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
SGIP1	84251	broad.mit.edu	37	1	67142747	67142747	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr1:67142747C>T	uc001dcr.2	+	13	924	c.707C>T	c.(706-708)TCG>TTG	p.S236L	SGIP1_uc010opd.1_Missense_Mutation_p.S3L|SGIP1_uc001dcs.2_Missense_Mutation_p.S3L|SGIP1_uc001dct.2_Missense_Mutation_p.S3L|uc010ope.1_5'Flank|SGIP1_uc009wat.2_Missense_Mutation_p.S3L	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting	236	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			ovary(3)	3						AGCATGGAGTCGCCAAAGTTA	0.403000													28	79					0	0	0.006320	0	0
LOC100286793	100286793	broad.mit.edu	37	1	143744445	143744445	+	RNA	SNP	G	A	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr1:143744445G>A	uc001ejp.3	-	1		c.143C>T			LOC100286793_uc001ejr.3_RNA|LOC100286793_uc009whx.2_RNA|LOC100286793_uc009why.2_RNA					Homo sapiens cDNA FLJ39739 fis, clone SMINT2016440.												0						GAgaggaggagaaggaggagg	0.398000													3	3					0	0	0.004672	0	0
TMEM206	55248	broad.mit.edu	37	1	212553255	212553255	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr1:212553255A>G	uc001hjc.3	-	5	788	c.620T>C	c.(619-621)TTC>TCC	p.F207S	TMEM206_uc010pte.1_Missense_Mutation_p.F268S	NM_018252	NP_060722	Q9H813	TM206_HUMAN	transmembrane protein 206	207	Extracellular (Potential).					integral to membrane				breast(1)	1				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		GAACTCCTGGAAAGAAGAGAA	0.498000													28	84					0	0	0.015359	0	0
RET	5979	broad.mit.edu	37	10	43597996	43597996	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr10:43597996C>T	uc001jal.2	+	3	734	c.544C>T	c.(544-546)CCA>TCA	p.P182S	RET_uc001jak.1_Missense_Mutation_p.P182S|RET_uc010qez.1_5'Flank	NM_020975	NP_066124	P07949	RET_HUMAN	ret proto-oncogene isoform a	182	Cadherin.|Extracellular (Potential).				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity			thyroid(404)|adrenal_gland(20)|lung(9)|large_intestine(5)|breast(4)|ovary(4)|central_nervous_system(3)|urinary_tract(1)|NS(1)	451		Ovarian(717;0.0423)			Sunitinib(DB01268)	GAACCGACCCCCAGGCACCTT	0.627000		1	T|Mis|N|F	H4|PRKAR1A|NCOA4|PCM1|GOLGA5|TRIM33|KTN1|TRIM27|HOOK3	medullary thyroid| papillary thyroid|pheochromocytoma	medullary thyroid| papillary thyroid|pheochromocytoma	Hirschsprung disease		Multiple_Endocrine_Neoplasia_type_2B|Multiple_Endocrine_Neoplasia_type_2A|Familial_Medullary_Thyroid_Carcinoma				23	18					0	0	0.014323	0	0
PTEN	5728	broad.mit.edu	37	10	89692830	89692830	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr10:89692830G>A	uc001kfb.2	+	6	1345	c.314G>A	c.(313-315)TGT>TAT	p.C105Y		NM_000314	NP_000305	P60484	PTEN_HUMAN	phosphatase and tensin homolog	105	Phosphatase tensin-type.		C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.C105F(6)|p.C105W(4)|p.R55fs*1(4)|p.C105S(3)|p.?(2)|p.Y27fs*1(2)|p.C105Y(2)|p.Y27_N212>Y(2)|p.C105fs*2(1)|p.C105fs*1(1)|p.C105G(1)|p.C105R(1)|p.F56fs*2(1)|p.P103fs*3(1)		endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAACCCTTTTGTGAAGATCTT	0.373000		31	D|Mis|N|F|S		glioma| prostate|endometrial	harmartoma|glioma| prostate|endometrial			Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			48	45					0	0	0.014410	0	0
