Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_status	validation_method	validation_tumor_sample	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
MST1P2	11209	broad.mit.edu	37	1	16974224	16974224	+	RNA	SNP	C	G	G	rs148702086	by1000genomes	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr1:16974224C>G	uc009vow.2	+	5		c.1034C>G			MST1P2_uc010ocg.1_RNA|MST1P2_uc010och.1_Intron|MST1P2_uc010oci.1_RNA|MST1P2_uc001azk.2_Intron|MST1P2_uc001azl.3_RNA|MST1P2_uc009vox.2_Intron|MST1P2_uc001azm.3_Intron					Homo sapiens cDNA FLJ53774 complete cds, moderately similar to Hepatocyte growth factor-like protein precursor.												0						TTGGTCCCAGCCCCAGAGGGA	0.652													5	19					0	0	1	0	0
LOC100286793	100286793	broad.mit.edu	37	1	143744418	143744418	+	RNA	SNP	C	T	T	rs71661951		TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr1:143744418C>T	uc001ejp.3	-	1		c.170G>A			LOC100286793_uc001ejr.3_RNA|LOC100286793_uc009whx.2_RNA|LOC100286793_uc009why.2_RNA					Homo sapiens cDNA FLJ39739 fis, clone SMINT2016440.												0						CAAGTGGTTTCGGAAGTGATC	0.403													3	16					0	0	1	0	0
HMCN1	83872	broad.mit.edu	37	1	186105910	186105910	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr1:186105910C>T	uc001grq.1	+	87	13652	c.13423C>T	c.(13423-13425)CGT>TGT	p.R4475C	HMCN1_uc001grs.1_Missense_Mutation_p.R44C	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	hemicentin 1 precursor	4475	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			ovary(22)|skin(1)	23						TACATGGTCCCGTCAAGGGCA	0.428													66	55					0	0	1	0	0
ACBD3	64746	broad.mit.edu	37	1	226349374	226349374	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr1:226349374G>A	uc001hpy.2	-	4	633	c.586C>T	c.(586-588)CGA>TGA	p.R196*		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	acyl-Coenzyme A binding domain containing 3	196	Arg-rich.|Potential.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding				0	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		cgccgccttcgctcctcttcc	0.149													14	11					0	0	1	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr10:38654432A>G	uc010qex.1	+	5	599	c.524A>G	c.(523-525)AAT>AGT	p.N175S	HSD17B7P2_uc001izq.2_RNA|HSD17B7P2_uc001izo.1_RNA|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					SubName: Full=cDNA FLJ60462, highly similar to 3-keto-steroid reductase (EC 1.1.1.270);												0						TCATCTCGCAATGCAAGGAAA	0.453													6	33					0	0	1	0	0
C10orf27	219793	broad.mit.edu	37	10	72541755	72541755	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr10:72541755G>A	uc001jrj.1	-	4	469	c.79C>T	c.(79-81)CGC>TGC	p.R27C	C10orf27_uc010qjm.1_Missense_Mutation_p.R27C|C10orf27_uc009xqh.1_RNA|C10orf27_uc010qjn.1_Missense_Mutation_p.R27C|C10orf27_uc009xqi.1_RNA|C10orf27_uc010qjo.1_Missense_Mutation_p.R16C|C10orf27_uc009xqj.1_Missense_Mutation_p.R16C|C10orf27_uc010qjp.1_Missense_Mutation_p.R16C	NM_152710	NP_689923	Q96M53	SPATL_HUMAN	stromal protein associated with thymii and lymph	27					cell differentiation|multicellular organismal development|spermatogenesis	cytosol				skin(1)	1						CTTGGCTTGCGCCCTGACTTC	0.587													34	52					0	0	1	0	0
PHRF1	57661	broad.mit.edu	37	11	608555	608555	+	Silent	SNP	G	A	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:608555G>A	uc001lqe.2	+	14	3230	c.3099G>A	c.(3097-3099)GCG>GCA	p.A1033A	PHRF1_uc010qwc.1_Silent_p.A1032A|PHRF1_uc010qwd.1_Silent_p.A1031A|PHRF1_uc010qwe.1_Silent_p.A1029A|PHRF1_uc009ybz.1_Silent_p.A823A|PHRF1_uc009yca.1_RNA	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1033	Arg-rich.						RNA polymerase binding|zinc ion binding				0						CGAGGTCAGCGTCACCATCAG	0.662													8	18					0	0	1	0	0
