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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: GFM1 (NCBI Gene ID:85476)

Gene Summary

Gene Summary

Gene Information	Gene Name: GFM1
	Gene ID: 85476
	Gene Symbol	GFM1
	Gene ID	85476
	Gene Name	G elongation factor mitochondrial 1
	Synonyms	COXPD1\|EFG\|EFG1\|EFGM\|EGF1\|GFM\|hEFG1\|mtEF-G1
	Cytomap	3q25.32
	Type of Gene	protein-coding
	Description	elongation factor G, mitochondrialG translation elongation factor, mitochondrialmitochondrial elongation factor Gmitochondrial elongation factor G1
	Modification date	20200313
	UniProtAcc	Q96RP9

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

GO ID	GO term
GO:0006417	Regulation of translation
GO:0032543	Mitochondrial 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	GFM1	GO:0070125	mitochondrial translational elongation	19716793

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
GFM1	>1119.25

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Translation Studies in PubMed

We searched PubMed using 'GFM1[title] AND translation [title] AND human.'

Gene	Title	PMID
GFM1	.	.

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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
ENST00000486715	158366829	158366946	In-frame
ENST00000486715	158372335	158372420	Frame-shift
ENST00000486715	158376710	158376848	In-frame
ENST00000486715	158402312	158402457	Frame-shift
ENST00000486715	158407951	158408112	Frame-shift
ENST00000486715	158408927	158408981	In-frame

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)
ENST00000486715	158366829	158366946	3738	930	1046	751	191	229
ENST00000486715	158376710	158376848	3738	1441	1578	751	361	407
ENST00000486715	158408927	158408981	3738	2428	2481	751	690	708

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.
Q96RP9	690	708	37	751	Chain	ID=PRO_0000007440;Note=Elongation factor G%2C mitochondrial
Q96RP9	191	229	37	751	Chain	ID=PRO_0000007440;Note=Elongation factor G%2C mitochondrial
Q96RP9	361	407	37	751	Chain	ID=PRO_0000007440;Note=Elongation factor G%2C mitochondrial
Q96RP9	191	229	44	321	Domain	Note=tr-type G
Q96RP9	191	229	215	215	Natural variant	ID=VAR_028303;Note=V->I;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:14702039;Dbxref=dbSNP:rs2303909,PMID:14702039
Q96RP9	361	407	373	373	Sequence conflict	Note=S->C;Ontology_term=ECO:0000305;evidence=ECO:0000305

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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
KIRP	GFM1	-3.60557651795202	0.00154796987771988
KICH	GFM1	1.05246565332639	0.00378090143203735
LUAD	GFM1	-2.84901818322678	4.2869535120076e-07
BRCA	GFM1	1.76831243345242	7.05963288731276e-10

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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

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
LAML	GFM1	0.064351502	0.001121094
KIRP	GFM1	-0.041964171	0.037579958

