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
HMCN1	83872	broad.mit.edu	37	1	186105910	186105910	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr1:186105910C>T	ENST00000271588.4	+	87	13652	c.13423C>T	c.(13423-13425)Cgt>Tgt	p.R4475C	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4475C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4475	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TACATGGTCCCGTCAAGGGCA	0.428000													66	55					0	0	1	0	0
DBR1	51163	broad.mit.edu	37	3	137882319	137882319	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr3:137882319A>C	ENST00000260803.4	-	7	966	c.813T>G	c.(811-813)caT>caG	p.H271Q	DBR1_ENST00000505015.2_Missense_Mutation_p.H37Q	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	271						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CACTGGGGTCATGTTCTATCT	0.323000													4	45					0	0	1	0	0
CCDC153	283152	broad.mit.edu	37	11	119063944	119063944	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:119063944C>T	ENST00000503566.2	-	4	265	c.266G>A	c.(265-267)cGc>cAc	p.R89H	CCDC153_ENST00000415318.1_Missense_Mutation_p.R89H			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	89										lung(3)|stomach(1)	4						ATGGCACTGGCGACTCATCTC	0.592000													4	81					0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182987919	182987919	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr3:182987919G>A	ENST00000326505.3	+	2	863	c.333G>A	c.(331-333)tgG>tgA	p.W111*	MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000465010.1_Nonsense_Mutation_p.W111*|B3GNT5_ENST00000460419.1_Nonsense_Mutation_p.W111*|MCF2L2_ENST00000328913.3_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	111					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GAAGGACGTGGGGCAATGAAA	0.428000													26	64					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6707865	6707865	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr19:6707865C>T	ENST00000245907.6	-	15	2013	c.1921G>A	c.(1921-1923)Gac>Aac	p.D641N		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	641					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGCCCTGCGTCGGAGAAGACA	0.682000													21	38					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10085416	10085416	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chrX:10085416G>T	ENST00000380861.4	+	11	1708	c.1317G>T	c.(1315-1317)caG>caT	p.Q439H	WWC3_ENST00000454666.1_Missense_Mutation_p.Q439H	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	439	Ser-rich.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TCCACAAGCAGAGGCGGTCCC	0.672000													12	32					7.03913e-09	7.15843e-09	1	1	0
ACBD3	64746	broad.mit.edu	37	1	226349374	226349374	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr1:226349374G>A	ENST00000366812.5	-	4	640	c.586C>T	c.(586-588)Cga>Tga	p.R196*		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	196	Arg-rich.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		cgccgccttcgctcctcttcc	0.458000													14	11					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr17:7578265A>G	ENST00000420246.2	-	6	716	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000269305.4_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000445888.2_Missense_Mutation_p.I195T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> 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.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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)		TTCCACTCGGATAAGATGCTG	0.552000		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)			33	9					0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98354504	98354504	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr2:98354504G>A	ENST00000264972.5	+	13	1885	c.1670G>A	c.(1669-1671)cGg>cAg	p.R557Q	ZAP70_ENST00000451498.2_Missense_Mutation_p.R250Q|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000442208.1_Missense_Mutation_p.R431Q	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	557	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CAGGGCAAGCGGATGGAGTGC	0.607000													3	4					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110655044	110655044	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr8:110655044G>A	ENST00000399066.3	-	1	860	c.133C>T	c.