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
DVL2	1856	broad.mit.edu	37	17	7132713	7132713	+	Silent	SNP	T	T	C			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr17:7132713T>C	ENST00000005340.5	-	7	1083	c.801A>G	c.(799-801)acA>acG	p.T267T	DVL2_ENST00000574642.1_5'UTR|DVL2_ENST00000575458.1_Silent_p.T261T	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	267	PDZ.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TTAGCGTGACTGTGATGATAT	0.567000													37	55					0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54191662	54191662	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr6:54191662G>A	ENST00000259782.4	+	4	668	c.572G>A	c.(571-573)cGc>cAc	p.R191H	TINAG_ENST00000370869.3_Missense_Mutation_p.R187H|TINAG_ENST00000370864.3_Missense_Mutation_p.R173H	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	191					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.R191H(1)|p.R191L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTAAATTTCGCCTTGGCACT	0.373000													30	54					0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51448645	51448645	+	Missense_Mutation	SNP	G	G	C			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr14:51448645G>C	ENST00000298355.3	-	8	2901	c.1780C>G	c.(1780-1782)Cct>Gct	p.P594A	TRIM9_ENST00000338969.5_Missense_Mutation_p.P675A	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	594	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CCAAAGGCAGGATCAGGGTGG	0.517000													41	53					0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	G	A	rs137860963	by1000genomes	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr20:29614328G>A	ENST00000278882.3	+	2	320		c.e2+1		FRG1B_ENST00000439954.2_Splice_Site|FRG1B_ENST00000358464.4_Splice_Site																endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289000													4	23					0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	RNA	SNP	T	T	C	rs140267598	by1000genomes	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr7:142481789T>C	ENST00000603901.1	+	0	468					NR_001296.3																						ACTACCCAGATGAGCTGCAGT	0.488000													6	66					0	0	1	0	0
SLC37A3	84255	broad.mit.edu	37	7	140058508	140058508	+	Silent	SNP	G	G	A	rs142313913	byFrequency	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr7:140058508G>A	ENST00000326232.9	-	6	656	c.453C>T	c.(451-453)aaC>aaT	p.N151N	SLC37A3_ENST00000340308.3_Silent_p.N151N|SLC37A3_ENST00000447932.2_Silent_p.N151N|SLC37A3_ENST00000461089.1_5'UTR|SLC37A3_ENST00000429996.2_Intron	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	151					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					GCAGCAGGCCGTTCACAATCC	0.512000													61	92					0	0	1	0	0
PDXDC2P	283970	broad.mit.edu	37	16	70010646	70010646	+	RNA	SNP	G	G	A	rs149870591	by1000genomes	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr16:70010646G>A	ENST00000531894.1	-	0	3748					NR_003610.1																						CTGTAGGGCCGAAGAAGGGAA	0.478000													4	73					0	0	1	0	0
GLIS2	84662	broad.mit.edu	37	16	4383346	4383346	+	Splice_Site	SNP	A	A	G			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr16:4383346A>G	ENST00000262366.3	+	4	993		c.e4-1		GLIS2_ENST00000433375.1_Splice_Site|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2						cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCTCTCCCTCAGGCTTCCTGC	0.612000													3	40					0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47220609	47220609	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr2:47220609G>A	ENST00000319190.5	+	6	1153	c.785G>A	c.(784-786)aGa>aAa	p.R262K	TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.R228K|TTC7A_ENST00000394850.2_Missense_Mutation_p.R262K|TTC7A_ENST00000461601.1_3'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	262							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AAGGGCATGAGAGAGCTCCGG	0.547000													46	47					0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211148	78211148	+	RNA	SNP	C	C	T	rs12592276	by1000genomes	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr15:78211148C>T	ENST00000565869.1	+	0	111				RP11-114H24.2_ENST00000567226.1_RNA																							AGCTGCTTGTCGAGCTTGTGG	0.597000													5	65					0	0	1	0	0
PMS2P4	5382	broad.mit.edu	37	7	66764392	66764392	+	RNA	SNP	T	T	C	rs75182069	by1000genomes	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr7:66764392T>C	ENST00000414507.1	-	0	63																											ATAGGTTTGATGGCCTTAGCA	0.418000													9	229					0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739794	38739794	+	Silent	SNP	G	G	A	rs142804903		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr3:38739794G>A	ENST00000449082.2	-	27	4916	c.4917C>T	c.(4915-4917)gaC>gaT	p.D1639D		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1639					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGAACATGTCGTCGATGCCAG	0.547000													71	69					0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		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)				CAAGCGGCACCGGGCCCTGGT	0.612000			"""Mis, F, S"""		oligodendroglioma								36	10					0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370348	86370348	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr13:86370348T>C	ENST00000400286.2	-	2	894	c.296A>G	c.(295-297)aAt>aGt	p.N99S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	99						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATCTGCAATATTGTTAAATCC	0.353000													73	20					0	0	1	0	0
