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
IDH1	3417	broad.mit.edu	37	2	209113113	209113113	+	Missense_Mutation	SNP	G	A	A	rs121913499		TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:209113113G>A	uc002vcs.3	-	3	640	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_uc002vct.3_Missense_Mutation_p.R132C|IDH1_uc002vcu.3_Missense_Mutation_p.R132C	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(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|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)		TAAGCATGACGACCTATGATG	0.398000			Mis		gliobastoma									54			20		0	0	0.008871	0	0
FAM47A	158724	broad.mit.edu	37	X	34149060	34149060	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chrX:34149060C>G	uc004ddg.3	-	0	1388	c.1336G>C	c.(1336-1338)Gag>Cag	p.E446Q		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	446										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACCCGGGCCTCACAACGATCC	0.557000														19			17		0	0	0.004007	0	0
ASPHD2	57168	broad.mit.edu	37	22	26829961	26829961	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr22:26829961A>G	uc003acg.2	+	1	777	c.380A>G	c.(379-381)tAc>tGc	p.Y127C		NM_020437	NP_065170	Q6ICH7	ASPH2_HUMAN	Homo sapiens aspartate beta-hydroxylase domain containing 2 (ASPHD2), mRNA.	127					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CAGAAGCTGTACCACAACCTG	0.652000														39			12		0	0	0.010729	0	0
OR6K2	81448	broad.mit.edu	37	1	158670418	158670418	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr1:158670418T>C	uc001fsu.1	-	0	25	c.25A>G	c.(25-27)Att>Gtt	p.I9V		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AACTCCTGAATGGTGGTTCGA	0.433000														64			15		0	0	0.003163	0	0
OTOP2	92736	broad.mit.edu	37	17	72923807	72923807	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:72923807C>A	uc010wrp.2	+	4	649	c.557C>A	c.(556-558)gCg>gAg	p.A186E	OTOP2_uc002jmf.1_3'UTR	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	186						integral to membrane		p.A186V(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					ATCTGGATGGCGGCCGTGGTG	0.577000														43			4		0.00909568	0.00952881	0.009096	1	0
STRN4	29888	broad.mit.edu	37	19	47236439	47236439	+	Silent	SNP	G	A	A	rs141865144		TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr19:47236439G>A	uc002pfm.3	-	4	627	c.594C>T	c.(592-594)cgC>cgT	p.R198R	STRN4_uc002pfl.3_Silent_p.R198R|STRN4_uc010xyf.2_Non-coding_Transcript|STRN4_uc010xyg.1_Non-coding_Transcript	NM_001039877	NP_001034966	Q9NRL3	STRN4_HUMAN	Homo sapiens striatin, calmodulin binding protein 4 (STRN4), transcript variant 2, mRNA.	198						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		GGGAACGGACGCGCTTGGACC	0.672000														35			3		0	0	0.004672	0	0
ZNF300	91975	broad.mit.edu	37	5	150275093	150275093	+	Missense_Mutation	SNP	T	A	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr5:150275093T>A	uc021yfx.1	-	6	2184	c.1756A>T	c.(1756-1758)Att>Ttt	p.I586F	ZNF300_uc021yfy.1_Missense_Mutation_p.I570F|ZNF300_uc021yfz.1_Missense_Mutation_p.I534F	NM_001172831	NP_001166303	Q96RE9	ZN300_HUMAN	Homo sapiens zinc finger protein 300 (ZNF300), transcript variant 1, mRNA.	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGTATGAATCCTCTGATGT	0.438000														60			20		0	0	0.012319	0	0
CBWD5	220869	broad.mit.edu	37	9	70182125	70182125	+	RNA	SNP	A	G	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr9:70182125A>G	uc004afw.3	-	2		c.1987T>C						Q5RIA9	CBWD5_HUMAN	Homo sapiens COBW domain containing 5, mRNA (cDNA clone IMAGE:5287337), complete cds.								ATP binding								all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		TTTGTCTTTGATTGACACCAA	0.408000														69			7		0	0	0.006214	0	0
