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
COL4A1	1282	broad.mit.edu	37	13	110813712	110813712	+	Silent	SNP	C	T	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr13:110813712C>T	uc001vqw.4	-	48	4589	c.4467G>A	c.(4465-4467)acG>acA	p.T1489T		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1489	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGCTGCCGGCCGTGCCTAGAC	0.438000														17			3		0	0	0.115264	0	0
TRIM58	25893	broad.mit.edu	37	1	248028032	248028032	+	Missense_Mutation	SNP	G	A	A	rs147592698	by1000genomes	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:248028032G>A	uc001ido.3	+	2	590	c.542G>A	c.(541-543)cGc>cAc	p.R181H		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	181						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGAGGCAGCGCTTCAGATTG	0.592000														29			6		0	0	0.248553	0	0
PTPRH	5794	broad.mit.edu	37	19	55693461	55693461	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr19:55693461G>A	uc002qjq.3	-	18	3194	c.3121C>T	c.(3121-3123)Cag>Tag	p.Q1041*	PTPRH_uc010esv.3_Nonsense_Mutation_p.Q863*|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	1041	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q1041E(2)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCCTCGGACTGCAGCTGCCGG	0.607000														94			7		0	0	0.248553	0	0
TMEM189-UBE2V1	387522	broad.mit.edu	37	20	48700714	48700714	+	Silent	SNP	T	C	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr20:48700714T>C	uc002xva.3	-	2	294	c.249A>G	c.(247-249)agA>agG	p.R83R	TMEM189-UBE2V1_uc002xvf.3_Silent_p.R306R|TMEM189-UBE2V1_uc002xvb.3_Non-coding_Transcript|TMEM189-UBE2V1_uc002xvc.3_Silent_p.R39R|TMEM189-UBE2V1_uc002xvd.3_Silent_p.R106R|TMEM189-UBE2V1_uc002xve.3_Silent_p.R106R	NM_001032288	NP_001027459	A5PLL7	TM189_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2 variant 1 (UBE2V1), transcript variant 4, mRNA.	0						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(4)|large_intestine(6)|lung(6)	17			BRCA - Breast invasive adenocarcinoma(9;8.29e-07)			TTGTTACAAATCTTACAAAGG	0.358000														108			23		0	0	0.608945	0	0
ARMC3	219681	broad.mit.edu	37	10	23248333	23248333	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr10:23248333G>C	uc001irm.4	+	5	450	c.367G>C	c.(367-369)Gta>Cta	p.V123L	ARMC3_uc010qcv.2_Missense_Mutation_p.V123L|ARMC3_uc010qcw.2_Intron|ARMC3_uc001irn.1_Missense_Mutation_p.V35L	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	123							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CACAGAAGAAGTAGTTATCCA	0.363000														43			4		0	0	0.150653	0	0
OR5A1	219982	broad.mit.edu	37	11	59211138	59211138	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr11:59211138T>C	uc001nnx.1	+	0	497	c.497T>C	c.(496-498)aTa>aCa	p.I166T		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GCCAGCTCCATATTTAGGCTT	0.542000														294			44		0	0	0.870114	0	0
CCDC158	339965	broad.mit.edu	37	4	77317545	77317545	+	Silent	SNP	A	G	G			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr4:77317545A>G	uc003hkb.4	-	2	318	c.165T>C	c.(163-165)ccT>ccC	p.P55P	CCDC158_uc003hkd.3_Silent_p.P55P	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	55										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTTCATATTTAGGGAAAAAAG	0.358000														57			5		0	0	0.184627	0	0
BAGE1	0	broad.mit.edu	37	GL000237.1	2582	2582	+	RNA	SNP	C	T	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chrGL000237.1:2582C>T	uc011mgu.1	-	0		c.105G>A								Homo sapiens B melanoma antigen variant f (BAGE1) mRNA, complete cds, alternatively spliced.																		cagagcgagacgagccacggt	0.607000														10			7		0	0	0.278610	0	0
EPHX1	2052	broad.mit.edu	37	1	226032903	226032903	+	Missense_Mutation	SNP	C	T	T	rs45495897	byFrequency	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:226032903C>T	uc001hpk.3	+	8	1303	c.1223C>T	c.(1222-1224)aCg>aTg	p.T408M	EPHX1_uc001hpl.3_Missense_Mutation_p.T408M	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	408			T -> M (in dbSNP:rs45495897).		aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	p.T408K(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CTATTGCACACGCCTGAAAAG	0.567000														84			9		0	0	0.361761	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	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									64			9		0	0	0.335167	0	0
