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
NBPF10	100132406	broad.mit.edu	37	1	145302714	145302714	+	Silent	SNP	A	G	G	rs9424867		TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr1:145302714A>G	uc021oul.1	+	7	1187	c.1152A>G	c.(1150-1152)ttA>ttG	p.L384L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NBPF10_uc021ouk.1_Silent_p.L384L|NBPF10_uc010oyi.2_5'UTR|NBPF10_uc001emq.1_Silent_p.L113L|NBPF10_uc021oum.1_5'Flank	NM_001039703	NP_001034792	A6NDV3	A6NDV3_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 10 (NBPF10), mRNA.	384								p.L384L(6)|p.L113L(3)		NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AGGAGAAGTTACGGGAAGGGA	0.527000														58			5		0	0	0.000602214	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	T	T	rs121913500		TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	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									45			35		0	0	0.00170553	0	0
COBLL1	22837	broad.mit.edu	37	2	165579003	165579003	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr2:165579003T>C	uc002ucp.3	-	4	913	c.691A>G	c.(691-693)Att>Gtt	p.I231V	COBLL1_uc002ucq.3_Missense_Mutation_p.I231V|COBLL1_uc010zcw.2_Missense_Mutation_p.I297V|COBLL1_uc010zcx.2_Missense_Mutation_p.I277V|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_5'UTR	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	269										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TCCTTCATAATATCTAGGTTT	0.313000														25			27		0	0	0.000339439	0	0
DL492607	0	broad.mit.edu	37	11	113661349	113661349	+	RNA	SNP	A	G	G	rs1713675	by1000genomes	TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr11:113661349A>G	uc001pof.1	+	0		c.1397A>G								Homo sapiens cDNA FLJ36034 fis, clone TESTI2017107, highly similar to CYCLIC-AMP-DEPENDENT TRANSCRIPTION FACTOR ATF-4.																		GGGTATAGATAACCTGGAAAC	0.478000														107			4		0	0	0.000602214	0	0
SH2B3	10019	broad.mit.edu	37	12	111885211	111885211	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr12:111885211G>A	uc001tsf.3	+	4	1129	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S	SH2B3_uc001tse.3_Missense_Mutation_p.G367S|SH2B3_uc010syf.2_Missense_Mutation_p.G367S|SH2B3_uc010syg.2_Missense_Mutation_p.G165S	NM_005475	NP_005466	Q9UQQ2	SH2B3_HUMAN	Homo sapiens SH2B adaptor protein 3 (SH2B3), mRNA.	367	SH2.				blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						CTGGTTCCACGGCCCCATCTC	0.622000														52			23		0	0	0.000295444	0	0
MMEL1	79258	broad.mit.edu	37	1	2529663	2529663	+	Nonsense_Mutation	SNP	G	A	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr1:2529663G>A	uc001ajy.2	-	12	1469	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	419					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)		TAGTTCACTCGTGTGTCCTTG	0.582000														11			29		0	0	0.000409698	0	0
EXD1	161829	broad.mit.edu	37	15	41476577	41476577	+	Missense_Mutation	SNP	G	A	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr15:41476577G>A	uc010ucv.2	-	11	1543	c.1271C>T	c.(1270-1272)cCa>cTa	p.P424L	EXD1_uc001znj.3_Missense_Mutation_p.P164L|EXD1_uc001znk.3_Missense_Mutation_p.P366L	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	366					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TGTAAAACTTGGAGCTTTATC	0.378000														87			51		0	0	0.000781405	0	0
GRIK4	2900	broad.mit.edu	37	11	120732708	120732708	+	Missense_Mutation	SNP	G	T	T	rs137906208	by1000genomes	TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr11:120732708G>T	uc001pxn.2	+	8	1072	c.785G>T	c.(784-786)cGt>cTt	p.R262L	GRIK4_uc009zav.1_Missense_Mutation_p.R262L|GRIK4_uc009zaw.1_Missense_Mutation_p.R262L|GRIK4_uc009zax.1_Missense_Mutation_p.R262L	NM_014619	NP_055434	Q16099	GRIK4_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 4 (GRIK4), mRNA.	262					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GTGGATGATCGTGTCAACATC	0.483000														81			72		1.42382e-21	1.78316e-20	0.000781405	1	0
