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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: MTOR (NCBI Gene ID:2475)

Gene Summary

Gene Summary

Gene Information	Gene Name: MTOR
	Gene ID: 2475
	Gene Symbol	MTOR
	Gene ID	2475
	Gene Name	mechanistic target of rapamycin kinase
	Synonyms	FRAP\|FRAP1\|FRAP2\|RAFT1\|RAPT1\|SKS
	Cytomap	1p36.22
	Type of Gene	protein-coding
	Description	serine/threonine-protein kinase mTORFK506 binding protein 12-rapamycin associated protein 2FK506-binding protein 12-rapamycin complex-associated protein 1FKBP-rapamycin associated proteinFKBP12-rapamycin complex-associated protein 1mammalian target o
	Modification date	20200329
	UniProtAcc	P42345

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

GO ID	GO term
GO:0006417	Regulation of translation
GO:0045727	Positive regulation of translation
GO:0002181	Cytoplasmic translation
GO:0006413	Translational initiation
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	MTOR	GO:0001558	regulation of cell growth	18762023
Hgene	MTOR	GO:0001934	positive regulation of protein phosphorylation	20233713
Hgene	MTOR	GO:0006468	protein phosphorylation	12150926\|15467718\|18925875
Hgene	MTOR	GO:0009267	cellular response to starvation	28223137
Hgene	MTOR	GO:0010507	negative regulation of autophagy	30704899
Hgene	MTOR	GO:0016242	negative regulation of macroautophagy	25327288
Hgene	MTOR	GO:0016310	phosphorylation	11853878\|25327288
Hgene	MTOR	GO:0031667	response to nutrient levels	29750193
Hgene	MTOR	GO:0034198	cellular response to amino acid starvation	22424946
Hgene	MTOR	GO:0038202	TORC1 signaling	28223137
Hgene	MTOR	GO:0043200	response to amino acid	18497260
Hgene	MTOR	GO:0045727	positive regulation of translation	18762023
Hgene	MTOR	GO:0046777	protein autophosphorylation	15467718
Hgene	MTOR	GO:0071230	cellular response to amino acid stimulus	22424946
Hgene	MTOR	GO:0071233	cellular response to leucine	22424946
Hgene	MTOR	GO:1990253	cellular response to leucine starvation	22424946

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
MTOR	>1119.25

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Translation Studies in PubMed

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

Gene	Title	PMID
MTOR	mTOR-dependent translation amplifies microglia priming in aging mice	33108356

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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
ENST00000361445	11177060	11177143	Frame-shift
ENST00000361445	11186678	11186853	Frame-shift
ENST00000361445	11187680	11187863	In-frame
ENST00000361445	11193136	11193254	Frame-shift
ENST00000361445	11194407	11194523	Frame-shift
ENST00000361445	11205024	11205102	In-frame
ENST00000361445	11206732	11206848	Frame-shift
ENST00000361445	11210182	11210283	Frame-shift
ENST00000361445	11227498	11227574	Frame-shift
ENST00000361445	11259314	11259460	Frame-shift
ENST00000361445	11276204	11276291	In-frame
ENST00000361445	11291356	11291491	In-frame
ENST00000361445	11298458	11298674	In-frame
ENST00000361445	11301609	11301738	In-frame
ENST00000361445	11307681	11307790	Frame-shift
ENST00000361445	11313895	11314030	In-frame
ENST00000361445	11316989	11317222	Frame-shift

Exon skipping position in the amino acid sequence.

ENST	Exon skip start (DNA)	Exon Skip end (DNA)	Len(transcript seq)	Exon skip start (mRNA)	Exon Skip end (mRNA)	Len(amino acid seq)	Exon skip start (AA)	Exon Skip end (AA)
ENST00000361445	11187680	11187863	8694	6111	6293	2549	2011	2072
ENST00000361445	11205024	11205102	8694	4764	4841	2549	1562	1588
ENST00000361445	11276204	11276291	8694	3108	3194	2549	1010	1039
ENST00000361445	11291356	11291491	8694	2592	2726	2549	838	883
ENST00000361445	11298458	11298674	8694	1864	2079	2549	595	667
ENST00000361445	11301609	11301738	8694	1490	1618	2549	471	513
ENST00000361445	11313895	11314030	8694	783	917	2549	235	280

