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
CYP21A1P	1590	broad.mit.edu	37	6	31975129	31975129	+	Silent	SNP	T	C	C	rs113153064	by1000genomes	TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr6:31975129T>C	uc021yve.1	+	4	1306	c.744T>C	c.(742-744)tcT>tcC	p.S248S				Q5ST44	Q5ST44_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene (CYP21A1P), non-coding RNA.	244							electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen										AAGAGGGCTCTGGACAGCTCC	0.607000														82			4		0	0	0.150653	0	0
TIFAB	497189	broad.mit.edu	37	5	134785348	134785348	+	Silent	SNP	C	T	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr5:134785348C>T	uc003law.4	-	1	483	c.282G>A	c.(280-282)ctG>ctA	p.L94L	C5orf20_uc003lav.3_5'Flank|TIFAB_uc021ydu.1_Silent_p.L94L	NM_001099221	NP_001092691	Q6ZNK6	TIFAB_HUMAN	Homo sapiens TRAF-interacting protein with forkhead-associated domain, family member B (TIFAB), mRNA.	94										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGACCTGCTCCAGGTACCTCA	0.607000														108			49		0	0	0.870114	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274157	39274157	+	Silent	SNP	G	A	A	rs145503152		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr17:39274157G>A	uc002hvz.3	-	0	450	c.411C>T	c.(409-411)ccC>ccT	p.P137P		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	137	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament		p.P137P(6)		endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			tgctgcagctggggtggcagc	0.672000														34			7		0	0	0.361761	0	0
CIC	23152	broad.mit.edu	37	19	42791758	42791758	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr19:42791758G>A	uc002otf.1	+	4	684	c.644G>A	c.(643-645)cGg>cAg	p.R215Q		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)|p.R215Q(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGCGGCACCGGGCCCTGGTC	0.612000			"""Mis, F, S"""		oligodendroglioma									15			21		0	0	0.592651	0	0
ADCY8	114	broad.mit.edu	37	8	131922058	131922058	+	Silent	SNP	G	A	A	rs150100724		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr8:131922058G>A	uc003ytd.4	-	5	1792	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	ADCY8_uc010mds.3_Silent_p.S512S	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	512					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCACCGAGCCGGAGTGGATTC	0.473000										HNSCC(32;0.087)				113			5		0	0	0.184627	0	0
CHD8	57680	broad.mit.edu	37	14	21868155	21868155	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr14:21868155C>T	uc001war.2	-	23	4867	c.4802G>A	c.(4801-4803)gGg>gAg	p.G1601E	CHD8_uc001was.2_Missense_Mutation_p.G1322E|SNORD8_uc001wau.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1601					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|beta-catenin binding|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AATCGCACCCCCTAACACCTT	0.423000														180			71		0	0	0.870114	0	0
AP2A2	161	broad.mit.edu	37	11	992664	992664	+	Silent	SNP	C	T	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr11:992664C>T	uc001lst.2	+	10	1647	c.1434C>T	c.(1432-1434)taC>taT	p.Y478Y	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Silent_p.Y477Y|AP2A2_uc009ycq.1_Silent_p.Y68Y	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	477					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCAGGGCTACGCGGCCAAGA	0.567000														51			3		0	0	0.150653	0	0
IDI1	3422	broad.mit.edu	37	10	1089327	1089327	+	Missense_Mutation	SNP	A	G	G			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr10:1089327A>G	uc001iga.3	-	2	438	c.320T>C	c.(319-321)tTg>tCg	p.L107S	IDI2-AS1_uc010qaf.1_Intron|IDI2-AS1_uc001ifx.3_Intron|IDI2-AS1_uc001ifw.3_Intron|IDI2-AS1_uc001ify.3_Intron|IDI1_uc001ifz.3_Missense_Mutation_p.L51S|IDI1_uc001igb.3_Non-coding_Transcript|IDI1_uc001igc.3_Missense_Mutation_p.L51S	NM_004508	NP_004499	Q13907	IDI1_HUMAN	Homo sapiens isopentenyl-diphosphate delta isomerase 1 (IDI1), mRNA.	50	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding	p.L106*(1)|p.L106F(1)		large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		AGCTCGATGCAATAATCCTGA	0.348000														27			19		0	0	0.592651	0	0