(133-135)Cct>Tct	p.P45S	SYBU_ENST00000419099.1_Missense_Mutation_p.P47S|SYBU_ENST00000422135.1_Missense_Mutation_p.P48S|SYBU_ENST00000408908.2_Missense_Mutation_p.P48S|SYBU_ENST00000528647.1_Missense_Mutation_p.P47S|SYBU_ENST00000533895.1_Missense_Mutation_p.P47S|SYBU_ENST00000433638.1_Missense_Mutation_p.P48S|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000424158.2_Missense_Mutation_p.P53S|SYBU_ENST00000533171.1_Missense_Mutation_p.P48S|SYBU_ENST00000440310.1_Missense_Mutation_p.P48S|SYBU_ENST00000446070.2_Missense_Mutation_p.P47S|SYBU_ENST00000276646.9_Missense_Mutation_p.P48S|SYBU_ENST00000532779.1_Intron	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	48	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCAGAGAAAGGAGACTCAGAG	0.552000													5	89					0	0	1	0	0
ALDH3A1	218	broad.mit.edu	37	17	19641635	19641635	+	Splice_Site	SNP	C	C	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr17:19641635C>T	ENST00000457500.2	-	9	1677		c.e9+1		ALDH3A1_ENST00000494157.2_Splice_Site|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000395555.3_Splice_Site|ALDH3A1_ENST00000225740.6_Splice_Site|ALDH3A1_ENST00000444455.1_Splice_Site	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1						cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CCCCCTCTCACCTTGGCCGGG	0.632000													4	61					0	0	1	0	0
MASTL	84930	broad.mit.edu	37	10	27459597	27459597	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr10:27459597A>G	ENST00000375946.4	+	8	2312	c.1709A>G	c.(1708-1710)gAt>gGt	p.D570G	MASTL_ENST00000375940.4_Missense_Mutation_p.D570G|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000342386.6_Missense_Mutation_p.D570G	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	570	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGAACTCTGATTCATCTTTT	0.323000													4	67					0	0	1	0	0
TVP23C	201158	broad.mit.edu	37	17	15441469	15441469	+	Splice_Site	SNP	C	C	T	rs139351610	by1000genomes	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr17:15441469C>T	ENST00000584811.1	-	7	1815		c.e7-2		TVP23C_ENST00000225576.3_Intron|TVP23C_ENST00000519970.1_Intron|TVP23C_ENST00000428082.2_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron					trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)																		TCCAGTGTTCCGCAAAAGACA	0.393000													5	76					0	0	1	0	0
GRIA1	0	broad.mit.edu	37	5	153026583	153026583	+	Missense_Mutation	SNP	G	G	A	rs138238382		TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr5:153026583G>A	ENST00000285900.5	+	3	659	c.316G>A	c.(316-318)Gtc>Atc	p.V106I	GRIA1_ENST00000518783.1_Missense_Mutation_p.V116I|GRIA1_ENST00000340592.5_Missense_Mutation_p.V106I|GRIA1_ENST00000518142.1_Intron|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000521843.2_Missense_Mutation_p.V37I|GRIA1_ENST00000448073.4_Missense_Mutation_p.V116I	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	106					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCCCTCCACGTCTGCTTCAT	0.502000													13	107					0	0	1	0	0
PRKAA1	5562	broad.mit.edu	37	5	40765101	40765101	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr5:40765101G>A	ENST00000397128.2	-	7	1069	c.1061C>T	c.(1060-1062)gCg>gTg	p.A354V	PRKAA1_ENST00000354209.3_Missense_Mutation_p.A369V	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	354					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TGGGCTTGTCGCCAAATAGAA	0.438000													6	58					0	0	1	0	0
OR5B21	219968	broad.mit.edu	37	11	58275443	58275443	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:58275443T>C	ENST00000360374.2	-	1	135	c.136A>G	c.(136-138)Atc>Gtc	p.I46V		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAGTGGATGATCACCATCATT	0.478000													7	67					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671624	45671624	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:45671624A>G	ENST00000308064.2	-	4	1520	c.850T>C	c.(850-852)Tcc>Ccc	p.S284P		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	284					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		AGGCCGGTGGACACGGAGTTG	0.622000													7	61					0	0	1	0	0