OR52D1	390066	broad.mit.edu	37	11	5510502	5510502	+	Missense_Mutation	SNP	G	C	C	rs74379370	by1000genomes	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:5510502G>C	uc010qzg.1	+	1	566	c.566G>C	c.(565-567)CGA>CCA	p.R189P	HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc001maq.1_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D,	189	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)	1		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	0.522													78	86					0	0	1	0	0
SLC17A6	57084	broad.mit.edu	37	11	22363146	22363146	+	Silent	SNP	C	T	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:22363146C>T	uc001mqk.2	+	2	572	c.159C>T	c.(157-159)CCC>CCT	p.P53P		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (sodium-dependent	53	Cytoplasmic (Potential).				sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			ovary(3)|breast(1)	4						TAGAGGTGCCCGAGAGGAAGG	0.642													4	37					0	0	1	0	0
CHST1	8534	broad.mit.edu	37	11	45671624	45671624	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:45671624A>G	uc001mys.1	-	4	1521	c.850T>C	c.(850-852)TCC>CCC	p.S284P		NM_003654	NP_003645	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6)	284	Lumenal (Potential).				galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			skin(4)|pancreas(1)	5				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		AGGCCGGTGGACACGGAGTTG	0.622													7	61					0	0	1	0	0
OR5B21	219968	broad.mit.edu	37	11	58275443	58275443	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:58275443T>C	uc010rki.1	-	1	136	c.136A>G	c.(136-138)ATC>GTC	p.I46V		NM_001005218	NP_001005218	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B,	46	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(3)	3	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAGTGGATGATCACCATCATT	0.478													7	67					0	0	1	0	0
GNPTAB	79158	broad.mit.edu	37	12	102142925	102142925	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr12:102142925A>G	uc001tit.2	-	20	3826	c.3647T>C	c.(3646-3648)CTA>CCA	p.L1216P		NM_024312	NP_077288	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase	1216	Helical; (Potential).				cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			ovary(1)|skin(1)	2						CAATGTTGCTAGTACACAATG	0.338													34	97					0	0	1	0	0
Unknown	0	broad.mit.edu	37	14	31290975	31290975	+	RNA	SNP	G	C	C			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr14:31290975G>C	uc001wqo.2	+	1		c.343G>C								full-length cDNA clone CS0DC024YB05 of Neuroblastoma Cot 25-normalized of Homo sapiens (human).																		GGCTGGACAAGAAGCCAAGAT	0.428													6	12					0	0	1	0	0
NKX2-1	7080	broad.mit.edu	37	14	36987039	36987039	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr14:36987039G>A	uc001wtt.2	-	2	901	c.560C>T	c.(559-561)TCG>TTG	p.S187L	SFTA3_uc001wts.2_Intron|NKX2-1_uc001wtu.2_Missense_Mutation_p.S217L|NKX2-1_uc001wtv.2_Missense_Mutation_p.S187L|uc001wtw.1_5'Flank	NM_003317	NP_003308	P43699	NKX21_HUMAN	thyroid transcription factor 1 isoform 2	187	Homeobox.				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			skin(1)	1	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	0.657			A		NSCLC								3	16					0	0	1	0	0
