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	ENST00000343325.4	+	4	1668	c.1506G>T	c.(1504-1506)ggG>ggT	p.G502G	ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000458122.3_Silent_p.G470G|ZNF791_ENST00000540038.1_Silent_p.G393G	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	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	1.79608e-21	0.086207	1	0
SSX1	6756	broad.mit.edu	37	X	48116711	48116711	+	Missense_Mutation	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:48116711G>T	ENST00000376919.3	+	2	171	c.35G>T	c.(34-36)aGg>aTg	p.R12M		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						AAGAGACCCAGGGATGATGCT	0.547000			T	SS18	synovial sarcoma								4	64					1.23904e-05	1.31192e-05	0.014758	1	0
TNFRSF10D	8793	broad.mit.edu	37	8	23004486	23004486	+	Missense_Mutation	SNP	G	G	A	rs149074636	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.chr8:23004486G>A	ENST00000312584.3	-	4	564	c.470C>T	c.(469-471)aCg>aTg	p.T157M		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	157					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TGTTCTACACGTCCGGCACAT	0.507000													5	100					0	0	0.014758	0	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	ENST00000261800.5	-	9	5147	c.5135T>C	c.(5134-5136)aTt>aCt	p.I1712T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	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	ENST00000420246.2	-	8	941	c.809T>C	c.(808-810)tTt>tCt	p.F270S	TP53_ENST00000445888.2_Missense_Mutation_p.F270S|TP53_ENST00000359597.4_Missense_Mutation_p.F270S|TP53_ENST00000455263.2_Missense_Mutation_p.F270S|TP53_ENST00000269305.4_Missense_Mutation_p.F270S|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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 drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|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|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|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor 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(15)|p.0?(8)|p.F270S(8)|p.F270Y(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(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	ENST00000164640.4	-	8	1535	c.1344C>A	c.(1342-1344)ccC>ccA	p.P448P	PDZD4_ENST00000393758.2_Silent_p.P373P|PDZD4_ENST00000544474.1_Silent_p.P339P	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	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	1.05334e-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	ENST00000326974.4	+	8	1094	c.899G>A	c.(898-900)gGt>gAt	p.G300D	KLHDC3_ENST00000332245.8_Missense_Mutation_p.G241D|KLHDC3_ENST00000244670.8_Missense_Mutation_p.G166D	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	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	ENST00000432191.2	+	9	864	c.792G>A	c.(790-792)ctG>ctA	p.L264L	PPHLN1_ENST00000337898.6_Silent_p.L264L|PPHLN1_ENST00000552761.1_Silent_p.L271L|PPHLN1_ENST00000256678.8_Silent_p.L199L|PPHLN1_ENST00000549190.1_Silent_p.L337L|PPHLN1_ENST00000317560.9_Silent_p.L252L|PPHLN1_ENST00000449194.2_Silent_p.L300L|PPHLN1_ENST00000358314.7_Silent_p.L319L|PPHLN1_ENST00000395568.2_Silent_p.L319L|PPHLN1_ENST00000395580.3_Silent_p.L326L	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	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	ENST00000368911.3	-	13	1589	c.1410C>A	c.(1408-1410)agC>agA	p.S470R	CDK19_ENST00000413605.2_Missense_Mutation_p.S346R|CDK19_ENST00000323817.3_Missense_Mutation_p.S410R	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	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	7.62764e-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	ENST00000328526.5	-	3	1723	c.1158A>T	c.(1156-1158)aaA>aaT	p.K386N	XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000372956.2_Missense_Mutation_p.K373N	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	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	ENST00000375782.1	+	6	1144	c.1006C>A	c.(1006-1008)Cag>Aag	p.Q336K	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	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	3.46923e-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	ENST00000274532.2	-	7	984	c.928A>T	c.(928-930)Atg>Ttg	p.M310L	TIMD4_ENST00000406964.1_Missense_Mutation_p.M12L|TIMD4_ENST00000407087.3_Missense_Mutation_p.M282L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	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	+	Translation_Start_Site	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	ENST00000376106.3	-	0	607				DLG2_ENST00000543673.1_Silent_p.H363H|DLG2_ENST00000524982.1_Silent_p.H258H|DLG2_ENST00000280241.8_Silent_p.H297H|DLG2_ENST00000537455.1_Silent_p.H12H|DLG2_ENST00000376104.2_Silent_p.H363H|DLG2_ENST00000532653.1_Silent_p.H258H|DLG2_ENST00000398309.2_Silent_p.H258H|DLG2_ENST00000531015.1_Silent_p.H225H|DLG2_ENST00000398301.2_Silent_p.H297H|DLG2_ENST00000330014.6_Silent_p.H197H|DLG2_ENST00000418306.2_Silent_p.H207H			Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)							cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			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