abParts	0	broad.mit.edu	37	14	106385430	106385430	+	Splice_Site	SNP	C	T	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr14:106385430C>T	uc021ser.1	-	3259		c.52457_splice	c.e3259+1		KIAA0125_uc001ysq.3_Intron|KIAA0125_uc001ysr.3_Intron|KIAA0125_uc001yss.3_Intron|KIAA0125_uc001yst.3_Intron					Parts of antibodies, mostly variable regions.																		AGCTCTGGGGCCTCCTGGATG	0.627000														28			9		0	0	0.008291	0	0
KRTAP10-8	386681	broad.mit.edu	37	21	46032549	46032549	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr21:46032549C>T	uc002zfo.1	+	0	554	c.532C>T	c.(532-534)Cct>Tct	p.P178S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	178	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTGCTGTGTGCCTGTCTGCTC	0.622000														246			10		0	0	0.006214	0	0
PCDHGC5	56097	broad.mit.edu	37	5	140750527	140750527	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr5:140750527G>T	uc003ljw.2	+	0	566	c.566G>T	c.(565-567)aGt>aTt	p.S189I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc011dat.2_Missense_Mutation_p.S189I	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	189	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGATGGCAGTAGGTACCCA	0.557000														127			34		1.74807e-11	1.99779e-11	0.010818	1	0
FAM86EP	348926	broad.mit.edu	37	4	3948415	3948415	+	RNA	SNP	G	A	A	rs73076893	by1000genomes	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr4:3948415G>A	uc011bvu.2	-	4		c.1920C>T			FAM86EP_uc003ghn.3_Intron					Homo sapiens family with sequence similarity 86, member E, pseudogene (FAM86EP), non-coding RNA.																		TTACGCCGGCGCCCAGTTCTT	0.652000														32			3		0	0	0.004672	0	0
ZNF642	339559	broad.mit.edu	37	1	40961691	40961691	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr1:40961691A>G	uc010ojk.2	+	5	1838	c.1544A>G	c.(1543-1545)cAt>cGt	p.H515R	ZNF642_uc001cfo.3_Missense_Mutation_p.H514R|ZNF642_uc009vwb.3_Missense_Mutation_p.H514R	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	Homo sapiens zinc finger protein 642 (ZNF642), mRNA.	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			AGTCGACATCATGAAATACAC	0.368000														78			24		0	0	0.014323	0	0
CRSP8P	441089	broad.mit.edu	37	5	79647385	79647385	+	RNA	SNP	A	G	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr5:79647385A>G	uc010jaj.1	-	0		c.401T>C								Homo sapiens mediator complex subunit 27 pseudogene (CRSP8P), non-coding RNA.																		TTCAACGACTACTGATTTAAA	0.448000														68			29		0	0	0.008361	0	0
PLCH2	9651	broad.mit.edu	37	1	2415924	2415924	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr1:2415924T>G	uc001aji.1	+	4	954	c.680T>G	c.(679-681)tTt>tGt	p.F227C	PLCH2_uc010nyz.2_Missense_Mutation_p.F16C|PLCH2_uc009vle.1_Missense_Mutation_p.F16C|PLCH2_uc001ajj.1_Missense_Mutation_p.F16C|PLCH2_uc001ajk.1_Missense_Mutation_p.F16C	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	228	EF-hand 2.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACGCTGGGTTTTGAAGAGTTC	0.602000														26			8		0	0	0.003080	0	0
LOC441666	441666	broad.mit.edu	37	10	42832104	42832104	+	RNA	SNP	G	T	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr10:42832104G>T	uc010qey.2	-	2		c.1871C>A								Homo sapiens zinc finger protein 91 pseudogene (LOC441666), non-coding RNA.																		TGAATAAGGTGTGAGGAACAG	0.338000														11			3		0.004672	0.00507575	0.004672	1	0
CASR	846	broad.mit.edu	37	3	122003874	122003874	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr3:122003874C>A	uc003eew.4	+	6	3541	c.3103C>A	c.(3103-3105)Ctg>Atg	p.L1035M	CASR_uc003eev.4_Missense_Mutation_p.L1025M	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	1025					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGACTTAGATCTGACCGTCCA	0.592000														57			22		1.2644e-06	1.42651e-06	0.010504	1	0
