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
TAS2R16	50833	broad.mit.edu	37	7	122635637	122635637	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr7:122635637A>G	uc003vkl.1	-	0	118	c.52T>C	c.(52-54)Tcc>Ccc	p.S18P		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	18					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding	p.E17Q(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATTGTCAAGGACTCAAGCACA	0.453000													15	48					0	0	0.028581	0	0
NINL	22981	broad.mit.edu	37	20	25436318	25436318	+	Silent	SNP	C	C	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr20:25436318C>T	uc002wux.1	-	22	4022	c.3948G>A	c.(3946-3948)ctG>ctA	p.L1316L	NINL_uc010gdn.1_Silent_p.L967L|NINL_uc002wuw.1_Silent_p.L107L	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	1316					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding	p.L1316L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCTGCTCCTTCAGCTTATCCA	0.488000													56	142					0	0	0.048971	0	0
GK2	2712	broad.mit.edu	37	4	80327819	80327819	+	Silent	SNP	A	A	G			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr4:80327819A>G	uc003hlu.3	-	0	1554	c.1536T>C	c.(1534-1536)ggT>ggC	p.G512G		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	512					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TGGTAACCCAACCCATTGACT	0.438000													27	77					0	0	0.030593	0	0
TP53	7157	broad.mit.edu	37	17	7577138	7577138	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr17:7577138C>G	uc002gim.2	-	7	994	c.800G>C	c.(799-801)cGg>cCg	p.R267P	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R267P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R135P|TP53_uc010cnf.1_Missense_Mutation_p.R135P|TP53_uc002gii.1_Missense_Mutation_p.R135P|TP53_uc010cni.1_Missense_Mutation_p.R267P|TP53_uc010cnh.1_Missense_Mutation_p.R267P|TP53_uc002gij.2_Missense_Mutation_p.R267P|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|Ras protein signal transduction|activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.G266E(49)|p.G266R(45)|p.G266V(36)|p.R267P(32)|p.R267W(23)|p.R267Q(20)|p.G266*(13)|p.R267L(10)|p.0?(8)|p.G266fs*79(5)|p.R267R(5)|p.G262_F270delGNLLGRNSF(4)|p.G262_S269delGNLLGRNS(4)|p.G266_E271delGRNSFE(4)|p.N268fs*77(3)|p.?(3)|p.G266_N268delGRN(2)|p.G266A(2)|p.G266G(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.G266fs*4(2)|p.G266T(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.G262fs*2(1)|p.R267G(1)|p.R267fs*78(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)		AAAGCTGTTCCGTCCCAGTAG	0.527000		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)			22	6					0	0	0.069288	0	0
TTN	7273	broad.mit.edu	37	2	179569078	179569078	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:179569078T>C	uc021vsy.1	-	102	26512	c.26287A>G	c.(26287-26289)Acc>Gcc	p.T8763A	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T5424A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9690	Ig-like 70.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGTCATGGTGCAAGTCTGG	0.423000													21	136					0	0	0.055883	0	0
PAPPA	5069	broad.mit.edu	37	9	119139910	119139910	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr9:119139910G>C	uc004bjn.3	+	19	5042	c.4661G>C	c.(4660-4662)tGt>tCt	p.C1554S	PAPPA_uc011lxq.2_Missense_Mutation_p.C929S	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	1554	Sushi 5.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGATTCACTGTGTCAAAGGC	0.473000													16	28					0	0	0.024245	0	0
