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	isArtifactMode	oxoGCut
CAMTA1	23261	broad.mit.edu	37	1	7812556	7812556	+	Nonsense_Mutation	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr1:7812556C>T	uc001aoi.2	+	21	5128	c.4921C>T	c.(4921-4923)CGA>TGA	p.R1641*	CAMTA1_uc001aok.3_Nonsense_Mutation_p.R684*|CAMTA1_uc001aoj.2_Nonsense_Mutation_p.R604*|CAMTA1_uc009vmf.2_Nonsense_Mutation_p.R231*	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	calmodulin-binding transcription activator 1	1641					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			ovary(5)|central_nervous_system(2)|breast(1)|pancreas(1)	9	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCAAGCTGCTCGAAAAATAAT	0.423		NA											11	11					0	0	0	0
KIAA1522	57648	broad.mit.edu	37	1	33236052	33236052	+	Silent	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr1:33236052C>T	uc001bvv.2	+	6	1231	c.1095C>T	c.(1093-1095)ACC>ACT	p.T365T	KIAA1522_uc001bvu.1_Silent_p.T424T|KIAA1522_uc010ohm.1_Silent_p.T376T|KIAA1522_uc010ohn.1_Intron	NM_020888	NP_065939	Q9P206	K1522_HUMAN	hypothetical protein LOC57648	365	Ser-rich.										0		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCTCCGACACCATTGTGTCTG	0.652		NA											12	17					0	0	0	0
KIAA0754	643314	broad.mit.edu	37	1	39879079	39879079	+	Missense_Mutation	SNP	A	A	C			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr1:39879079A>C	uc009vvt.1	+	1	3904	c.3142A>C	c.(3142-3144)ACC>CCC	p.T1048P	MACF1_uc010ois.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdc.1_Intron|MACF1_uc010oiu.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	hypothetical protein LOC643314	912	Ala-rich.|3.										0	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCAGTGCCCACCCCAGAGGA	0.726		NA											2	5					0	0	0	0
DYRK3	8444	broad.mit.edu	37	1	206822243	206822243	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr1:206822243C>G	uc001hej.2	+	3	1868	c.1700C>G	c.(1699-1701)GCT>GGT	p.A567G	DYRK3_uc001hek.2_Intron|DYRK3_uc001hei.2_Missense_Mutation_p.A547G	NM_003582	NP_003573	O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation	567					erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			stomach(2)|central_nervous_system(1)	3	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			AAGCTTAAAGCTAACTTAATG	0.438		NA											24	41					0	0	0	0
SPATA17	128153	broad.mit.edu	37	1	217955575	217955575	+	Silent	SNP	G	G	A	rs139943258	by1000genomes	TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr1:217955575G>A	uc001hlh.1	+	8	809	c.783G>A	c.(781-783)ACG>ACA	p.T261T	SPATA17_uc009xdr.1_RNA|SPATA17_uc001hli.2_Silent_p.T261T	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	261						cytoplasm	calmodulin binding			pancreas(1)	1				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		TGGAGCCAACGTTGCGGGTGG	0.448		NA											20	39					0	0	0	0
SNAP47	116841	broad.mit.edu	37	1	227968341	227968341	+	Silent	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr1:227968341C>T	uc001hrf.2	+	5	1776	c.1362C>T	c.(1360-1362)GAC>GAT	p.D454D	SNAP47_uc001hra.2_Silent_p.D212D	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	synaptosomal-associated protein, 47kDa	454	t-SNARE coiled-coil homology 2.					endomembrane system|membrane|perinuclear region of cytoplasm				ovary(1)	1						TGACCATCGACAAGCACAACA	0.622		NA											13	19					0	0	0	0