REXO1L1	254958	broad.mit.edu	37	8	86573699	86573699	+	Silent	SNP	C	T	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:86573699C>T	uc022axf.1	-	0	2028	c.2028G>A	c.(2026-2028)taG>taA	p.*676*		NM_172239	NP_758439	Q8IX06	GOR_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae)-like 1 (REXO1L1), mRNA.	0						cytoplasm|nucleus	exonuclease activity|nucleic acid binding			endometrium(1)|lung(4)	5						AGGCCTGGGGCTAAGGACAGG	0.682000														34			5		0	0	0.248553	0	0
RYR1	6261	broad.mit.edu	37	19	39055678	39055678	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr19:39055678G>A	uc002oit.3	+	90	12834	c.12704G>A	c.(12703-12705)aGt>aAt	p.S4235N	RYR1_uc002oiu.3_Missense_Mutation_p.S4230N|RYR1_uc002oiv.1_Missense_Mutation_p.S1144N	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4235					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	I band|cell cortex|cytosol|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTCTTCGTGAGTTTCTGCGAG	0.657000														1			4		0	0	0.150653	0	0
AL117485	0	broad.mit.edu	37	22	18844763	18844763	+	RNA	SNP	T	C	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr22:18844763T>C	uc002zoe.3	+	3		c.2017T>C			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		TCACAGCCTCTGAGGGCAGCA	0.562000														7			2		0	0	0.115264	0	0
PLA2G4A	5321	broad.mit.edu	37	1	186863284	186863284	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:186863284T>G	uc001gsc.3	+	4	524	c.319T>G	c.(319-321)Ttt>Gtt	p.F107V	PLA2G4A_uc010pos.2_Missense_Mutation_p.F107V	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	107	Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GACAGCAACATTTACTGTATC	0.333000														46			20		0	0	0.654019	0	0
ANKRD30A	91074	broad.mit.edu	37	10	37442521	37442521	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr10:37442521C>A	uc021ppc.1	+	12	1660	c.1561C>A	c.(1561-1563)Cag>Aag	p.Q521K	ANKRD30A_uc001iza.1_Missense_Mutation_p.Q521K	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	577						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GACTGTTTCACAGAAGGATGT	0.274000														95			15		1.33834e-09	1.3651e-09	0.557998	1	0
AKAP3	10566	broad.mit.edu	37	12	4737521	4737521	+	Missense_Mutation	SNP	C	T	T	rs140759485		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr12:4737521C>T	uc001qnb.4	-	3	791	c.547G>A	c.(547-549)Gtc>Atc	p.V183I		NM_006422	NP_006413	O75969	AKAP3_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 3 (AKAP3), mRNA.	183					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CATGCAGAGACGGTCTCATTC	0.478000														118			25		0	0	0.654019	0	0
AL117485	0	broad.mit.edu	37	22	18844888	18844888	+	RNA	SNP	A	G	G			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr22:18844888A>G	uc002zoe.3	+	3		c.2142A>G			AL117485_uc002zof.3_5'Flank					Homo sapiens cDNA FLJ76361 complete cds.																		GCTCACGGAAATACAGCTTCA	0.587000														63			4		0	0	0.150653	0	0
AK022914	0	broad.mit.edu	37	22	16151010	16151010	+	RNA	SNP	T	C	C	rs143820047	by1000genomes	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr22:16151010T>C	uc002zks.4	-	7		c.1647A>G								Homo sapiens cDNA FLJ12852 fis, clone NT2RP2003445.																		AGTTGTTCTCTGGAATCAATC	0.393000														12			4		0	0	0.150653	0	0
ENPP2	5168	broad.mit.edu	37	8	120628508	120628508	+	Missense_Mutation	SNP	T	A	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:120628508T>A	uc003yos.2	-	7	860	c.774A>T	c.(772-774)caA>caT	p.Q258H	ENPP2_uc010mdd.2_Missense_Mutation_p.Q258H|ENPP2_uc003yot.2_Missense_Mutation_p.Q258H	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	258					G-protein coupled receptor protein signaling pathway|cellular component movement|chemotaxis|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AACTTACCGGTTGACCTCCCC	0.378000														62			10		0	0	0.361761	0	0