ADAM6	8755	broad.mit.edu	37	14	106926204	106926204	+	RNA	SNP	T	A	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr14:106926204T>A	uc010tyt.1	-	235		c.10351A>T			uc010tyu.1_Intron					Parts of antibodies, mostly variable regions.												0						TGCACAGTAATACAAGGCGGT	0.532													18	204					0	0	1	0	0
WASH3P	374666	broad.mit.edu	37	15	102515299	102515299	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr15:102515299G>A	uc002cdi.2	+	9	1943	c.523G>A	c.(523-525)GGC>AGC	p.G175S	WASH3P_uc002cdl.2_Missense_Mutation_p.G175S|WASH3P_uc002cdk.2_RNA|WASH3P_uc002cdp.2_Missense_Mutation_p.G175S|WASH3P_uc010bpo.2_RNA|WASH3P_uc002cdq.2_RNA|WASH3P_uc002cdr.2_RNA	NR_003659				RecName: Full=WAS protein family homolog 2; AltName: Full=Protein FAM39B; AltName: Full=CXYorf1-like protein on chromosome 2;												0						TGGGGGCATCGGCAAGGCCAA	0.652													9	11					0	0	1	0	0
TP53	7157	broad.mit.edu	37	17	7578265	7578265	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr17:7578265A>G	uc002gim.2	-	6	778	c.584T>C	c.(583-585)ATC>ACC	p.I195T	TP53_uc002gig.1_Missense_Mutation_p.I195T|TP53_uc002gih.2_Missense_Mutation_p.I195T|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.I63T|TP53_uc010cng.1_Missense_Mutation_p.I63T|TP53_uc002gii.1_Missense_Mutation_p.I63T|TP53_uc010cnh.1_Missense_Mutation_p.I195T|TP53_uc010cni.1_Missense_Mutation_p.I195T|TP53_uc002gij.2_Missense_Mutation_p.I195T|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102T|TP53_uc002gio.2_Missense_Mutation_p.I63T|TP53_uc010vug.1_Missense_Mutation_p.I156T	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	195	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; 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).|I -> N (in sporadic cancers; somatic mutation).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I195T(61)|p.I195F(16)|p.I195N(12)|p.0?(7)|p.I195S(4)|p.A189_V197delAPPQHLIRV(4)|p.I195fs*14(3)|p.I195fs*52(3)|p.K164_P219del(1)|p.I195L(1)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.H193_I195delHLI(1)|p.H193_I195>AP(1)|p.I195fs*12(1)		large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TTCCACTCGGATAAGATGCTG	0.552		111	Mis|N|F		breast|colorectal|lung|sarcoma|adrenocortical|glioma|multiple other tumour types	breast|sarcoma|adrenocortical carcinoma|glioma|multiple other tumour types		Other_conserved_DNA_damage_response_genes	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_Familial_Clustering_of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			33	9					0	0	1	0	0
MYH4	4622	broad.mit.edu	37	17	10351193	10351193	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr17:10351193G>T	uc002gmn.2	-	34	5018	c.4907C>A	c.(4906-4908)GCC>GAC	p.A1636D	uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	myosin, heavy polypeptide 4, skeletal muscle	1636	Potential.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			ovary(10)|skin(2)|central_nervous_system(1)	13						CTGGCGGTTGGCATGGTTCAG	0.453													78	127					1.25742e-37	1.28208e-37	1	1	0
ALDH3A1	218	broad.mit.edu	37	17	19641635	19641635	+	Splice_Site	SNP	C	T	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr17:19641635C>T	uc010cqu.2	-	9	1677	c.1347_splice	c.e9+1	p.K449_splice	ALDH3A1_uc010vzd.1_Splice_Site_p.K449_splice|ALDH3A1_uc002gwj.2_Splice_Site_p.K449_splice|ALDH3A1_uc010cqv.2_Splice_Site_p.K448_splice|ALDH3A1_uc002gwk.2_Splice_Site_p.K566_splice	NM_001135168	NP_001128640	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3A1						cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase (NAD) activity|aldehyde dehydrogenase			ovary(1)|pancreas(1)	2	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CCCCCTCTCACCTTGGCCGGG	0.632													4	61					0	0	1	0	0