CMKLR1	1240	broad.mit.edu	37	12	108685742	108685742	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr12:108685742C>T	ENST00000312143.7	-	3	1361	c.998G>A	c.(997-999)cGc>cAc	p.R333H	CMKLR1_ENST00000552995.1_Missense_Mutation_p.R331H|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R333H|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R331H|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R333H	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	333					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						ATTGACCAGGCGAGAGAAGAG	0.483000													29	54					0	0	1	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799000	57799000	+	Silent	SNP	G	G	A			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr11:57799000G>A	ENST00000302622.3	+	1	599	c.576G>A	c.(574-576)tcG>tcA	p.S192S	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TAGCCTTGTCGTGCTCAGATG	0.498000													65	61					0	0	1	0	0
PSMD4	5710	broad.mit.edu	37	1	151237660	151237660	+	Missense_Mutation	SNP	C	C	T			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr1:151237660C>T	ENST00000368884.3	+	5	468	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C	PSMD4_ENST00000368881.4_Missense_Mutation_p.R130C	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	130	VWFA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|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|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			ACTGGCTAAACGCCTCAAGAA	0.443000													4	19					0	0	1	0	0
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	rs121913503		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632000			M		GBM								34	30					0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178386040	178386040	+	Missense_Mutation	SNP	T	T	G			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr2:178386040T>G	ENST00000264167.4	+	18	1887	c.1741T>G	c.(1741-1743)Ttt>Gtt	p.F581V	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	581					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			CTACTTCTATTTTGCCTTTAA	0.383000													33	67					0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48703456	48703456	+	Missense_Mutation	SNP	T	T	C			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr17:48703456T>C	ENST00000352832.5	+	34	6469	c.6097T>C	c.(6097-6099)Tcc>Ccc	p.S2033P	CACNA1G_ENST00000515411.1_Missense_Mutation_p.S2097P|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S2010P|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S2115P|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S2089P|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S2074P|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S2026P|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S2022P|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S2060P|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S2070P|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S2149P|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S2033P|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S2081P|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S2104P|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S2044P|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S2160P|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S2049P|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S2015P|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S2126P|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S2067P|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S2042P|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S2056P	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2160					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAGTGGGCCCTCCCCGCCCCT	0.642000											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	6	31					0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52605154	52605154	+	Nonsense_Mutation	SNP	C	C	G	rs141049018	byFrequency	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr13:52605154C>G	ENST00000521776.2	+	2	2947	c.2214C>G	c.(2212-2214)taC>taG	p.Y738*		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	738					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		ATGTGGGCTACCAGTCTTCCT	0.483000													4	72					0	0	1	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	RNA	SNP	G	G	A	rs150520281	by1000genomes	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr16:21817457G>A	ENST00000546471.1	-	0	1601																											CTTACATCCAGCTTGAGTAGT	0.259000													4	17					0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107748127	107748127	+	Missense_Mutation	SNP	G	G	T			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr7:107748127G>T	ENST00000388781.3	-	6	623	c.540C>A	c.(538-540)gaC>gaA	p.D180E	LAMB4_ENST00000418464.1_Missense_Mutation_p.D180E|LAMB4_ENST00000414450.2_Missense_Mutation_p.D180E|LAMB4_ENST00000205386.4_Missense_Mutation_p.D180E|LAMB4_ENST00000388780.3_Missense_Mutation_p.D180E	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	180	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CACAAACAATGTCTCCCACTC	0.398000													26	34					3.80469e-20	4.01035e-20	1	1	0
