Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample	pox	qox	pox_cutoff	isArtifactMode	oxoGCut
SRRM2	23524	broad.mit.edu	37	16	2814039	2814039	+	Missense_Mutation	SNP	A	A	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr16:2814039A>T	uc002crk.3	+	10	4059	c.3510A>T	c.(3508-3510)ttA>ttT	p.L1170F	SRRM2_uc002crj.1_Missense_Mutation_p.L1074F|SRRM2_uc002crl.1_Missense_Mutation_p.L1170F|SRRM2_uc010bsu.1_Missense_Mutation_p.L1074F	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1170	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|RNA binding|protein N-terminus binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AAATGGCCTTACCCCCTCAGG	0.463000													45	68					0	0	1	0	0
ZMIZ1	57178	broad.mit.edu	37	10	81052015	81052015	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr10:81052015G>A	uc001kaf.2	+	10	1431	c.859G>A	c.(859-861)Gca>Aca	p.A287T	ZMIZ1_uc001kag.2_Missense_Mutation_p.A163T|ZMIZ1_uc001kah.1_Missense_Mutation_p.A163T	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	287	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			tgcagcagcggcagtggcagc	0.652000													9	87					0	0	1	0	0
DCTD	1635	broad.mit.edu	37	4	183815663	183815663	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr4:183815663C>T	uc003ivf.3	-	3	514	c.340G>A	c.(340-342)Gct>Act	p.A114T	DCTD_uc003ivg.3_Missense_Mutation_p.A125T|DCTD_uc010irw.3_Missense_Mutation_p.A55T|DCTD_uc003ivh.3_Missense_Mutation_p.A55T	NM_001921	NP_001912	P32321	DCTD_HUMAN	Homo sapiens dCMP deaminase (DCTD), transcript variant 2, mRNA.	114					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding	p.A114T(2)		endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		ATGAGCTTAGCGCATTCATTA	0.468000													11	22					0	0	1	0	0
WIF1	11197	broad.mit.edu	37	12	65460426	65460426	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr12:65460426T>C	uc001ssk.3	-	5	1100	c.725A>G	c.(724-726)gAc>gGc	p.D242G		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA.	242	EGF-like 2.				Wnt receptor signaling pathway|multicellular organismal development	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GTTACCTTTGTCACAGTTCAC	0.373000			T	HMGA2	pleomorphic salivary gland adenoma								4	29					0	0	1	0	0
FLJ36000	284124	broad.mit.edu	37	17	21904093	21904093	+	RNA	SNP	A	A	G	rs76302591		TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr17:21904093A>G	uc002gza.2	+	0		c.32A>G								Homo sapiens uncharacterized FLJ36000 (FLJ36000), non-coding RNA.																		cacggggtccacaggaacgtc	0.682000													3	29					0	0	1	0	0
CDC14C	168448	broad.mit.edu	37	7	48965036	48965036	+	Silent	SNP	G	G	A	rs144867410	by1000genomes	TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr7:48965036G>A	uc010kyv.1	+	0	880	c.768G>A	c.(766-768)gcG>gcA	p.A256A						Homo sapiens CDC14 cell division cycle 14 homolog C (S. cerevisiae) (CDC14C), non-coding RNA.																		TTTTCTTTGCGGATGGCAGCA	0.433000													3	10					0	0	1	0	0
THBS2	7058	broad.mit.edu	37	6	169621604	169621604	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr6:169621604C>T	uc003qwt.3	-	20	3540	c.3292G>A	c.(3292-3294)Gac>Aac	p.D1098N		NM_003247	NP_003238	P35442	TSP2_HUMAN	Homo sapiens thrombospondin 2 (THBS2), mRNA.	1098	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTCCTGGGGTCGTGCCATAAG	0.562000													4	61					0	0	1	0	0
GRIA3	2892	broad.mit.edu	37	X	122616848	122616848	+	Missense_Mutation	SNP	T	T	A			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chrX:122616848T>A	uc004etq.4	+	14	2930	c.2638T>A	c.(2638-2640)Tac>Aac	p.Y880N	GRIA3_uc004etr.4_Missense_Mutation_p.Y880N|GRIA3_uc004ets.4_Non-coding_Transcript	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	880					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TTATGCTACATACAGAGAAGG	0.418000													52	80					0	0	1	0	0
