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
VPS13A	23230	broad.mit.edu	37	9	79936584	79936584	+	Missense_Mutation	SNP	G	A	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	uc004akr.3	+	43	6012	c.5752G>A	c.(5752-5754)Gat>Aat	p.D1918N	VPS13A_uc004akp.4_Missense_Mutation_p.D1918N|VPS13A_uc004akq.4_Missense_Mutation_p.D1918N|VPS13A_uc004aks.3_Missense_Mutation_p.D1879N|VPS13A_uc004akt.3_Missense_Mutation_p.D258N	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	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														35			24		0	0	1	0	0
SCN10A	6336	broad.mit.edu	37	3	38739794	38739794	+	Silent	SNP	G	A	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	uc003ciq.3	-	26	4917	c.4917C>T	c.(4915-4917)gaC>gaT	p.D1639D		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	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														69			71		0	0	1	0	0
TTC7A	57217	broad.mit.edu	37	2	47220609	47220609	+	Missense_Mutation	SNP	G	A	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	uc010fbb.3	+	5	1153	c.785G>A	c.(784-786)aGa>aAa	p.R262K	TTC7A_uc002rvm.3_Missense_Mutation_p.R228K|TTC7A_uc002rvn.1_Missense_Mutation_p.R143K|TTC7A_uc002rvo.3_Missense_Mutation_p.R262K|TTC7A_uc010fbc.3_5'UTR|TTC7A_uc002rvp.3_Missense_Mutation_p.R143K|TTC7A_uc002rvq.3_Missense_Mutation_p.R2K|TTC7A_uc002rvr.3_5'Flank	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	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														47			46		0	0	1	0	0
LOC645752	645752	broad.mit.edu	37	15	78211148	78211148	+	Missense_Mutation	SNP	C	T	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	uc010bky.2	-	10	1383	c.619G>A	c.(619-621)Gac>Aac	p.D207N						Homo sapiens golgi autoantigen, golgin subfamily a, 6 pseudogene (LOC645752), non-coding RNA.																		AGCTGCTTGTCGAGCTTGTGG	0.597000														65			5		0	0	1	0	0
GLIS2	84662	broad.mit.edu	37	16	4383346	4383346	+	Splice_Site	SNP	A	G	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	uc002cwc.1	+	2	239	c.173_splice	c.e2-2	p.G58_splice		NM_032575	NP_115964	Q9BZE0	GLIS2_HUMAN	Homo sapiens GLIS family zinc finger 2 (GLIS2), mRNA.	58	Interaction with CTNND1 (By similarity).				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														40			3		0	0	1	0	0
OR6Q1	219952	broad.mit.edu	37	11	57799000	57799000	+	Silent	SNP	G	A	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	uc010rjz.2	+	0	576	c.576G>A	c.(574-576)tcG>tcA	p.S192S	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S192L(1)		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														61			65		0	0	1	0	0
LAMB4	22798	broad.mit.edu	37	7	107748127	107748127	+	Missense_Mutation	SNP	G	T	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	uc010ljo.1	-	5	624	c.540C>A	c.(538-540)gaC>gaA	p.D180E	LAMB4_uc003vey.2_Missense_Mutation_p.D180E	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	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														34			26		3.80469e-20	3.98166e-20	1	1	0
PCLO	27445	broad.mit.edu	37	7	82784608	82784608	+	Missense_Mutation	SNP	G	T	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.chr7:82784608G>T	uc003uhx.2	-	1	1638	c.1349C>A	c.(1348-1350)cCa>cAa	p.P450Q	PCLO_uc003uhv.2_Missense_Mutation_p.P450Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	401	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|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						CTGTTGAGCTGGAATCTTTCC	0.577000														65			47		1.63429e-32	1.75102e-32	1	1	0
