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	validation_method	t_ref_count	validation_status	validation_tumor_sample	t_alt_count	validation_alt_allele	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
PRAMEF8	391002	broad.mit.edu	37	1	12979789	12979789	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:12979789G>T	uc001aup.3	+	3	1064	c.981G>T	c.(979-981)agG>agT	p.R327S		NM_001012276	NP_001012277	Q5VWM4	PRAM8_HUMAN	Homo sapiens PRAME family member 8 (PRAMEF8), mRNA.	327												Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGACCTGAGGGGTGTCACGC	0.572000														163			9		0.00621372	0.00687475	0.006214	1	0
NSDHL	50814	broad.mit.edu	37	X	152034375	152034375	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chrX:152034375G>A	uc004fgt.1	+	6	817	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	NSDHL_uc004fgs.1_Missense_Mutation_p.A186T	NM_001129765	NP_057006	Q15738	NSDHL_HUMAN	Homo sapiens NAD(P) dependent steroid dehydrogenase-like (NSDHL), transcript variant 2, mRNA.	186					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|binding|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	AGTTCTGGGCGCCAACGATCC	0.582000														89			4		0	0	0.009096	0	0
MFHAS1	9258	broad.mit.edu	37	8	8654899	8654899	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr8:8654899G>A	uc003wsj.1	-	1	3664	c.3101C>T	c.(3100-3102)cCg>cTg	p.P1034L		NM_004225	NP_004216	Q9Y4C4	MFHA1_HUMAN	Homo sapiens malignant fibrous histiocytoma amplified sequence 1 (MFHAS1), mRNA.	1034								p.P1034P(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GATCACAGTCGGCGTGGGTGG	0.557000														26			20		0	0	0.010504	0	0
MMEL1	79258	broad.mit.edu	37	1	2526254	2526254	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:2526254G>T	uc001ajy.2	-	16	1877	c.1663C>A	c.(1663-1665)Ctt>Att	p.L555I	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	555					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TTTTCCCGAAGCTTCCTGAGG	0.627000														68			4		2.56e-06	2.95822e-06	0.009096	1	0
AK057473	0	broad.mit.edu	37	17	20805993	20805993	+	RNA	SNP	A	G	G			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:20805993A>G	uc002gyg.1	+	3		c.1177A>G			AK057473_uc002gyh.1_Non-coding_Transcript					Homo sapiens cDNA FLJ32911 fis, clone TESTI2006210.																		CGAACCCGTGAGAGCAGCGGC	0.632000														0			15		0	0	0.004007	0	0
DNAH17	8632	broad.mit.edu	37	17	76510921	76510921	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:76510921C>T	uc010dhp.2	-	25	4173	c.4048G>A	c.(4048-4050)Gtg>Atg	p.V1350M		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGCTCGCTCACGGCACGCAGG	0.612000														41			27		0	0	0.006320	0	0
PIK3R5	23533	broad.mit.edu	37	17	8789796	8789796	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:8789796C>T	uc002glt.3	-	12	2099	c.2032G>A	c.(2032-2034)Gag>Aag	p.E678K	PIK3R5_uc010vuz.2_Missense_Mutation_p.E678K|PIK3R5_uc021tqc.1_Missense_Mutation_p.E292K|PIK3R5_uc010cob.2_Missense_Mutation_p.E292K|PIK3R5_uc010coa.2_Missense_Mutation_p.E292K|PIK3R5_uc002glu.4_Missense_Mutation_p.E292K	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	678	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGCCTTACCTCGGTCTGATAG	0.667000														52			7		0	0	0.001984	0	0
LYST	1130	broad.mit.edu	37	1	235964233	235964233	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:235964233A>C	uc001hxj.2	-	8	4052	c.3877T>G	c.(3877-3879)Ttt>Gtt	p.F1293V	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Missense_Mutation_p.F1293V	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1293					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAACTCTCAAATACATGGGCA	0.308000														56			3		0	0	0.004672	0	0