AFF2	2334	broad.mit.edu	37	X	148037323	148037323	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chrX:148037323C>T	uc004fcp.3	+	10	2227	c.1748C>T	c.(1747-1749)cCc>cTc	p.P583L	AFF2_uc004fcq.3_Missense_Mutation_p.P573L|AFF2_uc004fcr.3_Missense_Mutation_p.P544L|AFF2_uc011mxb.2_Missense_Mutation_p.P548L|AFF2_uc004fcs.3_Missense_Mutation_p.P550L|AFF2_uc011mxc.2_Missense_Mutation_p.P224L	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	583					RNA splicing|brain development|mRNA processing|regulation of RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCTGAACCCAAAGAAAGG	0.483000													87	117					0	0	1	0	0
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	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								26	28					0	0	1	0	0
KRTAP4-8	728224	broad.mit.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529	by1000genomes	TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr17:39254054A>T	uc010wfo.2	-	0	322	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960	NP_114166	Q9BYQ9	KRA48_HUMAN	Homo sapiens keratin associated protein 4-8 (KRTAP4-8), mRNA.	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament		p.C95S(8)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677000													4	32					0	0	1	0	0
FUNDC2P2	388965	broad.mit.edu	37	2	84518074	84518074	+	Silent	SNP	C	C	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr2:84518074C>T	uc010ffz.1	+	0	269	c.132C>T	c.(130-132)agC>agT	p.S44S						Homo sapiens FUN14 domain containing 2 pseudogene 2 (FUNDC2P2), non-coding RNA.																		AAAAGTATAGCGTGGCAACCC	0.512000													42	53					0	0	1	0	0
OGT	8473	broad.mit.edu	37	X	70793627	70793627	+	Missense_Mutation	SNP	G	G	A			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chrX:70793627G>A	uc004eaa.2	+	21	3362	c.3124G>A	c.(3124-3126)Gtc>Atc	p.V1042I	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.V1032I|OGT_uc004eac.3_Missense_Mutation_p.V903I|OGT_uc004ead.3_Missense_Mutation_p.V661I	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	1042					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	MLL5-L complex|cytosol	enzyme activator activity|protein N-acetylglucosaminyltransferase activity|protein binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GCCTGTTGAAGTCACTGAGTC	0.443000													5	15					0	0	1	0	0
ANO4	121601	broad.mit.edu	37	12	101437335	101437335	+	Silent	SNP	T	T	A			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr12:101437335T>A	uc010svm.1	+	12	1745	c.1173T>A	c.(1171-1173)gcT>gcA	p.A391A	ANO4_uc001thw.2_Silent_p.A356A|ANO4_uc001thx.2_Silent_p.A391A	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	391						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TCTGCCAAGCTACAGATATCA	0.373000										HNSCC(74;0.22)			15	36					0	0	1	0	0
PRUNE2	158471	broad.mit.edu	37	9	79324331	79324331	+	Silent	SNP	G	G	A			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr9:79324331G>A	uc010mpk.3	-	7	2983	c.2859C>T	c.(2857-2859)aaC>aaT	p.N953N	PRUNE2_uc022bih.1_Silent_p.N775N	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	953					G1 phase|apoptosis|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTCTCCTAGGTTGGATGCAC	0.423000													10	127					0	0	1	0	0
GPANK1	7918	broad.mit.edu	37	6	31630129	31630129	+	Missense_Mutation	SNP	G	G	C			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr6:31630129G>C	uc003nvn.3	-	2	1646	c.985C>G	c.(985-987)Ctg>Gtg	p.L329V	C6orf47_uc003nvm.1_5'Flank|GPANK1_uc021yuu.1_Missense_Mutation_p.L329V|GPANK1_uc003nvo.4_Missense_Mutation_p.L329V|GPANK1_uc003nvp.4_Missense_Mutation_p.L329V|GPANK1_uc003nvq.3_Missense_Mutation_p.L329V	NM_033177	NP_149417	O95872	GPAN1_HUMAN	Homo sapiens G patch domain and ankyrin repeats 1 (GPANK1), transcript variant 2, mRNA.	329						intracellular	nucleic acid binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(7)	12						CTCCAGCTCAGTGTGGCCACC	0.577000													29	66					0	0	1	0	0