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.
P42345	1562	1588	1	2549	Chain	ID=PRO_0000088808;Note=Serine/threonine-protein kinase mTOR
P42345	2011	2072	1	2549	Chain	ID=PRO_0000088808;Note=Serine/threonine-protein kinase mTOR
P42345	838	883	1	2549	Chain	ID=PRO_0000088808;Note=Serine/threonine-protein kinase mTOR
P42345	235	280	1	2549	Chain	ID=PRO_0000088808;Note=Serine/threonine-protein kinase mTOR
P42345	471	513	1	2549	Chain	ID=PRO_0000088808;Note=Serine/threonine-protein kinase mTOR
P42345	595	667	1	2549	Chain	ID=PRO_0000088808;Note=Serine/threonine-protein kinase mTOR
P42345	1010	1039	1	2549	Chain	ID=PRO_0000088808;Note=Serine/threonine-protein kinase mTOR
P42345	235	280	222	276	Repeat	Note=HEAT 6
P42345	235	280	277	313	Repeat	Note=HEAT 7
P42345	471	513	446	494	Repeat	Note=HEAT 11
P42345	471	513	495	529	Repeat	Note=HEAT 12
P42345	595	667	564	596	Repeat	Note=HEAT 14
P42345	595	667	597	636	Repeat	Note=HEAT 15
P42345	595	667	637	683	Repeat	Note=HEAT 16
P42345	838	883	814	853	Repeat	Note=HEAT 20
P42345	838	883	857	893	Repeat	Note=HEAT 21
P42345	1010	1039	989	1027	Repeat	Note=HEAT 24
P42345	1010	1039	1029	1068	Repeat	Note=HEAT 25
P42345	1562	1588	1382	1982	Domain	Note=FAT;Ontology_term=ECO:0000255;evidence=ECO:0000255\|PROSITE-ProRule:PRU00534
P42345	1562	1588	1542	1574	Repeat	Note=TPR 7
P42345	1562	1588	1575	1614	Repeat	Note=TPR 8
P42345	235	280	1	651	Region	Note=Interaction with NBN;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23762398;Dbxref=PMID:23762398
P42345	471	513	1	651	Region	Note=Interaction with NBN;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23762398;Dbxref=PMID:23762398
P42345	595	667	1	651	Region	Note=Interaction with NBN;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:23762398;Dbxref=PMID:23762398
P42345	2011	2072	2012	2144	Region	Note=Sufficient for interaction with the FKBP1A/rapamycin complex;Ontology_term=ECO:0000250;evidence=ECO:0000250
P42345	595	667	624	624	Natural variant	ID=VAR_078824;Note=In FCORD2%3B somatic mutation%3B unknown pathological significance. R->H;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:25799227;Dbxref=dbSNP:rs913197212,PMID:25799227
P42345	2011	2072	2011	2011	Natural variant	ID=VAR_041542;Note=In an ovarian mucinous carcinoma sample%3B somatic mutation. M->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:17344846;Dbxref=PMID:17344846
P42345	471	513	482	484	Sequence conflict	Note=VFT->FFN;Ontology_term=ECO:0000305;evidence=ECO:0000305
P42345	471	513	489	489	Sequence conflict	Note=L->V;Ontology_term=ECO:0000305;evidence=ECO:0000305
P42345	471	513	513	513	Sequence conflict	Note=L->I;Ontology_term=ECO:0000305;evidence=ECO:0000305
P42345	838	883	857	857	Sequence conflict	Note=P->L;Ontology_term=ECO:0000305;evidence=ECO:0000305
P42345	1562	1588	1557	1577	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5WBY
P42345	1562	1588	1584	1586	Turn	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5WBY
P42345	1562	1588	1587	1605	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5WBY
P42345	2011	2072	1985	2020	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:5WBY
P42345	2011	2072	2025	2039	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4DRI
P42345	2011	2072	2044	2058	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4DRI
P42345	2011	2072	2065	2091	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4DRI

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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
PRAD	MTOR	2.45767376269894	8.16442831201447e-07

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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
ESCA	MTOR	3	2	0.0196992360286623	0.645057066869301	0.57100612244898	-0.00179856277109681	0.0167342639765714

Translation factor expression regulation through copy number variation of Translation factor

Cancer type	Gene	Coefficient	Pvalue
ESCA	MTOR	0.06014807	0.031079015
BRCA	MTOR	-0.053416997	0.045712098

