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
BAGE2	85319	broad.mit.edu	37	21	11058309	11058309	+	RNA	SNP	A	A	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr21:11058309A>G	ENST00000470054.1	-	0	338									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAAAGTGCTTACAAAATGCAC	0.393000													9	195					0	0	1	0	0
DNAH17	8632	broad.mit.edu	37	17	76456336	76456336	+	Missense_Mutation	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:76456336C>T	ENST00000389840.5	-	59	9425	c.9301G>A	c.(9301-9303)Gtc>Atc	p.V3101I	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.V3110I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCTCAGTGACGTTCTGGAAG	0.562000													6	5					0	0	1	0	0
THEMIS	387357	broad.mit.edu	37	6	128134187	128134187	+	Silent	SNP	T	T	C			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr6:128134187T>C	ENST00000368250.1	-	5	1860	c.1362A>G	c.(1360-1362)gaA>gaG	p.E454E	THEMIS_ENST00000368248.2_Silent_p.E533E|THEMIS_ENST00000543064.1_Silent_p.E533E|THEMIS_ENST00000537166.1_Silent_p.E498E			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	533	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CAGTGATCTCTTCTACCAGAG	0.468000													45	58					0	0	1	0	0
FAM64A	54478	broad.mit.edu	37	17	6348641	6348641	+	Missense_Mutation	SNP	C	C	T	rs11538170		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:6348641C>T	ENST00000572447.1	+	2	320	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	FAM64A_ENST00000571373.1_Missense_Mutation_p.R71C|FAM64A_ENST00000570337.2_Missense_Mutation_p.R71C|FAM64A_ENST00000576056.1_Missense_Mutation_p.R71C|FAM64A_ENST00000572595.2_Missense_Mutation_p.R71C|FAM64A_ENST00000250056.8_Missense_Mutation_p.R71C	NM_019013.2	NP_061886.2	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	71						nucleolus	protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		CTCCTGGAAACGCCTGGAAAC	0.627000													20	44					0	0	1	0	0
PDZD7	79955	broad.mit.edu	37	10	102789858	102789858	+	Missense_Mutation	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr10:102789858G>A	ENST00000370215.3	-	2	344	c.119C>T	c.(118-120)aCg>aTg	p.T40M	PDZD7_ENST00000470414.1_Missense_Mutation_p.T40M	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	40						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CAGGTATCGCGTTGCGGTGGA	0.657000													35	30					0	0	1	0	0
STOM	2040	broad.mit.edu	37	9	124111437	124111437	+	Missense_Mutation	SNP	C	C	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr9:124111437C>A	ENST00000286713.2	-	5	503	c.486G>T	c.(484-486)caG>caT	p.Q162H	STOM_ENST00000347359.2_Intron|STOM_ENST00000538954.1_Missense_Mutation_p.Q111H	NM_004099.4	NP_004090.4	P27105	STOM_HUMAN	stomatin	162					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		CAGAGAGGATCTGAGAAAGAT	0.478000													17	10					5.3912e-06	5.60262e-06	1	1	0
JMJD1C	221037	broad.mit.edu	37	10	64975203	64975203	+	Missense_Mutation	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr10:64975203G>A	ENST00000399262.2	-	7	1053	c.835C>T	c.(835-837)Cgt>Tgt	p.R279C	JMJD1C_ENST00000402544.1_Missense_Mutation_p.R60C|JMJD1C_ENST00000489372.2_5'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.R97C|JMJD1C_ENST00000399251.1_Missense_Mutation_p.R60C	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	279					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GCTTGGGCACGTGTATAATGG	0.378000													59	74					0	0	1	0	0
PRRC2B	84726	broad.mit.edu	37	9	134349974	134349974	+	Missense_Mutation	SNP	A	A	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr9:134349974A>G	ENST00000357304.4	+	15	2513	c.2458A>G	c.(2458-2460)Atc>Gtc	p.I820V	PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron|PRRC2B_ENST00000372249.1_5'UTR	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	820							protein binding			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						TGACAGCTGTATCTCTTCTCA	0.522000													5	25					0	0	1	0	0