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with GFM1 (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
CHOL	Cell metabolism gene	GFM1	GLUD2	0.80304453	3.20E-11
CHOL	Cell metabolism gene	GFM1	CPOX	0.822866856	4.05E-12
CHOL	Cell metabolism gene	GFM1	MANEA	0.826806602	2.60E-12
CHOL	CGC	GFM1	NCOA4	0.864210389	2.07E-14
CHOL	IUPHAR	GFM1	SLC31A1	0.852647606	1.06E-13
CHOL	TSG	GFM1	RAD23B	0.82709002	2.52E-12
CHOL	TSG	GFM1	NCOA4	0.864210389	2.07E-14
DLBC	CGC	GFM1	POLQ	0.808337832	3.73E-12
KICH	Cell metabolism gene	GFM1	TOMM70A	0.803670992	9.02E-22
KICH	Cell metabolism gene	GFM1	PIK3R4	0.811915371	1.62E-22
KICH	Epifactor	GFM1	PPP4R2	0.829134827	3.37E-24
KICH	IUPHAR	GFM1	PIK3R4	0.811915371	1.62E-22
KICH	Kinase	GFM1	PIK3R4	0.811915371	1.62E-22
PCPG	Cell metabolism gene	GFM1	PIK3R4	0.812219176	3.58E-45
PCPG	IUPHAR	GFM1	PIK3R4	0.812219176	3.58E-45
PCPG	Kinase	GFM1	PIK3R4	0.812219176	3.58E-45
THCA	Cell metabolism gene	GFM1	ACADM	0.80420937	6.61E-131
THCA	Cell metabolism gene	GFM1	DLAT	0.818937345	1.38E-139
THCA	Cell metabolism gene	GFM1	DLD	0.828804573	7.38E-146
THCA	Cell metabolism gene	GFM1	NNT	0.832600207	2.23E-148
THCA	Cell metabolism gene	GFM1	SUCLA2	0.832731679	1.82E-148
THCA	Cell metabolism gene	GFM1	ACADSB	0.835408043	2.77E-150
THCA	Cell metabolism gene	GFM1	MUT	0.842737606	1.96E-155
THCA	Cell metabolism gene	GFM1	ALDH6A1	0.842759915	1.89E-155
THCA	IUPHAR	GFM1	SLC30A9	0.877957104	1.72E-184
THYM	Cell metabolism gene	GFM1	RPE	0.804398257	6.55E-29
THYM	Cell metabolism gene	GFM1	PAFAH1B2	0.806785782	3.38E-29
THYM	Cell metabolism gene	GFM1	ARFGEF2	0.811300304	9.47E-30
THYM	Cell metabolism gene	GFM1	MGAT5	0.817223556	1.69E-30
THYM	Cell metabolism gene	GFM1	PRKAR2A	0.817571825	1.52E-30
THYM	Cell metabolism gene	GFM1	GNA11	0.818946609	1.01E-30
THYM	CGC	GFM1	TRIP11	0.805130476	5.36E-29
THYM	CGC	GFM1	PAFAH1B2	0.806785782	3.38E-29
THYM	CGC	GFM1	GOLGA5	0.810792488	1.09E-29
THYM	CGC	GFM1	GNA11	0.818946609	1.01E-30
THYM	CGC	GFM1	MAP3K13	0.819098776	9.64E-31
THYM	Epifactor	GFM1	RPS6KA5	0.802336671	1.15E-28
THYM	Epifactor	GFM1	ASH1L	0.803140048	9.25E-29
THYM	IUPHAR	GFM1	RPS6KA5	0.802336671	1.15E-28
THYM	IUPHAR	GFM1	NIPAL2	0.80234478	1.15E-28
THYM	IUPHAR	GFM1	ASH1L	0.803140048	9.25E-29
THYM	IUPHAR	GFM1	IDE	0.807261461	2.96E-29
THYM	IUPHAR	GFM1	PRKAR2A	0.817571825	1.52E-30
THYM	IUPHAR	GFM1	SLK	0.81842483	1.18E-30
THYM	IUPHAR	GFM1	MAP3K13	0.819098776	9.64E-31
THYM	IUPHAR	GFM1	CLCN3	0.821866604	4.18E-31
THYM	IUPHAR	GFM1	SLC30A5	0.830262058	3.01E-32
THYM	IUPHAR	GFM1	MAP3K2	0.830277814	2.99E-32
THYM	IUPHAR	GFM1	SLC30A6	0.833906569	9.17E-33
THYM	IUPHAR	GFM1	ATP6V1A	0.847936912	7.15E-35
THYM	Kinase	GFM1	RPS6KA5	0.802336671	1.15E-28
THYM	Kinase	GFM1	SLK	0.81842483	1.18E-30
THYM	Kinase	GFM1	MAP3K13	0.819098776	9.64E-31
THYM	Kinase	GFM1	MAP3K2	0.830277814	2.99E-32
THYM	TF	GFM1	ASH1L	0.803140048	9.25E-29
THYM	TF	GFM1	ETV3	0.819204501	9.34E-31
THYM	TF	GFM1	ZBTB41	0.825037257	1.57E-31
THYM	TF	GFM1	ATF6	0.863990986	1.46E-37
UCS	Cell metabolism gene	GFM1	RPE	0.804398257	6.55E-29
UCS	Cell metabolism gene	GFM1	PAFAH1B2	0.806785782	3.38E-29
UCS	Cell metabolism gene	GFM1	ARFGEF2	0.811300304	9.47E-30
UCS	Cell metabolism gene	GFM1	MGAT5	0.817223556	1.69E-30
UCS	Cell metabolism gene	GFM1	PRKAR2A	0.817571825	1.52E-30
UCS	Cell metabolism gene	GFM1	GNA11	0.818946609	1.01E-30
UCS	CGC	GFM1	TRIP11	0.805130476	5.36E-29
UCS	CGC	GFM1	PAFAH1B2	0.806785782	3.38E-29
UCS	CGC	GFM1	GOLGA5	0.810792488	1.09E-29
UCS	CGC	GFM1	GNA11	0.818946609	1.01E-30
UCS	CGC	GFM1	MAP3K13	0.819098776	9.64E-31
UCS	Epifactor	GFM1	RPS6KA5	0.802336671	1.15E-28
UCS	Epifactor	GFM1	ASH1L	0.803140048	9.25E-29
UCS	IUPHAR	GFM1	RPS6KA5	0.802336671	1.15E-28
UCS	IUPHAR	GFM1	NIPAL2	0.80234478	1.15E-28
UCS	IUPHAR	GFM1	ASH1L	0.803140048	9.25E-29
UCS	IUPHAR	GFM1	IDE	0.807261461	2.96E-29
UCS	IUPHAR	GFM1	PRKAR2A	0.817571825	1.52E-30
UCS	IUPHAR	GFM1	SLK	0.81842483	1.18E-30
UCS	IUPHAR	GFM1	MAP3K13	0.819098776	9.64E-31
UCS	IUPHAR	GFM1	CLCN3	0.821866604	4.18E-31
UCS	IUPHAR	GFM1	SLC30A5	0.830262058	3.01E-32
UCS	IUPHAR	GFM1	MAP3K2	0.830277814	2.99E-32
UCS	IUPHAR	GFM1	SLC30A6	0.833906569	9.17E-33
UCS	IUPHAR	GFM1	ATP6V1A	0.847936912	7.15E-35
UCS	Kinase	GFM1	RPS6KA5	0.802336671	1.15E-28
UCS	Kinase	GFM1	SLK	0.81842483	1.18E-30
UCS	Kinase	GFM1	MAP3K13	0.819098776	9.64E-31
UCS	Kinase	GFM1	MAP3K2	0.830277814	2.99E-32
UCS	TF	GFM1	ASH1L	0.803140048	9.25E-29
UCS	TF	GFM1	ETV3	0.819204501	9.34E-31
UCS	TF	GFM1	ZBTB41	0.825037257	1.57E-31
UCS	TF	GFM1	ATF6	0.863990986	1.46E-37
UVM	Cell metabolism gene	GFM1	PRKAR2A	0.802189348	3.78E-19
UVM	Cell metabolism gene	GFM1	TOMM70A	0.803931223	2.77E-19
UVM	Cell metabolism gene	GFM1	B4GALT4	0.805310646	2.17E-19
UVM	Cell metabolism gene	GFM1	DCP1A	0.825888124	4.22E-21
UVM	Cell metabolism gene	GFM1	PIK3R4	0.847758272	3.48E-23
UVM	CGC	GFM1	VHL	0.801269866	4.44E-19
UVM	Epifactor	GFM1	ACTR8	0.831196826	1.40E-21
UVM	Epifactor	GFM1	SFMBT1	0.844880383	6.83E-23
UVM	IUPHAR	GFM1	PRKAR2A	0.802189348	3.78E-19
UVM	IUPHAR	GFM1	ATP2C1	0.842537293	1.17E-22
UVM	IUPHAR	GFM1	PIK3R4	0.847758272	3.48E-23
UVM	IUPHAR	GFM1	SLC35A5	0.853527031	8.67E-24
UVM	IUPHAR	GFM1	GSK3B	0.854292219	7.17E-24
UVM	IUPHAR	GFM1	NEK4	0.86057868	1.46E-24
UVM	Kinase	GFM1	PIK3R4	0.847758272	3.48E-23
UVM	Kinase	GFM1	GSK3B	0.854292219	7.17E-24
UVM	Kinase	GFM1	NEK4	0.86057868	1.46E-24
UVM	TF	GFM1	ZNF619	0.813628338	4.67E-20
UVM	TF	GFM1	UBP1	0.848976353	2.61E-23
UVM	TSG	GFM1	VHL	0.801269866	4.44E-19
UVM	TSG	GFM1	WDR48	0.805981315	1.92E-19
UVM	TSG	GFM1	EAF1	0.828923406	2.26E-21
UVM	TSG	GFM1	GSK3B	0.854292219	7.17E-24

