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
OTOP1	133060	broad.mit.edu	37	4	4214703	4214703	+	Silent	SNP	G	G	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr4:4214703G>A	ENST00000296358.4	-	2	456	c.432C>T	c.(430-432)acC>acT	p.T144T		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	144					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCAGGATGACGGTAATGACTG	0.388000													16	33					0	0	0.520397	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	G	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr15:23205094G>A	ENST00000400153.2	-	0	760					NR_003521.1																						AGTACTGGAAGAACGTGGTTG	0.373000													3	15					0	0	0.115264	0	0
SYNE1	23345	broad.mit.edu	37	6	152783987	152783987	+	Silent	SNP	T	T	C			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:152783987T>C	ENST00000367255.5	-	20	2737	c.2136A>G	c.(2134-2136)gaA>gaG	p.E712E	SYNE1_ENST00000466159.2_Silent_p.E712E|SYNE1_ENST00000495090.2_Silent_p.E279E|SYNE1_ENST00000413186.2_Silent_p.E712E|SYNE1_ENST00000341594.5_Silent_p.E719E|SYNE1_ENST00000448038.1_Silent_p.E719E|SYNE1_ENST00000265368.4_Silent_p.E712E|SYNE1_ENST00000423061.1_Silent_p.E719E|SYNE1_ENST00000367253.4_Silent_p.E712E|SYNE1_ENST00000367248.3_Silent_p.E702E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	712					cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGTCTGTGTATTCCTTCTTCA	0.433000										HNSCC(10;0.0054)			14	60					0	0	0.479597	0	0
CELSR3	1951	broad.mit.edu	37	3	48698353	48698353	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr3:48698353C>T	ENST00000544264.1	-	1	1995	c.1715G>A	c.(1714-1716)cGg>cAg	p.R572Q	CELSR3_ENST00000164024.4_Missense_Mutation_p.R572Q			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	572	Cadherin 3.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCCTTGTCCCGGTCAGTGGC	0.607000													8	28					0	0	0.307466	0	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011344	105011344	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:105011344T>G	ENST00000372582.1	+	11	2507	c.1751T>G	c.(1750-1752)aTa>aGa	p.I584R	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.I584R	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	584					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTCCAGCCTATACCCTCTATT	0.463000													30	74					0	0	0.769981	0	0
OR1L8	138881	broad.mit.edu	37	9	125330525	125330525	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr9:125330525C>T	ENST00000304865.2	-	1	313	c.232G>A	c.(232-234)Gtt>Att	p.V78I		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTGGGGACAACGCTTGTTGTA	0.453000													23	44					0	0	0.624587	0	0
NBPF10	100132406	broad.mit.edu	37	1	145367739	145367739	+	Silent	SNP	A	A	G	rs146714035	by1000genomes	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr1:145367739A>G	ENST00000342960.5	+	83	10370	c.10335A>G	c.(10333-10335)aaA>aaG	p.K3445K	NBPF10_ENST00000369339.3_Intron|NBPF10_ENST00000369338.1_Intron	NM_001039703.4	NP_001034792.4	A6NDV3	A6NDV3_HUMAN	neuroblastoma breakpoint family, member 10	3445								p.K3445K(4)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		ggaaggggaaaaaaagaaggg	0.413000													5	93					0	0	0.184627	0	0
AMICA1	120425	broad.mit.edu	37	11	118074285	118074285	+	Silent	SNP	C	C	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr11:118074285C>G	ENST00000292067.7	-	5	1041	c.600G>C	c.(598-600)ggG>ggC	p.G200G	AMICA1_ENST00000356289.5_Silent_p.G210G|AMICA1_ENST00000533261.1_Silent_p.G199G|AMICA1_ENST00000526620.1_Silent_p.G171G	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	210	Ig-like V-type 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGAAAATGTCCCCCACCAGGT	0.507000													20	123					0	0	0.592651	0	0
TTN	7273	broad.mit.edu	37	2	179637874	179637874	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr2:179637874G>A	ENST00000589042.1	-	33	8041	c.7817C>T	c.(7816-7818)gCg>gTg	p.A2606V	TTN_ENST00000360870.5_Missense_Mutation_p.A2606V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A2560V|TTN_ENST00000342992.6_Missense_Mutation_p.A2606V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A2560V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A2560V|TTN_ENST00000591111.1_Missense_Mutation_p.A2606V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2340							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTTCTCCCGCGTAAAATGT	0.289000													13	36					0	0	0.457914	0	0
DMXL1	1657	broad.mit.edu	37	5	118485663	118485663	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr5:118485663A>T	ENST00000311085.8	+	18	4221	c.4141A>T	c.(4141-4143)Agc>Tgc	p.S1381C	DMXL1_ENST00000539542.1_Missense_Mutation_p.S1381C	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1381										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TGCTAGTGGAAGCACTACCAG	0.453000													17	43					0	0	0.520397	0	0