IL7R	3575	broad.mit.edu	37	5	35875624	35875624	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr5:35875624A>C	ENST00000303115.3	+	7	940	c.811A>C	c.(811-813)Atc>Ctc	p.I271L	IL7R_ENST00000506850.1_Silent_p.L239L|IL7R_ENST00000343305.4_Silent_p.L239L	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	271					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			GATTAAGCCTATCGTATGGCC	0.423000			"""Mis, O"""		"""ALL, ETP ALL"""		Severe combined immune deficiency						4	36					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158443697	158443697	+	Splice_Site	SNP	A	A	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr2:158443697A>G	ENST00000243349.7	-	2	665		c.e2+1		ACVR1C_ENST00000348328.5_Splice_Site|ACVR1C_ENST00000335450.7_Splice_Site|ACVR1C_ENST00000409680.3_Splice_Site	NM_145259.2	NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC						apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TAAACCCCTTACCTGTTGGAA	0.348000													8	112					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113277704	113277704	+	Silent	SNP	A	A	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr8:113277704A>G	ENST00000297405.5	-	60	9868	c.9624T>C	c.(9622-9624)aaT>aaC	p.N3208N	CSMD3_ENST00000352409.3_Silent_p.N3138N|CSMD3_ENST00000343508.3_Silent_p.N3168N|CSMD3_ENST00000455883.2_Silent_p.N3039N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3208	Sushi 24.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCTGGAGCCATTCAATTCCA	0.403000										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	113					0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49508437	49508437	+	Silent	SNP	A	A	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr20:49508437A>G	ENST00000396029.3	-	5	3381	c.2814T>C	c.(2812-2814)acT>acC	p.T938T	ADNP_ENST00000396032.3_Silent_p.T938T|ADNP_ENST00000349014.3_Silent_p.T938T|ADNP_ENST00000371602.4_Silent_p.T938T	NM_015339.2	NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	938						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TCAAATGAATAGTTTCGTATT	0.423000													13	165					0	0	1	0	0
ZNF45	7596	broad.mit.edu	37	19	44417944	44417944	+	Silent	SNP	C	C	T	rs147606810	byFrequency	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr19:44417944C>T	ENST00000269973.5	-	10	2734	c.1644G>A	c.(1642-1644)agG>agA	p.R548R	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Silent_p.R548R	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	548					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CAGTGTGGCACCTCTGATGGG	0.517000													4	85					0	0	1	0	0
RP11-159L20.2	0	broad.mit.edu	37	14	31290975	31290975	+	RNA	SNP	G	G	C			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr14:31290975G>C	ENST00000554665.1	-	0	208																											GGCTGGACAAGAAGCCAAGAT	0.428000													6	12					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	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	41					0	0	1	0	0
IGHV3-43	0	broad.mit.edu	37	14	106926204	106926204	+	RNA	SNP	T	T	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr14:106926204T>A	ENST00000434710.1	-	0	417																											TGCACAGTAATACAAGGCGGT	0.532000													18	204					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110655043	110655043	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr8:110655043G>A	ENST00000399066.3	-	1	861	c.134C>T	c.(133-135)cCt>cTt	p.P45L	SYBU_ENST00000419099.1_Missense_Mutation_p.P47L|SYBU_ENST00000422135.1_Missense_Mutation_p.P48L|SYBU_ENST00000408908.2_Missense_Mutation_p.P48L|SYBU_ENST00000528647.1_Missense_Mutation_p.P47L|SYBU_ENST00000533895.1_Missense_Mutation_p.P47L|SYBU_ENST00000433638.1_Missense_Mutation_p.P48L|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000408889.3_Intron|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000424158.2_Missense_Mutation_p.P53L|SYBU_ENST00000533171.1_Missense_Mutation_p.P48L|SYBU_ENST00000440310.1_Missense_Mutation_p.P48L|SYBU_ENST00000446070.2_Missense_Mutation_p.P47L|SYBU_ENST00000276646.9_Missense_Mutation_p.P48L|SYBU_ENST00000532779.1_Intron	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	48	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CTCAGAGAAAGGAGACTCAGA	0.552000													5	88					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510502	5510502	+	Missense_Mutation	SNP	G	G	C	rs74379370	by1000genomes	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:5510502G>C	ENST00000322641.5	+	1	588	c.566G>C	c.(565-567)cGa>cCa	p.R189P	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCATTGCCCGACTGGCCTGT	0.522000													78	86					0	0	1	0	0