UBE2B	7320	broad.mit.edu	37	5	133725924	133725924	+	Silent	SNP	G	T	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr5:133725924G>T	uc003kzh.3	+	5	756	c.339G>T	c.(337-339)ctG>ctT	p.L113L		NM_003337	NP_003328	P63146	UBE2B_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2B (UBE2B), mRNA.	113					canonical Wnt receptor signaling pathway|histone H2A ubiquitination|negative regulation of cAMP-mediated signaling|postreplication repair|proteasomal ubiquitin-dependent protein catabolic process|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein autoubiquitination|protein monoubiquitination|protein stabilization|response to UV|response to drug	cytoplasm|plasma membrane|replication fork	ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			kidney(1)|large_intestine(2)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTCTCTGCTGGATGAACCGA	0.388000								Rad6 pathway						38			4		0.000602214	0.00673968	0.000602214	1	0
KIR2DL2	3803	broad.mit.edu	37	GL000209.1	71145	71145	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chrGL000209.1:71145G>C	uc002qui.2	+	1	50	c.39G>C	c.(37-39)ttG>ttC	p.L13F	KIR2DL2_uc002qtt.2_Intron|KIR2DL2_uc010yic.2_Missense_Mutation_p.L10F|KIR2DL2_uc002qty.3_Intron|KIR2DL2_uc010evg.1_Missense_Mutation_p.L13F|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.	13					regulation of immune response	integral to membrane|plasma membrane	receptor activity										TTCTAGGGTTGTTCTTGGTCC	0.557000														32			4		0	0	0.000602214	0	0
USP37	57695	broad.mit.edu	37	2	219321847	219321847	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr2:219321847A>C	uc010fvs.1	-	23	3094	c.2681T>G	c.(2680-2682)gTt>gGt	p.V894G	USP37_uc002vie.2_Missense_Mutation_p.V894G|USP37_uc010zkf.1_Missense_Mutation_p.V894G|USP37_uc002vif.2_Missense_Mutation_p.V894G|USP37_uc002vig.2_Missense_Mutation_p.V800G	NM_020935	NP_065986	Q86T82	UBP37_HUMAN	Homo sapiens ubiquitin specific peptidase 37 (USP37), mRNA.	894					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GTGACTGACAACACTGATGAG	0.363000														45			4		0	0	0.00024832	0	0
GGT7	2686	broad.mit.edu	37	20	33439058	33439058	+	Silent	SNP	C	T	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr20:33439058C>T	uc002xay.3	-	12	1744	c.1701G>A	c.(1699-1701)gcG>gcA	p.A567A	GGT7_uc010gex.3_Non-coding_Transcript|GGT7_uc002xaz.1_Silent_p.A584A	NM_178026	NP_821158	Q9UJ14	GGT7_HUMAN	Homo sapiens gamma-glutamyltransferase 7 (GGT7), mRNA.	567					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TGAGGCCCCGCGCAGCTCCAT	0.637000														29			10		0	0	0.000978159	0	0
LOC220729	220729	broad.mit.edu	37	3	197348668	197348668	+	RNA	SNP	C	G	G	rs79940815	by1000genomes	TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr3:197348668C>G	uc011bug.2	-	3		c.423G>C			LOC220729_uc003fxy.3_Non-coding_Transcript|LOC220729_uc010iao.2_Intron					Homo sapiens succinate dehydrogenase complex, subunit A, flavoprotein (Fp) pseudogene (LOC220729), non-coding RNA.																		ACTTGAGGCTCTGTCCACCAA	0.488000														103			4		0	0	0.00024832	0	0
CD22	933	broad.mit.edu	37	19	35832001	35832001	+	Silent	SNP	T	C	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:35832001T>C	uc010edt.3	+	6	1551	c.1467T>C	c.(1465-1467)agT>agC	p.S489S	CD22_uc010edu.3_Silent_p.S401S|CD22_uc010edv.3_Silent_p.S489S|CD22_uc002nzb.4_Silent_p.S312S|CD22_uc010xst.2_Silent_p.S317S|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	489	Ig-like C2-type 4.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CTTGTAATAGTTGGTGCTCGT	0.622000														40			4		0	0	0.00024832	0	0
