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	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: EEF1A2 (NCBI Gene ID:1917)

Gene Summary

Gene Summary

Gene Information	Gene Name: EEF1A2
	Gene ID: 1917
	Gene Symbol	EEF1A2
	Gene ID	1917
	Gene Name	eukaryotic translation elongation factor 1 alpha 2
	Synonyms	EEF1AL\|EF-1-alpha-2\|EF1A\|EIEE33\|HS1\|MRD38\|STN\|STNL
	Cytomap	20q13.33
	Type of Gene	protein-coding
	Description	elongation factor 1-alpha 2eukaryotic elongation factor 1 A-2statin-S1
	Modification date	20200329
	UniProtAcc	Q05639

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

GO ID	GO term
GO:0006417	Regulation of translation
GO:0008135	Translation factor activity, RNA binding
GO:0006414	Translational elongation
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	EEF1A2	GO:0090218	positive regulation of lipid kinase activity	17088255

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
EEF1A2	>1119.25

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Translation Studies in PubMed

We searched PubMed using 'EEF1A2[title] AND translation [title] AND human.'

Gene	Title	PMID
EEF1A2	Identification of therapeutics that target eEF1A2 and upregulate utrophin A translation in dystrophic muscles	32332749

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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

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.

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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
COAD	EEF1A2	2.61546574949828	1.59740447998047e-05
LUSC	EEF1A2	-1.40636843520266	3.11178953694256e-06
HNSC	EEF1A2	-2.4621919993923	4.10136601658451e-05
THCA	EEF1A2	-1.04801623121118	8.0748918934853e-08

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Expression Regulation

Translation factor expression regulation through miRNA binding

Cancer type

Gene

miRNA

TargetScan binding score (Context++ score percentile)

Coefficient

Pvalue

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
LIHC	EEF1A2	3	2	0.00650547882022787	0.62524	0.417791491442543	-0.7021785739375	-0.226851740196601

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
OV	EEF1A2	2	1	0.00547826410392364	0.303801785714286	0.170635551948052	0.0570581391777742	0.382827295021777

Translation factor expression regulation through copy number variation of Translation factor

Cancer type	Gene	Coefficient	Pvalue
LGG	EEF1A2	0.021471365	0.041652256

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with EEF1A2 (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
LGG	Cell metabolism gene	EEF1A2	SYT5	0.802331308	2.01E-120
LGG	Cell metabolism gene	EEF1A2	SNAP25	0.806053115	2.28E-122
LGG	Cell metabolism gene	EEF1A2	STX1A	0.813020521	4.00E-126
LGG	Cell metabolism gene	EEF1A2	PRKAR1B	0.843770676	8.20E-145
LGG	IUPHAR	EEF1A2	PRKAR1B	0.843770676	8.20E-145
UCEC	IUPHAR	EEF1A2	KCNQ2	0.837669639	3.61E-54

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Protein structure

Protein 3D structure
Visit iCn3D.

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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
HNSC	EEF1A2	EEF2	-1.90805330069302	0.000299885096865183
THCA	EEF1A2	EEF2	1.35574858496176	0.000711089919756285
LIHC	EEF1A2	RPL8	-4.84588284974558	0.00110314154326131
PRAD	EEF1A2	EEF1G	1.04301780897756	0.00116785923777763
THCA	EEF1A2	RPL4	1.38794063541307	0.00128543522995411
PRAD	EEF1A2	RPL4	1.2589775892273	0.00136912931788367
COAD	EEF1A2	EEF2	1.67025113686866	0.00197160243988037
LUAD	EEF1A2	EEF1D	-3.76886952622889	0.00240535358145647
CHOL	EEF1A2	EEF1D	2.92332631647983	0.00390625
KIRP	EEF1A2	EEF1B2	-1.62568748251449	0.00571200484409928
STAD	EEF1A2	RAN	-1.27021088526323	0.00647870777174831
STAD	EEF1A2	RPL4	1.50541710129002	0.00647870777174831
STAD	EEF1A2	EEF2	-1.87846190344448	0.00733334058895707
KICH	EEF1A2	EEF1B2	1.73127861365818	0.0135546922683716
HNSC	EEF1A2	ABTB1	-2.83723519934094	0.0139046201916244
KIRP	EEF1A2	ABTB1	-4.07442276675007	0.017460348084569
BLCA	EEF1A2	RPL4	-1.27208291287992	0.0180816650390625
ESCA	EEF1A2	EEF1A1	1.94762611248595	0.0185546875
ESCA	EEF1A2	EEF2	-3.4598326417414	0.0185546875
LIHC	EEF1A2	EEF1A1	1.48788676140446	0.0227162265784831
LUAD	EEF1A2	EEF1A1	-3.86176112530422	0.02958519941608
KIRP	EEF1A2	EEF1G	-2.05417074227368	0.0375871751457453
ESCA	EEF1A2	RAN	-1.60475857712189	0.0419921875
ESCA	EEF1A2	TPPP	-2.44742558284628	0.0419921875
KIRC	EEF1A2	EEF1D	-1.0133561365017	1.08745737513433e-07
LUSC	EEF1A2	TPPP	-5.81892227357678	1.45947399043856e-08
BRCA	EEF1A2	EEF1A1	-2.99170190120593	2.4485651456383e-20
PRAD	EEF1A2	EEF2	1.63926479894191	2.70126293247147e-08
HNSC	EEF1A2	RAN	2.26649469099398	2.97245203455532e-05
BRCA	EEF1A2	RAN	-3.8324290184836	3.15616171635324e-25
KIRC	EEF1A2	RPL4	-2.62009040507781	3.30026076039221e-08
KIRP	EEF1A2	RAN	-1.52465218388642	4.5965425670147e-06
LIHC	EEF1A2	RAN	-1.18561048767513	4.92124311953285e-07
KIRC	EEF1A2	RPL8	-1.18252459971773	5.64962994208288e-07
KIRP	EEF1A2	RPL8	-1.53003692350119	6.0301274061203e-05

