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	ENST00000249284.2	-	1	117	c.52T>C	c.(52-54)Tcc>Ccc	p.S18P		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	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			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	ENST00000278886.6	-	23	4021	c.3948G>A	c.(3946-3948)ctG>ctA	p.L1316L	NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Silent_p.L967L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1316					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						CCTGCTCCTTCAGCTTATCCA	0.488000													56	142					0	0	0.048971	0	0
DOCK7	85440	broad.mit.edu	37	1	62959981	62959981	+	Missense_Mutation	SNP	G	G	A	rs76581585		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.chr1:62959981G>A	ENST00000251157.5	-	40	5188	c.5155C>T	c.(5155-5157)Cgg>Tgg	p.R1719W	DOCK7_ENST00000340370.5_Missense_Mutation_p.R1697W	NM_001271999.1	NP_001258928.1	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			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGATATTTCCGGTCCTCCAGC	0.428000													3	46					0	0	0.004672	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	ENST00000358842.3	-	1	1553	c.1536T>C	c.(1534-1536)ggT>ggC	p.G512G		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	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	ENST00000420246.2	-	8	932	c.800G>C	c.(799-801)cGg>cCg	p.R267P	TP53_ENST00000359597.4_Missense_Mutation_p.R267P|TP53_ENST00000455263.2_Missense_Mutation_p.R267P|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R267P|TP53_ENST00000445888.2_Missense_Mutation_p.R267P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	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).		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.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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	ENST00000589042.1	-	106	30243	c.30019A>G	c.(30019-30021)Acc>Gcc	p.T10007A	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T9690A|TTN_ENST00000342992.6_Missense_Mutation_p.T8763A|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9690	Glu-rich.						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	ENST00000328252.3	+	20	5030	c.4661G>C	c.(4660-4662)tGt>tCt	p.C1554S	PAPPA_ENST00000534838.1_Missense_Mutation_p.C592S|PAPPA_ENST00000483254.1_3'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	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	ENST00000368594.3	+	7	778	c.501C>A	c.(499-501)atC>atA	p.I167I	INPP5A_ENST00000368593.3_Silent_p.I167I|INPP5A_ENST00000487614.1_3'UTR	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	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			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	0.00315865	0.038147	1	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713773	142713773	+	RNA	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.chr1:142713773C>G	ENST00000369381.2	-	0	832																											TCTTTTTCCACATTGTCATTT	0.284000													4	77					0	0	0.009096	0	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	ENST00000409333.1	+	10	1067	c.820C>T	c.(820-822)Cta>Tta	p.L274L	METTL5_ENST00000409837.1_Intron|SSB_ENST00000260956.4_Silent_p.L274L			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	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	ENST00000239462.4	+	3	818	c.705C>T	c.(703-705)ggC>ggT	p.G235G		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	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	ENST00000278886.6	-	23	3937	c.3864G>A	c.(3862-3864)ctG>ctA	p.L1288L	NINL_ENST00000464285.1_5'UTR|NINL_ENST00000422516.1_Silent_p.L939L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	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	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_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								22	39					0	0	0.069288	0	0
RP11-417J8.6	0	broad.mit.edu	37	1	142713774	142713774	+	RNA	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.chr1:142713774A>G	ENST00000369381.2	-	0	831																											CTTTTTCCACATTGTCATTTT	0.284000													4	76					0	0	0.009096	0	0
SMCR8	140775	broad.mit.edu	37	17	18220403	18220403	+	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.chr17:18220403G>A	ENST00000406438.3	+	1	1780	c.1300G>A	c.(1300-1302)Gga>Aga	p.G434R		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	434										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GCAGGAACTGGGAGATGAGGA	0.448000													4	86					0	0	0.009096	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	ENST00000377169.1	+	1	833	c.833C>T	c.(832-834)gCc>gTc	p.A278V		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	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	ENST00000298466.5	-	5	598	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	SOHLH1_ENST00000425225.1_Missense_Mutation_p.V180M	NM_001012415.2	NP_001012415.2	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	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	ENST00000589042.1	-	28	5146	c.4922C>A	c.(4921-4923)aCa>aAa	p.T1641K	TTN_ENST00000360870.5_Missense_Mutation_p.T1641K|TTN_ENST00000359218.5_Missense_Mutation_p.T1595K|TTN_ENST00000342175.6_Missense_Mutation_p.T1595K|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T1641K|TTN_ENST00000342992.6_Missense_Mutation_p.T1641K|TTN_ENST00000460472.2_Missense_Mutation_p.T1595K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1375	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	0.000170144	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	ENST00000375023.3	-	6	1291	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	385	EGF-like 9; calcium-binding (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			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