PIEZO2	63895	broad.mit.edu	37	18	10691245	10691245	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr18:10691245C>T	ENST00000302079.6	-	44	6987	c.6988G>A	c.(6988-6990)Gtc>Atc	p.V2330I	PIEZO2_ENST00000285141.4_Missense_Mutation_p.V185I|PIEZO2_ENST00000503781.3_Missense_Mutation_p.V2330I|PIEZO2_ENST00000538948.1_Missense_Mutation_p.V287I|PIEZO2_ENST00000580640.1_Missense_Mutation_p.V2355I			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	2330						integral to membrane	ion channel activity	p.V2330I(1)|p.V185I(1)									AAGAGGTTGACGTAATTGTAG	0.488000													37	90					0	0	0.827153	0	0
ICAM5	7087	broad.mit.edu	37	19	10401990	10401990	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr19:10401990C>G	ENST00000221980.4	+	2	388	c.325C>G	c.(325-327)Cag>Gag	p.Q109E	ICAM5_ENST00000586004.1_3'UTR	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	109	Ig-like C2-type 1.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCGCACACTACAGGCGCGTGG	0.682000													27	56					0	0	0.729181	0	0
WHAMMP3	339005	broad.mit.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1																						GTGGTTGCCACGGTAACTAAT	0.393000													4	13					0	0	0.150653	0	0
EFNB3	1949	broad.mit.edu	37	17	7611424	7611424	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:7611424C>T	ENST00000226091.2	+	2	668	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	91					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	p.R91C(1)		large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TCAGGGCCGGCGCTGTGAGGC	0.602000													10	113					0	0	0.361761	0	0
OR2B3	442184	broad.mit.edu	37	6	29054524	29054524	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:29054524G>A	ENST00000377173.2	-	1	566	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TGACCACAGCGTGGCATGTTA	0.488000													15	32					0	0	0.457914	0	0
SGIP1	84251	broad.mit.edu	37	1	67142747	67142747	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr1:67142747C>T	ENST00000371037.4	+	13	784	c.707C>T	c.(706-708)tCg>tTg	p.S236L	SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Missense_Mutation_p.S240L|SGIP1_ENST00000371039.1_Missense_Mutation_p.S204L|SGIP1_ENST00000371035.3_Missense_Mutation_p.S193L|SGIP1_ENST00000371036.3_Missense_Mutation_p.S203L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	236	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGCATGGAGTCGCCAAAGTTA	0.403000													28	79					0	0	0.706142	0	0
PTEN	5728	broad.mit.edu	37	10	89692830	89692830	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr10:89692830G>A	ENST00000371953.3	+	5	1671	c.314G>A	c.(313-315)tGt>tAt	p.C105Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	105	Phosphatase tensin-type.		C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.C105F(6)|p.?(5)|p.R55fs*1(5)|p.C105S(3)|p.Y27fs*1(2)|p.C105Y(2)|p.C105fs*1(1)|p.F56fs*2(1)|p.P103fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAACCCTTTTGTGAAGATCTT	0.373000		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			48	45					0	0	0.870114	0	0
MYH13	8735	broad.mit.edu	37	17	10214497	10214497	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:10214497G>T	ENST00000418404.3	-	32	4742	c.4579C>A	c.(4579-4581)Ctt>Att	p.L1527I	MYH13_ENST00000252172.4_Missense_Mutation_p.L1527I|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1527					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCTTCCTGAAGATTCTTGCCA	0.443000													16	49					2.48551e-13	2.85833e-13	0.520397	1	0
HIST1H2AC	8334	broad.mit.edu	37	6	26124693	26124693	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:26124693G>A	ENST00000602637.1	+	1	263	c.233G>A	c.(232-234)cGc>cAc	p.R78H	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.R78H			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	78					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						AAGAAGACTCGCATCATCCCG	0.652000													42	74					0	0	0.870114	0	0
MED12	9968	broad.mit.edu	37	X	70351408	70351408	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:70351408C>A	ENST00000333646.6	+	29	4255	c.4056C>A	c.(4054-4056)gaC>gaA	p.D1352E	MED12_ENST00000374080.3_Missense_Mutation_p.D1352E|MED12_ENST00000374102.1_Missense_Mutation_p.D1352E	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1352					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGAACTTGGACCAGTGGACCA	0.542000			"""M, S"""		uterine leiomyoma		Opitz-Kaveggia Syndrome						6	49					8.12818e-05	9.04588e-05	0.248553	1	0
