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
ZNF791	163049	broad.mit.edu	37	19	12739849	12739849	+	Silent	SNP	G	G	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr19:12739849G>T	uc002mua.2	+	3	1668	c.1506G>T	c.(1504-1506)ggG>ggT	p.G502G	ZNF791_uc010xml.1_Silent_p.G470G|ZNF791_uc010dyu.1_Silent_p.G393G|ZNF791_uc010xmm.1_Silent_p.G393G	NM_153358	NP_699189	Q3KP31	ZN791_HUMAN	Homo sapiens zinc finger protein 791 (ZNF791), mRNA.	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AGGAATGCGGGAAGGCCTTTA	0.388000													41	58					1.49673e-21	1.75866e-21	0.086207	1	0
FAT2	2196	broad.mit.edu	37	5	150925553	150925553	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr5:150925553A>G	uc003lue.4	-	8	5148	c.5135T>C	c.(5134-5136)aTt>aCt	p.I1712T		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1712	Cadherin 15.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGGTGGAAATAAGGCCAGA	0.443000													68	64					0	0	0.139131	0	0
TP53	7157	broad.mit.edu	37	17	7577129	7577129	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr17:7577129A>G	uc002gim.2	-	7	1003	c.809T>C	c.(808-810)tTt>tCt	p.F270S	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.F270S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.F138S|TP53_uc010cnf.1_Missense_Mutation_p.F138S|TP53_uc002gii.1_Missense_Mutation_p.F138S|TP53_uc010cni.1_Missense_Mutation_p.F270S|TP53_uc010cnh.1_Missense_Mutation_p.F270S|TP53_uc002gij.2_Missense_Mutation_p.F270S|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	270	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (in sporadic cancers; somatic mutation).		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.F270C(31)|p.F270L(23)|p.F270S(16)|p.F270Y(10)|p.0?(8)|p.F270V(7)|p.G262_F270delGNLLGRNSF(4)|p.F270I(4)|p.G266_E271delGRNSFE(4)|p.S269N(4)|p.S269C(4)|p.S269S(3)|p.S269G(3)|p.F270fs*72(2)|p.S269fs*21(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.G262_S269delGNLLGRNS(2)|p.S269_F270>I(2)|p.S269T(2)|p.S269fs*34(2)|p.S269fs*75(1)|p.S269fs*76(1)|p.E258fs*71(1)|p.S269>XXXXX(1)|p.S269_F270insX(1)|p.S269fs*3(1)|p.S269R(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)		ACGCACCTCAAAGCTGTTCCG	0.537000		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)			8	11					0	0	0.038147	0	0
PDZD4	57595	broad.mit.edu	37	X	153069774	153069774	+	Silent	SNP	G	G	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:153069774G>T	uc004fja.1	-	7	1612	c.1362C>A	c.(1360-1362)ccC>ccA	p.P454P	PDZD4_uc004fiy.1_Silent_p.P373P|PDZD4_uc004fiz.1_Silent_p.P448P|PDZD4_uc004fix.2_Silent_p.P352P|PDZD4_uc011mze.1_Silent_p.P339P|PDZD4_uc022chy.1_5'Flank	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	448						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGCTTCTTGGGCTCGCTGG	0.652000													8	41					9.16793e-09	1.02593e-08	0.033300	1	0
KLHDC3	116138	broad.mit.edu	37	6	42986679	42986679	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr6:42986679G>A	uc003otl.3	+	7	1204	c.899G>A	c.(898-900)gGt>gAt	p.G300D	RRP36_uc003otp.1_5'Flank|KLHDC3_uc003otn.3_Missense_Mutation_p.G184D|KLHDC3_uc003otm.3_Non-coding_Transcript|KLHDC3_uc021yzr.1_Missense_Mutation_p.G285D|KLHDC3_uc003oto.3_Missense_Mutation_p.G241D	NM_057161	NP_476502	Q9BQ90	KLDC3_HUMAN	Homo sapiens kelch domain containing 3 (KLHDC3), transcript variant 1, mRNA.	300					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGTATTGTTGGTGACAAGATT	0.512000													7	117					0	0	0.047766	0	0