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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
KICH	GFM1	MRPS5	1.25108287838437	0.000249803066253662
KICH	GFM1	MRRF	1.86992130954506	0.0014527440071106
LIHC	GFM1	MRPS7	1.27029395477208	0.00182077236082954
STAD	GFM1	MRPS16	-1.64208084987431	0.00239070039242506
CHOL	GFM1	MRPL3	-2.68429255990621	0.00390625
ESCA	GFM1	MRPL3	-4.97897094908275	0.0048828125
HNSC	GFM1	MRPS16	-2.01564621821803	0.00518989327406416
ESCA	GFM1	MRPL12	-1.00174970895481	0.009765625
PRAD	GFM1	TUFM	-1.2256313171173	0.0103593733400852
CHOL	GFM1	MRPL12	-3.63130566135659	0.01171875
ESCA	GFM1	MRPS5	-2.15440118747854	0.0185546875
STAD	GFM1	MRPL12	-2.48538214070711	0.020511694252491
STAD	GFM1	TUFM	-1.51047864320184	0.0216239951550961
THCA	GFM1	MRPS11	-3.10694728540962	0.0252226935182201
CHOL	GFM1	TUFM	-1.80802756669144	0.02734375
STAD	GFM1	MRPL4	1.4393539135682	0.0279771662317216
LIHC	GFM1	MRRF	-1.19805818879659	0.0305924082275009
BLCA	GFM1	MRPS11	-2.30276998968219	0.040130615234375
KIRP	GFM1	MRPL36	1.03588200500181	0.0433286507613957
LUSC	GFM1	TUFM	-1.71731823082899	1.01729583501094e-06
BRCA	GFM1	MRPL36	-1.94167827329593	1.14465421352297e-11
LUAD	GFM1	MRPS5	-2.20881945885927	1.77904381378076e-06
LUAD	GFM1	MRPL12	-3.43280900900763	1.96929418449732e-09
KIRC	GFM1	MRPL3	1.69955762234244	1.97132191719422e-08
BRCA	GFM1	MRPS11	-1.24304977976804	2.31302509538916e-07
PRAD	GFM1	MRRF	-1.56810957454655	2.74398347191128e-05
COAD	GFM1	MRPL4	2.77705897514473	2.98023223876954e-07
LUAD	GFM1	MRPL36	-3.29841702586724	3.01758810775006e-09
BRCA	GFM1	TUFM	-1.46208284468293	3.49579812063892e-10
LUSC	GFM1	MRPS5	-7.65956389962319	4.27210217182982e-06
LUSC	GFM1	MRPS11	-2.9004097541444	5.43966600483641e-07
LUAD	GFM1	TUFM	-2.06131065114905	7.73559543739736e-08
KICH	GFM1	TUFM	1.55570480198217	8.80360603332519e-05
BRCA	GFM1	MRPS7	-2.12787460270434	9.33194208595055e-10

