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
TUBB8P7	0	broad.mit.edu	37	16	90161578	90161578	+	RNA	SNP	G	G	A	rs13337896	by1000genomes	TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr16:90161578G>A	ENST00000567960.1	+	0	314				TUBB8P7_ENST00000564451.1_RNA														p.R105H(3)									GCCAAGGGACGCTACACCGAA	0.587000													5	42					0	0	1	0	0
SLC39A1	27173	broad.mit.edu	37	1	153932932	153932932	+	Missense_Mutation	SNP	C	C	T	rs146586677	byFrequency	TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:153932932C>T	ENST00000368623.3	-	3	1376	c.617G>A	c.(616-618)cGg>cAg	p.R206Q	SLC39A1_ENST00000310483.6_Missense_Mutation_p.R206Q|SLC39A1_ENST00000368621.1_Missense_Mutation_p.R206Q|SLC39A1_ENST00000356205.4_Missense_Mutation_p.R206Q|SLC39A1_ENST00000537590.1_Missense_Mutation_p.R104Q			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	206						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	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	1	0	0
NUP155	9631	broad.mit.edu	37	5	37309323	37309323	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr5:37309323T>C	ENST00000231498.3	-	24	2878	c.2675A>G	c.(2674-2676)gAa>gGa	p.E892G	NUP155_ENST00000381843.2_Missense_Mutation_p.E833G|NUP155_ENST00000513532.1_Missense_Mutation_p.E828G|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	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			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTTTCTTTTTCAGTCTTATT	0.343000													9	23					0	0	1	0	0
MAP3K4	4216	broad.mit.edu	37	6	161470895	161470895	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:161470895G>C	ENST00000392142.4	+	3	1739	c.1591G>C	c.(1591-1593)Gac>Cac	p.D531H	MAP3K4_ENST00000348824.7_Missense_Mutation_p.D531H|MAP3K4_ENST00000366919.2_Missense_Mutation_p.D531H|MAP3K4_ENST00000366920.2_Missense_Mutation_p.D531H	NM_005922.2	NP_005913.2	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			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		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	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	by1000genomes	TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr16:90161926T>C	ENST00000567960.1	+	0	662				TUBB8P7_ENST00000564451.1_RNA														p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527000													4	37					0	0	1	0	0
FLRT3	23767	broad.mit.edu	37	20	14306271	14306271	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr20:14306271T>C	ENST00000378053.3	-	2	2138	c.1882A>G	c.(1882-1884)Agt>Ggt	p.S628G	MACROD2_ENST00000217246.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.S628G|MACROD2_ENST00000310348.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	628					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CTGCTTTCACTGTGATTGTTT	0.413000													18	135					0	0	1	0	0
GK2	2712	broad.mit.edu	37	4	80328636	80328636	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr4:80328636T>C	ENST00000358842.3	-	1	736	c.719A>G	c.(718-720)tAt>tGt	p.Y240C		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	240					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AATTAGGCCATAGATCTCAGA	0.423000													37	98					0	0	1	0	0
DLK2	65989	broad.mit.edu	37	6	43418774	43418774	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:43418774G>A	ENST00000357338.3	-	6	1355	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	DLK2_ENST00000414245.1_Missense_Mutation_p.R213C|DLK2_ENST00000372485.1_Missense_Mutation_p.R213C|DLK2_ENST00000372488.3_Missense_Mutation_p.R219C	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	219	EGF-like 6; calcium-binding (Potential).					integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	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	1	0	0
KERA	11081	broad.mit.edu	37	12	91449544	91449544	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr12:91449544T>C	ENST00000266719.3	-	2	762	c.515A>G	c.(514-516)gAc>gGc	p.D172G		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	172					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTTCTGTAGGTCAAGAAGGGT	0.413000													49	149					0	0	1	0	0
FRK	2444	broad.mit.edu	37	6	116265543	116265543	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:116265543G>A	ENST00000606080.1	-	6	1450	c.1004C>T	c.(1003-1005)gCg>gTg	p.A335V	FRK_ENST00000538210.1_Missense_Mutation_p.A193V	NM_002031.2	NP_002022.1	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			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		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	1	0	0