ZC3H11A	9877	broad.mit.edu	37	1	203807189	203807189	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr1:203807189A>G	ENST00000545588.1	+	10	4797	c.970A>G	c.(970-972)Aaa>Gaa	p.K324E	ZC3H11A_ENST00000367214.1_Missense_Mutation_p.K324E|ZC3H11A_ENST00000367212.3_Missense_Mutation_p.K324E|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.K324E|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.K324E	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	324							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AACACCAAAGAAAGGTACCTG	0.398000													3	41					0	0	1	0	0
RP11-771D21.2	0	broad.mit.edu	37	6	52013825	52013825	+	RNA	SNP	C	C	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr6:52013825C>T	ENST00000418518.2	-	0	238				MIR133B_ENST00000362210.1_RNA																							GCTGGCAATGCCCAGTCCTTG	0.458000													7	27					0	0	1	0	0
NKX2-1	7080	broad.mit.edu	37	14	36987039	36987039	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr14:36987039G>A	ENST00000518149.1	-	3	1165	c.560C>T	c.(559-561)tCg>tTg	p.S187L	NKX2-1_ENST00000354822.5_Missense_Mutation_p.S217L|NKX2-1_ENST00000522719.2_Missense_Mutation_p.S187L|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000498187.2_Missense_Mutation_p.S187L			P43699	NKX21_HUMAN	NK2 homeobox 1	187					epithelial tube branching involved in lung morphogenesis|globus pallidus development|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|thyroid gland development		protein binding|transcription regulatory region DNA binding			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	7	all_cancers(3;4.47e-51)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.165)		Lung(8;1.8e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.014)|all cancers(34;0.0366)|LUSC - Lung squamous cell carcinoma(13;0.132)	GBM - Glioblastoma multiforme(112;0.0171)		CTCCGGCGCCGACAGGTACTT	0.657000			A		NSCLC								3	16					0	0	1	0	0
LL22NC03-80A10.6	0	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	T	G	rs1054157	by1000genomes	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr22:22663086T>G	ENST00000426066.1	+	0	525					NR_027293.1																						AGCTGCCACATAAGTTGTCCT	0.299000													4	29					0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr20:23967157A>G	ENST00000335694.4	-	2	296	c.92T>C	c.(91-93)aTg>aCg	p.M31T	GGTLC1_ENST00000286890.4_Missense_Mutation_p.M31T|GGTLC1_ENST00000278765.4_Missense_Mutation_p.M31T	NM_178311.2	NP_842563.1	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	31							gamma-glutamyltransferase activity	p.M31T(6)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						GTCATCCGGCATGTAGAACTC	0.622000													4	41					0	0	1	0	0
HSD17B7P2	0	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1																						TCATCTCGCAATGCAAGGAAA	0.453000													6	33					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10351193	10351193	+	Missense_Mutation	SNP	G	G	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr17:10351193G>T	ENST00000255381.2	-	34	5017	c.4907C>A	c.(4906-4908)gCc>gAc	p.A1636D	CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1636					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTGGCGGTTGGCATGGTTCAG	0.453000													78	127					1.25742e-37	1.30078e-37	1	1	0
COL12A1	1303	broad.mit.edu	37	6	75834890	75834890	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr6:75834890T>C	ENST00000322507.8	-	40	6869	c.6560A>G	c.(6559-6561)cAa>cGa	p.Q2187R	COL12A1_ENST00000345356.6_Missense_Mutation_p.Q1023R|COL12A1_ENST00000416123.2_Missense_Mutation_p.Q2187R|COL12A1_ENST00000483888.2_Missense_Mutation_p.Q2187R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2187	Fibronectin type-III 17.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGAATCATATTGAGCATAAAC	0.413000													19	28					0	0	1	0	0
