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
CLRN3	119467	broad.mit.edu	37	10	129676535	129676535	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr10:129676535C>T	ENST00000368671.3	-	3	721	c.559G>A	c.(559-561)Gtc>Atc	p.V187I		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	187						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				AGAAGAATGACGAGCAGTATG	0.468000													52	97					0	0	1	0	0
LINC00886	0	broad.mit.edu	37	3	156528265	156528265	+	RNA	SNP	C	C	T	rs10936037	by1000genomes	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr3:156528265C>T	ENST00000472943.1	-	0	148					NR_038387.1																						AAGTGACATACACAGTTATTT	0.403000													11	113					0	0	1	0	0
SSX5	6758	broad.mit.edu	37	X	48053571	48053571	+	Missense_Mutation	SNP	T	T	A			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chrX:48053571T>A	ENST00000311798.1	-	5	449	c.397A>T	c.(397-399)Aat>Tat	p.N133Y	SSX5_ENST00000376923.1_Missense_Mutation_p.N92Y|SSX5_ENST00000347757.1_Missense_Mutation_p.N92Y	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TCACCCTGATTCCCACGGTTA	0.507000													20	89					0	0	1	0	0
TNFRSF19	55504	broad.mit.edu	37	13	24234628	24234628	+	Splice_Site	SNP	C	C	T	rs138676880	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr13:24234628C>T	ENST00000382263.3	+	7	919	c.736_splice	c.e7+1	p.C245_splice	TNFRSF19_ENST00000248484.4_Splice_Site_p.C245_splice|TNFRSF19_ENST00000403372.2_Splice_Site_p.C113_splice|TNFRSF19_ENST00000382258.4_Splice_Site_p.C245_splice	NM_001204458.1	NP_001191387.1	Q9NS68	TNR19_HUMAN	tumor necrosis factor receptor superfamily, member 19	245					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		TGCAGACCTGCGGTAAGTTCA	0.557000													5	20					0	0	1	0	0
ACSM5	54988	broad.mit.edu	37	16	20432615	20432615	+	Missense_Mutation	SNP	A	A	G			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr16:20432615A>G	ENST00000331849.4	+	5	806	c.659A>G	c.(658-660)aAg>aGg	p.K220R		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	220					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ATGAGGACAAAGAGTCGAGAC	0.522000													17	25					0	0	1	0	0
HKR1	284459	broad.mit.edu	37	19	37835619	37835619	+	Silent	SNP	C	C	G			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr19:37835619C>G	ENST00000324411.4	+	3	302	c.33C>G	c.(31-33)ctC>ctG	p.L11L	HKR1_ENST00000591417.1_Intron|HKR1_ENST00000591471.1_Intron|HKR1_ENST00000591259.1_Intron|HKR1_ENST00000592168.1_Intron|HKR1_ENST00000392153.3_Intron|HKR1_ENST00000589392.1_Intron|HKR1_ENST00000544914.1_Intron	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	11					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTACAATGCTCCCTACATGCA	0.443000													12	77					0	0	1	0	0
NLRC5	84166	broad.mit.edu	37	16	57075470	57075470	+	Missense_Mutation	SNP	G	G	A	rs148873682	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr16:57075470G>A	ENST00000436936.1	+	18	3238	c.3013G>A	c.(3013-3015)Ggt>Agt	p.G1005S	NLRC5_ENST00000308149.7_Missense_Mutation_p.G1005S|NLRC5_ENST00000262510.6_Missense_Mutation_p.G1005S|NLRC5_ENST00000539144.1_Missense_Mutation_p.G1005S			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1005					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding	p.G1005S(1)		NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTGCCACCTCGGTCACCTCCA	0.532000													7	23					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H			O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma								23	42					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)		GCACAAACACGCACCTCAAAG	0.542000	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			23	10					0	0	1	0	0
TTN	7273	broad.mit.edu	37	2	179498807	179498807	+	Missense_Mutation	SNP	A	A	T			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr2:179498807A>T	ENST00000589042.1	-	231	42643	c.42419T>A	c.(42418-42420)aTa>aAa	p.I14140K	TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I5075K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I12499K|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I5200K|TTN_ENST00000342992.6_Missense_Mutation_p.I11572K|TTN_ENST00000342175.6_Missense_Mutation_p.I5267K|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12499	Fibronectin type-III 2.						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)			TTTCAGTCTTATACCTGAAAT	0.368000													10	45					0	0	1	0	0