MLLT3	4300	broad.mit.edu	37	9	20414343	20414343	+	Silent	SNP	A	A	G			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr9:20414343A>G	ENST00000380338.4	-	5	787	c.501T>C	c.(499-501)agT>agC	p.S167S	MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S164S|MLLT3_ENST00000355930.6_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	167	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.S167S(19)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctgctactgctgctgc	0.532000			T	MLL	ALL								8	78					0	0	1	0	0
CPEB2	132864	broad.mit.edu	37	4	15060817	15060817	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr4:15060817A>T	ENST00000538197.1	+	10	2587	c.2587A>T	c.(2587-2589)Ata>Tta	p.I863L	CPEB2_ENST00000507071.1_Missense_Mutation_p.I418L|CPEB2_ENST00000382401.3_Missense_Mutation_p.I391L|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000382395.3_Missense_Mutation_p.I396L|CPEB2_ENST00000541112.1_Missense_Mutation_p.I855L|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000259997.5_Missense_Mutation_p.I426L|CPEB2_ENST00000345451.3_Missense_Mutation_p.I388L|CPEB2_ENST00000442003.2_Missense_Mutation_p.I836L	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	418					regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						ATAGGTTCAAATACGTCCTTG	0.348000													5	59					0	0	1	0	0
HRNR	388697	broad.mit.edu	37	1	152191242	152191242	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:152191242A>G	ENST00000368801.2	-	3	2938	c.2863T>C	c.(2863-2865)Tcc>Ccc	p.S955P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	955					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	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	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(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								16	70					0	0	1	0	0
UGT2B28	54490	broad.mit.edu	37	4	70155435	70155435	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr4:70155435G>A	ENST00000335568.5	+	4	1057	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	352					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CTCAATACTCGGCTGTATAAG	0.363000													30	36					0	0	1	0	0
KIF6	221458	broad.mit.edu	37	6	39513390	39513390	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:39513390C>T	ENST00000287152.7	-	11	1350	c.1256G>A	c.(1255-1257)cGt>cAt	p.R419H	KIF6_ENST00000373216.3_Missense_Mutation_p.R419H|KIF6_ENST00000373213.4_Missense_Mutation_p.R258H|KIF6_ENST00000373215.3_Missense_Mutation_p.R419H|KIF6_ENST00000538893.1_Missense_Mutation_p.R419H	NM_145027.4	NP_659464.3	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)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATGAACTTTACGCATATCCGC	0.358000													27	65					0	0	1	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713407	142713407	+	RNA	SNP	C	C	T	rs142431664	by1000genomes	TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:142713407C>T	ENST00000369381.2	-	0	1198																											CAGTAAGAAACTCATTCTTAT	0.318000													6	32					0	0	1	0	0
NETO1	81832	broad.mit.edu	37	18	70417415	70417415	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr18:70417415T>C	ENST00000327305.6	-	9	2080	c.1423A>G	c.(1423-1425)Atc>Gtc	p.I475V	NETO1_ENST00000583169.1_Missense_Mutation_p.I475V|NETO1_ENST00000299430.2_Missense_Mutation_p.I474V	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	475					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			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATGACAAGGATATTTCTTCTG	0.507000													13	45					0	0	1	0	0
WISP2	8839	broad.mit.edu	37	20	43348625	43348625	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr20:43348625T>G	ENST00000372868.2	+	3	491	c.148T>G	c.(148-150)Tgt>Ggt	p.C50G	RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000190983.4_Missense_Mutation_p.C50G|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000372865.4_Missense_Mutation_p.C50G|RP11-445H22.4_ENST00000445420.1_RNA			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	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178917478	178917478	+	Splice_Site	SNP	G	G	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.352_splice	c.e3-1	p.G118_splice		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit 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(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit 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.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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	1	0	0