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Associated Genes

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

Cancer type	Gene group	Translation factor	Correlated gene	Coefficient	Pvalue
DLBC	Cell metabolism gene	MTOR	MED12	0.800594562	8.48E-12
DLBC	Cell metabolism gene	MTOR	PIKFYVE	0.802336516	7.07E-12
DLBC	Cell metabolism gene	MTOR	CLOCK	0.806502104	4.55E-12
DLBC	Cell metabolism gene	MTOR	POLR2A	0.814072846	1.98E-12
DLBC	Cell metabolism gene	MTOR	AP3M1	0.820621772	9.37E-13
DLBC	Cell metabolism gene	MTOR	MED13L	0.832347731	2.26E-13
DLBC	Cell metabolism gene	MTOR	CREBBP	0.834281143	1.77E-13
DLBC	Cell metabolism gene	MTOR	PIK3C2A	0.835508324	1.51E-13
DLBC	Cell metabolism gene	MTOR	ENTPD5	0.838535324	1.02E-13
DLBC	Cell metabolism gene	MTOR	POLR3A	0.84105718	7.32E-14
DLBC	Cell metabolism gene	MTOR	MED1	0.862438672	3.36E-15
DLBC	Cell metabolism gene	MTOR	EP300	0.863857638	2.69E-15
DLBC	Cell metabolism gene	MTOR	NCOA6	0.875094336	4.21E-16
DLBC	Cell metabolism gene	MTOR	SMG1	0.884332816	7.97E-17
DLBC	CGC	MTOR	MED12	0.800594562	8.48E-12
DLBC	CGC	MTOR	BARD1	0.801388605	7.81E-12
DLBC	CGC	MTOR	PPM1D	0.803523175	6.24E-12
DLBC	CGC	MTOR	BRD4	0.803893529	6.00E-12
DLBC	CGC	MTOR	SPEN	0.81176384	2.56E-12
DLBC	CGC	MTOR	ASXL2	0.813504967	2.11E-12
DLBC	CGC	MTOR	CBL	0.814542432	1.88E-12
DLBC	CGC	MTOR	LATS1	0.827526632	4.11E-13
DLBC	CGC	MTOR	CREBBP	0.834281143	1.77E-13
DLBC	CGC	MTOR	TRIM33	0.840593011	7.79E-14
DLBC	CGC	MTOR	ARID2	0.841446837	6.95E-14
DLBC	CGC	MTOR	PTPN11	0.842406006	6.11E-14
DLBC	CGC	MTOR	NFATC2	0.843560732	5.23E-14
DLBC	CGC	MTOR	TRRAP	0.848639733	2.59E-14
DLBC	CGC	MTOR	NSD1	0.85290316	1.41E-14
DLBC	CGC	MTOR	BIRC6	0.858961677	5.74E-15
DLBC	CGC	MTOR	EP300	0.863857638	2.69E-15
DLBC	CGC	MTOR	ARID1A	0.875923467	3.65E-16
DLBC	Epifactor	MTOR	TAF1	0.800490918	8.57E-12
DLBC	Epifactor	MTOR	BARD1	0.801388605	7.81E-12
DLBC	Epifactor	MTOR	ATXN7	0.802208225	7.17E-12
DLBC	Epifactor	MTOR	BRD4	0.803893529	6.00E-12
DLBC	Epifactor	MTOR	ASH1L	0.804061769	5.90E-12
DLBC	Epifactor	MTOR	GLYR1	0.806419815	4.59E-12
DLBC	Epifactor	MTOR	CLOCK	0.806502104	4.55E-12
DLBC	Epifactor	MTOR	INO80	0.806711079	4.45E-12
DLBC	Epifactor	MTOR	SETD5	0.809250339	3.38E-12
DLBC	Epifactor	MTOR	SPEN	0.81176384	2.56E-12
DLBC	Epifactor	MTOR	ASXL2	0.813504967	2.11E-12
DLBC	Epifactor	MTOR	PRDM4	0.818577662	1.19E-12
DLBC	Epifactor	MTOR	STK4	0.818683211	1.17E-12
DLBC	Epifactor	MTOR	HP1BP3	0.821389464	8.56E-13
DLBC	Epifactor	MTOR	PHF20	0.828467644	3.66E-13
DLBC	Epifactor	MTOR	SP1	0.828659652	3.58E-13
DLBC	Epifactor	MTOR	CHD1	0.830484309	2.86E-13
DLBC	Epifactor	MTOR	CREBBP	0.834281143	1.77E-13
DLBC	Epifactor	MTOR	ADNP	0.835450217	1.53E-13
DLBC	Epifactor	MTOR	CHD8	0.838314859	1.05E-13
