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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MST1P2	11209	broad.mit.edu	37	1	16976825	16976825	+	RNA	SNP	C	A	A	rs2761525	by1000genomes	TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:16976825C>A	uc010och.1	+	14		c.2546C>A			MST1P2_uc001azl.3_RNA|MST1P2_uc009vox.2_RNA|MST1P2_uc001azm.3_RNA	NR_027504				Homo sapiens cDNA FLJ43241 fis, clone HEART1000010, weakly  similar to Hepatocyte growth factor-like protein precursor.												0						taataaaattcatatttttac	0.164000													3	29					0.004672	0.00487081	0.115264	1	0
FUBP1	8880	broad.mit.edu	37	1	78420962	78420962	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:78420962C>T	uc001dii.2	-	18	1847	c.1758G>A	c.(1756-1758)TGG>TGA	p.W586*	FUBP1_uc001dih.3_RNA|FUBP1_uc010orm.1_Nonsense_Mutation_p.W607*	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	far upstream element-binding protein	586					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(2)|lung(1)	3						AGTACTCTTCCCAAGCCTTGG	0.318000													9	22					0	0	0.361761	0	0
HRNR	388697	broad.mit.edu	37	1	152191242	152191242	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:152191242A>G	uc001ezt.1	-	3	2939	c.2863T>C	c.(2863-2865)TCC>CCC	p.S955P		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	hornerin	955	10.				keratinization		calcium ion binding|protein binding			skin(2)|ovary(1)	3	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCGTAGCTGGAGGAGTGACCT	0.542000													91	275					0	0	0.870114	0	0
SLC39A1	27173	broad.mit.edu	37	1	153932932	153932932	+	Missense_Mutation	SNP	C	T	T	rs146586677	byFrequency	TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:153932932C>T	uc001fdh.2	-	4	786	c.617G>A	c.(616-618)CGG>CAG	p.R206Q	CRTC2_uc010ped.1_5'Flank|SLC39A1_uc001fdi.2_Missense_Mutation_p.R206Q|SLC39A1_uc001fdj.2_Missense_Mutation_p.R206Q|SLC39A1_uc001fdk.2_Missense_Mutation_p.R206Q|SLC39A1_uc010pee.1_Missense_Mutation_p.R104Q|SLC39A1_uc001fdl.2_Missense_Mutation_p.R206Q	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter),	206	Extracellular (Potential).					endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity				0	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CTCCATGGCCCGAGCCCGGTC	0.662000													4	45					0	0	0.150653	0	0
DHX9	1660	broad.mit.edu	37	1	182812436	182812436	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:182812436T>G	uc001gpr.2	+	3	282	c.119T>G	c.(118-120)GTG>GGG	p.V40G	DHX9_uc001gps.2_5'UTR	NM_001357	NP_001348	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 9	40	DRBM 1.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			ovary(2)	2						AAGGTTCAGGTGGAAGGTTAT	0.333000													7	23					0	0	0.248553	0	0
CD163	9332	broad.mit.edu	37	12	7635248	7635248	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr12:7635248G>A	uc001qsz.3	-	14	3366	c.3238C>T	c.(3238-3240)CGG>TGG	p.R1080W	CD163_uc001qta.3_Missense_Mutation_p.R1080W|CD163_uc009zfw.2_Missense_Mutation_p.R1113W	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	CD163 antigen isoform a	1080	Cytoplasmic (Potential).				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			ovary(6)|pancreas(1)|skin(1)	8						CCTGCAAGCCGCTGTCTCTGT	0.428000													52	113					0	0	0.870114	0	0
KERA	11081	broad.mit.edu	37	12	91449544	91449544	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr12:91449544T>C	uc001tbl.2	-	2	1134	c.515A>G	c.(514-516)GAC>GGC	p.D172G		NM_007035	NP_008966	O60938	KERA_HUMAN	keratocan precursor	172	LRR 5.				response to stimulus|visual perception	proteinaceous extracellular matrix				skin(1)	1						GTTCTGTAGGTCAAGAAGGGT	0.413000													49	149					0	0	0.864702	0	0