EFEMP2	30008	broad.mit.edu	37	11	65635447	65635447	+	Missense_Mutation	SNP	G	A	A	rs142826827		TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr11:65635447G>A	uc001ofy.3	-	10	1249	c.1055C>T	c.(1054-1056)TCG>TTG	p.S352L	EFEMP2_uc001ofz.2_RNA|EFEMP2_uc001oga.2_Missense_Mutation_p.S352L	NM_016938	NP_058634	O95967	FBLN4_HUMAN	EGF-containing fibulin-like extracellular matrix	352					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			ovary(1)	1				READ - Rectum adenocarcinoma(159;0.169)		GCTCCGCTCCGAGGTGATGGT	0.627000													7	97					0	0	0.003080	0	0
AMICA1	120425	broad.mit.edu	37	11	118074285	118074285	+	Silent	SNP	C	G	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr11:118074285C>G	uc001psk.2	-	6	804	c.630G>C	c.(628-630)GGG>GGC	p.G210G	AMICA1_uc001psg.2_Silent_p.G20G|AMICA1_uc001psh.2_Silent_p.G171G|AMICA1_uc009yzw.1_RNA|AMICA1_uc001psi.2_Silent_p.G200G|AMICA1_uc001psj.2_Silent_p.G199G|AMICA1_uc010rxw.1_Silent_p.G171G|AMICA1_uc010rxx.1_Silent_p.G210G|AMICA1_uc001psl.1_Silent_p.G166G	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen	210	Ig-like V-type 2.|Extracellular (Potential).				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				ovary(1)	1	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGAAAATGTCCCCCACCAGGT	0.507000													20	123					0	0	0.010504	0	0
PRB3	5544	broad.mit.edu	37	12	11420458	11420458	+	Splice_Site	SNP	C	T	T	rs28435564		TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr12:11420458C>T	uc001qzs.2	-	3	762	c.724_splice	c.e3+1	p.H242_splice	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3							extracellular region	Gram-negative bacterial cell surface binding			skin(1)	1			OV - Ovarian serous cystadenocarcinoma(49;0.201)			CTTTCCTGGACGAGGTGGGGG	0.612000													6	27					0	0	0.016723	0	0
STAB2	55576	broad.mit.edu	37	12	103984727	103984727	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr12:103984727C>T	uc001tjw.2	+	2	320	c.134C>T	c.(133-135)TCC>TTC	p.S45F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	stabilin 2 precursor	45	Extracellular (Potential).				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			ovary(9)|skin(5)	14						GAGTGCCGATCCTGCGCTCTC	0.423000													24	71					0	0	0.018920	0	0
OLFM4	10562	broad.mit.edu	37	13	53603144	53603144	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr13:53603144G>A	uc001vhl.2	+	1	173	c.173G>A	c.(172-174)CGC>CAC	p.R58H	OLFM4_uc001vhk.1_Missense_Mutation_p.R58H	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	olfactomedin 4 precursor	58	Ser-rich.				cell adhesion	extracellular space				skin(1)	1		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		agctccagccgcagcTTAGGC	0.393000													4	61					0	0	0.009096	0	0
WHAMML1	339005	broad.mit.edu	37	15	23205094	23205094	+	RNA	SNP	G	A	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr15:23205094G>A	uc001yvg.2	-	2		c.701C>T			WHAMML1_uc010ayc.2_RNA|WHAMML1_uc010ayd.2_RNA|WHAMML1_uc010aye.1_RNA	NR_003521				Homo sapiens mRNA; cDNA DKFZp313L2232 (from clone DKFZp313L2232).												0						AGTACTGGAAGAACGTGGTTG	0.373000													3	15					0	0	0.004672	0	0
WHAMML1	339005	broad.mit.edu	37	15	23205108	23205108	+	RNA	SNP	C	T	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr15:23205108C>T	uc001yvg.2	-	2		c.687G>A			WHAMML1_uc010ayc.2_RNA|WHAMML1_uc010ayd.2_RNA|WHAMML1_uc010aye.1_RNA	NR_003521				Homo sapiens mRNA; cDNA DKFZp313L2232 (from clone DKFZp313L2232).												0						GTGGTTGCCACGGTAACTAAT	0.393000													4	13					0	0	0.009096	0	0
Unknown	0	broad.mit.edu	37	16	88620316	88620316	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr16:88620316G>T	uc010vox.1	-	2	314	c.314C>A	c.(313-315)ACG>AAG	p.T105K						RecName: Full=Putative uncharacterized protein C16orf85;																		CAGGGCTGCCGTCTGCAAGCT	0.642000													21	36					1.87028e-06	2.08144e-06	0.012319	1	0