PLAU	5328	broad.mit.edu	37	10	75673068	75673068	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr10:75673068G>A	uc001jwa.2	+	6	535	c.389G>A	c.(388-390)CGA>CAA	p.R130Q	C10orf55_uc001jvz.1_Intron|PLAU_uc010qkw.1_Missense_Mutation_p.R113Q|PLAU_uc010qkx.1_Missense_Mutation_p.R44Q|PLAU_uc001jwb.2_RNA|PLAU_uc001jwc.2_Missense_Mutation_p.R130Q|PLAU_uc009xrq.1_Missense_Mutation_p.R94Q	NM_002658	NP_002649	P00749	UROK_HUMAN	plasminogen activator, urokinase isoform 1	130	Kringle.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(2)|kidney(1)	3	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	AACCGGAGGCGACCCTGGTGC	0.572		NA											44	61					0	0	0	0
GRK5	2869	broad.mit.edu	37	10	121156223	121156223	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr10:121156223C>T	uc001led.2	+	4	511	c.278C>T	c.(277-279)ACT>ATT	p.T93I	GRK5_uc009xzh.2_5'UTR|GRK5_uc010qta.1_5'UTR	NM_005308	NP_005299	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	93	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			lung(2)|stomach(1)	3		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TATGAAGTTACTCCAGATGAA	0.358		NA											31	36					0	0	0	0
ADAM10	102	broad.mit.edu	37	15	58974499	58974499	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr15:58974499C>T	uc002afd.1	-	3	665	c.221G>A	c.(220-222)CGA>CAA	p.R74Q	ADAM10_uc010bgc.1_RNA|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron|ADAM10_uc002afg.2_Missense_Mutation_p.R74Q	NM_001110	NP_001101	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10 precursor	74	Extracellular (Potential).				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			skin(2)	2				GBM - Glioblastoma multiforme(80;0.202)		CCTCTTCATTCGTAGGTTGAA	0.294		NA											12	31					0	0	0	0
TPSAB1	7177	broad.mit.edu	37	16	1292129	1292129	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr16:1292129C>T	uc002ckz.2	+	6	768	c.716C>T	c.(715-717)GCG>GTG	p.A239V	TPSAB1_uc010uux.1_Missense_Mutation_p.A175V	NM_003294	NP_003285	Q15661	TRYB1_HUMAN	tryptase alpha/beta 1 precursor	239	Peptidase S1.				defense response|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity				0		Hepatocellular(780;0.00369)				TGGCTGCAGGCGGGCGTGGTC	0.672		NA											8	26					0	0	0	0
CREBBP	1387	broad.mit.edu	37	16	3828020	3828020	+	Missense_Mutation	SNP	C	C	G			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr16:3828020C>G	uc002cvv.2	-	10	2309	c.2105G>C	c.(2104-2106)AGA>ACA	p.R702T	CREBBP_uc002cvw.2_Missense_Mutation_p.R664T	NM_004380	NP_004371	Q92793	CBP_HUMAN	CREB binding protein isoform a	702					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(97)|ovary(14)|lung(6)|skin(6)|breast(2)|NS(1)|pancreas(1)	127		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACTTGGAGGTCTCACAGGTTG	0.502		NA	T|N|F|Mis|O	MLL|MORF|RUNXBP2	ALL|AML|DLBCL|B-NHL 		Rubinstein-Taybi syndrome		Rubinstein-Taybi_syndrome				30	131					0	0	0	0
CCDC135	84229	broad.mit.edu	37	16	57734141	57734141	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr16:57734141G>A	uc002emi.2	+	4	552	c.463G>A	c.(463-465)GAC>AAC	p.D155N	CCDC135_uc002emj.2_Missense_Mutation_p.D155N|CCDC135_uc002emk.2_Missense_Mutation_p.D155N	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	155						cytoplasm				central_nervous_system(1)	1						GTTTGTCTCCGACTTCCTCAC	0.567		NA											29	89					0	0	0	0
MYH13	8735	broad.mit.edu	37	17	10204957	10204957	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr17:10204957C>T	uc002gmk.1	-	40	5821	c.5731G>A	c.(5731-5733)GCG>ACG	p.A1911T		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	myosin, heavy polypeptide 13, skeletal muscle	1911	Potential.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			ovary(4)|skin(2)	6						GCCCTCTCCGCGGCCTCCTCT	0.622		NA											36	61					0	0	0	0