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

PPI interactors with EEF1A2

VARS, EEF1D, EEF1B2, MGMT, SRRM2, PTEN, MAPK6, ARRB1, ARRB2, TCF3, ISG15, FBXO25, NFX1, CUL3, CUL4A, CUL4B, CUL5, CUL2, CUL1, COPS5, COPS6, DCUN1D1, CAND1, NEDD8, UBXN6, TTLL12, YWHAE, BTK, US3, CD81, IGSF8, CDK3, PARK2, AHCY, SHFM1, RPA3, RPA2, RPA1, ERG, TRIM25, LGR4, UBC, AURKA, CEP57, HAUS2, CEP76, TUBG1, VCP, ABTB1, PBDC1, NXPH2, NUFIP1, DGUOK, C4orf19, HEXIM1, HOMER1, TMEM25, WDR53, DCP2, DDHD2, GJA1, RNF26, EEF1G, FAM177A1, PLK2, CDK7, ACTB, ACTG1, POLR1A, EEF2, EFTUD2, GMPPB, GORASP2, PABPC1, PABPC3, PKLR, PKM, POLR2A, PSMD1, RPL12, RPL30, RPL4, RPSA, STK11, ID2, CRY2, MCM2, MCM5, ESRRB, CDC37, CDC73, DPF3, WWP2, EEF1A1, N6AMT2, CARS, PSG1, IL36A, FGB, SNRNP27, PITHD1, RAB1A, GTF2E2, CTAGE5, ZNF490, GYPA, LRRC56, MLLT6, FUOM, CKS1B, TPT1, NCSTN, HSPB8, GJB7, SLC38A7, SLC13A5, SREK1IP1, TBXAS1, BTNL3, RPS11, PPIAL4G, DHX57, ST6GALNAC1, USP47, TLE3, DBF4, FLT4, CYLD, MTF1, HNRNPL, UBE2M, SOCS2, SPDL1, MEPCE, LARP7, RUNX1, RNF123, PPT1, AGR2, CDK9, GRWD1, METTL14, KIAA1429, USP18, PSMA3, PRKD2, ARMC12, USP14, NR2C2, AGRN, PSMD14, Dppa3, SMN1, BRD7, OBSL1, PLEKHA4, MAGEA3, YAP1, TFCP2, ORF3a, M, nsp4, nsp6, ORF7a, ORF7b, CHMP4C, NMRAL1, SUMO2, Apc2, HDAC1, FMR1, UBE3A, RIN3, DNAJB1, KDM4C, KDM4D, NUDT21, POU2F1, CD274, NAA40, S100P, STC2, RSPH6A, ESCO2, ERP27, DNMT3B, EIF1B, GSX1, OR13G1, HOXC5, CEBPB, DLX6, ZMYM6, ZFP42, FAM24B, CARD9, ASB10, RANBP17, DUSP23, DNAJC12, OR4D2, CEBPG, KIAA0895, ZIC2, PAG1, ETV3, FBXL22, SCRT2, SLC25A3, JPH3, TRERF1, GPM6A, GPR113, CAB39, DAZL, RPL35A, GAS8-AS1, PLAGL2, ARMS2, CEACAM8, EZH2, FHL2, H3F3B, SERPINB3, TF, SERPINB4, IGHG1, MAGEA1, S100A7A, IGKC, KTN1, IVL, IGLL5, UBR5, FGD5, Wdr82, ZEB1, PIGR,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
EEF1A2	chr20	62119654	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62119659	CCGCCTTCTG	C	Microsatellite	Conflicting_interpretations_of_pathogenicity	Epileptic_encephalopathy,_early_infantile,_33\|not_specified\|not_provided	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
EEF1A2	chr20	62119660	C	T	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62119661	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62119669	C	T	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62119698	C	T	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62119702	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62119705	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62119708	G	A	single_nucleotide_variant	Benign	Seizures\|Epileptic_encephalopathy,_early_infantile,_33\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62119708	G	T	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62119717	C	T	single_nucleotide_variant	Benign	Seizures\|Epileptic_encephalopathy,_early_infantile,_33\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62119723	G	A	single_nucleotide_variant	Benign/Likely_benign	Seizures\|Epileptic_encephalopathy,_early_infantile,_33\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62119734	C	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62119734	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62119741	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62119741	G	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62119747	C	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62119747	C	G	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62119747	C	T	single_nucleotide_variant	Benign/Likely_benign	Seizures\|Epileptic_encephalopathy,_early_infantile,_33\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62119748	G	A	single_nucleotide_variant	Likely_pathogenic	EEF1A2-related_developmental_and_degenerative_epileptic-dyskinetic_encephalopathy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62119754	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62119762	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62119768	G	T	single_nucleotide_variant	Benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62119774	G	A	single_nucleotide_variant	Likely_benign	Seizures\|Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62119776	G	A	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Epileptic_encephalopathy,_early_infantile,_33\|Inborn_genetic_diseases\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62119777	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62119777	G	GC	Duplication	Likely_pathogenic	not_provided	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
EEF1A2	chr20	62119777	G	T	single_nucleotide_variant	Benign/Likely_benign	Seizures\|Epileptic_encephalopathy,_early_infantile,_33\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62119780	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
EEF1A2	chr20	62119782	G	T	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62119786	G	C	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62119787	C	CG	Duplication	Benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62119787	CG	C	Deletion	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62119793	G	A	single_nucleotide_variant	Benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62119813	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62119822	A	AC	Duplication	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62119822	AC	A	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62119875	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62120030	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62120106	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62120261	C	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62120265	G	A	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62120272	G	A	single_nucleotide_variant	Benign	Seizures\|Epileptic_encephalopathy,_early_infantile,_33\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62120302	A	G	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62120317	C	T	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62120320	C	G	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62120332	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62120332	G	T	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62120339	G	T	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62120353	C	A	single_nucleotide_variant	Benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62120370	C	T	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62120376	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62120385	C	G	single_nucleotide_variant	Likely_pathogenic	EEF1A2-related_developmental_and_degenerative_epileptic-dyskinetic_encephalopathy\|Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62120394	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Intellectual_disability\|Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62120397	C	G	single_nucleotide_variant	Likely_pathogenic	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62120398	A	T	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62120399	A	G	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62120403	TCTC	T	Deletion	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
EEF1A2	chr20	62120433	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62120440	T	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62120470	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62120471	G	A	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62120485	C	T	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62120510	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62120513	C	T	single_nucleotide_variant	Benign	Intellectual_disability\|Epileptic_encephalopathy,_early_infantile,_33\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62120515	G	T	single_nucleotide_variant	Benign	Epileptic_encephalopathy,_early_infantile,_33\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62120535	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62120567	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62120569	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62120639	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62120725	A	AAGGGGC	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62120773	C	CG	Duplication	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62121665	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62121702	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62121726	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62121801	C	CCAGCCCCCTGGACCCAGCG	Duplication	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62121819	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62121820	G	A	single_nucleotide_variant	Benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62121821	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62121826	C	T	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62121828	C	G	single_nucleotide_variant	Benign/Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62121829	C	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62121829	C	G	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62121841	