PRPF8	10594	broad.mit.edu	37	17	1585131	1585131	+	Silent	SNP	C	T	T	rs143150486		TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:1585131C>T	uc002fte.2	-	5	750	c.636G>A	c.(634-636)CCG>CCA	p.P212P		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	U5 snRNP-specific protein	212						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			lung(4)|ovary(2)	6				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTCCCTCAACGGCTGGTGGT	0.542000													8	136					0	0	0.003080	0	0
EFNB3	1949	broad.mit.edu	37	17	7611424	7611424	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:7611424C>T	uc002gis.2	+	2	668	c.271C>T	c.(271-273)CGC>TGC	p.R91C		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	ephrin-B3 precursor	91	Extracellular (Potential).				cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			ovary(1)	1		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TCAGGGCCGGCGCTGTGAGGC	0.602000													10	113					0	0	0.008291	0	0
MYH13	8735	broad.mit.edu	37	17	10214497	10214497	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:10214497G>T	uc002gmk.1	-	33	4669	c.4579C>A	c.(4579-4581)CTT>ATT	p.L1527I		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1527	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GCTTCCTGAAGATTCTTGCCA	0.443000													16	49					2.48551e-13	2.81147e-13	0.004990	1	0
CCDC144B	284047	broad.mit.edu	37	17	18455000	18455000	+	RNA	SNP	G	A	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:18455000G>A	uc002gua.3	-	15		c.4000C>T								Homo sapiens cDNA FLJ36492 fis, clone THYMU2018455.											ovary(1)|skin(1)	2						AGTAAGTTGCGTACTGACCTC	0.383000													5	49					0	0	0.004482	0	0
FAM38B	63895	broad.mit.edu	37	18	10691245	10691245	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr18:10691245C>T	uc002kor.3	-	6	999	c.859G>A	c.(859-861)GTC>ATC	p.V287I	FAM38B_uc002koq.2_Missense_Mutation_p.V185I	NM_022068	NP_071351	Q9H5I5	PIEZ2_HUMAN	family with sequence similarity 38, member B	2330	Helical; (Potential).					integral to membrane	ion channel activity			ovary(1)	1						AAGAGGTTGACGTAATTGTAG	0.488000													37	90					0	0	0.027894	0	0
ZNF519	162655	broad.mit.edu	37	18	14106371	14106371	+	Silent	SNP	C	T	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr18:14106371C>T	uc002kst.1	-	3	321	c.168G>A	c.(166-168)GAG>GAA	p.E56E	ZNF519_uc002ksq.1_Intron|ZNF519_uc002ksr.1_Intron|ZNF519_uc010dlm.1_Intron	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	zinc finger protein 519	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						GTATGCCTTGCTCTGGTAAAA	0.333000													15	28					0	0	0.024245	0	0
ICAM5	7087	broad.mit.edu	37	19	10401990	10401990	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr19:10401990C>G	uc002mnu.3	+	2	390	c.325C>G	c.(325-327)CAG>GAG	p.Q109E	ICAM5_uc002mnv.3_5'Flank	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5 precursor	109	Extracellular (Potential).|Ig-like C2-type 1.				cell-cell adhesion	integral to plasma membrane				breast(3)	3			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCGCACACTACAGGCGCGTGG	0.682000													27	56					0	0	0.008361	0	0
