Home

Download

Statistics

Examples

Help

Contact

	Gene Summary
	Translation studies in PubMed
	Exon Skipping Events
	Expression
	Expression Regulation
	Associated Genes
	Protein 3D Structure
	Protein-Protein Interaction
	Mutations
	Prognostic Analysis
	Gender Association
	Age Association
	Related Drugs
	Related Diseases

Translation Factor: DHFR (NCBI Gene ID:1719)

Gene Summary

Gene Summary

Gene Information	Gene Name: DHFR
	Gene ID: 1719
	Gene Symbol	DHFR
	Gene ID	1719
	Gene Name	dihydrofolate reductase
	Synonyms	DHFRP1\|DYR
	Cytomap	5q14.1
	Type of Gene	protein-coding
	Description	dihydrofolate reductase
	Modification date	20200315
	UniProtAcc	P00374

Child GO biological process term(s) under GO:0006412

GO ID	GO term
GO:0017148	Negative regulation of translation
GO:0006417	Regulation of translation
GO:0006412	Translation

Gene ontology of translaction factor with evidence of Inferred from Direct Assay (IDA) from Entrez

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	DHFR	GO:0017148	negative regulation of translation	8490020
Hgene	DHFR	GO:0046452	dihydrofolate metabolic process	2303423\|23707606
Hgene	DHFR	GO:0046653	tetrahydrofolate metabolic process	12096917\|21876184
Hgene	DHFR	GO:0046654	tetrahydrofolate biosynthetic process	2303423
Hgene	DHFR	GO:0055114	oxidation-reduction process	23707606

Inferred gene age of translation factor.

Gene	Inferred gene age group among (0 - 67.6], (67.6 - 355.7], (355.7 - 733], (733 - 1119.25], >1119.25
DHFR	>1119.25

Top

Translation Studies in PubMed

We searched PubMed using 'DHFR[title] AND translation [title] AND human.'

Gene	Title	PMID
DHFR	.	.

Top

Exon Skipping Events

Skipped exons in TCGA and GTEx based on Ensembl gene isoform structure.
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.
For more annotations, please visit our ExonSkipDB.

Open reading frame (ORF) analsis of exon skipping events based on Ensembl gene isoform structure.
* Click on the break point to see the gene structure around the break point region using the UCSC Genome Browser.

ENST	Exon skip start (DNA)	Exon Skip end (DNA)	ORF
ENST00000439211	79929695	79929811	Frame-shift
ENST00000505337	79929695	79929811	Frame-shift
ENST00000439211	79933701	79933828	Frame-shift
ENST00000505337	79933701	79933828	Frame-shift
ENST00000505337	79949826	79949876	Frame-shift

Exon skipping position in the amino acid sequence.

ENST

Exon skip start (DNA)

Exon Skip end (DNA)

Len(transcript seq)

Exon skip start (mRNA)

Exon Skip end (mRNA)

Len(amino acid seq)

Exon skip start (AA)

Exon Skip end (AA)

Potentially (partially) lost protein functional features of UniProt.

UniProtAcc

Exon skip start (AA)

Exon Skip end (AA)

Function feature start (AA)

Function feature end (AA)

Functional feature type

Functional feature desc.

Top

Expression

Gene expression level across TCGA pancancer

Gene expression level across GTEx pantissue

Expression level of gene isoforms across TCGA pancancer

Expression level of gene isoforms across GTEx pantissue

Cancer(tissue) type-specific expression level of Translation factor using z-score distriution

Differential expression between tumor and matched normal (in the cancer types with more than 10 matched samples)

Cancer type	Translation factor	FC	adj.pval
KICH	DHFR	1.84898875578222	0.000120222568511963
PRAD	DHFR	-1.13763544630147	0.000693018123481419
KIRP	DHFR	1.92771023073588	0.00256496202200651
KIRC	DHFR	1.39030277719069	0.0102479184635793
LIHC	DHFR	-1.09573134458673	0.0138324207211816
COAD	DHFR	1.20329354568984	0.0151321291923523
ESCA	DHFR	-5.80161159904324	0.0244140625
UCEC	DHFR	-2.25711809833131	0.03125
LUAD	DHFR	-2.43762628319186	1.73612226412662e-08
LUSC	DHFR	-2.93769159897646	4.06130956907036e-08

Top

Expression Regulation

Translation factor expression regulation through miRNA binding

Cancer type	Gene	miRNA	TargetScan binding score (Context++ score percentile)	Coefficient	Pvalue
PCPG	DHFR	hsa-miR-532-5p	98	0.3884858812074	0.000444794739386317

Translation factor expression regulation through methylation in the promoter of Translation factor

Cancer type

Gene

methyl group b

methyl group a

DEG pval

avg methyl in b

avg methyl in a

avg exp in b

avg exp in a

Translation factor expression regulation through methylation in the gene body of Translation factor (positive regulation)

Cancer type

Gene

methyl group b

methyl group a

DEG pval

avg methyl in b

avg methyl in a

avg exp in b

avg exp in a

Translation factor expression regulation through copy number variation of Translation factor

Cancer type	Gene	Coefficient	Pvalue
KIRP	DHFR	0.023969822	0.049949889

Top

Associated Genes

Strongly correlated genes belong to cellular important gene groups with DHFR (coefficient>0.8, pval<0.05, node color based on FC between tumor and matched normal). Significantly associated important genes in the individual cancer types. * Cell metabolism gene: cell metabolism genes from REACTOME (black edge), IUPHAR: drug target genes from IUPHAR (blue edge), Kinase: human kinase genes (brown edge), CGC: cancer gene census genes (orange edge), TSG: tumor suppresor genes (purple edge), Epifactor: epigenetic factors (light blue edge), TF: transcription factors (green)

