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
DNAH7	56171	broad.mit.edu	37	2	196765182	196765182	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr2:196765182A>G	ENST00000312428.6	-	28	4472	c.4372T>C	c.(4372-4374)Tat>Cat	p.Y1458H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1458	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCATGGCATAGTCAGGTACC	0.418000													9	137					0	0	1	0	0
CLCNKB	1188	broad.mit.edu	37	1	16378309	16378309	+	Silent	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr1:16378309C>T	ENST00000375679.4	+	14	1513	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L	CLCNKB_ENST00000375667.3_Silent_p.L299L	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGTATGCTCTGGCAGGTGA	0.622000													30	51					0	0	1	0	0
ZKSCAN2	342357	broad.mit.edu	37	16	25251836	25251836	+	Silent	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr16:25251836G>A	ENST00000328086.7	-	7	3008	c.2205C>T	c.(2203-2205)gcC>gcT	p.A735A		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	735					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GATGCACAACGGCTTTCCCTA	0.473000													26	50					0	0	1	0	0
SLC24A3	57419	broad.mit.edu	37	20	19677486	19677486	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr20:19677486G>A	ENST00000328041.6	+	14	1734	c.1537G>A	c.(1537-1539)Ggg>Agg	p.G513R		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	513						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CGTCATCATGGGGATCACCTT	0.592000													14	28					0	0	1	0	0
LRRC8A	56262	broad.mit.edu	37	9	131671134	131671134	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr9:131671134A>G	ENST00000259324.5	+	3	2214	c.1691A>G	c.(1690-1692)gAt>gGt	p.D564G	LRRC8A_ENST00000372599.3_Missense_Mutation_p.D564G|LRRC8A_ENST00000372600.4_Missense_Mutation_p.D564G	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	564					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GTGGTCACAGATGTGGGCGTG	0.572000													11	26					0	0	1	0	0
DNAH10	196385	broad.mit.edu	37	12	124335566	124335566	+	Silent	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr12:124335566C>T	ENST00000409039.3	+	34	5905	c.5880C>T	c.(5878-5880)ccC>ccT	p.P1960P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1960	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGATCGTGCCCGACCTGCAGC	0.632000													17	42					0	0	1	0	0
ADAM2	2515	broad.mit.edu	37	8	39634592	39634592	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr8:39634592T>C	ENST00000265708.4	-	11	1083	c.980A>G	c.(979-981)aAc>aGc	p.N327S	ADAM2_ENST00000379853.2_Missense_Mutation_p.N201S|ADAM2_ENST00000347580.4_Missense_Mutation_p.N308S|ADAM2_ENST00000521880.1_Missense_Mutation_p.N327S	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	327	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTGGCATTTGTTAATGTCATC	0.338000													3	37					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	rs28934578		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.R175_H178>X(1)|p.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.R174fs*3(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)		GTGGGGGCAGCGCCTCACAAC	0.652000	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			53	19					0	0	1	0	0
FANCD2OS	115795	broad.mit.edu	37	3	10146220	10146220	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr3:10146220C>T	ENST00000450660.2	-	2	455	c.239G>A	c.(238-240)cGc>cAc	p.R80H	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.R80H	NM_001164839.1	NP_001158311.1			FANCD2 opposite strand																		GTTCATCGTGCGCAACTCTGA	0.532000													5	50					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48687284	48687284	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:48687284A>C	ENST00000359106.5	+	26	4747	c.4747A>C	c.(4747-4749)Agc>Cgc	p.S1583R	CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1560R|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1590R|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1583R|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1583R|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1560R|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1583R|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1583R|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1526R|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S1549R|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000514181.1_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1583					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGCTCAGCCAGCGCTGCGTC	0.587000													3	34					0	0	1	0	0