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

PPI interactors with GFM1

Mapk13, ADRB2, TRIM63, TRIM55, ECSIT, MRPS7, RPL23A, TUFM, NTRK1, MAGOHB, Dda1, BOLA1, NDUFS3, DUSP13, HSPD1, YBEY, NDUFS7, MRPL12, SUCLA2, EGLN3, MRM1, PDK1, TRMT61B, PHB, USP14, PNPT1, SND1, MTMR7, ANO7, BIRC3, PLEKHA4, ORF8b, TPM3, PARL, E, M, nsp13, nsp4, nsp6, ORF3a, ORF6, ORF7b, IMMP1L, IMMP2L, ECT2, KIF14, ACAD9, AUH, C12orf65, C1QBP, C21orf33, C6orf203, MCUR1, CCDC90B, CS, AARS2, ABCB7, ACAT1, ACOT1, ACOT2, AFG3L2, AK4, ALAS1, ALDH2, ANGEL2, ARG2, ATP5B, ATP5D, ATP5J2-PTCD1, ATP5F1, ATP5H, ATP5J, ATP5O, ATPAF1, BCS1L, C17orf80, C8orf82, CARS2, CDK5RAP1, CLPP, CLPX, COQ5, COX2, COX4I1, DAP3, DBT, DHX30, DLAT, DLST, EARS2, ECHS1, ECI2, ELAC2, ERAL1, ETFA, ETFB, FASTKD1, FASTKD2, FASTKD5, FECH, FLAD1, GADD45GIP1, GATB, GATC, GCDH, GLS, GLUD1, GRPEL1, GRSF1, GTPBP10, GTPBP6, GUF1, HADH, HADHA, HARS2, HINT2, HNRNPAB, HNRNPDL, HNRNPL, HNRNPUL1, HSD17B10, HSDL2, HSPE1, IARS2, IBA57, IDH3B, KIAA0391, LARS2, LETM1, LRPPRC, LYPLAL1, LYRM4, LYRM7, MDH2, ME2, MGME1, MMAB, RNMTL1, MRPL1, MRPL10, MRPL13, MRPL14, MRPL15, MRPL16, MRPL17, MRPL18, MRPL19, MRPL2, MRPL20, MRPL21, MRPL22, MRPL23, MRPL24, MRPL27, MRPL28, MRPL3, MRPL30, MRPL37, MRPL38, MRPL39, MRPL4, MRPL40, MRPL41, MRPL42, MRPL43, MRPL44, MRPL45, MRPL46, MRPL47, MRPL48, MRPL49, MRPL50, MRPL51, MRPL52, MRPL53, MRPL55, MRPL57, ICT1, MRPL9, MRPS10, MRPS11, MRPS14, MRPS16, MRPS17, MRPS18A, MRPS18B, MRPS18C, MRPS2, MRPS21, MRPS22, MRPS23, MRPS24, MRPS25, MRPS26, MRPS27, MRPS28, MRPS30, MRPS31, MRPS33, MRPS34, MRPS35, MRPS36, MRPS5, MRPS6, MRPS9, MTERF3, MTIF2, MTPAP, MTRF1L, NDUFA12, NDUFA2, NDUFA5, NDUFA6, NDUFA7, NDUFA9, NDUFAB1, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFAF5, NDUFS1, NDUFS2, NDUFS4, NDUFS6, NDUFS8, NDUFV1, NDUFV2, NDUFV3, NFS1, NGRN, NIPSNAP1, NME4, NNT, NT5DC2, NUBPL, OAT, OGDH, OXA1L, OXCT1, PAM16, PDE12, PDHA1, PDHB, PDHX, PDK3, PNPLA8, POLDIP2, POLG, POLRMT, PPA2, PPIF, PRDX3, PREPL, PTCD3, PYCR1, PYCR2, QRSL1, WBSCR16, RTN4IP1, ACN9, SDHB, SHMT2, SLC30A9, SLIRP, STOML2, SUPV3L1, TACO1, TFAM, THEM4, THNSL1, TIMM44, TRMT10C, TRUB2, C10orf2, VARS2, VWA8, WARS2, LONP1, METTL17, MRPL11, MRPS12, MRRF, MTG2, MTRF1, PMPCA, PMPCB, SSBP1, TBRG4, TSFM, EXD2, LGALS9, DDX58, TP53, AIFM1, COX8A, TRAP1, HTRA4, PFDN5, UQCRFS1, MALSU1, YARS2,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
GFM1	chr3	158362038	G	T	single_nucleotide_variant	Benign	not_provided
GFM1	chr3	158362339	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
GFM1	chr3	158362351	C	T	single_nucleotide_variant	Likely_benign	Combined_oxidative_phosphorylation_deficiency_1	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
GFM1	chr3	158362358	C	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
GFM1	chr3	158362386	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_1\|not_specified	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
GFM1	chr3	158362391	C	T	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1\|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
GFM1	chr3	158362393	A	G	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1\|not_specified	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
GFM1	chr3	158362399	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
GFM1	chr3	158362413	C	T	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1\|not_specified	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001623\|5_prime_UTR_variant
GFM1	chr3	158362426	G	A	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_1\|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
GFM1	chr3	158362439	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
GFM1	chr3	158362441	T	C	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1\|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
GFM1	chr3	158362444	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
GFM1	chr3	158362462	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
GFM1	chr3	158362472	GC	G	Deletion	Likely_pathogenic	Combined_oxidative_phosphorylation_deficiency_1	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
GFM1	chr3	158362474	C	T	single_nucleotide_variant	Likely_benign	Combined_oxidative_phosphorylation_deficiency_1\|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
GFM1	chr3	158362477	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
GFM1	chr3	158362477	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
GFM1	chr3	158362479	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_1\|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
GFM1	chr3	158362489	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
GFM1	chr3	158362500	A	G	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1\|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
GFM1	chr3	158362505	G	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant,SO:0001623\|5_prime_UTR_variant	SO:0001575\|splice_donor_variant,SO:0001623\|5_prime_UTR_variant
GFM1	chr3	158362509	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
GFM1	chr3	158362511	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
GFM1	chr3	158362514	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
GFM1	chr3	158362526	A	G	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
GFM1	chr3	158362588	C	G	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
GFM1	chr3	158362769	G	GT	Duplication	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158362769	GT	G	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158362769	GTT	G	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158362769	GTTT	G	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158363220	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158363300	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158363416	A	C	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
GFM1	chr3	158363436	C	T	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_1	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
GFM1	chr3	158363438	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
GFM1	chr3	158363463	A	G	single_nucleotide_variant	Benign/Likely_benign	Combined_oxidative_phosphorylation_deficiency_1\|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
GFM1	chr3	158363475	C	T	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_1\|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
GFM1	chr3	158363477	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
GFM1	chr3	158363498	C	CATTG	Duplication	Likely_pathogenic	Combined_oxidative_phosphorylation_deficiency_1\|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
GFM1	chr3	158363504	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
GFM1	chr3	158363528	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
GFM1	chr3	158363529	C	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_1\|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
GFM1	chr3	158363529	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
GFM1	chr3	158363556	G	T	single_nucleotide_variant	Likely_benign	Combined_oxidative_phosphorylation_deficiency_1\|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
GFM1	chr3	158363557	C	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	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
GFM1	chr3	158363571	G	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
GFM1	chr3	158363582	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158363587	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158363757	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158363869	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158363940	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_1\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158363957	A	G	single_nucleotide_variant	Uncertain_significance	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
GFM1	chr3	158363964	AAG	A	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
GFM1	chr3	158363967	A	T	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_1	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
GFM1	chr3	158363984	A	G	single_nucleotide_variant	Uncertain_significance	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
GFM1	chr3	158363990	TC	T	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
GFM1	chr3	158363998	A	G	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
GFM1	chr3	158364008	CAA	C	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
GFM1	chr3	158364013	A	G	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
GFM1	chr3	158364043	C	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
GFM1	chr3	158364043	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
GFM1	chr3	158364063	A	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	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
GFM1	chr3	158364082	T	C	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
GFM1	chr3	158364309	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158364333	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158364355	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158364498	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158364514	A	G	single_nucleotide_variant	Benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158364526	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158364537	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_1\|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
GFM1	chr3	158364559	A	C	single_nucleotide_variant	Likely_pathogenic	Combined_oxidative_phosphorylation_deficiency_1	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
GFM1	chr3	158364564	G	GCCCT	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
GFM1	chr3	158364572	A	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	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
GFM1	chr3	158364573	G	A	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_1	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
GFM1	chr3	158364587	AG	A	Deletion	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
GFM1	chr3	158364590	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
GFM1	chr3	158364607	T	C	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	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
GFM1	chr3	158364619	A	C	single_nucleotide_variant	Likely_pathogenic	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
GFM1	chr3	158364629	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
GFM1	chr3	158364640	A	G	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1\|not_specified\|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
GFM1	chr3	158364649	T	TG	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
GFM1	chr3	158364662	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
GFM1	chr3	158364668	G	A	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
GFM1	chr3	158364683	T	TA	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
GFM1	chr3	158364685	A	G	single_nucleotide_variant	Likely_pathogenic	Combined_oxidative_phosphorylation_deficiency_1\|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
GFM1	chr3	158364700	TG	T	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
GFM1	chr3	158364704	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
GFM1	chr3	158364716	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
GFM1	chr3	158364732	A	C	single_nucleotide_variant	Benign/Likely_benign	Combined_oxidative_phosphorylation_deficiency_1\|not_specified\|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
GFM1	chr3	158364745	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158364745	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158366829	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	not_provided	SO:0001574\|splice_acceptor_variant,SO:0001627\|intron_variant	SO:0001574\|splice_acceptor_variant,SO:0001627\|intron_variant
GFM1	chr3	158366837	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
GFM1	chr3	158366853	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	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
GFM1	chr3	158366854	G	A	single_nucleotide_variant	Likely_benign	not_specified\|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
GFM1	chr3	158366864	A	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	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
GFM1	chr3	158366869	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
GFM1	chr3	158366873	G	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	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
GFM1	chr3	158366879	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_1\|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
GFM1	chr3	158366900	G	A	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1\|not_specified\|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
GFM1	chr3	158366918	C	T	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
GFM1	chr3	158366924	A	G	single_nucleotide_variant	Likely_benign	Combined_oxidative_phosphorylation_deficiency_1\|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
GFM1	chr3	158366944	T	C	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
GFM1	chr3	158366945	G	A	single_nucleotide_variant	Pathogenic	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
GFM1	chr3	158367146	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158367557	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158367837	C	T	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