CMKLR1	1240	broad.mit.edu	37	12	108685742	108685742	+	Missense_Mutation	SNP	C	T	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	uc009zuw.3	-	2	1189	c.998G>A	c.(997-999)cGc>cAc	p.R333H	CMKLR1_uc001tmw.3_Missense_Mutation_p.R333H|CMKLR1_uc001tmv.3_Missense_Mutation_p.R331H|CMKLR1_uc009zuv.3_Missense_Mutation_p.R333H|CMKLR1_uc021rdj.1_Missense_Mutation_p.R331H	NM_001142345	NP_004063	Q99788	CML1_HUMAN	Homo sapiens chemokine-like receptor 1 (CMKLR1), transcript variant 4, mRNA.	333					chemotaxis|immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of interleukin-12 production|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														54			29		0	0	1	0	0
SLITRK6	84189	broad.mit.edu	37	13	86370348	86370348	+	Missense_Mutation	SNP	T	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.chr13:86370348T>C	uc001vll.1	-	1	755	c.296A>G	c.(295-297)aAt>aGt	p.N99S	SLITRK6_uc021rla.1_Missense_Mutation_p.N99S	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	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														20			73		0	0	1	0	0
UGT2B10	7365	broad.mit.edu	37	4	69870721	69870721	+	Silent	SNP	A	G	G	rs150703910	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.chr4:69870721A>G	uc011cao.1	-	7	1434	c.1308T>C	c.(1306-1308)caT>caC	p.H436H	UGT2B10_uc011can.1_Silent_p.H352H			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	480					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						AGGTGAGGTCATGGGCTGCAA	0.478000														92			5		0	0	1	0	0
MGC70870	403340	broad.mit.edu	37	GL000205.1	117012	117012	+	RNA	SNP	C	A	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.chrGL000205.1:117012C>A	uc002kgk.4	+	0		c.390C>A								Homo sapiens C-terminal binding protein 2 pseudogene (MGC70870), non-coding RNA.																		ACCAAAGAAGCTGTATTCCCT	0.478000														12			5		0.000602214	0.000615901	1	1	0
IDH2	3418	broad.mit.edu	37	15	90631838	90631838	+	Missense_Mutation	SNP	C	T	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	uc002box.3	-	3	601	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_uc010uqb.2_Missense_Mutation_p.R120K|IDH2_uc010uqc.2_Missense_Mutation_p.R42K	NM_002168	NP_002159	P48735	IDHP_HUMAN	Homo sapiens isocitrate dehydrogenase 2 (NADP+), mitochondrial (IDH2), nuclear gene encoding mitochondrial protein, mRNA.	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	NAD binding|isocitrate dehydrogenase (NADP+) activity|magnesium ion binding	p.R172K(358)|p.R172M(44)|p.R172S(18)|p.R172W(16)|p.R172?(13)|p.R172G(5)|p.G171D(4)|p.R172N(2)|p.R172L(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									30			34		0	0	1	0	0
PMS2P4	5382	broad.mit.edu	37	7	66764392	66764392	+	RNA	SNP	T	C	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	uc003tvo.2	-	1		c.64A>G			PMS2P4_uc003tvq.3_Non-coding_Transcript|PMS2P4_uc003tvr.4_Non-coding_Transcript|PMS2P4_uc003tvs.4_Non-coding_Transcript					Homo sapiens postmeiotic segregation increased 2 pseudogene 4 (PMS2P4), non-coding RNA.																		ATAGGTTTGATGGCCTTAGCA	0.418000														229			9		0	0	1	0	0
AGPS	8540	broad.mit.edu	37	2	178386040	178386040	+	Missense_Mutation	SNP	T	G	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	uc002ull.2	+	17	1788	c.1741T>G	c.(1741-1743)Ttt>Gtt	p.F581V	AGPS_uc010zfb.1_Missense_Mutation_p.F491V	NM_003659	NP_003650	O00116	ADAS_HUMAN	Homo sapiens alkylglycerone phosphate synthase (AGPS), mRNA.	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														67			33		0	0	1	0	0
TINAG	27283	broad.mit.edu	37	6	54191662	54191662	+	Missense_Mutation	SNP	G	A	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	uc003pcj.2	+	3	718	c.572G>A	c.(571-573)cGc>cAc	p.R191H	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	191					Malpighian tubule morphogenesis|cell adhesion|immune response|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.R191H(2)|p.R191L(2)|p.R191C(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														54			30		0	0	1	0	0