PPHLN1	51535	broad.mit.edu	37	12	42835164	42835164	+	Silent	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr12:42835164G>A	uc001rng.1	+	9	1062	c.957G>A	c.(955-957)ctG>ctA	p.L319L	PPHLN1_uc001rnb.3_Silent_p.L326L|PPHLN1_uc001rnc.3_Silent_p.L319L|PPHLN1_uc001rnd.3_Silent_p.L271L|PPHLN1_uc001rnf.3_Silent_p.L300L|PPHLN1_uc010skq.2_Silent_p.L245L|PPHLN1_uc010skr.1_Silent_p.L264L|PPHLN1_uc010sks.1_Silent_p.L245L|PPHLN1_uc010skt.1_Silent_p.L199L|PPHLN1_uc001rni.1_Silent_p.L264L|PPHLN1_uc001rnh.1_Non-coding_Transcript|PPHLN1_uc010sku.1_Silent_p.L252L	NM_016488	NP_057572	Q8NEY8	PPHLN_HUMAN	Homo sapiens periphilin 1 (PPHLN1), transcript variant 1, mRNA.	319					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TGAAAATGCTGATTGAAAAAG	0.368000													7	107					0	0	0.047766	0	0
CDK19	23097	broad.mit.edu	37	6	110935837	110935837	+	Missense_Mutation	SNP	G	G	T	rs149781625	byFrequency	TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr6:110935837G>T	uc003puh.1	-	12	1483	c.1410C>A	c.(1408-1410)agC>agA	p.S470R	CDK19_uc003pui.1_Missense_Mutation_p.S410R|CDK19_uc011eax.1_Missense_Mutation_p.S346R	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA.	470	Ser-rich.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						ATCCCTGAACGCTGCTTTGGT	0.522000													18	47					6.49762e-13	7.44849e-13	0.038395	1	0
XKRX	402415	broad.mit.edu	37	X	100169558	100169558	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:100169558T>A	uc004egn.2	-	2	1724	c.1119A>T	c.(1117-1119)aaA>aaT	p.K373N	XKRX_uc011mre.1_Missense_Mutation_p.K169N	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related, X-linked (XKRX), mRNA.	373						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TCAGTAACACTTTCACTCCAA	0.423000													97	117					0	0	0.139131	0	0
TMEM82	388595	broad.mit.edu	37	1	16074101	16074101	+	Missense_Mutation	SNP	C	C	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr1:16074101C>A	uc001axc.3	+	5	1144	c.1006C>A	c.(1006-1008)Cag>Aag	p.Q336K		NM_001013641	NP_001013663	A0PJX8	TMM82_HUMAN	Homo sapiens transmembrane protein 82 (TMEM82), mRNA.	336						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCGGCACCCCAGTCCCAGAG	0.602000													22	59					3.08376e-08	3.37062e-08	0.083992	1	0
TIMD4	91937	broad.mit.edu	37	5	156349194	156349194	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr5:156349194T>A	uc003lwh.2	-	6	985	c.928A>T	c.(928-930)Atg>Ttg	p.M310L	TIMD4_uc010jii.2_Missense_Mutation_p.M282L|TIMD4_uc003lwg.2_Missense_Mutation_p.M12L	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	310						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGATGGGCATTTCATTCTTC	0.517000													5	64					0	0	0.029380	0	0
DLG2	1740	broad.mit.edu	37	11	83676479	83676479	+	Silent	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr11:83676479G>A	uc001paj.2	-	7	1077	c.774C>T	c.(772-774)caC>caT	p.H258H	DLG2_uc001pai.2_Silent_p.H207H|DLG2_uc010rsy.1_Silent_p.H225H|DLG2_uc021qof.1_Silent_p.H297H|DLG2_uc010rsz.1_Silent_p.H258H|DLG2_uc010rta.1_Silent_p.H258H|DLG2_uc001pak.2_Silent_p.H363H|DLG2_uc010rtb.1_Silent_p.H225H|DLG2_uc001pal.1_Silent_p.H258H|DLG2_uc001pam.2_Silent_p.H297H	NM_001364	NP_001355	Q15700	DLG2_HUMAN	Homo sapiens discs, large homolog 2 (Drosophila) (DLG2), transcript variant 2, mRNA.	258	PDZ 2.					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	p.T257T(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTGCCTCTTCGTGTGTTACTT	0.353000													20	147					0	0	0.062417	0	0
ANKRD30BP2	149992	broad.mit.edu	37	21	14439185	14439185	+	RNA	SNP	C	C	A	rs112098339		TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr21:14439185C>A	uc002yja.4	+	9		c.2703C>A								Homo sapiens ankyrin repeat domain 30B pseudogene 2 (ANKRD30BP2), non-coding RNA.																		TGACTTTAAACCAAGAAGAAG	0.269000													6	34					2.0095e-06	2.09881e-06	0.029380	1	0
GNPDA1	10007	broad.mit.edu	37	5	141381656	141381656	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr5:141381656A>G	uc003lmf.4	-	5	1567	c.808T>C	c.(808-810)Tac>Cac	p.Y270H	GNPDA1_uc003lmg.4_Missense_Mutation_p.Y270H|GNPDA1_uc010jgh.3_Missense_Mutation_p.Y270H|GNPDA1_uc003lmh.4_Missense_Mutation_p.Y236H	NM_005471	NP_005462	P46926	GNPI1_HUMAN	Homo sapiens glucosamine-6-phosphate deaminase 1 (GNPDA1), mRNA.	270					N-acetylglucosamine metabolic process|generation of precursor metabolites and energy|glucosamine catabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGATACTGTACAAGGGGTCC	0.388000													12	33					0	0	0.105934	0	0
