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
FLNC	2318	broad.mit.edu	37	7	128486478	128486478	+	Missense_Mutation	SNP	G	G	C			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr7:128486478G>C	ENST00000325888.8	+	23	4349	c.4088G>C	c.(4087-4089)gGc>gCc	p.G1363A	FLNC_ENST00000346177.6_Missense_Mutation_p.G1363A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1363					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGGAGGGTGGCTTGGTCAAC	0.627000													13	28					0	0	1	0	0
BMP6	654	broad.mit.edu	37	6	7727541	7727541	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr6:7727541A>T	ENST00000283147.6	+	1	512	c.353A>T	c.(352-354)cAg>cTg	p.Q118L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	118					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	p.Q118L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					cagcagcagcagcTGCCTCGC	0.731000													3	26					0	0	1	0	0
RAB38	23682	broad.mit.edu	37	11	87882992	87882992	+	Missense_Mutation	SNP	A	A	C			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr11:87882992A>C	ENST00000243662.6	-	2	416	c.334T>G	c.(334-336)Tta>Gta	p.L112V		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	112					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GGGAGACTTAACTTGGAGTCC	0.463000													41	87					0	0	1	0	0
IGHG3	0	broad.mit.edu	37	14	106235678	106235678	+	RNA	SNP	T	T	C			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr14:106235678T>C	ENST00000390551.2	-	0	1028																											CACCTGCTCTTGTCCACGGTG	0.597000													8	155					0	0	1	0	0
RLIM	51132	broad.mit.edu	37	X	73811938	73811938	+	Silent	SNP	G	G	C	rs61754468	by1000genomes	TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413000													4	39					0	0	1	0	0
IGSF9	57549	broad.mit.edu	37	1	159901298	159901298	+	Silent	SNP	G	G	A			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr1:159901298G>A	ENST00000368094.1	-	12	1655	c.1458C>T	c.(1456-1458)tgC>tgT	p.C486C	IGSF9_ENST00000493195.1_Intron|IGSF9_ENST00000361509.3_Silent_p.C470C	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	486	Ig-like 5.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			TGCTGGCACTGCATTCCCAGT	0.642000													3	34					0	0	1	0	0
CYP2D7P1	0	broad.mit.edu	37	22	42538870	42538870	+	RNA	SNP	A	A	C	rs2982057	by1000genomes	TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr22:42538870A>C	ENST00000358097.4	-	0	449				CYP2D7P1_ENST00000424775.1_RNA|CYP2D7P1_ENST00000433992.1_RNA																endometrium(1)	1						CCATAGCGCGACAGGAACACC	0.687000													3	17					0	0	1	0	0
FGF18	8817	broad.mit.edu	37	5	170863117	170863117	+	Silent	SNP	C	C	T			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr5:170863117C>T	ENST00000274625.5	+	3	634	c.90C>T	c.(88-90)aaC>aaT	p.N30N		NM_003862.2	NP_003853.1	O76093	FGF18_HUMAN	fibroblast growth factor 18	30					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCGAGGAGAACGTGGACTTCC	0.632000													7	28					0	0	1	0	0
HLA-A	3105	broad.mit.edu	37	6	29910693	29910693	+	Missense_Mutation	SNP	A	A	G	rs41559716	by1000genomes	TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr6:29910693A>G	ENST00000396634.1	+	4	574	c.233A>G	c.(232-234)cAg>cGg	p.Q78R	HLA-A_ENST00000376802.2_Missense_Mutation_p.Q78R|HLA-A_ENST00000376806.5_Missense_Mutation_p.Q78R|HLA-A_ENST00000376809.5_Missense_Mutation_p.Q78R			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	78	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity	p.Q78R(2)		central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						TGGATAGAGCAGGAGGGGCCG	0.657000									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			5	14					0	0	1	0	0