SSPO	23145	broad.mit.edu	37	7	149489167	149489167	+	Silent	SNP	G	A	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr7:149489167G>A	uc010lpk.3	+	35	5403	c.5403G>A	c.(5401-5403)caG>caA	p.Q1801Q		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1804	TSP type-1 2.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTGCCCTCAGGACGGCTGCC	0.627000														49			32		0	0	0.019004	0	0
VPS72	6944	broad.mit.edu	37	1	151158055	151158055	+	Silent	SNP	C	T	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:151158055C>T	uc001exe.1	-	2	355	c.312G>A	c.(310-312)ccG>ccA	p.P104P	VPS72_uc001exf.1_Silent_p.P104P	NM_005997	NP_005988	Q15906	VPS72_HUMAN	Homo sapiens vacuolar protein sorting 72 homolog (S. cerevisiae) (VPS72), mRNA.	104					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGCTACCAGCCGGGGTGTTGA	0.498000														194			17		0	0	0.006122	0	0
PHB2	11331	broad.mit.edu	37	12	7077659	7077659	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr12:7077659C>T	uc021quf.1	-	3	602	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	PHB2_uc021qug.1_Missense_Mutation_p.R131Q|PHB2_uc010sft.1_Missense_Mutation_p.R131Q|PHB2_uc010sfu.1_Missense_Mutation_p.R131Q|SCARNA12_uc001qsg.3_5'Flank	NM_007273	NP_001138303	Q99623	PHB2_HUMAN	Homo sapiens prohibitin 2 (PHB2), transcript variant 2, mRNA.	131					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						CGGCAACACTCGTTCCTCGTA	0.567000														38			14		0	0	0.016723	0	0
PCDHAC2	56134	broad.mit.edu	37	5	140181907	140181907	+	Silent	SNP	C	T	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr5:140181907C>T	uc003lhf.2	+	0	1125	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.S375S	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	390	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCGTGTCCGACCGCGACT	0.483000														83			39		0	0	0.006230	0	0
CRISP2	7180	broad.mit.edu	37	6	49663637	49663637	+	Splice_Site	SNP	A	G	G			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr6:49663637A>G	uc003ozn.2	-	9	752	c.516_splice	c.e9-1	p.A172_splice	CRISP2_uc003ozr.2_Splice_Site_p.A172_splice|CRISP2_uc003ozo.2_Splice_Site_p.A172_splice|CRISP2_uc003ozm.2_Splice_Site_p.S207_splice|CRISP2_uc003ozp.2_Splice_Site_p.A172_splice|CRISP2_uc003ozq.2_Splice_Site_p.A172_splice|CRISP2_uc003ozl.2_Splice_Site_p.A172_splice	NM_001142417	NP_003287	P16562	CRIS2_HUMAN	Homo sapiens cysteine-rich secretory protein 2 (CRISP2), transcript variant 4, mRNA.	172						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TATTATTACCACTGAAATTTG	0.348000														25			12		0	0	0.010729	0	0
SLC25A21	89874	broad.mit.edu	37	14	37198737	37198737	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr14:37198737C>T	uc001wtz.2	-	4	615	c.305G>A	c.(304-306)gGa>gAa	p.G102E	SLC25A21_uc021rsf.1_Missense_Mutation_p.G102E	NM_030631	NP_085134	Q9BQT8	ODC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial oxodicarboxylate carrier), member 21 (SLC25A21), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	102					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGACACATATCCCAGCAATTT	0.318000														17			11		0	0	0.013537	0	0
GPR162	27239	broad.mit.edu	37	12	6933476	6933476	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr12:6933476G>A	uc001qqw.1	+	1	947	c.412G>A	c.(412-414)Gtc>Atc	p.V138I	GPR162_uc010sfn.1_Missense_Mutation_p.V138I|GPR162_uc001qqx.1_Intron|GPR162_uc009zfd.1_Intron|GPR162_uc001qqy.1_5'Flank	NM_019858	NP_062832	Q16538	GP162_HUMAN	Homo sapiens G protein-coupled receptor 162 (GPR162), transcript variant A-2, mRNA.	138						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						ACTGCATGCCGTCATGGGCAT	0.612000														118			29		0	0	0.008361	0	0
