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
ATAD3B	83858	broad.mit.edu	37	1	1421533	1421533	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:1421533G>A	uc001afv.2	+	10	1108	c.1007G>A	c.(1006-1008)AGG>AAG	p.R336K	ATAD3B_uc001afx.2_Missense_Mutation_p.R290K	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	AAA-ATPase  TOB3	336							ATP binding|nucleoside-triphosphatase activity				0	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ATAGCAACCAGGAACACCAAG	0.642000													35	70					0	0	0.074837	0	0
C1orf201	90529	broad.mit.edu	37	1	24727850	24727850	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:24727850C>T	uc001bjc.2	-	2	164	c.29G>A	c.(28-30)CGC>CAC	p.R10H	C1orf201_uc001bja.2_Missense_Mutation_p.A3T|C1orf201_uc001bjb.2_5'UTR|C1orf201_uc001bjd.2_Missense_Mutation_p.R10H|C1orf201_uc001bje.1_Missense_Mutation_p.A3T			Q5TH74	CA201_HUMAN	RecName: Full=UPF0490 protein C1orf201;	10										ovary(1)|breast(1)	2		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)		TTTGCCAGTGCGTTCATTTTT	0.418000													18	22					0	0	0.043863	0	0
C1orf103	55791	broad.mit.edu	37	1	111494470	111494470	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:111494470G>A	uc001eaa.2	-	2	1292	c.1036C>T	c.(1036-1038)CGA>TGA	p.R346*	C1orf103_uc001dzz.2_Intron|C1orf103_uc001eab.2_Intron|C1orf103_uc001eac.1_Intron	NM_018372	NP_060842	Q5T3J3	LRIF1_HUMAN	receptor-interacting factor 1 isoform 1	346					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	protein binding				0		all_cancers(81;1.02e-05)|all_epithelial(167;1.87e-05)|all_lung(203;0.000234)|Lung NSC(277;0.000451)		Lung(183;0.0155)|Colorectal(144;0.0314)|all cancers(265;0.082)|LUSC - Lung squamous cell carcinoma(189;0.0826)|Epithelial(280;0.0891)|COAD - Colon adenocarcinoma(174;0.134)		TTTTTGGATCGCGTCCCACTA	0.353000													49	77					0	0	0.139131	0	0
LOC728989	728989	broad.mit.edu	37	1	146495696	146495696	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:146495696C>T	uc001epd.2	-	3	310	c.236G>A	c.(235-237)GGC>GAC	p.G79D		NR_024442				SubName: Full=cDNA FLJ59595, highly similar to Homo sapiens phosphodiesterase 4D interacting protein, transcript variant 1, mRNA;												0						ATCAATGTGGCCAATGACATG	0.517000													10	26					0	0	0.080935	0	0
CD1B	910	broad.mit.edu	37	1	158298711	158298711	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:158298711C>T	uc001frx.2	-	5	1088	c.980G>A	c.(979-981)CGG>CAG	p.R327Q	CD1B_uc001frw.2_Missense_Mutation_p.R165Q	NM_001764	NP_001755	P29016	CD1B_HUMAN	CD1B antigen precursor	327	Cytoplasmic (Potential).				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			ovary(2)	2	all_hematologic(112;0.0378)					CACAACTCACCGGCGCCTCAT	0.388000													12	47					0	0	0.105934	0	0
UAP1	6675	broad.mit.edu	37	1	162557442	162557442	+	Silent	SNP	C	T	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:162557442C>T	uc001gce.3	+	6	1341	c.1012C>T	c.(1012-1014)CTG>TTG	p.L338L		NM_003115	NP_003106	Q16222	UAP1_HUMAN	UDP-N-acetylglucosamine pyrophosphorylase 1	338					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			ovary(2)|skin(2)|kidney(1)	5	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGTACCATTTCTGAGAGATGT	0.433000													60	165					0	0	0.139131	0	0
DUPD1	338599	broad.mit.edu	37	10	76803657	76803657	+	Nonsense_Mutation	SNP	G	A	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr10:76803657G>A	uc001jwq.1	-	2	319	c.319C>T	c.(319-321)CAG>TAG	p.Q107*		NM_001003892	NP_001003892	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase	107	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)	2	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCGTGGTACTGGATGTCCATG	0.642000													35	51					0	0	0.074837	0	0
HPS6	79803	broad.mit.edu	37	10	103826085	103826085	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr10:103826085T>G	uc001kuj.2	+	1	939	c.854T>G	c.(853-855)TTC>TGC	p.F285C		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome-6	285						cytosol|early endosome membrane|endoplasmic reticulum|microsome					0		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TTGCTTGACTTCGGGGGCACT	0.682000									Hermansky-Pudlak_syndrome				18	36					0	0	0.043863	0	0
CCKBR	887	broad.mit.edu	37	11	6292262	6292262	+	Missense_Mutation	SNP	G	A	A	rs145313566		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:6292262G>A	uc001mcp.2	+	5	1026	c.833G>A	c.(832-834)CGT>CAT	p.R278H	CCKBR_uc001mcq.2_Missense_Mutation_p.R206H|CCKBR_uc001mcr.2_Missense_Mutation_p.R278H|CCKBR_uc001mcs.2_Missense_Mutation_p.R347H|CCKBR_uc001mct.1_RNA	NM_176875	NP_795344	P32239	GASR_HUMAN	cholecystokinin B receptor	278	Cytoplasmic (Potential).				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.R278H(1)		lung(5)|ovary(2)|breast(1)	8		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	CAGAACGGGCGTTGCCGGCCT	0.662000													4	51					0	0	0.014758	0	0