Cancer type	Gene group	Translation factor	Correlated gene	Coefficient	Pvalue
DLBC	CGC	DHFR	BRCA1	0.806601155	4.50E-12
DLBC	Epifactor	DHFR	BRCA1	0.806601155	4.50E-12
DLBC	TSG	DHFR	BRCA1	0.806601155	4.50E-12
THYM	Cell metabolism gene	DHFR	DGKA	0.805131652	5.35E-29
THYM	Cell metabolism gene	DHFR	CD38	0.805769909	4.49E-29
THYM	Cell metabolism gene	DHFR	ACAT2	0.806397708	3.77E-29
THYM	Cell metabolism gene	DHFR	EDEM1	0.807268361	2.96E-29
THYM	Cell metabolism gene	DHFR	IDH2	0.810655755	1.14E-29
THYM	Cell metabolism gene	DHFR	PPP2CA	0.814037083	4.30E-30
THYM	Cell metabolism gene	DHFR	MTHFD1	0.821678665	4.42E-31
THYM	Cell metabolism gene	DHFR	PAFAH2	0.826337002	1.05E-31
THYM	Cell metabolism gene	DHFR	SLC23A1	0.828490966	5.30E-32
THYM	Cell metabolism gene	DHFR	RRM1	0.836226646	4.24E-33
THYM	Cell metabolism gene	DHFR	DCK	0.838855292	1.75E-33
THYM	Cell metabolism gene	DHFR	PRIM2	0.849402235	4.19E-35
THYM	Cell metabolism gene	DHFR	RRM2	0.84966894	3.80E-35
THYM	Cell metabolism gene	DHFR	DNMT3B	0.850530894	2.76E-35
THYM	Cell metabolism gene	DHFR	POLE2	0.853784877	8.16E-36
THYM	Cell metabolism gene	DHFR	PDE7A	0.857111886	2.28E-36
THYM	Cell metabolism gene	DHFR	HMMR	0.940743296	3.39E-58
THYM	CGC	DHFR	SFPQ	0.801939707	1.28E-28
THYM	CGC	DHFR	MYB	0.808141726	2.32E-29
THYM	CGC	DHFR	BRIP1	0.810032482	1.36E-29
THYM	CGC	DHFR	IDH2	0.810655755	1.14E-29
THYM	CGC	DHFR	BCL11B	0.81975955	7.91E-31
THYM	CGC	DHFR	MLLT11	0.821460512	4.72E-31
THYM	CGC	DHFR	BRCA1	0.82201733	3.99E-31
THYM	CGC	DHFR	CDKN2C	0.827525963	7.20E-32
THYM	CGC	DHFR	HNRNPA2B1	0.83398551	8.94E-33
THYM	CGC	DHFR	TCF3	0.834054324	8.74E-33
THYM	CGC	DHFR	FNBP1	0.837419274	2.84E-33
THYM	CGC	DHFR	FANCD2	0.84173698	6.47E-34
THYM	CGC	DHFR	RFWD3	0.852685929	1.24E-35
THYM	CGC	DHFR	RAP1GDS1	0.878290795	2.90E-40
THYM	CGC	DHFR	EZH2	0.885193983	1.08E-41
THYM	CGC	DHFR	BLM	0.894956662	7.03E-44
THYM	CGC	DHFR	POLQ	0.911586927	3.76E-48
THYM	CGC	DHFR	STIL	0.916632887	1.29E-49
THYM	CGC	DHFR	BUB1B	0.922777413	1.57E-51
THYM	Epifactor	DHFR	SFPQ	0.801939707	1.28E-28
THYM	Epifactor	DHFR	CHEK1	0.802422672	1.12E-28
THYM	Epifactor	DHFR	RAD51	0.802878834	9.93E-29
THYM	Epifactor	DHFR	GFI1	0.807042031	3.15E-29
THYM	Epifactor	DHFR	CBX2	0.813486635	5.04E-30
THYM	Epifactor	DHFR	PPP2CA	0.814037083	4.30E-30
THYM	Epifactor	DHFR	BRCA1	0.82201733	3.99E-31
THYM	Epifactor	DHFR	H2AFZ	0.824267557	2.00E-31
THYM	Epifactor	DHFR	ANP32E	0.828664416	5.02E-32
THYM	Epifactor	DHFR	CDK2	0.828675348	5.00E-32
THYM	Epifactor	DHFR	VRK1	0.832347019	1.53E-32
THYM	Epifactor	DHFR	CENPA	0.834599715	7.30E-33
THYM	Epifactor	DHFR	ASF1B	0.840405087	1.03E-33
THYM	Epifactor	DHFR	UBR7	0.84251218	4.94E-34
THYM	Epifactor	DHFR	CBX3	0.843248979	3.82E-34
THYM	Epifactor	DHFR	CDC6	0.845382105	1.79E-34
THYM	Epifactor	DHFR	CHAF1A	0.849127881	4.63E-35
THYM	Epifactor	DHFR	UBE2T	0.849751509	3.68E-35
THYM	Epifactor	DHFR	TAF5	0.849889615	3.50E-35
THYM	Epifactor	DHFR	DNMT3B	0.850530894	2.76E-35
THYM	Epifactor	DHFR	H2AFY	0.853237948	1.00E-35
THYM	Epifactor	DHFR	PCNA	0.857192088	2.21E-36
THYM	Epifactor	DHFR	PBK	0.858701645	1.22E-36
THYM	Epifactor	DHFR	UHRF1	0.867865374	2.91E-38
THYM	Epifactor	DHFR	ATAD2	0.874920003	1.34E-39
THYM	Epifactor	DHFR	HJURP	0.880257353	1.16E-40
THYM	Epifactor	DHFR	TTK	0.880751411	9.18E-41
THYM	Epifactor	DHFR	HELLS	0.882411812	4.16E-41
THYM	Epifactor	DHFR	EZH2	0.885193983	1.08E-41
THYM	Epifactor	DHFR	AURKA	0.890738774	6.56E-43
THYM	Epifactor	DHFR	CDK1	0.891255093	5.01E-43
THYM	Epifactor	DHFR	GSG2	0.892493489	2.62E-43
THYM	Epifactor	DHFR	TOP2A	0.913711833	9.32E-49
THYM	Epifactor	DHFR	BUB1	0.931760086	1.23E-54
THYM	Epifactor	DHFR	WHSC1	0.933415397	2.97E-55
THYM	IUPHAR	DHFR	RASGRP1	0.801174417	1.58E-28
THYM	IUPHAR	DHFR	CHEK1	0.802422672	1.12E-28
THYM	IUPHAR	DHFR	CD38	0.805769909	4.49E-29
THYM	IUPHAR	DHFR	EPB41	0.806231858	3.95E-29
THYM	IUPHAR	DHFR	ACAT2	0.806397708	3.77E-29
THYM	IUPHAR	DHFR	CHRNB4	0.809158237	1.74E-29
THYM	IUPHAR	DHFR	IDH2	0.810655755	1.14E-29
THYM	IUPHAR	DHFR	CYP2U1	0.823248377	2.73E-31
THYM	IUPHAR	DHFR	PAFAH2	0.826337002	1.05E-31
THYM	IUPHAR	DHFR	SLC23A1	0.828490966	5.30E-32
THYM	IUPHAR	DHFR	CDK2	0.828675348	5.00E-32
THYM	IUPHAR	DHFR	VRK1	0.832347019	1.53E-32
THYM	IUPHAR	DHFR	RRM1	0.836226646	4.24E-33
THYM	IUPHAR	DHFR	MAP2K6	0.840377667	1.04E-33
THYM	IUPHAR	DHFR	PLK1	0.846018027	1.43E-34
THYM	IUPHAR	DHFR	RRM2	0.84966894	3.80E-35