DPPA3P2	0	broad.mit.edu	37	14	36841171	36841171	+	RNA	SNP	A	A	G			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr14:36841171A>G	ENST00000557188.1	+	0	802																											CTATGCTAGTATAGACTATAC	0.323000													4	25					0	0	1	0	0
RPL7A	6130	broad.mit.edu	37	9	136216484	136216484	+	Missense_Mutation	SNP	C	C	G			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr9:136216484C>G	ENST00000323345.6	+	3	233	c.203C>G	c.(202-204)gCc>gGc	p.A68G	RPL7A_ENST00000315731.4_Intron|RPL7A_ENST00000463740.1_3'UTR	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	68					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		CGGCAGAGAGCCATCCTCTAT	0.552000													4	60					0	0	1	0	0
C19orf26	255057	broad.mit.edu	37	19	1231248	1231248	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:1231248G>A	ENST00000590083.1	-	9	1298	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	C19orf26_ENST00000215376.6_Missense_Mutation_p.R330W|C19orf26_ENST00000382477.2_Missense_Mutation_p.R356W			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	356						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGCTGCCGCTGGAAGTGG	0.667000										HNSCC(14;0.022)			31	54					0	0	1	0	0
SUMO2	6613	broad.mit.edu	37	17	73177151	73177151	+	Splice_Site	SNP	C	C	G			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:73177151C>G	ENST00000420826.2	-	2	302		c.e2+1		SUMO2_ENST00000578238.1_Splice_Site|SUMO2_ENST00000314523.7_Splice_Site	NM_006937.3	NP_008868.3	P61956	SUMO2_HUMAN	small ubiquitin-like modifier 2						positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation	nucleus	ubiquitin protein ligase binding			NS(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					GAATTCCTCACCTGTCGTTCA	0.363000													15	41					0	0	1	0	0
SPOCD1	90853	broad.mit.edu	37	1	32256502	32256502	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr1:32256502C>T	ENST00000360482.2	-	16	3482	c.3353G>A	c.(3352-3354)cGc>cAc	p.R1118H	RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000533231.1_Missense_Mutation_p.R1105H|SPOCD1_ENST00000373648.2_3'UTR|SPOCD1_ENST00000257100.3_Missense_Mutation_p.R598H	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1118					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTGGGACTGGCGCAAGCCTGG	0.667000													5	9					0	0	1	0	0
KCNJ15	3772	broad.mit.edu	37	21	39671533	39671533	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr21:39671533C>T	ENST00000398930.1	+	4	704	c.350C>T	c.(349-351)gCg>gTg	p.A117V	KCNJ15_ENST00000328656.3_Missense_Mutation_p.A117V|KCNJ15_ENST00000398932.1_Missense_Mutation_p.A117V|KCNJ15_ENST00000398938.2_Missense_Mutation_p.A117V|KCNJ15_ENST00000398934.1_Missense_Mutation_p.A117V			Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15	117					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CTCACTGGGGCGTTTCTCTTT	0.493000													10	107					0	0	1	0	0
TST	7263	broad.mit.edu	37	22	37407129	37407129	+	Missense_Mutation	SNP	T	T	G			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:37407129T>G	ENST00000403892.3	-	2	1567	c.833A>C	c.(832-834)gAg>gCg	p.E278A	TST_ENST00000249042.3_Missense_Mutation_p.E278A	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	278	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GCGAAACCACTCGGACCAGGA	0.637000													4	75					0	0	1	0	0
PVR	5817	broad.mit.edu	37	19	45153147	45153147	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:45153147G>A	ENST00000425690.3	+	3	793	c.494G>A	c.(493-495)cGc>cAc	p.R165H	PVR_ENST00000406449.4_Missense_Mutation_p.R165H|PVR_ENST00000403059.4_Missense_Mutation_p.R165H|PVR_ENST00000344956.4_Missense_Mutation_p.R165H|CTB-171A8.1_ENST00000590796.1_RNA	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	165	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CCCATGGCCCGCTGCGTCTCC	0.612000													20	137					0	0	1	0	0