PHF21A	51317	broad.mit.edu	37	11	45959824	45959824	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:45959824T>C	uc001ncc.3	-	15	2113	c.1489A>G	c.(1489-1491)AGT>GGT	p.S497G	PHF21A_uc001ncb.3_Missense_Mutation_p.S451G|PHF21A_uc009ykx.2_Missense_Mutation_p.S451G|PHF21A_uc001nca.1_Missense_Mutation_p.S233G	NM_001101802	NP_001095272	Q96BD5	PF21A_HUMAN	BRAF35/HDAC2 complex isoform a	497	Required for transcriptional repression.|PHD-type.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(1)|skin(1)	2						AACTGGCCACTTTTTCTGCAA	0.403000													26	34					0	0	0.134883	0	0
OR5M3	219482	broad.mit.edu	37	11	56237959	56237959	+	Silent	SNP	G	A	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:56237959G>A	uc010rjk.1	-	1	15	c.15C>T	c.(13-15)ACC>ACT	p.T5T		NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M,	5	Extracellular (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(2)	2	Esophageal squamous(21;0.00448)					CTGTCACATCGGTGAAATTGA	0.313000													19	36					0	0	0.049695	0	0
OR4D6	219983	broad.mit.edu	37	11	59224535	59224535	+	Silent	SNP	G	T	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:59224535G>T	uc010rku.1	+	1	102	c.102G>T	c.(100-102)GTG>GTT	p.V34V		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D,	34	Helical; Name=1; (Potential).				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			ovary(1)	1						TCTTTGCTGTGTATGTAGCAA	0.458000													6	94					8.12818e-05	9.35298e-05	0.029380	1	0
USP35	57558	broad.mit.edu	37	11	77916930	77916930	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:77916930G>A	uc009yva.1	+	7	1486	c.1240G>A	c.(1240-1242)GGG>AGG	p.G414R	USP35_uc001oze.2_Missense_Mutation_p.G170R|USP35_uc001ozc.2_5'UTR|USP35_uc010rsp.1_Intron|USP35_uc001ozd.2_Nonsense_Mutation_p.W23*|USP35_uc001ozf.2_Missense_Mutation_p.G145R	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	ubiquitin specific protease 35	414					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			lung(2)|ovary(1)	3	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCAGCTGCTGGGGCAGGATGC	0.587000													71	89					0	0	0.139131	0	0
TNFRSF1A	7132	broad.mit.edu	37	12	6438610	6438610	+	Silent	SNP	C	T	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr12:6438610C>T	uc001qnu.2	-	10	1517	c.1236G>A	c.(1234-1236)CCG>CCA	p.P412P	TNFRSF1A_uc001qnt.2_Silent_p.P304P|TNFRSF1A_uc010sey.1_Silent_p.P180P|TNFRSF1A_uc010sez.1_Silent_p.P304P|TNFRSF1A_uc009zek.2_Silent_p.P369P	NM_001065	NP_001056	P19438	TNR1A_HUMAN	tumor necrosis factor receptor 1 precursor	412	Death.|Cytoplasmic (Potential).			Missing (in Ref. 5; AAA36756).	apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			lung(2)|skin(1)	3						CCTCGCGCCGCGGCGTGCGCC	0.662000													5	6					0	0	0.014758	0	0
MLL2	8085	broad.mit.edu	37	12	49446390	49446390	+	Silent	SNP	T	C	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr12:49446390T>C	uc001rta.3	-	9	1215	c.1215A>G	c.(1213-1215)CAA>CAG	p.Q405Q		NM_003482	NP_003473	O14686	MLL2_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 2	405	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			kidney(16)|central_nervous_system(12)|lung(4)|skin(4)|ovary(3)|pancreas(2)	41						GTTCCTTGGGTTGCATAGAGG	0.557000			N|F|Mis		medulloblastoma|renal					HNSCC(34;0.089)			12	10					0	0	0.093190	0	0
LRP1	4035	broad.mit.edu	37	12	57547993	57547993	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr12:57547993G>A	uc001snd.2	+	7	1310	c.844G>A	c.(844-846)GTG>ATG	p.V282M	LRP1_uc001snc.1_Missense_Mutation_p.V282M	NM_002332	NP_002323	Q07954	LRP1_HUMAN	low density lipoprotein-related protein 1	282	Extracellular (Potential).				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			ovary(8)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|skin(2)|pancreas(2)	22				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTCTCCAGACGTGGAACAGAT	0.527000													7	156					0	0	0.047766	0	0
AHNAK2	113146	broad.mit.edu	37	14	105409595	105409595	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr14:105409595C>T	uc010axc.1	-	7	12313	c.12193G>A	c.(12193-12195)GAC>AAC	p.D4065N	AHNAK2_uc001ypx.2_Missense_Mutation_p.D3965N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4065						nucleus				ovary(1)	1		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTTGAGGTCCACTTTGGGC	0.602000													93	182					0	0	0.139131	0	0