THYM	IUPHAR	DHFR	PDE7A	0.857111886	2.28E-36
THYM	IUPHAR	DHFR	PBK	0.858701645	1.22E-36
THYM	IUPHAR	DHFR	ATAD2	0.874920003	1.34E-39
THYM	IUPHAR	DHFR	TTK	0.880751411	9.18E-41
THYM	IUPHAR	DHFR	CDC7	0.881670696	5.93E-41
THYM	IUPHAR	DHFR	EZH2	0.885193983	1.08E-41
THYM	IUPHAR	DHFR	AURKA	0.890738774	6.56E-43
THYM	IUPHAR	DHFR	CDK1	0.891255093	5.01E-43
THYM	IUPHAR	DHFR	PLK4	0.896525138	2.99E-44
THYM	IUPHAR	DHFR	NEK2	0.906292539	1.05E-46
THYM	IUPHAR	DHFR	KIF11	0.911499314	3.98E-48
THYM	IUPHAR	DHFR	TOP2A	0.913711833	9.32E-49
THYM	IUPHAR	DHFR	MELK	0.91997339	1.23E-50
THYM	IUPHAR	DHFR	BUB1B	0.922777413	1.57E-51
THYM	IUPHAR	DHFR	BUB1	0.931760086	1.23E-54
THYM	Kinase	DHFR	CHEK1	0.802422672	1.12E-28
THYM	Kinase	DHFR	CDK2	0.828675348	5.00E-32
THYM	Kinase	DHFR	VRK1	0.832347019	1.53E-32
THYM	Kinase	DHFR	MAP2K6	0.840377667	1.04E-33
THYM	Kinase	DHFR	PLK1	0.846018027	1.43E-34
THYM	Kinase	DHFR	PBK	0.858701645	1.22E-36
THYM	Kinase	DHFR	TTK	0.880751411	9.18E-41
THYM	Kinase	DHFR	CDC7	0.881670696	5.93E-41
THYM	Kinase	DHFR	AURKA	0.890738774	6.56E-43
THYM	Kinase	DHFR	CDK1	0.891255093	5.01E-43
THYM	Kinase	DHFR	GSG2	0.892493489	2.62E-43
THYM	Kinase	DHFR	PLK4	0.896525138	2.99E-44
THYM	Kinase	DHFR	NEK2	0.906292539	1.05E-46
THYM	Kinase	DHFR	MELK	0.91997339	1.23E-50
THYM	Kinase	DHFR	BUB1B	0.922777413	1.57E-51
THYM	Kinase	DHFR	BUB1	0.931760086	1.23E-54
THYM	TF	DHFR	GFI1	0.807042031	3.15E-29
THYM	TF	DHFR	MYB	0.808141726	2.32E-29
THYM	TF	DHFR	E2F2	0.808500561	2.09E-29
THYM	TF	DHFR	CBX2	0.813486635	5.04E-30
THYM	TF	DHFR	BCL11B	0.81975955	7.91E-31
THYM	TF	DHFR	TCF3	0.834054324	8.74E-33
THYM	TF	DHFR	CENPA	0.834599715	7.30E-33
THYM	TF	DHFR	ZNF367	0.906993992	6.83E-47
THYM	TF	DHFR	FOXM1	0.909911102	1.10E-47
THYM	TF	DHFR	E2F8	0.928575025	1.73E-53
THYM	TSG	DHFR	CHEK1	0.802422672	1.12E-28
THYM	TSG	DHFR	EPB41	0.806231858	3.95E-29
THYM	TSG	DHFR	E2F2	0.808500561	2.09E-29
THYM	TSG	DHFR	PTPN2	0.811584139	8.73E-30
THYM	TSG	DHFR	PPP2CA	0.814037083	4.30E-30
THYM	TSG	DHFR	BRCA1	0.82201733	3.99E-31
THYM	TSG	DHFR	CDKN2C	0.827525963	7.20E-32
THYM	TSG	DHFR	CDK2	0.828675348	5.00E-32
THYM	TSG	DHFR	TCF3	0.834054324	8.74E-33
THYM	TSG	DHFR	ECT2	0.842184027	5.54E-34
THYM	TSG	DHFR	PLK1	0.846018027	1.43E-34
THYM	TSG	DHFR	DNMT3B	0.850530894	2.76E-35
THYM	TSG	DHFR	EZH2	0.885193983	1.08E-41
THYM	TSG	DHFR	BLM	0.894956662	7.03E-44
UCS	Cell metabolism gene	DHFR	DGKA	0.805131652	5.35E-29
UCS	Cell metabolism gene	DHFR	CD38	0.805769909	4.49E-29
UCS	Cell metabolism gene	DHFR	ACAT2	0.806397708	3.77E-29
UCS	Cell metabolism gene	DHFR	EDEM1	0.807268361	2.96E-29
UCS	Cell metabolism gene	DHFR	IDH2	0.810655755	1.14E-29
UCS	Cell metabolism gene	DHFR	PPP2CA	0.814037083	4.30E-30
UCS	Cell metabolism gene	DHFR	MTHFD1	0.821678665	4.42E-31
UCS	Cell metabolism gene	DHFR	PAFAH2	0.826337002	1.05E-31
UCS	Cell metabolism gene	DHFR	SLC23A1	0.828490966	5.30E-32
UCS	Cell metabolism gene	DHFR	RRM1	0.836226646	4.24E-33
UCS	Cell metabolism gene	DHFR	DCK	0.838855292	1.75E-33
UCS	Cell metabolism gene	DHFR	PRIM2	0.849402235	4.19E-35
UCS	Cell metabolism gene	DHFR	RRM2	0.84966894	3.80E-35
UCS	Cell metabolism gene	DHFR	DNMT3B	0.850530894	2.76E-35
UCS	Cell metabolism gene	DHFR	POLE2	0.853784877	8.16E-36
UCS	Cell metabolism gene	DHFR	PDE7A	0.857111886	2.28E-36
UCS	Cell metabolism gene	DHFR	HMMR	0.940743296	3.39E-58
UCS	CGC	DHFR	SFPQ	0.801939707	1.28E-28
UCS	CGC	DHFR	MYB	0.808141726	2.32E-29
UCS	CGC	DHFR	BRIP1	0.810032482	1.36E-29
UCS	CGC	DHFR	IDH2	0.810655755	1.14E-29
UCS	CGC	DHFR	BCL11B	0.81975955	7.91E-31
UCS	CGC	DHFR	MLLT11	0.821460512	4.72E-31
UCS	CGC	DHFR	BRCA1	0.82201733	3.99E-31
UCS	CGC	DHFR	CDKN2C	0.827525963	7.20E-32
UCS	CGC	DHFR	HNRNPA2B1	0.83398551	8.94E-33
UCS	CGC	DHFR	TCF3	0.834054324	8.74E-33
UCS	CGC	DHFR	FNBP1	0.837419274	2.84E-33
UCS	CGC	DHFR	FANCD2	0.84173698	6.47E-34
UCS	CGC	DHFR	RFWD3	0.852685929	1.24E-35
UCS	CGC	DHFR	RAP1GDS1	0.878290795	2.90E-40
UCS	CGC	DHFR	EZH2	0.885193983	1.08E-41
UCS	CGC	DHFR	BLM	0.894956662	7.03E-44
UCS	CGC	DHFR	POLQ	0.911586927	3.76E-48
UCS	CGC	DHFR	STIL	0.916632887	1.29E-49
UCS	CGC	DHFR	BUB1B	0.922777413	1.57E-51
UCS	Epifactor	DHFR	SFPQ	0.801939707	1.28E-28
UCS	Epifactor	DHFR	CHEK1	0.802422672	1.12E-28
UCS	Epifactor	DHFR	RAD51	0.802878834	9.93E-29
UCS	Epifactor	DHFR	GFI1	0.807042031	3.15E-29
UCS	Epifactor	DHFR	CBX2	0.813486635	5.04E-30
UCS	Epifactor	DHFR	PPP2CA	0.814037083	4.30E-30