ZNF638	27332	broad.mit.edu	37	2	71576853	71576853	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:71576853G>A	uc002shx.3	+	1	1092	c.769G>A	c.(769-771)Gtg>Atg	p.V257M	ZNF638_uc010fec.2_Missense_Mutation_p.V363M|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Missense_Mutation_p.V257M|ZNF638_uc002shz.3_Missense_Mutation_p.V257M|ZNF638_uc002shy.3_Missense_Mutation_p.V257M|ZNF638_uc002sia.3_Missense_Mutation_p.V257M|ZNF638_uc002sib.1_Missense_Mutation_p.V257M	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	257					RNA splicing	cytoplasm|nuclear speck	RNA binding|double-stranded DNA binding|nucleotide binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CAATCCAAATGTGATATGTAA	0.408000														149			8		0	0	0.003080	0	0
FAM75E1	286234	broad.mit.edu	37	9	90501078	90501078	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr9:90501078T>C	uc004app.4	+	3	1711	c.1676T>C	c.(1675-1677)gTc>gCc	p.V559A	FAM75E1_uc004apo.1_Missense_Mutation_p.V371A	NM_178828	NP_849150	Q6ZUB1	CI079_HUMAN	Homo sapiens chromosome 9 open reading frame 79 (C9orf79), mRNA.	559						integral to membrane											ACACAGTCTGTCATCCCCACT	0.552000														162			10		0	0	0.010729	0	0
KRTAP4-11	653240	broad.mit.edu	37	17	39274491	39274491	+	Missense_Mutation	SNP	C	T	T	rs113376601	by1000genomes	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:39274491C>T	uc002hvz.3	-	0	116	c.77G>A	c.(76-78)cGc>cAc	p.R26H		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	26	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGCTGGGGCGGCAGCAGGT	0.627000														47			4		0	0	0.009096	0	0
DDX12P	440081	broad.mit.edu	37	12	9573224	9573224	+	RNA	SNP	C	T	T	rs7358609	by1000genomes	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr12:9573224C>T	uc021qut.1	-	10		c.2174G>A			DDX12P_uc001qvx.4_Non-coding_Transcript|DDX12P_uc001qvy.1_5'Flank					Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 12, pseudogene (DDX12P), non-coding RNA.																		GAAACCACACCGCACAGGTTA	0.617000														45			4		0	0	0.003080	0	0
KRT38	8687	broad.mit.edu	37	17	39596991	39596991	+	Silent	SNP	G	A	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:39596991G>A	uc002hwq.1	-	0	606	c.183C>T	c.(181-183)ccC>ccT	p.P61P		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	61	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GGCGGCCCAGGGGAGTGGACC	0.637000														78			6		0	0	0.001168	0	0
abParts	0	broad.mit.edu	37	14	106993798	106993798	+	Splice_Site	SNP	C	T	T	rs7146961	by1000genomes	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr14:106993798C>T	uc021ser.1	-	234		c.9455_splice	c.e234+1							Parts of antibodies, mostly variable regions.																		TCACACTGACCTCCCCTCACT	0.587000														257			10		0	0	0.004007	0	0
ZNF66	0	broad.mit.edu	37	19	20959119	20959119	+	RNA	SNP	T	G	G	rs8106412	by1000genomes	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr19:20959119T>G	uc002npe.3	+	0		c.10T>G								Homo sapiens zinc finger protein 66, mRNA (cDNA clone MGC:87430 IMAGE:5270688), complete cds.																		TGTCTCTCCCTGCAGCTGGAG	0.582000														34			4		0	0	0.009096	0	0
TUBB8	347688	broad.mit.edu	37	10	93136	93136	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr10:93136G>A	uc001ifi.2	-	3	1196	c.1196C>T	c.(1195-1197)aCg>aTg	p.T399M		NM_177987	NP_817124	Q3ZCM7	TBB8_HUMAN	Homo sapiens tubulin, beta 8 class VIII (TUBB8), transcript variant 1, mRNA.	399					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GCCCTCGCCCGTGTACCAGTG	0.532000														94			13		0	0	0.006122	0	0
PLVAP	83483	broad.mit.edu	37	19	17487967	17487967	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr19:17487967A>G	uc002ngk.1	-	0	171	c.131T>C	c.(130-132)gTg>gCg	p.V44A		NM_031310	NP_112600	Q9BX97	PLVAP_HUMAN	Homo sapiens plasmalemma vesicle associated protein (PLVAP), mRNA.	44						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CATGAAGAGCACGAGCCCCAG	0.612000														53			19		0	0	0.007413	0	0