PTPRZ1	5803	broad.mit.edu	37	7	121684517	121684517	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr7:121684517A>G	ENST00000393386.2	+	23	6390	c.5979A>G	c.(5977-5979)atA>atG	p.I1993M	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I1126M	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1993					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTGAGGCCATACTTAGTAAAG	0.393000													32	87					0	0	0.788014	0	0
KRTAP1-5	83895	broad.mit.edu	37	17	39183145	39183145	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:39183145A>G	ENST00000361883.5	-	1	309	c.263T>C	c.(262-264)aTc>aCc	p.I88T		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	88	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament		p.I88T(11)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(9)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	17		Breast(137;0.00043)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGGAGCTGATCTGGCAGCA	0.632000													3	46					0	0	0.184627	0	0
EFEMP2	30008	broad.mit.edu	37	11	65635447	65635447	+	Missense_Mutation	SNP	G	G	A	rs142826827		TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr11:65635447G>A	ENST00000307998.6	-	10	1285	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L	EFEMP2_ENST00000528176.1_Missense_Mutation_p.S352L	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	352					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GCTCCGCTCCGAGGTGATGGT	0.627000													7	97					0	0	0.278610	0	0
GDF6	392255	broad.mit.edu	37	8	97157718	97157718	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr8:97157718C>G	ENST00000287020.5	-	2	540	c.441G>C	c.(439-441)aaG>aaC	p.K147N		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	147					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CAAACAAATACTTCTGTCTCC	0.562000													13	29					0	0	0.479597	0	0
ZNF429	353088	broad.mit.edu	37	19	21720782	21720782	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr19:21720782C>A	ENST00000358491.4	+	4	2135	c.1927C>A	c.(1927-1929)Cat>Aat	p.H643N	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	643					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TAAGAAAATTCATAGGATggg	0.458000													7	50					0.0381472	0.0411275	0.278610	1	0
OLFM4	10562	broad.mit.edu	37	13	53603144	53603144	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr13:53603144G>A	ENST00000219022.2	+	1	251	c.173G>A	c.(172-174)cGc>cAc	p.R58H		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	58	Ser-rich.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		agctccagccgcagcTTAGGC	0.582000													4	61					0	0	0.150653	0	0
PRPF8	10594	broad.mit.edu	37	17	1585131	1585131	+	Silent	SNP	C	C	T	rs143150486		TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:1585131C>T	ENST00000572621.1	-	4	901	c.636G>A	c.(634-636)ccG>ccA	p.P212P	PRPF8_ENST00000304992.6_Silent_p.P212P			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	212						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTCCCTCAACGGCTGGTGGT	0.542000													8	136					0	0	0.278610	0	0
GLIS3	169792	broad.mit.edu	37	9	4118007	4118007	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr9:4118007C>T	ENST00000324333.10	-	3	1199	c.1006G>A	c.(1006-1008)Ggg>Agg	p.G336R	GLIS3_ENST00000381971.3_Missense_Mutation_p.G491R	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	336					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TCCATCTCCCCGTCGTCGTCC	0.692000													6	58					0	0	0.217242	0	0
PGM5	5239	broad.mit.edu	37	9	71098810	71098810	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr9:71098810C>T	ENST00000396396.1	+	9	1554	c.1325C>T	c.(1324-1326)aCg>aTg	p.T442M		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	442					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GATCCCAAGACGACATATTAT	0.512000													10	44					0	0	0.361761	0	0
PSG9	5678	broad.mit.edu	37	19	43766011	43766011	+	Splice_Site	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr19:43766011C>T	ENST00000244293.7	-	3	776		c.e3+1		PSG9_ENST00000596730.1_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Splice_Site|PSG9_ENST00000593948.1_Splice_Site|PSG9_ENST00000443718.3_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9						female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AAGATACTCACGGAGGAGATT	0.522000													86	160					0	0	0.870114	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			5	11					0	0	0.217242	0	0