DLBC	Epifactor	MTOR	TRIM33	0.840593011	7.79E-14
DLBC	Epifactor	MTOR	ARID2	0.841446837	6.95E-14
DLBC	Epifactor	MTOR	PHF12	0.841637051	6.78E-14
DLBC	Epifactor	MTOR	C11orf30	0.848251033	2.74E-14
DLBC	Epifactor	MTOR	TRRAP	0.848639733	2.59E-14
DLBC	Epifactor	MTOR	IKBKAP	0.851232795	1.79E-14
DLBC	Epifactor	MTOR	NSD1	0.85290316	1.41E-14
DLBC	Epifactor	MTOR	EP300	0.863857638	2.69E-15
DLBC	Epifactor	MTOR	NCOA6	0.875094336	4.21E-16
DLBC	Epifactor	MTOR	ARID1A	0.875923467	3.65E-16
DLBC	IUPHAR	MTOR	TAF1	0.800490918	8.57E-12
DLBC	IUPHAR	MTOR	HIPK1	0.800571244	8.50E-12
DLBC	IUPHAR	MTOR	PIKFYVE	0.802336516	7.07E-12
DLBC	IUPHAR	MTOR	PPM1D	0.803523175	6.24E-12
DLBC	IUPHAR	MTOR	BRD4	0.803893529	6.00E-12
DLBC	IUPHAR	MTOR	ASH1L	0.804061769	5.90E-12
DLBC	IUPHAR	MTOR	HIPK3	0.805332089	5.15E-12
DLBC	IUPHAR	MTOR	TRPM7	0.805932156	4.83E-12
DLBC	IUPHAR	MTOR	CLOCK	0.806502104	4.55E-12
DLBC	IUPHAR	MTOR	DPP8	0.810354766	2.99E-12
DLBC	IUPHAR	MTOR	WNK1	0.811988809	2.50E-12
DLBC	IUPHAR	MTOR	EPB41	0.813174825	2.19E-12
DLBC	IUPHAR	MTOR	GPR75	0.816839387	1.45E-12
DLBC	IUPHAR	MTOR	ATP2A2	0.817347857	1.37E-12
DLBC	IUPHAR	MTOR	STK4	0.818683211	1.17E-12
DLBC	IUPHAR	MTOR	STK35	0.81927579	1.10E-12
DLBC	IUPHAR	MTOR	LATS1	0.827526632	4.11E-13
DLBC	IUPHAR	MTOR	CREBBP	0.834281143	1.77E-13
DLBC	IUPHAR	MTOR	PIK3C2A	0.835508324	1.51E-13
DLBC	IUPHAR	MTOR	TRIM33	0.840593011	7.79E-14
DLBC	IUPHAR	MTOR	TRRAP	0.848639733	2.59E-14
DLBC	IUPHAR	MTOR	NSD1	0.85290316	1.41E-14
DLBC	IUPHAR	MTOR	BIRC6	0.858961677	5.74E-15
DLBC	IUPHAR	MTOR	EP300	0.863857638	2.69E-15
DLBC	IUPHAR	MTOR	PDPK1	0.863964858	2.65E-15
DLBC	IUPHAR	MTOR	MFN2	0.876363142	3.38E-16
DLBC	IUPHAR	MTOR	SMG1	0.884332816	7.97E-17
DLBC	Kinase	MTOR	TAF1	0.800490918	8.57E-12
DLBC	Kinase	MTOR	HIPK1	0.800571244	8.50E-12
DLBC	Kinase	MTOR	BRD4	0.803893529	6.00E-12
DLBC	Kinase	MTOR	HIPK3	0.805332089	5.15E-12
DLBC	Kinase	MTOR	TRPM7	0.805932156	4.83E-12
DLBC	Kinase	MTOR	WNK1	0.811988809	2.50E-12
DLBC	Kinase	MTOR	STK4	0.818683211	1.17E-12
DLBC	Kinase	MTOR	STK35	0.81927579	1.10E-12
DLBC	Kinase	MTOR	LATS1	0.827526632	4.11E-13
DLBC	Kinase	MTOR	TRIM33	0.840593011	7.79E-14
DLBC	Kinase	MTOR	TRRAP	0.848639733	2.59E-14
DLBC	Kinase	MTOR	PDPK1	0.863964858	2.65E-15
DLBC	Kinase	MTOR	SMG1	0.884332816	7.97E-17
DLBC	TF	MTOR	ZNF587	0.800996515	8.13E-12
DLBC	TF	MTOR	ASH1L	0.804061769	5.90E-12
DLBC	TF	MTOR	ETV3	0.80556851	5.02E-12
DLBC	TF	MTOR	ZNF131	0.805976609	4.81E-12
DLBC	TF	MTOR	GLYR1	0.806419815	4.59E-12
DLBC	TF	MTOR	CLOCK	0.806502104	4.55E-12
DLBC	TF	MTOR	SP2	0.807839948	3.94E-12
DLBC	TF	MTOR	ZNF644	0.810117809	3.07E-12
DLBC	TF	MTOR	ZNF827	0.810759269	2.86E-12
DLBC	TF	MTOR	SPEN	0.81176384	2.56E-12
DLBC	TF	MTOR	ZNF407	0.81186914	2.53E-12
