2113	c.2075T>C	c.(2074-2076)tTg>tCg	p.L692S	EMR1_uc010dvc.3_Missense_Mutation_p.L627S|EMR1_uc010dvb.3_Missense_Mutation_p.L640S|EMR1_uc010xji.2_Missense_Mutation_p.L551S|EMR1_uc010xjj.2_Missense_Mutation_p.L515S	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	692					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity|calcium ion binding			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														80			10		0	0	0.069234	0	0
OR5P2	120065	broad.mit.edu	37	11	7817817	7817817	+	Missense_Mutation	SNP	G	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.chr11:7817817G>A	uc001mfp.1	-	0	673	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R225C(2)		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														57			17		0	0	0.108266	0	0
MAP2	4133	broad.mit.edu	37	2	210560053	210560053	+	Silent	SNP	T	C	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	uc002vde.1	+	6	3407	c.3159T>C	c.(3157-3159)ttT>ttC	p.F1053F	MAP2_uc002vdc.1_Silent_p.F1053F|MAP2_uc002vdd.1_Intron|MAP2_uc002vdf.1_Intron|MAP2_uc002vdg.1_Intron|MAP2_uc002vdh.1_Intron|MAP2_uc002vdi.1_Silent_p.F1049F	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	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														85			52		0	0	0.139131	0	0
IL27	246778	broad.mit.edu	37	16	28513350	28513350	+	Missense_Mutation	SNP	G	C	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	uc002dqc.3	-	3	432	c.409C>G	c.(409-411)Ctg>Gtg	p.L137V	NPIPL1_uc010vct.2_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	Homo sapiens interleukin 27 (IL27), mRNA.	137					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation|regulation of defense response to virus	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						ATGGCCCACAGCTGCATCCTC	0.662000														64			6		0	0	0.021553	0	0
SERPINB11	89778	broad.mit.edu	37	18	61377583	61377583	+	Silent	SNP	G	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.chr18:61377583G>A	uc002ljk.4	+	1	327	c.156G>A	c.(154-156)gaG>gaA	p.E52E	SERPINB11_uc010xes.2_5'UTR|SERPINB11_uc010dqd.3_5'UTR|SERPINB11_uc002ljj.4_5'UTR|SERPINB11_uc010dqe.3_5'UTR|SERPINB11_uc010dqf.3_Silent_p.E52E	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	52					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														36			6		0	0	0.038147	0	0
CPSF1	29894	broad.mit.edu	37	8	145619157	145619157	+	Missense_Mutation	SNP	G	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.chr8:145619157G>A	uc003zcj.3	-	34	4031	c.3956C>T	c.(3955-3957)gCc>gTc	p.A1319V		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	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														28			3		0	0	0.115264	0	0
PCLO	27445	broad.mit.edu	37	7	82584494	82584494	+	Silent	SNP	T	C	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	uc003uhx.2	-	4	6064	c.5775A>G	c.(5773-5775)acA>acG	p.T1925T	PCLO_uc003uhv.2_Silent_p.T1925T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1856					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														23			18		0	0	0.160694	0	0
CLCN4	1183	broad.mit.edu	37	X	10180553	10180553	+	Missense_Mutation	SNP	C	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:10180553C>T	uc004csy.4	+	9	1866	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V	CLCN4_uc011mid.2_Missense_Mutation_p.A385V	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	479						early endosome membrane|integral to membrane|late endosome membrane	ATP binding|antiporter activity|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														43			5		0	0	0.184627	0	0
PCSK9	255738	broad.mit.edu	37	1	55505552	55505553	+	In_Frame_Ins	INS	-	CTG	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	uc001cyf.2	+	0	404_405	c.42_43insCTG	c.(40-45)insCTG	p.23_24insL	PCSK9_uc010ool.2_Non-coding_Transcript|PCSK9_uc010oom.2_5'Flank	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	23			L -> LL (this polymoprhism seems to have a modifier effect on LDLR mutation and familial hypercholesterolemia).		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													---	4	---	---	3	---					
OR2T35	403244	broad.mit.edu	37	1	248801602	248801603	+	Frame_Shift_Ins	INS	-	CA	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	uc001ies.1	-	0	957_958	c.957_958insTG	c.(955-960)gtgatcfs	p.V319fs		NM_001001827	NP_001001827	Q8NGX2	O2T35_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 35 (OR2T35), mRNA.	319					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I320fs*1(2)		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													---	4	---	---	2	---					
PRSS3P2	154754	broad.mit.edu	37	7	142482280	142482280	+	Frame_Shift_Del	DEL	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	uc011ksq.2	+	4	743	c.660delT	c.(658-660)tgtfs	p.C220fs	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		GCTATGGCTGTGCCCAGAAGA	0.517													---	82	---	---	8	---					
LOC441666	441666	broad.mit.edu	37	10	42832502	42832503	+	RNA	INS	-	TATCA	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	uc010qey.2	-	2		c.1472_1473insTGATA								Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA.																		CCCCTATCAATTATGTTTAGTA	0.366													---	5	---	---	3	---					
TPTE	7179	broad.mit.edu	37	21	10944697	10944697	+	Frame_Shift_Del	DEL	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	uc002yip.1	-	10	905	c.537delT	c.(535-537)tttfs	p.F179fs	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Frame_Shift_Del_p.F161fs|TPTE_uc002yir.1_Frame_Shift_Del_p.F141fs|TPTE_uc010gkv.1_Frame_Shift_Del_p.F41fs	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	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													---	230	---	---	7	---					
TRIOBP	11078	broad.mit.edu	37	22	38119882	38119884	+	In_Frame_Del	DEL	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	uc003atr.3	+	6	1590_1592	c.1319_1321delCCT	c.(1318-1323)gcctcc>gcc	p.S442del	TRIOBP_uc003atu.3_In_Frame_Del_p.S270del|TRIOBP_uc003atq.1_In_Frame_Del_p.S442del|TRIOBP_uc003ats.1_In_Frame_Del_p.S270del	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	442					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	GTP-Rho binding|actin 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													---	126	---	---	7	---					
ATRX	546	broad.mit.edu	37	X	76855019	76855019	+	Frame_Shift_Del	DEL	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	uc004ecp.4	-	24	6049	c.5817delA	c.(5815-5817)aaafs	p.K1939fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K1901fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K1724fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1939	Poly-Lys.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|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						---	242	---	---	61	---					