LMF2	91289	broad.mit.edu	37	22	50944111	50944111	+	Missense_Mutation	SNP	G	G	A	rs149785243		TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr22:50944111G>A	uc003blp.2	-	5	939	c.908C>T	c.(907-909)aCg>aTg	p.T303M	LMF2_uc003blo.2_Missense_Mutation_p.T278M|NCAPH2_uc003blq.4_5'Flank|NCAPH2_uc003blv.3_5'Flank|NCAPH2_uc003blx.4_5'Flank|NCAPH2_uc003blr.4_5'Flank	NM_033200	NP_149977	Q9BU23	LMF2_HUMAN	Homo sapiens lipase maturation factor 2 (LMF2), mRNA.	303						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACAGGTGGCCGTCTTCTTGCG	0.642000													16	26					0	0	0.038395	0	0
PRAMEF11	440560	broad.mit.edu	37	1	12884887	12884887	+	Silent	SNP	G	G	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr1:12884887G>T	uc001auk.2	-	3	1420	c.1224C>A	c.(1222-1224)ccC>ccA	p.P408P		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	408								p.P408P(2)|p.P408T(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGATCCTCTTGGGGTGCCTTA	0.493000													14	296					6.31663e-08	6.74731e-08	0.132662	1	0
FAT1	2195	broad.mit.edu	37	4	187524637	187524637	+	Silent	SNP	A	A	G			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr4:187524637A>G	uc003izf.3	-	18	11231	c.11043T>C	c.(11041-11043)gtT>gtC	p.V3681V		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3681					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTGCAAACTAACAATCTGTA	0.478000										HNSCC(5;0.00058)			7	23					0	0	0.029380	0	0
SLC25A53	401612	broad.mit.edu	37	X	103349504	103349504	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:103349504C>T	uc022cbz.1	-	0	437	c.437G>A	c.(436-438)cGc>cAc	p.R146H	SLC25A53_uc004elu.3_Missense_Mutation_p.R146H	NM_001012755	NP_001012773	Q5H9E4	MCAR6_HUMAN	Homo sapiens mitochondrial carrier triple repeat 6 (MCART6), nuclear gene encoding mitochondrial protein, mRNA.	146					transport	integral to membrane|mitochondrial inner membrane		p.R146H(1)									AGCTTGCTTGCGACCATCCTG	0.587000													67	100					0	0	0.139131	0	0
PC	5091	broad.mit.edu	37	11	66636386	66636386	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr11:66636386C>T	uc001ojn.1	-	7	1002	c.953G>A	c.(952-954)gGc>gAc	p.G318D	PC_uc001ojo.1_Missense_Mutation_p.G318D|PC_uc001ojp.1_Missense_Mutation_p.G318D	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	318	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTAGTGCTTGCCGTGCCTGTC	0.677000													32	40					0	0	0.050027	0	0
SF3B1	23451	broad.mit.edu	37	2	198268407	198268407	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr2:198268407A>G	uc002uue.3	-	11	1669	c.1621T>C	c.(1621-1623)Tct>Cct	p.S541P		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	541	Interaction with SF3B14.				nuclear mRNA splicing, via spliceosome	U12-type spliceosomal complex|catalytic step 2 spliceosome|nuclear speck	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGTGTAGGAGACATCAGCAGA	0.408000			Mis		myelodysplastic syndrome								27	22					0	0	0.099896	0	0
LOC146481	146481	broad.mit.edu	37	16	34712226	34712226	+	RNA	SNP	T	T	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr16:34712226T>A	uc002edx.3	-	1		c.1129A>T			LOC146481_uc010vgd.1_Non-coding_Transcript					Homo sapiens FSHD region gene 2 family, member C pseudogene (LOC146481), non-coding RNA.																		AGCTCAAGCCTCATCTGACCC	0.532000													4	17					0	0	0.009096	0	0