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	ENST00000508177.1	-	6	1566	c.808T>C	c.(808-810)Tac>Cac	p.Y270H	GNPDA1_ENST00000311337.6_Missense_Mutation_p.Y270H|GNPDA1_ENST00000458112.2_Missense_Mutation_p.Y236H|GNPDA1_ENST00000513454.1_Intron|GNPDA1_ENST00000500692.2_Missense_Mutation_p.Y270H|GNPDA1_ENST00000542860.1_Missense_Mutation_p.Y193H|GNPDA1_ENST00000503794.1_Missense_Mutation_p.Y270H			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	270					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic 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	ENST00000216080.5	-	6	1001	c.833C>T	c.(832-834)aCg>aTg	p.T278M	LMF2_ENST00000474879.2_Missense_Mutation_p.T303M|LMF2_ENST00000380796.3_Missense_Mutation_p.T303M			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	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	ENST00000535591.1	-	4	1419	c.1224C>A	c.(1222-1224)ccC>ccA	p.P408P		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	408								p.P408P(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	6.96118e-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	ENST00000441802.2	-	19	11252	c.11043T>C	c.(11041-11043)gtT>gtC	p.V3681V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	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	ENST00000357421.4	-	2	617	c.437G>A	c.(436-438)cGc>cAc	p.R146H		NM_001012755.3	NP_001012773.2	Q5H9E4	MCAR6_HUMAN	solute carrier family 25, member 53	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	ENST00000393960.1	-	10	1234	c.953G>A	c.(952-954)gGc>gAc	p.G318D	PC_ENST00000393955.2_Missense_Mutation_p.G318D|PC_ENST00000393958.2_Missense_Mutation_p.G318D|PC_ENST00000355677.3_Missense_Mutation_p.G318D|PC_ENST00000524491.1_Missense_Mutation_p.G278D	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	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	ENST00000335508.5	-	12	1712	c.1621T>C	c.(1621-1623)Tct>Cct	p.S541P		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa	541	Interaction with SF3B14.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	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
RP11-80F22.9	0	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	ENST00000569028.2	-	0	1128																											AGCTCAAGCCTCATCTGACCC	0.532000													4	17					0	0	0.009096	0	0
PPP4R4	57718	broad.mit.edu	37	14	94674875	94674875	+	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.chr14:94674875C>T	ENST00000304338.3	+	3	420	c.266C>T	c.(265-267)aCg>aTg	p.T89M	PPP4R4_ENST00000328839.3_Missense_Mutation_p.T89M|PPP4R4_ENST00000555690.1_3'UTR	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	89						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.T89M(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCCACTGAGACGCTTCGGAGA	0.388000													3	35					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	ENST00000504811.1	+	23	2167	c.1983G>A	c.(1981-1983)aaG>aaA	p.K661K	HSD17B4_ENST00000510025.1_Silent_p.K612K|HSD17B4_ENST00000414835.2_Silent_p.K496K|HSD17B4_ENST00000509514.1_Silent_p.K374K|HSD17B4_ENST00000513628.1_Silent_p.K499K|HSD17B4_ENST00000515320.1_Silent_p.K618K|HSD17B4_ENST00000256216.6_Silent_p.K636K|HSD17B4_ENST00000522415.1_3'UTR	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	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	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								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	ENST00000330803.2	-	1	898	c.837G>A	c.(835-837)acG>acA	p.T279T		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	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	ENST00000302079.6	-	51	7836	c.7837T>A	c.(7837-7839)Tca>Aca	p.S2613T	PIEZO2_ENST00000580640.1_Missense_Mutation_p.S2701T|PIEZO2_ENST00000581680.1_5'UTR|PIEZO2_ENST00000538948.1_Missense_Mutation_p.S633T|PIEZO2_ENST00000503781.3_Missense_Mutation_p.S2676T|PIEZO2_ENST00000285141.4_Missense_Mutation_p.S468T			Q9H5I5	PIEZ2_HUMAN	piezo-type mechanosensitive ion channel component 2	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	ENST00000360803.4	+	16	1797	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	GTPBP4_ENST00000545048.1_Missense_Mutation_p.R525Q|GTPBP4_ENST00000538293.1_Missense_Mutation_p.R456Q	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	572					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|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	ENST00000402038.3	-	4	294	c.295G>A	c.(295-297)Gca>Aca	p.A99T		NM_003631.2	NP_003622.2	Q86W56	PARG_HUMAN	poly (ADP-ribose) glycohydrolase	584					carbohydrate metabolic process	nucleus	poly(ADP-ribose) glycohydrolase activity	p.A584T(1)		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	ENST00000375482.3	+	16	2249	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	FGD3_ENST00000538555.1_Silent_p.L188L|FGD3_ENST00000337352.6_Silent_p.L585L|FGD3_ENST00000416701.2_Silent_p.L585L	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	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	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|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	ENST00000299824.1	+	9	1165	c.976C>T	c.(976-978)Ctg>Ttg	p.L326L	PPP1R16B_ENST00000373331.2_Silent_p.L284L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	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	ENST00000265026.3	+	4	1177	c.843A>G	c.(841-843)aaA>aaG	p.K281K	MAP3K13_ENST00000446828.1_Silent_p.K74K|MAP3K13_ENST00000443863.1_Silent_p.K137K|MAP3K13_ENST00000424227.1_Silent_p.K281K|MAP3K13_ENST00000535426.1_Silent_p.K137K	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	281	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|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	ENST00000378616.3	+	3	919	c.716T>A	c.(715-717)gTt>gAt	p.V239D	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	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	ENST00000350513.2	-	1	617	c.555C>T	c.(553-555)tgC>tgT	p.C185C		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	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	ENST00000258400.3	-	4	1281	c.769C>T	c.(769-771)Caa>Taa	p.Q257*	PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	257					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|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 cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|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	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator 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