GFM1	chr3	158367854	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158368130	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158368157	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158369613	AT	A	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158369789	T	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158369798	A	G	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158369845	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158369878	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158369880	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_1\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158369895	C	T	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158369896	G	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158369897	A	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158369900	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158369914	CT	C	Deletion	Pathogenic	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158369930	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158369930	GGCCACTGACCAC	TTAATTAATTAG	Indel	Pathogenic	not_provided	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158369933	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158369939	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158369941	AC	A	Deletion	Likely_pathogenic	Combined_oxidative_phosphorylation_deficiency_1	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158369943	C	T	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Combined_oxidative_phosphorylation_deficiency\|Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158369944	G	A	single_nucleotide_variant	Uncertain_significance	Relative_macrocephaly\|Severe_muscular_hypotonia\|Developmental_regression	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158369971	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158369983	A	G	single_nucleotide_variant	Benign/Likely_benign	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158369987	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158370002	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158370020	G	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158370021	A	AT	Duplication	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158370032	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158370045	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158370143	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158370352	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158370875	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158371101	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158371119	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158371131	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158371139	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158371155	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158371186	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158371210	C	T	single_nucleotide_variant	Likely_pathogenic	Combined_oxidative_phosphorylation_deficiency_1	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158371216	C	G	single_nucleotide_variant			SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158371218	A	C	single_nucleotide_variant	Benign/Likely_benign	Combined_oxidative_phosphorylation_deficiency_1\|not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158371218	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158371245	C	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158371254	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158371254	GGAGT	G	Deletion	Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
GFM1	chr3	158371263	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158371406	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158371546	T	TA	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158372115	A	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158372335	G	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
GFM1	chr3	158372342	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158372369	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_1\|not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158372372	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158372402	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158372411	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158372423	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158372426	T	G	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158372428	G	T	single_nucleotide_variant	Likely_benign	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158372477	C	T	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158372502	T	C	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158376412	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158376717	C	T	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
GFM1	chr3	158376728	A	G	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
GFM1	chr3	158376729	T	C	single_nucleotide_variant	Likely_benign	Combined_oxidative_phosphorylation_deficiency_1\|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
GFM1	chr3	158376737	T	C	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
GFM1	chr3	158376741	C	T	single_nucleotide_variant	Likely_pathogenic	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
GFM1	chr3	158376743	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
GFM1	chr3	158376745	G	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	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
GFM1	chr3	158376770	T	C	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
GFM1	chr3	158376771	GACACCATCTATA	G	Deletion	Pathogenic	Combined_oxidative_phosphorylation_deficiency_1	SO:0001619\|non-coding_transcript_variant,SO:0001822\|inframe_deletion,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001822\|inframe_deletion,SO:0001627\|intron_variant
GFM1	chr3	158376779	C	A	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
GFM1	chr3	158376788	A	G	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
GFM1	chr3	158376806	A	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
GFM1	chr3	158376807	C	T	single_nucleotide_variant	Uncertain_significance	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
GFM1	chr3	158376808	G	A	single_nucleotide_variant	Likely_pathogenic	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
GFM1	chr3	158376815	A	G	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
GFM1	chr3	158376825	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	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
GFM1	chr3	158376836	C	T	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1\|not_specified\|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
GFM1	chr3	158376856	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158376868	G	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158377051	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158377070	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158377171	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158378342	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158378653	GT	G	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158378683	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158378695	T	TGCATTGTTTGGCATTGACTGTGC	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158378697	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158378704	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158378731	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158378734	CACAG	C	Deletion	Pathogenic	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158378740	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158378746	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158378749	C	T	single_nucleotide_variant	Likely_benign	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158378752	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158378836	A	G	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158378847	A	G	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158380150	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158380402	T	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_1\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158380417	G	T	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_1	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158380419	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158380422	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158380436	A	G	single_nucleotide_variant	Likely_benign	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158380437	TC	T	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158380443	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158380455	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158380461	G	A	single_nucleotide_variant	Likely_benign	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158380462	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158380464	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158380470	C	T	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158380694	T	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158383087	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158383117	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158383128	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158383129	G	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency\|Combined_oxidative_phosphorylation_deficiency_1	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158383130	A	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158383145	CA	C	Deletion	Pathogenic	Combined_oxidative_phosphorylation_deficiency_1	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158383151	G	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158383167	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158383174	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158383179	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158383202	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158383209	CAA	C	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158383218	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158383232	T	G	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_1	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158383239	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158383264	G	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
GFM1	chr3	158383269	GA	G	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158383882	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158383882	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158384060	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158384068	A	G	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158384110	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158384120	T	C	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_1	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158384145	C	T	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_1	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158384150	C	T	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158384157	C	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158384167	C	T	single_nucleotide_variant	Benign/Likely_benign	Combined_oxidative_phosphorylation_deficiency_1\|not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158384168	CCT	C	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158384169	CT	C	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158384176	G	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
GFM1	chr3	158384184	G	C	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158399757	A	AT	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158399808	A	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158399811	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158399838	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158399847	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158399865	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158399868	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158399886	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158399904	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158399957	A	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001578\|stop_lost,SO:0001627\|intron_variant	SO:0001578\|stop_lost,SO:0001627\|intron_variant
GFM1	chr3	158402015	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158402219	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158402310	CAG	C	Deletion	Pathogenic	not_provided	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
GFM1	chr3	158402329	G	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158402330	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158402362	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158402366	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158402370	C	T	single_nucleotide_variant	Likely_pathogenic	Combined_oxidative_phosphorylation_deficiency_1	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158402371	G	A	single_nucleotide_variant	Pathogenic	Combined_oxidative_phosphorylation_deficiency_1	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158402378	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158402379	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158402399	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158402400	A	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158402405	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158402429	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158402441	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158402470	C	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158402470	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158402498	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158402588	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158402689	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158407930	CT	C	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158407946	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158407950	A	T	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
GFM1	chr3	158407951	G	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