DLBC	TF	MTOR	SON	0.812637584	2.33E-12
DLBC	TF	MTOR	PRDM4	0.818577662	1.19E-12
DLBC	TF	MTOR	ZNF426	0.82024581	9.79E-13
DLBC	TF	MTOR	KLF13	0.825663798	5.15E-13
DLBC	TF	MTOR	ZNF37A	0.826276391	4.78E-13
DLBC	TF	MTOR	PHF20	0.828467644	3.66E-13
DLBC	TF	MTOR	SP1	0.828659652	3.58E-13
DLBC	TF	MTOR	ZBTB39	0.829230983	3.33E-13
DLBC	TF	MTOR	ZNF236	0.831351258	2.56E-13
DLBC	TF	MTOR	ZKSCAN1	0.835127673	1.59E-13
DLBC	TF	MTOR	ADNP	0.835450217	1.53E-13
DLBC	TF	MTOR	TOPORS	0.835461549	1.52E-13
DLBC	TF	MTOR	FOXJ3	0.837256188	1.21E-13
DLBC	TF	MTOR	NFXL1	0.839118236	9.47E-14
DLBC	TF	MTOR	ARID2	0.841446837	6.95E-14
DLBC	TF	MTOR	ZFP91	0.841882667	6.56E-14
DLBC	TF	MTOR	NFATC2	0.843560732	5.23E-14
DLBC	TF	MTOR	ZBTB11	0.846484103	3.50E-14
DLBC	TF	MTOR	ZNF142	0.850758945	1.92E-14
DLBC	TF	MTOR	ATF7	0.857835868	6.81E-15
DLBC	TSG	MTOR	BARD1	0.801388605	7.81E-12
DLBC	TSG	MTOR	ANAPC1	0.802466455	6.98E-12
DLBC	TSG	MTOR	EPB41	0.813174825	2.19E-12
DLBC	TSG	MTOR	CBL	0.814542432	1.88E-12
DLBC	TSG	MTOR	PRDM4	0.818577662	1.19E-12
DLBC	TSG	MTOR	USP33	0.827067624	4.35E-13
DLBC	TSG	MTOR	LATS1	0.827526632	4.11E-13
DLBC	TSG	MTOR	CHD1	0.830484309	2.86E-13
DLBC	TSG	MTOR	CREBBP	0.834281143	1.77E-13
DLBC	TSG	MTOR	TOPORS	0.835461549	1.52E-13
DLBC	TSG	MTOR	DIDO1	0.840651377	7.73E-14
DLBC	TSG	MTOR	ARID2	0.841446837	6.95E-14
DLBC	TSG	MTOR	PTPN11	0.842406006	6.11E-14
DLBC	TSG	MTOR	NFATC2	0.843560732	5.23E-14
DLBC	TSG	MTOR	RBL1	0.866691529	1.71E-15
DLBC	TSG	MTOR	UBE4B	0.869223397	1.13E-15
DLBC	TSG	MTOR	ARID1A	0.875923467	3.65E-16
GBM	CGC	MTOR	SPEN	0.820372261	4.04E-43
GBM	Epifactor	MTOR	SPEN	0.820372261	4.04E-43
GBM	IUPHAR	MTOR	MFN2	0.815838801	2.73E-42
GBM	TF	MTOR	SPEN	0.820372261	4.04E-43
LGG	TSG	MTOR	DFFA	0.800929519	1.06E-119
LGG	TSG	MTOR	USP33	0.801097836	8.69E-120
PCPG	IUPHAR	MTOR	MFN2	0.850024126	2.15E-53
PCPG	TSG	MTOR	UBE4B	0.864073179	4.78E-57
READ	CGC	MTOR	ARID1A	0.84575224	7.36E-30
READ	Epifactor	MTOR	ARID1A	0.84575224	7.36E-30
READ	TSG	MTOR	KIF1B	0.804621914	4.68E-25
READ	TSG	MTOR	UBE4B	0.815014335	3.73E-26
READ	TSG	MTOR	ARID1A	0.84575224	7.36E-30
TGCT	CGC	MTOR	MSH2	0.816799439	1.28E-38
TGCT	TF	MTOR	ZNF675	0.80998559	1.60E-37
TGCT	TSG	MTOR	PTPN12	0.80302239	1.92E-36
TGCT	TSG	MTOR	MSH2	0.816799439	1.28E-38
TGCT	TSG	MTOR	UBIAD1	0.871866585	1.32E-49
THCA	Cell metabolism gene	MTOR	PRKAR2A	0.801055902	3.83E-129
THCA	CGC	MTOR	ASXL2	0.800884546	4.77E-129
THCA	CGC	MTOR	STRN	0.801360091	2.60E-129
THCA	Epifactor	MTOR	ASXL2	0.800884546	4.77E-129
THCA	IUPHAR	MTOR	PRKAR2A	0.801055902	3.83E-129
THCA	IUPHAR	MTOR	TAOK1	0.805193408	1.84E-131
THCA	IUPHAR	MTOR	CLCN3	0.810604162	1.40E-134
THCA	Kinase	MTOR	TAOK1	0.805193408	1.84E-131
UVM	Cell metabolism gene	MTOR	NADK	0.820004559	1.37E-20