PDCD2L	84306	broad.mit.edu	37	19	34900075	34900075	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr19:34900075A>G	ENST00000246535.3	+	4	393	c.346A>G	c.(346-348)Aac>Gac	p.N116D	RP11-618P17.4_ENST00000606020.1_Missense_Mutation_p.111_111insD|PDCD2L_ENST00000587065.2_Intron	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	116						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAAACAGGGAAACAGCCTTGC	0.522000													30	53					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133961128	133961128	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr8:133961128A>T	ENST00000220616.4	+	27	5381	c.5341A>T	c.(5341-5343)Aca>Tca	p.T1781S	TG_ENST00000377869.1_Missense_Mutation_p.T1724S|TG_ENST00000542445.1_Missense_Mutation_p.T151S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1781					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCCTGGTGTGACATATGACCA	0.468000													24	173					0	0	1	0	0
PPP1R26	9858	broad.mit.edu	37	9	138378218	138378218	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr9:138378218C>T	ENST00000356818.2	+	4	2411	c.1862C>T	c.(1861-1863)gCc>gTc	p.A621V	PPP1R26_ENST00000602993.1_Intron|PPP1R26_ENST00000605660.1_Missense_Mutation_p.A621V|PPP1R26_ENST00000401470.3_Missense_Mutation_p.A621V|PPP1R26_ENST00000605286.1_Missense_Mutation_p.A621V|PPP1R26_ENST00000604351.1_Missense_Mutation_p.A621V	NM_014811.3	NP_055626.3	Q5T8A7	K0649_HUMAN	protein phosphatase 1, regulatory subunit 26	621						nucleolus	protein binding										AGCCAGGATGCCGACCACAGC	0.647000													3	35					0	0	1	0	0
TBATA	219793	broad.mit.edu	37	10	72541755	72541755	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr10:72541755G>A	ENST00000299290.1	-	4	468	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	TBATA_ENST00000545575.1_Missense_Mutation_p.R17C|TBATA_ENST00000456372.2_Missense_Mutation_p.R27C	NM_152710.2	NP_689923.2			thymus, brain and testes associated																		CTTGGCTTGCGCCCTGACTTC	0.587000													34	52					0	0	1	0	0
SLC22A1	6580	broad.mit.edu	37	6	160543229	160543229	+	Missense_Mutation	SNP	T	T	C	rs55918055	byFrequency	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr6:160543229T>C	ENST00000366963.4	+	1	409	c.262T>C	c.(262-264)Tgc>Cgc	p.C88R	SLC22A1_ENST00000457470.2_Missense_Mutation_p.C88R|SLC22A1_ENST00000324965.4_Missense_Mutation_p.C88R	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	88			C -> R (in dbSNP:rs55918055).			basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		CCTTGGCCAGTGCAGGCGCTA	0.677000													4	68					0	0	1	0	0
EDA	1896	broad.mit.edu	37	X	68836453	68836453	+	Missense_Mutation	SNP	C	C	T	rs41539891		TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chrX:68836453C>T	ENST00000374552.4	+	1	543	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	EDA_ENST00000525810.1_Missense_Mutation_p.P101S|EDA_ENST00000527388.1_Missense_Mutation_p.P101S|EDA_ENST00000502251.1_3'UTR|EDA_ENST00000374553.2_Missense_Mutation_p.P101S|EDA_ENST00000524573.1_Missense_Mutation_p.P101S|EDA_ENST00000338901.3_Missense_Mutation_p.P101S	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	101					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CCCTGACAGCCCCATCACCAG	0.677000													26	9					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22363146	22363146	+	Silent	SNP	C	C	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:22363146C>T	ENST00000263160.3	+	2	596	c.159C>T	c.(157-159)ccC>ccT	p.P53P		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	53					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TAGAGGTGCCCGAGAGGAAGG	0.642000													4	37					0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102142925	102142925	+	Missense_Mutation	SNP	A	A	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr12:102142925A>G	ENST00000299314.7	-	20	3909	c.3647T>C	c.(3646-3648)cTa>cCa	p.L1216P		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1216					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CAATGTTGCTAGTACACAATG	0.338000													34	97					0	0	1	0	0