MUC4	4585	broad.mit.edu	37	3	195505836	195505836	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr3:195505836G>C	uc021xjp.1	-	1	12771	c.12615C>G	c.(12613-12615)caC>caG	p.H4205Q	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	968					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.H4205Q(10)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGGGTGGCGTGACCTGTGG	0.597000														3			2		0	0	0.004672	0	0
C12orf51	283450	broad.mit.edu	37	12	112605691	112605691	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr12:112605691A>C	uc021reb.1	-	70	12233	c.11837T>G	c.(11836-11838)gTg>gGg	p.V3946G		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.									p.V3658G(1)|p.V3908G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CTCCTTACACACCTGCCACAG	0.632000														49			7		0	0	0.021523	0	0
ACSF3	197322	broad.mit.edu	37	16	89180844	89180844	+	Missense_Mutation	SNP	G	A	A	rs150487794	byFrequency	TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr16:89180844G>A	uc010cig.2	+	4	1283	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	ACSF3_uc010cih.2_Missense_Mutation_p.E94K|ACSF3_uc002fmp.3_Missense_Mutation_p.E359K|ACSF3_uc021tmq.1_Missense_Mutation_p.E359K|ACSF3_uc010cii.2_Non-coding_Transcript	NM_001127214	NP_777577	Q4G176	ACSF3_HUMAN	Homo sapiens acyl-CoA synthetase family member 3 (ACSF3), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	359					fatty acid metabolic process	mitochondrion	ATP binding|acid-thiol ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGGCATGACCGAGATCGGCAT	0.637000														94			4		0	0	0.009096	0	0
PTPRZ1	5803	broad.mit.edu	37	7	121651754	121651754	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr7:121651754C>T	uc003vjy.3	+	11	3049	c.2654C>T	c.(2653-2655)gCt>gTt	p.A885V	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	885					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTACTCATGCTGCTTCAGAG	0.473000														53			3		0	0	0.004672	0	0
MYT1	4661	broad.mit.edu	37	20	62839582	62839582	+	Nonsense_Mutation	SNP	G	T	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr20:62839582G>T	uc002yii.3	+	6	1397	c.1033G>T	c.(1033-1035)Gag>Tag	p.E345*	MYT1_uc002yih.3_Intron|MYT1_uc002yij.3_5'UTR	NM_004535	NP_004526	Q01538	MYT1_HUMAN	Homo sapiens myelin transcription factor 1 (MYT1), mRNA.	345					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGTTATTGTGGAGGTCCGCTC	0.577000														98			53		1.19258e-52	1.44219e-52	0.014410	1	0
LRP1B	53353	broad.mit.edu	37	2	141128328	141128328	+	Silent	SNP	A	G	G			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:141128328A>G	uc002tvj.1	-	70	11931	c.10959T>C	c.(10957-10959)gaT>gaC	p.D3653D		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3653	LDL-receptor class A 29.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D3653N(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATGAATTCCATCACACAGCC	0.393000										TSP Lung(27;0.18)				206			6		0	0	0.001984	0	0
CD300LG	146894	broad.mit.edu	37	17	41926022	41926022	+	Missense_Mutation	SNP	G	A	A	rs115182680	by1000genomes	TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:41926022G>A	uc002iem.3	+	1	209	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	CD300LG_uc002iel.2_Missense_Mutation_p.R47Q|CD300LG_uc010czk.3_Missense_Mutation_p.R47Q|CD300LG_uc010wil.2_Missense_Mutation_p.R47Q|CD300LG_uc010czl.3_Missense_Mutation_p.R47Q	NM_145273	NP_660316	Q6UXG3	CLM9_HUMAN	Homo sapiens CD300 molecule-like family member g (CD300LG), transcript variant 1, mRNA.	47	Ig-like V-type.					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGGGACCACCGGAAGTACTGG	0.577000														78			5		0	0	0.014758	0	0