GFM1	chr3	158407964	C	A	single_nucleotide_variant			SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158407968	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158407978	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158407990	A	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158408032	G	A	single_nucleotide_variant	Benign/Likely_benign	Combined_oxidative_phosphorylation_deficiency_1\|not_specified\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158408050	C	T	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant	SO:0001587\|nonsense,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158408053	C	T	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158408054	G	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158408058	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158408097	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158408101	C	T	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158408103	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158408123	T	G	single_nucleotide_variant	Benign/Likely_benign	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158408908	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158408911	A	G	single_nucleotide_variant	Benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158409090	AAAC	A	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158409093	C	CA	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158409106	C	CT	Duplication	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158409106	CT	C	Deletion	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158409120	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
GFM1	chr3	158409139	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158409143	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158409163	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158409165	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158409166	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158409170	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158409178	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158409190	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158409230	GT	G	Deletion	Uncertain_significance	not_provided	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant	SO:0001589\|frameshift_variant,SO:0001619\|non-coding_transcript_variant
GFM1	chr3	158409232	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant	SO:0001619\|non-coding_transcript_variant,SO:0001819\|synonymous_variant
GFM1	chr3	158409262	C	T	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1\|not_specified\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
GFM1	chr3	158409265	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
GFM1	chr3	158409372	C	T	single_nucleotide_variant	Likely_benign	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
GFM1	chr3	158409375	G	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
GFM1	chr3	158409420	C	A	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
GFM1	chr3	158409482	C	T	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1\|not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
GFM1	chr3	158409501	A	C	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
GFM1	chr3	158409685	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
GFM1	chr3	158409707	TTTG	T	Deletion	Likely_benign	Combined_oxidative_phosphorylation_deficiency	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
GFM1	chr3	158409739	T	TTA	Insertion	Likely_benign	Combined_oxidative_phosphorylation_deficiency	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
GFM1	chr3	158409795	C	T	single_nucleotide_variant	Likely_benign	Combined_oxidative_phosphorylation_deficiency_1	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
GFM1	chr3	158409815	T	C	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
GFM1	chr3	158409828	A	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
GFM1	chr3	158409834	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
GFM1	chr3	158409891	A	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
GFM1	chr3	158409947	T	A	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
GFM1	chr3	158409969	C	T	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
GFM1	chr3	158409987	C	T	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
GFM1	chr3	158410022	G	T	single_nucleotide_variant	Benign	Combined_oxidative_phosphorylation_deficiency_1	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
GFM1	chr3	158410059	T	C	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
GFM1	chr3	158410206	C	T	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
GFM1	chr3	158410260	T	C	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant
GFM1	chr3	158410289	A	G	single_nucleotide_variant	Uncertain_significance	Combined_oxidative_phosphorylation_deficiency_1	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_variant	SO:0001619\|non-coding_transcript_variant,SO:0001624\|3_prime_UTR_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
GFM1	UCEC	chr3	158399904	158399904	C	T	Silent	p.F574	4
GFM1	BRCA	chr3	158370027	158370027	G	T	Missense_Mutation	p.D278Y	3
GFM1	ESCA	chr3	158363966	158363966	G	C	Missense_Mutation	p.D83H	3
GFM1	BRCA	chr3	158376754	158376754	G	A	Missense_Mutation	p.G376E	3
GFM1	ESCA	chr3	158409146	158409146	G	C	Missense_Mutation	p.E716Q	3
GFM1	HNSC	chr3	158402350	158402350	G	C	Missense_Mutation	p.G601A	3
GFM1	SKCM	chr3	158383129	158383129	G	A	Missense_Mutation	p.D462N	2
GFM1	UCEC	chr3	158376800	158376800	G	T	Missense_Mutation	p.K391N	2
GFM1	HNSC	chr3	158363475	158363475	C	T	Nonsense_Mutation	p.R47*	2
GFM1	STAD	chr3	158363985	158363985	T	C	Missense_Mutation	p.M89T	2
GFM1	ESCA	chr3	158363491	158363491	C	G	Nonsense_Mutation	p.S52*	2
GFM1	SKCM	chr3	158371243	158371243	C	A	Missense_Mutation	p.L329I	2
GFM1	UCEC	chr3	158383128	158383128	C	T	Silent	p.N461	2
GFM1	UCEC	chr3	158362443	158362443	C	T	Missense_Mutation	p.A7V	2
GFM1	LUAD	chr3	158366915	158366915	G	T	Nonsense_Mutation	p.E220*	2
GFM1	SKCM	chr3	158376735	158376735	T	C	Missense_Mutation	p.Y370H	2
GFM1	STAD	chr3	158369926	158369926	C	T	Missense_Mutation	p.A244V	2
GFM1	BLCA	chr3	158383171	158383171	G	C	Missense_Mutation	p.E476Q	2
GFM1	UCEC	chr3	158364056	158364056	G	T	Missense_Mutation	p.D113Y	2
GFM1	STAD	chr3	158369951	158369951	G	A	Silent	p.E252E	2
GFM1	UCEC	chr3	158402436	158402436	G	A	Missense_Mutation	p.G630R	2
GFM1	KICH	chr3	158363431	158363431	C	T	Missense_Mutation	p.A32V	2
GFM1	KICH	chr3	158362472	158362473	-	C	Frame_Shift_Ins	p.A17fs	2
GFM1	BLCA	chr3	158384153	158384153	G	T	Nonsense_Mutation	p.E527*	2
GFM1	UCEC	chr3	158364551	158364551	A	C	Silent	p.I129	2
GFM1	LIHC	chr3	158399897	158399897	A	-	Frame_Shift_Del	p.E572fs	2
GFM1	UCEC	chr3	158408050	158408050	C	T	Nonsense_Mutation	p.R670*	2
GFM1	BLCA	chr3	158408110	158408110	G	A	Missense_Mutation	p.D690N	2
GFM1	UCEC	chr3	158364641	158364641	T	A	Missense_Mutation	p.N159K	2
GFM1	STAD	chr3	158402330	158402330	C	T	Silent	p.C594C	2
GFM1	ESCA	chr3	158367801	158367801	C	T	Silent		2
GFM1	UCEC	chr3	158364642	158364642	C	T	Missense_Mutation	p.R160C	2
GFM1	STAD	chr3	158364655	158364655	G	A	Missense_Mutation	p.R164H	2
GFM1	BLCA	chr3	158363446	158363446	C	T	Missense_Mutation	p.S37L	2
GFM1	ESCA	chr3	158409146	158409146	G	C	Missense_Mutation		2
GFM1	UCEC	chr3	158364697	158364697	G	A	Missense_Mutation	p.R178Q	2
GFM1	SKCM	chr3	158363444	158363444	T	C	Silent	p.S36S	2
GFM1	STAD	chr3	158363453	158363453	G	A	Silent		2
GFM1	ESCA	chr3	158363966	158363966	G	C	Missense_Mutation		2
GFM1	UCEC	chr3	158369896	158369896	G	A	Missense_Mutation	p.R234Q	2
GFM1	CHOL	chr3	158364712	158364712	C	T	Missense_Mutation		2
GFM1	HNSC	chr3	158399882	158399882	T	A	Nonsense_Mutation	p.L567*	2
GFM1	SKCM	chr3	158363443	158363443	C	T	Missense_Mutation	p.S36F	2
GFM1	STAD	chr3	158370031	158370031	T	C	Missense_Mutation		2
GFM1	THYM	chr3	158399829	158399829	T	A	Nonsense_Mutation	p.Y549*	2
GFM1	UCEC	chr3	158371188	158371188	A	C	Missense_Mutation	p.L310F	2
GFM1	HNSC	chr3	158363454	158363454	G	A	Missense_Mutation	p.V40M	2
GFM1	SKCM	chr3	158364577	158364577	T	C	Missense_Mutation	p.L138S	2
GFM1	STAD	chr3	158363453	158363453	G	A	Silent	p.G39G	2
GFM1	BLCA	chr3	158366879	158366879	G	C	Missense_Mutation		2
GFM1	UCEC	chr3	158376716	158376716	T	C	Silent	p.G363	2
GFM1	SKCM	chr3	158376776	158376776	C	T	Silent	p.T383T	2
GFM1	STAD	chr3	158370031	158370031	T	C	Missense_Mutation	p.L279S	2
GFM1	COAD	chr3	158364054	158364054	A	C	Missense_Mutation	p.K112T	1
GFM1	LIHC	chr3	158371227	158371227	C	-	Frame_Shift_Del	p.V323fs	1
GFM1	OV	chr3	159847348	159847348	C	T	Missense_Mutation	p.R164C	1
GFM1	TGCT	chr3	158376767	158376767	G	T	Missense_Mutation		1
GFM1	BLCA	chr3	158376764	158376764	G	C	Missense_Mutation		1
GFM1	UCEC	chr3	158409233	158409233	A	-	Frame_Shift_Del	p.K745fs	1
GFM1	ESCA	chr3	158363491	158363491	C	G	Nonsense_Mutation		1
GFM1	LIHC	chr3	158407956	158407956	G	C	Missense_Mutation	p.L638F	1
GFM1	SARC	chr3	158408940	158408940	G	T	Missense_Mutation		1
GFM1	LIHC	chr3	158371144	158371144	T	-	Frame_Shift_Del	p.F296fs	1
GFM1	COAD	chr3	158364616	158364616	T	C	Missense_Mutation	p.V151A	1
GFM1	HNSC	chr3	158363534	158363534	C	T	Silent	p.V66V	1
GFM1	OV	chr3	159855109	159855109	C	G	Missense_Mutation	p.L360V	1
GFM1	TGCT	chr3	158362441	158362441	T	C	Silent		1
GFM1	BLCA	chr3	158364638	158364638	C	A	Silent		1
GFM1	GBM	chr3	158378683	158378683	C	T	Silent	p.A414A	1
GFM1	LIHC	chr3	158363556	158363556	G	C	Missense_Mutation	p.A74P	1
GFM1	SARC	chr3	158367821	158367821	G	T	Silent		1
GFM1	COAD	chr3	158364627	158364627	A	G	Missense_Mutation	p.T155A	1
GFM1	KICH	chr3	158363431	158363431	C	T	Missense_Mutation		1
GFM1	OV	chr3	158369907	158369907	A	G	Missense_Mutation	p.I238V	1
GFM1	TGCT	chr3	158362526	158362526	A	G	Missense_Mutation		1
GFM1	ESCA	chr3	158367801	158367801	C	T	Silent	p.L233	1
GFM1	CESC	chr3	158362509	158362509	C	T	Missense_Mutation		1
GFM1	HNSC	chr3	158366869	158366869	C	A	Silent		1
GFM1	LIHC	chr3	158363466	158363467	-	A	Frame_Shift_Ins	p.K44fs	1
GFM1	SARC	chr3	158399853	158399853	G	T	Missense_Mutation		1
GFM1	LUAD	chr3	158409161	158409161	C	T	Nonsense_Mutation	p.Q721*	1
GFM1	SKCM	chr3	158362460	158362460	G	A	Missense_Mutation	p.G13R	1
GFM1	COAD	chr3	158369971	158369971	A	G	Missense_Mutation	p.N259S	1
GFM1	OV	chr3	158371186	158371186	T	C	Silent	p.L310	1
GFM1	TGCT	chr3	158376767	158376767	G	T	Missense_Mutation	p.K380N	1
GFM1	CESC	chr3	158399891	158399891	C	T	Missense_Mutation		1
GFM1	HNSC	chr3	158376825	158376825	C	A	Missense_Mutation		1
GFM1	SARC	chr3	158367837	158367837	C	T	Missense_Mutation		1
GFM1	LUSC	chr3	158363992	158363992	C	A	Silent	p.S91S	1
GFM1	SKCM	chr3	158363984	158363984	A	G	Missense_Mutation	p.M89V	1
GFM1	STAD	chr3	158364022	158364023	TA	-	Frame_Shift_Del	p.101_101del	1
GFM1	COAD	chr3	158376717	158376717	C	T	Nonsense_Mutation	p.R364X	1
GFM1	KIRP	chr3	158362456	158362456	T	G	Silent	p.A11A	1
GFM1	PAAD	chr3	158364658	158364658	A	G	Missense_Mutation		1
GFM1	THCA	chr3	158384175	158384175	C	A	Missense_Mutation		1
GFM1	ESCA	chr3	158408049	158408049	C	T	Silent	p.N669	1
GFM1	CESC	chr3	158408942	158408942	T	T	Missense_Mutation		1
GFM1	HNSC	chr3	158363454	158363454	G	A	Missense_Mutation		1
GFM1	LIHC	chr3	158364612	158364612	G	-	Frame_Shift_Del	p.G150fs	1
GFM1	SARC	chr3	158364625	158364625	A	G	Missense_Mutation		1
GFM1	LUSC	chr3	158366843	158366843	C	A	Missense_Mutation	p.H196N	1
GFM1	SKCM	chr3	158372359	158372359	T	G	Missense_Mutation	p.I341S	1
GFM1	COAD	chr3	158399908	158399908	T	C	Missense_Mutation	p.S576P	1
GFM1	LGG	chr3	158383135	158383135	G	A	Missense_Mutation	p.E464K	1
GFM1	PAAD	chr3	158399842	158399842	G	T	Missense_Mutation		1
GFM1	THYM	chr3	158363452	158363452	G	T	Missense_Mutation		1
GFM1	BLCA	chr3	158383145	158383145	C	A	Nonsense_Mutation	p.S467*	1
GFM1	CESC	chr3	158399891	158399891	C	T	Missense_Mutation	p.S570L	1
GFM1	HNSC	chr3	158402350	158402350	G	C	Missense_Mutation		1
GFM1	LIHC	chr3	158399800	158399800	A	-	Frame_Shift_Del	p.K541fs	1
GFM1	SARC	chr3	158408008	158408008	G	T	Missense_Mutation	p.A656S	1
GFM1	LUSC	chr3	158408930	158408930	C	T	Silent	p.V691V	1
GFM1	SKCM	chr3	158384175	158384175	C	A	Splice_Site	p.P534_splice	1
GFM1	BLCA	chr3	158383171	158383171	G	C	Missense_Mutation		1
GFM1	COAD	chr3	158407984	158407984	C	T	Missense_Mutation	p.P648S	1
GFM1	LGG	chr3	158366903	158366903	G	T	Missense_Mutation	p.D216Y	1
GFM1	PAAD	chr3	158364658	158364658	A	G	Missense_Mutation	p.Y165C	1
GFM1	THYM	chr3	158399829	158399829	T	A	Nonsense_Mutation	p.Y549X	1
GFM1	CHOL	chr3	158362500	158362511	AGCAGGTACCGG	-	Splice_Site		1
GFM1	HNSC	chr3	158363534	158363534	C	T	Silent		1
GFM1	LIHC	chr3	158402316	158402316	T	-	Frame_Shift_Del	p.F590fs	1
GFM1	LUSC	chr3	158371155	158371155	C	A	Missense_Mutation	p.S299R	1
GFM1	STAD	chr3	158364621	158364621	T	C	Missense_Mutation	p.C153R	1
GFM1	BLCA	chr3	158408110	158408110	G	A	Missense_Mutation		1
GFM1	COAD	chr3	158370019	158370019	C	T	Missense_Mutation	p.S275L	1
GFM1	BLCA	chr3	158366879	158366879	G	C	Missense_Mutation	p.E208Q	1
GFM1	LIHC	chr3	158363428	158363428	A	G	Missense_Mutation		1
GFM1	PAAD	chr3	158399842	158399842	G	T	Missense_Mutation	p.G554C	1
GFM1	THYM	chr3	158363452	158363452	G	T	Missense_Mutation	p.G39V	1
GFM1	LIHC	chr3	158408059	158408059	G	-	Frame_Shift_Del	p.G673fs	1
GFM1	LUSC	chr3	158409239	158409239	G	T	Nonsense_Mutation	p.G747*	1
GFM1	STAD	chr3	158383230	158383230	A	G	Silent	p.G495G	1
GFM1	BLCA	chr3	158363446	158363446	C	T	Missense_Mutation		1
GFM1	COAD	chr3	158407978	158407978	C	A	Missense_Mutation	p.L646I	1
GFM1	BLCA	chr3	158376764	158376764	G	C	Missense_Mutation	p.K379N	1
GFM1	ESCA	chr3	158408049	158408049	C	T	Silent	p.N669N	1
GFM1	LIHC	chr3	158364696	158364696	C	A	Silent		1
GFM1	PCPG	chr3	158362441	158362441	T	C	Silent	p.A6A	1
GFM1	CHOL	chr3	158362500	158362511	AGCAGGTACCGG	-	In_Frame_Del	p.26_27del	1
GFM1	LIHC	chr3	158409169	158409169	T	-	Frame_Shift_Del	p.C723fs	1
GFM1	MESO	chr3	158407958	158407958	C	A	Missense_Mutation	p.A639E	1
GFM1	STAD	chr3	158364022	158364023	TA	-	Frame_Shift_Del	p.T101fs	1
GFM1	DLBC	chr3	158372389	158372389	A	C	Missense_Mutation	p.H351P	1
GFM1	BLCA	chr3	158364638	158364638	C	A	Silent	p.V158V	1
GFM1	ESCA	chr3	158363491	158363491	C	G	Nonsense_Mutation	p.S52X	1
GFM1	LIHC	chr3	158376761	158376761	A	T	Silent		1
GFM1	PRAD	chr3	158408054	158408054	G	A	Missense_Mutation	p.R671H	1
GFM1	THYM	chr3	158399829	158399829	T	A	Nonsense_Mutation		1
GFM1	CHOL	chr3	158362500	158362511	AGCAGGTACCGG	-	Splice_Site	p.26_splice	1
GFM1	LIHC	chr3	158409241	158409241	A	-	Frame_Shift_Del	p.G747fs	1
GFM1	OV	chr3	158376728	158376728	A	G	Silent	p.Q367Q	1
GFM1	STAD	chr3	158383242	158383242	A	G	Silent		1
GFM1	BLCA	chr3	158376741	158376741	C	A	Missense_Mutation		1
GFM1	DLBC	chr3	158408032	158408032	G	A	Missense_Mutation	p.V664I	1
GFM1	BLCA	chr3	158369974	158369974	C	G	Nonsense_Mutation	p.S260*	1
GFM1	ESCA	chr3	158367801	158367801	C	T	Silent	p.L233L	1
GFM1	LIHC	chr3	158364696	158364696	C	A	Silent	p.R178R	1
GFM1	READ	chr3	158378752	158378752	C	T	Silent	p.S437S	1
GFM1	UCEC	chr3	158363522	158363522	A	G	Silent	p.L62L	1