VPS13A	23230	broad.mit.edu	37	9	79936584	79936584	+	Missense_Mutation	SNP	G	G	A			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr9:79936584G>A	ENST00000360280.3	+	44	6012	c.5752G>A	c.(5752-5754)Gat>Aat	p.D1918N	VPS13A_ENST00000357409.5_Missense_Mutation_p.D1918N|VPS13A_ENST00000376634.4_Missense_Mutation_p.D1918N|VPS13A_ENST00000376636.3_Missense_Mutation_p.D1879N	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1918					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTAAGTATGGATTATATCCG	0.338000													24	35					0	0	1	0	0
CRYAB	1410	broad.mit.edu	37	11	111780950	111780950	+	Missense_Mutation	SNP	G	G	T			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr11:111780950G>T	ENST00000533971.1	-	2	516	c.425C>A	c.(424-426)cCa>cAa	p.P142Q	CRYAB_ENST00000533280.1_Intron|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000227251.3_Intron|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000531198.1_Intron|CRYAB_ENST00000526180.1_Intron|CRYAB_ENST00000525823.1_Intron			P02511	CRYAB_HUMAN	crystallin, alpha B	0					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GTTATGGCTTGGGACTGGAAT	0.418000													6	16					0.00198382	0.00198382	1	1	0
PADI6	353238	broad.mit.edu	37	1	17721722	17721723	+	RNA	DEL	GA	GA	-	rs58784721		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr1:17721722_17721723delGA	ENST00000434762.2	+	0	1545							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	tttgttttttgagagtcttgct	0.485													2	4	---	---	---	---					
PADI6	353238	broad.mit.edu	37	1	17723476	17723477	+	RNA	INS	-	-	CA	rs67024576	by1000genomes	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr1:17723476_17723477insCA	ENST00000434762.2	+	0	1669							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGAATGCACCCAGGTGGCTGG	0.629													5	1	---	---	---	---					
PIK3CA	5290	broad.mit.edu	37	3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr3:178916938_178916940delGAA	ENST00000263967.3	+	2	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	110					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E109del(3)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGGCAACCGTGAAGAAAAGATCC	0.340		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			44	54	---	---	---	---					
NR4A3	8013	broad.mit.edu	37	9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr9:102590616_102590618delCAC	ENST00000330847.1	+	2	369_371	c.325_327delCAC	c.(325-327)cacdel	p.H119del	NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma								8	58	---	---	---	---					
VASN	114990	broad.mit.edu	37	16	4431389	4431391	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr16:4431389_4431391delCTG	ENST00000304735.3	+	2	666_668	c.511_513delCTG	c.(511-513)ctgdel	p.L174del	CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000251166.4_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	174						extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						CCTGCCCCGCCTGCTGCTGCTGG	0.704													2	4	---	---	---	---					
SLC12A4	6560	broad.mit.edu	37	16	67986327	67986340	+	Splice_Site	DEL	GTCTGAAACAAGAA	GTCTGAAACAAGAA	-			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr16:67986327_67986340delGTCTGAAACAAGAA	ENST00000422611.2	-	6	721_722	c.682_683delTTCTTGTTTCAGAC	c.(682-684)ttc>c	p.F228fs	SLC12A4_ENST00000537830.2_Splice_Site_p.F220fs|SLC12A4_ENST00000576616.1_Splice_Site_p.F226fs|SLC12A4_ENST00000338335.3_Splice_Site_p.F226fs|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000572037.1_Splice_Site_p.F178fs|SLC12A4_ENST00000541864.2_Splice_Site_p.F195fs|SLC12A4_ENST00000316341.3_Splice_Site_p.F226fs	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	226					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCAATGTAGGTCTGAAACAAGAAGATGGATAAG	0.449													17	100	---	---	---	---					
PLCD3	113026	broad.mit.edu	37	17	43198453	43198453	+	Frame_Shift_Del	DEL	C	C	-			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr17:43198453delC	ENST00000322765.5	-	3	483	c.370delG	c.(370-372)gagfs	p.E124fs	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	124	PH.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	CGCAGGCCCTCGGACTGGTGG	0.736													2	4	---	---	---	---					
TGIF1	7050	broad.mit.edu	37	18	3452223	3452223	+	Frame_Shift_Del	DEL	T	T	-	rs11571510		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr18:3452223delT	ENST00000330513.5	+	1	549	c.246delT	c.(244-246)cctfs	p.P85fs	TGIF1_ENST00000551402.1_Intron|TGIF1_ENST00000405385.3_Intron|TGIF1_ENST00000548489.2_Intron|TGIF1_ENST00000343820.5_Intron|TGIF1_ENST00000345133.5_Intron|TGIF1_ENST00000551541.1_Intron|TGIF1_ENST00000407501.2_Intron|TGIF1_ENST00000401449.1_Intron|TGIF1_ENST00000577543.1_Intron	NM_170695.2	NP_733796.2	Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	85					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P83fs*51(1)		cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				GCGCCCCCCCTCCTCCACCGG	0.766													13	2	---	---	---	---					
FUT5	2527	broad.mit.edu	37	19	5867346	5867347	+	Frame_Shift_Ins	INS	-	-	GG	rs111394159		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr19:5867346_5867347insGG	ENST00000252675.5	-	5	952_953	c.390_391insCC	c.(388-393)cccagtfs	p.S131fs	FUT5_ENST00000588525.1_Frame_Shift_Ins_p.S131fs			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	131					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						AGGTTGGCACTGGGGTTGTACA	0.663													25	39	---	---	---	---					