MMS22L	253714	broad.mit.edu	37	6	97597800	97597800	+	Missense_Mutation	SNP	C	G	G			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr6:97597800C>G	uc003ppb.3	-	23	3845	c.3579G>C	c.(3577-3579)ttG>ttC	p.L1193F	MIR548H3_uc021zda.1_Intron|MMS22L_uc011eaf.2_Missense_Mutation_p.L1153F	NM_198468	NP_940870	Q6ZRQ5	MMS22_HUMAN	Homo sapiens MMS22-like, DNA repair protein (MMS22L), mRNA.	1193					double-strand break repair via homologous recombination|replication fork processing	nuclear replication fork	protein binding			breast(1)|endometrium(9)|kidney(2)|large_intestine(12)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGGTAGAAATCAAGTGGATGA	0.408000														45			3		0	0	0.004672	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).		2-oxoglutarate metabolic process|NADPH regeneration|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	cytosol|peroxisomal matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|protein homodimerization activity	p.R132H(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393000			Mis		gliobastoma									32			29		0	0	0.008361	0	0
MTIF2	4528	broad.mit.edu	37	2	55479696	55479696	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:55479696T>C	uc002ryn.3	-	8	1495	c.758A>G	c.(757-759)gAc>gGc	p.D253G	MTIF2_uc010yox.2_Intron|MTIF2_uc002ryo.3_Missense_Mutation_p.D253G	NM_001005369	NP_002444	P46199	IF2M_HUMAN	Homo sapiens mitochondrial translational initiation factor 2 (MTIF2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	253	G-domain.				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity	p.D253N(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TACGACAATGTCAGTGACCTG	0.463000														58			37		0	0	0.010771	0	0
PRKAR1B	5575	broad.mit.edu	37	7	751125	751125	+	Silent	SNP	G	C	C			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr7:751125G>C	uc003siu.2	-	1	151	c.18C>G	c.(16-18)gcC>gcG	p.A6A	PRKAR1B_uc021zyi.1_Silent_p.A6A|PRKAR1B_uc003siv.3_Silent_p.A6A|PRKAR1B_uc021zyj.1_Silent_p.A6A|PRKAR1B_uc021zyk.1_Silent_p.A6A|PRKAR1B_uc003siw.2_Silent_p.A6A	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	6	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CCGAGGGGCAGGCGGGCGGGG	0.647000														63			9		0	0	0.006214	0	0
GOLGA6L5	374650	broad.mit.edu	37	15	85055683	85055683	+	RNA	SNP	C	T	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr15:85055683C>T	uc002bkm.2	-	5		c.877G>A								Homo sapiens golgin A6 family-like 5 (pseudogene) (GOLGA6L5), non-coding RNA.																		CTCCTGTTCACGTAGCCTCTC	0.557000														2			3		0	0	0.004672	0	0
X97876	0	broad.mit.edu	37	9	66500810	66500810	+	RNA	SNP	G	A	A	rs142815546	by1000genomes	TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr9:66500810G>A	uc004aed.1	+	2		c.903G>A								Homo sapiens uncharacterized LOC442421 (LOC442421), non-coding RNA.																		ACCTACGGTCGGTTGTGTGCA	0.637000														30			4		0	0	0.009096	0	0
ZNF138	7697	broad.mit.edu	37	7	64291898	64291898	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr7:64291898C>T	uc011kdq.2	+	2	376	c.200C>T	c.(199-201)aCa>aTa	p.T67I	ZNF138_uc003ttg.3_Missense_Mutation_p.T36I|ZNF138_uc003tth.3_Non-coding_Transcript|ZNF138_uc010kzs.3_Missense_Mutation_p.T61I|ZNF138_uc011kdp.2_3'UTR	NM_006524	NP_006515	B4DP87	B4DP87_HUMAN	Homo sapiens zinc finger protein 138 (ZNF138), transcript variant 1, mRNA.	67					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				CAAAAAGTGACACTGAGCAGA	0.368000														87			15		0	0	0.020292	0	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	71967	71967	+	Silent	SNP	G	A	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chrGL000209.1:71967G>A	uc002qui.2	+	2	128	c.117G>A	c.