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62121849	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62121859	C	T	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62121862	C	T	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62121877	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62121890	T	C	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62121900	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62121903	T	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62121907	C	T	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62121913	C	T	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62121918	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62121919	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62121928	A	G	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62121931	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62121937	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62121940	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62121946	G	A	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62121949	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62121961	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62121966	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62121973	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62121973	G	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62121985	C	T	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62121988	T	C	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62121998	T	A	single_nucleotide_variant	Uncertain_significance	Inborn_genetic_diseases	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62121998	T	C	single_nucleotide_variant	Likely_pathogenic	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62122003	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62122018	C	T	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62122019	G	A	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62122040	G	A	single_nucleotide_variant	Likely_pathogenic	Mental_retardation,_autosomal_dominant_38\|Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62122054	G	A	single_nucleotide_variant	Likely_benign	Seizures\|Epileptic_encephalopathy,_early_infantile,_33\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62122065	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	EEF1A2-related_developmental_and_degenerative_epileptic-dyskinetic_encephalopathy\|EEF1A2-related_disorders\|Mental_retardation,_autosomal_dominant_38\|Epileptic_encephalopathy,_early_infantile,_33\|Inborn_genetic_diseases\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62122069	C	G	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62122072	G	A	single_nucleotide_variant	Benign/Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62122078	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62122079	G	A	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62122082	C	A	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62122094	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62122095	A	T	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62122103	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62122211	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62122230	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62122257	AG	A	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62122286	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62122290	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62124168	A	AGGAT	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62124182	A	AATGG	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62124459	G	T	single_nucleotide_variant	Benign	Mental_retardation,_autosomal_dominant_38\|Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62124477	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62124480	C	T	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62124490	C	T	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62124491	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62124498	T	C	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62124503	C	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62124508	C	G	single_nucleotide_variant	Pathogenic	Mental_retardation,_autosomal_dominant_38\|Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62124515	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62124523	G	A	single_nucleotide_variant	Uncertain_significance	Seizures\|Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62124524	C	G	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62124527	G	C	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62124536	C	T	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62124543	C	T	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62124545	C	T	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62124546	G	A	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62124548	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62124548	G	C	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62124548	G	T	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62124550	G	T	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62124569	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62124580	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62124587	G	A	single_nucleotide_variant	Benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62124589	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62124590	G	A	single_nucleotide_variant	Benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62124596	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62124616	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62124624	C	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62124629	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62124636	G	A	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62124644	G	C	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62124666	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62124674	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62124731	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62125890	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62125933	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62125934	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62125999	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62126148	C	T	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62126149	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62126158	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126159	T	C	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126185	A	G	single_nucleotide_variant	Benign	Seizures\|Mental_retardation,_autosomal_dominant_38\|Epileptic_encephalopathy,_early_infantile,_33\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126188	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126208	C	T	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126218	G	A	single_nucleotide_variant	Benign/Likely_benign	Seizures\|Epileptic_encephalopathy,_early_infantile,_33\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126236	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126236	G	C	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126239	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126243	T	C	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126247	T	A	single_nucleotide_variant	Uncertain_significance	Mental_retardation,_autosomal_dominant_38\|Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126249	T	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126253	C	T	single_nucleotide_variant	Benign/Likely_benign	Seizures\|Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126255	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126266	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126266	G	T	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126273	T	C	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126274	C	T	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126275	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126278	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126289	C	T	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126290	G	A	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126292	T	C	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126298	CC	TT	Indel	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126299	C	T	single_nucleotide_variant	Benign	Seizures\|Epileptic_encephalopathy,_early_infantile,_33\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126302	C	T	single_nucleotide_variant	Likely_benign	Seizures\|Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126308	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126314	C	T	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126320	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126327	C	T	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126332	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126353	C	T	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126354	