MARCH1	55016	broad.mit.edu	37	4	164450155	164450155	+	Silent	SNP	G	C	C			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr4:164450155G>C	uc003iqs.2	-	7	797	c.615C>G	c.(613-615)gcC>gcG	p.A205A	MARCH1_uc003iqr.2_Silent_p.A188A	NM_001166373	NP_001159845	Q8TCQ1	MARH1_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 1 (MARCH1), transcript variant 1, mRNA.	205					antigen processing and presentation of peptide antigen via MHC class II|immune response	Golgi apparatus|cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGAAGCCAATGGCTACCACAA	0.438000														45			3		0	0	0.150653	0	0
LAMA3	3909	broad.mit.edu	37	18	21330907	21330907	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr18:21330907G>A	uc002kuq.3	+	4	796	c.710G>A	c.(709-711)cGt>cAt	p.R237H	LAMA3_uc010dlv.2_Missense_Mutation_p.R237H|LAMA3_uc002kur.3_Missense_Mutation_p.R237H	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	237	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATAAACGGTCGTCCAGGTGCA	0.393000														81			51		0	0	0.870114	0	0
C19orf21	126353	broad.mit.edu	37	19	757295	757295	+	Missense_Mutation	SNP	G	C	C			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr19:757295G>C	uc002lpo.3	+	1	432	c.349G>C	c.(349-351)Gag>Cag	p.E117Q		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	117										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGGACGGGGAGGACAAGGA	0.667000														21			12		0	0	0.387290	0	0
CDKN2C	1031	broad.mit.edu	37	1	51439758	51439758	+	Missense_Mutation	SNP	A	G	G			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:51439758A>G	uc001csf.3	+	2	2298	c.323A>G	c.(322-324)cAc>cGc	p.H108R	CDKN2C_uc001csg.3_Missense_Mutation_p.H108R	NM_001262	NP_523240	P42773	CDN2C_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) (CDKN2C), transcript variant 1, mRNA.	108					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|cell cycle arrest|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CTGCCCTTGCACTTGGCTGCC	0.552000			D		"""glioma, MM"""									9			9		0	0	0.307466	0	0
SPTBN5	51332	broad.mit.edu	37	15	42164528	42164528	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr15:42164528G>A	uc001zos.3	-	26	5365	c.5032C>T	c.(5032-5034)Cgg>Tgg	p.R1678W		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1713					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCAGTGCCCGCAGCTGCTCC	0.637000														16			8		0	0	0.278610	0	0
MYLK	4638	broad.mit.edu	37	3	123419711	123419711	+	Silent	SNP	G	A	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr3:123419711G>A	uc003ego.3	-	17	2886	c.2604C>T	c.(2602-2604)gaC>gaT	p.D868D	MYLK_uc011bjw.2_Silent_p.D868D|MYLK_uc003egp.3_Silent_p.D799D|MYLK_uc003egq.3_Silent_p.D868D|MYLK_uc003egr.3_Silent_p.D799D|MYLK_uc003egs.3_Silent_p.D692D|MYLK_uc003egt.3_Silent_p.D59D	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	868	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	ATP binding|actin binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCCCTCGCACGTCCTCGCCGT	0.652000														74			31		0	0	0.804634	0	0
CNTNAP3B	728577	broad.mit.edu	37	9	43816717	43816717	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr9:43816717G>A	uc004ada.2	+	5	1233	c.823G>A	c.(823-825)Gtc>Atc	p.V275I	CNTNAP3B_uc004acz.2_Non-coding_Transcript	NM_001201380	NP_001188309	Q96NU0	CNT3B_HUMAN	Homo sapiens contactin associated protein-like 3B (CNTNAP3B), mRNA.	275	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			central_nervous_system(1)|endometrium(2)|lung(3)|pancreas(1)|prostate(3)	10						CTGGCATTCCGTCCTCATCGA	0.493000														45			9		0	0	0.500413	0	0
LOC401127	401127	broad.mit.edu	37	4	39482584	39482584	+	RNA	SNP	T	C	C	rs17438520	by1000genomes	TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr4:39482584T>C	uc011byn.2	+	0		c.710T>C								Homo sapiens WD repeat domain 5 pseudogene (LOC401127), non-coding RNA.																		GCCACAAGACTGCTAGCTCAC	0.453000														32			3		0	0	0.115264	0	0
FAM86C1	55199	broad.mit.edu	37	8	8094726	8094726	+	RNA	SNP	G	A	A	rs2945249	by1000genomes	TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr8:8094726G>A	uc011kwt.2	+	6		c.955G>A			FAM86C1_uc010lrq.2_Non-coding_Transcript|FAM86C1_uc003wsf.4_Non-coding_Transcript			Q9NVL1	FA86C_HUMAN	Homo sapiens family with sequence similarity 86, member A pseudogene (FLJ10661), transcript variant 1, non-coding RNA.											lung(1)	1						GAGCACCAGCGGGCTTCTGAG	0.612000														19			3		0	0	0.115264	0	0