ORC4	5000	broad.mit.edu	37	2	148716409	148716409	+	Silent	SNP	G	G	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr2:148716409G>A	ENST00000535373.1	-	6	684	c.252C>T	c.(250-252)ctC>ctT	p.L84L	ORC4_ENST00000540442.1_Silent_p.L10L|ORC4_ENST00000536575.1_5'UTR|ORC4_ENST00000542387.1_Intron|ORC4_ENST00000392857.4_Silent_p.L84L|ORC4_ENST00000392858.1_Silent_p.L84L|ORC4_ENST00000264169.2_Silent_p.L84L	NM_001190879.2	NP_001177808.1	O43929	ORC4_HUMAN	origin recognition complex, subunit 4	84					cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|nucleoside-triphosphatase activity|protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	14						CTATTTCCATGAGTTCTTTCA	0.264000													17	18					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	608555	608555	+	Silent	SNP	G	G	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:608555G>A	ENST00000264555.5	+	14	3227	c.3099G>A	c.(3097-3099)gcG>gcA	p.A1033A	PHRF1_ENST00000416188.2_Silent_p.A1032A|PHRF1_ENST00000533464.1_Silent_p.A1029A|PHRF1_ENST00000413872.2_Silent_p.A1031A	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1033	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CGAGGTCAGCGTCACCATCAG	0.662000													8	18					0	0	1	0	0
RP11-423O2.5	0	broad.mit.edu	37	1	142803646	142803646	+	RNA	SNP	G	G	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr1:142803646G>A	ENST00000423385.1	-	0	1319																											gttgtattctgggctagacat	0.299000													4	63					0	0	1	0	0
CDH19	28513	broad.mit.edu	37	18	64202239	64202239	+	Missense_Mutation	SNP	A	A	C			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr18:64202239A>C	ENST00000262150.2	-	8	1612	c.1320T>G	c.(1318-1320)atT>atG	p.I440M	CDH19_ENST00000540086.1_Missense_Mutation_p.I440M	NM_021153.2	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	440	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTGTGGCTGTAATACTTAGGT	0.338000													4	74					0	0	1	0	0
GTF2IRD2P1	0	broad.mit.edu	37	7	72658179	72658179	+	RNA	SNP	T	T	C	rs147293416	by1000genomes	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr7:72658179T>C	ENST00000425256.1	-	0	1732					NR_002164.1																						cagagtgatttcggatgaatt	0.507000													5	54					0	0	1	0	0
RP11-608O21.1	0	broad.mit.edu	37	4	19815895	19815895	+	RNA	DEL	A	A	-	rs145239076		TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr4:19815895delA	ENST00000511431.1	+	0	288																											TCTGGGCTGTaaaaaaaaaaa	0.413													3	6	---	---	---	---					
PNLIPRP2	5408	broad.mit.edu	37	10	118396277	118396277	+	RNA	DEL	G	G	-	rs148140777	by1000genomes	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr10:118396277delG	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTT	0.423													4	7	---	---	---	---					
RP13-329D4.3	0	broad.mit.edu	37	20	26113543	26113543	+	RNA	DEL	A	A	-			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr20:26113543delA	ENST00000416563.1	-	0	250																											TCTTTGCCTTAACAACATTAT	0.363													3	4	---	---	---	---					
TXNRD2	10587	broad.mit.edu	37	22	19929320	19929321	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr22:19929320_19929321delCC	ENST00000400519.1	-	1	5_6	c.6_7delGG	c.(4-9)gccafs	p.AA2fs	TXNRD2_ENST00000400521.1_Frame_Shift_Del_p.AA2fs|TXNRD2_ENST00000400525.1_Frame_Shift_Del_p.AA2fs|TXNRD2_ENST00000334363.9_Frame_Shift_Del_p.AA2fs|TXNRD2_ENST00000535882.1_Frame_Shift_Del_p.AA2fs|COMT_ENST00000407537.1_5'UTR|COMT_ENST00000403710.1_5'UTR|COMT_ENST00000403184.1_5'UTR|COMT_ENST00000361682.6_5'UTR			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	2					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					ACCGCCATTGCCGCCATCGTCG	0.797													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939957	76939957	+	Frame_Shift_Del	DEL	T	T	-			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chrX:76939957delT	ENST00000373344.5	-	9	1005	c.791delA	c.(790-792)ttfs	p.Y264fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.Y226fs	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	264	ADD.				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)	AATGTAGCAATACCATTGGTT	0.398			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome						121	58	---	---	---	---