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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
PRAD	MTOR	RPS6KB1	1.25047501981198	0.000199084406212897
LIHC	MTOR	MAPKAP1	-1.89093131792876	0.000728433344697673
LUAD	MTOR	ULK1	-1.29649094540005	0.000801035626653276
KIRP	MTOR	RRAGC	2.06169733162019	0.000906126573681831
BRCA	MTOR	RHEB	-1.34423616302394	0.00103883851257192
COAD	MTOR	RPS6KB1	-1.1133069567678	0.00144392251968384
PRAD	MTOR	EIF4EBP1	-1.52730406636296	0.00170492480464144
ESCA	MTOR	TSC2	-3.24919207627469	0.001953125
CHOL	MTOR	RPTOR	-2.34317187916664	0.00390625
ESCA	MTOR	ULK1	-1.45770808595795	0.0048828125
LUSC	MTOR	TSC2	1.12504498503233	0.00646935999315137
BRCA	MTOR	ULK1	-1.31054463530822	0.0140627027489036
STAD	MTOR	TSC2	-1.66130396745917	0.018431528005749
HNSC	MTOR	EIF4EBP1	1.16888194926653	0.0196738412400919
KICH	MTOR	RHEB	1.83191315229171	0.0236499309539795
HNSC	MTOR	RPS6KB1	-1.27996809705029	0.0301271170746986
PRAD	MTOR	MAPKAP1	-3.00104855526642	0.0312569736289674
COAD	MTOR	MAPKAP1	-4.40640658979864	0.0434664487838746
KIRP	MTOR	RPS6KB1	-1.46465474284348	2.00420618057251e-06
KIRP	MTOR	EIF4EBP1	-2.1223854491688	2.98023223876953e-07
LIHC	MTOR	TSC2	-2.06124259504281	3.59406613648813e-06
PRAD	MTOR	RHEB	1.54870835586921	4.59461327401057e-05
KICH	MTOR	TSC2	-5.67340295495929	6.36577606201172e-05
LUAD	MTOR	EIF4EBP1	-2.82691479456829	6.51132046672323e-08
LIHC	MTOR	RPTOR	-4.36362270436135	6.64579404273587e-07
BRCA	MTOR	RICTOR	-1.23696248638589	7.64567674547321e-05
BRCA	MTOR	EIF4EBP1	-1.867430312542	8.26346922422571e-07
KIRC	MTOR	EIF4EBP1	-3.14860466879601	9.40007073737459e-12