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126355	T	C	single_nucleotide_variant	Uncertain_significance	Seizures	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126367	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126379	G	A	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126380	C	T	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126381	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126403	C	G	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126404	C	T	single_nucleotide_variant	Benign	Seizures\|Epileptic_encephalopathy,_early_infantile,_33\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126405	G	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	EEF1A2-related_developmental_and_degenerative_epileptic-dyskinetic_encephalopathy\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126409	C	T	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Intellectual_disability\|Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126410	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126415	C	T	single_nucleotide_variant	Pathogenic/Likely_pathogenic	EEF1A2-related_developmental_and_degenerative_epileptic-dyskinetic_encephalopathy\|Mental_retardation,_autosomal_dominant_38\|Epileptic_encephalopathy,_early_infantile,_33\|Inborn_genetic_diseases\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126416	G	A	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126422	G	A	single_nucleotide_variant	Benign/Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126425	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126428	C	T	single_nucleotide_variant	Benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126429	G	A	single_nucleotide_variant	Uncertain_significance	Seizures	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62126434	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126437	C	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126443	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62126462	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62126487	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62126488	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62126685	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62126745	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62127116	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62127121	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62127203	G	GC	Duplication	Conflicting_interpretations_of_pathogenicity	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62127206	C	T	single_nucleotide_variant	Likely_benign	Seizures	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62127222	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62127228	A	G	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62127240	A	C	single_nucleotide_variant	Likely_pathogenic	EEF1A2-related_developmental_and_degenerative_epileptic-dyskinetic_encephalopathy	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62127245	G	A	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62127248	G	T	single_nucleotide_variant	Likely_pathogenic	EEF1A2-related_disorders	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62127254	G	A	single_nucleotide_variant	Benign/Likely_benign	Seizures\|Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62127257	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62127259	C	T	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62127260	A	G	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62127262	C	T	single_nucleotide_variant	Pathogenic/Likely_pathogenic	EEF1A2-related_developmental_and_degenerative_epileptic-dyskinetic_encephalopathy\|Mental_retardation,_autosomal_dominant_38\|Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62127278	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
EEF1A2	chr20	62127293	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62127296	C	T	single_nucleotide_variant	Benign	Seizures\|Epileptic_encephalopathy,_early_infantile,_33\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62127302	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62127314	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62127325	C	T	single_nucleotide_variant	Pathogenic	EEF1A2-related_developmental_and_degenerative_epileptic-dyskinetic_encephalopathy\|Intellectual_disability\|Mental_retardation,_autosomal_dominant_38\|Epileptic_encephalopathy,_early_infantile,_33\|Inborn_genetic_diseases\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62127326	G	A	single_nucleotide_variant	Benign	Seizures\|Epileptic_encephalopathy,_early_infantile,_33\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62127328	G	A	single_nucleotide_variant	Likely_pathogenic	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62127339	G	A	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62127350	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62127353	C	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62127353	C	G	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62127362	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62127381	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62127383	C	A	single_nucleotide_variant	Benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62127383	C	G	single_nucleotide_variant	Likely_benign	Seizures\|Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62127393	AGC	A	Deletion	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62127395	C	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62127395	C	T	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62127396	G	C	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62127411	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62127426	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62127521	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62127584	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62127618	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62128735	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62128895	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62128927	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62128946	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62128979	C	T	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62128980	G	A	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62128988	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62128991	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62128993	A	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62128997	C	T	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62129000	A	G	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62129004	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62129045	C	T	single_nucleotide_variant	Benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62129046	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Mental_retardation,_autosomal_dominant_38\|Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62129050	T	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62129063	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62129063	G	C	single_nucleotide_variant	Benign/Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62129068	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	EEF1A2-related_developmental_and_degenerative_epileptic-dyskinetic_encephalopathy\|Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62129071	C	G	single_nucleotide_variant	Likely_pathogenic	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62129072	G	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62129077	C	T	single_nucleotide_variant	Uncertain_significance	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62129087	G	A	single_nucleotide_variant	Benign/Likely_benign	Epileptic_encephalopathy,_early_infantile,_33\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
EEF1A2	chr20	62129089	T	A	single_nucleotide_variant	Likely_benign	Epileptic_encephalopathy,_early_infantile,_33	SO:0001583\|missense_variant	SO:0001583\|missense_variant
EEF1A2	chr20	62129090	GTTGATGTGGGTCT	G	Deletion	Uncertain_significance	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
EEF1A2	chr20	62129141	C	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
EEF1A2	chr20	62129141	C	T	single_nucleotide_variant	Benign	not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
EEF1A2	chr20	62129148	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
EEF1A2	chr20	62129149	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
EEF1A2	chr20	62129168	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
EEF1A2	chr20	62130311	T	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62130351	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62130393	GG	T	Indel	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62130403	G	T	single_nucleotide_variant	Benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62130404	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
EEF1A2	chr20	62130469	C	T	single_nucleotide_variant	Benign	not_provided