NIPBL	25836	broad.mit.edu	37	5	36961657	36961657	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr5:36961657C>T	uc003jkl.4	+	4	929	c.430C>T	c.(430-432)Caa>Taa	p.Q144*	NIPBL_uc003jkk.4_Nonsense_Mutation_p.Q144*|NIPBL_uc003jkm.1_Nonsense_Mutation_p.Q23*	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	144					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAATTATCAACAAACCACTAT	0.338000													33	57					0	0	1	0	0
NAB2	4665	broad.mit.edu	37	12	57485446	57485446	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr12:57485446T>C	uc001smz.3	+	1	1000	c.622T>C	c.(622-624)Ttc>Ctc	p.F208L		NM_005967	NP_005958	Q15742	NAB2_HUMAN	Homo sapiens NGFI-A binding protein 2 (EGR1 binding protein 2) (NAB2), mRNA.	208					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity	p.F208L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTCGCCCCCCTTCTCCCCCCC	0.716000													6	23					0	0	1	0	0
LRRC37A11P	342666	broad.mit.edu	37	17	37187191	37187191	+	RNA	SNP	G	G	A			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr17:37187191G>A	uc002hrd.1	+	0		c.1033G>A								Homo sapiens FLJ43826 protein (FLJ43826), non-coding RNA.																		GGGACTTACCGTCACTCCAAA	0.498000													15	15					0	0	1	0	0
C11orf51	25906	broad.mit.edu	37	11	71821621	71821621	+	Missense_Mutation	SNP	T	T	C			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr11:71821621T>C	uc009ytc.1	-	1	156	c.122A>G	c.(121-123)aAc>aGc	p.N41S	LRTOMT_uc010rqw.2_3'UTR|LRTOMT_uc010rqv.2_3'UTR|LRTOMT_uc001ors.4_3'UTR|C11orf51_uc001orv.3_Missense_Mutation_p.N50S|C11orf51_uc001orw.3_Missense_Mutation_p.N50S			P60006	CK051_HUMAN	Homo sapiens chromosome 11 open reading frame 51 (C11orf51), mRNA.	50						intracellular				endometrium(1)	1						AGGAACCAGGTTGTTGTCTTT	0.597000													26	36					0	0	1	0	0
SLC9A6	10479	broad.mit.edu	37	X	135106545	135106545	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chrX:135106545C>T	uc004ezk.3	+	11	1595	c.1519C>T	c.(1519-1521)Cgg>Tgg	p.R507W	SLC9A6_uc011mvx.2_Missense_Mutation_p.R455W|SLC9A6_uc004ezj.3_Missense_Mutation_p.R475W	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA.	475					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACTTATGCACGGCAAATGAT	0.463000													6	81					0	0	1	0	0
TBC1D24	57465	broad.mit.edu	37	16	2550805	2550805	+	Splice_Site	SNP	G	G	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr16:2550805G>T	uc002cql.3	+	8	1666	c.1526_splice	c.e8-1	p.G509_splice	TBC1D24_uc002cqk.3_Splice_Site_p.G503_splice|TBC1D24_uc002cqm.3_Intron|TBC1D24_uc010bsm.3_Splice_Site	NM_001199107	NP_001186036	Q9ULP9	TBC24_HUMAN	Homo sapiens TBC1 domain family, member 24 (TBC1D24), transcript variant 1, mRNA.	509	TLD.				neuron projection development	cytoplasm	Rab GTPase activator activity|protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CATCCTGCAGGGGGAGGAGGC	0.662000													3	16					0.004672	0.00481358	1	1	0
CROCCP2	84809	broad.mit.edu	37	1	16946471	16946471	+	RNA	SNP	G	G	C			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr1:16946471G>C	uc010ocf.2	-	2		c.427C>G			CROCCP2_uc009vov.2_Non-coding_Transcript|CROCCP2_uc001aze.3_Non-coding_Transcript|CROCCP2_uc001azf.3_Non-coding_Transcript					Homo sapiens ciliary rootlet coiled-coil, rootletin pseudogene 2 (CROCCP2), non-coding RNA.																		CGCTGCAGCTGACTCTGCAGC	0.677000													5	11					0	0	1	0	0