FNDC3B	64778	broad.mit.edu	37	3	172048389	172048389	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr3:172048389G>A	uc003fhy.3	+	12	1610	c.1438G>A	c.(1438-1440)Gca>Aca	p.A480T	FNDC3B_uc003fhz.4_Missense_Mutation_p.A480T|FNDC3B_uc003fia.3_Missense_Mutation_p.A411T	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	480	Fibronectin type-III 3.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		GATGCCTTCTGCACCAAGGCT	0.493000														63			5		0	0	0.000602	0	0
abParts	0	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	A	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr22:22664141G>A	uc021wml.1	+	31		c.2583G>A			abParts_uc011aiq.1_Non-coding_Transcript					Parts of antibodies, mostly variable regions.																		AAATTTGAAGGTGCTGTGATT	0.448000														98			5		0	0	0.000602	0	0
RREB1	6239	broad.mit.edu	37	6	7229937	7229937	+	Silent	SNP	G	T	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr6:7229937G>T	uc003mxb.3	+	9	2097	c.1605G>T	c.(1603-1605)ccG>ccT	p.P535P	RREB1_uc021yky.1_Silent_p.P535P|RREB1_uc003mxc.3_Silent_p.P535P|RREB1_uc010jnx.3_Silent_p.P535P|RREB1_uc021ykz.1_Silent_p.P535P|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	535	Pro-rich.				Ras protein signal transduction|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			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)				AGGCTTCCCCGGGCTGTATCA	0.682000														103			31		5.60225e-13	6.48681e-13	0.009535	1	0
SYNE2	23224	broad.mit.edu	37	14	64375888	64375888	+	Missense_Mutation	SNP	C	T	T	rs2275017	by1000genomes	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr14:64375888C>T	uc001xgl.3	+	1	252	c.22C>T	c.(22-24)Ccc>Tcc	p.P8S	SYNE2_uc001xgk.3_Missense_Mutation_p.P8S|SYNE2_uc001xgm.3_Missense_Mutation_p.P8S|SYNE2_uc021ruh.1_Missense_Mutation_p.P8S	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	8	Actin-binding.		P -> S (in dbSNP:rs2275017).		centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	SUN-KASH complex|Z disc|cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCTGAGCTTCCCACCGAAGA	0.433000														100			5		0	0	0.001168	0	0
MOGS	7841	broad.mit.edu	37	2	74688527	74688527	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:74688527G>A	uc010ffj.3	-	3	2552	c.2389C>T	c.(2389-2391)Cgc>Tgc	p.R797C	MOGS_uc010ffh.3_Missense_Mutation_p.R522C|MOGS_uc010yrt.2_Missense_Mutation_p.R678C|MOGS_uc010ffi.3_Missense_Mutation_p.R691C	NM_006302	NP_001139630	Q13724	MOGS_HUMAN	Homo sapiens mannosyl-oligosaccharide glucosidase (MOGS), transcript variant 1, mRNA.	797					oligosaccharide metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein folding	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TGGTACTGGCGCCATACATTG	0.622000														75			26		0	0	0.004656	0	0
TP53	7157	broad.mit.edu	37	17	7578413	7578413	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:7578413C>T	uc002gim.2	-	4	711	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_uc002gig.1_Missense_Mutation_p.V173M|TP53_uc002gih.3_Missense_Mutation_p.V173M|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V41M|TP53_uc010cnf.1_Missense_Mutation_p.V41M|TP53_uc002gii.1_Missense_Mutation_p.V41M|TP53_uc010cni.1_Missense_Mutation_p.V173M|TP53_uc010cnh.1_Missense_Mutation_p.V173M|TP53_uc002gij.2_Missense_Mutation_p.V173M|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.V80M|TP53_uc002gio.2_Missense_Mutation_p.V41M|TP53_uc010vug.2_Missense_Mutation_p.V134M	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173L(125)|p.V173M(88)|p.V172F(13)|p.V173A(12)|p.V173V(8)|p.V173fs*1(8)|p.V172D(8)|p.0?(8)|p.V172I(7)|p.V173G(6)|p.V80L(6)|p.V41L(6)|p.V172A(4)|p.V173fs*59(4)|p.V172fs*2(4)|p.V172V(4)|p.V172G(4)|p.V80M(3)|p.V41M(3)|p.V157_C176del20(2)|p.V172_R174delVVR(2)|p.V173fs*69(2)|p.P151_V173del23(2)|p.V173fs*23(2)|p.V172_E180delVVRRCPHHE(2)|p.V173W(2)|p.V173fs*8(2)|p.E171_H179delEVVRRCPHH(2)|p.K164_P219del(1)|p.E171fs*61(1)|p.V173E(1)|p.E171fs*1(1)|p.V173fs*7(1)|p.V172fs*9(1)|p.H168fs*69(1)|p.S149fs*72(1)|p.E171_V172delEV(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGCGCCTCACAACCTCCGTC	0.662000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				27			31		0	0	0.009535	0	0