Copy number variation (CNV) of GFM1
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across GFM1
* 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
66821	N/A	BM193741	DOCK10	chr2	225674698	-	GFM1	chr3	158384203	+
66821	N/A	BE869773	GFM1	chr3	158409840	-	GFM1	chr3	158409879	+
62774	LUSC	TCGA-56-A4BX-01A	GFM1	chr3	158402457	+	KLHL6	chr3	183226296	-
100684	KIRC	TCGA-BP-4352-01A	GFM1	chr3	158399946	+	LRBA	chr4	151770150	-
78462	BRCA	TCGA-C8-A12Q-01A	GFM1	chr3	158384174	+	MLF1	chr3	158310222	+
78462	BRCA	TCGA-C8-A12Q-01A	GFM1	chr3	158384175	+	MLF1	chr3	158310223	+
101208	N/A	FN081906	GFM1	chr3	158393674	+	RALYL	chr8	85737382	-
100465	N/A	DA528491	GFM1	chr3	158362483	+	SMARCA2	chr9	2086981	+
91376	BLCA	TCGA-G2-AA3F-01A	GFM1	chr3	158399946	+	TMCC1	chr3	129390107	-
66821	BRCA	TCGA-A8-A07U	MFSD1	chr3	158545126	+	GFM1	chr3	158399783	+
66821	BRCA	TCGA-A8-A07U-01A	MFSD1	chr3	158545126	+	GFM1	chr3	158399784	+
66823	N/A	DN913634	PODXL2	chr3	127383197	+	GFM1	chr3	158384205	+