FSCB	84075	broad.mit.edu	37	14	44975038	44975038	+	Silent	SNP	G	T	T			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr14:44975038G>T	uc001wvn.2	-	1	1462	c.1153C>A	c.(1153-1155)CGG>AGG	p.R385R		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	385	Pro-rich.					cilium				lung(3)|breast(3)|ovary(2)|central_nervous_system(1)	9				GBM - Glioblastoma multiforme(112;0.128)		GAGGGAGACCGAATTTCACCA	0.532000													12	137					0.00010058	0.000112009	0.411799	1	0
NETO1	81832	broad.mit.edu	37	18	70417415	70417415	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr18:70417415T>C	uc002lkw.2	-	9	1707	c.1423A>G	c.(1423-1425)ATC>GTC	p.I475V	NETO1_uc002lkx.1_Missense_Mutation_p.I474V|NETO1_uc002lky.1_Missense_Mutation_p.I475V	NM_138966	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin- and tolloid-like protein 1 isoform 3	475	Cytoplasmic (Potential).				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			ovary(2)|skin(2)	4		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATGACAAGGATATTTCTTCTG	0.507000													13	45					0	0	0.411799	0	0
NLRP2	55655	broad.mit.edu	37	19	55494669	55494669	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr19:55494669G>A	uc002qij.2	+	6	1689	c.1603G>A	c.(1603-1605)GTA>ATA	p.V535I	NLRP2_uc010yfp.1_Missense_Mutation_p.V512I|NLRP2_uc010esn.2_Missense_Mutation_p.V511I|NLRP2_uc010eso.2_Missense_Mutation_p.V532I|NLRP2_uc010esp.2_Missense_Mutation_p.V513I	NM_017852	NP_060322	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	535					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			ovary(1)|skin(1)	2			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CATTGGGGACGTACAGAAGCT	0.557000													4	48					0	0	0.184627	0	0
DNMT3A	1788	broad.mit.edu	37	2	25470985	25470985	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr2:25470985G>C	uc002rgc.2	-	7	1033	c.776C>G	c.(775-777)GCT>GGT	p.A259G	DNMT3A_uc002rgd.2_Missense_Mutation_p.A259G|DNMT3A_uc010eyi.2_RNA|DNMT3A_uc002rgb.2_Missense_Mutation_p.A70G	NM_022552	NP_072046	Q9Y6K1	DNM3A_HUMAN	DNA cytosine methyltransferase 3 alpha isoform	259	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			haematopoietic_and_lymphoid_tissue(133)|lung(4)|ovary(3)	140	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCGTGGTAGCCACAGTGGG	0.647000			Mis|F|N|S		AML								23	54					0	0	0.639603	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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).|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 -> 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).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma 								16	70					0	0	0.479597	0	0
FLRT3	23767	broad.mit.edu	37	20	14306271	14306271	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr20:14306271T>C	uc002wov.1	-	3	2349	c.1882A>G	c.(1882-1884)AGT>GGT	p.S628G	MACROD2_uc002wot.2_Intron|MACROD2_uc002wou.2_Intron|FLRT3_uc002wow.1_Missense_Mutation_p.S628G	NM_198391	NP_938205	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	628	Cytoplasmic (Potential).				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			kidney(1)	1		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CTGCTTTCACTGTGATTGTTT	0.413000													18	135					0	0	0.520397	0	0
