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
FLAD1	80308	broad.mit.edu	37	1	154965246	154965246	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr1:154965246A>G	ENST00000292180.3	+	6	1934	c.1612A>G	c.(1612-1614)Atc>Gtc	p.I538V	FLAD1_ENST00000368428.1_Missense_Mutation_p.I79V|FLAD1_ENST00000315144.10_Missense_Mutation_p.I441V|FLAD1_ENST00000368432.1_Missense_Mutation_p.I441V|FLAD1_ENST00000295530.2_Intron|FLAD1_ENST00000405236.2_Intron	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	538	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCATACTGTATCCTGTATGA	0.502000													38	58					0	0	0.006230	0	0
IGHV3OR16-9	0	broad.mit.edu	37	16	32077672	32077672	+	RNA	SNP	G	G	C			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr16:32077672G>C	ENST00000354689.6	+	0	287				RP11-1166P10.6_ENST00000566806.1_RNA																							GTGTATTACTGTGTGAAACAC	0.557000													64	239					0	0	0.014410	0	0
KCNH8	131096	broad.mit.edu	37	3	19389439	19389439	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr3:19389439G>A	ENST00000328405.2	+	5	1059	c.793G>A	c.(793-795)Gag>Aag	p.E265K	KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	265						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CATTGCAGTGGAGATTCTTTT	0.393000													32	70					0	0	0.013726	0	0
ZNF724P	0	broad.mit.edu	37	19	23405580	23405580	+	Silent	SNP	T	T	C	rs10412126	by1000genomes	TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr19:23405580T>C	ENST00000418100.1	-	4	1584	c.1467A>G	c.(1465-1467)ctA>ctG	p.L489L																	endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						GGTGTGAGGATAGGTTAAAAG	0.383000													4	40					0	0	0.009096	0	0
PACS1	55690	broad.mit.edu	37	11	65988687	65988687	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr11:65988687A>G	ENST00000320580.4	+	10	1295	c.1262A>G	c.(1261-1263)aAa>aGa	p.K421R		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	421					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CTCAACAGCAAAGGCAGCCTC	0.642000													5	86					0	0	0.000602	0	0
PAPL	0	broad.mit.edu	37	19	39591277	39591277	+	Missense_Mutation	SNP	G	G	C	rs149656463	byFrequency	TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr19:39591277G>C	ENST00000331256.5	+	6	961	c.687G>C	c.(685-687)tgG>tgC	p.W229C	PAPL_ENST00000594229.1_Missense_Mutation_p.G188A	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		229						extracellular region	acid phosphatase activity|metal ion binding										AGGGCCTGTGGTACAGGTAAT	0.572000													38	62					0	0	0.009718	0	0
C17orf47	284083	broad.mit.edu	37	17	56620284	56620284	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr17:56620284C>T	ENST00000321691.3	-	1	1445	c.1264G>A	c.(1264-1266)Gga>Aga	p.G422R	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793.2	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	422										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGTCAGGTCCGTACCTAGGT	0.547000													38	64					0	0	0.005524	0	0
TLR3	7098	broad.mit.edu	37	4	187004365	187004365	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr4:187004365A>G	ENST00000296795.2	+	4	1629	c.1525A>G	c.(1525-1527)Acc>Gcc	p.T509A	TLR3_ENST00000504367.1_Missense_Mutation_p.T232A	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3	509					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TCGTAACTTGACCATTCTGGA	0.443000													51	63					0	0	0.014410	0	0
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	rs121913499		TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G			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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma								24	45					0	0	0.003330	0	0
SCD	6319	broad.mit.edu	37	10	102120548	102120548	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr10:102120548A>C	ENST00000370355.2	+	6	1319	c.938A>C	c.(937-939)tAc>tCc	p.Y313S		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	313					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		GCCAGTGAGTACCGCTGGCAC	0.532000													5	96					0	0	0.000602	0	0
ADRA1D	146	broad.mit.edu	37	20	4202427	4202427	+	Silent	SNP	G	G	T			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr20:4202427G>T	ENST00000379453.4	-	2	1578	c.1462C>A	c.(1462-1464)Cga>Aga	p.R488R		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	488					cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	GGTGGCTTTCGACGGCTGGCG	0.736000													6	5					2.7689e-08	3.30138e-08	0.001984	1	0
CDR2	1039	broad.mit.edu	37	16	22359074	22359074	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr16:22359074C>G	ENST00000268383.2	-	5	884	c.577G>C	c.(577-579)Gag>Cag	p.E193Q		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	193						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TCATTTTCCTCTTCATCAGGG	0.458000													57	60					0	0	0.014410	0	0
CDH4	1002	broad.mit.edu	37	20	60419758	60419758	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr20:60419758G>A	ENST00000360469.5	+	5	699	c.611G>A	c.(610-612)cGg>cAg	p.R204Q	CDH4_ENST00000543233.1_Missense_Mutation_p.R130Q	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	204	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ATCCCCATCCGGTACAGCATC	0.607000													9	58					0	0	0.008291	0	0