LILRA1	11024	broad.mit.edu	37	19	55106273	55106273	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:55106273C>T	ENST00000453777.1	+	4	384	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRA1_ENST00000251372.3_Missense_Mutation_p.R72W|LILRB1_ENST00000448689.1_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	72	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGGATTACACGGATCCCACA	0.562000													47	80					0	0	1	0	0
WRAP53	55135	broad.mit.edu	37	17	7592042	7592042	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:7592042T>C	ENST00000316024.5	+	1	2424	c.76T>C	c.(76-78)Tct>Cct	p.S26P	WRAP53_ENST00000534050.1_Missense_Mutation_p.S26P|WRAP53_ENST00000457584.2_Missense_Mutation_p.S26P|WRAP53_ENST00000431639.2_Missense_Mutation_p.S26P|WRAP53_ENST00000396463.2_Missense_Mutation_p.S26P			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	26	Pro-rich.				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						AGCCCATCCTTCTCCCCACGC	0.587000													19	59					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								27	38					0	0	1	0	0
CNKSR2	22866	broad.mit.edu	37	X	21534627	21534627	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chrX:21534627G>T	ENST00000425654.2	+	9	1315	c.835G>T	c.(835-837)Gtg>Ttg	p.V279L	CNKSR2_ENST00000379510.3_Missense_Mutation_p.V279L|CNKSR2_ENST00000543067.1_Intron|CNKSR2_ENST00000279451.4_Missense_Mutation_p.V279L	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	279	PDZ.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GAAAAATTTGGTGAATGCACT	0.398000													23	9					5.35356e-11	5.57662e-11	1	1	0
KRTAP19-2	337969	broad.mit.edu	37	21	31859568	31859568	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr21:31859568C>T	ENST00000334055.3	-	1	187	c.100G>A	c.(100-102)Gga>Aga	p.G34R		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	34						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CAGCCATCTCCACAGCCTCTG	0.512000													8	146					0	0	1	0	0
GGT3P	0	broad.mit.edu	37	22	18769203	18769203	+	RNA	SNP	G	G	A	rs111245818		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:18769203G>A	ENST00000412448.1	-	0	1083																											AGCCAGCCGCGGCAGGGTCAG	0.637000													4	71					0	0	1	0	0
SCN5A	6331	broad.mit.edu	37	3	38598771	38598771	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr3:38598771G>A	ENST00000413689.1	-	24	4443	c.4250C>T	c.(4249-4251)aCa>aTa	p.T1417I	SCN5A_ENST00000450102.2_Missense_Mutation_p.T1363I|SCN5A_ENST00000414099.2_Intron|SCN5A_ENST00000333535.4_Missense_Mutation_p.T1417I|SCN5A_ENST00000451551.2_Missense_Mutation_p.T1363I|SCN5A_ENST00000449557.2_Missense_Mutation_p.T1363I|SCN5A_ENST00000443581.1_Missense_Mutation_p.T1416I|SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000455624.2_Missense_Mutation_p.T1416I|SCN5A_ENST00000423572.2_Missense_Mutation_p.T1416I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1417					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCCTTTAAATGTTGCCTGGGA	0.498000													7	32					0	0	1	0	0
PRMT10	90826	broad.mit.edu	37	4	148594115	148594115	+	Silent	SNP	G	G	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr4:148594115G>T	ENST00000322396.6	-	4	980	c.738C>A	c.(736-738)ccC>ccA	p.P246P	PRMT10_ENST00000541232.1_Silent_p.P133P	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	246						cytoplasm	binding|protein methyltransferase activity	p.P246P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AATACCTTTCGGGAATATGTT	0.328000													29	88					2.48696e-23	2.6457e-23	1	1	0
NWD1	284434	broad.mit.edu	37	19	16860740	16860740	+	Silent	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:16860740C>T	ENST00000524140.2	+	6	1705	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	NWD1_ENST00000339803.6_Silent_p.F294F|NWD1_ENST00000552788.1_Silent_p.F429F|NWD1_ENST00000549814.1_Silent_p.F429F|NWD1_ENST00000523826.1_Silent_p.F223F|NWD1_ENST00000379808.3_Silent_p.F429F	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	429	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCAGAAACTTCGAGTCTCTCG	0.617000													16	131					0	0	1	0	0
PRIM2	5558	broad.mit.edu	37	6	57185254	57185254	+	Splice_Site	SNP	G	G	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr6:57185254G>T	ENST00000607273.1	+	3	241		c.e3-1		PRIM2_ENST00000389488.2_Splice_Site	NM_000947.2	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTTTTTTTTAGTGTTAAAATC	0.328000													5	14					1.23904e-05	1.26433e-05	1	1	0