HSD17B4	3295	broad.mit.edu	37	5	118867014	118867014	+	Silent	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr5:118867014G>A	uc003ksj.3	+	21	2041	c.1908G>A	c.(1906-1908)aaG>aaA	p.K636K	HSD17B4_uc011cwh.2_Silent_p.K618K|HSD17B4_uc011cwg.2_Silent_p.K612K|HSD17B4_uc011cwi.2_Silent_p.K661K|HSD17B4_uc003ksk.4_Silent_p.K489K|HSD17B4_uc011cwj.2_Silent_p.K489K|HSD17B4_uc010jcn.2_Silent_p.K374K	NM_000414	NP_000405	P51659	DHB4_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), transcript variant 2, mRNA.	636	SCP2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	GCCGCCTAAAGGATATTGGGC	0.403000													39	45					0	0	0.080422	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								23	47					0	0	0.091800	0	0
OR2T11	127077	broad.mit.edu	37	1	248789593	248789593	+	Silent	SNP	C	C	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr1:248789593C>T	uc001ier.1	-	0	837	c.837G>A	c.(835-837)acG>acA	p.T279T		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAAGCATGGGCGTGACAATGG	0.488000													11	105					0	0	0.069234	0	0
PIEZO2	63895	broad.mit.edu	37	18	10671757	10671757	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr18:10671757A>T	uc002kos.2	-	51	8200	c.8026T>A	c.(8026-8028)Tca>Aca	p.S2676T	PIEZO2_uc002koq.3_Missense_Mutation_p.S468T	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	Homo sapiens piezo-type mechanosensitive ion channel component 2 (PIEZO2), mRNA.	2676						integral to membrane	ion channel activity										AGGACAACTGAAGCATATAAT	0.318000													11	82					0	0	0.080935	0	0
GTPBP4	23560	broad.mit.edu	37	10	1061799	1061799	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr10:1061799G>A	uc001ift.3	+	15	1786	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	GTPBP4_uc010qad.2_Missense_Mutation_p.R456Q|GTPBP4_uc010qae.2_Missense_Mutation_p.R525Q	NM_012341	NP_036473	Q9BZE4	NOG1_HUMAN	Homo sapiens GTP binding protein 4 (GTPBP4), mRNA.	572					negative regulation of DNA replication|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		AGTTGCTCTCGAACTCCACGT	0.507000													10	191					0	0	0.058154	0	0
PARG	8505	broad.mit.edu	37	10	51093329	51093329	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr10:51093329C>T	uc001jih.3	-	8	1891	c.1750G>A	c.(1750-1752)Gca>Aca	p.A584T	PARG_uc009xoj.3_Missense_Mutation_p.A135T|PARG_uc001jif.3_Missense_Mutation_p.A584T|PARG_uc001jig.3_Missense_Mutation_p.A170T|PARG_uc010qgv.2_Intron|PARG_uc009xoi.3_Intron|PARG_uc010qgw.2_Missense_Mutation_p.A475T|PARG_uc010qgx.2_Missense_Mutation_p.A502T	NM_003631	NP_003622	Q86W56	PARG_HUMAN	Homo sapiens poly (ADP-ribose) glycohydrolase (PARG), mRNA.	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(2)		endometrium(5)|kidney(2)|lung(1)|ovary(2)	10				Epithelial(53;0.213)		TGAGCTTCTGCTTCTTCAAGT	0.318000													5	72					0	0	0.014758	0	0
FGD3	89846	broad.mit.edu	37	9	95795123	95795123	+	Silent	SNP	C	C	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr9:95795123C>T	uc004asz.2	+	15	2281	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	FGD3_uc004asw.2_Silent_p.L585L|FGD3_uc004asx.2_Silent_p.L585L|FGD3_uc011luc.1_Silent_p.L188L	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	585					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	Golgi apparatus|cytoskeleton|cytosol|lamellipodium|ruffle	Rho guanyl-nucleotide exchange factor activity|metal ion binding|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGATTGTTTCCTGACACAGCC	0.637000													6	119					0	0	0.029380	0	0
PPP1R16B	26051	broad.mit.edu	37	20	37536526	37536526	+	Silent	SNP	C	C	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr20:37536526C>T	uc002xje.3	+	8	1165	c.976C>T	c.(976-978)Ctg>Ttg	p.L326L	PPP1R16B_uc010ggc.3_Silent_p.L284L	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	326					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GAAGTCACAGCTGAGGCACAA	0.592000													17	41					0	0	0.038395	0	0