GMCL1P1	64396	broad.mit.edu	37	5	177613036	177613036	+	Missense_Mutation	SNP	A	C	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr5:177613036A>C	uc003mit.1	-	0	1398	c.1265T>G	c.(1264-1266)gTa>gGa	p.V422G						Homo sapiens germ cell-less homolog 1 (Drosophila) pseudogene 1 (GMCL1P1), non-coding RNA.																		GGTGTAAATTACAAGTAGGTC	0.448000														14			7		0	0	8.12818e-05	0	0
TPM3	7170	broad.mit.edu	37	1	154145663	154145663	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr1:154145663A>G	uc001fec.1	-	3	507	c.392T>C	c.(391-393)aTt>aCt	p.I131T	TPM3_uc001fdx.1_5'Flank|TPM3_uc010pei.1_Missense_Mutation_p.I4T|TPM3_uc001fdy.1_Missense_Mutation_p.I94T|TPM3_uc001fdz.1_Missense_Mutation_p.I94T|TPM3_uc001fea.1_Missense_Mutation_p.I94T|TPM3_uc001feb.1_Missense_Mutation_p.I94T|TPM3_uc010pej.1_Missense_Mutation_p.I27T|TPM3_uc001fed.1_Missense_Mutation_p.I94T	NM_152263	NP_689476	P06753	TPM3_HUMAN	Homo sapiens tropomyosin 3 (TPM3), transcript variant 1, mRNA.	130					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CCGGTTTTCAATAACCTTCAT	0.433000			T	"""NTRK1, ALK, ROS1"""	"""papillary thyroid, ALCL, NSCLC"""									34			16		0	0	0.000422831	0	0
SMARCA4	6597	broad.mit.edu	37	19	11141525	11141525	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:11141525G>C	uc010dxp.3	+	25	3862	c.3502G>C	c.(3502-3504)Gca>Cca	p.A1168P	SMARCA4_uc010dxo.3_Missense_Mutation_p.A1168P|SMARCA4_uc002mqf.4_Missense_Mutation_p.A1168P|SMARCA4_uc002mqg.1_Missense_Mutation_p.A1168P|SMARCA4_uc010dxq.3_Missense_Mutation_p.A1168P|SMARCA4_uc010dxr.3_Missense_Mutation_p.A1168P|SMARCA4_uc002mqj.4_Missense_Mutation_p.A1168P|SMARCA4_uc010dxs.3_Missense_Mutation_p.A1168P|SMARCA4_uc010dxt.1_Missense_Mutation_p.A388P|SMARCA4_uc002mqh.4_Missense_Mutation_p.A291P|SMARCA4_uc002mqi.1_Missense_Mutation_p.A371P	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1168	Helicase C-terminal.				chromatin remodeling|negative regulation of S phase of mitotic cell cycle|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex|WINAC complex|nBAF complex|npBAF complex|nuclear chromatin	ATP binding|DNA binding|DNA-dependent ATPase activity|androgen receptor binding|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCTCCAGTCGGCAGACACTGT	0.607000			"""F, N, Mis"""		NSCLC									8			3		0	0	6.4e-05	0	0
CAPNS2	84290	broad.mit.edu	37	16	55600782	55600782	+	Silent	SNP	A	G	G			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr16:55600782A>G	uc002eid.1	+	0	199	c.114A>G	c.(112-114)ggA>ggG	p.G38G	LPCAT2_uc002eie.4_Intron|LPCAT2_uc002eic.3_Intron	NM_032330	NP_115706	Q96L46	CPNS2_HUMAN	Homo sapiens calpain, small subunit 2 (CAPNS2), mRNA.	38	Gly-rich.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						GAAATATTGGAGGGATAGTTG	0.507000														28			3		0	0	0.00024832	0	0
OR52N5	390075	broad.mit.edu	37	11	5799221	5799221	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr11:5799221A>G	uc010qzn.2	-	0	677	c.644T>C	c.(643-645)aTt>aCt	p.I215T	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001922	NP_001001922	Q8NH56	O52N5_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 5 (OR52N5), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAACACTCCAATCAGGAGAGC	0.438000														57			15		0	0	0.000219431	0	0
HDX	139324	broad.mit.edu	37	X	83616611	83616611	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chrX:83616611G>T	uc011mqv.2	-	5	1562	c.1315C>A	c.(1315-1317)Cgc>Agc	p.R439S	HDX_uc004eel.2_Missense_Mutation_p.R381S|HDX_uc004eek.2_Missense_Mutation_p.R439S	NM_001177479	NP_001170949	Q7Z353	HDX_HUMAN	Homo sapiens highly divergent homeobox (HDX), transcript variant 1, mRNA.	439						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AACTGAGTGCGGTCCTGTAGC	0.378000														19			14		1.05317e-09	1.20428e-08	0.000219431	1	0