INPP5A	3632	broad.mit.edu	37	10	134521843	134521843	+	Silent	SNP	C	C	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr10:134521843C>A	uc001llp.3	+	6	749	c.501C>A	c.(499-501)atC>atA	p.I167I	INPP5A_uc001llo.1_Silent_p.I167I|INPP5A_uc001llq.3_Silent_p.I119I	NM_005539	NP_005530	Q14642	I5P1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA.	167				PQDYFPECKWSRKGFIRTRWC -> RRLLPRVQMVKKRLHP DEVV (in Ref. 5; CAA83500).	cell communication	membrane	PH domain binding|inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AAGGCTTCATCCGGACGAGGT	0.463000													6	26					0.00307968	0.003173	0.038147	1	0
SSB	6741	broad.mit.edu	37	2	170667377	170667377	+	Silent	SNP	C	C	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:170667377C>T	uc002ufk.3	+	9	994	c.820C>T	c.(820-822)Cta>Tta	p.L274L	SSB_uc002ufm.3_Silent_p.L274L	NM_003142	NP_003133	P05455	LA_HUMAN	Homo sapiens Sjogren syndrome antigen B (autoantigen La) (SSB), mRNA.	274					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGGGATAATTCTATTTAAAGA	0.353000													19	43					0	0	0.062417	0	0
TNN	63923	broad.mit.edu	37	1	175048764	175048764	+	Silent	SNP	C	C	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr1:175048764C>T	uc001gkl.1	+	2	818	c.705C>T	c.(703-705)ggC>ggT	p.G235G	TNN_uc010pmx.1_Silent_p.G235G	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	235	EGF-like 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCTGTCCCGGCGACTGCAGCG	0.667000													11	9					0	0	0.080935	0	0
NINL	22981	broad.mit.edu	37	20	25436402	25436402	+	Silent	SNP	C	C	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr20:25436402C>T	uc002wux.1	-	22	3938	c.3864G>A	c.(3862-3864)ctG>ctA	p.L1288L	NINL_uc010gdn.1_Silent_p.L939L|NINL_uc002wuw.1_Silent_p.L79L	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	1288					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTGTGGCTTTCAGCTGTTTCT	0.537000													62	199					0	0	0.048971	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								22	39					0	0	0.069288	0	0
OR2J3	442186	broad.mit.edu	37	6	29080500	29080500	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr6:29080500C>T	uc011dll.2	+	0	833	c.833C>T	c.(832-834)gCc>gTc	p.A278V		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						AAGTTCATTGCCCTCTTTTAT	0.448000													4	55					0	0	0.009096	0	0
SOHLH1	402381	broad.mit.edu	37	9	138588581	138588581	+	Missense_Mutation	SNP	C	C	T	rs138843804		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr9:138588581C>T	uc010nbe.3	-	4	599	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	SOHLH1_uc004cgl.3_Missense_Mutation_p.V180M	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN	Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.	180					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		ATGTGCGGCACGGGCTCTGGG	0.632000													4	61					0	0	0.029380	0	0
TTN	7273	broad.mit.edu	37	2	179641669	179641669	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:179641669G>T	uc021vsy.1	-	27	5147	c.4922C>A	c.(4921-4923)aCa>aAa	p.T1641K	TTN_uc021vsz.1_Missense_Mutation_p.T1595K|TTN_uc021vta.1_Missense_Mutation_p.T1595K|TTN_uc021vtb.1_Missense_Mutation_p.T1595K|TTN_uc002unb.2_Missense_Mutation_p.T1641K|AK123298_uc002unc.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1641	Ig-like 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGCATCTTGTAGTGTCTCT	0.463000													8	56					0.000157383	0.000172614	0.038147	1	0
NOTCH4	4855	broad.mit.edu	37	6	32188188	32188188	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr6:32188188G>A	uc003obb.3	-	5	1292	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C	NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc003obc.3_Missense_Mutation_p.R385C	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	385	EGF-like 9; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi lumen|cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATACCTGTGCGTCCAGGTGGG	0.592000													7	131					0	0	0.029380	0	0