CEACAM7	1087	broad.mit.edu	37	19	42190934	42190934	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr19:42190934C>T	uc002ori.1	-	2	285	c.283G>A	c.(283-285)GCA>ACA	p.A95T	CEACAM7_uc010ehx.2_Missense_Mutation_p.A95T|CEACAM7_uc010ehy.1_Missense_Mutation_p.A95T	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion	95	Ig-like V-type.					anchored to membrane|integral to membrane|plasma membrane				ovary(2)	2				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		CCGTTGTGTGCGGGCCCTGGG	0.443000													69	147					0	0	0.014410	0	0
PSG9	5678	broad.mit.edu	37	19	43766011	43766011	+	Splice_Site	SNP	C	T	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr19:43766011C>T	uc002owd.3	-	3	808	c.709_splice	c.e3+1	p.P237_splice	PSG9_uc002owe.3_Splice_Site_p.H237_splice|PSG9_uc010xwm.1_Intron|PSG9_uc002owf.3_Intron|PSG9_uc002owg.2_Splice_Site_p.H237_splice|PSG9_uc002owh.2_Intron	NM_002784	NP_002775	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9						female pregnancy	extracellular region				ovary(1)|skin(1)	2		Prostate(69;0.00682)				AAGATACTCACGGAGGAGATT	0.522000													86	160					0	0	0.014410	0	0
TTN	7273	broad.mit.edu	37	2	179637874	179637874	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr2:179637874G>A	uc010zfg.1	-	33	8041	c.7817C>T	c.(7816-7818)GCG>GTG	p.A2606V	TTN_uc010zfh.1_Missense_Mutation_p.A2560V|TTN_uc010zfi.1_Missense_Mutation_p.A2560V|TTN_uc010zfj.1_Missense_Mutation_p.A2560V|TTN_uc002unb.2_Missense_Mutation_p.A2606V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	titin isoform N2-A	2606							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTTCTCCCGCGTAAAATGT	0.289000													13	36					0	0	0.020292	0	0
CELSR3	1951	broad.mit.edu	37	3	48698353	48698353	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr3:48698353C>T	uc003cul.2	-	1	1996	c.1715G>A	c.(1714-1716)CGG>CAG	p.R572Q	CELSR3_uc003cuf.1_Missense_Mutation_p.R642Q	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	cadherin EGF LAG seven-pass G-type receptor 3	572	Extracellular (Potential).|Cadherin 3.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			ovary(5)|upper_aerodigestive_tract(2)|central_nervous_system(2)|skin(2)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCCTTGTCCCGGTCAGTGGC	0.607000													8	28					0	0	0.004482	0	0
OTOP1	133060	broad.mit.edu	37	4	4214703	4214703	+	Silent	SNP	G	A	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr4:4214703G>A	uc003ghp.1	-	2	462	c.432C>T	c.(430-432)ACC>ACT	p.T144T		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	otopetrin 1	144	Helical; (Potential).				biomineral tissue development	extracellular space|integral to membrane				ovary(2)|central_nervous_system(1)	3				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCAGGATGACGGTAATGACTG	0.388000													16	33					0	0	0.004990	0	0
FBXL7	23194	broad.mit.edu	37	5	15936897	15936897	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr5:15936897T>A	uc003jfn.1	+	4	1559	c.1078T>A	c.(1078-1080)TGC>AGC	p.C360S		NM_012304	NP_036436	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	360	LRR 8.				ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			ovary(2)|lung(1)	3						CATCGCGCACTGCGGCCGGGT	0.677000													4	9					0	0	0.009096	0	0
DMXL1	1657	broad.mit.edu	37	5	118485663	118485663	+	Missense_Mutation	SNP	A	T	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr5:118485663A>T	uc003ksd.2	+	18	4322	c.4141A>T	c.(4141-4143)AGC>TGC	p.S1381C	DMXL1_uc010jcl.1_Missense_Mutation_p.S1381C	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1381										ovary(2)	2		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TGCTAGTGGAAGCACTACCAG	0.453000													17	43					0	0	0.004990	0	0