SBSN	374897	broad.mit.edu	37	19	36018407	36018407	+	Silent	SNP	T	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.chr19:36018407T>C	uc002oad.2	-	0	847	c.777A>G	c.(775-777)agA>agG	p.R259R	SBSN_uc002oae.2_Intron|SBSN_uc021usp.1_Intron	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	132						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGGCCAAATCTCCCTGCCT	0.627000														6			3		0	0	1	0	0
CACNA1G	8913	broad.mit.edu	37	17	48703456	48703456	+	Missense_Mutation	SNP	T	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.chr17:48703456T>C	uc002irk.1	+	37	6850	c.6478T>C	c.(6478-6480)Tcc>Ccc	p.S2160P	CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Missense_Mutation_p.S2044P|CACNA1G_uc002irm.1_Missense_Mutation_p.S2081P|CACNA1G_uc002irn.1_Missense_Mutation_p.S2026P|CACNA1G_uc002iro.1_Missense_Mutation_p.S2033P|CACNA1G_uc002irp.1_Missense_Mutation_p.S2115P|CACNA1G_uc002irq.1_Missense_Mutation_p.S2137P|CACNA1G_uc002irr.1_Missense_Mutation_p.S2067P|CACNA1G_uc002irs.1_Missense_Mutation_p.S2104P|CACNA1G_uc002irt.1_Missense_Mutation_p.S2049P|CACNA1G_uc002iru.1_Missense_Mutation_p.S2126P|CACNA1G_uc002irv.1_Missense_Mutation_p.S2056P|CACNA1G_uc002irw.1_Missense_Mutation_p.S2089P|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002isg.1_Missense_Mutation_p.S1928P|CACNA1G_uc002ish.1_Missense_Mutation_p.S1935P|CACNA1G_uc002isi.1_Missense_Mutation_p.S1923P|CACNA1G_uc002irz.1_Missense_Mutation_p.S1973P|CACNA1G_uc002isa.1_Missense_Mutation_p.S1946P|CACNA1G_uc002isd.1_Missense_Mutation_p.S1955P|CACNA1G_uc002isb.1_Missense_Mutation_p.S1987P|CACNA1G_uc002isc.1_Missense_Mutation_p.S2062P|CACNA1G_uc002ise.1_Missense_Mutation_p.S1983P|CACNA1G_uc002isf.1_Missense_Mutation_p.S2010P	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	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)		31			6		0	0	1	0	0
TRIM9	114088	broad.mit.edu	37	14	51448645	51448645	+	Missense_Mutation	SNP	G	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.chr14:51448645G>C	uc001wyx.4	-	7	2545	c.1780C>G	c.(1780-1782)Cct>Gct	p.P594A	TRIM9_uc001wyy.2_Missense_Mutation_p.P675A	NM_015163	NP_055978	Q9C026	TRIM9_HUMAN	Homo sapiens tripartite motif containing 9 (TRIM9), transcript variant 1, mRNA.	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														53			41		0	0	1	0	0
SLC37A3	84255	broad.mit.edu	37	7	140058508	140058508	+	Silent	SNP	G	A	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	uc003vvo.3	-	5	619	c.453C>T	c.(451-453)aaC>aaT	p.N151N	SLC37A3_uc003vvp.3_Silent_p.N151N|SLC37A3_uc010lnh.3_Silent_p.N151N|SLC37A3_uc011kqz.2_Intron|SLC37A3_uc011kra.1_Silent_p.N151N|SLC37A3_uc011krb.1_Silent_p.N123N	NM_207113	NP_996996	Q8NCC5	SPX3_HUMAN	Homo sapiens solute carrier family 37 (glycerol-3-phosphate transporter), member 3 (SLC37A3), transcript variant 1, mRNA.	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														92			61		0	0	1	0	0
UTP14C	9724	broad.mit.edu	37	13	52605154	52605154	+	Nonsense_Mutation	SNP	C	G	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	uc001vgb.3	+	1	2776	c.2214C>G	c.(2212-2214)taC>taG	p.Y738*	UTP14C_uc001vga.3_3'UTR|UTP14C_uc001vgc.3_Non-coding_Transcript|UTP14C_uc021rjw.1_Nonsense_Mutation_p.Y738*	NM_021645	NP_067677	Q5TAP6	UT14C_HUMAN	Homo sapiens UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast) (UTP14C), mRNA.	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														72			4		0	0	1	0	0
BC107568	0	broad.mit.edu	37	GL000195.1	138078	138078	+	RNA	SNP	T	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.chrGL000195.1:138078T>C	uc003won.1	+	0		c.112T>C								Homo sapiens cDNA clone IMAGE:3683736.																		TGTTGCCCTGTGATCTGTAGG	0.597000														3			2		0	0	1	0	0