AP1G2	8906	broad.mit.edu	37	14	24035874	24035874	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr14:24035874C>T	uc001wkl.2	-	2	563	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	AP1G2_uc001wkk.3_Intron|AP1G2_uc001wkn.2_Intron|AX747770_uc001wko.1_Non-coding_Transcript|AP1G2_uc001wkp.1_5'Flank|AP1G2_uc010tnp.1_Missense_Mutation_p.A76T|AP1G2_uc010aks.3_Intron|AP1G2_uc010akt.3_Intron|AP1G2_uc010tnq.1_Intron	NM_003917	NP_003908	O75843	AP1G2_HUMAN	Homo sapiens adaptor-related protein complex 1, gamma 2 subunit (AP1G2), mRNA.	76					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CTGGAGGAGGCGATCAGTTTC	0.527000														114			18		0	0	0.557998	0	0
DDX11L11	0	broad.mit.edu	37	12	92018	92018	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr12:92018T>C	uc010sdi.1	-	1	320	c.292A>G	c.(292-294)Agt>Ggt	p.S98G	DDX11L11_uc010sdj.1_Non-coding_Transcript					SubName: Full=DEAD/H box polypeptide 11 like 11;																		GACTCCACACTCTCCTGGGTT	0.592000														8			2		0	0	0.150653	0	0
FAM154A	158297	broad.mit.edu	37	9	18928829	18928829	+	Missense_Mutation	SNP	C	T	T	rs117915008	by1000genomes	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr9:18928829C>T	uc003zni.2	-	3	996	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	FAM154A_uc010mip.2_Missense_Mutation_p.V24M	NM_153707	NP_714918	Q8IYX7	F154A_HUMAN	Homo sapiens family with sequence similarity 154, member A (FAM154A), mRNA.	216								p.P215A(1)|p.P215P(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CGCTTCTCCACGGGGTGGGCC	0.507000														73			15		0	0	0.500413	0	0
RPL23AP32	56969	broad.mit.edu	37	2	54756736	54756736	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr2:54756736T>C	uc010yot.1	+	0	378	c.254T>C	c.(253-255)tTt>tCt	p.F85S	SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron					Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																		ACCACTGAGTTTGCCATGAAG	0.483000														44			4		0	0	0.150653	0	0
FUBP1	8880	broad.mit.edu	37	1	78435643	78435643	+	Silent	SNP	A	C	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:78435643A>C	uc001dii.3	-	1	266	c.177T>G	c.(175-177)ggT>ggG	p.G59G	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Silent_p.G59G	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	59					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						GTCCCCCATAACCATAGTCAT	0.308000			"""F, N"""		oligodendroglioma									31			13		0	0	0.479597	0	0
SLC43A2	124935	broad.mit.edu	37	17	1516558	1516558	+	Silent	SNP	G	A	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr17:1516558G>A	uc002fsu.3	-	4	739	c.432C>T	c.(430-432)tcC>tcT	p.S144S	SLC43A2_uc002fsv.3_Silent_p.S144S|SLC43A2_uc002fsw.3_Silent_p.S144S|SLC43A2_uc002fsx.3_Silent_p.S144S	NM_152346	NP_689559	Q8N370	LAT4_HUMAN	Homo sapiens solute carrier family 43, member 2 (SLC43A2), mRNA.	144					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		AGATGAGCACGGAGAGAGCTG	0.552000														25			4		0	0	0.217242	0	0
OR2Z1	284383	broad.mit.edu	37	19	8841797	8841797	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr19:8841797T>C	uc010xkg.2	+	0	407	c.407T>C	c.(406-408)aTg>aCg	p.M136T		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTGTACTTATGAGACGCCAG	0.547000														98			24		0	0	0.667858	0	0
CHRM1	1128	broad.mit.edu	37	11	62677198	62677198	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr11:62677198G>A	uc021qko.1	-	0	1375	c.1375C>T	c.(1375-1377)Caa>Taa	p.Q459*	CHRM1_uc001nwi.3_Nonsense_Mutation_p.Q459*	NM_000738	NP_000729	P11229	ACM1_HUMAN	Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA.	459					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	TATCAGCATTGGCGGGAGGGA	0.682000														95			19		0	0	0.557998	0	0
PCSK2	5126	broad.mit.edu	37	20	17339014	17339014	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr20:17339014C>T	uc002wpm.3	+	2	679	c.325C>T	c.(325-327)Cga>Tga	p.R109*	PCSK2_uc002wpl.3_Nonsense_Mutation_p.R90*|PCSK2_uc010zrm.2_Nonsense_Mutation_p.R74*	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	109					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCGAAAAAAGCGAGGTTACAG	0.398000														54			7		0	0	0.248553	0	0