TNN	63923	broad.mit.edu	37	1	175116071	175116071	+	Missense_Mutation	SNP	T	G	G			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:175116071T>G	uc001gkl.1	+	18	3877	c.3764T>G	c.(3763-3765)gTg>gGg	p.V1255G		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1255	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		TGGTAGGGGGTGAACTGGGAG	0.448000											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)		37			5		0	0	0.387290	0	0
AL117485	0	broad.mit.edu	37	22	18846098	18846098	+	RNA	SNP	G	A	A	rs9306211		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr22:18846098G>A	uc002zoe.3	+	4		c.2460G>A			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		ATGCCTCGGCGCTCGATCTCC	0.622000														58			4		0	0	0.184627	0	0
TTN	7273	broad.mit.edu	37	2	179433152	179433152	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr2:179433152C>T	uc021vsy.1	-	274	70228	c.70003G>A	c.(70003-70005)Gtc>Atc	p.V23335I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V17030I|TTN_uc021vta.1_Missense_Mutation_p.V16963I|TTN_uc021vtb.1_Missense_Mutation_p.V16838I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24262	Fibronectin type-III 69.						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)			TCAGCACTGACGTCATCAAAT	0.403000														40			8		0	0	0.278610	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	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									63			19		0	0	0.592651	0	0
AHNAK2	113146	broad.mit.edu	37	14	105420366	105420366	+	Silent	SNP	G	A	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr14:105420366G>A	uc010axc.1	-	6	1542	c.1422C>T	c.(1420-1422)ggC>ggT	p.G474G	AHNAK2_uc021seo.1_5'Flank|AHNAK2_uc001ypx.2_Silent_p.G374G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	474						nucleus		p.G474G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAATCTGTGTGCCTCCTTCGG	0.522000														48			8		0	0	0.307466	0	0
OR4K15	81127	broad.mit.edu	37	14	20444378	20444378	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr14:20444378C>T	uc010tkx.2	+	0	701	c.701C>T	c.(700-702)tCc>tTc	p.S234F		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCTGAGTTCCTTTCTCCTC	0.453000														97			42		0	0	0.834066	0	0
TRPC7	57113	broad.mit.edu	37	5	135693009	135693009	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr5:135693009G>A	uc003lbn.2	-	1	289	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	TRPC7_uc010jef.2_Missense_Mutation_p.R14C|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.R23C|TRPC7_uc010jei.2_Missense_Mutation_p.R23C	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	23					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGGCCTGGCGACGGCCCTTC	0.587000														52			37		0	0	0.779181	0	0
DAO	1610	broad.mit.edu	37	12	109294236	109294236	+	Silent	SNP	C	T	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr12:109294236C>T	uc001tnr.4	+	10	1640	c.969C>T	c.(967-969)gcC>gcT	p.A323A	DAO_uc001tnq.4_Silent_p.A257A|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	323					glyoxylate metabolic process	peroxisomal matrix	D-amino-acid oxidase activity|binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						GGGGATGTGCCCTGGAGGCAG	0.572000														90			18		0	0	0.539581	0	0
BC063132	0	broad.mit.edu	37	GL000241.1	34494	34494	+	Splice_Site	SNP	C	T	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chrGL000241.1:34494C>T	uc011mgv.2	-	3		c.389_splice	c.e3+1							Homo sapiens cDNA clone IMAGE:4673444, containing frame-shift errors.																		AACTGACTCACCAACATATCA	0.279000														73			4		0	0	0.150653	0	0
ITPR1	3708	broad.mit.edu	37	3	4725122	4725122	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr3:4725122C>T	uc003bqc.3	+	25	3519	c.3169C>T	c.(3169-3171)Cgt>Tgt	p.R1057C	ITPR1_uc021wsi.1_Missense_Mutation_p.R1063C|ITPR1_uc021wsj.1_Missense_Mutation_p.R1048C|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1072					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AACCTTTCTCCGTGTCCTGCT	0.582000														129			63		0	0	0.870114	0	0
