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_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
DOCK7	85440	broad.mit.edu	37	1	62959981	62959981	+	Missense_Mutation	SNP	G	A	A	rs76581585		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr1:62959981G>A	uc001daq.2	-	40	5189	c.5155C>T	c.(5155-5157)CGG>TGG	p.R1719W	DOCK7_uc001dan.2_Missense_Mutation_p.R1580W|DOCK7_uc001dao.2_Missense_Mutation_p.R1580W|DOCK7_uc001dap.2_Missense_Mutation_p.R1697W|DOCK7_uc001dam.2_Missense_Mutation_p.R899W|DOCK7_uc010oov.1_Missense_Mutation_p.R458W	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1728	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			ovary(2)	2						AGATATTTCCGGTCCTCCAGC	0.428000													3	46					0	0	0.004672	0	0
TNN	63923	broad.mit.edu	37	1	175048764	175048764	+	Silent	SNP	C	T	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr1:175048764C>T	uc001gkl.1	+	3	818	c.705C>T	c.(703-705)GGC>GGT	p.G235G	TNN_uc010pmx.1_Silent_p.G235G	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	tenascin N precursor	235	EGF-like 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				large_intestine(5)|ovary(3)|central_nervous_system(1)	9		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCTGTCCCGGCGACTGCAGCG	0.667000													11	9					0	0	0.080935	0	0
ZNF248	57209	broad.mit.edu	37	10	38121476	38121476	+	Silent	SNP	C	T	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr10:38121476C>T	uc001izd.1	-	6	1306	c.807G>A	c.(805-807)CCG>CCA	p.P269P	ZNF248_uc009xmc.2_Intron|ZNF248_uc001izb.2_Intron|ZNF248_uc001izc.2_Intron|ZNF248_uc010qeu.1_Silent_p.P269P	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	zinc finger protein 248	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(1)	1						TGCATCCATACGGCTCCATTT	0.368000													4	102					0	0	0.009096	0	0
LOC642826	642826	broad.mit.edu	37	10	47207813	47207813	+	RNA	SNP	T	C	C			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr10:47207813T>C	uc001jei.2	-	12		c.1586A>G			uc009xnf.2_Missense_Mutation_p.H132R					Homo sapiens cDNA, FLJ99065.												0						TTTACTTACATGGTTTGTACA	0.294000													6	30					0	0	0.029380	0	0
INPP5A	3632	broad.mit.edu	37	10	134521843	134521843	+	Silent	SNP	C	A	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr10:134521843C>A	uc001llp.2	+	7	749	c.501C>A	c.(499-501)ATC>ATA	p.I167I	INPP5A_uc001llo.1_Silent_p.I167I|INPP5A_uc001llq.2_Silent_p.I119I	NM_005539	NP_005530	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase A	167				PQDYFPECKWSRKGFIRTRWC -> RRLLPRVQMVKKRLHP DEVV (in Ref. 5; CAA83500).	cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			skin(1)	1		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	0.00315479	0.038147	1	0
SIK3	23387	broad.mit.edu	37	11	116719848	116719848	+	Silent	SNP	G	A	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr11:116719848G>A	uc001ppy.2	-	21	3525	c.3489C>T	c.(3487-3489)AGC>AGT	p.S1163S	SIK3_uc001ppz.2_Silent_p.S1002S|SIK3_uc001pqa.2_Silent_p.S1103S|SIK3_uc001ppw.2_Silent_p.S520S|SIK3_uc001ppx.2_Silent_p.S541S	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	serine/threonine-protein kinase QSK	1163						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			ovary(4)|breast(3)|stomach(2)|lung(1)|skin(1)|kidney(1)	12						AAGCATCGTCGCTGTTCTGGA	0.597000													7	63					0	0	0.038147	0	0
LOC284232	284232	broad.mit.edu	37	13	19414267	19414267	+	RNA	SNP	T	C	C	rs74350188		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr13:19414267T>C	uc010tcj.1	-	1		c.31843A>G				NR_027995				Homo sapiens ankyrin repeat domain 20 family, member A2 pseudogene (LOC284232), non-coding RNA.												0						TAACATTTGTTTTTTCTTCAT	0.279000													3	30					0	0	0.004672	0	0
WASH3P	374666	broad.mit.edu	37	15	102516350	102516350	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr15:102516350G>A	uc002cdi.2	+	11	2096	c.676G>A	c.(676-678)GGA>AGA	p.G226R	WASH3P_uc002cdl.2_Missense_Mutation_p.G226R|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G226R|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA	NR_003659				RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2;												0						CTCTGGGAAAGGACCTGGGGC	0.622000													3	8					0	0	0.014758	0	0
RPUSD1	113000	broad.mit.edu	37	16	837118	837118	+	Missense_Mutation	SNP	G	A	A	rs138346352		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr16:837118G>A	uc002cka.2	-	3	602	c.368C>T	c.(367-369)ACG>ATG	p.T123M	RPUSD1_uc002ckb.2_Missense_Mutation_p.T123M|RPUSD1_uc002ckc.2_Translation_Start_Site|RPUSD1_uc002ckd.2_Intron|CHTF18_uc010uus.1_5'Flank|CHTF18_uc010bre.1_5'Flank|CHTF18_uc002cke.3_5'Flank|CHTF18_uc002ckf.3_5'Flank|CHTF18_uc010brf.2_5'Flank|CHTF18_uc002ckg.3_5'Flank	NM_058192	NP_478072	Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing	123					pseudouridine synthesis		pseudouridine synthase activity|RNA binding				0		Hepatocellular(780;0.00335)				CCGGCCCTCCGTGCTGTTCCT	0.692000													5	13					0	0	0.021553	0	0