(115-117)gtG>gtA	p.V39V	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Silent_p.V36V|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Intron|KIR2DL2_uc010evh.1_Intron|KIR2DL2_uc021vdb.1_Intron|KIR2DL2_uc010yie.2_Intron	NM_001083539	NP_001077008	P43627	KI2L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, short cytoplasmic tail, 1 (KIR3DS1), mRNA.	39					regulation of immune response	integral to membrane|plasma membrane	receptor activity										GCGCTGTGGTGCCTCGCGGAG	0.557000														56			4		0	0	0.009096	0	0
CHRM3	1131	broad.mit.edu	37	1	240071460	240071460	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:240071460A>G	uc021plc.1	+	0	709	c.709A>G	c.(709-711)Atc>Gtc	p.I237V	CHRM3_uc001hyp.3_Missense_Mutation_p.I237V	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	237					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGGCACAGCCATCGCTGCTTT	0.453000														114			9		0	0	0.008291	0	0
SNED1	25992	broad.mit.edu	37	2	241989284	241989284	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:241989284G>A	uc002wah.1	+	11	1669	c.1669G>A	c.(1669-1671)Gat>Aat	p.D557N		NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	557	EGF-like 7.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AGGCTCCTGCGATGCCCATGA	0.692000														57			17		0	0	0.008871	0	0
MGAT3	4248	broad.mit.edu	37	22	39883576	39883576	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr22:39883576A>G	uc003axv.4	+	1	463	c.224A>G	c.(223-225)tAc>tGc	p.Y75C	MGAT3_uc010gxy.3_Missense_Mutation_p.Y75C	NM_002409	NP_002400	Q09327	MGAT3_HUMAN	Homo sapiens mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase (MGAT3), transcript variant 1, mRNA.	75	Pro-rich.				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					ACCCCACTCTACTCCCACTCG	0.672000														75			23		0	0	0.012319	0	0
RHOD	29984	broad.mit.edu	37	11	66834308	66834308	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr11:66834308T>C	uc001ojv.3	+	2	405	c.320T>C	c.(319-321)aTc>aCc	p.I107T		NM_014578	NP_055393	O00212	RHOD_HUMAN	Homo sapiens ras homolog gene family, member D (RHOD), mRNA.	107					Rho protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			lung(3)	3						TTTGACAACATCTTTAACCGG	0.607000														90			49		0	0	0.014410	0	0
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	Missense_Mutation	SNP	A	G	G	rs2257765		TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr10:38654432A>G	uc010qex.1	+	4	599	c.524A>G	c.(523-525)aAt>aGt	p.N175S	HSD17B7P2_uc001izq.3_Non-coding_Transcript|HSD17B7P2_uc001izo.1_Non-coding_Transcript|HSD17B7P2_uc001izp.1_Missense_Mutation_p.N173S					Homo sapiens hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2 (HSD17B7P2), non-coding RNA.																		TCATCTCGCAATGCAAGGAAA	0.453000														44			3		0	0	0.004672	0	0
NPIP	9284	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr16:15457701G>A	uc010bvf.1	-	8	812	c.812C>T	c.(811-813)gCt>gTt	p.A271V				Q9UND3	NPIP_HUMAN	RecName: Full=NPIP-like protein 1;	273	Pro-rich.				mRNA transport|protein transport|transmembrane transport	nuclear membrane|nuclear pore		p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562000														151			5		0	0	0.001168	0	0