FBN2	2201	broad.mit.edu	37	5	127800434	127800434	+	Missense_Mutation	SNP	C	T	T	rs148971572	byFrequency	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr5:127800434C>T	uc003kuu.2	-	6	1248	c.809G>A	c.(808-810)CGC>CAC	p.R270H	FBN2_uc003kuv.2_Missense_Mutation_p.R237H|FBN2_uc003kuw.3_Missense_Mutation_p.R270H|FBN2_uc003kux.1_Missense_Mutation_p.R270H	NM_001999	NP_001990	P35556	FBN2_HUMAN	fibrillin 2 precursor	270					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			ovary(8)|large_intestine(4)|pancreas(1)|kidney(1)|skin(1)	15		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGCTCCAGTGCGGATGTTGGG	0.592000													32	59					0	0	0.013726	0	0
HIST1H2AC	8334	broad.mit.edu	37	6	26124693	26124693	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:26124693G>A	uc003ngm.2	+	1	321	c.233G>A	c.(232-234)CGC>CAC	p.R78H	HIST1H2BC_uc003ngk.3_5'Flank|HIST1H2BC_uc003ngl.2_5'Flank|HIST1H2AC_uc003ngn.2_RNA|HIST1H2AC_uc003ngo.2_RNA|HIST1H2AC_uc003ngp.2_Missense_Mutation_p.R78H	NM_003512	NP_003503	Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	78					nucleosome assembly	nucleosome|nucleus	DNA binding				0						AAGAAGACTCGCATCATCCCG	0.652000													42	74					0	0	0.014410	0	0
OR2B3	442184	broad.mit.edu	37	6	29054524	29054524	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:29054524G>A	uc003nlx.2	-	1	567	c.502C>T	c.(502-504)CGC>TGC	p.R168C		NM_001005226	NP_001005226			olfactory receptor, family 2, subfamily B,											skin(1)	1						TGACCACAGCGTGGCATGTTA	0.488000													15	32					0	0	0.020292	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	G	G	rs41559716		TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:29910693A>G	uc003nol.2	+	2	233	c.233A>G	c.(232-234)CAG>CGG	p.Q78R	HLA-G_uc011dmb.1_Intron|HCG4P6_uc003nog.1_Intron|HLA-A_uc010jrq.2_5'UTR|HLA-A_uc003nok.2_5'UTR|HLA-A_uc003non.2_Missense_Mutation_p.Q78R|HLA-A_uc003noo.2_Missense_Mutation_p.Q78R|HLA-A_uc010jrr.2_Missense_Mutation_p.Q78R|HLA-A_uc003nom.2_5'UTR|HLA-A_uc010klp.2_Missense_Mutation_p.Q50R|HLA-A_uc011dmc.1_5'UTR|HLA-A_uc011dmd.1_5'Flank	NM_002116	NP_002107	P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Extracellular (Potential).|Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			upper_aerodigestive_tract(1)|ovary(1)	2						TGGATAGAGCAGGAGGGGCCG	0.657000									Melanoma_Familial_Clustering_of|Lichen_Sclerosis_et_Atrophicus_Familial_Clustering_of|Osteosarcoma_Familial_Clustering_of|Naso-/Oropharyngeal/Laryngeal_Cancer_Familial_Clustering_of	Multiple Myeloma(9;0.094)			5	11					0	0	0.021553	0	0
LYPLA2P1	653639	broad.mit.edu	37	6	33333342	33333342	+	Silent	SNP	G	A	A	rs140475230	by1000genomes	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:33333342G>A	uc003shx.2	-	1	798	c.664C>T	c.(664-666)CTG>TTG	p.L222L		NR_001444				SubName: Full=Lysophospholipase II; Flags: Fragment;												0						GGAGGCAGCAGCTTCTCAAGA	0.562000													3	21					0	0	0.014758	0	0
C6orf138	442213	broad.mit.edu	37	6	47846864	47846864	+	Silent	SNP	G	A	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:47846864G>A	uc011dwm.1	-	3	1750	c.1665C>T	c.(1663-1665)ATC>ATT	p.I555I	C6orf138_uc011dwn.1_Silent_p.I319I	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN	hypothetical protein LOC442213	572						integral to membrane	hedgehog receptor activity			central_nervous_system(1)	1						GCAGGACACTGATGAAGTCAC	0.428000													9	19					0	0	0.004482	0	0