SMPD3	55512	broad.mit.edu	37	16	68398674	68398674	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr16:68398674T>C	uc002ewa.2	-	5	1957	c.1535A>G	c.(1534-1536)AAC>AGC	p.N512S	SMPD3_uc010cfe.2_Missense_Mutation_p.N512S|SMPD3_uc010vlh.1_Missense_Mutation_p.N512S	NM_018667	NP_061137	Q9NY59	NSMA2_HUMAN	neutral sphingomyelin phosphodiesterase 3	512	Lumenal (Potential).	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			skin(1)	1		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
TP53	7157	broad.mit.edu	37	17	7577138	7577138	+	Missense_Mutation	SNP	C	G	G			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr17:7577138C>G	uc002gim.2	-	8	994	c.800G>C	c.(799-801)CGG>CCG	p.R267P	TP53_uc002gig.1_Intron|TP53_uc002gih.2_Missense_Mutation_p.R267P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R135P|TP53_uc010cng.1_Missense_Mutation_p.R135P|TP53_uc002gii.1_Missense_Mutation_p.R135P|TP53_uc010cnh.1_Missense_Mutation_p.R267P|TP53_uc010cni.1_Missense_Mutation_p.R267P|TP53_uc002gij.2_Missense_Mutation_p.R267P	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	267	|Interaction with E4F1.|Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		R -> H (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and 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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R267W(20)|p.R267P(13)|p.0?(7)|p.R267Q(7)|p.R267R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.R267fs*78(1)|p.N268fs*77(1)|p.L265_K305del41(1)|p.R267G(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.R267L(1)|p.G266_N268delGRN(1)|p.G262fs*2(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		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	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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
SMCR8	140775	broad.mit.edu	37	17	18220403	18220403	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr17:18220403G>A	uc002gsy.3	+	1	1810	c.1300G>A	c.(1300-1302)GGA>AGA	p.G434R		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region,	434										central_nervous_system(1)	1						GCAGGAACTGGGAGATGAGGA	0.448000													4	86					0	0	0.009096	0	0
SSB	6741	broad.mit.edu	37	2	170667377	170667377	+	Silent	SNP	C	T	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:170667377C>T	uc002ufk.2	+	10	927	c.820C>T	c.(820-822)CTA>TTA	p.L274L	SSB_uc002ufl.2_Silent_p.L274L|SSB_uc002ufm.2_Silent_p.L274L	NM_003142	NP_003133	P05455	LA_HUMAN	autoantigen La	274					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			skin(3)|pancreas(1)	4						GGGGATAATTCTATTTAAAGA	0.353000													19	43					0	0	0.062417	0	0
TTN	7273	broad.mit.edu	37	2	179569078	179569078	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:179569078T>C	uc010zfg.1	-	103	26511	c.26287A>G	c.(26287-26289)ACC>GCC	p.T8763A	TTN_uc010zfh.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T5424A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	9690							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			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
TTN	7273	broad.mit.edu	37	2	179641669	179641669	+	Missense_Mutation	SNP	G	T	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:179641669G>T	uc010zfg.1	-	28	5146	c.4922C>A	c.(4921-4923)ACA>AAA	p.T1641K	TTN_uc010zfh.1_Missense_Mutation_p.T1595K|TTN_uc010zfi.1_Missense_Mutation_p.T1595K|TTN_uc010zfj.1_Missense_Mutation_p.T1595K|TTN_uc002unb.2_Missense_Mutation_p.T1641K|uc002unc.1_RNA	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	1641							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGCATCTTGTAGTGTCTCT	0.463000													8	56					0.000157383	0.00016949	0.038147	1	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|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).|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 -> 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).		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(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				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
MTERFD2	130916	broad.mit.edu	37	2	242039161	242039161	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:242039161C>T	uc002wan.1	-	1	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	MTERF domain containing 2	57										ovary(1)	1		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