DOCK5	80005	broad.mit.edu	37	8	25181376	25181376	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:25181376C>T	uc003xeg.3	+	16	1765	c.1628C>T	c.(1627-1629)tCg>tTg	p.S543L	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.S257L|DOCK5_uc003xei.3_Missense_Mutation_p.S113L|DOCK5_uc003xej.3_5'Flank	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	543	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGAGATAAATCGGAGCGAGCA	0.532000														12			5		0	0	0.184627	0	0
SLC30A8	169026	broad.mit.edu	37	8	118170064	118170064	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:118170064G>A	uc003yoh.3	+	3	783	c.553G>A	c.(553-555)Gca>Aca	p.A185T	SLC30A8_uc010mcz.3_Missense_Mutation_p.A136T|SLC30A8_uc003yog.3_Missense_Mutation_p.A136T|SLC30A8_uc011lia.2_Missense_Mutation_p.A136T|SLC30A8_uc022bab.1_Missense_Mutation_p.A136T	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	185					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TTCCAGCTGCGCAGTGGCGGC	0.527000														89			17		0	0	0.539581	0	0
UBR5	51366	broad.mit.edu	37	8	103297901	103297901	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:103297901C>T	uc003ykr.2	-	38	5779	c.5324G>A	c.(5323-5325)aGc>aAc	p.S1775N	UBR5_uc003yks.2_Missense_Mutation_p.S1775N	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	1775					cell proliferation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of protein import into nucleus, translocation|progesterone receptor signaling pathway|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to DNA damage stimulus	nucleus|soluble fraction	RNA binding|protein binding|ubiquitin-ubiquitin ligase activity|zinc ion binding			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			TAGGTAACTGCTGGCGTTGCT	0.463000														77			19		0	0	0.557998	0	0
SLCO4C1	353189	broad.mit.edu	37	5	101592891	101592891	+	Missense_Mutation	SNP	G	A	A	rs145600550		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr5:101592891G>A	uc003knm.3	-	7	1684	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	466					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AAAACTCAGCGTAAGTGCAAC	0.353000														45			5		0	0	0.217242	0	0
REM2	161253	broad.mit.edu	37	14	23354154	23354154	+	Silent	SNP	G	A	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr14:23354154G>A	uc001whf.1	+	1	440	c.375G>A	c.(373-375)gtG>gtA	p.V125V	REM2_uc010tnd.1_Silent_p.V117V	NM_173527	NP_775798	Q8IYK8	REM2_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP binding 2 (REM2), mRNA.	125					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		AGAGCGGCGTGGGCAAGAGCA	0.607000														49			15		0	0	0.457914	0	0
LAMA3	3909	broad.mit.edu	37	18	21364088	21364088	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr18:21364088C>T	uc002kuq.3	+	11	1656	c.1570C>T	c.(1570-1572)Cgc>Tgc	p.R524C	LAMA3_uc010dlv.2_Missense_Mutation_p.R524C|LAMA3_uc002kur.3_Missense_Mutation_p.R524C	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	524	Domain V.|Laminin EGF-like 4.				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)	TGATACCTGCCGCTCTGGTTT	0.498000														153			26		0	0	0.654019	0	0
PADI2	11240	broad.mit.edu	37	1	17413096	17413096	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:17413096C>T	uc001baf.3	-	6	836	c.754G>A	c.(754-756)Gtg>Atg	p.V252M	PADI2_uc010ocm.2_Silent_p.S170S|PADI2_uc001bag.1_Missense_Mutation_p.V252M	NM_007365	NP_031391	Q9Y2J8	PADI2_HUMAN	Homo sapiens peptidyl arginine deiminase, type II (PADI2), mRNA.	252					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	AGGCCTTCCACGAAGAACAGC	0.617000														59			12		0	0	0.411799	0	0
EDEM3	80267	broad.mit.edu	37	1	184723669	184723669	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:184723669T>C	uc010pom.2	-	0	373	c.112A>G	c.(112-114)Acg>Gcg	p.T38A	EDEM3_uc010pok.2_Missense_Mutation_p.T38A|EDEM3_uc010pol.2_Non-coding_Transcript|EDEM3_uc001gqy.3_5'UTR	NM_025191	NP_079467	Q9BZQ6	EDEM3_HUMAN	Homo sapiens ER degradation enhancer, mannosidase alpha-like 3 (EDEM3), mRNA.	38					post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCCCCCGCCGTCCACACGGAG	0.692000														42			4		0	0	0.184627	0	0