SALL3	27164	broad.mit.edu	37	18	76754998	76754998	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr18:76754998C>T	uc002lmt.2	+	2	3007	c.3007C>T	c.(3007-3009)CGG>TGG	p.R1003W	SALL3_uc010dra.2_Intron	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	sal-like 3	1003					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|large_intestine(1)|central_nervous_system(1)	4		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TACTAAGGAGCGGCCATTCGT	0.537		NA											14	37					0	0	0	0
FCAR	2204	broad.mit.edu	37	19	55396849	55396849	+	Silent	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr19:55396849C>T	uc002qhr.1	+	3	470	c.273C>T	c.(271-273)GAC>GAT	p.D91D	FCAR_uc002qhq.2_Silent_p.D91D|FCAR_uc002qhs.1_RNA|FCAR_uc002qht.1_Silent_p.D64D|FCAR_uc010esi.1_Silent_p.D64D|FCAR_uc002qhu.1_Silent_p.D91D|FCAR_uc002qhv.1_Silent_p.D91D|FCAR_uc002qhw.1_Silent_p.D79D|FCAR_uc002qhx.1_Silent_p.D79D|FCAR_uc002qhy.1_Silent_p.D79D|FCAR_uc002qhz.1_Silent_p.D79D|FCAR_uc002qia.1_Intron	NM_002000	NP_001991	P24071	FCAR_HUMAN	Fc alpha receptor isoform a precursor	91	Extracellular (Potential).|Ig-like C2-type 1.				immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			ovary(1)|skin(1)	2				GBM - Glioblastoma multiforme(193;0.0443)		ACCACATGGACGCAAACAAGG	0.483		NA											14	35					0	0	0	0
ATAD2B	54454	broad.mit.edu	37	2	24111244	24111244	+	Silent	SNP	A	A	G			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr2:24111244A>G	uc002rek.3	-	3	688	c.394T>C	c.(394-396)TTA>CTA	p.L132L	ATAD2B_uc010yki.1_RNA|ATAD2B_uc010exx.1_Silent_p.L132L	NM_017552	NP_060022	Q9ULI0	ATD2B_HUMAN	ATPase family, AAA domain containing 2B	132							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATTTGGTAATGTAGCACCA	0.313		NA											2	13					0	0	0	0
SOS1	6654	broad.mit.edu	37	2	39283893	39283893	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr2:39283893G>A	uc002rrk.3	-	4	501	c.460C>T	c.(460-462)CAT>TAT	p.H154Y	SOS1_uc010ynr.1_RNA	NM_005633	NP_005624	Q07889	SOS1_HUMAN	son of sevenless homolog 1	154					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			ovary(4)|breast(3)|lung(2)|central_nervous_system(1)	10		all_hematologic(82;0.21)				ATTTCATAATGCCGTATATTT	0.313		NA							Noonan_syndrome				68	133					0	0	0	0
DQX1	165545	broad.mit.edu	37	2	74746713	74746713	+	Silent	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr2:74746713C>T	uc010yrw.1	-	10	1941	c.1776G>A	c.(1774-1776)CAG>CAA	p.Q592Q	DQX1_uc002smc.2_Silent_p.Q153Q	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	DEAQ box polypeptide 1 (RNA-dependent ATPase)	592						nucleus	ATP binding|helicase activity|nucleic acid binding			ovary(2)	2						CCAGTGCTTTCTGAAGGTCTC	0.483		NA											42	68					0	0	0	0
OBSL1	23363	broad.mit.edu	37	2	220432968	220432968	+	Missense_Mutation	SNP	A	A	C			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr2:220432968A>C	uc010fwk.2	-	2	1148	c.1091T>G	c.(1090-1092)GTA>GGA	p.V364G	OBSL1_uc010fwl.1_5'Flank|OBSL1_uc002vmi.2_Missense_Mutation_p.V364G|OBSL1_uc002vmj.2_5'UTR	NM_015311	NP_056126	O75147	OBSL1_HUMAN	obscurin-like 1	364	Ig-like 4.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity				0		Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GGAGTTGGGTACTTTACATTC	0.662		NA									OREG0003988	type=REGULATORY REGION|Gene=OBSL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	9	15					0	0	0	0
SUN5	140732	broad.mit.edu	37	20	31571672	31571672	+	Silent	SNP	G	G	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr20:31571672G>A	uc002wyi.2	-	13	1161	c.1068C>T	c.(1066-1068)CGC>CGT	p.R356R		NM_080675	NP_542406	Q8TC36	SUN5_HUMAN	sperm associated antigen 4-like	356	SUN.				spermatogenesis					skin(1)	1						GCACTCGCACGCGGTACAGGC	0.562		NA											40	75					0	0	0	0