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
EEF1A2	BLCA	chr20	62120282	62120282	T	G	Missense_Mutation	p.Y418S	12
EEF1A2	BLCA	chr20	62121972	62121972	C	T	Missense_Mutation	p.E297K	4
EEF1A2	KIRC	chr20	62122020	62122020	C	T	Missense_Mutation	p.A281T	4
EEF1A2	BRCA	chr20	62119747	62119747	C	T	Silent	p.T432	4
EEF1A2	LUAD	chr20	62126425	62126425	C	A	Silent	p.A118A	3
EEF1A2	CESC	chr20	62121960	62121960	C	T	Missense_Mutation	p.E301K	3
EEF1A2	ESCA	chr20	62127339	62127339	G	A	Missense_Mutation	p.A65V	3
EEF1A2	SKCM	chr20	62126332	62126332	G	A	Silent	p.I149I	3
EEF1A2	HNSC	chr20	62122079	62122079	G	A	Missense_Mutation	p.T261M	3
EEF1A2	SKCM	chr20	62126344	62126344	C	T	Silent	p.V145V	3
EEF1A2	LUAD	chr20	62126415	62126415	C	A	Nonsense_Mutation	p.E122*	3
EEF1A2	LIHC	chr20	62126327	62126327	C	-	Frame_Shift_Del	p.G151fs	3
EEF1A2	ACC	chr20	62119708	62119708	G	A	Silent	p.S445S	2
EEF1A2	LUAD	chr20	62121879	62121879	C	T	Missense_Mutation	p.D328N	2
EEF1A2	STAD	chr20	62127345	62127345	A	G	Missense_Mutation	p.L63P	2
EEF1A2	SKCM	chr20	62127295	62127295	A	G	Missense_Mutation	p.F80L	2
EEF1A2	UCEC	chr20	62124599	62124599	G	A	Silent	p.G221	2
EEF1A2	BLCA	chr20	62120353	62120353	C	T	Silent	p.L394L	2
EEF1A2	STAD	chr20	62126345	62126345	A	G	Missense_Mutation	p.V145A	2
EEF1A2	SKCM	chr20	62120406	62120406	C	T	Missense_Mutation	p.E377K	2
EEF1A2	UCEC	chr20	62127262	62127262	C	T	Missense_Mutation	p.D91N	2
EEF1A2	LUAD	chr20	62126186	62126186	C	A	Missense_Mutation	p.G198V	2
EEF1A2	SKCM	chr20	62120337	62120337	C	T	Missense_Mutation	p.A400T	2
EEF1A2	ESCA	chr20	62127339	62127339	G	A	Missense_Mutation		2
EEF1A2	UCEC	chr20	62129020	62129020	C	T	Missense_Mutation	p.G33S	2
EEF1A2	SKCM	chr20	62120338	62120338	C	T	Silent	p.A399A	2
EEF1A2	BLCA	chr20	62121972	62121972	C	T	Missense_Mutation		2
EEF1A2	UCEC	chr20	62129188	62129188	C	A	Splice_Site	e1-1	2
EEF1A2	LIHC	chr20	62124514	62124514	G	A	Silent		2
EEF1A2	SKCM	chr20	62126323	62126323	C	T	Silent	p.V152V	2
EEF1A2	SKCM	chr20	62120348	62120348	G	A	Missense_Mutation	p.S396F	2
EEF1A2	LUAD	chr20	62122063	62122063	C	A	Silent	p.R266R	2
EEF1A2	PAAD	chr20	62120272	62120272	G	A	Silent	p.L421L	2
EEF1A2	SKCM	chr20	62122033	62122033	C	T	Missense_Mutation	p.M276I	2
EEF1A2	CESC	chr20	62124600	62124600	C	T	Missense_Mutation		2
EEF1A2	LIHC	chr20	62120486	62120486	G	C	Missense_Mutation		2
EEF1A2	STAD	chr20	62120306	62120306	A	G	Missense_Mutation		2
EEF1A2	BLCA	chr20	62120317	62120317	C	A	Silent	p.P406P	2
EEF1A2	CESC	chr20	62121919	62121919	G	A	Silent		2
EEF1A2	KICH	chr20	62127325	62127325	C	T	Missense_Mutation	p.G70S	2
EEF1A2	PRAD	chr20	62120459	62120459	G	A	Missense_Mutation	p.P359L	2