MAP3K13	9175	broad.mit.edu	37	3	185161416	185161416	+	Silent	SNP	A	A	G			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr3:185161416A>G	uc010hyf.3	+	4	1134	c.843A>G	c.(841-843)aaA>aaG	p.K281K	MAP3K13_uc011brt.2_Silent_p.K74K|MAP3K13_uc003fph.4_Silent_p.K49K|MAP3K13_uc011bru.2_Silent_p.K137K|MAP3K13_uc003fpi.3_Silent_p.K281K|MAP3K13_uc010hyg.3_Intron	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	281	Protein kinase.				JNK cascade|activation of MAPKK activity|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|MAP kinase kinase kinase activity|magnesium ion binding|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GTGATCTCAAATCACCTAAGT	0.378000													38	56					0	0	0.098360	0	0
XK	7504	broad.mit.edu	37	X	37587096	37587096	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:37587096T>A	uc004ddq.3	+	2	798	c.716T>A	c.(715-717)gTt>gAt	p.V239D		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	239					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				TGGGTGGTGGTTATAATACTC	0.498000													13	27					0	0	0.093190	0	0
OR9A2	135924	broad.mit.edu	37	7	142723665	142723665	+	Silent	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr7:142723665G>A	uc003wcc.1	-	0	555	c.555C>T	c.(553-555)tgC>tgT	p.C185C		NM_001001658	NP_001001658	Q8NGT5	OR9A2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 2 (OR9A2), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GAGTGTTATCGCAGGACAGTT	0.393000													48	185					0	0	0.139131	0	0
HTR2B	3357	broad.mit.edu	37	2	231973908	231973908	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr2:231973908G>A	uc002vro.3	-	3	1274	c.769C>T	c.(769-771)Caa>Taa	p.Q257*	PSMD1_uc002vrn.2_Intron|PSMD1_uc002vrm.2_Intron|PSMD1_uc010fxu.2_Intron|HTR2B_uc010fxv.3_Nonsense_Mutation_p.Q190*	NM_000867	NP_000858	P41595	5HT2B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2B (HTR2B), mRNA.	257					ERK1 and ERK2 cascade|G-protein coupled receptor internalization|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cGMP biosynthetic process|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|embryonic morphogenesis|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	G-protein alpha-subunit binding|Ras GTPase activator activity|calcium channel activity|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	GTTAGGCGTTGAGGTGGCTTG	0.453000													40	61					0	0	0.098360	0	0
NFRKB	4798	broad.mit.edu	37	11	129739825	129739825	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr11:129739825G>A	uc001qfg.3	-	21	3291	c.3170C>T	c.(3169-3171)cCt>cTt	p.P1057L	NFRKB_uc001qfi.3_Missense_Mutation_p.P1032L|NFRKB_uc001qfh.3_Missense_Mutation_p.P1055L|NFRKB_uc010sbw.1_Missense_Mutation_p.P1042L|NFRKB_uc009zcr.3_Missense_Mutation_p.P318L	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	1032					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding	p.A1056A(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		AGTGGATGAAGGGGCACTGGC	0.542000													6	69					0	0	0.021553	0	0
USP11	8237	broad.mit.edu	37	X	47101045	47101045	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:47101045G>A	uc004dhp.3	+	8	1255	c.1255G>A	c.(1255-1257)Gtg>Atg	p.V419M	USP11_uc004dhq.3_Missense_Mutation_p.V146M	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	419					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.V419V(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CCTTAATCGGGTGAAGAAGAA	0.557000													36	25					0	0	0.054565	0	0
NUMA1	4926	broad.mit.edu	37	11	71718269	71718269	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr11:71718269C>T	uc001orl.1	-	20	5601	c.5429G>A	c.(5428-5430)cGc>cAc	p.R1810H	NUMA1_uc001orj.2_5'UTR|NUMA1_uc009ysw.1_Missense_Mutation_p.R1377H|NUMA1_uc001ork.1_Missense_Mutation_p.R674H|NUMA1_uc001orm.1_Missense_Mutation_p.R1796H|NUMA1_uc001orn.2_3'UTR	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1810					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGCGTGGTGCGCCGACGAGC	0.632000			T	RARA	APL								3	22					0	0	0.014758	0	0