ZCCHC4	29063	broad.mit.edu	37	4	25363860	25363860	+	Silent	SNP	G	G	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr4:25363860G>A	uc003grl.3	+	10	1182	c.1146G>A	c.(1144-1146)CCG>CCA	p.P382P	ZCCHC4_uc003grn.3_Silent_p.P148P	NM_024936	NP_079212	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	382							methyltransferase activity|nucleic acid binding|zinc ion binding			ovary(2)	2		Breast(46;0.0503)				TTTGCTCTCCGTGTCAACGGT	0.338		NA											10	23					0	0	0	0
GFPT2	9945	broad.mit.edu	37	5	179765551	179765551	+	Silent	SNP	G	G	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr5:179765551G>T	uc003mlw.1	-	2	155	c.57C>A	c.(55-57)ATC>ATA	p.I19I		NM_005110	NP_005101	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	19	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			ovary(1)|skin(1)	2	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GGGTTTCGAAGATCTCCTTCC	0.557		NA											16	18					8.6e-14	9.38e-14	1	0
SKIV2L	6499	broad.mit.edu	37	6	31930806	31930806	+	Silent	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr6:31930806C>T	uc003nyn.1	+	13	1730	c.1341C>T	c.(1339-1341)CAC>CAT	p.H447H	SKIV2L_uc011dou.1_Silent_p.H289H|SKIV2L_uc011dov.1_Silent_p.H254H	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like homolog	447	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			ovary(1)|large_intestine(1)|breast(1)|central_nervous_system(1)	4						TACCTGACCACGTTTCTATCA	0.617		NA											17	30					0	0	0	0
ZNF735	730291	broad.mit.edu	37	7	63680365	63680365	+	Silent	SNP	C	C	G			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr7:63680365C>G	uc011kdn.1	+	4	936	c.936C>G	c.(934-936)CTC>CTG	p.L312L		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	zinc finger protein 735	312	C2H2-type 6.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0						CCTCAGCCCTCATTTACCACA	0.433		NA											35	13					0	0	0	0
TRRAP	8295	broad.mit.edu	37	7	98547146	98547146	+	Missense_Mutation	SNP	G	G	A	rs3735363		TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr7:98547146G>A	uc003upp.2	+	35	5083	c.4874G>A	c.(4873-4875)CGC>CAC	p.R1625H	TRRAP_uc011kis.1_Missense_Mutation_p.R1607H|TRRAP_uc003upr.2_Missense_Mutation_p.R1324H	NM_003496	NP_003487	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated	1625					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.R1607H(1)		ovary(9)|large_intestine(8)|central_nervous_system(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(1)|lung(1)|liver(1)	37	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACGGCTGTGCGCCCCGGTTCG	0.637		NA											21	34					0	0	0	0
SERPINE1	5054	broad.mit.edu	37	7	100779013	100779013	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr7:100779013G>A	uc003uxt.2	+	7	1166	c.1018G>A	c.(1018-1020)GTC>ATC	p.V340I	SERPINE1_uc011kkj.1_Missense_Mutation_p.V325I|SERPINE1_uc003uxu.1_3'UTR	NM_000602	NP_000593	P05121	PAI1_HUMAN	plasminogen activator inhibitor-1 isoform 1	340					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			ovary(1)|lung(1)|central_nervous_system(1)	3	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GCCTCTCCACGTCGCGCAGGC	0.582		NA											16	58					0	0	0	0
CNTNAP2	26047	broad.mit.edu	37	7	146741040	146741040	+	Silent	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr7:146741040C>T	uc003weu.1	+	4	960	c.444C>T	c.(442-444)CAC>CAT	p.H148H		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	cell recognition molecule Caspr2 precursor	148	F5/8 type C.|Extracellular (Potential).				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			ovary(9)|central_nervous_system(1)|pancreas(1)	11	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGGTCCGGCACGAATTACAGC	0.423		NA								HNSCC(39;0.1)			29	88					0	0	0	0