TP53	7157	broad.mit.edu	37	17	7577105	7577105	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:7577105G>A	uc002gim.2	-	7	1027	c.833C>T	c.(832-834)cCt>cTt	p.P278L	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.P278L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P146L|TP53_uc010cnf.1_Missense_Mutation_p.P146L|TP53_uc002gii.1_Missense_Mutation_p.P146L|TP53_uc010cni.1_Missense_Mutation_p.P278L|TP53_uc010cnh.1_Missense_Mutation_p.P278L|TP53_uc002gij.2_Missense_Mutation_p.P278L|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).		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|Ras protein signal transduction|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 UV|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|determination of adult lifespan|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|regulation of mitochondrial membrane permeability|replicative senescence|response to X-ray|response to antibiotic|response to gamma radiation	PML body|cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|protein complex|replication fork	ATP binding|DNA strand annealing activity|RNA polymerase II transcription factor binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|histone acetyltransferase binding|p53 binding|protease binding|protein N-terminus binding|protein binding|protein heterodimerization activity|protein kinase binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.P278L(119)|p.P278R(58)|p.P278S(53)|p.P278H(25)|p.P278T(22)|p.C277F(22)|p.P278A(20)|p.C277Y(15)|p.0?(8)|p.P278F(7)|p.P278fs*67(7)|p.C277*(7)|p.C277G(5)|p.C277C(4)|p.A276_R283delACPGRDRR(2)|p.V274_P278del(2)|p.P278fs*28(2)|p.L265_K305del41(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.F270_D281del12(2)|p.C277W(2)|p.C277S(2)|p.V272_K292del21(2)|p.C277fs*29(2)|p.A276fs*64(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.P278_G279insXXXXX(1)|p.S269fs*21(1)|p.A276_C277delAC(1)|p.C277R(1)|p.C275fs*20(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTCTCTCCCAGGACAGGCACA	0.552000		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				8			37		0	0	0.015359	0	0
EP400	57634	broad.mit.edu	37	12	132547093	132547093	+	Silent	SNP	A	G	G	rs60608267	by1000genomes	TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr12:132547093A>G	uc001ujn.3	+	46	8333	c.8181A>G	c.(8179-8181)caA>caG	p.Q2727Q	EP400_uc021rgq.1_Silent_p.Q2726Q|EP400_uc001ujm.3_Silent_p.Q2646Q|EP400_uc001ujp.3_5'UTR	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2763	Interaction with ZNF42 (By similarity).				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.Q2726Q(18)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcaacaacagcagcagc	0.567000														45			3		0	0	0.004672	0	0
GALE	2582	broad.mit.edu	37	1	24124673	24124673	+	Silent	SNP	G	A	A			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:24124673G>A	uc009vqo.1	-	3	495	c.285C>T	c.(283-285)ggC>ggT	p.G95G	GALE_uc001bhv.1_Silent_p.G95G|GALE_uc001bhx.1_Silent_p.G95G|GALE_uc001bhz.1_Silent_p.G21G|GALE_uc009vqq.1_3'UTR	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 3, mRNA.	95					galactose catabolic process	cytosol	UDP-glucose 4-epimerase activity|coenzyme binding|protein homodimerization activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GCACCGACTCGCCCACGGCCT	0.557000														44			22		0	0	0.021523	0	0
RERE	473	broad.mit.edu	37	1	8716199	8716200	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:8716199_8716200delCT	uc001ape.3	-	2	967_968	c.157_158delAG	c.(157-159)agtfs	p.S53fs	RERE_uc001apf.3_Frame_Shift_Del_p.S53fs|RERE_uc001aph.1_Frame_Shift_Del_p.S53fs	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	53					NLS-bearing substrate import into nucleus|multicellular organismal development	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ACTGTGATCACTCTCAGCATAA	0.465													---	286	---	---	115	---					