ZC3H4	23211	broad.mit.edu	37	19	47575123	47575123	+	Silent	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:47575123G>A	ENST00000253048.5	-	13	2095	c.2058C>T	c.(2056-2058)ccC>ccT	p.P686P	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	686	Pro-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCGGGATAGGGGGCATCATTC	0.622000													14	27					0	0	1	0	0
UBE4A	9354	broad.mit.edu	37	11	118239407	118239407	+	Silent	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr11:118239407C>T	ENST00000252108.3	+	3	314	c.183C>T	c.(181-183)ttC>ttT	p.F61F	UBE4A_ENST00000431736.2_Silent_p.F61F	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	61					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGGATGAATTCGATTACTCTG	0.433000													75	157					0	0	1	0	0
PRPS1L1	221823	broad.mit.edu	37	7	18067044	18067044	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr7:18067044G>A	ENST00000506618.2	-	1	442	c.362C>T	c.(361-363)gCg>gTg	p.A121V		NM_175886.2	NP_787082.1	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	121					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GATATGATCCGCACCTGCTAT	0.473000													43	72					0	0	1	0	0
LRRC37A5P	0	broad.mit.edu	37	9	114371493	114371493	+	RNA	SNP	C	C	T	rs12351897	by1000genomes	TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr9:114371493C>T	ENST00000374304.1	-	0	306																											CTTCTCACATCGTTGTTGGGG	0.502000													7	139					0	0	1	0	0
MXRA5	25878	broad.mit.edu	37	X	3239837	3239837	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chrX:3239837T>C	ENST00000217939.6	-	5	4043	c.3889A>G	c.(3889-3891)Aca>Gca	p.T1297A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1297						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGGTGGTTGTCATGTAATCT	0.358000													4	66					0	0	1	0	0
KIAA1211	57482	broad.mit.edu	37	4	57182125	57182125	+	Silent	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr4:57182125G>A	ENST00000504228.1	+	6	2562	c.2457G>A	c.(2455-2457)tcG>tcA	p.S819S	KIAA1211_ENST00000541073.1_Silent_p.S812S|KIAA1211_ENST00000264229.6_Silent_p.S819S			Q6ZU35	K1211_HUMAN	KIAA1211	819										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TCACGACCTCGTCGGACAGCG	0.537000													23	62					0	0	1	0	0
OR3A2	4995	broad.mit.edu	37	17	3181606	3181606	+	Silent	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:3181606G>A	ENST00000408891.2	-	1	662	c.624C>T	c.(622-624)ctC>ctT	p.L208L		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	208					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						CCACAGCAAAGAGCAGCAGCT	0.537000													38	59					0	0	1	0	0
EIF3L	51386	broad.mit.edu	37	22	38270462	38270462	+	Silent	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:38270462C>T	ENST00000412331.2	+	9	1419	c.837C>T	c.(835-837)cgC>cgT	p.R279R	EIF3L_ENST00000381683.6_Silent_p.R231R|EIF3L_ENST00000406934.1_Silent_p.R181R	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	279						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGCTTCTCCGCCTGCACTCCC	0.552000													34	37					0	0	1	0	0
TBC1D4	9882	broad.mit.edu	37	13	76055900	76055900	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr13:76055900C>T	ENST00000377636.3	-	1	350	c.4G>A	c.(4-6)Gag>Aag	p.E2K	TBC1D4_ENST00000377625.2_Missense_Mutation_p.E2K|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.E2K	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	2						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTGGGCGGCTCCATAACTCTC	0.731000													5	5					0	0	1	0	0
RASL10A	10633	broad.mit.edu	37	22	29709887	29709887	+	Silent	SNP	G	G	A			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:29709887G>A	ENST00000401450.3	-	2	754	c.309C>T	c.(307-309)taC>taT	p.Y103Y	RASL10A_ENST00000216101.6_Silent_p.Y103Y|RASL10A_ENST00000474590.1_5'UTR			Q92737	RSLAA_HUMAN	RAS-like, family 10, member A	103	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)	1						GGGCCTTCACGTAGTCGAAAC	0.652000													4	34					0	0	1	0	0