ZNF862	643641	broad.mit.edu	37	7	149545305	149545305	+	Silent	SNP	A	A	C			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr7:149545305A>C	uc010lpn.2	+	4	915	c.723A>C	c.(721-723)ATA>ATC	p.I241I	ZNF862_uc003wgm.2_RNA	NM_001099220	NP_001092690	O60290	ZN862_HUMAN	zinc finger protein 862	241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|nucleic acid binding|protein dimerization activity			skin(1)	1						ATTGCCCCATATTCTACCCCC	0.607		NA											8	14					0	0	0	0
DLC1	10395	broad.mit.edu	37	8	12950234	12950234	+	Silent	SNP	G	G	A	rs142586910		TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr8:12950234G>A	uc003wwm.2	-	13	4071	c.3627C>T	c.(3625-3627)AGC>AGT	p.S1209S	DLC1_uc003wwk.1_Silent_p.S772S|DLC1_uc003wwl.1_Silent_p.S806S|DLC1_uc011kxx.1_Silent_p.S698S	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1 isoform 1	1209	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			ovary(3)|pancreas(2)|lung(1)|kidney(1)	7						CTGTGACATCGCTCAGGAAAT	0.562		NA											10	18					0	0	0	0
C8orf73	642475	broad.mit.edu	37	8	144652142	144652142	+	Silent	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr8:144652142C>T	uc010mff.2	-	7	1181	c.1137G>A	c.(1135-1137)ACG>ACA	p.T379T	C8orf73_uc010mfg.1_Missense_Mutation_p.G392S	NM_001100878	NP_001094348	A6NGR9	CH073_HUMAN	hypothetical protein LOC642475	379	Leu-rich.						binding			ovary(1)	1	all_cancers(97;6.49e-11)|all_epithelial(106;4.73e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.014)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGGCCATAGCCGTGAGACGCT	0.657		NA											12	26					0	0	0	0
SPIN1	10927	broad.mit.edu	37	9	91041469	91041469	+	Silent	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr9:91041469C>T	uc010mqj.2	+	2	515	c.15C>T	c.(13-15)TTC>TTT	p.F5F	SPIN1_uc004apy.2_Silent_p.F5F|SPIN1_uc004apz.2_Silent_p.F5F|SPIN1_uc010mqk.2_Silent_p.F5F	NM_006717	NP_006708	Q9Y657	SPIN1_HUMAN	spindlin	5					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding				0						AGACCCCATTCGGAAAGACAC	0.383		NA											11	23					0	0	0	0
FAM47A	158724	broad.mit.edu	37	X	34150181	34150181	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chrX:34150181C>T	uc004ddg.2	-	1	248	c.215G>A	c.(214-216)CGC>CAC	p.R72H		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	72								p.R72H(1)		ovary(4)|central_nervous_system(1)	5						CTCGTCACGGCGACAAACGAG	0.537		NA											28	58					0	0	0	0
FAM47A	158724	broad.mit.edu	37	X	34150220	34150220	+	Missense_Mutation	SNP	C	C	T			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chrX:34150220C>T	uc004ddg.2	-	1	209	c.176G>A	c.(175-177)CGC>CAC	p.R59H		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	hypothetical protein LOC158724	59										ovary(4)|central_nervous_system(1)	5						ACAGCCGTAGCGGAAGTCGTC	0.557		NA											32	47					0	0	0	0
MED12	9968	broad.mit.edu	37	X	70347218	70347218	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chrX:70347218G>A	uc004dyy.2	+	21	3081	c.2882G>A	c.(2881-2883)CGG>CAG	p.R961Q	MED12_uc011mpq.1_Missense_Mutation_p.R961Q|MED12_uc004dyz.2_Missense_Mutation_p.R961Q|MED12_uc004dza.2_Missense_Mutation_p.R808Q|MED12_uc010nla.2_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	mediator complex subunit 12	961			R -> W (in OKS).		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)					GGGATGAACCGGTCCGATGGC	0.522		NA											10	23					0	0	0	0