Unknown	0	broad.mit.edu	37	17	39296152	39296152	+	RNA	SNP	A	G	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr17:39296152A>G	uc010cxk.1	-	1		c.552T>C								Homo sapiens partial mRNA for keratin associated protein 4.6 (KRTAP4.6 gene).																		AGCACAAGGGACGGGGGCAGG	0.507													4	3					0	0	1	0	0
C3	718	broad.mit.edu	37	19	6707865	6707865	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr19:6707865C>T	uc002mfm.2	-	15	1983	c.1921G>A	c.(1921-1923)GAC>AAC	p.D641N		NM_000064	NP_000055	P01024	CO3_HUMAN	complement component 3 precursor	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			skin(3)|ovary(1)|pancreas(1)	5				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGCCCTGCGTCGGAGAAGACA	0.682													21	38					0	0	1	0	0
PDCD2L	84306	broad.mit.edu	37	19	34900075	34900075	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr19:34900075A>G	uc002nvj.2	+	4	379	c.346A>G	c.(346-348)AAC>GAC	p.N116D		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	116						cytoplasm				ovary(1)	1	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAAACAGGGAAACAGCCTTGC	0.522													30	53					0	0	1	0	0
ZAP70	7535	broad.mit.edu	37	2	98354504	98354504	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr2:98354504G>A	uc002syd.1	+	13	1877	c.1670G>A	c.(1669-1671)CGG>CAG	p.R557Q	ZAP70_uc002sye.1_Missense_Mutation_p.R447Q|ZAP70_uc002syf.1_Missense_Mutation_p.R250Q	NM_001079	NP_001070	P43403	ZAP70_HUMAN	zeta-chain 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			lung(4)|upper_aerodigestive_tract(1)|ovary(1)	6						CAGGGCAAGCGGATGGAGTGC	0.607													3	4					0	0	1	0	0
ORC4L	5000	broad.mit.edu	37	2	148716409	148716409	+	Silent	SNP	G	A	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr2:148716409G>A	uc002twi.2	-	5	387	c.252C>T	c.(250-252)CTC>CTT	p.L84L	ORC4L_uc002twj.2_Silent_p.L84L|ORC4L_uc010zbo.1_Silent_p.L10L|ORC4L_uc010zbp.1_Intron|ORC4L_uc010fnr.2_Silent_p.L84L|ORC4L_uc010zbq.1_5'UTR|ORC4L_uc002twk.2_Silent_p.L84L|ORC4L_uc010zbr.1_Silent_p.L84L	NM_181741	NP_859525	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				0				BRCA - Breast invasive adenocarcinoma(221;0.0963)|COAD - Colon adenocarcinoma(177;0.203)		CTATTTCCATGAGTTCTTTCA	0.264													17	18					0	0	1	0	0
ACVR1C	130399	broad.mit.edu	37	2	158443697	158443697	+	Splice_Site	SNP	A	G	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr2:158443697A>G	uc002tzk.3	-	2	547	c.304_splice	c.e2+1	p.A102_splice	ACVR1C_uc002tzl.3_Splice_Site_p.G102_splice|ACVR1C_uc010fof.2_Splice_Site_p.D102_splice|ACVR1C_uc010foe.2_Splice_Site_p.A52_splice	NM_145259	NP_660302	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC isoform 1						apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			lung(3)|ovary(2)|skin(2)	7						TAAACCCCTTACCTGTTGGAA	0.348													8	112					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr2:209113112C>T	uc002vcs.2	-	4	641	c.395G>A	c.(394-396)CGT>CAT	p.R132H	IDH1_uc002vct.2_Missense_Mutation_p.R132H|IDH1_uc002vcu.2_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132		Substrate.	R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).		2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	p.R132H(2023)|p.R132C(344)|p.R132?(210)|p.R132G(117)|p.R132S(79)|p.R132L(58)|p.R132V(1)|p.G131_R132>VL(1)		central_nervous_system(2156)|haematopoietic_and_lymphoid_tissue(606)|bone(74)|thyroid(22)|large_intestine(4)|skin(2)|prostate(2)|autonomic_ganglia(1)|soft_tissue(1)	2868				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma 								23	41					0	0	1	0	0