LTF	4057	broad.mit.edu	37	3	46479431	46479431	+	Splice_Site	SNP	G	G	A	rs137886255		TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr3:46479431G>A	ENST00000231751.4	-	16	2393	c.2098_splice	c.e16+1	p.P700_splice	LTF_ENST00000426532.2_Splice_Site_p.P656_splice|LTF_ENST00000417439.1_Splice_Site_p.P698_splice	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	700					cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity	p.P700T(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GTCTACTTACGGGAGGTTGAG	0.458000													15	163					0	0	1	0	0
KIAA1210	57481	broad.mit.edu	37	X	118242329	118242329	+	Missense_Mutation	SNP	C	C	A			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chrX:118242329C>A	ENST00000402510.2	-	6	882	c.883G>T	c.(883-885)Gtc>Ttc	p.V295F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	295										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GCAACCCAGACTGCACTTGTA	0.483000													40	77					6.99958e-10	7.33289e-10	1	1	0
CDC42EP3	10602	broad.mit.edu	37	2	37873158	37873158	+	Missense_Mutation	SNP	G	G	T			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr2:37873158G>T	ENST00000295324.3	-	2	1573	c.573C>A	c.(571-573)agC>agA	p.S191R	AC006369.2_ENST00000419425.1_RNA	NM_001270436.1|NM_001270437.1|NM_001270438.1|NM_006449.3	NP_001257365.1|NP_001257366.1|NP_001257367.1|NP_006440.2	Q9UKI2	BORG2_HUMAN	CDC42 effector protein (Rho GTPase binding) 3	191					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				GTTCGGACAGGCTGGAGGAGT	0.592000													14	43					3.27435e-08	3.27435e-08	1	1	0
VWA2	340706	broad.mit.edu	37	10	116032596	116032596	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr10:116032596G>A	ENST00000603594.1	+	6	790	c.469G>A	c.(469-471)Gtc>Atc	p.V157I	VWA2_ENST00000392982.3_Missense_Mutation_p.V157I	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	157	VWFA 1.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		CCTCATCATCGTCACTGATGG	0.567000													9	43					0	0	1	0	0
MYO1B	4430	broad.mit.edu	37	2	192234306	192234306	+	Nonsense_Mutation	SNP	C	C	G			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr2:192234306C>G	ENST00000392318.3	+	12	1318	c.1071C>G	c.(1069-1071)taC>taG	p.Y357*	MYO1B_ENST00000304164.4_Nonsense_Mutation_p.Y357*|MYO1B_ENST00000392316.1_Nonsense_Mutation_p.Y357*|MYO1B_ENST00000339514.4_Nonsense_Mutation_p.Y357*	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	357	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AAAACCTCTACAGCAGGTTGT	0.328000													11	36					0	0	1	0	0
LINC00969	0	broad.mit.edu	37	3	195400918	195400919	+	RNA	INS	-	-	T	rs55992531	by1000genomes	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr3:195400918_195400919insT	ENST00000445430.1	+	0	1454																											AGTCttttttctttttttttga	0.525													5	5	---	---	---	---					
LIPE	3991	broad.mit.edu	37	19	42906913	42906914	+	Frame_Shift_Ins	INS	-	-	G	rs7246232	byFrequency	TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chr19:42906913_42906914insG	ENST00000244289.4	-	9	3088_3089	c.2812_2813insC	c.(2812-2814)tgcfs	p.C938fs	LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	938			R -> S (in dbSNP:rs7246232).		cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GAAGGCGGCACGGACGCCCAGG	0.604													11	19	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76938832	76938832	+	Frame_Shift_Del	DEL	A	A	-			TCGA-HW-7493-01A-11D-2024-08	TCGA-HW-7493-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ba86094-5899-4172-95cc-c51fab21be88	dbbd04e5-3bdb-49af-9abe-b0053be4cf0b	g.chrX:76938832delA	ENST00000373344.5	-	9	2130	c.1916delT	c.(1915-1917)tgfs	p.L639fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.L601fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	639					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)	ATTTTCAACCAAATGCTCATT	0.413			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						129	250	---	---	---	---					