MLL	4297	broad.mit.edu	37	11	118367049	118367049	+	Silent	SNP	G	A	A	rs147764171	byFrequency	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr11:118367049G>A	uc001pta.3	+	19	5645	c.5622G>A	c.(5620-5622)gcG>gcA	p.A1874A	MLL_uc001ptb.3_Silent_p.A1877A	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1874					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GACAGTGTGCGTTATGTTTGA	0.438000			"""T, O"""	"""MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"""	"""AML, ALL"""									92			5		0	0	0.000602	0	0
SNRPN	6638	broad.mit.edu	37	15	25438440	25438440	+	RNA	SNP	A	G	G			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr15:25438440A>G	uc001yzf.1	+	2		c.318A>G			SNRPN_uc001yzh.2_5'Flank|SNORD115-14_uc001yzj.1_5'Flank			P63162	RSMN_HUMAN	Homo sapiens clone Rt-11 SNURF-SNRPN mRNA, downstream untranslated exons, alternatively spliced.						RNA splicing	small nuclear ribonucleoprotein complex|spliceosomal complex	RNA binding|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(2)	24		all_cancers(20;9.33e-22)|Breast(32;0.000625)		all cancers(64;3.38e-08)|Epithelial(43;3.45e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000207)|GBM - Glioblastoma multiforme(186;0.125)		TGCTGGATGCATGCGCCGGGA	0.537000									Prader-Willi syndrome					178			50		0	0	0.014410	0	0
MYT1L	23040	broad.mit.edu	37	2	1906994	1906994	+	Silent	SNP	C	T	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:1906994C>T	uc002qxe.3	-	13	2717	c.1890G>A	c.(1888-1890)ccG>ccA	p.P630P	MYT1L_uc002qxd.3_Silent_p.P628P|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	630					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGTTGGAACGCGGCGTAGTTG	0.468000														30			12		0	0	0.010729	0	0
PDGFRA	5156	broad.mit.edu	37	4	55152040	55152040	+	Silent	SNP	C	T	T	rs2228230	byFrequency	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr4:55152040C>T	uc003han.4	+	17	2803	c.2472C>T	c.(2470-2472)gtC>gtT	p.V824V	PDGFRA_uc003haa.3_Silent_p.V584V	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	824	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of DNA replication|positive regulation of cell migration|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.(814_854)?(57)|p.V824V(30)|p.V824L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTCGCAACGTCCTCCTGGCAC	0.498000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)				128			7		0	0	0.003080	0	0
AZGP1P1	646282	broad.mit.edu	37	7	99578411	99578411	+	Missense_Mutation	SNP	T	C	C	rs62484970	by1000genomes	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr7:99578411T>C	uc003usi.2	+	0	27	c.16T>C	c.(16-18)Tct>Cct	p.S6P	AZGP1P1_uc022aie.1_Missense_Mutation_p.S6P					Homo sapiens alpha-2-glycoprotein 1, zinc-binding pseudogene 1 (AZGP1P1), non-coding RNA.																		AAGAATGGTGTCTGTCCTGCT	0.582000														145			6		0	0	0.003080	0	0
FRAS1	80144	broad.mit.edu	37	4	79428637	79428637	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr4:79428637T>C	uc003hlb.2	+	61	9819	c.9379T>C	c.(9379-9381)Tct>Cct	p.S3127P	FRAS1_uc003hlc.1_Missense_Mutation_p.S129P	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3122	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGGCATGAATCTTTCTCACT	0.488000														33			4		0	0	0.000602	0	0
TTYH2	94015	broad.mit.edu	37	17	72233513	72233513	+	Silent	SNP	C	T	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:72233513C>T	uc002jkc.3	+	3	526	c.495C>T	c.(493-495)ggC>ggT	p.G165G	TTYH2_uc010wqw.2_Silent_p.G144G	NM_032646	NP_116035	Q9BSA4	TTYH2_HUMAN	Homo sapiens tweety homolog 2 (Drosophila) (TTYH2), transcript variant 1, mRNA.	165						chloride channel complex|plasma membrane	chloride channel activity|protein binding	p.R164W(1)|p.G165fs*7(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CTGCCCGGGGCGATTACCTGC	0.597000														61			19		0	0	0.006122	0	0