Unknown	0	broad.mit.edu	37	15	23692250	23692250	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr15:23692250T>C	uc001ywg.1	-	1	141	c.43A>G	c.(43-45)AAA>GAA	p.K15E	uc010ayh.1_RNA					RecName: Full=Golgin subfamily A member 6-like protein 2;																		TTTACCTTTTTCTTGGCCTCA	0.572000													5	1					0	0	0.014758	0	0
SCNN1B	6338	broad.mit.edu	37	16	23382718	23382718	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr16:23382718C>T	uc002dln.2	+	6	1155	c.979C>T	c.(979-981)CCC>TCC	p.P327S		NM_000336	NP_000327	P51168	SCNNB_HUMAN	sodium channel, nonvoltage-gated 1, beta	327	Extracellular (By similarity).				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			ovary(3)|breast(2)|large_intestine(1)|pancreas(1)	7				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GAGGTCATACCCCTTCATCAG	0.602000													14	32					0	0	0.105934	0	0
TP53	7157	broad.mit.edu	37	17	7578226	7578226	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:7578226T>C	uc002gim.2	-	6	817	c.623A>G	c.(622-624)GAC>GGC	p.D208G	TP53_uc002gig.1_Missense_Mutation_p.D208G|TP53_uc002gih.2_Missense_Mutation_p.D208G|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.D76G|TP53_uc010cng.1_Missense_Mutation_p.D76G|TP53_uc002gii.1_Missense_Mutation_p.D76G|TP53_uc010cnh.1_Missense_Mutation_p.D208G|TP53_uc010cni.1_Missense_Mutation_p.D208G|TP53_uc002gij.2_Missense_Mutation_p.D208G|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.D115G|TP53_uc002gio.2_Missense_Mutation_p.D76G|TP53_uc010vug.1_Missense_Mutation_p.D169G	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	208	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		D -> E (in sporadic cancers; somatic mutation).|D -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> Y (in a sporadic cancer; somatic mutation).|D -> N (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|DD -> EY (in a sporadic cancer; somatic mutation).|D -> H (in a sporadic cancer; somatic mutation).|D -> V (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.D208V(12)|p.0?(7)|p.D208E(5)|p.D208G(3)|p.D207fs*6(2)|p.D208N(2)|p.D208fs*1(1)|p.D207_R213delDDRNTFR(1)|p.D208H(1)|p.D208fs*39(1)|p.D208fs*38(1)|p.D207_V216del10(1)|p.D208I(1)|p.K164_P219del(1)|p.D208_V216delDRNTFRHSV(1)|p.D208Y(1)|p.E204_N210delEYLDDRN(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)		AGTGTTTCTGTCATCCAAATA	0.532000		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)			17	32					0	0	0.033300	0	0
TP53	7157	broad.mit.edu	37	17	7579358	7579358	+	Missense_Mutation	SNP	C	G	G	rs11540654		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:7579358C>G	uc002gim.2	-	4	523	c.329G>C	c.(328-330)CGT>CCT	p.R110P	TP53_uc002gig.1_Missense_Mutation_p.R110P|TP53_uc002gih.2_Missense_Mutation_p.R110P|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cnh.1_Missense_Mutation_p.R110P|TP53_uc010cni.1_Missense_Mutation_p.R110P|TP53_uc002gij.2_Missense_Mutation_p.R110P|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.1_Missense_Mutation_p.R71P|TP53_uc010cnk.1_Missense_Mutation_p.R125P	NM_001126112	NP_001119584	P04637	P53_HUMAN	tumor protein p53 isoform a	110	Interaction with HIPK1 (By similarity).||Interaction with WWOX.		R -> G (in a sporadic cancer; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and 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.R110L(24)|p.R110P(8)|p.0?(7)|p.R110fs*13(5)|p.R110C(4)|p.G59fs*23(3)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.F109_R110insXX(1)|p.G105_T125del21(1)|p.R110fs*18(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.R110S(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)		GAAGCCCAGACGGAAACCGTA	0.612000		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)			21	41					0	0	0.055883	0	0
EZH1	2145	broad.mit.edu	37	17	40869993	40869993	+	Splice_Site	SNP	C	A	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:40869993C>A	uc002iaz.2	-	10	1168	c.1023_splice	c.e10+1	p.L341_splice	EZH1_uc002iba.2_Splice_Site_p.L332_splice|EZH1_uc010wgt.1_Splice_Site_p.L271_splice|EZH1_uc010wgu.1_Splice_Site_p.L347_splice|EZH1_uc010wgv.1_Splice_Site_p.L301_splice|EZH1_uc010wgw.1_Splice_Site_p.L202_splice|EZH1_uc010cyp.2_Splice_Site_p.L242_splice|EZH1_uc010cyq.2_Splice_Site_p.L258_splice|EZH1_uc010cys.2_Splice_Site_p.L292_splice|EZH1_uc010cyo.1_Intron|EZH1_uc010cyr.1_Splice_Site	NM_001991	NP_001982	Q92800	EZH1_HUMAN	enhancer of zeste homolog 1						anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			ovary(3)	3		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TAAGAACATACCAGCAAAAGG	0.363000													19	25					1.96292e-10	2.32233e-10	0.055883	1	0