SYNE1	23345	broad.mit.edu	37	6	152783987	152783987	+	Silent	SNP	T	C	C			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:152783987T>C	uc010kiw.2	-	20	2738	c.2136A>G	c.(2134-2136)GAA>GAG	p.E712E	SYNE1_uc003qot.3_Silent_p.E719E|SYNE1_uc003qou.3_Silent_p.E712E|SYNE1_uc010kjb.1_Silent_p.E695E|SYNE1_uc003qpa.1_Silent_p.E712E|SYNE1_uc003qow.2_Silent_p.E7E|SYNE1_uc003qox.1_Silent_p.E228E|SYNE1_uc003qoz.2_Silent_p.E144E|SYNE1_uc003qoy.2_Silent_p.E279E	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	712	Cytoplasmic (Potential).				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding			central_nervous_system(15)|upper_aerodigestive_tract(9)|ovary(8)|skin(6)|large_intestine(5)|pancreas(2)	45		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGTCTGTGTATTCCTTCTTCA	0.433000										HNSCC(10;0.0054)			14	60					0	0	0.024245	0	0
ARID1B	57492	broad.mit.edu	37	6	157454205	157454205	+	Nonsense_Mutation	SNP	T	A	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:157454205T>A	uc003qqn.2	+	7	2354	c.2202T>A	c.(2200-2202)TAT>TAA	p.Y734*	ARID1B_uc003qqo.2_Nonsense_Mutation_p.Y747*|ARID1B_uc003qqp.2_Nonsense_Mutation_p.Y734*|ARID1B_uc003qqq.1_Nonsense_Mutation_p.Y176*	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	792					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			ovary(1)|breast(1)	2		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGGCTCAGTATGGACCTCAAC	0.463000													25	36					0	0	0.006320	0	0
COBL	23242	broad.mit.edu	37	7	51287614	51287614	+	Silent	SNP	T	G	G	rs145775268	by1000genomes	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr7:51287614T>G	uc003tpr.3	-	2	254	c.69A>C	c.(67-69)CCA>CCC	p.P23P	COBL_uc003tps.2_Silent_p.P23P|COBL_uc011kcl.1_Silent_p.P23P|COBL_uc010kzc.2_Silent_p.P23P|COBL_uc003tpt.2_Silent_p.P23P	NM_015198	NP_056013	O75128	COBL_HUMAN	cordon-bleu homolog	23	Poly-Pro.									skin(3)|ovary(2)	5	Glioma(55;0.08)					TTCCAGGAGGTGGGGGAGCAC	0.552000													6	36					0	0	0.004482	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121684517	121684517	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr7:121684517A>G	uc003vjy.2	+	23	6374	c.5979A>G	c.(5977-5979)ATA>ATG	p.I1993M	PTPRZ1_uc003vjz.2_Missense_Mutation_p.I1126M|PTPRZ1_uc011knt.1_Missense_Mutation_p.I583M	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type,	1993	Cytoplasmic (Potential).				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			ovary(3)|large_intestine(2)|lung(2)|central_nervous_system(1)|kidney(1)	9						TTGAGGCCATACTTAGTAAAG	0.393000													32	87					0	0	0.017118	0	0
FLJ10661	286042	broad.mit.edu	37	8	8094763	8094763	+	RNA	SNP	T	C	C	rs2980437	by1000genomes	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr8:8094763T>C	uc011kwt.1	+	7		c.992T>C			FLJ10661_uc010lrq.2_RNA|FLJ10661_uc003wsf.3_RNA	NR_024362				Homo sapiens cDNA FLJ60033 complete cds, highly similar to Protein FAM86A.												0						CTGTCCGCAATTGAGAGACGT	0.632000													3	38					0	0	0.004672	0	0
GDF6	392255	broad.mit.edu	37	8	97157718	97157718	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr8:97157718C>G	uc003yhp.2	-	2	541	c.441G>C	c.(439-441)AAG>AAC	p.K147N		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	growth differentiation factor 6 precursor	147					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			ovary(1)|breast(1)|pancreas(1)	3	Breast(36;2.67e-05)					CAAACAAATACTTCTGTCTCC	0.562000													13	29					0	0	0.024245	0	0