NINL	22981	broad.mit.edu	37	20	25436318	25436318	+	Silent	SNP	C	T	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr20:25436318C>T	uc002wux.1	-	23	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	ninein-like	1316	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						CCTGCTCCTTCAGCTTATCCA	0.488000													56	142					0	0	0.048971	0	0
NINL	22981	broad.mit.edu	37	20	25436402	25436402	+	Silent	SNP	C	T	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr20:25436402C>T	uc002wux.1	-	23	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	ninein-like	1288	Potential.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			ovary(2)|pancreas(1)|central_nervous_system(1)|skin(1)	5						CTGTGGCTTTCAGCTGTTTCT	0.343000													62	199					0	0	0.048971	0	0
GABRB1	2560	broad.mit.edu	37	4	47427857	47427857	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr4:47427857G>A	uc003gxh.2	+	9	1621	c.1247G>A	c.(1246-1248)CGC>CAC	p.R416H	GABRB1_uc011bze.1_Missense_Mutation_p.R346H	NM_000812	NP_000803	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta	416	Cytoplasmic (Probable).				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			ovary(2)	2					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCCTACGGGCGCGCCCTGGAC	0.642000													16	48					0	0	0.033300	0	0
GK2	2712	broad.mit.edu	37	4	80327819	80327819	+	Silent	SNP	A	G	G			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr4:80327819A>G	uc003hlu.2	-	1	1554	c.1536T>C	c.(1534-1536)GGT>GGC	p.G512G		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	glycerol kinase 2	512					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			ovary(2)|skin(2)	4						TGGTAACCCAACCCATTGACT	0.438000													27	77					0	0	0.030593	0	0
ACSL6	23305	broad.mit.edu	37	5	131329917	131329917	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr5:131329917A>G	uc010jdo.1	-	2	85	c.2T>C	c.(1-3)ATG>ACG	p.M1T	ACSL6_uc003kvv.1_RNA|ACSL6_uc003kvx.1_Missense_Mutation_p.M26T|ACSL6_uc003kvy.1_Missense_Mutation_p.M26T|ACSL6_uc003kwb.2_Missense_Mutation_p.M26T|ACSL6_uc003kvz.1_Missense_Mutation_p.M1T|ACSL6_uc003kwa.1_Missense_Mutation_p.M12T|ACSL6_uc003kwc.1_Missense_Mutation_p.M1T|ACSL6_uc003kwd.1_Missense_Mutation_p.M1T|ACSL6_uc010jdn.1_Missense_Mutation_p.M1T	NM_015256	NP_056071	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	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			upper_aerodigestive_tract(1)|ovary(1)|skin(1)	3		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
OR2J3	442186	broad.mit.edu	37	6	29080500	29080500	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr6:29080500C>T	uc011dll.1	+	1	833	c.833C>T	c.(832-834)GCC>GTC	p.A278V		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J,	278	Helical; Name=7; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity				0						AAGTTCATTGCCCTCTTTTAT	0.448000													4	55					0	0	0.009096	0	0
NOTCH4	4855	broad.mit.edu	37	6	32188188	32188188	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr6:32188188G>A	uc003obb.2	-	6	1292	c.1153C>T	c.(1153-1155)CGC>TGC	p.R385C	NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA|NOTCH4_uc003obc.2_Missense_Mutation_p.R385C	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	385	EGF-like 9; calcium-binding (Potential).|Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						ATACCTGTGCGTCCAGGTGGG	0.592000													7	131					0	0	0.029380	0	0
ZPBP	11055	broad.mit.edu	37	7	49977166	49977166	+	Silent	SNP	T	C	C	rs138428432		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr7:49977166T>C	uc003tou.2	-	8	1084	c.1014A>G	c.(1012-1014)CAA>CAG	p.Q338Q	ZPBP_uc011kci.1_Silent_p.Q264Q|ZPBP_uc010kyw.2_Silent_p.Q337Q	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein isoform 1	338					binding of sperm to zona pellucida	extracellular region					0	Glioma(55;0.08)|all_neural(89;0.245)					TGCTATTGCATTGAAGGCAAT	0.328000													36	74					0	0	0.092188	0	0
TAS2R16	50833	broad.mit.edu	37	7	122635637	122635637	+	Missense_Mutation	SNP	A	G	G			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr7:122635637A>G	uc003vkl.1	-	1	118	c.52T>C	c.(52-54)TCC>CCC	p.S18P		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	taste receptor T2R16	18	Helical; Name=1; (Potential).				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			ovary(1)|skin(1)	2						ATTGTCAAGGACTCAAGCACA	0.453000													15	48					0	0	0.028581	0	0