WISP2	8839	broad.mit.edu	37	20	43348625	43348625	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr20:43348625T>G	uc002xmn.2	+	3	501	c.148T>G	c.(148-150)TGT>GGT	p.C50G	uc002xml.1_Intron|uc002xmm.1_Intron|WISP2_uc002xmo.1_Missense_Mutation_p.C50G|WISP2_uc002xmp.2_Missense_Mutation_p.C50G|WISP2_uc002xmq.2_Missense_Mutation_p.C50G	NM_003881	NP_003872	O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	50	IGFBP N-terminal.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GCTGGATGGCTGTGGCTGCTG	0.697000													5	15					0	0	0.184627	0	0
TSHZ2	128553	broad.mit.edu	37	20	51873020	51873020	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr20:51873020C>T	uc002xwo.2	+	2	3979	c.3023C>T	c.(3022-3024)GCG>GTG	p.A1008V		NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1008	C2H2-type 5.				multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(5)|haematopoietic_and_lymphoid_tissue(1)	6			STAD - Stomach adenocarcinoma(23;0.1)			AGCAAACATGCGGTAAAACTC	0.468000													19	59					0	0	0.557998	0	0
PIK3CA	5290	broad.mit.edu	37	3	178917478	178917478	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:178917478G>A	uc003fjk.2	+	3	510	c.353G>A	c.(352-354)GGT>GAT	p.G118D		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	118					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G118D(6)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTATTAAAGGTTTTGCTATC	0.338000		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			13	76					0	0	0.435327	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:178952072A>G	uc003fjk.2	+	21	3284	c.3127A>G	c.(3127-3129)ATG>GTG	p.M1043V		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043I(31)|p.M1043V(15)|p.M1043T(3)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGAAACAAATGAATGATGC	0.368000		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			7	97					0	0	0.248553	0	0
LMLN	89782	broad.mit.edu	37	3	197751579	197751579	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:197751579C>G	uc011buo.1	+	14	1598	c.1576C>G	c.(1576-1578)CTA>GTA	p.L526V	LMLN_uc003fyt.2_Missense_Mutation_p.L511V|LMLN_uc010iar.2_Missense_Mutation_p.L563V|LMLN_uc010ias.2_Missense_Mutation_p.L474V|LMLN_uc003fyu.2_Missense_Mutation_p.L323V	NM_033029	NP_149018	Q96KR4	LMLN_HUMAN	leishmanolysin-like isoform 2	526					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			skin(1)	1	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTCCGTTTGTCTAATTCAGAA	0.393000													12	91					0	0	0.387290	0	0
CPEB2	132864	broad.mit.edu	37	4	15060817	15060817	+	Missense_Mutation	SNP	A	T	T			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr4:15060817A>T	uc003gni.1	+	9	1339	c.1252A>T	c.(1252-1254)ATA>TTA	p.I418L	CPEB2_uc003gnj.1_Missense_Mutation_p.I388L|CPEB2_uc003gnk.1_Missense_Mutation_p.I426L|CPEB2_uc003gnl.1_Missense_Mutation_p.I399L|CPEB2_uc003gnm.1_Missense_Mutation_p.I396L|CPEB2_uc003gnn.1_Missense_Mutation_p.I391L	NM_182485	NP_872291	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding	418	RRM 1.				regulation of translation	cytoplasm	nucleotide binding|RNA binding			skin(1)	1						ATAGGTTCAAATACGTCCTTG	0.348000													5	59					0	0	0.217242	0	0
UGT2B28	54490	broad.mit.edu	37	4	70155435	70155435	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr4:70155435G>A	uc003hej.2	+	4	1057	c.1055G>A	c.(1054-1056)CGG>CAG	p.R352Q	UGT2B28_uc010ihr.2_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family,	352					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			skin(1)	1					Flunitrazepam(DB01544)	CTCAATACTCGGCTGTATAAG	0.363000													30	36					0	0	0.717897	0	0