TPR	7175	broad.mit.edu	37	1	186302356	186302358	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr1:186302356_186302358delGAG	ENST00000367478.3	-	37	5647_5649	c.5351_5353delCTC	c.(5350-5355)cag>c	p.PQ1784del		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein	1784					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GGCTCAATCTGAGGATGACTCTG	0.443			T	NTRK1	papillary thyroid								24	89	---	---	---	---					
CGREF1	10669	broad.mit.edu	37	2	27324256	27324257	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr2:27324256_27324257delCT	ENST00000402394.1	-	6	1110_1111	c.842_843delAG	c.(841-843)gfs	p.E281fs	CGREF1_ENST00000405600.1_Frame_Shift_Del_p.E281fs|CGREF1_ENST00000404694.3_Frame_Shift_Del_p.E403fs|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000312734.4_Frame_Shift_Del_p.E281fs|CGREF1_ENST00000260595.5_Frame_Shift_Del_p.E264fs|CGREF1_ENST00000452318.2_Intron	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	264					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCCTGGCCTCTGCCTGGCC	0.614													34	423	---	---	---	---					
NEB	4703	broad.mit.edu	37	2	152544001	152544004	+	Frame_Shift_Del	DEL	CAAT	CAAT	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr2:152544001_152544004delCAAT	ENST00000397345.3	-	27	2768_2771	c.2566_2569delATTG	c.(2566-2571)gafs	p.IG856fs	NEB_ENST00000604864.1_Frame_Shift_Del_p.IG856fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.IG856fs|NEB_ENST00000427231.2_Frame_Shift_Del_p.IG856fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.IG856fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.IG856fs	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN	nebulin	856					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGAGGGCTCCAATCATTTTCCCT	0.451													15	133	---	---	---	---					
IBSP	3381	broad.mit.edu	37	4	88732559	88732561	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr4:88732559_88732561delGAA	ENST00000226284.5	+	7	518_520	c.451_453delGAA	c.(451-453)del	p.E158del		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	158	Asp/Glu-rich (acidic).|Poly-Glu.				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GGAAAGTGATgaagaagaagagg	0.394													8	23	---	---	---	---					
CPEB4	80315	broad.mit.edu	37	5	173317571	173317574	+	Frame_Shift_Del	DEL	AACA	AACA	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr5:173317571_173317574delAACA	ENST00000265085.5	+	1	2289_2292	c.835_838delAACA	c.(835-840)aafs	p.NK279fs	CPEB4_ENST00000520867.1_Frame_Shift_Del_p.NK279fs|CPEB4_ENST00000519835.1_Frame_Shift_Del_p.NK279fs|CPEB4_ENST00000334035.5_Frame_Shift_Del_p.NK279fs	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	279							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAATAATCTTAACAAACCCCCCTC	0.574													45	323	---	---	---	---					
SNX16	64089	broad.mit.edu	37	8	82752142	82752144	+	In_Frame_Del	DEL	CTT	CTT	-	rs142163451		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr8:82752142_82752144delCTT	ENST00000396330.2	-	3	584_586	c.78_80delAAG	c.(76-81)agt>ag	p.RS26del	SNX16_ENST00000345957.4_In_Frame_Del_p.RS26del|SNX16_ENST00000353788.4_In_Frame_Del_p.RS26del	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN	sorting nexin 16	26					cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						AAAAGAAGAACTTCTTTGATTTC	0.389													40	153	---	---	---	---					
MAP3K12	7786	broad.mit.edu	37	12	53876125	53876127	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr12:53876125_53876127delTCC	ENST00000267079.2	-	13	2391_2393	c.2166_2168delGGA	c.(2164-2169)gaa>ga	p.EE722del	MAP3K12_ENST00000547035.1_In_Frame_Del_p.EE755del|MAP3K12_ENST00000547488.1_In_Frame_Del_p.EE755del	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	722	Glu-rich (acidic).				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TACCTCTCCTTCCTCCTCTTCCG	0.493													24	143	---	---	---	---					
P2RX4	5025	broad.mit.edu	37	12	121670817	121670819	+	In_Frame_Del	DEL	CAT	CAT	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr12:121670817_121670819delCAT	ENST00000337233.4	+	11	1370_1372	c.1062_1064delCAT	c.(1060-1065)gac>ga	p.DI354del	P2RX4_ENST00000359949.7_In_Frame_Del_p.DI370del|P2RX4_ENST00000543171.1_In_Frame_Del_p.DI253del	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	354					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCTGTGTGACATCATAGTCCTC	0.498													18	347	---	---	---	---					