MPO	4353	broad.mit.edu	37	17	56357985	56357985	+	Silent	SNP	G	A	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:56357985G>A	uc002ivu.1	-	1	312	c.135C>T	c.(133-135)CCC>CCT	p.P45P		NM_000250	NP_000241	P05164	PERM_HUMAN	myeloperoxidase	45					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			ovary(2)|large_intestine(1)|pancreas(1)	4					Cefdinir(DB00535)	CACCTTCAGAGGGCTGGGGCG	0.597000													22	51					0	0	0.091800	0	0
CD300LB	124599	broad.mit.edu	37	17	72518906	72518906	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:72518906C>T	uc002jkx.2	-	4	701	c.688G>A	c.(688-690)GAA>AAA	p.E230K		NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	193	Cytoplasmic (Potential).					integral to membrane|plasma membrane	receptor activity			ovary(1)	1						GTCAGAGGTTCGGAGAAGTTC	0.547000													32	47					0	0	0.059317	0	0
PTPRM	5797	broad.mit.edu	37	18	7949178	7949178	+	Splice_Site	SNP	G	A	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr18:7949178G>A	uc002knn.3	+	6	1167	c.664_splice	c.e6-1	p.G222_splice	PTPRM_uc010dkv.2_Splice_Site_p.G222_splice|PTPRM_uc010wzl.1_Splice_Site_p.G9_splice	NM_002845	NP_002836	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M						homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			lung(3)|ovary(2)|central_nervous_system(1)	6		Colorectal(10;0.234)				ACTTGATACAGGGCATTGATG	0.448000													37	50					0	0	0.111260	0	0
DSG1	1828	broad.mit.edu	37	18	28911710	28911710	+	Missense_Mutation	SNP	C	A	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr18:28911710C>A	uc002kwp.2	+	6	776	c.564C>A	c.(562-564)AAC>AAA	p.N188K		NM_001942	NP_001933	Q02413	DSG1_HUMAN	desmoglein 1 preproprotein	188	Extracellular (Potential).|Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			skin(3)|ovary(2)|central_nervous_system(2)	7			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATGAACCGAACAATTTGAACT	0.333000													20	36					1.96292e-10	2.32233e-10	0.055883	1	0
NOL4	8715	broad.mit.edu	37	18	31709958	31709958	+	Silent	SNP	T	C	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr18:31709958T>C	uc010dmi.2	-	2	520	c.291A>G	c.(289-291)CTA>CTG	p.L97L	NOL4_uc002kxr.3_5'UTR|NOL4_uc010xbt.1_Silent_p.L23L|NOL4_uc010dmh.2_Silent_p.L23L|NOL4_uc010xbu.1_Silent_p.L97L|NOL4_uc002kxt.3_Silent_p.L97L|NOL4_uc010xbw.1_5'UTR	NM_003787	NP_003778	O94818	NOL4_HUMAN	nucleolar protein 4	97						nucleolus	RNA binding			ovary(3)	3						GTCGTAAAGATAGCTTCTCAT	0.373000													18	27					0	0	0.038395	0	0
PIK3R2	5296	broad.mit.edu	37	19	18272833	18272833	+	Silent	SNP	C	T	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:18272833C>T	uc002nia.1	+	7	1385	c.873C>T	c.(871-873)CAC>CAT	p.H291H	PIK3R2_uc002nib.1_RNA|PIK3R2_uc010ebi.1_RNA	NM_005027	NP_005018	O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2	291	Rho-GAP.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			lung(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)	6						TTCAGGAACACTTGGAAGAGC	0.612000													28	37					0	0	0.134883	0	0
MLL4	9757	broad.mit.edu	37	19	36216441	36216441	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:36216441G>A	uc010eei.2	+	13	3704	c.3704G>A	c.(3703-3705)CGG>CAG	p.R1235Q		NM_014727	NP_055542	Q9UMN6	MLL4_HUMAN	myeloid/lymphoid or mixed-lineage leukemia 4	1235	PHD-type 1.				chromatin-mediated maintenance of transcription		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(6)|breast(2)|ovary(1)|kidney(1)|skin(1)	11	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GAGGCCGAGCGGCCCCTGCCC	0.597000													86	145					0	0	0.139131	0	0
ZNF567	163081	broad.mit.edu	37	19	37203719	37203719	+	Missense_Mutation	SNP	T	G	G			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:37203719T>G	uc010xtl.1	+	5	395	c.173T>G	c.(172-174)TTG>TGG	p.L58W	ZNF567_uc002oeo.1_Missense_Mutation_p.L58W|ZNF567_uc010xtk.1_Missense_Mutation_p.L58W|ZNF567_uc002oep.3_Missense_Mutation_p.L27W|ZNF567_uc002oeq.1_Missense_Mutation_p.L27W	NM_152603	NP_689816	Q8N184	ZN567_HUMAN	zinc finger protein 567	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATCCTCAAGTTGGAACGAGGA	0.423000													17	30					0	0	0.038395	0	0
ZNF600	162966	broad.mit.edu	37	19	53269430	53269430	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:53269430T>C	uc002qab.3	-	3	1865	c.1579A>G	c.(1579-1581)AAG>GAG	p.K527E		NM_198457	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	527	C2H2-type 14.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding				0				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TCATTACACTTGTAAGGTTTC	0.453000													11	104					0	0	0.080935	0	0