EEF1A2	LIHC	chr20	62127358	62127358	C	-	Frame_Shift_Del	p.V59fs	2
EEF1A2	STAD	chr20	62120306	62120306	A	G	Missense_Mutation	p.M410T	2
EEF1A2	BLCA	chr20	62127331	62127331	C	G	Missense_Mutation	p.E68Q	2
EEF1A2	CESC	chr20	62126344	62126344	C	T	Silent		2
EEF1A2	COAD	chr20	62126325	62126325	C	T	Missense_Mutation	p.V152M	2
EEF1A2	LIHC	chr20	62127254	62127254	G	-	Frame_Shift_Del	p.P93fs	2
EEF1A2	STAD	chr20	62126331	62126331	C	T	Missense_Mutation	p.V150M	2
EEF1A2	CESC	chr20	62121960	62121960	C	T	Missense_Mutation		2
EEF1A2	SKCM	chr20	62126410	62126410	G	A	Silent	p.F123F	2
EEF1A2	UCEC	chr20	62121913	62121913	C	T	Silent	p.S316	2
EEF1A2	COAD	chr20	62126388	62126388	C	T	Missense_Mutation	p.G131R	1
EEF1A2	SKCM	chr20	62127253	62127253	C	G	Missense_Mutation	p.G94R	1
EEF1A2	HNSC	chr20	62126265	62126265	T	G	Missense_Mutation		1
EEF1A2	CESC	chr20	62121919	62121919	G	A	Silent	p.N314	1
EEF1A2	LUAD	chr20	62121997	62121997	C	A	Missense_Mutation	p.E288D	1
EEF1A2	SKCM	chr20	62126269	62126269	G	A	Silent	p.I170I	1
EEF1A2	BLCA	chr20	62120317	62120317	C	A	Silent		1
EEF1A2	COAD	chr20	62127233	62127233	C	A	Missense_Mutation	p.K100N	1
EEF1A2	HNSC	chr20	62122079	62122079	G	A	Missense_Mutation		1
EEF1A2	LUSC	chr20	62120333	62120333	A	G	Missense_Mutation	p.I401T	1
EEF1A2	KIRC	chr20	62128979	62128979	C	T	Silent	p.A46A	1
EEF1A2	SKCM	chr20	62127379	62127379	C	T	Missense_Mutation	p.G52R	1
EEF1A2	BLCA	chr20	62127331	62127331	C	G	Missense_Mutation		1
EEF1A2	BLCA	chr20	62120422	62120422	C	T	Silent	p.K371K	1
EEF1A2	HNSC	chr20	62126185	62126185	A	G	Silent		1
EEF1A2	LUSC	chr20	62121863	62121863	G	T	Missense_Mutation	p.P333Q	1
EEF1A2	STAD	chr20	62121899	62121899	C	T	Missense_Mutation	p.R321Q	1
EEF1A2	CESC	chr20	62126344	62126344	C	T	Silent	p.V145	1
EEF1A2	KIRP	chr20	62126370	62126370	C	T	Missense_Mutation	p.A137T	1
EEF1A2	LUAD	chr20	62121927	62121927	C	A	Missense_Mutation	p.V312L	1
EEF1A2	SKCM	chr20	62121832	62121832	C	T	Splice_Site	p.Q343_splice	1
EEF1A2	BLCA	chr20	62129078	62129078	G	A	Silent		1
EEF1A2	BLCA	chr20	62129093	62129093	G	C	Missense_Mutation	p.I8M	1
EEF1A2	HNSC	chr20	62121936	62121936	C	T	Missense_Mutation	p.G309S	1
EEF1A2	OV	chr20	61590152	61590152	G	A	Silent	p.S445	1
EEF1A2	STAD	chr20	62126389	62126389	A	G	Silent	p.N130N	1
EEF1A2	COAD	chr20	62119735	62119735	G	A	Silent	p.G436G	1
EEF1A2	LGG	chr20	62127281	62127281	C	G	Missense_Mutation	p.K84N	1
EEF1A2	LUAD	chr20	62121989	62121989	G	A	Missense_Mutation	p.S291L	1
EEF1A2	GBM	chr20	62122078	62122078	C	T	Silent	p.T261T	1
EEF1A2	PAAD	chr20	62126299	62126299	C	T	Silent		1
EEF1A2	STAD	chr20	62126392	62126392	C	T	Silent	p.K129K	1