ACSL6	23305	broad.mit.edu	37	5	131329917	131329917	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr5:131329917A>G	uc003kvx.2	-	1	186	c.77T>C	c.(76-78)aTg>aCg	p.M26T	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Missense_Mutation_p.M26T|ACSL6_uc003kvy.2_Missense_Mutation_p.M26T|ACSL6_uc003kvz.2_Missense_Mutation_p.M1T|ACSL6_uc021ydh.1_Missense_Mutation_p.M1T|ACSL6_uc010jdo.2_Missense_Mutation_p.M1T|ACSL6_uc003kwa.2_Missense_Mutation_p.M12T|ACSL6_uc003kwc.1_Missense_Mutation_p.M1T|ACSL6_uc003kwd.1_Missense_Mutation_p.M1T|ACSL6_uc010jdn.2_Missense_Mutation_p.M1T	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	1					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGTGTCTGCATCTTCTCCAG	0.547000													8	12					0	0	0.058154	0	0
SIK3	23387	broad.mit.edu	37	11	116719848	116719848	+	Silent	SNP	G	G	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr11:116719848G>A	uc001ppy.3	-	20	3525	c.3489C>T	c.(3487-3489)agC>agT	p.S1163S	SIK3_uc001ppz.3_Silent_p.S1002S|SIK3_uc001pqa.3_Silent_p.S1103S|SIK3_uc001ppw.3_Silent_p.S520S|SIK3_uc001ppx.3_Silent_p.S541S	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	1163						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.S1162*(2)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						AAGCATCGTCGCTGTTCTGGA	0.597000													7	63					0	0	0.038147	0	0
GABRB1	2560	broad.mit.edu	37	4	47427857	47427857	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr4:47427857G>A	uc003gxh.3	+	8	1621	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H	GABRB1_uc011bze.2_Missense_Mutation_p.R346H	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	416					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	GABA-A receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCCTACGGGCGCGCCCTGGAC	0.642000													16	48					0	0	0.033300	0	0
ZPBP	11055	broad.mit.edu	37	7	49977166	49977166	+	Silent	SNP	T	T	C	rs138428432		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr7:49977166T>C	uc003tou.3	-	7	1084	c.1014A>G	c.(1012-1014)caA>caG	p.Q338Q	ZPBP_uc010kyw.3_Silent_p.Q337Q	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	338					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TGCTATTGCATTGAAGGCAAT	0.343000													36	74					0	0	0.092188	0	0
HYDIN	54768	broad.mit.edu	37	GL000192.1	197237	197237	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chrGL000192.1:197237A>T	uc010yii.1	-	7	1266	c.1045T>A	c.(1045-1047)Tca>Aca	p.S349T	HYDIN_uc010yih.1_Non-coding_Transcript			Q4G0P3	HYDIN_HUMAN	Homo sapiens mRNA for KIAA1864 protein, partial cds.	2047										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGCCTACCTGACAAGGGTGTC	0.542000													4	67					0	0	0.009096	0	0
LOC283788	283788	broad.mit.edu	37	GL000219.1	83216	83216	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chrGL000219.1:83216G>C	uc022brb.1	-	3	451	c.138C>G	c.(136-138)atC>atG	p.I46M	LOC283788_uc011mfq.2_Non-coding_Transcript					Homo sapiens FSHD region gene 1 pseudogene (LOC283788), non-coding RNA.																		TCGTTACCTTGATCATTTCTT	0.358000													3	41					0	0	0.004672	0	0
SMPD3	55512	broad.mit.edu	37	16	68398674	68398674	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr16:68398674T>C	uc002ewa.3	-	4	1957	c.1535A>G	c.(1534-1536)aAc>aGc	p.N512S	SMPD3_uc010cfe.3_Missense_Mutation_p.N512S|SMPD3_uc010vlh.2_Missense_Mutation_p.N512S	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II) (SMPD3), mRNA.	512		Important for substrate recognition (By similarity).			cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GTTATCAAAGTTGAAATCTCC	0.572000													6	48					0	0	0.029380	0	0