BPI	671	broad.mit.edu	37	20	36954747	36954747	+	Silent	SNP	C	C	G			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr20:36954747C>G	ENST00000262865.4	+	10	1175	c.1086C>G	c.(1084-1086)acC>acG	p.T362T	BPI_ENST00000489102.1_3'UTR|CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	362					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TGCAGCCCACCGGCCTTACCT	0.592000													7	9					0	0	1	0	0
PDGFRA	5156	broad.mit.edu	37	4	55153609	55153609	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr4:55153609G>A	ENST00000257290.5	+	19	2906	c.2575G>A	c.(2575-2577)Gtg>Atg	p.V859M	FIP1L1_ENST00000507166.1_Missense_Mutation_p.V619M	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	859	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTTTCTGCCCGTGAAGTGGAT	0.502000			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			25	75					0	0	1	0	0
PRDM4	11108	broad.mit.edu	37	12	108133200	108133200	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr12:108133200G>A	ENST00000228437.5	-	11	2512	c.2053C>T	c.(2053-2055)Cgg>Tgg	p.R685W	RP11-864J10.4_ENST00000546714.1_RNA	NM_012406.3	NP_036538.3	Q9UKN5	PRDM4_HUMAN	PR domain containing 4	685					cell proliferation|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)|skin(2)|urinary_tract(1)	20						TCCTGCCTCCGCATAAACAAC	0.517000													3	41					0	0	1	0	0
GNA11	2767	broad.mit.edu	37	19	3118942	3118942	+	Missense_Mutation	SNP	A	A	T			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr19:3118942A>T	ENST00000078429.4	+	5	868	c.626A>T	c.(625-627)cAg>cTg	p.Q209L	GNA11_ENST00000586180.1_3'UTR|AC005262.3_ENST00000587701.1_RNA	NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	209					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.Q209L(80)|p.Q209P(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		GTGGGGGGCCAGCGGTCGGAG	0.612000			Mis		uveal melanoma								22	34					0	0	1	0	0
ZNF555	148254	broad.mit.edu	37	19	2852695	2852695	+	Missense_Mutation	SNP	G	G	A			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr19:2852695G>A	ENST00000334241.4	+	4	770	c.632G>A	c.(631-633)cGt>cAt	p.R211H	ZNF555_ENST00000591539.1_Missense_Mutation_p.R210H|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	211					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R211L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACCTTTCCTCGTACTTCCTCC	0.448000													26	43					0	0	1	0	0
PRSS3P2	0	broad.mit.edu	37	7	142482025	142482025	+	RNA	DEL	A	A	-			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr7:142482025delA	ENST00000603901.1	+	0	591					NR_001296.3																						TGCAGTGCCCACATGGAGAAG	0.572													2	4	---	---	---	---					
PCGF6	84108	broad.mit.edu	37	10	105073982	105073983	+	Frame_Shift_Ins	INS	-	-	A			TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr10:105073982_105073983insA	ENST00000369847.3	-	9	1023_1024	c.956_957insT	c.(955-957)ctafs	p.L319fs	PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_Frame_Shift_Ins_p.L244fs	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	319					negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		GGATTTCCCTTAGAGTTTGATA	0.381													33	84	---	---	---	---					
SLC23A2	9962	broad.mit.edu	37	20	4850569	4850569	+	Frame_Shift_Del	DEL	G	G	-	rs138961929		TCGA-V4-A9F3-01A-11D-A39W-08	TCGA-V4-A9F3-10A-01D-A39Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	db55542d-beda-4fca-940d-069ce03a806b	fc14e8c5-08c0-42ef-b693-432d1b2aed45	g.chr20:4850569delG	ENST00000379333.1	-	12	1625	c.1233delC	c.(1231-1233)cccfs	p.P411fs	SLC23A2_ENST00000424750.2_Frame_Shift_Del_p.P297fs|SLC23A2_ENST00000338244.1_Frame_Shift_Del_p.P411fs|SLC23A2_ENST00000468355.1_5'UTR	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	411					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity	p.I412fs*4(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTGCGTGGATGGGGGGGGGTG	0.527													7	41	---	---	---	---					