C17orf28	283987	broad.mit.edu	37	17	72959892	72959892	+	Silent	SNP	C	C	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr17:72959892C>T	uc002jmj.4	-	2	479	c.330G>A	c.(328-330)gaG>gaA	p.E110E	C17orf28_uc010wrs.2_5'UTR|C17orf28_uc002jmk.2_Silent_p.E110E	NM_030630	NP_085133	Q8IV36	CQ028_HUMAN	Homo sapiens chromosome 17 open reading frame 28 (C17orf28), mRNA.	110						integral to membrane|plasma membrane	protein binding			endometrium(5)|large_intestine(5)|lung(2)|prostate(1)|skin(3)|urinary_tract(1)	17	all_lung(278;0.151)|Lung NSC(278;0.185)					AGTCGGGGTCCTCAAAGATGT	0.667000													3	30					0	0	1	0	0
JAK1	3716	broad.mit.edu	37	1	65303662	65303662	+	Silent	SNP	A	A	G	rs17392258		TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr1:65303662A>G	uc001dbu.1	-	21	3342	c.3093T>C	c.(3091-3093)gaT>gaC	p.D1031D	JAK1_uc009wam.1_Silent_p.D1031D|JAK1_uc009wal.1_Silent_p.D208D	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	1031	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AATACTCCTTATCGGTTTCAA	0.423000			Mis		ALL								4	43					0	0	1	0	0
SLC22A5	6584	broad.mit.edu	37	5	131722739	131722739	+	Missense_Mutation	SNP	T	T	G	rs72552729		TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr5:131722739T>G	uc003kwx.4	+	5	1183	c.919T>G	c.(919-921)Tgg>Ggg	p.W307G	SLC22A5_uc003kww.4_Missense_Mutation_p.W283G|SLC22A5_uc010jdr.1_5'UTR	NM_003060	NP_003051	O76082	S22A5_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	283					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|PDZ domain binding|carnitine transporter activity|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GTCCCCCCGATGGCTCATCTC	0.557000											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	78	137					0	0	1	0	0
ATP6V1C2	245973	broad.mit.edu	37	2	10917798	10917798	+	Missense_Mutation	SNP	C	C	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr2:10917798C>T	uc002ras.3	+	10	1022	c.913C>T	c.(913-915)Cct>Tct	p.P305S	ATP6V1C2_uc002rat.3_Intron	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	305					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		p.S305C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CCCTGATAGGCCTGCTGCGGG	0.587000													30	53					0	0	1	0	0
ARID1A	8289	broad.mit.edu	37	1	27106319	27106320	+	Frame_Shift_Del	DEL	TT	TT	-			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr1:27106319_27106320delTT	uc001bmv.1	+	19	6303_6304	c.5930_5931delTT	c.(5929-5931)cttfs	p.L1977fs	ARID1A_uc001bmu.1_Frame_Shift_Del_p.L1760fs|ARID1A_uc001bmx.1_Frame_Shift_Del_p.L823fs|ARID1A_uc009vsm.1_Frame_Shift_Del_p.L305fs|ARID1A_uc009vsn.1_Frame_Shift_Del_p.L219fs	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1977					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	SWI/SNF complex|nBAF complex|npBAF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGGATTCTCTTGCCAAGCGCT	0.545			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""								30	30	---	---	---	---					
AHCTF1	25909	broad.mit.edu	37	1	247013166	247013167	+	Frame_Shift_Ins	INS	-	-	T			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr1:247013166_247013167insT	uc001ibv.2	-	32	6265_6266	c.6168_6169insA	c.(6166-6171)aaacttfs	p.K2056fs	AHCTF1_uc009xgs.1_Frame_Shift_Ins_p.K908fs|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	2047	Necessary for nuclear localization (By similarity).				cytokinesis|mRNA transport|mitotic prometaphase|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTTTTTGTAAGTTTTTTCTTAG	0.366													14	98	---	---	---	---					
AKR1B10	57016	broad.mit.edu	37	7	134222395	134222396	+	Frame_Shift_Ins	INS	-	-	A			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr7:134222395_134222396insA	uc003vrr.3	+	6	1043_1044	c.723_724insA	c.(721-726)cacaaafs	p.H241fs		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	241					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding	p.H241N(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CTGCAAAGCACAAAAAAACCGC	0.446													8	145	---	---	---	---					