PRKCA	5578	broad.mit.edu	37	17	64785022	64785022	+	Silent	SNP	G	G	A	rs2228945	byFrequency	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:64785022G>A	ENST00000413366.3	+	16	1805	c.1779G>A	c.(1777-1779)gaG>gaA	p.E593E		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	593	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.E593E(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	ACGTGAGAGAGCATGCCTTCT	0.537000													4	73					0	0	0.184627	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135862897	135862897	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:135862897T>A	ENST00000250617.6	-	1	1350	c.145A>T	c.(145-147)Atg>Ttg	p.M49L		NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	49	CH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GAGCCAGGCATGAGTCTGTTG	0.418000													65	151					0	0	0.870114	0	0
CEACAM7	1087	broad.mit.edu	37	19	42190934	42190934	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr19:42190934C>T	ENST00000006724.3	-	2	484	c.283G>A	c.(283-285)Gca>Aca	p.A95T	CEACAM7_ENST00000338196.4_Missense_Mutation_p.A95T|CEACAM7_ENST00000401731.1_Missense_Mutation_p.A95T|CEACAM7_ENST00000602225.1_Missense_Mutation_p.A95T|CEACAM7_ENST00000599715.1_5'UTR	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	95	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CCGTTGTGTGCGGGCCCTGGG	0.443000													69	147					0	0	0.870114	0	0
ARID1B	57492	broad.mit.edu	37	6	157454205	157454205	+	Nonsense_Mutation	SNP	T	T	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:157454205T>A	ENST00000346085.5	+	8	2416	c.2415T>A	c.(2413-2415)taT>taA	p.Y805*	ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Y734*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Y792*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Y792*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	792					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGGCTCAGTATGGACCTCAAC	0.463000													25	36					0	0	0.706142	0	0
SPTSSB	165679	broad.mit.edu	37	3	161063918	161063918	+	Nonsense_Mutation	SNP	G	G	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr3:161063918G>T	ENST00000359175.4	-	3	1764	c.194C>A	c.(193-195)tCa>tAa	p.S65*	SPTSSB_ENST00000497137.1_Nonsense_Mutation_p.S65*	NM_001040100.1	NP_001035189.1	Q8NFR3	SSPTB_HUMAN	serine palmitoyltransferase, small subunit B	65					sphingolipid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	protein binding										ACATATTTTTGAGAAAAATTC	0.338000													3	40					0.115264	0.122357	0.115264	1	0
STAB2	55576	broad.mit.edu	37	12	103984727	103984727	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr12:103984727C>T	ENST00000388887.2	+	2	338	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	45					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GAGTGCCGATCCTGCGCTCTC	0.423000													24	71					0	0	0.654019	0	0
COBL	23242	broad.mit.edu	37	7	51287614	51287614	+	Silent	SNP	T	T	G	rs145775268	by1000genomes	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr7:51287614T>G	ENST00000395542.2	-	2	253	c.69A>C	c.(67-69)ccA>ccC	p.P23P	COBL_ENST00000395540.2_Silent_p.P23P|COBL_ENST00000441453.1_Silent_p.P23P|COBL_ENST00000265136.7_Silent_p.P23P			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	23	Poly-Pro.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCCAGGAGGTGGGGGAGCAC	0.552000													6	36					0	0	0.307466	0	0
FBXL7	23194	broad.mit.edu	37	5	15936897	15936897	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr5:15936897T>A	ENST00000504595.1	+	4	1559	c.1078T>A	c.(1078-1080)Tgc>Agc	p.C360S	FBXL7_ENST00000329673.7_Missense_Mutation_p.C348S|FBXL7_ENST00000510662.1_Missense_Mutation_p.C313S	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	360					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CATCGCGCACTGCGGCCGGGT	0.677000													4	9					0	0	0.150653	0	0
PTCHD4	442213	broad.mit.edu	37	6	47846864	47846864	+	Silent	SNP	G	G	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:47846864G>A	ENST00000339488.4	-	3	1749	c.1716C>T	c.(1714-1716)atC>atT	p.I572I		NM_001013732.3	NP_001013754.3	Q6ZW05	CF138_HUMAN	patched domain containing 4	572						integral to membrane	hedgehog receptor activity										GCAGGACACTGATGAAGTCAC	0.428000													9	19					0	0	0.307466	0	0
FBN2	2201	broad.mit.edu	37	5	127800434	127800434	+	Missense_Mutation	SNP	C	C	T	rs148971572	byFrequency	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr5:127800434C>T	ENST00000508053.1	-	12	1783	c.809G>A	c.(808-810)cGc>cAc	p.R270H	FBN2_ENST00000508989.1_Missense_Mutation_p.R237H|FBN2_ENST00000262464.4_Missense_Mutation_p.R270H			P35556	FBN2_HUMAN	fibrillin 2	270					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGCTCCAGTGCGGATGTTGGG	0.592000													32	59					0	0	0.769981	0	0
ZNF519	162655	broad.mit.edu	37	18	14106371	14106371	+	Silent	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr18:14106371C>T	ENST00000590202.1	-	3	320	c.168G>A	c.(166-168)gaG>gaA	p.E56E	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GTATGCCTTGCTCTGGTAAAA	0.333000													15	28					0	0	0.479597	0	0