EEF1A2	COAD	chr20	62120430	62120430	C	T	Missense_Mutation	p.A369T	1
EEF1A2	LIHC	chr20	62124514	62124514	G	A	Silent	p.L250L	1
EEF1A2	BLCA	chr20	62120353	62120353	C	T	Silent		1
EEF1A2	GBM	chr20	62126254	62126254	G	A	Silent	p.S175S	1
EEF1A2	HNSC	chr20	62126260	62126264	TTCCT	-	Frame_Shift_Del	p.KE172fs	1
EEF1A2	PAAD	chr20	62120272	62120272	G	A	Silent		1
EEF1A2	TGCT	chr20	62119705	62119705	G	T	Silent		1
EEF1A2	UCS	chr20	62121890	62121890	T	G	Missense_Mutation		1
EEF1A2	COAD	chr20	62124547	62124548	-	G	Frame_Shift_Ins	p.T239fs	1
EEF1A2	LIHC	chr20	62124502	62124502	A	T	Missense_Mutation		1
EEF1A2	LIHC	chr20	62120486	62120486	G	C	Missense_Mutation	p.P350R	1
EEF1A2	SKCM	chr20	62126156	62126156	A	C	Splice_Site		1
EEF1A2	BLCA	chr20	62120422	62120422	C	T	Silent		1
EEF1A2	GBM	chr20	62122024	62122024	G	A	Silent		1
EEF1A2	BRCA	chr20	62126185	62126185	A	G	Silent	p.G198	1
EEF1A2	HNSC	chr20	62126260	62126264	TTCCT	-	Frame_Shift_Del	p.K172fs	1
EEF1A2	THCA	chr20	62127326	62127326	G	A	Silent		1
EEF1A2	COAD	chr20	62124548	62124548	G	-	Frame_Shift_Del	p.T239fs	1
EEF1A2	LIHC	chr20	62124631	62124631	A	G	Missense_Mutation		1
EEF1A2	LIHC	chr20	62121898	62121898	C	G	Silent	p.R321R	1
EEF1A2	LUAD	chr20	62122069	62122069	C	A	Silent	p.V264V	1
EEF1A2	SKCM	chr20	62126161	62126161	G	A	Silent	p.P206P	1
EEF1A2	BLCA	chr20	62129093	62129093	G	C	Missense_Mutation		1
EEF1A2	GBM	chr20	62126254	62126254	G	A	Silent		1
EEF1A2	KICH	chr20	62121830	62121830	A	C	Splice_Site		1
EEF1A2	PAAD	chr20	62122019	62122019	G	A	Missense_Mutation	p.A281V	1
EEF1A2	THYM	chr20	62124587	62124587	G	A	Silent	p.G225G	1
EEF1A2	COAD	chr20	62124595	62124595	C	T	Missense_Mutation	p.A223T	1
EEF1A2	SKCM	chr20	62127305	62127305	G	A	Silent	p.S76S	1
EEF1A2	LUAD	chr20	62120437	62120437	G	T	Silent	p.A366A	1
EEF1A2	GBM	chr20	62126236	62126236	G	A	Silent		1
EEF1A2	THYM	chr20	62121862	62121862	C	T	Silent	p.P333P	1
EEF1A2	COAD	chr20	62126185	62126185	A	G	Silent	p.G198G	1
EEF1A2	SKCM	chr20	62126219	62126219	G	C	Missense_Mutation	p.T187S	1
EEF1A2	HNSC	chr20	62121936	62121936	C	T	Missense_Mutation		1
EEF1A2	LUAD	chr20	62126223	62126223	C	A	Missense_Mutation	p.A186S	1
EEF1A2	KICH	chr20	62121830	62121830	A	C	Splice_Site	.	1
EEF1A2	PRAD	chr20	62121900	62121900	G	A	Missense_Mutation	p.R321W	1
EEF1A2	UCEC	chr20	62121913	62121913	C	T	Silent	p.S316S	1
EEF1A2	SKCM	chr20	62126218	62126218	G	A	Silent	p.T187T	1
EEF1A2	BLCA	chr20	62129078	62129078	G	A	Silent	p.I13I	1
EEF1A2	HNSC	chr20	62126260	62126264	TTCCT	-	Frame_Shift_Del		1
EEF1A2	LUAD	chr20	62126429	62126429	G	T	Missense_Mutation	p.A117E	1
EEF1A2	KICH	chr20	62121830	62121830	A	C	Splice_Site	p.Q343_splice	1