ODZ1	10178	broad.mit.edu	37	X	123538975	123538975	+	Missense_Mutation	SNP	G	G	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chrX:123538975G>A	uc004euj.2	-	26	5340	c.5276C>T	c.(5275-5277)TCA>TTA	p.S1759L	ODZ1_uc011muj.1_Missense_Mutation_p.S1765L|ODZ1_uc010nqy.2_Missense_Mutation_p.S1766L	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1759	Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						TCCGGGCAATGAGATGTTGCA	0.562		NA											44	83					0	0	0	0
ODZ1	10178	broad.mit.edu	37	X	123556319	123556319	+	Missense_Mutation	SNP	T	T	A			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chrX:123556319T>A	uc004euj.2	-	23	4317	c.4253A>T	c.(4252-4254)AAG>ATG	p.K1418M	ODZ1_uc011muj.1_Missense_Mutation_p.K1424M|ODZ1_uc010nqy.2_Missense_Mutation_p.K1425M	NM_014253	NP_055068	Q9UKZ4	TEN1_HUMAN	odz, odd Oz/ten-m homolog 1 isoform 3	1418	NHL 4.|Extracellular (Potential).				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			ovary(11)|breast(4)|large_intestine(2)|skin(2)|pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	23						AATTGCTACCTTGCTGACCAG	0.532		NA											38	51					0	0	0	0
WAPAL	23063	broad.mit.edu	37	10	88259577	88259580	+	Frame_Shift_Del	DEL	TCTT	TCTT	-			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr10:88259577_88259580delTCTT	uc001kdo.2	-	3	1862_1865	c.1420_1423delAAGA	c.(1420-1425)AAGACAfs	p.K474fs	WAPAL_uc001kdn.2_Frame_Shift_Del_p.K517fs|WAPAL_uc009xsw.2_Frame_Shift_Del_p.K474fs	NM_015045	NP_055860	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog	474_475	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			ovary(1)	1						TTTTTGCTTGTCTTTCTTTCTACT	0.402		NA											25	43	---	---	---	---	NA	NA	NA	NA
CASP5	838	broad.mit.edu	37	11	104879687	104879687	+	Frame_Shift_Del	DEL	T	T	-			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr11:104879687delT	uc010rva.1	-	2	60	c.28delA	c.(28-30)AGGfs	p.R10fs	CASP5_uc010ruz.1_Frame_Shift_Del_p.R23fs|CASP5_uc010rvb.1_Intron|CASP5_uc010rvc.1_Intron|CASP5_uc009yxh.2_Intron|CASP5_uc010rvd.1_Intron	NM_004347	NP_004338	P51878	CASP5_HUMAN	caspase 5 isoform a precursor	10					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			ovary(2)|lung(1)	3		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTCTTACGCCTTTTTTTTTTG	0.388		NA											12	71	---	---	---	---	NA	NA	NA	NA
KNTC1	9735	broad.mit.edu	37	12	123073283	123073283	+	Frame_Shift_Del	DEL	A	A	-			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chr12:123073283delA	uc001ucv.2	+	40	4082	c.3919delA	c.(3919-3921)AAAfs	p.K1307fs	KNTC1_uc010taf.1_Intron	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Rough Deal homolog, centromere/kinetochore	1307					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			ovary(5)|kidney(3)|lung(1)|central_nervous_system(1)	10	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TACATTAGTTAAATCAAGGCA	0.274		NA											2	4	---	---	---	---	NA	NA	NA	NA
USP9X	8239	broad.mit.edu	37	X	41088917	41088919	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-IQ-7631-01A-11D-2078-08	TCGA-IQ-7631-10A-01D-2078-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	b2266f1c-1642-4849-9278-41e827691aa7	20260058-c3b7-4a04-b502-6f8d3c6687f2	g.chrX:41088917_41088919delACA	uc004dfb.2	+	43	7949_7951	c.7316_7318delACA	c.(7315-7320)TACAAC>TAC	p.N2441del	USP9X_uc004dfc.2_In_Frame_Del_p.N2441del	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	ubiquitin specific protease 9, X-linked isoform	2441					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			lung(3)|breast(2)|ovary(1)	6						CAGTACACTTACAACAATTGGTC	0.438		NA											39	56	---	---	---	---	NA	NA	NA	NA