PCSK2	5126	broad.mit.edu	37	20	17240949	17240949	+	Missense_Mutation	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr20:17240949G>A	ENST00000262545.2	+	2	557	c.242G>A	c.(241-243)cGc>cAc	p.R81H	PCSK2_ENST00000377899.1_Missense_Mutation_p.R62H|PCSK2_ENST00000536609.1_Intron	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	81					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)	AAGAGAAGACGCAGCCTACAC	0.532000													43	48					0	0	1	0	0
EPPK1	83481	broad.mit.edu	37	8	144945118	144945118	+	Missense_Mutation	SNP	G	G	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr8:144945118G>T	ENST00000525985.1	-	2	2375	c.2304C>A	c.(2302-2304)ttC>ttA	p.F768L				P58107	EPIPL_HUMAN	epiplakin 1	768						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.F768F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTGGGGTCGAAGAAGCCCT	0.632000													5	102					1.23904e-05	1.26287e-05	1	1	0
HK3	3101	broad.mit.edu	37	5	176310845	176310845	+	Missense_Mutation	SNP	A	A	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr5:176310845A>G	ENST00000292432.5	-	15	2070	c.1979T>C	c.(1978-1980)aTt>aCt	p.I660T		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	660	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCATTGACAATGGCAACCAC	0.582000													11	86					0	0	1	0	0
ZNRD1-AS1	0	broad.mit.edu	37	6	29977145	29977145	+	RNA	SNP	G	G	C	rs115037049	byFrequency	TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr6:29977145G>C	ENST00000376797.3	-	0	731				ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|HLA-J_ENST00000462773.1_RNA																							GCTTGTAAAGGTGAGACCCTG	0.512000													4	43					0	0	1	0	0
DPY19L2	283417	broad.mit.edu	37	12	63994085	63994085	+	Splice_Site	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr12:63994085C>T	ENST00000324472.4	-	13	1543		c.e13+1			NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)						multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAAGTACTTACGTGGTCTGAA	0.308000													25	39					0	0	1	0	0
ZNF883	169834	broad.mit.edu	37	9	115760587	115760587	+	RNA	SNP	G	G	A	rs7036363	by1000genomes	TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr9:115760587G>A	ENST00000427548.1	-	0	1226							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CATTTTTGTCGGTATGTAATA	0.289000													3	24					0	0	1	0	0
ATXN1	6310	broad.mit.edu	37	6	16327718	16327718	+	Missense_Mutation	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr6:16327718G>A	ENST00000244769.4	-	8	1760	c.824C>T	c.(823-825)aCg>aTg	p.T275M	ATXN1_ENST00000436367.1_Missense_Mutation_p.T275M	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	275					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TGGGATCATCGTCTGGTGGGG	0.652000													9	17					0	0	1	0	0
ACRC	93953	broad.mit.edu	37	X	70824013	70824013	+	Missense_Mutation	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:70824013G>A	ENST00000373695.1	+	7	1423	c.886G>A	c.(886-888)Gac>Aac	p.D296N	ACRC_ENST00000373696.3_Missense_Mutation_p.D296N			Q96QF7	ACRC_HUMAN	acidic repeat containing	296	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGAAGCTTCCGACGACAGCAG	0.527000													111	136					0	0	1	0	0
PRMT5	10419	broad.mit.edu	37	14	23390166	23390166	+	Missense_Mutation	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr14:23390166C>T	ENST00000324366.8	-	17	2084	c.1861G>A	c.(1861-1863)Gtc>Atc	p.V621I	PRMT5_ENST00000538452.1_Missense_Mutation_p.V515I|PRMT5_ENST00000216350.8_Missense_Mutation_p.V560I|PRMT5_ENST00000397440.4_Missense_Mutation_p.V450I|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000397441.2_Missense_Mutation_p.V604I|PRMT5_ENST00000553897.1_Missense_Mutation_p.V577I	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	621					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GCAGAACAGACTGGTGCTGTC	0.542000													15	31					0	0	1	0	0