SFSWAP	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr12:132281734_132281736delAGA	ENST00000261674.4	+	16	2687_2689	c.2546_2548delAGA	c.(2545-2550)gag>g	p.EK849del	SFSWAP_ENST00000541286.1_In_Frame_Del_p.EK901del|SFSWAP_ENST00000539506.1_3'UTR	NM_004592.3	NP_004583.2	Q12872	SFSWA_HUMAN	splicing factor, suppressor of white-apricot homolog (Drosophila)	849	Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(8)|ovary(1)|skin(2)	25						AGTCCCCACGAGAAGAAGAAGAA	0.606													9	187	---	---	---	---					
TRPV3	162514	broad.mit.edu	37	17	3458099	3458100	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:3458099_3458100delCT	ENST00000301365.4	-	2	176_177	c.45_46delAG	c.(43-48)agttfs	p.RV15fs	TRPV3_ENST00000576742.1_Frame_Shift_Del_p.RV15fs|TRPV3_ENST00000572519.1_Frame_Shift_Del_p.RV15fs			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	15						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GGGGCAGCAACTCTCTTGCCCA	0.619													7	47	---	---	---	---					
HAP1	9001	broad.mit.edu	37	17	39881249	39881249	+	Frame_Shift_Del	DEL	C	C	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:39881249delC	ENST00000393939.2	-	10	1498	c.1489delG	c.(1489-1491)ctfs	p.A497fs	HAP1_ENST00000310778.5_Frame_Shift_Del_p.A574fs|HAP1_ENST00000347901.4_Frame_Shift_Del_p.A522fs|HAP1_ENST00000341193.5_Frame_Shift_Del_p.A505fs|JUP_ENST00000540235.1_Intron			P54257	HAP1_HUMAN	huntingtin-associated protein 1	557	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCTTCCTCAGCCGGCACCTTC	0.627													84	328	---	---	---	---					
SMARCA4	6597	broad.mit.edu	37	19	11106926	11106928	+	In_Frame_Del	DEL	AGA	AGA	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:11106926_11106928delAGA	ENST00000358026.2	+	10	1915_1917	c.1631_1633delAGA	c.(1630-1635)cag>c	p.QK544del	SMARCA4_ENST00000429416.3_In_Frame_Del_p.QK544del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.QK544del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.QK544del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.QK544del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.QK544del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.QK544del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.QK544del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.QK544del	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	544					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)				CTCATCGACCAGAAGAAGGACAA	0.576			"""F, N, Mis"""		NSCLC								52	164	---	---	---	---					
KCNG1	3755	broad.mit.edu	37	20	49626525	49626527	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr20:49626525_49626527delGAA	ENST00000371571.4	-	2	634_636	c.349_351delTTC	c.(349-351)del	p.F117del	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_In_Frame_Del_p.F117del	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	117						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGTTGCGGTCGAAGAAGAACTCG	0.645													13	50	---	---	---	---					
AC008103.5	0	broad.mit.edu	37	22	18842473	18842473	+	RNA	DEL	G	G	-	rs66618606		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:18842473delG	ENST00000412938.1	+	0	2208																											AGCTGCTGGTGGGGAGGTCTT	0.647													6	7	---	---	---	---					
SMARCB1	6598	broad.mit.edu	37	22	24175836	24175837	+	Frame_Shift_Del	DEL	CT	CT	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:24175836_24175837delCT	ENST00000344921.6	+	8	1298_1299	c.1091_1092delCT	c.(1090-1092)afs	p.T364fs	SMARCB1_ENST00000407422.3_Frame_Shift_Del_p.T346fs|SMARCB1_ENST00000407082.3_Frame_Shift_Del_p.T309fs|SMARCB1_ENST00000263121.7_Frame_Shift_Del_p.T355fs			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	355					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CTGCTGGAGACTCTGACAGACG	0.634			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							11	123	---	---	---	---					
NXF4	0	broad.mit.edu	37	X	101818628	101818630	+	RNA	DEL	ATT	ATT	-			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chrX:101818628_101818630delATT	ENST00000360035.2	+	0	1098_1100					NR_002216.1															endometrium(2)|lung(8)	10						CCTGCCTGACATTATAGAGAAGG	0.458													13	16	---	---	---	---					