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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
TGCT	GFM1	0.00243462505084888	0.068
HNSC	GFM1	0.00515692570023762	0.14
LAML	GFM1	0.0094448663149053	0.25
LUAD	GFM1	0.0115525380705736	0.29
LUSC	GFM1	0.0359446587694349	0.86
READ	GFM1	0.0481361016286212	1

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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
LAML	GFM1	0.0309750496281376	0.96
UCEC	GFM1	0.0231476772646757	0.74
ESCA	GFM1	0.0200044808749601	0.66
THYM	GFM1	0.0308376231895592	0.96
SARC	GFM1	0.0493434170259612	1

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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
C1836797	Combined Oxidative Phosphorylation Deficiency 1	7	CTD_human;GENOMICS_ENGLAND;ORPHANET;UNIPROT
C0023264	Leigh Disease	6	CLINGEN
C1838951	LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX I DEFICIENCY	6	CLINGEN
C1850597	Leigh Syndrome Due To Mitochondrial Complex II Deficiency	6	CLINGEN
C1850598	Leigh Syndrome due to Mitochondrial Complex III Deficiency	6	CLINGEN
C1850599	Leigh Syndrome due to Mitochondrial Complex IV Deficiency	6	CLINGEN
C1850600	Leigh Syndrome due to Mitochondrial Complex V Deficiency	6	CLINGEN
C2931891	Necrotizing encephalopathy, infantile subacute, of Leigh	6	CLINGEN