ARHGEF4	50649	broad.mit.edu	37	2	131802995	131802995	+	Missense_Mutation	SNP	C	C	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:131802995C>A	ENST00000392953.3	+	13	2416	c.1897C>A	c.(1897-1899)Cag>Aag	p.Q633K	ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.Q573K|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.Q562K|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.Q633K|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.Q633K	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	633					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TGCCAGCAAGCAGCAGGTCAC	0.617000													19	39					1.01871e-10	1.07984e-10	1	1	0
YIPF1	54432	broad.mit.edu	37	1	54354658	54354658	+	Splice_Site	SNP	T	T	G	rs2294508	by1000genomes	TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr1:54354658T>G	ENST00000539954.1	-	2	185	c.26_splice	c.e2-1	p.T10_splice	YIPF1_ENST00000371399.1_Intron|YIPF1_ENST00000072644.1_5'UTR|YIPF1_ENST00000469457.1_5'UTR			Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	0						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						ATTTGCAGGGTTCTAAAAGAA	0.398000													3	30					0	0	1	0	0
SLC35B2	347734	broad.mit.edu	37	6	44224548	44224548	+	Missense_Mutation	SNP	G	G	C			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr6:44224548G>C	ENST00000393812.3	-	2	222	c.79C>G	c.(79-81)Cct>Gct	p.P27A	SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000538577.1_5'UTR|SLC35B2_ENST00000393810.1_Missense_Mutation_p.P27A	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	27					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GACTCCGGAGGGGCTTCGGGA	0.582000													6	72					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42798878	42798878	+	Missense_Mutation	SNP	T	T	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:42798878T>G	ENST00000572681.2	+	20	7236	c.7168T>G	c.(7168-7170)Ttc>Gtc	p.F2390V	CIC_ENST00000160740.3_Missense_Mutation_p.F1482V|CIC_ENST00000575354.2_Missense_Mutation_p.F1484V			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCATGGCTTCTTCCCGTCAGG	0.597000			"""Mis, F, S"""		oligodendroglioma								34	12					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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								27	42					0	0	1	0	0
ADAMTS9	56999	broad.mit.edu	37	3	64607885	64607885	+	Missense_Mutation	SNP	T	T	C			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr3:64607885T>C	ENST00000498707.1	-	18	3017	c.2675A>G	c.(2674-2676)aAa>aGa	p.K892R	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.K864R	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	892	TSP type-1 2.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTGGCAGGGTTTACTGCATGC	0.363000													28	21					0	0	1	0	0
LAMA1	284217	broad.mit.edu	37	18	6999522	6999522	+	Missense_Mutation	SNP	C	C	T	rs146559010		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr18:6999522C>T	ENST00000389658.3	-	32	4678	c.4585G>A	c.(4585-4587)Gtt>Att	p.V1529I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1529	Laminin EGF-like 17.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCTGCAAACGCACTGCCCA	0.557000													3	30					0	0	1	0	0
APOB	338	broad.mit.edu	37	2	21234703	21234703	+	Silent	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:21234703C>T	ENST00000233242.1	-	26	5164	c.5037G>A	c.(5035-5037)ggG>ggA	p.G1679G		NM_000384.2	NP_000375.2	P04114	APOB_HUMAN	apolipoprotein B	1679					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCATAGATGCCCCAGAGAGGC	0.493000													30	64					0	0	1	0	0
FUBP1	8880	broad.mit.edu	37	1	78425869	78425869	+	Splice_Site	SNP	C	C	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr1:78425869C>G	ENST00000370767.1	-	16	1663	c.1576_splice	c.e16+1	p.A526_splice	FUBP1_ENST00000436586.2_Splice_Site_p.A547_splice|FUBP1_ENST00000370768.2_Splice_Site_p.A526_splice			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	526	Pro-rich.				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						CATCTTCTACCTGGATCAGGA	0.413000			"""F, N"""		oligodendroglioma								14	14					0	0	1	0	0