IL1RL1	9173	broad.mit.edu	37	2	102956649	102956649	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr2:102956649G>A	uc002tbu.1	+	4	635	c.364G>A	c.(364-366)GTA>ATA	p.V122I	IL1RL1_uc010ywa.1_Missense_Mutation_p.V5I|IL18R1_uc002tbw.3_Intron|IL1RL1_uc002tbv.2_Missense_Mutation_p.V122I	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1 isoform 1	122	Ig-like C2-type 2.|Extracellular (Potential).				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity			skin(2)|ovary(1)|central_nervous_system(1)	4						GTATTCAACAGTATCTGGATC	0.343000													13	19					0	0	0.093190	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	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	0.393000			Mis		gliobastoma 								25	53					0	0	0.099896	0	0
PTH2R	5746	broad.mit.edu	37	2	209308141	209308141	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr2:209308141G>A	uc002vdb.2	+	6	791	c.578G>A	c.(577-579)AGC>AAC	p.S193N	PTH2R_uc010zjb.1_Missense_Mutation_p.S204N	NM_005048	NP_005039	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor precursor	193	Helical; Name=2; (Potential).					integral to plasma membrane	parathyroid hormone receptor activity			ovary(1)|breast(1)|skin(1)	3				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AGAGCTACAAGCATCTTTGTC	0.403000													26	40					0	0	0.091800	0	0
MACROD2	140733	broad.mit.edu	37	20	15843442	15843442	+	Missense_Mutation	SNP	A	T	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr20:15843442A>T	uc002wou.2	+	9	962	c.698A>T	c.(697-699)AAA>ATA	p.K233I	MACROD2_uc002wot.2_Missense_Mutation_p.K233I|MACROD2_uc002woz.2_5'UTR|MACROD2_uc002wpb.2_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2 isoform 1	233	Macro.										0		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AAAATCTACAAAAAGAAAATG	0.348000													13	28					0	0	0.132662	0	0
TPTE	7179	broad.mit.edu	37	21	10970032	10970032	+	Silent	SNP	G	A	A	rs147186596		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr21:10970032G>A	uc002yip.1	-	6	464	c.96C>T	c.(94-96)ACC>ACT	p.T32T	TPTE_uc002yis.1_RNA|TPTE_uc002yiq.1_Silent_p.T32T|TPTE_uc002yir.1_Silent_p.T32T|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	32					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			ovary(2)|lung(1)|breast(1)|skin(1)	5			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTGCCTCCTCGGTTGCTCCTT	0.398000													28	108					0	0	0.125774	0	0
CECR1	51816	broad.mit.edu	37	22	17684592	17684592	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr22:17684592G>A	uc002zmk.1	-	3	826	c.614C>T	c.(613-615)TCG>TTG	p.S205L	CECR1_uc010gqu.1_Missense_Mutation_p.S205L|CECR1_uc011agi.1_Missense_Mutation_p.S163L|CECR1_uc011agj.1_Missense_Mutation_p.S163L	NM_017424	NP_059120	Q9NZK5	CECR1_HUMAN	cat eye syndrome critical region protein 1	205	Substrate binding.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			ovary(1)	1		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TTCAAATTTCGACCAGACAAC	0.493000													17	27					0	0	0.033300	0	0
C4orf35	85438	broad.mit.edu	37	4	71201800	71201800	+	Silent	SNP	T	C	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr4:71201800T>C	uc003hff.2	+	1	1130	c.1044T>C	c.(1042-1044)AAT>AAC	p.N348N		NM_033122	NP_149113	Q96KC9	CABS1_HUMAN	testis development protein NYD-SP26	348						flagellum	calcium ion binding				0		all_hematologic(202;0.196)				AAACTGATAATACAGAGACTG	0.408000													28	50					0	0	0.099896	0	0
ART3	419	broad.mit.edu	37	4	77018801	77018801	+	Silent	SNP	A	G	G			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr4:77018801A>G	uc003hjo.2	+	4	905	c.786A>G	c.(784-786)CTA>CTG	p.L262L	ART3_uc003hjk.2_Silent_p.L262L|ART3_uc010ija.1_Silent_p.L262L|ART3_uc003hjn.2_Silent_p.L262L|ART3_uc003hjp.2_RNA|ART3_uc010ijb.2_Intron|ART3_uc003hjq.2_Intron|ART3_uc003hjr.2_Silent_p.L232L|ART3_uc010ijc.2_Intron|ART3_uc010ijd.2_Silent_p.L232L	NM_001130016	NP_001123488	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3 isoform a	262					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			ovary(2)	2			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTCAGGACTAAAAACCGAAA	0.323000													18	51					0	0	0.069288	0	0
BMP2K	55589	broad.mit.edu	37	4	79793907	79793907	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr4:79793907C>T	uc003hlk.2	+	13	1914	c.1748C>T	c.(1747-1749)CCA>CTA	p.P583L	BMP2K_uc003hlj.2_Missense_Mutation_p.P583L|BMP2K_uc003hll.2_Missense_Mutation_p.P47L	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	BMP-2 inducible kinase isoform a	583						nucleus	ATP binding|protein serine/threonine kinase activity			lung(1)	1						TCATCACTTCCAGCTCAGGTT	0.448000													34	44					0	0	0.059317	0	0