GK2	2712	broad.mit.edu	37	4	80328636	80328636	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr4:80328636T>C	uc003hlu.2	-	1	737	c.719A>G	c.(718-720)TAT>TGT	p.Y240C		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	glycerol kinase 2	240					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			ovary(2)|skin(2)	4						AATTAGGCCATAGATCTCAGA	0.423000													37	98					0	0	0.779181	0	0
NUP155	9631	broad.mit.edu	37	5	37309323	37309323	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr5:37309323T>C	uc003jku.1	-	24	2793	c.2675A>G	c.(2674-2676)GAA>GGA	p.E892G	NUP155_uc003jkt.1_Missense_Mutation_p.E833G|NUP155_uc010iuz.1_Missense_Mutation_p.E828G	NM_153485	NP_705618	O75694	NU155_HUMAN	nucleoporin 155kDa isoform 1	892					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			ovary(1)	1	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTTTCTTTTTCAGTCTTATT	0.343000													9	23					0	0	0.307466	0	0
RREB1	6239	broad.mit.edu	37	6	7231010	7231010	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:7231010C>T	uc003mxc.2	+	10	3068	c.2678C>T	c.(2677-2679)GCG>GTG	p.A893V	RREB1_uc003mxb.2_Missense_Mutation_p.A893V|RREB1_uc010jnx.2_Missense_Mutation_p.A893V	NM_001003698	NP_001003698	Q92766	RREB1_HUMAN	ras responsive element binding protein 1 isoform	893					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			ovary(4)|large_intestine(2)|pancreas(2)|skin(2)|breast(1)	11	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGTAGCTTTGCGGTGGACTTC	0.592000													5	63					0	0	0.217242	0	0
KIF6	221458	broad.mit.edu	37	6	39513390	39513390	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:39513390C>T	uc003oot.2	-	11	1351	c.1256G>A	c.(1255-1257)CGT>CAT	p.R419H	KIF6_uc010jxa.1_Missense_Mutation_p.R210H|KIF6_uc011dua.1_Missense_Mutation_p.R419H|KIF6_uc010jxb.1_Missense_Mutation_p.R419H	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	419					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)	3						ATGAACTTTACGCATATCCGC	0.358000													27	65					0	0	0.729181	0	0
DLK2	65989	broad.mit.edu	37	6	43418774	43418774	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:43418774G>A	uc003ova.2	-	6	864	c.655C>T	c.(655-657)CGC>TGC	p.R219C	DLK2_uc003ovb.2_Missense_Mutation_p.R219C	NM_023932	NP_076421	Q6UY11	DLK2_HUMAN	EGF-like-domain, multiple 9 precursor	219	Extracellular (Potential).|EGF-like 6; calcium-binding (Potential).					integral to membrane	calcium ion binding				0	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGGCATGGGCGGCTGGCACAG	0.622000													5	67					0	0	0.217242	0	0
FRK	2444	broad.mit.edu	37	6	116265543	116265543	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:116265543G>A	uc003pwi.1	-	6	1451	c.1004C>T	c.(1003-1005)GCG>GTG	p.A335V		NM_002031	NP_002022	P42685	FRK_HUMAN	fyn-related kinase	335	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			ovary(3)|lung(3)	6		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		AACCTGTGCCGCCATGTCTAC	0.418000													4	65					0	0	0.150653	0	0
MAP3K4	4216	broad.mit.edu	37	6	161470895	161470895	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:161470895G>C	uc003qtn.2	+	3	1733	c.1591G>C	c.(1591-1593)GAC>CAC	p.D531H	MAP3K4_uc010kkc.1_Missense_Mutation_p.D531H|MAP3K4_uc003qto.2_Missense_Mutation_p.D531H|MAP3K4_uc011efz.1_RNA|MAP3K4_uc011ega.1_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	531					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			ovary(3)|lung(3)|skin(2)|stomach(1)	9		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ACCATTTGTAGACAAAGCACT	0.423000													13	94					0	0	0.435327	0	0