CACNA1S	779	broad.mit.edu	37	1	201047179	201047181	+	In_Frame_Del	DEL	TCT	-	-	rs9333651		TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:201047179_201047181delTCT	uc001gvv.3	-	10	1672_1674	c.1445_1447delAGA	c.(1444-1449)aagatg>atg	p.K482del		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	482					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGCCCGTACATCTTCATCAGCAT	0.571													---	70	---	---	37	---					
OBSL1	23363	broad.mit.edu	37	2	220428315	220428316	+	Frame_Shift_Del	DEL	AT	-	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:220428315_220428316delAT	uc010fwk.3	-	6	2755_2756	c.2441_2442delAT	c.(2440-2442)catfs	p.H814fs	OBSL1_uc010zli.1_5'Flank|OBSL1_uc010fwl.2_Frame_Shift_Del_p.H814fs|OBSL1_uc002vmi.3_Frame_Shift_Del_p.H814fs	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	814	Ig-like 6.				cardiac myofibril assembly	M band|Z disc|intercalated disc|perinuclear region of cytoplasm	cytoskeletal adaptor activity						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)		GCACGAACACATGTTCTCGGGG	0.594													---	99	---	---	67	---					
CCDC6	8030	broad.mit.edu	37	10	61612347	61612349	+	In_Frame_Del	DEL	TTC	-	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr10:61612347_61612349delTTC	uc001jks.4	-	1	647_649	c.415_417delGAA	c.(415-417)gaadel	p.E139del		NM_005436	NP_005427	Q16204	CCDC6_HUMAN	Homo sapiens coiled-coil domain containing 6 (CCDC6), mRNA.	139	5 X 29 AA tandem repeats.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	p.E139delE(2)	CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TAGTGAGGAATTCTTCTTCTTTC	0.360			T	RET	NSCLC								---	65	---	---	31	---					
PCDH9	5101	broad.mit.edu	37	13	67801664	67801665	+	Frame_Shift_Del	DEL	AA	-	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr13:67801664_67801665delAA	uc001vik.3	-	1	1600_1601	c.908_909delTT	c.(907-909)tttfs	p.F303fs	PCDH9_uc001vil.3_Frame_Shift_Del_p.F303fs|PCDH9_uc010thl.2_Frame_Shift_Del_p.F303fs|PCDH9_uc001vin.3_Frame_Shift_Del_p.F303fs	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	303	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TATTTAAAGCAAAGAGTCTTTT	0.465													---	62	---	---	37	---					
MESP2	145873	broad.mit.edu	37	15	90320135	90320146	+	In_Frame_Del	DEL	GGGCAGGGGCAG	-	-	rs56192595	by1000genomes	TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr15:90320135_90320146delGGGCAGGGGCAG	uc002bon.3	+	0	547_558	c.547_558delGGGCAGGGGCAG	c.(547-558)gggcaggggcagdel	p.GQGQ199del	MESP2_uc010uqa.2_Intron	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA.	199	13 X 2 AA tandem repeats of G-Q.				Notch signaling pathway	nucleus	DNA binding	p.Q198_G205delQGQGQGQG(2)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			gcaggggcaagggcaggggcaggggcaggggc	0.783													---	6	---	---	5	---					
ZC3H7A	29066	broad.mit.edu	37	16	11864798	11864799	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr16:11864798_11864799delGA	uc002dbk.3	-	8	1146_1147	c.948_949delTC	c.(946-951)tctcctfs	p.S316fs	ZC3H7A_uc002dbl.3_Frame_Shift_Del_p.S316fs|ZC3H7A_uc002dbm.2_Intron	NM_014153	NP_054872	Q8IWR0	Z3H7A_HUMAN	Homo sapiens zinc finger CCCH-type containing 7A (ZC3H7A), mRNA.	316						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GGCATGCTAGGAGAGACACTGG	0.485													---	80	---	---	29	---					
NF1	4763	broad.mit.edu	37	17	29541467	29541468	+	Splice_Site	DEL	AG	-	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:29541467_29541468delAG	uc002hgg.3	+	13	1776	c.1393_splice	c.e13-1	p.S465_splice	NF1_uc002hge.2_Splice_Site_p.S465_splice|NF1_uc002hgf.2_Splice_Site_p.S465_splice|NF1_uc002hgh.3_Splice_Site_p.S465_splice|NF1_uc010csn.2_Splice_Site_p.S325_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	465					MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTGTTTTTAGAGTCTTACAT	0.292			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			---	21	---	---	11	---					