UCS	Epifactor	DHFR	BRCA1	0.82201733	3.99E-31
UCS	Epifactor	DHFR	H2AFZ	0.824267557	2.00E-31
UCS	Epifactor	DHFR	ANP32E	0.828664416	5.02E-32
UCS	Epifactor	DHFR	CDK2	0.828675348	5.00E-32
UCS	Epifactor	DHFR	VRK1	0.832347019	1.53E-32
UCS	Epifactor	DHFR	CENPA	0.834599715	7.30E-33
UCS	Epifactor	DHFR	ASF1B	0.840405087	1.03E-33
UCS	Epifactor	DHFR	UBR7	0.84251218	4.94E-34
UCS	Epifactor	DHFR	CBX3	0.843248979	3.82E-34
UCS	Epifactor	DHFR	CDC6	0.845382105	1.79E-34
UCS	Epifactor	DHFR	CHAF1A	0.849127881	4.63E-35
UCS	Epifactor	DHFR	UBE2T	0.849751509	3.68E-35
UCS	Epifactor	DHFR	TAF5	0.849889615	3.50E-35
UCS	Epifactor	DHFR	DNMT3B	0.850530894	2.76E-35
UCS	Epifactor	DHFR	H2AFY	0.853237948	1.00E-35
UCS	Epifactor	DHFR	PCNA	0.857192088	2.21E-36
UCS	Epifactor	DHFR	PBK	0.858701645	1.22E-36
UCS	Epifactor	DHFR	UHRF1	0.867865374	2.91E-38
UCS	Epifactor	DHFR	ATAD2	0.874920003	1.34E-39
UCS	Epifactor	DHFR	HJURP	0.880257353	1.16E-40
UCS	Epifactor	DHFR	TTK	0.880751411	9.18E-41
UCS	Epifactor	DHFR	HELLS	0.882411812	4.16E-41
UCS	Epifactor	DHFR	EZH2	0.885193983	1.08E-41
UCS	Epifactor	DHFR	AURKA	0.890738774	6.56E-43
UCS	Epifactor	DHFR	CDK1	0.891255093	5.01E-43
UCS	Epifactor	DHFR	GSG2	0.892493489	2.62E-43
UCS	Epifactor	DHFR	TOP2A	0.913711833	9.32E-49
UCS	Epifactor	DHFR	BUB1	0.931760086	1.23E-54
UCS	Epifactor	DHFR	WHSC1	0.933415397	2.97E-55
UCS	IUPHAR	DHFR	RASGRP1	0.801174417	1.58E-28
UCS	IUPHAR	DHFR	CHEK1	0.802422672	1.12E-28
UCS	IUPHAR	DHFR	CD38	0.805769909	4.49E-29
UCS	IUPHAR	DHFR	EPB41	0.806231858	3.95E-29
UCS	IUPHAR	DHFR	ACAT2	0.806397708	3.77E-29
UCS	IUPHAR	DHFR	CHRNB4	0.809158237	1.74E-29
UCS	IUPHAR	DHFR	IDH2	0.810655755	1.14E-29
UCS	IUPHAR	DHFR	CYP2U1	0.823248377	2.73E-31
UCS	IUPHAR	DHFR	PAFAH2	0.826337002	1.05E-31
UCS	IUPHAR	DHFR	SLC23A1	0.828490966	5.30E-32
UCS	IUPHAR	DHFR	CDK2	0.828675348	5.00E-32
UCS	IUPHAR	DHFR	VRK1	0.832347019	1.53E-32
UCS	IUPHAR	DHFR	RRM1	0.836226646	4.24E-33
UCS	IUPHAR	DHFR	MAP2K6	0.840377667	1.04E-33
UCS	IUPHAR	DHFR	PLK1	0.846018027	1.43E-34
UCS	IUPHAR	DHFR	RRM2	0.84966894	3.80E-35
UCS	IUPHAR	DHFR	PDE7A	0.857111886	2.28E-36
UCS	IUPHAR	DHFR	PBK	0.858701645	1.22E-36
UCS	IUPHAR	DHFR	ATAD2	0.874920003	1.34E-39
UCS	IUPHAR	DHFR	TTK	0.880751411	9.18E-41
UCS	IUPHAR	DHFR	CDC7	0.881670696	5.93E-41
UCS	IUPHAR	DHFR	EZH2	0.885193983	1.08E-41
UCS	IUPHAR	DHFR	AURKA	0.890738774	6.56E-43
UCS	IUPHAR	DHFR	CDK1	0.891255093	5.01E-43
UCS	IUPHAR	DHFR	PLK4	0.896525138	2.99E-44
UCS	IUPHAR	DHFR	NEK2	0.906292539	1.05E-46
UCS	IUPHAR	DHFR	KIF11	0.911499314	3.98E-48
UCS	IUPHAR	DHFR	TOP2A	0.913711833	9.32E-49
UCS	IUPHAR	DHFR	MELK	0.91997339	1.23E-50
UCS	IUPHAR	DHFR	BUB1B	0.922777413	1.57E-51
UCS	IUPHAR	DHFR	BUB1	0.931760086	1.23E-54
UCS	Kinase	DHFR	CHEK1	0.802422672	1.12E-28
UCS	Kinase	DHFR	CDK2	0.828675348	5.00E-32
UCS	Kinase	DHFR	VRK1	0.832347019	1.53E-32
UCS	Kinase	DHFR	MAP2K6	0.840377667	1.04E-33
UCS	Kinase	DHFR	PLK1	0.846018027	1.43E-34
UCS	Kinase	DHFR	PBK	0.858701645	1.22E-36
UCS	Kinase	DHFR	TTK	0.880751411	9.18E-41
UCS	Kinase	DHFR	CDC7	0.881670696	5.93E-41
UCS	Kinase	DHFR	AURKA	0.890738774	6.56E-43
UCS	Kinase	DHFR	CDK1	0.891255093	5.01E-43
UCS	Kinase	DHFR	GSG2	0.892493489	2.62E-43
UCS	Kinase	DHFR	PLK4	0.896525138	2.99E-44
UCS	Kinase	DHFR	NEK2	0.906292539	1.05E-46
UCS	Kinase	DHFR	MELK	0.91997339	1.23E-50
UCS	Kinase	DHFR	BUB1B	0.922777413	1.57E-51
UCS	Kinase	DHFR	BUB1	0.931760086	1.23E-54
UCS	TF	DHFR	GFI1	0.807042031	3.15E-29
UCS	TF	DHFR	MYB	0.808141726	2.32E-29
UCS	TF	DHFR	E2F2	0.808500561	2.09E-29
UCS	TF	DHFR	CBX2	0.813486635	5.04E-30
UCS	TF	DHFR	BCL11B	0.81975955	7.91E-31
UCS	TF	DHFR	TCF3	0.834054324	8.74E-33
UCS	TF	DHFR	CENPA	0.834599715	7.30E-33
UCS	TF	DHFR	ZNF367	0.906993992	6.83E-47
UCS	TF	DHFR	FOXM1	0.909911102	1.10E-47
UCS	TF	DHFR	E2F8	0.928575025	1.73E-53
UCS	TSG	DHFR	CHEK1	0.802422672	1.12E-28
UCS	TSG	DHFR	EPB41	0.806231858	3.95E-29
UCS	TSG	DHFR	E2F2	0.808500561	2.09E-29
UCS	TSG	DHFR	PTPN2	0.811584139	8.73E-30
UCS	TSG	DHFR	PPP2CA	0.814037083	4.30E-30
UCS	TSG	DHFR	BRCA1	0.82201733	3.99E-31
UCS	TSG	DHFR	CDKN2C	0.827525963	7.20E-32
UCS	TSG	DHFR	CDK2	0.828675348	5.00E-32
UCS	TSG	DHFR	TCF3	0.834054324	8.74E-33
UCS	TSG	DHFR	ECT2	0.842184027	5.54E-34
UCS	TSG	DHFR	PLK1	0.846018027	1.43E-34
UCS	TSG	DHFR	DNMT3B	0.850530894	2.76E-35
UCS	TSG	DHFR	EZH2	0.885193983	1.08E-41
UCS	TSG	DHFR	BLM	0.894956662	7.03E-44
UVM	TSG	DHFR	RBBP8	0.803022258	3.26E-19