KLKB1	3818	broad.mit.edu	37	4	187178500	187178500	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr4:187178500G>A	uc003iyy.2	+	14	1777	c.1706G>A	c.(1705-1707)GGG>GAG	p.G569E	KLKB1_uc011clc.1_Missense_Mutation_p.G367E|KLKB1_uc011cld.1_Intron	NM_000892	NP_000883	P03952	KLKB1_HUMAN	plasma kallikrein B1 precursor	569	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			ovary(1)	1		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TATAAAGAAGGGGGAAAAGAT	0.323000													7	153					0	0	0.069234	0	0
Unknown	0	broad.mit.edu	37	5	17354125	17354125	+	RNA	SNP	G	A	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr5:17354125G>A	uc003jfy.2	-	1		c.604C>T			uc003jfz.2_Intron					full-length cDNA clone CS0DC022YF01 of Neuroblastoma Cot 25-normalized of Homo sapiens (human).																		TTCAGGTAATGTGTCTCAATG	0.438000													25	19					0	0	0.099896	0	0
EBF1	1879	broad.mit.edu	37	5	158140057	158140057	+	Silent	SNP	G	A	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr5:158140057G>A	uc010jip.2	-	13	1592	c.1290C>T	c.(1288-1290)CAC>CAT	p.H430H	EBF1_uc011ddw.1_Silent_p.H298H|EBF1_uc011ddx.1_Silent_p.H431H|EBF1_uc003lxl.3_Silent_p.H399H	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	early B-cell factor	430					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	soft_tissue(2)|ovary(1)|central_nervous_system(1)|pancreas(1)	5	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATCCCTGCGTGGACCGAGG	0.557000			T	HMGA2	lipoma								38	37					0	0	0.092188	0	0
FANCE	2178	broad.mit.edu	37	6	35423550	35423550	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr6:35423550G>A	uc003oko.1	+	2	460	c.275G>A	c.(274-276)CGG>CAG	p.R92Q	FANCE_uc010jvw.1_Missense_Mutation_p.R92Q	NM_021922	NP_068741	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	92					DNA repair	nucleoplasm	protein binding			ovary(1)|lung(1)|skin(1)	3						CGATTGCCCCGGATATGCCAG	0.592000			N|F|S			AML|leukemia		Involved_in_tolerance_or_repair_of_DNA_crosslinks	Fanconi_Anemia				47	41					0	0	0.139131	0	0
PREP	5550	broad.mit.edu	37	6	105800884	105800884	+	Nonsense_Mutation	SNP	C	T	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr6:105800884C>T	uc003prc.2	-	7	989	c.786G>A	c.(784-786)TGG>TGA	p.W262*		NM_002726	NP_002717	P48147	PPCE_HUMAN	prolyl endopeptidase	262					proteolysis		serine-type endopeptidase activity			ovary(3)	3		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GGTCACAGTACCAGAGTCGGT	0.383000													5	103					0	0	0.038147	0	0
RPF2	84154	broad.mit.edu	37	6	111346773	111346773	+	Silent	SNP	T	A	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr6:111346773T>A	uc003pun.2	+	10	928	c.909T>A	c.(907-909)ATT>ATA	p.I303I	RPF2_uc003puo.2_Silent_p.I240I|uc003pup.1_5'Flank	NM_032194	NP_115570	Q9H7B2	RPF2_HUMAN	brix domain containing 1	303						nucleolus	protein binding			ovary(2)	2						CAAAAAGAATTAAAAAAAATT	0.368000													5	9					0	0	0.021553	0	0
AKAP9	10142	broad.mit.edu	37	7	91736724	91736724	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr7:91736724C>T	uc003ulg.2	+	48	11759	c.11534C>T	c.(11533-11535)CCA>CTA	p.P3845L	AKAP9_uc003ulf.2_Missense_Mutation_p.P3837L|AKAP9_uc003uli.2_Missense_Mutation_p.P3468L|AKAP9_uc003ulj.2_Missense_Mutation_p.P1615L|AKAP9_uc003ull.2_Missense_Mutation_p.P741L	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	A-kinase anchor protein 9 isoform 2	3849					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			breast(7)|ovary(6)|lung(5)|skin(3)|large_intestine(2)|prostate(2)|central_nervous_system(1)	26	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCCCCTTTACCATTTCAGAAT	0.353000			T	BRAF	papillary thyroid								89	32					0	0	0.139131	0	0
MUC17	140453	broad.mit.edu	37	7	100678206	100678206	+	Missense_Mutation	SNP	C	T	T	rs140475164	byFrequency	TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr7:100678206C>T	uc003uxp.1	+	3	3562	c.3509C>T	c.(3508-3510)ACG>ATG	p.T1170M	MUC17_uc010lho.1_RNA	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	mucin 17 precursor	1170	Extracellular (Potential).|59 X approximate tandem repeats.|17.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity			ovary(14)|skin(8)|breast(3)|lung(2)	27	Lung NSC(181;0.136)|all_lung(186;0.182)					GTCAGCACCACGCTGGTGGTC	0.522000													144	644					0	0	0.139131	0	0
PIK3CG	5294	broad.mit.edu	37	7	106508596	106508596	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr7:106508596C>T	uc003vdv.3	+	2	675	c.590C>T	c.(589-591)GCC>GTC	p.A197V	PIK3CG_uc003vdu.2_Missense_Mutation_p.A197V|PIK3CG_uc003vdw.2_Missense_Mutation_p.A197V	NM_002649	NP_002640	P48736	PK3CG_HUMAN	phosphoinositide-3-kinase, catalytic, gamma	197					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			lung(16)|central_nervous_system(8)|breast(5)|pancreas(3)|stomach(2)|ovary(2)|upper_aerodigestive_tract(1)|skin(1)	38						AAGCTCTACGCCATGCACCCG	0.632000													21	149					0	0	0.062417	0	0