PAPPA	5069	broad.mit.edu	37	9	119139910	119139910	+	Missense_Mutation	SNP	G	C	C			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr9:119139910G>C	uc004bjn.2	+	20	5042	c.4661G>C	c.(4660-4662)TGT>TCT	p.C1554S	PAPPA_uc011lxq.1_Missense_Mutation_p.C929S	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A	1554	Sushi 5.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			ovary(4)|skin(4)|pancreas(1)	9						CTGATTCACTGTGTCAAAGGC	0.473000													16	28					0	0	0.024245	0	0
SOHLH1	402381	broad.mit.edu	37	9	138588581	138588581	+	Missense_Mutation	SNP	C	T	T	rs138843804		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr9:138588581C>T	uc004cgl.2	-	5	599	c.538G>A	c.(538-540)GTG>ATG	p.V180M	SOHLH1_uc010nbe.2_Missense_Mutation_p.V180M	NM_001012415	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic	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)	2		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
TUBBP5	643224	broad.mit.edu	37	9	141070915	141070915	+	Silent	SNP	C	T	T			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr9:141070915C>T	uc004com.2	+	4	579	c.318C>T	c.(316-318)ACC>ACT	p.T106T	TUBBP5_uc010ncq.2_3'UTR					RecName: Full=Putative tubulin beta-4q chain;												0						TGTCAGACACCGTGGTGGAGC	0.522000													5	59					0	0	0.058154	0	0
GLRA4	441509	broad.mit.edu	37	X	102962436	102962436	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chrX:102962436C>A	uc011mse.1	-	9	1511	c.1090G>T	c.(1090-1092)GAT>TAT	p.D364Y		NM_001024452	NP_001019623	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4 precursor	364	Extracellular (Potential).					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity				0						TGGATGATATCTTCCTCCTGG	0.463000													4	40					3.59834e-05	3.97711e-05	0.021553	1	0
FSIP1	161835	broad.mit.edu	37	15	39910298	39910305	+	Frame_Shift_Del	DEL	CTGGAAAG	-	-	rs34939408		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr15:39910298_39910305delCTGGAAAG	uc001zki.2	-	11	1548_1555	c.1330_1337delCTTTCCAG	c.(1330-1338)CTTTCCAGGfs	p.L444fs		NM_152597	NP_689810	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	444_446										ovary(2)|skin(1)	3		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	---	---	---	---					
AFF3	3899	broad.mit.edu	37	2	100218011	100218013	+	In_Frame_Del	DEL	GCT	-	-			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:100218011_100218013delGCT	uc002tag.2	-	13	1491_1493	c.1255_1257delAGC	c.(1255-1257)AGCdel	p.S419del	AFF3_uc002taf.2_In_Frame_Del_p.S444del|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_002285	NP_002276	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3 isoform 1	419	Poly-Ser.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			ovary(2)|pancreas(1)|lung(1)|kidney(1)|skin(1)	6						tgctgctgccgctgctgctgctg	0.562													3	6	---	---	---	---					
POU4F2	5458	broad.mit.edu	37	4	147560458	147560466	+	In_Frame_Del	DEL	GGCGGCGGC	-	-	rs72269802		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr4:147560458_147560466delGGCGGCGGC	uc003ikv.2	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)GGCGGCGGCdel	p.GGG65del		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Brn3b POU domain transcription factor	65_67	Poly-Gly.				estrogen receptor signaling pathway|MAPKKK cascade|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			breast(1)	1	all_hematologic(180;0.151)					CGCTggtggtggcggcggcggcggcggcg	0.397													7	14	---	---	---	---					
TLR7	51284	broad.mit.edu	37	X	12906637	12906645	+	In_Frame_Del	DEL	CGGAAAAGG	-	-			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chrX:12906637_12906645delCGGAAAAGG	uc004cvc.2	+	3	3149_3157	c.3010_3018delCGGAAAAGG	c.(3010-3018)CGGAAAAGGdel	p.RKR1004del		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	toll-like receptor 7 precursor	1004_1006	TIR.|Cytoplasmic (Potential).				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|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|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			ovary(2)|lung(2)|breast(1)	5					Imiquimod(DB00724)	CCTCCAGCTCCGGAAAAGGCTCTGTGGGA	0.474													41	68	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76855981	76855982	+	Frame_Shift_Ins	INS	-	A	A			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chrX:76855981_76855982insA	uc004ecp.3	-	23	5850_5851	c.5618_5619insT	c.(5617-5619)TTCfs	p.F1873fs	ATRX_uc004ecq.3_Frame_Shift_Ins_p.F1835fs|ATRX_uc004eco.3_Frame_Shift_Ins_p.F1658fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	1873					DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	GAAAATCTTGGAAAAGCTTTGC	0.361			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						88	76	---	---	---	---					