TUBB8P7	0	broad.mit.edu	37	16	90161902	90161902	+	RNA	SNP	A	A	G	rs6500471	by1000genomes	TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr16:90161902A>G	ENST00000567960.1	+	0	638				TUBB8P7_ENST00000564451.1_RNA														p.K213R(8)									ATATGTTCCAAGACCCTAAAA	0.537000													4	37					0	0	1	0	0
RREB1	6239	broad.mit.edu	37	6	7231010	7231010	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:7231010C>T	ENST00000379938.2	+	10	3215	c.2678C>T	c.(2677-2679)gCg>gTg	p.A893V	RREB1_ENST00000349384.6_Missense_Mutation_p.A893V|RREB1_ENST00000334984.6_Missense_Mutation_p.A893V|RREB1_ENST00000379933.3_Missense_Mutation_p.A893V	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	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	p.A893V(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGTAGCTTTGCGGTGGACTTC	0.592000													5	63					0	0	1	0	0
RAB11FIP1	80223	broad.mit.edu	37	8	37734856	37734856	+	Silent	SNP	G	G	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr8:37734856G>A	ENST00000330843.4	-	2	597	c.585C>T	c.(583-585)agC>agT	p.S195S	RAB11FIP1_ENST00000287263.4_Silent_p.S195S|RAB11FIP1_ENST00000522727.1_Silent_p.S47S|RAB11FIP1_ENST00000524118.1_Silent_p.S47S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	195					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		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	1	0	0
FSCB	84075	broad.mit.edu	37	14	44975038	44975038	+	Silent	SNP	G	G	T			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr14:44975038G>T	ENST00000340446.4	-	1	1444	c.1153C>A	c.(1153-1155)Cgg>Agg	p.R385R		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	385	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GAGGGAGACCGAATTTCACCA	0.532000													12	137					0.00010058	0.000111513	1	1	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22664606	22664606	+	RNA	SNP	A	A	G			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr22:22664606A>G	ENST00000426066.1	+	0	787					NR_027293.1																						GTCTTCATGCAAACTTGGTAT	0.398000													3	25					0	0	1	0	0
NLRP2	55655	broad.mit.edu	37	19	55494669	55494669	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr19:55494669G>A	ENST00000543010.1	+	6	1746	c.1603G>A	c.(1603-1605)Gta>Ata	p.V535I	NLRP2_ENST00000448584.2_Missense_Mutation_p.V535I|NLRP2_ENST00000339757.7_Missense_Mutation_p.V513I|NLRP2_ENST00000427260.2_Missense_Mutation_p.V512I|NLRP2_ENST00000263437.6_Missense_Mutation_p.V532I|NLRP2_ENST00000538819.1_Missense_Mutation_p.V511I|NLRP2_ENST00000537859.1_Missense_Mutation_p.V513I|NLRP2_ENST00000391721.4_Missense_Mutation_p.V511I	NM_001174081.1	NP_001167552.1	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	p.V535I(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CATTGGGGACGTACAGAAGCT	0.557000													4	48					0	0	1	0	0
CD163	9332	broad.mit.edu	37	12	7635248	7635248	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr12:7635248G>A	ENST00000359156.4	-	14	3440	c.3238C>T	c.(3238-3240)Cgg>Tgg	p.R1080W	CD163_ENST00000541972.1_Missense_Mutation_p.R1068W|CD163_ENST00000432237.2_Missense_Mutation_p.R1080W|CD163_ENST00000396620.3_Missense_Mutation_p.R1113W	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1080					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCTGCAAGCCGCTGTCTCTGT	0.428000													52	113					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118222475	118222475	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chrX:118222475C>A	ENST00000402510.2	-	11	2717	c.2718G>T	c.(2716-2718)atG>atT	p.M906I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	906										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GCAGCTGCTGCATAAAATCAT	0.483000													3	23					1	1	1	1	0
LMLN	89782	broad.mit.edu	37	3	197751579	197751579	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:197751579C>G	ENST00000330198.4	+	14	1598	c.1576C>G	c.(1576-1578)Cta>Gta	p.L526V	LMLN_ENST00000482695.1_Missense_Mutation_p.L511V|LMLN_ENST00000420910.2_Missense_Mutation_p.L563V|LMLN_ENST00000332636.5_Missense_Mutation_p.L474V	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	526					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	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	1	0	0