MXRA5	25878	broad.mit.edu	37	X	3229518	3229518	+	Silent	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:3229518C>T	ENST00000217939.6	-	7	6880	c.6726G>A	c.(6724-6726)ccG>ccA	p.P2242P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2242	Ig-like C2-type 7.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAATCTTGGCCGGTTTCATCA	0.517000													30	104					0	0	0.760397	0	0
RET	5979	broad.mit.edu	37	10	43597996	43597996	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr10:43597996C>T	ENST00000355710.3	+	3	776	c.544C>T	c.(544-546)Cca>Tca	p.P182S	RET_ENST00000340058.5_Missense_Mutation_p.P182S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	182	Cadherin.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GAACCGACCCCCAGGCACCTT	0.627000		1	"""T, Mis, N, F"""	"""H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"""	"""medullary thyroid,  papillary thyroid, pheochromocytoma"""	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				23	18					0	0	0.624587	0	0
FKBP9L	360132	broad.mit.edu	37	7	55750333	55750333	+	RNA	SNP	G	G	A	rs13310841	by1000genomes	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr7:55750333G>A	ENST00000455909.1	-	0	884					NR_027340.1|NR_027342.1				FK506 binding protein 9-like											endometrium(1)|kidney(1)|lung(3)	5						CATCTGGTTCGTGCCAGGTTT	0.512000													10	13					0	0	0.387290	0	0
TMEM206	55248	broad.mit.edu	37	1	212553255	212553255	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr1:212553255A>G	ENST00000261455.4	-	5	757	c.620T>C	c.(619-621)tTc>tCc	p.F207S	TMEM206_ENST00000535273.1_Missense_Mutation_p.F268S	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	207						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		GAACTCCTGGAAAGAAGAGAA	0.498000													28	84					0	0	0.779181	0	0
RPS10P7	376693	broad.mit.edu	37	1	201489731	201489731	+	RNA	DEL	G	G	-	rs4915234	by1000genomes	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr1:201489731delG	ENST00000441932.1	+	0	1901				RP11-134G8.7_ENST00000454651.1_RNA	NR_026667.1																						AAAAAaaaaagaaagaaagct	0.423													3	5	---	---	---	---					
SFXN5	94097	broad.mit.edu	37	2	73227600	73227600	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr2:73227600delT	ENST00000272433.2	-	8	558	c.428delA	c.(427-429)cacfs	p.H143fs	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Frame_Shift_Del_p.H143fs	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	143					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						ACAGGCATTGTGGCTCTGGTT	0.587													2	4	---	---	---	---					
RP11-21G20.3	0	broad.mit.edu	37	4	155691566	155691566	+	RNA	DEL	T	T	-			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr4:155691566delT	ENST00000515071.1	-	0	165																											GCCTATCTGGTTAGCCAGGGG	0.498													2	4	---	---	---	---					
NOTCH4	4855	broad.mit.edu	37	6	32180628	32180628	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:32180628delG	ENST00000375023.3	-	16	2637	c.2499delC	c.(2497-2499)cccfs	p.P833fs	NOTCH4_ENST00000465528.1_Intron	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	833	EGF-like 21.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGTAGCCAGTGGGGCAGAGGC	0.622													2	4	---	---	---	---					
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396278	+	RNA	INS	-	-	T	rs148140777	by1000genomes	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr10:118396277_118396278insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													3	4	---	---	---	---					
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gagaag>gag	p.K853del	SFSWAP_ENST00000541286.1_In_Frame_Del_p.K905del|SFSWAP_ENST00000539506.1_3'UTR	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	853	Arg/Ser-rich (RS domain).|Poly-Lys.				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606													7	237	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48919319	48919320	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr13:48919319_48919320delTT	ENST00000267163.4	+	4	622_623	c.484_485delTT	c.(484-486)ttcfs	p.F162fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	162					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)|p.F162fs*13(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTTTGCACTCTTCAGCAAATTG	0.287		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			39	48	---	---	---	---					
TBC1D3P2	440452	broad.mit.edu	37	17	60347260	60347260	+	RNA	DEL	T	T	-	rs71816198		TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:60347260delT	ENST00000581291.1	-	0	581																				breast(2)|kidney(1)|lung(2)	5						CTCTGAATGATTTTTTTTTTT	0.448													4	3	---	---	---	---					