NF1	4763	broad.mit.edu	37	17	29576134	29576134	+	Frame_Shift_Del	DEL	C	-	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:29576134delC	uc002hgg.3	+	29	4490	c.4107delC	c.(4105-4107)tacfs	p.Y1369fs	NF1_uc002hgh.3_Frame_Shift_Del_p.Y1369fs|NF1_uc010csn.2_Frame_Shift_Del_p.Y1229fs|NF1_uc002hgi.1_Frame_Shift_Del_p.Y402fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1369	Ras-GAP.				MAPKKK cascade|Ras protein signal transduction|actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|metanephros development|myelination in peripheral nervous system|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	Ras GTPase activator activity|protein binding	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACTGTTTATACCAGGTATGCT	0.403			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			---	93	---	---	22	---					
MED13	9969	broad.mit.edu	37	17	60140577	60140579	+	In_Frame_Del	DEL	TCT	-	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:60140577_60140579delTCT	uc002izo.3	-	1	227_229	c.150_152delAGA	c.(148-153)gaagac>gac	p.E50del		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	50					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	RNA polymerase II transcription cofactor activity|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAAAATGGGGTCTTCTTCTGTCA	0.443													---	140	---	---	12	---					
GLTSCR1	29998	broad.mit.edu	37	19	48198169	48198171	+	In_Frame_Del	DEL	ATC	-	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr19:48198169_48198171delATC	uc002phh.4	+	8	3102_3104	c.2908_2910delATC	c.(2908-2910)atcdel	p.I971del	GLTSCR1_uc002phi.4_In_Frame_Del_p.I729del	NM_015711	NP_056526	Q9NZM4	GSCR1_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 1 (GLTSCR1), mRNA.	971							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCCGTCCGGAATCATCCTCCAGA	0.680													---	39	---	---	8	---					
SMARCB1	6598	broad.mit.edu	37	22	24175836	24175837	+	Frame_Shift_Del	DEL	CT	-	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr22:24175836_24175837delCT	uc002zyd.3	+	7	1298_1299	c.1091_1092delCT	c.(1090-1092)actfs	p.T364fs	SMARCB1_uc002zya.3_Intron|SMARCB1_uc002zyb.3_Frame_Shift_Del_p.T355fs|SMARCB1_uc002zyc.3_Frame_Shift_Del_p.T346fs	NM_001007468	NP_001007469	Q12824	SNF5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1 (SMARCB1), transcript variant 2, mRNA.	355					DNA integration|cell cycle|chromatin remodeling|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex|nucleolus|nucleoplasm	p53 binding	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CTGCTGGAGACTCTGACAGACG	0.634			"""D, N, F, S"""		malignant rhabdoid	malignant rhabdoid							---	131	---	---	13	---					
SLC35A2	7355	broad.mit.edu	37	X	48762551	48762552	+	Frame_Shift_Del	DEL	GA	-	-			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chrX:48762551_48762552delGA	uc011mmm.1	-	4	1040_1041	c.718_719delTC	c.(718-720)tccfs	p.S240fs	SLC35A2_uc004dlo.1_Frame_Shift_Del_p.S212fs|SLC35A2_uc011mml.1_Frame_Shift_Del_p.S225fs|SLC35A2_uc004dlp.1_Frame_Shift_Del_p.S212fs|SLC35A2_uc011mmn.1_Frame_Shift_Del_p.S151fs|SLC35A2_uc004dlq.3_Intron|SLC35A2_uc004dlr.1_Intron	NM_001042498	NP_001035963	P78381	S35A2_HUMAN	Homo sapiens solute carrier family 35 (UDP-galactose transporter), member A2 (SLC35A2), transcript variant 3, mRNA.	212					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	UDP-galactose transmembrane transporter activity|sugar:hydrogen symporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GAAGCCGGAGGAGAGACAGGAG	0.649													---	5	---	---	5	---					