DMPK	1760	broad.mit.edu	37	19	46275947	46275947	+	Silent	SNP	G	A	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:46275947G>A	uc002pdi.1	-	10	1560	c.1374C>T	c.(1372-1374)caC>caT	p.H458H	DMPK_uc021uwb.1_5'Flank|DMPK_uc010xxs.1_Silent_p.H343H|DMPK_uc002pdd.1_Silent_p.H442H|DMPK_uc002pde.1_Silent_p.H437H|DMPK_uc002pdg.1_Silent_p.H427H|DMPK_uc002pdf.1_Silent_p.H432H|DMPK_uc002pdh.1_Silent_p.H427H|DMPK_uc010xxt.1_Silent_p.H427H	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	442					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCGCTTGCACGTGTGGCTCAA	0.632000														3			17		0	0	0.00188189	0	0
MAGEE2	139599	broad.mit.edu	37	X	75004654	75004654	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chrX:75004654C>T	uc004ecj.2	-	0	426	c.233G>A	c.(232-234)cGt>cAt	p.R78H		NM_138703	NP_619648	Q8TD90	MAGE2_HUMAN	Homo sapiens melanoma antigen family E, 2 (MAGEE2), mRNA.	78										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGCCCCCAAACGTCTGGACTG	0.557000														35			12		0	0	0.00136819	0	0
TMCO7	79613	broad.mit.edu	37	16	68894132	68894132	+	Missense_Mutation	SNP	T	C	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr16:68894132T>C	uc002ewi.4	+	1	452	c.440T>C	c.(439-441)tTc>tCc	p.F147S	TMCO7_uc002ewh.3_Missense_Mutation_p.F147S	NM_024562	NP_078838	Q9C0B7	TMCO7_HUMAN	Homo sapiens transmembrane and coiled-coil domains 7 (TMCO7), mRNA.	147						integral to membrane	binding			endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|prostate(2)	20		Ovarian(137;0.0568)		OV - Ovarian serous cystadenocarcinoma(108;0.0446)|Epithelial(162;0.198)		ACTGTCCAGTTCGTTTTGCAG	0.483000														91			70		0	0	0.000781405	0	0
TMEM176A	55365	broad.mit.edu	37	7	150500857	150500857	+	Silent	SNP	C	A	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:150500857C>A	uc003whx.1	+	4	570	c.492C>A	c.(490-492)ccC>ccA	p.P164P	TMEM176B_uc003whw.4_5'Flank	NM_018487	NP_060957	Q96HP8	T176A_HUMAN	Homo sapiens transmembrane protein 176A (TMEM176A), mRNA.	164						integral to membrane		p.A163T(1)		breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCAGCCCCCACTCAGAGTC	0.537000														41			19		3.62473e-10	4.23691e-09	0.00188189	1	0
TLR7	51284	broad.mit.edu	37	X	12904193	12904193	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chrX:12904193G>C	uc004cvc.3	+	2	705	c.566G>C	c.(565-567)tGt>tCt	p.C189S		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	189					I-kappaB phosphorylation|cellular response to mechanical stimulus|defense response to virus|inflammatory response|innate immune response|positive regulation of NF-kappaB import into nucleus|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|siRNA binding|single-stranded RNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CGAAATCCTTGTTATGTTTCA	0.383000														47			27		0	0	0.00106085	0	0
CABLES1	91768	broad.mit.edu	37	18	20837289	20837289	+	Silent	SNP	C	T	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr18:20837289C>T	uc002kuc.2	+	9	1860	c.1860C>T	c.(1858-1860)caC>caT	p.H620H	TMEM241_uc010xaq.2_Intron|CABLES1_uc002kub.2_Silent_p.H123H|CABLES1_uc002kud.2_Silent_p.H355H	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN	Homo sapiens Cdk5 and Abl enzyme substrate 1 (CABLES1), transcript variant 2, mRNA.	620					blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCCCGAGCACGAAGTCATGC	0.557000														36			8		0	0	0.000442599	0	0
MAGI2	9863	broad.mit.edu	37	7	77998517	77998517	+	Silent	SNP	G	C	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:77998517G>C	uc003ugx.3	-	6	1313	c.1059C>G	c.(1057-1059)ggC>ggG	p.G353G	MAGI2_uc003ugy.3_Silent_p.G353G|MAGI2_uc010ldx.1_5'UTR|MAGI2_uc010ldy.1_5'UTR|MAGI2_uc011kgr.1_Silent_p.G185G|MAGI2_uc011kgs.1_Silent_p.G190G	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	353	Interaction with DDN.|WW 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTTTTTCCCAGCCATATGGAA	0.274000														38			13		0	0	0.000219431	0	0