GGTLC1	92086	broad.mit.edu	37	20	23967157	23967157	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr20:23967157A>G	uc002wts.2	-	2	225	c.92T>C	c.(91-93)ATG>ACG	p.M31T	GGTLC1_uc002wtu.2_Missense_Mutation_p.M31T	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	gamma-glutamyltransferase light chain 1	31							gamma-glutamyltransferase activity			ovary(1)	1						GTCATCCGGCATGTAGAACTC	0.622													4	41					0	0	1	0	0
ADNP	23394	broad.mit.edu	37	20	49508437	49508437	+	Silent	SNP	A	G	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr20:49508437A>G	uc002xvt.1	-	5	3159	c.2814T>C	c.(2812-2814)ACT>ACC	p.T938T	ADNP_uc002xvu.1_Silent_p.T938T	NM_015339	NP_056154	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector	938						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			ovary(2)	2						TCAAATGAATAGTTTCGTATT	0.423													13	165					0	0	1	0	0
LOC96610	96610	broad.mit.edu	37	22	22663086	22663086	+	RNA	SNP	T	G	G	rs1054157	by1000genomes	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr22:22663086T>G	uc011aim.1	+	29		c.1859T>G			LOC96610_uc011aiq.1_RNA|LOC96610_uc011aip.1_RNA|LOC96610_uc010gto.2_RNA					Parts of antibodies, mostly variable regions.												0						AGCTGCCACATAAGTTGTCCT	0.299													4	29					0	0	1	0	0
DBR1	51163	broad.mit.edu	37	3	137882319	137882319	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr3:137882319A>C	uc003erv.2	-	7	949	c.813T>G	c.(811-813)CAT>CAG	p.H271Q	DBR1_uc003eru.2_Missense_Mutation_p.H220Q|DBR1_uc003ert.2_Missense_Mutation_p.H39Q	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	debranching enzyme homolog 1	271						nucleus	metal ion binding|RNA lariat debranching enzyme activity				0						CACTGGGGTCATGTTCTATCT	0.318													4	45					0	0	1	0	0
B3GNT5	84002	broad.mit.edu	37	3	182987919	182987919	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr3:182987919G>A	uc003flk.2	+	2	863	c.333G>A	c.(331-333)TGG>TGA	p.W111*	MCF2L2_uc003fli.1_Intron|MCF2L2_uc003flj.1_Intron|MCF2L2_uc011bqr.1_Intron|B3GNT5_uc003fll.2_Nonsense_Mutation_p.W111*|B3GNT5_uc003flm.2_Nonsense_Mutation_p.W111*	NM_032047	NP_114436	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal	111	Lumenal (Potential).				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			ovary(1)	1	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	0.428													26	64					0	0	1	0	0
PRKAA1	5562	broad.mit.edu	37	5	40765101	40765101	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr5:40765101G>A	uc003jmc.2	-	7	1067	c.1061C>T	c.(1060-1062)GCG>GTG	p.A354V	PRKAA1_uc003jmb.2_Missense_Mutation_p.A369V	NM_006251	NP_006242	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic	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	0.438													6	58					0	0	1	0	0
GRIA1	2890	broad.mit.edu	37	5	153026583	153026583	+	Missense_Mutation	SNP	G	A	A	rs138238382		TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr5:153026583G>A	uc003lva.3	+	3	681	c.316G>A	c.(316-318)GTC>ATC	p.V106I	GRIA1_uc003luy.3_Missense_Mutation_p.V106I|GRIA1_uc003luz.3_Missense_Mutation_p.V11I|GRIA1_uc011dcv.1_RNA|GRIA1_uc011dcw.1_Intron|GRIA1_uc011dcx.1_Missense_Mutation_p.V37I|GRIA1_uc011dcy.1_Missense_Mutation_p.V116I|GRIA1_uc011dcz.1_Missense_Mutation_p.V116I|GRIA1_uc010jia.1_Missense_Mutation_p.V86I	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1 isoform	106	Extracellular (Potential).				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			ovary(4)|skin(2)	6		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	0.502													13	107					0	0	1	0	0