Copy number variation (CNV) of EEF1A2
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across EEF1A2
* 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
55506	COAD	TCGA-DM-A0XF-01A	BMP7	chr20	55840761	-	EEF1A2	chr20	62129187	-
103246	BRCA	TCGA-D8-A1XD	EEF1A2	chr20	62121831	-	DKKL1	chr19	49877973	+
103246	BRCA	TCGA-D8-A1XD-01A	EEF1A2	chr20	62121832	-	DKKL1	chr19	49877974	+
55506	N/A	BQ302601	EEF1A2	chr20	62126430	+	EEF1A2	chr20	62121865	-
96582	LUAD	TCGA-44-2656-01A	EEF1A2	chr20	62124490	-	ZBTB46	chr20	62407315	-
55516	LUSC	TCGA-63-A5MM-01A	MTAP	chr9	21802780	+	EEF1A2	chr20	62127388	-

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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

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Translation factor and Gender

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

Cancer type	Translation factor	pval	adj.p
KIRP	EEF1A2	0.00963137196115192	0.27
LGG	EEF1A2	0.0293149010506986	0.79

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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
LUAD	EEF1A2	0.0200465501375119	0.62
UCEC	EEF1A2	0.00269420951968913	0.089
MESO	EEF1A2	0.00559385732172658	0.18

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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

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Related Diseases

Diseases associated with this translation factor.
(DisGeNet 4.0)

Disease ID	Disease Name	# PubMeds	Disease source
C4225337	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 33	3	CTD_human;GENOMICS_ENGLAND;UNIPROT
C0014544	Epilepsy	1	CTD_human
C0024623	Malignant neoplasm of stomach	1	CTD_human
C0086237	Epilepsy, Cryptogenic	1	CTD_human
C0751111	Awakening Epilepsy	1	CTD_human
C1708349	Hereditary Diffuse Gastric Cancer	1	CTD_human
C4225343	MENTAL RETARDATION, AUTOSOMAL DOMINANT 38	1	CTD_human;UNIPROT