BTN2A3P	54718	broad.mit.edu	37	6	26423175	26423175	+	Missense_Mutation	SNP	G	A	A	rs151279164	byFrequency	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr6:26423175G>A	uc011dkl.1	+	1	124	c.94G>A	c.(94-96)Gtg>Atg	p.V32M	BTN2A3P_uc011dkm.2_Non-coding_Transcript					Homo sapiens butyrophilin, subfamily 2, member A3, pseudogene (BTN2A3P), non-coding RNA.																		GGTCACTGTCGTGGGGCCCAC	0.537000														41			17		0	0	0.004990	0	0
FAM123C	205147	broad.mit.edu	37	2	131521009	131521009	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:131521009C>T	uc021voy.1	+	0	1364	c.1364C>T	c.(1363-1365)aCg>aTg	p.T455M	FAM123C_uc002trw.2_Missense_Mutation_p.T455M|FAM123C_uc010fmv.2_Missense_Mutation_p.T455M|FAM123C_uc010fms.1_Missense_Mutation_p.T455M|FAM123C_uc010fmt.1_Missense_Mutation_p.T455M|FAM123C_uc010fmu.1_Missense_Mutation_p.T455M	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	455										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GCCCTGGGGACGCCACTGTCC	0.652000														46			21		0	0	0.010504	0	0
SACS	26278	broad.mit.edu	37	13	23914687	23914687	+	Frame_Shift_Del	DEL	T	-	-			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr13:23914687delT	uc001uon.2	-	9	3917	c.3328delA	c.(3328-3330)attfs	p.I1110fs	SACS_uc001uoo.2_Frame_Shift_Del_p.I963fs|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1110					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|Hsp70 protein binding|chaperone binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGGCTTCAATTTTTTTTGCC	0.383													---	326	---	---	7	---					
OCA2	4948	broad.mit.edu	37	15	28171297	28171297	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr15:28171297delA	uc001zbh.4	-	18	2165	c.2055delT	c.(2053-2055)tttfs	p.F685fs	OCA2_uc010ayv.3_Frame_Shift_Del_p.F661fs	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	685					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	L-tyrosine transmembrane transporter activity|arsenite transmembrane transporter activity|citrate transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGAGCGCTGCAAAAAACAGAA	0.363									Oculocutaneous Albinism				---	64	---	---	19	---					
AX748287	0	broad.mit.edu	37	19	44634853	44634854	+	Splice_Site	INS	-	A	A	rs72195812		TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr19:44634853_44634854insA	uc002oyk.1	+	1		c.2247_splice	c.e1+1		ZNF225_uc002oyj.1_Intron|ZNF225_uc010ejf.1_Intron					Homo sapiens cDNA FLJ36431 fis, clone THYMU2011785.																		gactccatctcaaaaaaaaaaa	0.416													---	4	---	---	3	---					
SLC8A2	6543	broad.mit.edu	37	19	47935681	47935683	+	In_Frame_Del	DEL	TCC	-	-			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr19:47935681_47935683delTCC	uc010ele.3	-	7	2146_2148	c.2130_2132delGGA	c.(2128-2133)gaggac>gac	p.E710del	SLC8A2_uc002pgx.3_In_Frame_Del_p.E710del|SLC8A2_uc010xyq.2_In_Frame_Del_p.E466del|SLC8A2_uc010xyr.2_In_Frame_Del_p.E173del			Q9UPR5	NAC2_HUMAN	Homo sapiens solute carrier family 8 (sodium/calcium exchanger), member 2 (SLC8A2), mRNA.	710					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CCGGGACCCGTCCTCCTCCTCCT	0.616													---	141	---	---	7	---					
ZNF320	162967	broad.mit.edu	37	19	53384195	53384195	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr19:53384195delC	uc002qag.3	-	3	1375	c.1184delG	c.(1183-1185)agtfs	p.S395fs	ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.3_Frame_Shift_Del_p.S341fs|ZNF320_uc002qai.3_Frame_Shift_Del_p.S395fs	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	Homo sapiens zinc finger protein 320 (ZNF320), mRNA.	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		CGCTTTTGTACTAAAAACCTT	0.403													---	104	---	---	38	---					