PTPN18	26469	broad.mit.edu	37	2	131129929	131129934	+	In_Frame_Del	DEL	GACGGG	GACGGG	-	rs112040677		TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr2:131129929_131129934delGACGGG	uc002trc.3	+	12	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cagacgggg>cag	p.TG378del	PTPN18_uc002trb.3_In_Frame_Del_p.TG271del|PTPN18_uc002tre.3_In_Frame_Del_p.TG29del	NM_014369	NP_055184	Q99952	PTN18_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.	378				Missing (in Ref. 1; CAA56105).		cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													4	7	---	---	---	---					
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr10:30316501_30316503delCTG	uc009xle.2	-	2	2711_2713	c.2574_2576delCAG	c.(2572-2577)agcagt>agt	p.858_859SS>S	KIAA1462_uc001iux.3_In_Frame_Del_p.858_859SS>S|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_In_Frame_Del_p.720_721SS>S	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	858	Ser-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571													8	87	---	---	---	---					
CPEB3	22849	broad.mit.edu	37	10	93999920	93999920	+	Frame_Shift_Del	DEL	G	G	-			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr10:93999920delG	uc001khw.2	-	1	392	c.188delC	c.(187-189)ccgfs	p.P63fs	CPEB3_uc001khu.2_Frame_Shift_Del_p.P63fs|CPEB3_uc001khv.2_Frame_Shift_Del_p.P63fs|CPEB3_uc010qnn.2_Frame_Shift_Del_p.P63fs	NM_014912	NP_055727	Q8NE35	CPEB3_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 3 (CPEB3), transcript variant 1, mRNA.	63	Pro-rich.						RNA binding|nucleotide binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GTTGGGGGCCGGGGGGGCAGC	0.692													2	4	---	---	---	---					
SMARCA4	6597	broad.mit.edu	37	19	11144096	11144098	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr19:11144096_11144098delAGA	uc010dxp.3	+	26	4037_4039	c.3677_3679delAGA	c.(3676-3681)cagaag>cag	p.K1227del	SMARCA4_uc010dxo.3_In_Frame_Del_p.K1227del|SMARCA4_uc002mqf.4_In_Frame_Del_p.K1227del|SMARCA4_uc010dxq.3_In_Frame_Del_p.K1227del|SMARCA4_uc010dxr.3_In_Frame_Del_p.K1227del|SMARCA4_uc002mqj.4_In_Frame_Del_p.K1227del|SMARCA4_uc010dxs.3_In_Frame_Del_p.K1227del|SMARCA4_uc010dxt.1_In_Frame_Del_p.K447del|SMARCA4_uc002mqh.4_In_Frame_Del_p.K350del|SMARCA4_uc002mqi.1_In_Frame_Del_p.K430del	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1227	Helicase C-terminal.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AACGTGGACCAGAAGGTGATCCA	0.616			"""F, N, Mis"""		NSCLC								48	104	---	---	---	---					
IL4I1	259307	broad.mit.edu	37	19	50394683	50394685	+	In_Frame_Del	DEL	CTT	CTT	-			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr19:50394683_50394685delCTT	uc002pqv.2	-	8	1469_1471	c.640_642delAAG	c.(640-642)aagdel	p.K214del	IL4I1_uc002pqt.1_In_Frame_Del_p.K205del|IL4I1_uc021uxy.1_In_Frame_Del_p.K227del|IL4I1_uc002pqu.2_In_Frame_Del_p.K227del|IL4I1_uc010eno.2_In_Frame_Del_p.K213del	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	205						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		GCCTTTCAAACTTCTTCATCGCC	0.571													22	105	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76940037	76940038	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:76940037_76940038insT	uc004ecp.4	-	8	942_943	c.710_711insA	c.(709-711)aatfs	p.N237fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.N199fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.N22fs|ATRX_uc004ecr.2_Frame_Shift_Ins_p.N198fs|ATRX_uc010nlx.1_Frame_Shift_Ins_p.N237fs|ATRX_uc010nly.1_Frame_Shift_Ins_p.N182fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	237	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	TGCAGAAAGCATTATGGCAAAA	0.381			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						121	137	---	---	---	---					