DMBX1	127343	broad.mit.edu	37	1	46976279	46976279	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:46976279C>T	uc001cpx.3	+	1	316	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	DMBX1_uc001cpw.3_Missense_Mutation_p.R96C	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	101	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					TGTGGTGATGCGTGAGAGGCT	0.602000														29			3		0	0	0.184627	0	0
RPL23AP32	56969	broad.mit.edu	37	2	54756737	54756737	+	Silent	SNP	T	C	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr2:54756737T>C	uc010yot.1	+	0	379	c.255T>C	c.(253-255)ttT>ttC	p.F85F	SPTBN1_uc002rxu.3_Intron|SPTBN1_uc002rxv.1_Intron					Homo sapiens ribosomal protein L23a pseudogene 32 (RPL23AP32), non-coding RNA.																		CCACTGAGTTTGCCATGAAGA	0.478000														44			4		0	0	0.150653	0	0
CTSZ	1522	broad.mit.edu	37	20	57576621	57576621	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr20:57576621G>A	uc002yai.2	-	2	512	c.386C>T	c.(385-387)gCt>gTt	p.A129V	CTSZ_uc002yaj.4_Missense_Mutation_p.A129V	NM_001336	NP_001327	Q9UBR2	CATZ_HUMAN	Homo sapiens cathepsin Z (CTSZ), mRNA.	129			A -> R (requires 2 nucleotide substitutions).		proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			ACAGGAGCCAGCGTTACCGCA	0.602000														57			11		0	0	0.387290	0	0
FUBP1	8880	broad.mit.edu	37	1	78435640	78435640	+	Nonsense_Mutation	SNP	A	C	C			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:78435640A>C	uc001dii.3	-	1	269	c.180T>G	c.(178-180)taT>taG	p.Y60*	FUBP1_uc001dih.4_Non-coding_Transcript|FUBP1_uc010orm.2_Nonsense_Mutation_p.Y60*	NM_003902	NP_003893	Q96AE4	FUBP1_HUMAN	Homo sapiens far upstream element (FUSE) binding protein 1 (FUBP1), mRNA.	60					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						TTTGTCCCCCATAACCATAGT	0.303000			"""F, N"""		oligodendroglioma									29			13		0	0	0.457914	0	0
EIF2C1	26523	broad.mit.edu	37	1	36379854	36379855	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:36379854_36379855insA	uc001bzl.3	+	13	2025_2026	c.1812_1813insA	c.(1810-1815)gggaaafs	p.G604fs	EIF2C1_uc001bzk.3_Frame_Shift_Ins_p.G529fs|EIF2C1_uc009vuy.3_Non-coding_Transcript	NM_012199	NP_036331	Q9UL18	AGO1_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 1 (EIF2C1), mRNA.	604	Piwi.				negative regulation of translation involved in gene silencing by miRNA|nuclear-transcribed mRNA catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|polysome	RNA binding|protein binding			biliary_tract(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|prostate(1)|skin(6)|urinary_tract(1)	36		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CAGGGGATGGGAAAAAACCTTC	0.480													---	65	---	---	19	---					
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	-	-	rs112040677		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr2:131129929_131129934delGACGGG	uc002trc.3	+	12	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_uc002trb.3_In_Frame_Del_p.TG271del|PTPN18_uc002tre.3_In_Frame_Del_p.TG29del	NM_014369	NP_055184	Q99952	PTN18_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.	378				Missing (in Ref. 1; CAA56105).		cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													---	4	---	---	4	---					
SPEG	10290	broad.mit.edu	37	2	220349218	220349219	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr2:220349218_220349219delCT	uc010fwg.3	+	29	7033_7034	c.7033_7034delCT	c.(7033-7035)ctgfs	p.L2345fs		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2345	Arg-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGAGTCGCCCCTGTCGCTGGGG	0.698													---	14	---	---	7	---					
SFR1	119392	broad.mit.edu	37	10	105882649	105882653	+	Frame_Shift_Del	DEL	AATAT	-	-			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr10:105882649_105882653delAATAT	uc001kxv.3	+	0	703_707	c.126_130delAATAT	c.(124-132)acaatatatfs	p.T42fs	SFR1_uc001kxs.3_Intron|SFR1_uc001kxt.3_Intron|SFR1_uc001kxu.3_Intron	NM_145247	NP_660290	Q86XK3	SFR1_HUMAN	Homo sapiens SWI5-dependent recombination repair 1 (SFR1), transcript variant 2, mRNA.	0					double-strand break repair via homologous recombination	Swi5-Sfr1 complex	protein binding										ACACCAATACAATATATTATTTGAT	0.298													---	7	---	---	4	---					