GLIS3	169792	broad.mit.edu	37	9	4118007	4118007	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr9:4118007C>T	uc003zhw.1	-	3	1200	c.1006G>A	c.(1006-1008)GGG>AGG	p.G336R	GLIS3_uc003zhx.1_Missense_Mutation_p.G491R|GLIS3_uc003zic.1_Missense_Mutation_p.G491R|GLIS3_uc003zie.1_Missense_Mutation_p.G491R|GLIS3_uc010mhh.1_Missense_Mutation_p.G366R|GLIS3_uc003zid.1_Missense_Mutation_p.G269R|GLIS3_uc010mhi.1_Missense_Mutation_p.G298R|GLIS3_uc003zif.1_Missense_Mutation_p.G269R|GLIS3_uc003zig.1_Missense_Mutation_p.G335R|GLIS3_uc003zih.1_Missense_Mutation_p.G269R|GLIS3_uc003zhy.1_Missense_Mutation_p.G269R|GLIS3_uc003zhz.1_Missense_Mutation_p.G269R|GLIS3_uc003zib.1_Missense_Mutation_p.G335R|GLIS3_uc010mhg.1_Missense_Mutation_p.G269R	NM_152629	NP_689842	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3 isoform b	336					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			ovary(1)	1		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TCCATCTCCCCGTCGTCGTCC	0.637000													6	58					0	0	0.021553	0	0
PGM5	5239	broad.mit.edu	37	9	71098810	71098810	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr9:71098810C>T	uc004agr.2	+	9	1554	c.1325C>T	c.(1324-1326)ACG>ATG	p.T442M		NM_021965	NP_068800	Q15124	PGM5_HUMAN	phosphoglucomutase 5	442					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			ovary(1)|pancreas(1)	2						GATCCCAAGACGACATATTAT	0.512000													10	44					0	0	0.008291	0	0
OR1L8	138881	broad.mit.edu	37	9	125330525	125330525	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr9:125330525C>T	uc004bmp.1	-	1	232	c.232G>A	c.(232-234)GTT>ATT	p.V78I		NM_001004454	NP_001004454	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L,	78	Helical; Name=2; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)|central_nervous_system(1)	3						TTGGGGACAACGCTTGTTGTA	0.453000													23	44					0	0	0.014323	0	0
MXRA5	25878	broad.mit.edu	37	X	3229518	3229518	+	Silent	SNP	C	T	T			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:3229518C>T	uc004crg.3	-	7	6883	c.6726G>A	c.(6724-6726)CCG>CCA	p.P2242P		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	adlican precursor	2242	Ig-like C2-type 7.					extracellular region				ovary(5)|lung(1)|central_nervous_system(1)|skin(1)	8		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAATCTTGGCCGGTTTCATCA	0.517000													30	104					0	0	0.012213	0	0
MED12	9968	broad.mit.edu	37	X	70351408	70351408	+	Missense_Mutation	SNP	C	A	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:70351408C>A	uc004dyy.2	+	29	4255	c.4056C>A	c.(4054-4056)GAC>GAA	p.D1352E	MED12_uc011mpq.1_Missense_Mutation_p.D1352E|MED12_uc004dyz.2_Missense_Mutation_p.D1352E|MED12_uc004dza.2_Missense_Mutation_p.D1199E|MED12_uc010nla.2_5'UTR	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	1352					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			ovary(1)|breast(1)|central_nervous_system(1)|skin(1)	4	Renal(35;0.156)					AGAACTTGGACCAGTGGACCA	0.542000													6	49					8.12818e-05	8.9023e-05	0.001984	1	0
IL1RAPL2	26280	broad.mit.edu	37	X	105011344	105011344	+	Missense_Mutation	SNP	T	G	G			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:105011344T>G	uc004elz.1	+	11	2507	c.1751T>G	c.(1750-1752)ATA>AGA	p.I584R		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	584	Cytoplasmic (Potential).				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(2)|ovary(1)	3						CTCCAGCCTATACCCTCTATT	0.463000													30	74					0	0	0.013726	0	0