Top

Protein structure

Protein 3D structure
Visit iCn3D.

Top

Protein-Protein Interaction

Protein-protein interaction networks
* Overlap between up-regulated DEGs (log2FC<-1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

Overlap between down-regulated DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network (center: Translation factor, node: DEGs, edges: weighted by -log2(adj.P))

* Edge colors based on TCGA cancer types.

* Overlap between DEGs (log2FC>1 and adj.P<0.05) and STRING PPI network per cancer (center: Translation factor, node: DEGs, node color: log2FC, edges: weighted by -log2(adj.P))

Cancer type	Translation factor	Interacting protein coding gene	FC	adj.pval
KICH	DHFR	ATIC	1.09331845723325	0.000120222568511963
KICH	DHFR	SHMT2	-1.81014059189576	0.000187873840332031
HNSC	DHFR	HSPD1	-1.59453887978196	0.000299885096865183
KIRC	DHFR	MTHFD1	-1.93638174369857	0.00050811011383314
KICH	DHFR	GART	1.11145587028427	0.000808119773864746
ESCA	DHFR	ATIC	-3.8726581413577	0.0009765625
PRAD	DHFR	MTR	-1.94237856790995	0.00102692827260821
STAD	DHFR	SHMT2	-4.23192874050502	0.00114433001726866
LUSC	DHFR	MTR	-7.73168871169615	0.00210845814063025
LIHC	DHFR	MTR	-1.24864221980252	0.00313782336931997
HNSC	DHFR	MTR	-1.06746708151172	0.00373573799811311
CHOL	DHFR	SHMT1	-2.63808023305847	0.00390625
CHOL	DHFR	SHMT2	-3.80594293409998	0.00390625
CHOL	DHFR	HSPD1	-1.75958114436608	0.0078125
ESCA	DHFR	MTHFD1	-3.26939074305335	0.009765625
BLCA	DHFR	SHMT1	-2.10321020502746	0.012359619140625
BRCA	DHFR	MTHFD1	-7.96417208719303	0.0176938185073105
CHOL	DHFR	FPGS	-3.66203104730425	0.02734375
THCA	DHFR	ATIC	-3.26391781299857	1.38467683131598e-09
PRAD	DHFR	SHMT1	1.07461438916689	1.48880035272649e-05
LUAD	DHFR	MTHFD1	-2.15031372279412	2.1660933617938e-09
HNSC	DHFR	ATIC	-3.95366159660393	2.41986685978191e-06
BRCA	DHFR	SHMT2	-1.34163093355935	2.71402271977538e-18
STAD	DHFR	HSPD1	-1.76107966337221	3.25962901115418e-08
LUAD	DHFR	TYMS	-4.53846013082046	3.59910232594763e-11
LUAD	DHFR	HSPD1	-4.07650103036032	3.996080695583e-11
KIRP	DHFR	TYMS	-4.74916718066695	5.12227416038514e-08
LUAD	DHFR	SHMT2	-2.86545229066375	5.18546916374703e-11
THCA	DHFR	TYMS	-1.40396152011229	6.91106419786075e-09
HNSC	DHFR	GART	2.02331952914874	7.62444699375921e-05
STAD	DHFR	MTHFD1	-4.08327414989158	8.09784978628159e-07
BRCA	DHFR	TYMS	-3.84487671935658	8.59195631465592e-27
LIHC	DHFR	TYMS	-2.69821117051716	9.87002535347663e-07

Protein-protein interactors with this translation factor (BIOGRID-3.4.160)

PPI interactors with DHFR

FKBP1A, HSPD1, MDM2, TP53, UBC, AMFR, GKAP1, PTTG1, FOXB1, FOXL1, BRD4, EGFR, CDC73, CHEK1, WEE1, TRIM25, RNF4, DPF2, CDC37, AIFM1, TRAF2, RBCK1, SHARPIN, TNIP2, NRAS, KRAS, NR2C2, OPTN, HSCB, DIABLO, SLC25A12, HNRNPH1, CDC42, nsp6, AR, ATG10, ATG3, KCNE3, DHFRL1, HNRNPCL2, LGI1, CCT8L2, RAD50, PEX1, HELZ, CCZ1, ARHGEF5, VCPIP1, KLK15, SAP18, TRIM65, PSG11, PPIP5K1, ARAP3, SBF2, BTLA, NAB2, RFXANK, NPAS1, MAN2C1, CELSR2, SIRT6, GSTM3, VPS18, KNTC1, SHKBP1, TBC1D2B, ZNHIT2, HPS3, RNF123, BANP, PI15, SFN, TNS4, EDN3, DNAI2, KCTD14, RGL3, METTL21B, HAUS4, RIPK1, MAP3K6, PLEKHG4, GGH, SPG11, MTR, RPS6KA4, TBC1D9B, PLA2G6, PIGH, IFT140, CHTF18, TUBB8, IL5RA, NLRP2, FANCA, UBXN6, MYO3B, GPAT2, HAUS5, N4BP2L2, TUBA1A, ABCF3, RAD17, THBS1, OXSR1, RGPD5, KIAA1671, DNMBP, TBC1D32, CCNF,