MIR133B	442890	broad.mit.edu	37	6	52013825	52013825	+	RNA	SNP	C	T	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr6:52013825C>T	hsa-mir-133b|MI0000822	+			c.105C>T			uc010jzo.2_RNA																	0						GCTGGCAATGCCCAGTCCTTG	0.458													7	27					0	0	1	0	0
COL12A1	1303	broad.mit.edu	37	6	75834890	75834890	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr6:75834890T>C	uc003phs.2	-	40	6726	c.6560A>G	c.(6559-6561)CAA>CGA	p.Q2187R	COL12A1_uc003pht.2_Missense_Mutation_p.Q1023R	NM_004370	NP_004361	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1 long isoform	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			ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						AGAATCATATTGAGCATAAAC	0.413													19	28					0	0	1	0	0
Unknown	0	broad.mit.edu	37	7	29771597	29771597	+	Silent	SNP	A	C	C	rs850084	by1000genomes	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr7:29771597A>C	uc003tai.2	+	3	135	c.15A>C	c.(13-15)GCA>GCC	p.A5A						Homo sapiens DPY-19-like 2 pseudogene 3 (DPY19L2P3) pseudogene mRNA, complete sequence.																		CTACAATGGCAAGCGTGAAGC	0.398													4	62					0	0	1	0	0
GTF2IRD2P1	401375	broad.mit.edu	37	7	72658179	72658179	+	Missense_Mutation	SNP	T	C	C	rs147293416	by1000genomes	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr7:72658179T>C	uc003txs.1	-	13	1733	c.805A>G	c.(805-807)AAA>GAA	p.K269E	FKBP6_uc003twz.2_Intron	NR_002164				RecName: Full=General transcription factor II-I repeat domain-containing protein 2B; AltName: Full=GTF2I repeat domain-containing protein 2B; AltName: Full=Transcription factor GTF2IRD2-beta;												0						cagagtgatttcggatgaatt	0													5	54					0	0	1	0	0
SYBU	55638	broad.mit.edu	37	8	110655043	110655044	+	Missense_Mutation	DNP	GG	AA	AA			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr8:110655043_110655044GG>AA	uc003ynj.3	-	2	305_306	c.142_143CC>TT	c.(142-144)CCT>TTT	p.P48F	SYBU_uc003yni.3_Missense_Mutation_p.P45F|SYBU_uc003ynk.3_Intron|SYBU_uc010mco.2_Missense_Mutation_p.P47F|SYBU_uc003ynl.3_Missense_Mutation_p.P47F|SYBU_uc010mcp.2_Missense_Mutation_p.P48F|SYBU_uc010mcq.2_Missense_Mutation_p.P48F|SYBU_uc003yno.3_Intron|SYBU_uc010mcr.2_Missense_Mutation_p.P48F|SYBU_uc003ynm.3_Missense_Mutation_p.P47F|SYBU_uc003ynn.3_Missense_Mutation_p.P47F|SYBU_uc010mcs.2_Intron|SYBU_uc010mct.2_Missense_Mutation_p.P48F|SYBU_uc010mcu.2_Missense_Mutation_p.P47F|SYBU_uc003ynp.3_Intron|SYBU_uc010mcv.2_Missense_Mutation_p.P48F|uc003ynq.1_5'Flank	NM_001099754	NP_001093224	Q9NX95	SYBU_HUMAN	Golgi-localized syntaphilin-related protein	48	Sufficient for interaction with KIF5B.|Ser-rich.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				ovary(1)	1						CTCAGAGAAAGGAGACTCAGAG	0.554													5	88					0	0	1	0	0
CSMD3	114788	broad.mit.edu	37	8	113277704	113277704	+	Silent	SNP	A	G	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr8:113277704A>G	uc003ynu.2	-	60	9783	c.9624T>C	c.(9622-9624)AAT>AAC	p.N3208N	CSMD3_uc003yns.2_Silent_p.N2410N|CSMD3_uc003ynt.2_Silent_p.N3168N|CSMD3_uc011lhx.1_Silent_p.N3039N	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3 isoform 1	3208	Extracellular (Potential).|Sushi 24.					integral to membrane|plasma membrane				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						TTCTGGAGCCATTCAATTCCA	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			9	113					0	0	1	0	0