ABHD16B	140701	broad.mit.edu	37	20	62493607	62493607	+	Silent	SNP	C	C	T			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr20:62493607C>T	ENST00000369916.3	+	1	1042	c.714C>T	c.(712-714)ccC>ccT	p.P238P		NM_080622.3	NP_542189.1	Q9H3Z7	ABHGB_HUMAN	abhydrolase domain containing 16B	238							hydrolase activity			endometrium(2)|kidney(1)|lung(3)	6						ACTTCCCGCCCGCGCACCTGG	0.687000													7	6					0	0	0.004482	0	0
ATRX	546	broad.mit.edu	37	X	76814319	76814319	+	Splice_Site	SNP	T	T	C			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chrX:76814319T>C	ENST00000373344.5	-	29	6541		c.e29-2		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	AATCGTCCTCTGAAAATGAAA	0.274000			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						21	9					0	0	0.012319	0	0
HIVEP3	59269	broad.mit.edu	37	1	42049199	42049199	+	Nonsense_Mutation	SNP	G	G	A			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr1:42049199G>A	ENST00000372584.1	-	3	2284	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*	HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.R424*|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.R424*|HIVEP3_ENST00000372583.1_Nonsense_Mutation_p.R424*	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	424	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.R424*(1)		NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				TGTCCTATTCGCCCACACTTG	0.607000													20	44					0	0	0.007413	0	0
TP53	7157	broad.mit.edu	37	17	7577551	7577551	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr17:7577551C>G	ENST00000420246.2	-	7	862	c.730G>C	c.(730-732)Ggc>Cgc	p.G244R	TP53_ENST00000269305.4_Missense_Mutation_p.G244R|TP53_ENST00000413465.2_Missense_Mutation_p.G244R|TP53_ENST00000359597.4_Missense_Mutation_p.G244R|TP53_ENST00000445888.2_Missense_Mutation_p.G244R|TP53_ENST00000455263.2_Missense_Mutation_p.G244R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	244	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (in a sporadic cancer; 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.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(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)		TTCATGCCGCCCATGCAGGAA	0.582000		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)			52	11					0	0	0.014410	0	0
ESPNP	0	broad.mit.edu	37	1	17023110	17023110	+	RNA	SNP	G	G	A	rs11260887	by1000genomes	TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr1:17023110G>A	ENST00000492551.1	-	0	1753					NR_026567.1																						GTTGAGCAGCGGCTGAAACCC	0.687000													3	19					0	0	0.004672	0	0
FGD6	55785	broad.mit.edu	37	12	95604907	95604907	+	Silent	SNP	T	T	G			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr12:95604907T>G	ENST00000343958.4	-	2	376	c.153A>C	c.(151-153)gcA>gcC	p.A51A	FGD6_ENST00000549499.1_Silent_p.A51A|FGD6_ENST00000546711.1_Silent_p.A51A	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	51					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTGGGGCTATTGCTGGTTTCA	0.458000													105	171					0	0	0.014410	0	0
CASR	846	broad.mit.edu	37	3	122002611	122002611	+	Missense_Mutation	SNP	G	G	A	rs104893712		TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr3:122002611G>A	ENST00000498619.1	+	7	2278	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K	CASR_ENST00000490131.1_Missense_Mutation_p.E604K|CASR_ENST00000296154.5_Missense_Mutation_p.E604K	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN	calcium-sensing receptor	604					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAAGGAGATCGAGTTTCTGTC	0.517000													14	55					0	0	0.001855	0	0
DHCR7	1717	broad.mit.edu	37	11	71152414	71152414	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr11:71152414G>A	ENST00000355527.3	-	6	761	c.485C>T	c.(484-486)gCt>gTt	p.A162V	DHCR7_ENST00000407721.2_Missense_Mutation_p.A162V	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	162					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CAGGAGATGAGCGTTTGCAAA	0.547000									Smith-Lemli-Opitz syndrome				3	33					0	0	0.004672	0	0
CEP290	80184	broad.mit.edu	37	12	88512304	88512305	+	Frame_Shift_Ins	INS	-	-	T	rs77980773		TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr12:88512304_88512305insT	ENST00000552810.1	-	17	2009_2010	c.1666_1667insA	c.(1666-1668)tcgfs	p.S556fs	CEP290_ENST00000397838.3_5'UTR|CEP290_ENST00000309041.7_Frame_Shift_Ins_p.S558fs	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	556					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	p.I558fs*20(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CATTTGACGAATTTTTTTTTTC	0.312													4	3	---	---	---	---					
NCOR1P1	0	broad.mit.edu	37	20	26084428	26084428	+	RNA	DEL	C	C	-			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr20:26084428delC	ENST00000478176.1	-	0	150					NR_003678.1																						TCTAATGAAACCTTTAGTAGT	0.313													2	4	---	---	---	---