KLHL26	55295	broad.mit.edu	37	19	18779269	18779269	+	Silent	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:18779269G>A	ENST00000300976.4	+	3	1152	c.1062G>A	c.(1060-1062)acG>acA	p.T354T	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	354										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCAGCCACACGTGCGTGGCCG	0.677000													9	18					0	0	1	0	0
CCDC108	255101	broad.mit.edu	37	2	219900291	219900291	+	Silent	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:219900291C>T	ENST00000341552.5	-	5	536	c.453G>A	c.(451-453)ctG>ctA	p.L151L	CCDC108_ENST00000410037.1_Silent_p.L86L|CCDC108_ENST00000409865.3_Silent_p.L140L|CCDC108_ENST00000324264.6_Silent_p.L86L|CCDC108_ENST00000295729.2_Silent_p.L86L|CCDC108_ENST00000441968.1_Silent_p.L151L|CCDC108_ENST00000453220.1_Silent_p.L151L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	151						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTTCCAATGCAGCTCCTCAG	0.502000													55	71					0	0	1	0	0
AMOT	154796	broad.mit.edu	37	X	112058788	112058788	+	Missense_Mutation	SNP	T	T	C			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:112058788T>C	ENST00000371959.3	-	2	1189	c.1190A>G	c.(1189-1191)cAg>cGg	p.Q397R	AMOT_ENST00000524145.1_Missense_Mutation_p.Q397R|AMOT_ENST00000371958.1_Missense_Mutation_p.Q165R|AMOT_ENST00000371962.1_Missense_Mutation_p.Q165R|AMOT_ENST00000304758.1_5'UTR	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	397					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						ctgtggctgctgctgctgctg	0.572000													4	48					0	0	1	0	0
ANKRD27	84079	broad.mit.edu	37	19	33096834	33096834	+	Silent	SNP	A	A	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:33096834A>G	ENST00000306065.4	-	24	2558	c.2400T>C	c.(2398-2400)aaT>aaC	p.N800N		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	800					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TGGGTTTTGCATTCGAATCTA	0.473000													15	13					0	0	1	0	0
ZNF347	84671	broad.mit.edu	37	19	53643617	53643617	+	Missense_Mutation	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:53643617C>T	ENST00000452676.2	-	5	2893	c.2467G>A	c.(2467-2469)Gtg>Atg	p.V823M	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.V823M|ZNF347_ENST00000334197.7_Missense_Mutation_p.V822M	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ACTTTCCACACGTTACATTTG	0.413000													54	29					0	0	1	0	0
OR8K3	219473	broad.mit.edu	37	11	56086683	56086683	+	Nonsense_Mutation	SNP	C	C	T	rs141093095		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr11:56086683C>T	ENST00000312711.1	+	1	901	c.901C>T	c.(901-903)Cga>Tga	p.R301*		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R301*(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATATGCCCTACGAAGGACATG	0.323000													3	33					0	0	1	0	0
UPRT	139596	broad.mit.edu	37	X	74519578	74519578	+	Missense_Mutation	SNP	A	A	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:74519578A>G	ENST00000373379.1	+	5	736	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	UPRT_ENST00000373383.4_Missense_Mutation_p.M191V|UPRT_ENST00000530743.1_Missense_Mutation_p.M55V			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	191					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						AGGTGAGGCAATGGAACAAGG	0.383000													6	74					0	0	1	0	0
CPS1	1373	broad.mit.edu	37	2	211471549	211471549	+	Silent	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:211471549C>T	ENST00000233072.5	+	18	2272	c.2076C>T	c.(2074-2076)ggC>ggT	p.G692G	CPS1_ENST00000451903.2_Silent_p.G241G|CPS1_ENST00000430249.2_Silent_p.G698G	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	692	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCCACTTGGGCATTGTGGGTG	0.478000													37	33					0	0	1	0	0