PCLO	27445	broad.mit.edu	37	7	82583261	82583261	+	Silent	SNP	G	A	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:82583261G>A	uc003uhx.2	-	4	7297	c.7008C>T	c.(7006-7008)tcC>tcT	p.S2336S	PCLO_uc003uhv.2_Silent_p.S2336S|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2267	Poly-Pro.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACACGGTTTCGGATAAGCTAC	0.428000														49			45		0	0	0.000509022	0	0
TMEM131	23505	broad.mit.edu	37	2	98377070	98377070	+	Silent	SNP	G	A	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr2:98377070G>A	uc002syh.4	-	37	5323	c.5094C>T	c.(5092-5094)agC>agT	p.S1698S	TMEM131_uc002syg.3_Silent_p.S78S	NM_015348	NP_056163	Q92545	TM131_HUMAN	Homo sapiens transmembrane protein 131 (TMEM131), mRNA.	1698	Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTGAGCCATCGCTGTCAACAG	0.478000														7			4		0	0	0.00024832	0	0
POP1	10940	broad.mit.edu	37	8	99169863	99169863	+	Silent	SNP	G	A	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr8:99169863G>A	uc003yij.4	+	15	2539	c.2439G>A	c.(2437-2439)aaG>aaA	p.K813K	POP1_uc011lgv.2_Silent_p.K813K|POP1_uc003yik.3_Silent_p.K813K	NM_001145860	NP_055844	Q99575	POP1_HUMAN	Homo sapiens processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae) (POP1), transcript variant 1, mRNA.	813					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity	p.L812L(1)		autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AATTACTGAAGCAACTGTCAG	0.488000														55			6		0	0	0.000157383	0	0
CIC	23152	broad.mit.edu	37	19	42791815	42791815	+	Missense_Mutation	SNP	T	A	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:42791815T>A	uc002otf.1	+	4	741	c.701T>A	c.(700-702)cTg>cAg	p.L234Q		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	234					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.I233_L234>M(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGCAAGATCCTGGGCGAGTGG	0.617000			"""Mis, F, S"""		oligodendroglioma									10			20		0	0	0.000295444	0	0
PSMD5	5711	broad.mit.edu	37	9	123586941	123586941	+	Missense_Mutation	SNP	G	T	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr9:123586941G>T	uc004bko.3	-	6	856	c.837C>A	c.(835-837)aaC>aaA	p.N279K	PSMD5_uc011lye.2_Missense_Mutation_p.N236K	NM_005047	NP_005038	Q16401	PSMD5_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 5 (PSMD5), mRNA.	279					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|viral reproduction	proteasome complex	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						TGACAGCCAGGTTTCCAAAAA	0.388000														40			26		1.5548e-18	1.90192e-17	0.000878237	1	0
WFDC9	259240	broad.mit.edu	37	20	44237304	44237304	+	Silent	SNP	G	A	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr20:44237304G>A	uc002xoy.3	-	3	455	c.237C>T	c.(235-237)aaC>aaT	p.N79N		NM_147198	NP_671731	Q8NEX5	WFDC9_HUMAN	Homo sapiens WAP four-disulfide core domain 9 (WFDC9), mRNA.	79						extracellular region				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				CAACTCACTCGTTGTCTAAGC	0.463000														85			10		0	0	0.000673444	0	0
CLEC7A	64581	broad.mit.edu	37	12	10277909	10277909	+	Missense_Mutation	SNP	C	T	T			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr12:10277909C>T	uc001qxg.2	-	3	666	c.479G>A	c.(478-480)aGc>aAc	p.S160N	CLEC7A_uc001qxe.3_Non-coding_Transcript|CLEC7A_uc001qxf.2_Missense_Mutation_p.S114N|CLEC7A_uc001qxh.2_Missense_Mutation_p.S114N|CLEC7A_uc001qxi.2_Missense_Mutation_p.S160N|CLEC7A_uc001qxj.2_Missense_Mutation_p.S81N|CLEC7A_uc001qxk.1_Non-coding_Transcript|CLEC7A_uc009zhg.1_Intron|CLEC7A_uc021quz.1_Missense_Mutation_p.S114N|CLEC7A_uc021qva.1_Missense_Mutation_p.S114N	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	Homo sapiens C-type lectin domain family 7, member A (CLEC7A), transcript variant 1, mRNA.	160	C-type lectin.				T cell activation|carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition	cytoplasm|integral to membrane	MHC protein binding|metal ion binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TTCATTTGAGCTGTCTATCTT	0.388000														70			11		0	0	0.00136819	0	0