ST7	7982	broad.mit.edu	37	7	116869933	116869933	+	Missense_Mutation	SNP	A	C	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr7:116869933A>C	uc011knn.1	+	14	1465	c.1460A>C	c.(1459-1461)CAC>CCC	p.H487P	ST7_uc003vio.2_3'UTR|ST7_uc003viq.2_3'UTR|ST7_uc011knm.1_3'UTR|ST7_uc003vir.2_3'UTR	NM_021908	NP_068708	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7 isoform b	Error:Variant_position_missing_in_Q9NRC1_after_alignment						integral to membrane	binding			central_nervous_system(1)|skin(1)	2	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		TCCTCCACTCACCTCACCCGC	0.522000													20	36					0	0	0.827153	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37734856	37734856	+	Silent	SNP	G	A	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr8:37734856G>A	uc003xkm.1	-	2	629	c.585C>T	c.(583-585)AGC>AGT	p.S195S	RAB11FIP1_uc010lvz.1_Silent_p.S43S|RAB11FIP1_uc003xkn.1_Silent_p.S195S|RAB11FIP1_uc003xkp.1_Silent_p.S43S	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 isoform 3	195					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			ovary(1)|central_nervous_system(1)|skin(1)	3		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AAGGTGTCGTGCTAGGGATGA	0.448000													13	163					0	0	0.411799	0	0
Unknown	0	broad.mit.edu	37	9	114371493	114371493	+	RNA	SNP	C	T	T	rs12351897	by1000genomes	TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr9:114371493C>T	uc004bfk.3	-	2		c.307G>A								Homo sapiens chromosome 9 open reading frame 29, mRNA (cDNA clone MGC:39589 IMAGE:4838739), complete cds.																		CTTCTCACATCGTTGTTGGGG	0.502000													5	122					0	0	0.184627	0	0
TP53BP2	7159	broad.mit.edu	37	1	223990463	223990465	+	In_Frame_Del	DEL	CTT	-	-			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:223990463_223990465delCTT	uc010pvb.1	-	8	1256_1258	c.964_966delAAG	c.(964-966)AAGdel	p.K322del	TP53BP2_uc001hod.2_In_Frame_Del_p.K193del|TP53BP2_uc010puz.1_5'Flank|TP53BP2_uc010pva.1_5'Flank	NM_001031685	NP_001026855	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2 isoform 1	316					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			ovary(2)|lung(1)	3				GBM - Glioblastoma multiforme(131;0.0958)		GTAGAGCTGCCTTCTTCTTCCAC	0.463													7	162	---	---	---	---					
RBM5	10181	broad.mit.edu	37	3	50155888	50155889	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:50155888_50155889delGA	uc003cyg.2	+	25	2595_2596	c.2447_2448delGA	c.(2446-2448)TGAfs	p.*816fs	RBM5_uc011bdk.1_Frame_Shift_Del_p.*644fs|RBM5_uc003cyh.2_Frame_Shift_Del_p.*273fs|uc003cyi.1_Intron	NM_005778	NP_005769	P52756	RBM5_HUMAN	RNA binding motif protein 5	816					apoptosis|negative regulation of cell proliferation|positive regulation of apoptosis|regulation of alternative nuclear mRNA splicing, via spliceosome|spliceosome assembly	nucleoplasm|spliceosomal complex	DNA binding|mRNA binding|nucleotide binding|protein binding|zinc ion binding			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;0.000121)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGATGgagtgagagagagaga	0.470													7	20	---	---	---	---					