GLRA4	441509	broad.mit.edu	37	X	102962436	102962436	+	Missense_Mutation	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.chrX:102962436C>A	ENST00000372617.4	-	9	1510	c.1090G>T	c.(1090-1092)Gat>Tat	p.D364Y		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	364						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			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGGATGATATCTTCCTCCTGG	0.463000													4	40					3.59834e-05	3.99815e-05	0.021553	1	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	ENST00000379264.2	-	2	185	c.77T>C	c.(76-78)aTg>aCg	p.M26T	ACSL6_ENST00000296869.4_Missense_Mutation_p.M26T|ACSL6_ENST00000379246.1_Missense_Mutation_p.M12T|ACSL6_ENST00000379249.3_Start_Codon_SNP_p.M1T|ACSL6_ENST00000379272.2_Start_Codon_SNP_p.M1T|ACSL6_ENST00000543479.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000357096.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000431707.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000379240.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000379255.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000379244.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000477640.1_5'UTR	NM_001009185.2	NP_001009185.1	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			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	ENST00000375300.1	-	21	3668	c.3663C>T	c.(3661-3663)agC>agT	p.S1221S	SIK3_ENST00000375288.1_Silent_p.S498S|SIK3_ENST00000292055.4_Silent_p.S1163S|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000542607.1_Silent_p.S1103S|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000446921.2_Silent_p.S1161S|SIK3_ENST00000434315.2_Silent_p.S1002S			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1163						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			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	ENST00000295454.3	+	9	1539	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H	GABRB1_ENST00000538619.1_Missense_Mutation_p.R346H	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	416					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			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	ENST00000046087.2	-	8	1083	c.1014A>G	c.(1012-1014)caA>caG	p.Q338Q	ZPBP_ENST00000491129.1_Intron|ZPBP_ENST00000419417.1_Silent_p.Q337Q	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	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
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	ENST00000219334.5	-	5	2138	c.1535A>G	c.(1534-1536)aAc>aGc	p.N512S	SMPD3_ENST00000563226.1_Missense_Mutation_p.N512S|SMPD3_ENST00000568373.1_Missense_Mutation_p.N512S|SMPD3_ENST00000566009.1_5'UTR	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	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	ENST00000561734.1	-	3	611	c.368C>T	c.(367-369)aCg>aTg	p.T123M	RPUSD1_ENST00000567114.1_De_novo_Start_InFrame|RPUSD1_ENST00000565809.1_Intron|RPUSD1_ENST00000007264.2_Missense_Mutation_p.T123M			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	123					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			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	ENST00000391980.2	-	2	228	c.170G>A	c.(169-171)tGt>tAt	p.C57Y	MTERFD2_ENST00000407095.3_Missense_Mutation_p.C57Y|MTERFD2_ENST00000495694.1_Missense_Mutation_p.C57Y|MTERFD2_ENST00000406593.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	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	ENST00000317233.4	-	13	1490_1492	c.1255_1257delAGC	c.(1255-1257)del	p.S419del	AFF3_ENST00000409579.1_In_Frame_Del_p.S444del|AFF3_ENST00000409236.1_In_Frame_Del_p.S419del|AFF3_ENST00000356421.2_In_Frame_Del_p.S444del	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	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	ENST00000281321.3	+	1	414_422	c.166_174delGGCGGCGGC	c.(166-174)del	p.GGG65del	AC093887.1_ENST00000584185.1_RNA	NM_004575.2	NP_004566.2	Q12837	PO4F2_HUMAN	POU class 4 homeobox 2	65	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			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	---	---	---	---					
RP11-440G9.1	0	broad.mit.edu	37	6	142860298	142860299	+	RNA	INS	-	-	T	rs143051118	by1000genomes	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.chr6:142860298_142860299insT	ENST00000447311.1	-	0	364					NR_027312.1																						ttaggccagtatttttttttta	0.470													3	6	---	---	---	---					
RP11-551L14.1	0	broad.mit.edu	37	12	31269189	31269190	+	RNA	INS	-	-	ATCAT	rs35880498		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.chr12:31269189_31269190insATCAT	ENST00000542490.1	-	0	165																				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(25)|prostate(3)|stomach(3)|urinary_tract(1)	41						CATGAGAACTCATTACCATGAT	0.351													4	4	---	---	---	---					
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	ENST00000350221.3	-	11	1539_1546	c.1330_1337delCTTTCCAG	c.(1330-1338)gfs	p.LSR444fs		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	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	---	---	---	---					
ROCK1P1	0	broad.mit.edu	37	18	112402	112405	+	RNA	DEL	AACC	AACC	-	rs113232824		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.chr18:112402_112405delAACC	ENST00000576266.1	+	0	36_39																											CCCTGCCCCGAACCACCCGACCCC	0.711													4	6	---	---	---	---					
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	ENST00000380659.3	+	3	3149_3157	c.3010_3018delCGGAAAAGG	c.(3010-3018)del	p.RKR1004del		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	1004	TIR.				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			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	ENST00000373344.5	-	23	5832_5833	c.5618_5619insT	c.(5617-5619)tcafs	p.S1873fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.S1835fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	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	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	---	---	---	---					