ACN9	57001	broad.mit.edu	37	7	96747045	96747045	+	Silent	SNP	C	A	A			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:96747045C>A	uc003uoo.4	+	0	1141	c.10C>A	c.(10-12)Cgg>Agg	p.R4R		NM_020186	NP_064571	Q9NRP4	ACN9_HUMAN	Homo sapiens ACN9 homolog (S. cerevisiae) (ACN9), mRNA.	4					regulation of gluconeogenesis	mitochondrial intermembrane space		p.R4Q(1)		large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					TATGCCGGGGCGGCACGTTTC	0.647000														40			24		1.74807e-11	2.08974e-10	0.000339439	1	0
TRPC6	7225	broad.mit.edu	37	11	101323746	101323746	+	Silent	SNP	A	G	G			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr11:101323746A>G	uc001pgk.4	-	12	3161	c.2736T>C	c.(2734-2736)ctT>ctC	p.L912L	TRPC6_uc009ywy.3_Silent_p.L796L	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	912					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GTTCTCTAATAAGTTCTGCTA	0.368000														87			47		0	0	0.000781405	0	0
C15orf2	23742	broad.mit.edu	37	15	24924397	24924397	+	Missense_Mutation	SNP	G	C	C			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr15:24924397G>C	uc001ywo.3	+	0	3857	c.3383G>C	c.(3382-3384)tGg>tCg	p.W1128S		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1128					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CAGCACACATGGACAGAGAGA	0.478000														77			44		0	0	0.000781405	0	0
RNF32	140545	broad.mit.edu	37	7	156447399	156447399	+	Missense_Mutation	SNP	A	G	G			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:156447399A>G	uc003wmo.3	+	3	634	c.404A>G	c.(403-405)gAg>gGg	p.E135G	RNF32_uc010lql.1_Non-coding_Transcript|RNF32_uc010lqm.3_Missense_Mutation_p.E135G|RNF32_uc003wmq.3_Missense_Mutation_p.E135G|RNF32_uc003wmr.3_Missense_Mutation_p.E135G|RNF32_uc003wms.3_Missense_Mutation_p.E135G|RNF32_uc003wmu.3_Non-coding_Transcript|RNF32_uc003wmt.3_Missense_Mutation_p.E135G	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.	135						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GAAGAATTCGAGCTTCGTCCT	0.542000														47			3		0	0	0.000602214	0	0
NRG2	9542	broad.mit.edu	37	5	139422532	139422534	+	In_Frame_Del	DEL	GCT	-	-			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr5:139422532_139422534delGCT	uc003lev.2	-	0	351_353	c.121_123delAGC	c.(121-123)agcdel	p.S41del	NRG2_uc003lew.2_In_Frame_Del_p.S41del|NRG2_uc003lex.2_In_Frame_Del_p.S41del|NRG2_uc003ley.2_In_Frame_Del_p.S41del|NRG2_uc021yed.1_In_Frame_Del_p.S41del	NM_013982	NP_053585	O14511	NRG2_HUMAN	Homo sapiens neuregulin 2 (NRG2), transcript variant 3, mRNA.	41	Poly-Ser.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity	p.S41delS(4)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			tgccgctctcgctgctgctgctg	0.700													---	4	---	---	2	---					
FOXJ1	2302	broad.mit.edu	37	17	74136327	74136327	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr17:74136327delG	uc002jqx.3	-	1	505	c.150delC	c.(148-150)cccfs	p.P50fs	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	50					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GGGGCAGGGCGGGGGCCTTGG	0.756													---	4	---	---	2	---					
CARD10	29775	broad.mit.edu	37	22	37900249	37900249	+	Frame_Shift_Del	DEL	G	-	-			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr22:37900249delG	uc003asx.1	-	8	1595	c.1578delC	c.(1576-1578)cccfs	p.P526fs	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asw.1_Frame_Shift_Del_p.P240fs|CARD10_uc003asy.1_Frame_Shift_Del_p.P526fs	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	526					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AGCCGGCACTGGGGGGGAAGG	0.642													---	4	---	---	2	---					