PIK3CA	5290	broad.mit.edu	37	3	178928078	178928080	+	In_Frame_Del	DEL	AGA	-	-			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:178928078_178928080delAGA	uc003fjk.2	+	8	1513_1515	c.1356_1358delAGA	c.(1354-1359)TTAGAA>TTA	p.E453del		NM_006218	NP_006209	P42336	PK3CA_HUMAN	phosphoinositide-3-kinase, catalytic, alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(5)|p.E453Q(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)|p.E453del(1)		breast(1564)|large_intestine(776)|endometrium(246)|urinary_tract(195)|ovary(141)|skin(112)|stomach(98)|thyroid(77)|central_nervous_system(69)|lung(65)|upper_aerodigestive_tract(58)|haematopoietic_and_lymphoid_tissue(27)|cervix(25)|biliary_tract(22)|liver(20)|oesophagus(17)|pancreas(11)|penis(8)|pituitary(8)|autonomic_ganglia(4)|prostate(3)|kidney(2)|meninges(1)|eye(1)|NS(1)|soft_tissue(1)|bone(1)	3553	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CTCATGGATTAGAAGATTTGCTG	0.350		57	Mis		colorectal|gastric|gliobastoma|breast					HNSCC(19;0.045)|TSP Lung(28;0.18)			8	102	---	---	---	---					
PIK3R1	5295	broad.mit.edu	37	5	67589147	67589149	+	In_Frame_Del	DEL	AAA	-	-			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr5:67589147_67589149delAAA	uc003jva.2	+	10	1695_1697	c.1135_1137delAAA	c.(1135-1137)AAAdel	p.K379del	PIK3R1_uc003jvb.2_In_Frame_Del_p.K379del|PIK3R1_uc003jvc.2_In_Frame_Del_p.K79del|PIK3R1_uc003jvd.2_In_Frame_Del_p.K109del|PIK3R1_uc003jve.2_In_Frame_Del_p.K58del|PIK3R1_uc011crb.1_In_Frame_Del_p.K49del	NM_181523	NP_852664	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1	379	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(1)		endometrium(34)|central_nervous_system(27)|large_intestine(20)|breast(7)|ovary(5)|haematopoietic_and_lymphoid_tissue(3)|lung(2)|urinary_tract(1)|skin(1)|pancreas(1)	101		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GGGAAATAACAAATTAATCAAAA	0.310			Mis|F|O		gliobastoma|ovarian|colorectal					TCGA GBM(4;<1E-08)			11	69	---	---	---	---					
HIST1H2BF	8343	broad.mit.edu	37	6	26199854	26199856	+	In_Frame_Del	DEL	AGA	-	-	rs150784470		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:26199854_26199856delAGA	uc003ngx.2	+	1	68_70	c.68_70delAGA	c.(67-72)CAGAAG>CAG	p.K25del	HIST1H3D_uc003ngv.2_5'Flank|HIST1H2AD_uc003ngw.2_5'Flank	NM_003522	NP_003513	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	25					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding				0		all_hematologic(11;0.196)				ACCAAGGCGCAGAAGAAGGATGG	0.522													61	132	---	---	---	---					
BACH2	60468	broad.mit.edu	37	6	90660233	90660235	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:90660233_90660235delTCC	uc011eab.1	-	7	2399_2401	c.1590_1592delGGA	c.(1588-1593)GAGGAC>GAC	p.E530del	BACH2_uc003pnw.2_In_Frame_Del_p.E530del|BACH2_uc010kch.2_In_Frame_Del_p.E530del	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper	530						nucleus	protein dimerization activity|sequence-specific DNA binding			ovary(3)|pancreas(1)|lung(1)|skin(1)	6		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCCGCTCCCGTCCTCCGCGTAGG	0.616													19	63	---	---	---	---					
NOTCH1	4851	broad.mit.edu	37	9	139413067	139413069	+	In_Frame_Del	DEL	AGT	-	-			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr9:139413067_139413069delAGT	uc004chz.2	-	6	1073_1075	c.1073_1075delACT	c.(1072-1077)TACTGC>TGC	p.Y358del		NM_017617	NP_060087	P46531	NOTC1_HUMAN	notch1 preproprotein	358	Extracellular (Potential).|EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			haematopoietic_and_lymphoid_tissue(791)|upper_aerodigestive_tract(29)|lung(13)|central_nervous_system(10)|breast(9)|large_intestine(1)|skin(1)|oesophagus(1)|pancreas(1)	856	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGACACTCGCAGTAGAAGGAGGC	0.655			T|Mis|O	TRB@	T-ALL					HNSCC(8;0.001)			7	29	---	---	---	---					