ARHGEF6	9459	broad.mit.edu	37	X	135862897	135862897	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:135862897T>A	uc004fab.2	-	1	607	c.145A>T	c.(145-147)ATG>TTG	p.M49L		NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor 6	49	CH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity				0	Acute lymphoblastic leukemia(192;0.000127)					GAGCCAGGCATGAGTCTGTTG	0.418000													65	151					0	0	0.014410	0	0
RPS10P7	376693	broad.mit.edu	37	1	201489731	201489731	+	RNA	DEL	G	-	-	rs4915234	by1000genomes	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr1:201489731delG	uc009wzz.1	+	1		c.1901delG								Homo sapiens cDNA FLJ31028 fis, clone HLUNG2000570, weakly similar to 40S RIBOSOMAL PROTEIN S10.												0						AAAAAaaaaagaaagaaagct	0.184													3	5	---	---	---	---					
SFRS8	6433	broad.mit.edu	37	12	132281734	132281736	+	In_Frame_Del	DEL	AGA	-	-			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr12:132281734_132281736delAGA	uc001uja.1	+	16	2686_2688	c.2546_2548delAGA	c.(2545-2550)GAGAAG>GAG	p.K853del	SFRS8_uc010tbn.1_In_Frame_Del_p.K905del	NM_004592	NP_004583	Q12872	SFSWA_HUMAN	splicing factor, arginine/serine-rich 8	853	Poly-Lys.|Arg/Ser-rich (RS domain).				mRNA splice site selection|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|RNA binding				0	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.44e-07)|Epithelial(86;2.94e-06)|all cancers(50;4.82e-05)		AGTCCCCACGAGAAGAAGAAGAA	0.493													7	237	---	---	---	---					
RB1	5925	broad.mit.edu	37	13	48919319	48919320	+	Frame_Shift_Del	DEL	TT	-	-			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr13:48919319_48919320delTT	uc001vcb.2	+	4	650_651	c.484_485delTT	c.(484-486)TTCfs	p.F162fs	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	retinoblastoma 1	162					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(5)|p.F162fs*13(1)		lung(94)|eye(89)|central_nervous_system(47)|bone(22)|breast(21)|urinary_tract(17)|haematopoietic_and_lymphoid_tissue(14)|ovary(10)|prostate(9)|soft_tissue(8)|skin(7)|endometrium(5)|cervix(3)|liver(3)|salivary_gland(2)|stomach(2)|oesophagus(1)|adrenal_gland(1)|kidney(1)|gastrointestinal_tract_(site_indeterminate)(1)|pituitary(1)	358		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTTTGCACTCTTCAGCAAATTG	0.287		6	D|Mis|N|F|S		retinoblastoma|sarcoma|breast|small cell lung	retinoblastoma|sarcoma|breast|small cell lung			Hereditary_Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			39	48	---	---	---	---					
SFXN5	94097	broad.mit.edu	37	2	73227600	73227600	+	Frame_Shift_Del	DEL	T	-	-			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr2:73227600delT	uc002siq.2	-	8	559	c.428delA	c.(427-429)CACfs	p.H143fs	SFXN5_uc002sio.2_Frame_Shift_Del_p.H35fs|SFXN5_uc010yrc.1_5'UTR|SFXN5_uc002sip.2_Intron|SFXN5_uc010fet.2_Frame_Shift_Del_p.H143fs	NM_144579	NP_653180	Q8TD22	SFXN5_HUMAN	sideroflexin 5	143					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			ovary(1)	1						ACAGGCATTGTGGCTCTGGTT	0.587													2	4	---	---	---	---					
NOTCH4	4855	broad.mit.edu	37	6	32180628	32180628	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:32180628delG	uc003obb.2	-	16	2638	c.2499delC	c.(2497-2499)CCCfs	p.P833fs	NOTCH4_uc011dpu.1_RNA|NOTCH4_uc011dpv.1_RNA	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	notch4 preproprotein	833	EGF-like 21.|Extracellular (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			lung(8)|ovary(5)|breast(4)|central_nervous_system(3)|upper_aerodigestive_tract(1)|skin(1)	22						TGTAGCCAGTGGGGCAGAGGC	0.622													2	4	---	---	---	---					