DNM1P47	0	broad.mit.edu	37	15	102304783	102304783	+	RNA	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.chr15:102304783G>A	ENST00000561463.1	+	0	12829																											GACGAGACTCGCGTGGGAAGA	0.592000													7	4					0	0	0.058154	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	ENST00000446488.3	-	23	3198	c.3095C>T	c.(3094-3096)cCt>cTt	p.P1032L	NFRKB_ENST00000304521.5_Missense_Mutation_p.P1032L|NFRKB_ENST00000524746.1_Missense_Mutation_p.P1032L|NFRKB_ENST00000524794.1_Missense_Mutation_p.P1057L	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1032					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			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
RAB8A	4218	broad.mit.edu	37	19	16238875	16238875	+	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.chr19:16238875G>A	ENST00000300935.3	+	6	727	c.454G>A	c.(454-456)Gcg>Acg	p.A152T	CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Missense_Mutation_p.A152T	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	152					cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						GGAGACCAGCGCGAAGGCCAA	0.617000													3	30					0	0	0.115264	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	ENST00000377107.2	+	9	1480	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	USP11_ENST00000218348.3_Missense_Mutation_p.V419M			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	419					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			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
ZNF571	51276	broad.mit.edu	37	19	38055540	38055540	+	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.chr19:38055540C>T	ENST00000328550.2	-	4	1889	c.1790G>A	c.(1789-1791)tGt>tAt	p.C597Y	ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.C597Y|ZNF571_ENST00000451802.2_Missense_Mutation_p.C597Y|ZNF571_ENST00000593133.1_Missense_Mutation_p.C597Y			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTGTGAAGGACATCTAAAGTC	0.373000													11	27					0	0	0.080935	0	0
NUMA1	0	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	ENST00000393695.3	-	21	5760	c.5429G>A	c.(5428-5430)cGc>cAc	p.R1810H	NUMA1_ENST00000358965.6_Missense_Mutation_p.R1796H|NUMA1_ENST00000351960.6_Missense_Mutation_p.R674H	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	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	ENST00000175756.5	+	13	1214_1219	c.1113_1118delGACGGG	c.(1111-1119)cag>ca	p.QTG371del	PTPN18_ENST00000347849.3_In_Frame_Del_p.QTG264del	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	371						cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity	p.T378_G379delTG(1)		endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					gtgggacgcagacggggacggggacg	0.777													4	7	---	---	---	---					
RP11-368M16.3	0	broad.mit.edu	37	7	57698565	57698566	+	RNA	INS	-	-	TGGG			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.chr7:57698565_57698566insTGGG	ENST00000605139.1	-	0	416																											CACAGGAGACCTGGGCTGCAGG	0.584													3	3	---	---	---	---					
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	ENST00000375377.1	-	3	2675_2677	c.2574_2576delCAG	c.(2572-2577)agt>ag	p.SS858del		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	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	ENST00000412050.4	-	2	276	c.188delC	c.(187-189)cgfs	p.P63fs	CPEB3_ENST00000265997.4_Frame_Shift_Del_p.P63fs	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	63	Pro-rich.						nucleotide binding|RNA 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	ENST00000358026.2	+	26	3961_3963	c.3677_3679delAGA	c.(3676-3681)cag>c	p.QK1226del	SMARCA4_ENST00000450717.3_In_Frame_Del_p.QK1226del|SMARCA4_ENST00000429416.3_In_Frame_Del_p.QK1226del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.QK1226del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.QK1226del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.QK1226del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.QK1226del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.QK1226del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.QK1226del	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1226	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|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	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|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	ENST00000595948.1	-	8	1299_1301	c.679_681delAAG	c.(679-681)del	p.K227del	IL4I1_ENST00000391826.2_In_Frame_Del_p.K205del|IL4I1_ENST00000341114.3_In_Frame_Del_p.K227del	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	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	ENST00000373344.5	-	9	924_925	c.710_711insA	c.(709-711)agcfs	p.S237fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.S199fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	237	ADD.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|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	---	---	---	---