PSMD4	5710	broad.mit.edu	37	1	151237660	151237660	+	Missense_Mutation	SNP	C	T	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	uc001exl.3	+	4	450	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C		NM_002810	NP_002801	P55036	PSMD4_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4), mRNA.	130	VWFA.				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|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|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|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														19			4		0	0	1	0	0
PRSS3P2	154754	broad.mit.edu	37	7	142481789	142481789	+	Silent	SNP	T	C	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	uc011ksq.2	+	3	551	c.468T>C	c.(466-468)gaT>gaC	p.D156D	TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|BV6S4-BJ2S2_uc003wan.1_Intron					Homo sapiens protease, serine, 3 pseudogene (TRY6), non-coding RNA.																		ACTACCCAGATGAGCTGCAGT	0.488000														66			6		0	0	1	0	0
AK301679	0	broad.mit.edu	37	17	18343609	18343609	+	RNA	SNP	T	G	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.chr17:18343609T>G	uc010vya.1	+	0		c.388T>G								Homo sapiens cDNA FLJ56791 complete cds, highly similar to Keratin, type I cytoskeletal 16.																		ctggcttgggtggtggcttTG	0.622000														26			8		0	0	1	0	0
POTEC	388468	broad.mit.edu	37	18	14543092	14543092	+	Silent	SNP	G	A	A	rs45502401		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.chr18:14543092G>A	uc010dln.3	-	0	508	c.54C>T	c.(52-54)ttC>ttT	p.F18F	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	18										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCCTGAGATCGAATGGCTTCT	0.572000														59			6		0	0	1	0	0
CIC	23152	broad.mit.edu	37	19	42791757	42791757	+	Missense_Mutation	SNP	C	T	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	uc002otf.1	+	4	683	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(8)|p.R215Q(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)				CAAGCGGCACCGGGCCCTGGT	0.612000			"""Mis, F, S"""		oligodendroglioma									10			36		0	0	1	0	0
RRN3P1	730092	broad.mit.edu	37	16	21817457	21817457	+	Silent	SNP	G	A	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	uc010vbl.1	-	6	603	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L	LOC23117_uc021tel.1_Intron					Homo sapiens RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 1 (RRN3P1), non-coding RNA.																		CTTACATCCAGCTTGAGTAGT	0.259000														17			4		0	0	1	0	0
FRG1B	284802	broad.mit.edu	37	20	29614328	29614328	+	Splice_Site	SNP	G	A	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	uc010ztk.1	+	1	67	c.-6_splice	c.e1+1		FRG1B_uc002wvm.1_Splice_Site|FRG1B_uc010ztj.1_Splice_Site|FRG1B_uc010gdr.1_Splice_Site					Homo sapiens FSHD region gene 1 family, member B (FRG1B), non-coding RNA.											endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						TGATACGTTGGTGAGTCAGTT	0.289000														23			4		0	0	1	0	0
DVL2	1856	broad.mit.edu	37	17	7132713	7132713	+	Silent	SNP	T	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.chr17:7132713T>C	uc002gez.1	-	6	1083	c.801A>G	c.(799-801)acA>acG	p.T267T	DVL2_uc010vtr.1_Silent_p.T261T|DVL2_uc010vts.1_Missense_Mutation_p.S179G|DVL2_uc010clz.1_3'UTR	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	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														55			37		0	0	1	0	0
PIK3CA	5290	broad.mit.edu	37	3	178916938	178916940	+	In_Frame_Del	DEL	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	uc003fjk.3	+	1	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	110					T cell costimulation|T cell receptor signaling pathway|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		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E109del(6)|p.E110K(4)|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)			---	54	---	---	44	---					