RPUSD1	113000	broad.mit.edu	37	16	837118	837118	+	Missense_Mutation	SNP	G	G	A	rs138346352		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr16:837118G>A	uc002cka.3	-	2	602	c.368C>T	c.(367-369)aCg>aTg	p.T123M	RPUSD1_uc002ckb.3_Missense_Mutation_p.T123M|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.4_5'Flank|CHTF18_uc002ckf.4_5'Flank|CHTF18_uc010brf.3_5'Flank|CHTF18_uc002ckg.4_5'Flank	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN	Homo sapiens RNA pseudouridylate synthase domain containing 1 (RPUSD1), mRNA.	123					pseudouridine synthesis		RNA binding|pseudouridine synthase activity			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				CCGGCCCTCCGTGCTGTTCCT	0.692000													5	13					0	0	0.021553	0	0
MTERFD2	130916	broad.mit.edu	37	2	242039161	242039161	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:242039161C>T	uc002wan.1	-	0	750	c.257G>A	c.(256-258)tGt>tAt	p.C86Y	MTERFD2_uc010zoj.1_Intron|MTERFD2_uc010zok.1_Missense_Mutation_p.C57Y	NM_182501	NP_872307	Q7Z6M4	MTER2_HUMAN	Homo sapiens MTERF domain containing 2 (MTERFD2), transcript variant 1, mRNA.	57										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		GGATCTAACACAAGATAACTC	0.498000													12	82					0	0	0.020292	0	0
AFF3	3899	broad.mit.edu	37	2	100218011	100218013	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:100218011_100218013delGCT	uc002taf.3	-	12	1474_1476	c.1330_1332delAGC	c.(1330-1332)agcdel	p.S444del	AFF3_uc002tag.3_In_Frame_Del_p.S419del|AFF3_uc010fiq.1_In_Frame_Del_p.S419del|AFF3_uc010yvr.1_In_Frame_Del_p.S572del|AFF3_uc002tah.1_In_Frame_Del_p.S444del	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	419	Poly-Ser.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						tgctgctgccgctgctgctgctg	0.685													3	6	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	GGCGGCGGC	-	rs67907220		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr4:147560458_147560466delGGCGGCGGC	uc003ikv.3	+	0	414_422	c.166_174delGGCGGCGGC	c.(166-174)ggcggcggcdel	p.GGG65del		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	65	Poly-Gly.				MAPKKK cascade|estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.761													7	13	---	---	---	---					
FSIP1	161835	broad.mit.edu	37	15	39910298	39910305	+	Frame_Shift_Del	DEL	CTGGAAAG	CTGGAAAG	-	rs34939408		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr15:39910298_39910305delCTGGAAAG	uc001zki.3	-	10	1548_1555	c.1330_1337delCTTTCCAG	c.(1330-1338)ctttccaggfs	p.L444fs		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	Homo sapiens fibrous sheath interacting protein 1 (FSIP1), mRNA.	444										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GATGATGGACCTGGAAAGCTGGGGGAAC	0.380													21	94	---	---	---	---					
TLR7	51284	broad.mit.edu	37	X	12906637	12906645	+	In_Frame_Del	DEL	CGGAAAAGG	CGGAAAAGG	-			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chrX:12906637_12906645delCGGAAAAGG	uc004cvc.3	+	2	3149_3157	c.3010_3018delCGGAAAAGG	c.(3010-3018)cggaaaaggdel	p.RKR1004del		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	1004	TIR.				I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CCTCCAGCTCCGGAAAAGGCTCTGTGGGA	0.474													41	68	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76855981	76855982	+	Frame_Shift_Ins	INS	-	-	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chrX:76855981_76855982insA	uc004ecp.4	-	22	5850_5851	c.5618_5619insT	c.(5617-5619)ttcfs	p.F1873fs	ATRX_uc004ecq.4_Frame_Shift_Ins_p.F1835fs|ATRX_uc004eco.4_Frame_Shift_Ins_p.F1658fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1873					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|DNA binding|DNA helicase activity|chromo shadow domain binding|zinc ion binding	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145					Phosphatidylserine(DB00144)	GAAAATCTTGGAAAAGCTTTGC	0.361			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						88	76	---	---	---	---					