UMODL1	89766	broad.mit.edu	37	21	43519136	43519136	+	Silent	SNP	C	T	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr21:43519136C>T	uc002zag.1	+	6	1032	c.1032C>T	c.(1030-1032)gtC>gtT	p.V344V	UMODL1_uc002zad.1_Silent_p.V272V|UMODL1_uc002zae.1_Silent_p.V272V|UMODL1_uc002zaf.1_Silent_p.V344V|UMODL1_uc010gow.1_Silent_p.V136V|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Silent_p.V89V	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	344	Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTTTCCATGTCCGGGTTTACC	0.542000														59			32		0	0	0.750413	0	0
NLRP9	338321	broad.mit.edu	37	19	56249567	56249567	+	Silent	SNP	C	A	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr19:56249567C>A	uc002qly.3	-	0	202	c.174G>T	c.(172-174)ctG>ctT	p.L58L		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	58	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTTTGTCCAGCAGCTTTGCTA	0.458000														158			173		2.1706e-81	2.28191e-81	0.870114	1	0
SSPO	23145	broad.mit.edu	37	7	149486800	149486800	+	Missense_Mutation	SNP	C	T	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr7:149486800C>T	uc010lpk.3	+	30	4574	c.4574C>T	c.(4573-4575)cCg>cTg	p.P1525L		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1525	LDL-receptor class A 4.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GATGAGGGGCCGGGACACTGC	0.682000														28			13		0	0	0.457914	0	0
RAVER2	55225	broad.mit.edu	37	1	65268661	65268661	+	Missense_Mutation	SNP	G	A	A			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:65268661G>A	uc001dbt.2	+	3	792	c.745G>A	c.(745-747)Gtt>Att	p.V249I	RAVER2_uc001dbs.2_Missense_Mutation_p.V370I|RAVER2_uc010opb.2_Missense_Mutation_p.V249I	NM_018211	NP_060681	Q9HCJ3	RAVR2_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 2 (RAVER2), mRNA.	370	RRM 3.					cytoplasm|nucleus	RNA binding|nucleotide binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						tCTCAAAGCCGTTCTTGGAAC	0.299000														38			3		0	0	0.115264	0	0
FUBP1	8880	broad.mit.edu	37	1	78426058	78426059	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:78426058_78426059insT	uc001dii.3	-	14	1555_1556	c.1466_1467insA	c.(1465-1467)tatfs	p.Y489fs	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Frame_Shift_Ins_p.Y510fs	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	489	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	RNA binding|protein binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GTCCAGGATTATAAGGTGCAGG	0.545			"""F, N"""		oligodendroglioma								---	7	---	---	13	---					
TOB2P1	222699	broad.mit.edu	37	6	28185356	28185356	+	RNA	DEL	G	-	-	rs71762698		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr6:28185356delG	uc011dla.1	-	0		c.1352delC								Homo sapiens transducer of ERBB2, 2 pseudogene 1 (TOB2P1), non-coding RNA.											endometrium(1)	1						ttttttttttggcctttcctt	0.433													---	4	---	---	2	---					
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	Frame_Shift_Del	DEL	AGAGCTCC	-	-			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr7:74300557_74300564delAGAGCTCC	uc022afy.1	-	2	316_323	c.243_250delGGAGCTCT	c.(241-252)ctggagctcttcfs	p.L81fs	STAG3L2_uc011kfj.2_Non-coding_Transcript|STAG3L2_uc022afz.1_Non-coding_Transcript			P0CL84	ST3L2_HUMAN	Homo sapiens stromal antigen 3-like 2 (STAG3L2), non-coding RNA.	81	SCD.					nucleus	binding	p.E82fs*32(4)|p.R80C(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572													---	4	---	---	4	---					
DIAPH3	81624	broad.mit.edu	37	13	60582733	60582734	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr13:60582733_60582734insT	uc001vht.3	-	8	1177_1178	c.958_959insA	c.(958-960)attfs	p.I320fs	DIAPH3_uc001vhu.3_Frame_Shift_Ins_p.I57fs|DIAPH3_uc001vhw.1_Frame_Shift_Ins_p.I309fs|DIAPH3_uc010aed.1_Frame_Shift_Ins_p.I274fs|DIAPH3_uc010aee.1_Frame_Shift_Ins_p.I250fs	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	320	GBD/FH3.				actin cytoskeleton organization		Rho GTPase binding|actin binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322													---	144	---	---	7	---					
RNF151	146310	broad.mit.edu	37	16	2018730	2018730	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr16:2018730delC	uc002cnt.1	+	3	550	c.542delC	c.(541-543)tccfs	p.S181fs	TCRBV20S1_uc021tak.1_Intron	NM_174903	NP_777563	Q2KHN1	RN151_HUMAN	Homo sapiens ring finger protein 151 (RNF151), mRNA.	181					cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(1)	2						CTGCTGCTGTCCCTCCTGCGG	0.687													---	4	---	---	2	---					