NR4A3	8013	broad.mit.edu	37	9	102590616	102590618	+	In_Frame_Del	DEL	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	uc022bky.1	+	3	1093_1095	c.325_327delCAC	c.(325-327)cacdel	p.H119del	NR4A3_uc004bae.3_In_Frame_Del_p.H108del|NR4A3_uc004baf.1_In_Frame_Del_p.H108del	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	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								---	58	---	---	8	---					
VASN	114990	broad.mit.edu	37	16	4431389	4431391	+	In_Frame_Del	DEL	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	uc021tch.1	+	0	511_513	c.511_513delCTG	c.(511-513)ctgdel	p.L174del	CORO7-PAM16_uc002cwe.3_Intron|CORO7-PAM16_uc002cwf.3_Intron|CORO7-PAM16_uc002cwg.4_Intron|CORO7-PAM16_uc002cwh.4_Intron|CORO7-PAM16_uc010uxh.2_Intron|CORO7-PAM16_uc010uxi.2_Intron|CORO7-PAM16_uc002cwi.1_Intron|CORO7-PAM16_uc010uxj.1_Intron|CORO7-PAM16_uc010btp.1_Intron|VASN_uc002cwj.1_In_Frame_Del_p.L174del	NM_138440	NP_612449	Q6EMK4	VASN_HUMAN	Homo sapiens vasorin (VASN), mRNA.	174						extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						CCTGCCCCGCCTGCTGCTGCTGG	0.704													---	4	---	---	2	---					
SLC12A4	6560	broad.mit.edu	37	16	67986327	67986340	+	Splice_Site	DEL	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	uc010vkj.1	-	6	722	c.682_splice	c.e6-1	p.T228_splice	SLC12A4_uc010ceu.2_Splice_Site_p.T220_splice|SLC12A4_uc010vkh.1_Splice_Site_p.T195_splice|SLC12A4_uc002euz.2_Splice_Site_p.T226_splice|SLC12A4_uc010vki.1_Splice_Site_p.T226_splice|SLC12A4_uc002eva.2_Splice_Site_p.T226_splice|SLC12A4_uc002evb.2_Splice_Site|SLC12A4_uc010cew.1_Splice_Site_p.R147_splice	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	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													---	100	---	---	17	---					
PLCD3	113026	broad.mit.edu	37	17	43198453	43198453	+	Frame_Shift_Del	DEL	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	uc002iib.3	-	2	484	c.370delG	c.(370-372)gagfs	p.E124fs		NM_133373	NP_588614	Q8N3E9	PLCD3_HUMAN	Homo sapiens phospholipase C, delta 3 (PLCD3), mRNA.	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													---	4	---	---	2	---					
TGIF1	7050	broad.mit.edu	37	18	3452223	3452223	+	Frame_Shift_Del	DEL	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	uc002klz.3	+	0	633	c.246delT	c.(244-246)cctfs	p.P82fs	TGIF1_uc002klu.3_Intron|TGIF1_uc002klv.3_Intron|TGIF1_uc002klx.3_Intron|TGIF1_uc002klw.3_Intron|TGIF1_uc010dkm.1_Intron|TGIF1_uc002kly.3_Intron|TGIF1_uc002kma.3_Intron|TGIF1_uc002kmb.3_5'Flank	NM_170695	NP_777480	Q15583	TGIF1_HUMAN	Homo sapiens TGFB-induced factor homeobox 1 (TGIF1), transcript variant 1, mRNA.	82					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													---	2	---	---	13	---					
FUT5	2527	broad.mit.edu	37	19	5867346	5867347	+	Frame_Shift_Ins	INS	-	GG	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	uc002mdo.4	-	1	561_562	c.390_391insCC	c.(388-393)cccagtfs	p.P130fs	FUT5_uc010duo.3_Frame_Shift_Ins_p.P130fs|FUT5_uc021uno.1_Frame_Shift_Ins_p.P130fs	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	130					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													---	39	---	---	25	---					
RPS26P11	441502	broad.mit.edu	37	X	71264810	71264810	+	Splice_Site	DEL	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.chrX:71264810delA	uc004eai.3	+	1		c.553_splice	c.e1+1		NHSL2_uc011mqa.2_Intron					Homo sapiens ribosomal protein S26 pseudogene 11 (RPS26P11), non-coding RNA.											endometrium(1)|lung(1)|prostate(2)	4						AATTGTACTTAAAAAAAAAAA	0.448													---	4	---	---	2	---					