Top

Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
DHFR	chr5	79924912	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001624\|3_prime_UTR_variant
DHFR	chr5	79929723	T	A	single_nucleotide_variant	Pathogenic	Megaloblastic_anemia_due_to_dihydrofolate_reductase_deficiency	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
DHFR	chr5	79929740	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
DHFR	chr5	79929763	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
DHFR	chr5	79945212	G	A	single_nucleotide_variant	Pathogenic	Megaloblastic_anemia_due_to_dihydrofolate_reductase_deficiency	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
DHFR	chr5	79949829	TC	T	Deletion	Uncertain_significance	not_provided	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant
DHFR	chr5	79949873	A	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
DHFR	chr5	79950163	C	CTGGCGCGTCCCGCCCAGGT	Insertion	Benign	Gastrointestinal_stromal_tumor\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DHFR	chr5	79950213	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DHFR	chr5	79950215	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
DHFR	chr5	79950389	GC	G	Deletion	Benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950403	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950497	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950508	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950512	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950547	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950547	A	T	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950548	T	C	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950551	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950553	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950554	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950556	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950557	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950558	GA	G	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950560	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950560	A	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950561	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950562	C	T	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950565	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950566	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950566	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950567	G	A	single_nucleotide_variant	Benign/Likely_benign	Megaloblastic_anemia_due_to_dihydrofolate_reductase_deficiency\|Hereditary_cancer-predisposing_syndrome\|not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950568	T	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950568	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950570	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950570	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950572	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950572	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950572	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950575	G	C	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950577	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950579	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950580	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950580	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950581	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950582	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950583	G	GCCT	Duplication	Uncertain_significance	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950589	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950591	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950594	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950595	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950596	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950596	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950599	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950602	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950603	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950603	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950605	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950606	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950609	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950611	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950612	G	A	single_nucleotide_variant	Likely_benign	Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950613	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950613	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950615	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950618	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950620	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950621	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950622	C	T	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950623	G	A	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950625	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950625	T	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950627	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950632	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950634	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950634	T	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950635	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950637	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950638	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950639	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950642	A	C	single_nucleotide_variant	Likely_benign	Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950643	A	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950643	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950644	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950648	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950652	T	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950653	C	G	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950654	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950655	ACCT	A	Microsatellite	Uncertain_significance	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001822\|inframe_deletion,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001822\|inframe_deletion,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950656	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950657	C	T	single_nucleotide_variant	Benign/Likely_benign	Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950659	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950660	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950660	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950661	T	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950661	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950667	A	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950667	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950668	C	A	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950668	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950668	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950672	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950673	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950674	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950675	A	G	single_nucleotide_variant	Benign/Likely_benign	Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950675	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950676	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950677	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950678	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950678	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950679	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950680	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950681	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950682	C	T	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950683	A	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950683	A	G	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950685	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950687	G	A	single_nucleotide_variant	Likely_benign	Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950688	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950689	A	C	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950689	AC	A	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950690	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950690	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950691	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950692	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950693	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950694	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950696	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950696	C	CGCTGCAGCG	Microsatellite	Conflicting_interpretations_of_pathogenicity	Endometrial_carcinoma\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950696	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950696	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950696	CGCTGCAGCG	C	Microsatellite	Benign/Likely_benign	Megaloblastic_anemia_due_to_dihydrofolate_reductase_deficiency\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001822\|inframe_deletion,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001822\|inframe_deletion,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950699	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950699	TGCAGCGGCTGCAGCGGCC	T	Deletion	Benign/Likely_benign	Megaloblastic_anemia_due_to_dihydrofolate_reductase_deficiency\|Familial_adenomatous_polyposis_4\|not_provided
DHFR	chr5	79950701	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950705	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950705	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950706	GCTGCAGCGGCCGCAGCGGCCGCAGCGC	G	Deletion	Uncertain_significance	Endometrial_carcinoma	SO:0001619\|non-coding_transcript_variant,SO:0001822\|inframe_deletion,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001822\|inframe_deletion,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950707	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950707	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950708	T	C	single_nucleotide_variant	Benign/Likely_benign	Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950708	T	TACAGCGGCC	Insertion	Uncertain_significance	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950708	T	TGCAGCGGCC	Microsatellite	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950708	TGCAGCGGCC	T	Microsatellite	Benign	Megaloblastic_anemia_due_to_dihydrofolate_reductase_deficiency\|not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001822\|inframe_deletion,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001822\|inframe_deletion,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950710	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950711	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950713	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950714	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950715	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950715	G	GCCGCAGCGGCCGCAGCGC	Duplication	Uncertain_significance	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950717	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950717	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950718	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950718	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950719	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950721	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950723	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950723	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950724	G	C	single_nucleotide_variant	Benign/Likely_benign	Cavernous_sinus_meningioma\|Hereditary_cancer-predisposing_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950724	G	GCCGCAGCGC	Duplication	Benign	Endometrial_carcinoma\|not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950724	G	GCCGCAGCGCCCGCAGCGGCCGCAGCGC	Insertion	Uncertain_significance	not_specified	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950724	G	GCCGCAGCGGCCGCAGCGC	Insertion	Benign/Likely_benign	not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950725	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950726	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950727	G	C	single_nucleotide_variant	Benign/Likely_benign	not_specified\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950727	G	GCAGCGCCCC	Microsatellite	Conflicting_interpretations_of_pathogenicity	Endometrial_carcinoma\|not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950727	G	GCAGCGCCCCCAGCGCCCC	Microsatellite	Benign/Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950727	G	GCAGCGCCCCCAGCGCCCCCAGCGCCCC	Microsatellite	Benign/Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950727	G	GCAGCGCCCCCAGCGCCCCCAGCGCCCCCAGCGCCCC	Microsatellite	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950727	GCAGCGCCCC	G	Microsatellite	Benign	not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001822\|inframe_deletion,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001822\|inframe_deletion,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950731	C	CGCCCGCACT	Insertion	Uncertain_significance	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950731	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950731	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950732	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950733	C	G	single_nucleotide_variant	Uncertain_significance	Endometrial_carcinoma\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950734	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950734	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950735	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950736	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950737	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950737	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950738	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950739	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950739	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950741	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950741	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950741	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950741	GCCCCCAGCT	G	Deletion	Benign	Megaloblastic_anemia_due_to_dihydrofolate_reductase_deficiency\|not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001822\|inframe_deletion,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001822\|inframe_deletion,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950742	C	CCCCCAGCTCCCGCCTTCCCG	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950744	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950744	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950746	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950748	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950749	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950751	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950751	C	CCCGCCTTCCCGCCCCAGCTG	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950751	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950753	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950753	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950754	G	A	single_nucleotide_variant	Likely_benign	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950755	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950756	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950756	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950758	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950758	T	TCCCGCCCC	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950759	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950760	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950761	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950761	C	T	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950762	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950762	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950763	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950764	C	G	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950765	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950768	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950768	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950769	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950769	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950770	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950770	T	TGCC	Microsatellite	Uncertain_significance	Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001821\|inframe_insertion,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950771	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950771	G	T	single_nucleotide_variant	Likely_benign	Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950772	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950772	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950773	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950773	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950775	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950776	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950777	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950778	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950780	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950780	CA	AG	Indel	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950780	CA	TG	Inversion	Likely_benign	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950781	A	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950781	A	G	single_nucleotide_variant	Benign	Megaloblastic_anemia_due_to_dihydrofolate_reductase_deficiency\|Hereditary_cancer-predisposing_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950781	A	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950783	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950784	G	C	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001575\|splice_donor_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950785	T	C	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001575\|splice_donor_variant,SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
DHFR	chr5	79950786	A	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
DHFR	chr5	79950786	A	G	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
DHFR	chr5	79950786	A	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
DHFR	chr5	79950787	G	A	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
DHFR	chr5	79950788	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
DHFR	chr5	79950788	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
DHFR	chr5	79950789	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
DHFR	chr5	79950789	T	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
DHFR	chr5	79950790	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
DHFR	chr5	79950790	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
DHFR	chr5	79950791	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
DHFR	chr5	79950793	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
DHFR	chr5	79950793	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant

nsSNVs with sample frequency (size of circle) from TCGA 33 cancers.