OTOF	9381	broad.mit.edu	37	2	26696893	26696893	+	Missense_Mutation	SNP	C	C	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:26696893C>G	ENST00000272371.2	-	27	3500	c.3374G>C	c.(3373-3375)gGc>gCc	p.G1125A	OTOF_ENST00000403946.3_Missense_Mutation_p.G1125A|OTOF_ENST00000402415.3_Missense_Mutation_p.G435A|OTOF_ENST00000339598.3_Missense_Mutation_p.G378A|OTOF_ENST00000338581.6_Missense_Mutation_p.G378A	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1125					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCCGGATGCCCATGGGCAC	0.647000													20	38					0	0	1	0	0
RP11-115K3.2	0	broad.mit.edu	37	17	36214092	36214092	+	RNA	SNP	G	G	A			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:36214092G>A	ENST00000590732.1	-	0	360					NR_024178.1																						ATTTCCTGTGGCAAATTCTGC	0.388000													3	26					0	0	1	0	0
HUWE1	10075	broad.mit.edu	37	X	53618082	53618082	+	Splice_Site	SNP	G	G	C			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:53618082G>C	ENST00000342160.3	-	33	4430	c.3972_splice	c.e33-1	p.L1325_splice	HUWE1_ENST00000218328.8_Splice_Site_p.L1325_splice|HUWE1_ENST00000262854.6_Splice_Site_p.L1325_splice			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1325	UBA.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATGTCCATGAGCTACATAAAG	0.433000													14	18					0	0	1	0	0
SLFN12	55106	broad.mit.edu	37	17	33738552	33738552	+	Silent	SNP	C	C	T	rs150878441		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:33738552C>T	ENST00000394562.1	-	6	2065	c.1542G>A	c.(1540-1542)tcG>tcA	p.S514S	SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000304905.5_Silent_p.S514S|SLFN12_ENST00000452764.3_Silent_p.S514S			Q8IYM2	SLN12_HUMAN	schlafen family member 12	514							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAATTACTTGCGACCTTAAAT	0.393000													23	44					0	0	1	0	0
QTRT1	81890	broad.mit.edu	37	19	10812925	10812925	+	Missense_Mutation	SNP	C	C	T			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:10812925C>T	ENST00000250237.5	+	3	456	c.446C>T	c.(445-447)gCg>gTg	p.A149V	QTRT1_ENST00000585885.1_3'UTR	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	149					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			ATCCAGAATGCGCTGGGTGAG	0.607000													3	38					0	0	1	0	0
MYO15A	51168	broad.mit.edu	37	17	18052562	18052562	+	Missense_Mutation	SNP	A	A	G			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:18052562A>G	ENST00000205890.5	+	34	7327	c.6989A>G	c.(6988-6990)gAc>gGc	p.D2330G		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2330	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCGGATGAGGACATGTCCACT	0.527000													10	14					0	0	1	0	0
PDZD3	79849	broad.mit.edu	37	11	119058335	119058335	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr11:119058335delC	ENST00000531114.1	+	4	1330	c.781delC	c.(781-783)ccfs	p.P262fs	PDZD3_ENST00000392817.2_Frame_Shift_Del_p.P262fs|PDZD3_ENST00000355547.5_Frame_Shift_Del_p.P196fs|PDZD3_ENST00000322712.4_Frame_Shift_Del_p.P196fs|PDZD3_ENST00000525131.1_Frame_Shift_Del_p.P183fs			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	262	PDZ 2.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GGCAGGGGTGCCCCCCGGGGC	0.552													3	5	---	---	---	---					
FUS	2521	broad.mit.edu	37	16	31200459	31200461	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr16:31200459_31200461delACA	ENST00000254108.7	+	9	953_955	c.848_850delACA	c.(847-852)gac>g	p.DN283del	FUS_ENST00000568685.1_In_Frame_Del_p.DN284del|FUS_ENST00000380244.3_In_Frame_Del_p.DN282del|FUS_ENST00000474990.1_3'UTR	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	283					cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GATAATTCAGACAACAACACCAT	0.374			T	"""DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"""	"""liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"""								46	185	---	---	---	---