COG5	10466	broad.mit.edu	37	7	106938740	106938740	+	Missense_Mutation	SNP	C	T	T	rs35258567	byFrequency	TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr7:106938740C>T	uc003ved.2	-	12	1778	c.1253G>A	c.(1252-1254)CGT>CAT	p.R418H	COG5_uc003vec.2_Missense_Mutation_p.R418H|COG5_uc003vee.2_Missense_Mutation_p.R418H	NM_181733	NP_859422	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5 isoform	418					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			central_nervous_system(2)|skin(2)	4						ATTATAAAGACGTAATAATTT	0.343000													82	31					0	0	0.139131	0	0
FGF20	26281	broad.mit.edu	37	8	16850596	16850596	+	Silent	SNP	T	C	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:16850596T>C	uc003wxc.1	-	3	754	c.621A>G	c.(619-621)CTA>CTG	p.L207L	FGF20_uc010lsv.1_RNA|FGF20_uc010lsw.1_3'UTR	NM_019851	NP_062825	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	207					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			lung(1)	1				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGTACATCAGTAGGTCCTTGT	0.423000													36	67					0	0	0.124865	0	0
TMEM66	51669	broad.mit.edu	37	8	29923548	29923548	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:29923548T>C	uc003xhs.2	-	5	1134	c.950A>G	c.(949-951)TAT>TGT	p.Y317C	TMEM66_uc003xht.2_Missense_Mutation_p.Y317C|TMEM66_uc003xhu.2_Missense_Mutation_p.Y281C|TMEM66_uc003xhv.2_Missense_Mutation_p.Y145C	NM_016127	NP_057211	Q96BY9	TMM66_HUMAN	transmembrane protein 66 precursor	317						integral to membrane					0				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		ACATACCGAATAGCTGCCCGA	0.473000													5	75					0	0	0.014758	0	0
ZMAT4	79698	broad.mit.edu	37	8	40532420	40532420	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:40532420C>T	uc003xnr.2	-	5	526	c.380G>A	c.(379-381)CGG>CAG	p.R127Q	ZMAT4_uc003xns.2_Intron	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	zinc finger, matrin type 4 isoform a	127						nucleus	DNA binding|zinc ion binding			pancreas(1)|central_nervous_system(1)|skin(1)	3	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			AGTGTCCATCCGTGGGGGCTT	0.527000													56	106					0	0	0.139131	0	0
PKHD1L1	93035	broad.mit.edu	37	8	110493686	110493686	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:110493686G>A	uc003yne.2	+	56	9456	c.9352G>A	c.(9352-9354)GAA>AAA	p.E3118K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	fibrocystin L precursor	3118	Extracellular (Potential).|G8 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CGGTGGCTGGGAAGATAACCC	0.378000										HNSCC(38;0.096)			15	7					0	0	0.146539	0	0
COL22A1	169044	broad.mit.edu	37	8	139791795	139791795	+	Missense_Mutation	SNP	C	T	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:139791795C>T	uc003yvd.2	-	14	2108	c.1661G>A	c.(1660-1662)GGA>GAA	p.G554E		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	554	Pro-rich.|Gly-rich.|Collagen-like 2.				cell adhesion	collagen|cytoplasm	structural molecule activity			ovary(11)|pancreas(1)|skin(1)	13	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCCAGCTCTCCTGGCTCCCC	0.622000										HNSCC(7;0.00092)			20	71					0	0	0.091800	0	0
USP11	8237	broad.mit.edu	37	X	47092455	47092455	+	Missense_Mutation	SNP	G	A	A			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chrX:47092455G>A	uc004dhp.2	+	1	142	c.142G>A	c.(142-144)GCA>ACA	p.A48T		NM_004651	NP_004642	P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	48					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			ovary(1)|lung(1)|central_nervous_system(1)	3						ggcgacggtcgcagcaaatcc	0.378000													5	2					0	0	0.014758	0	0
ATRX	546	broad.mit.edu	37	X	76813076	76813076	+	Missense_Mutation	SNP	T	C	C			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chrX:76813076T>C	uc004ecp.3	-	30	6777	c.6545A>G	c.(6544-6546)AAG>AGG	p.K2182R	ATRX_uc004ecq.3_Missense_Mutation_p.K2144R|ATRX_uc004eco.3_Missense_Mutation_p.K1967R	NM_000489	NP_000480	P46100	ATRX_HUMAN	transcriptional regulator ATRX isoform 1	2182	Helicase C-terminal.				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)	CAGTGACTGCTTAGTTACTTG	0.333000			Mis|F|N		Pancreatic neuroendocrine tumors		ATR-X (alpha thalassemia/mental retardation) syndrome						61	10					0	0	0.139131	0	0
LRRIQ3	127255	broad.mit.edu	37	1	74575212	74575213	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:74575212_74575213insT	uc001dfy.3	-	5	924_925	c.732_733insA	c.(730-735)AAACAGfs	p.K244fs	LRRIQ3_uc001dfz.3_RNA	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	244_245				QQEKII -> TAGKNY (in Ref. 1; BAD18621).						ovary(2)	2						TTTTCCTGCTGTTTTTTTTTGT	0.327													10	65	---	---	---	---					