SNVs and Indels

Gene	Cancer type	Chromosome	Start	End	RefSeeq	MutSeq	Mutation type	AAchange	# samples
DHFR	LUAD	chr5	79950244	79950244	T	-	Frame_Shift_Del	p.D22fs	5
DHFR	PAAD	chr5	79945254	79945254	G	A	Nonsense_Mutation	p.R66*	4
DHFR	PAAD	chr5	79924945	79924945	G	A	Silent	p.G175G	3
DHFR	HNSC	chr5	79929781	79929781	G	T	Missense_Mutation	p.L134I	3
DHFR	UCEC	chr5	79924972	79924972	A	C	Missense_Mutation	p.S128A	2
DHFR	UCEC	chr5	79933712	79933712	G	T	Missense_Mutation	p.S120Y	2
DHFR	PRAD	chr5	79933789	79933789	T	C	Silent	p.L94L	2
DHFR	UCEC	chr5	79945224	79945224	G	T	Missense_Mutation	p.L76I	2
DHFR	PRAD	chr5	79945228	79945232	TAAAT	-	Frame_Shift_Del	p.NL73fs	2
DHFR	SKCM	chr5	79929780	79929780	A	G	Missense_Mutation	p.L134P	2
DHFR	UCEC	chr5	79924930	79924930	A	G	Silent	p.F180	2
DHFR	HNSC	chr5	79945217	79945217	C	T	Missense_Mutation	p.R78K	2
DHFR	UCEC	chr5	79924971	79924971	G	T	Missense_Mutation	p.L167I	2
DHFR	KICH	chr5	79945302	79945302	G	A	Silent	p.L50L	1
DHFR	PAAD	chr5	79945254	79945254	G	A	Nonsense_Mutation		1
DHFR	LGG	chr5	79945214	79945214	T	C	Missense_Mutation	p.E79G	1
DHFR	LIHC	chr5	79924927	79924927	T	C	Silent		1
DHFR	PRAD	chr5	79945228	79945232	TAAAT	-	Frame_Shift_Del	p.73_75del	1
DHFR	LIHC	chr5	79924940	79924940	T	-	Frame_Shift_Del	p.K177fs	1
DHFR	PRAD	chr5	79924946	79924946	C	T	Missense_Mutation	p.G175D	1
DHFR	LIHC	chr5	79950256	79950256	C	-	Frame_Shift_Del	p.G18fs	1
DHFR	BLCA	chr5	79945222	79945222	G	A	Silent	p.L76L	1
DHFR	LUAD	chr5	79929790	79929790	G	A	Missense_Mutation	p.H131Y	1
DHFR	SARC	chr5	79945210	79945210	G	T	Silent		1
DHFR	COAD	chr5	79945215	79945215	C	A	Nonsense_Mutation	p.E79X	1
DHFR	GBM	chr5	79924969	79924969	G	T	Silent		1
DHFR	PAAD	chr5	79924945	79924945	G	A	Silent		1
DHFR	TGCT	chr5	79950296	79950296	G	T	Missense_Mutation	p.L5I	1
DHFR	HNSC	chr5	79929781	79929781	G	T	Missense_Mutation		1
DHFR	PAAD	chr5	79945254	79945254	G	A	Nonsense_Mutation	p.R66X	1

Copy number variation (CNV) of DHFR
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across DHFR
* Click on the image to open the UCSC genome browser with custom track showing this image in a new window.

Fusion genes with this translation factor from FusionGDB2.0.

FusionGDB2 ID	Disease	Sample	Hgene	Hchr	Hbp	Hstrand	Tgene	Tchr	Tbp	Tstrand
99700	N/A	U95676	ARHGAP15	chr2	143849504	-	DHFR	chr5	79948187	-
99700	N/A	EC493836	CDKL5	chrX	18617570	-	DHFR	chr5	79946459	-
80687	N/A	AW579148	DHFR	chr5	79838842	-	FBXO16	chr8	28252838	+
97209	N/A	BP432766	DHFR	chr5	79946482	-	LARP1B	chr4	129002937	-
87923	N/A	EC566395	DHFR	chr5	79946730	-	MDGA2	chr14	47724865	-
92801	N/A	EC464381	DHFR	chr5	79945841	-	MTRNR2L1	chr17	22023386	+
55895	N/A	AW602566	DHFR	chr5	79946594	-	PPM1L	chr3	160665442	+
97530	N/A	DN916221	DHFR	chr5	79945311	+	PSMA8	chr18	23751008	+
86911	N/A	AW601837	DHFR	chr5	79946684	+	ST14	chr11	130062967	-
99850	N/A	EC561789	DHFR	chr5	79947559	-	ZMYM4	chr1	35826572	-
99700	ESCA	TCGA-LN-A7HY	EDIL3	chr5	83680125	-	DHFR	chr5	79933828	-
99700	N/A	EC574569	GNA14	chr9	80230751	-	DHFR	chr5	79946829	-
99700	N/A	L42531	GSS	chr20	33516405	-	DHFR	chr5	79946815	-
99700	N/A	AF338234	MIA2	chr14	39857717	+	DHFR	chr5	79939285	+
99700	N/A	EC568912	MTRNR2L1	chr17	22022510	+	DHFR	chr5	79946803	-
99700	N/A	BE838734	NCAPD3	chr11	134025907	+	DHFR	chr5	79947263	+
99713	N/A	AI444618	XPO7	chr8	21863041	+	DHFR	chr5	79948147	+

Top

Prognostic Analysis

Kaplan-Meier plots with logrank tests of overall survival (OS)

Cancer type

Translation factor

Coefficent

Hazard ratio

Wald test pval

Likelihool ratio pval

Logrank test pval

# samples

Top

Translation factor and Gender

Differential gene expression between female and male. (Wilcoxon test, pval<0.05)

Cancer type	Translation factor	pval	adj.p
SARC	DHFR	0.00149691479543818	0.042
KIRP	DHFR	0.0105306194194935	0.28
BRCA	DHFR	0.0234993594104256	0.61
LUAD	DHFR	0.0317524748920173	0.79
ESCA	DHFR	0.0458950676055369	1
PAAD	DHFR	0.049330658948548	1

Top

Translation factor and Age

Differential gene expression between young and old age groups (Wilcoxon test, pval<0.05)

Cancer type	Translation factor	pval	adj.p
ESCA	DHFR	0.00066009121286064	0.022
THYM	DHFR	0.00129669457322833	0.041
COAD	DHFR	0.03009968385027	0.9
MESO	DHFR	0.0081059399364563	0.25

Top

Related Drugs

Drugs targeting genes involved in this translation factor.
(DrugBank Version 5.1.8 2021-05-08)