TG	7038	broad.mit.edu	37	8	133961128	133961128	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr8:133961128A>T	uc003ytw.2	+	27	5382	c.5341A>T	c.(5341-5343)ACA>TCA	p.T1781S	TG_uc010mdw.2_Missense_Mutation_p.T540S|TG_uc011ljb.1_Missense_Mutation_p.T150S	NM_003235	NP_003226	P01266	THYG_HUMAN	thyroglobulin precursor	1781	Type IIIB.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			ovary(8)|breast(4)|pancreas(1)|central_nervous_system(1)|skin(1)	15	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	0.468													24	173					0	0	1	0	0
Unknown	0	broad.mit.edu	37	9	84675880	84675880	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr9:84675880A>G	uc010mpu.1	-	3	548	c.545T>C	c.(544-546)CTC>CCC	p.L182P		NM_001164339	NP_001157811			hypothetical protein LOC404770																		GAGTTATCAGAGTGGAGTCCC	0.567													15	216					0	0	1	0	0
WWC3	55841	broad.mit.edu	37	X	10085416	10085416	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chrX:10085416G>T	uc004csx.3	+	11	1515	c.1317G>T	c.(1315-1317)CAG>CAT	p.Q439H	WWC3_uc010nds.2_Missense_Mutation_p.Q103H|WWC3_uc010ndt.2_RNA	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	WWC family member 3	439	Ser-rich.									ovary(4)	4						TCCACAAGCAGAGGCGGTCCC	0.672													12	32					7.03913e-09	7.03913e-09	1	1	0
EDA	1896	broad.mit.edu	37	X	68836453	68836453	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chrX:68836453C>T	uc004dxs.2	+	1	543	c.301C>T	c.(301-303)CCC>TCC	p.P101S	EDA_uc004dxr.2_Missense_Mutation_p.P101S|EDA_uc011mpj.1_Missense_Mutation_p.P101S|EDA_uc004dxn.1_Missense_Mutation_p.P101S|EDA_uc004dxm.1_Missense_Mutation_p.P101S|EDA_uc004dxp.1_Missense_Mutation_p.P101S|EDA_uc004dxq.1_Missense_Mutation_p.P101S|EDA_uc004dxl.1_Missense_Mutation_p.P101S	NM_001399	NP_001390	Q92838	EDA_HUMAN	ectodysplasin A isoform EDA-A1	101	Extracellular (Potential).				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			ovary(2)|large_intestine(1)	3						CCCTGACAGCCCCATCACCAG	0.677													26	9					0	0	1	0	0
TXNRD2	10587	broad.mit.edu	37	22	19929320	19929321	+	Frame_Shift_Del	DEL	CC	-	-			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr22:19929320_19929321delCC	uc011ahc.1	-	1	39_40	c.6_7delGG	c.(4-9)GCGGCAfs	p.A2fs	TXNRD2_uc002zql.1_5'UTR|TXNRD2_uc002zqm.1_RNA|TXNRD2_uc002zqn.1_RNA|TXNRD2_uc002zqo.1_RNA|TXNRD2_uc002zqp.1_RNA|TXNRD2_uc002zqr.1_Frame_Shift_Del_p.A2fs|TXNRD2_uc010grv.1_Frame_Shift_Del_p.A2fs|COMT_uc002zqt.2_5'UTR|COMT_uc002zqu.2_5'UTR|COMT_uc002zqv.2_5'UTR|COMT_uc002zqw.2_5'UTR	NM_006440	NP_006431	Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2 precursor	2_3					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			ovary(2)	2	Colorectal(54;0.0993)					ACCGCCATTGCCGCCATCGTCG	0.639													2	4	---	---	---	---					
ATRX	546	broad.mit.edu	37	X	76939957	76939957	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chrX:76939957delT	uc004ecp.3	-	9	1023	c.791delA	c.(790-792)TATfs	p.Y264fs	ATRX_uc004ecq.3_Frame_Shift_Del_p.Y226fs|ATRX_uc004eco.3_Frame_Shift_Del_p.Y49fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.Y225fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.Y264fs|ATRX_uc010nly.1_Frame_Shift_Del_p.Y209fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	264	ADD.|PHD-type; atypical.				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(14)|pancreas(12)|lung(1)|breast(1)|skin(1)|kidney(1)	30					Phosphatidylserine(DB00144)	AATGTAGCAATACCATTGGTT	0.398			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						121	58	---	---	---	---					