DNMT3A	1788	broad.mit.edu	37	2	25470985	25470985	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr2:25470985G>C	ENST00000264709.3	-	7	1113	c.776C>G	c.(775-777)gCt>gGt	p.A259G	DNMT3A_ENST00000402667.1_Missense_Mutation_p.A36G|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A259G|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A70G	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	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			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCGTGGTAGCCACAGTGGG	0.647000			"""Mis, F, N, S"""		AML								23	54					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78420962	78420962	+	Nonsense_Mutation	SNP	C	C	T			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:78420962C>T	ENST00000370767.1	-	18	1845	c.1758G>A	c.(1756-1758)tgG>tgA	p.W586*	FUBP1_ENST00000370768.2_Nonsense_Mutation_p.W586*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.W607*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	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(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGTACTCTTCCCAAGCCTTGG	0.318000			"""F, N"""		oligodendroglioma								9	22					0	0	1	0	0
TSHZ2	128553	broad.mit.edu	37	20	51873020	51873020	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr20:51873020C>T	ENST00000371497.5	+	2	3910	c.3023C>T	c.(3022-3024)gCg>gTg	p.A1008V	TSHZ2_ENST00000329613.6_Missense_Mutation_p.A1005V|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A1005V|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1008					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGCAAACATGCGGTAAAACTC	0.468000													19	59					0	0	1	0	0
TP53BP2	7159	broad.mit.edu	37	1	223990463	223990465	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:223990463_223990465delCTT	ENST00000391878.2	-	9	1345_1347	c.577_579delAAG	c.(577-579)del	p.K193del	TP53BP2_ENST00000343537.7_In_Frame_Del_p.K322del	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	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			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GTAGAGCTGCCTTCTTCTTCCAC	0.463													7	162	---	---	---	---					
PIK3CA	5290	broad.mit.edu	37	3	178928078	178928080	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:178928078_178928080delAGA	ENST00000263967.3	+	8	1513_1515	c.1356_1358delAGA	c.(1354-1359)tta>tt	p.LE452del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	452	C2 PI3K-type.				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(11)|p.E453Q(5)|p.H450fs*9(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	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	AAA	-			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr5:67589147_67589149delAAA	ENST00000521381.1	+	10	1751_1753	c.1135_1137delAAA	c.(1135-1137)del	p.K379del	PIK3R1_ENST00000523872.1_In_Frame_Del_p.K16del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.K109del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.K379del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.K379del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.K79del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.K379del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	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.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		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	AGA	-	rs150784470		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:26199854_26199856delAGA	ENST00000359985.1	+	1	107_109	c.68_70delAGA	c.(67-72)cag>c	p.QK23del		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	23					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				ACCAAGGCGCAGAAGAAGGATGG	0.522													61	132	---	---	---	---					
BACH2	60468	broad.mit.edu	37	6	90660233	90660235	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:90660233_90660235delTCC	ENST00000257749.4	-	7	2297_2299	c.1590_1592delGGA	c.(1588-1593)gac>ga	p.ED530del	RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_In_Frame_Del_p.ED530del|BACH2_ENST00000343122.3_In_Frame_Del_p.ED530del	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	530						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		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	AGT	-			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr9:139413067_139413069delAGT	ENST00000277541.6	-	6	1148_1150	c.1073_1075delACT	c.(1072-1077)tgc>t	p.YC358del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	358	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			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	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	---	---	---	---					
GAGE2D	729408	broad.mit.edu	37	X	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(22-27)acatcg>acTATatcg	p.8_9TS>TIS		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													4	7	---	---	---	---					