UniProtAcc	DrugBank ID	Drug name	Drug activity	Drug type	Drug status
P00374	DB00205	Pyrimethamine	Inhibitor	Small molecule	Approved\|Investigational\|Vet_approved
P00374	DB00642	Pemetrexed	Inhibitor	Small molecule	Approved\|Investigational
P00374	DB00798	Gentamicin		Small molecule	Approved\|Vet_approved
P00374	DB01131	Proguanil	Inhibitor	Small molecule	Approved
P00374	DB01157	Trimetrexate	Inhibitor	Small molecule	Approved\|Investigational
P00374	DB02104	2,4-Diamino-5-Methyl-6-[(3,4,5-Trimethoxy-N-Methylanilino)Methyl]Pyrido[2,3-D]Pyrimidine		Small molecule	Experimental
P00374	DB02427	2,4-Diamino-6-[N-(2',5'-Dimethoxybenzyl)-N-Methylamino]Quinazoline		Small molecule	Experimental
P00374	DB02559	6-(Octahydro-1h-Indol-1-Ylmethyl)Decahydroquinazoline-2,4-Diamine		Small molecule	Experimental
P00374	DB02583	N6-(2,5-Dimethoxy-Benzyl)-N6-Methyl-Pyrido[2,3-D]Pyrimidine-2,4,6-Triamine		Small molecule	Experimental
P00374	DB02919	2,4-Diamino-6-[N-(3',4',5'-Trimethoxybenzyl)-N-Methylamino]Pyrido[2,3-D]Pyrimidine		Small molecule	Experimental
P00374	DB03060	Sri-9662		Small molecule	Experimental
P00374	DB03125	2,4-Diamino-5-(3,4,5-Trimethoxy-Benzyl)-Pyrimidin-1-Ium		Small molecule	Experimental
P00374	DB03351	Sri-9439		Small molecule	Experimental
P00374	DB03461	Nicotinamide adenine dinucleotide phosphate		Small molecule	Experimental
P00374	DB03695	Piritrexim		Small molecule	Investigational
P00374	DB03886	Biopterin		Small molecule	Experimental
P00374	DB03987	2,4-Diamino-6-[N-(3',5'-Dimethoxybenzyl)-N-Methylamino]Pyrido[2,3-D]Pyrimidine		Small molecule	Experimental
P00374	DB06358	Iclaprim		Small molecule	Investigational
P00374	DB07140	5-[(3R)-3-(5-methoxybiphenyl-3-yl)but-1-yn-1-yl]-6-methylpyrimidine-2,4-diamine		Small molecule	Experimental
P00374	DB07141	5-[(3R)-3-(5-methoxy-4'-methylbiphenyl-3-yl)but-1-yn-1-yl]-6-methylpyrimidine-2,4-diamine		Small molecule	Experimental
P00374	DB07142	5-[(3R)-3-(5-methoxy-3',5'-dimethylbiphenyl-3-yl)but-1-yn-1-yl]-6-methylpyrimidine-2,4-diamine		Small molecule	Experimental
P00374	DB07144	5-[(3R)-3-(5-methoxy-2',6'-dimethylbiphenyl-3-yl)but-1-yn-1-yl]-6-methylpyrimidine-2,4-diamine		Small molecule	Experimental
P00374	DB08234	5-[3-(2,5-dimethoxyphenyl)prop-1-yn-1-yl]-6-ethylpyrimidine-2,4-diamine		Small molecule	Experimental
P00374	DB08406	[N-(2,4-DIAMINOPTERIDIN-6-YL)-METHYL]-DIBENZ[B,F]AZEPINE		Small molecule	Experimental
P00374	DB08448	(4aS)-5-[(2,4-diaminopteridin-6-yl)methyl]-4a,5-dihydro-2H-dibenzo[b,f]azepin-8-ol		Small molecule	Experimental
P00374	DB08642	(2R,6S)-6-{[methyl(3,4,5-trimethoxyphenyl)amino]methyl}-1,2,5,6,7,8-hexahydroquinazoline-2,4-diamine		Small molecule	Experimental
P00374	DB00205	Pyrimethamine	Inhibitor
P00374	DB00642	Pemetrexed	Inhibitor
P00374	DB00798	Gentamicin
P00374	DB01131	Proguanil	Inhibitor
P00374	DB01157	Trimetrexate	Inhibitor
P00374	DB02104	2,4-Diamino-5-Methyl-6-[(3,4,5-Trimethoxy-N-Methylanilino)Methyl]Pyrido[2,3-D]Pyrimidine
P00374	DB02427	2,4-Diamino-6-[N-(2',5'-Dimethoxybenzyl)-N-Methylamino]Quinazoline
P00374	DB02559	6-(Octahydro-1h-Indol-1-Ylmethyl)Decahydroquinazoline-2,4-Diamine
P00374	DB02583	N6-(2,5-Dimethoxy-Benzyl)-N6-Methyl-Pyrido[2,3-D]Pyrimidine-2,4,6-Triamine
P00374	DB02919	2,4-Diamino-6-[N-(3',4',5'-Trimethoxybenzyl)-N-Methylamino]Pyrido[2,3-D]Pyrimidine
P00374	DB03060	Sri-9662
P00374	DB03125	2,4-Diamino-5-(3,4,5-Trimethoxy-Benzyl)-Pyrimidin-1-Ium
P00374	DB03351	Sri-9439
P00374	DB03461	Nicotinamide adenine dinucleotide phosphate
P00374	DB03695	Piritrexim
P00374	DB03886	Biopterin
P00374	DB03987	2,4-Diamino-6-[N-(3',5'-Dimethoxybenzyl)-N-Methylamino]Pyrido[2,3-D]Pyrimidine
P00374	DB06358	Iclaprim
P00374	DB07140	5-[(3R)-3-(5-methoxybiphenyl-3-yl)but-1-yn-1-yl]-6-methylpyrimidine-2,4-diamine
P00374	DB07141	5-[(3R)-3-(5-methoxy-4'-methylbiphenyl-3-yl)but-1-yn-1-yl]-6-methylpyrimidine-2,4-diamine
P00374	DB07142	5-[(3R)-3-(5-methoxy-3',5'-dimethylbiphenyl-3-yl)but-1-yn-1-yl]-6-methylpyrimidine-2,4-diamine
P00374	DB07144	5-[(3R)-3-(5-methoxy-2',6'-dimethylbiphenyl-3-yl)but-1-yn-1-yl]-6-methylpyrimidine-2,4-diamine
P00374	DB08234	5-[3-(2,5-dimethoxyphenyl)prop-1-yn-1-yl]-6-ethylpyrimidine-2,4-diamine
P00374	DB08406	[N-(2,4-DIAMINOPTERIDIN-6-YL)-METHYL]-DIBENZ[B,F]AZEPINE
P00374	DB08448	(4aS)-5-[(2,4-diaminopteridin-6-yl)methyl]-4a,5-dihydro-2H-dibenzo[b,f]azepin-8-ol
P00374	DB08642	(2R,6S)-6-{[methyl(3,4,5-trimethoxyphenyl)amino]methyl}-1,2,5,6,7,8-hexahydroquinazoline-2,4-diamine

Top

Related Diseases

Diseases associated with this translation factor.
(DisGeNet 4.0)

Disease ID	Disease Name	# PubMeds	Disease source
C3151205	Megaloblastic Anemia due to Dihydrofolate Reductase Deficiency	4	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
C0002888	Anemia, Megaloblastic	2	CTD_human
C0006142	Malignant neoplasm of breast	2	CTD_human
C0268608	Deficiency of dihydrofolate reductase	2	GENOMICS_ENGLAND
C0678222	Breast Carcinoma	2	CTD_human
C1257931	Mammary Neoplasms, Human	2	CTD_human
C4704874	Mammary Carcinoma, Human	2	CTD_human
C0003873	Rheumatoid Arthritis	1	CTD_human
C0004352	Autistic Disorder	1	CTD_human
C0009402	Colorectal Carcinoma	1	CTD_human
C0016412	Folic Acid Deficiency	1	CTD_human
C0019193	Hepatitis, Toxic	1	CTD_human
C0029463	Osteosarcoma	1	CTD_human
C0030312	Pancytopenia	1	CTD_human
C0341869	Subfertility, Female	1	CTD_human
C1262760	Hepatitis, Drug-Induced	1	CTD_human
C3658290	Drug-Induced Acute Liver Injury	1	CTD_human
C4277682	Chemical and Drug Induced Liver Injury	1	CTD_human
C4279912	Chemically-Induced Liver Toxicity	1	CTD_human
C4552766	Miscarriage	1	CTD_human