NOX4	50507	broad.mit.edu	37	11	89106662	89106663	+	Splice_Site	INS	-	A	A	rs56022003		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:89106662_89106663insA	uc001pct.2	-	12	1314	c.1075_splice	c.e12-1	p.C359_splice	NOX4_uc009yvr.2_Splice_Site_p.C334_splice|NOX4_uc001pcu.2_Splice_Site_p.C285_splice|NOX4_uc001pcw.2_Splice_Site_p.C52_splice|NOX4_uc001pcx.2_Splice_Site_p.C52_splice|NOX4_uc001pcv.2_Splice_Site_p.C359_splice|NOX4_uc009yvo.2_Splice_Site|NOX4_uc010rtu.1_Splice_Site_p.C193_splice|NOX4_uc009yvp.2_Intron|NOX4_uc010rtv.1_Splice_Site_p.C335_splice|NOX4_uc009yvq.2_Splice_Site_p.C335_splice	NM_016931	NP_058627	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4 isoform a						cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			ovary(1)|central_nervous_system(1)	2		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AGTTGGACACTAAAAAAAAATA	0.292													7	132	---	---	---	---					
SMOC1	64093	broad.mit.edu	37	14	70442501	70442502	+	Frame_Shift_Del	DEL	TC	-	-			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr14:70442501_70442502delTC	uc001xls.1	+	4	701_702	c.448_449delTC	c.(448-450)TCTfs	p.S150fs	SMOC1_uc001xlt.1_Frame_Shift_Del_p.S150fs	NM_022137	NP_071420	Q9H4F8	SMOC1_HUMAN	secreted modular calcium-binding protein 1	150	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			upper_aerodigestive_tract(1)|pancreas(1)	2				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CAGTGGCTCTTCTGTGCAGAAT	0.525													24	41	---	---	---	---					
BCL11B	64919	broad.mit.edu	37	14	99641544	99641546	+	In_Frame_Del	DEL	CTC	-	-			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr14:99641544_99641546delCTC	uc001yga.2	-	4	1894_1896	c.1627_1629delGAG	c.(1627-1629)GAGdel	p.E543del	BCL11B_uc001ygb.2_In_Frame_Del_p.E472del	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B isoform 1	543	Glu-rich.					nucleus	zinc ion binding			central_nervous_system(8)|large_intestine(1)|lung(1)	10		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCAGTAGCAGctcctcctcctcc	0.517			T	TLX3	T-ALL								2	4	---	---	---	---					
EIF4A1	1973	broad.mit.edu	37	17	7477923	7477923	+	Frame_Shift_Del	DEL	C	-	-			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:7477923delC	uc002gho.1	+	11	1457	c.132delC	c.(130-132)CTCfs	p.L44fs	EIF4A1_uc002ghr.1_Frame_Shift_Del_p.L44fs|EIF4A1_uc002ghq.1_Frame_Shift_Del_p.L44fs|EIF4A1_uc002ghp.1_Frame_Shift_Del_p.L44fs|SNORA48_uc002ghs.1_5'Flank|SNORD10_uc002ght.2_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A	44	Q motif.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			ovary(1)	1						AGTCCCTTCTCCGTGGCATCT	0.478													28	52	---	---	---	---					
SULT1C2	6819	broad.mit.edu	37	2	108921152	108921152	+	Frame_Shift_Del	DEL	A	-	-			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr2:108921152delA	uc002tdy.2	+	5	951	c.498delA	c.(496-498)GGAfs	p.G166fs	SULT1C2_uc010ywp.1_Frame_Shift_Del_p.G81fs|SULT1C2_uc002tdx.2_Frame_Shift_Del_p.G177fs|SULT1C2_uc010ywq.1_Frame_Shift_Del_p.G180fs	NM_001056	NP_001047	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 1	166					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			ovary(1)	1						TCATCAATGGAAAAGGTACGG	0.473													37	74	---	---	---	---					
ZNF454	285676	broad.mit.edu	37	5	178392212	178392221	+	Frame_Shift_Del	DEL	GAAGCCTTTT	-	-			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr5:178392212_178392221delGAAGCCTTTT	uc003mjo.1	+	5	1078_1087	c.807_816delGAAGCCTTTT	c.(805-816)GAGAAGCCTTTTfs	p.E269fs	ZNF454_uc010jkz.1_Frame_Shift_Del_p.E269fs	NM_182594	NP_872400	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	269_272	C2H2-type 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)|lung(1)	3	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		ATACTGGAGAGAAGCCTTTTGAATGCAACT	0.395													24	68	---	---	---	---					
KCNQ3	3786	broad.mit.edu	37	8	133150232	133150233	+	Frame_Shift_Ins	INS	-	T	T			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08									Somatic	Phase_I	Capture				Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:133150232_133150233insT	uc003ytj.2	-	12	1824_1825	c.1599_1600insA	c.(1597-1602)AAATTCfs	p.K533fs	KCNQ3_uc010mdt.2_Frame_Shift_Ins_p.K533fs	NM_004519	NP_004510	O43525	KCNQ3_HUMAN	potassium voltage-gated channel KQT-like protein	533_534					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			ovary(2)|breast(1)|central_nervous_system(1)|skin(1)	5	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GTCTCCTTGAATTTTTTTTTAT	0.455													9	282	---	---	---	---					