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

PPI interactors with MTOR

UBQLN1, RICTOR, RPTOR, FKBP1A, ABL1, EIF4EBP1, AKT1, MTOR, IRS1, LRPAP1, PRKAA1, PRKCD, RHEB, RPS6KB1, CLIP1, STAT1, EIF3B, EIF3C, EIF3F, GPHN, MAPKAP1, GDI2P1, PA2G4, PDK1, CFP, PLD2, PPP2R2A, RAP1A, STAT3, TERT, Rheb, Stat3, MLST8, Rps6kb1, FBXW7, tti1, TTI1, TELO2, DEPTOR, PRR5, PRKCA, RPL23, RPS6, RPL23A, RPL26, RPL5, GSK3B, C7orf25, CDC37, SEPT2, TERF1, SIRT7, Rptor, USP9X, RUVBL2, RUVBL1, SQSTM1, RRAGC, MAPK8, AKT1S1, EIF4EBP2, ULK1, RRAGD, PML, STK38, BRCA1, DDB1, VCP, METAP2, TP53, SIRT1, PREX1, PREX2, LARS, PDIA3, HSPA4, AMBRA1, TRAF6, EGFR, YWHAQ, MTA2, FKBP8, Bicd2, GNB1, GNG2, GNB2, GNB3, GNB5, RRAGB, PRR5L, ILK, NCBP1, EIF4E, CHUK, IKBKB, IKBKG, NFKBIA, SGK1, Sgk1, GADD45A, RHEBL1, SHMT2, MOV10, NXF1, MAF1, NBN, LAMTOR2, BCL2L1, SUZ12, SUMO1, GTF3C1, PRKAR1A, YWHAZ, BSG, CD274, VSIG2, CA14, NT5E, CD244, LYPD3, RP2, SCN2B, HTR6, MLXIP, MLXIPL, DIAPH1, TRMT61A, XPO1, HNRNPD, LLGL2, YEATS4, SYNCRIP, SGTB, VPS16, NAF1, ASPM, BAG6, ZSCAN26, Itgb1, Junb, Map3k12, Ckap5, Phospho1, Kif19a, TRAF2, TNFAIP3, RAB1A, RAP2A, PARK2, BRAT1, MAP3K3, DCP2, MTMR3, ZNRF2, FBXO8, PDGFRA, PRKDC, CHEK1, KDM5C, IGF1R, SMAD4, TOP1, CASP8, PTEN, LEFTY1, SCN3B, VIPR2, NTRK3, NPY2R, CD83, TMEM206, DPEP1, HTT, THADA, SMDT1, XPO6, XPO4, MAP2K1, MAPK1, RABGGTB, FNTA, TUBA1A, WEE1, ESR1, TRIM25, SKP2, EP300, IRS2, ZUFSP, CFTR, ATP5A1, BTF3, CMAS, EIF3D, GFI1B, MAX, MRPL13, MRPL19, MRPS5, NDUFA8, NDUFA9, NDUFB2, SNAPC1, SSB, TMEM261, MDM4, LAMP1, HIF1A, LARP1, HRAS, KRAS, NRAS, BECN1, UVRAG, PIK3R4, PIK3C3, KIAA0226, LANCL2, KIAA1429, LAMP2, WIPI2, ZDHHC18, ZDHHC23, SHOC2, CD74, P2RY6, TNFSF13B, UNC93B1, TBK1, ACPP, BIRC3, STAU1, LMBR1L, PGRMC1, Hsp22, TRIM37, TRIM28, WWOX, PLEKHA4, MCAM, LRRC31, BCAR1, ORF7a, nsp1ab, UBR5, RNF126, KIAA1715, CUL4A, MKRN2, EDEM1, SOSTDC1, CYB5B, NPTN, SEMA4C, ARSE, CMKLR1, FPR1, OPALIN, CCDC167, CD40, GPR182, CD80, CXCR4, LRRC25, GYPA, TACSTD2, SLC31A1, ITFG3, IGHM, HYPM, HCST, C3orf18, EFNA5, GPR17, MFSD4, GPR45, ILVBL, CACNG4, FAM174A, APLNR, GPR55, VSIG4, TNFSF8, MICA, P2RY8, SPN, COMTD1, ISLR, PCNA, RPS6KB2, PIH1D1, VHL,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
MTOR	chr1	11166713	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
MTOR	chr1	11167479	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
MTOR	chr1	11167541	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
MTOR	chr1	11167560	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11167598	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11167760	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11167829	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11167910	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11168048	T	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11168098	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11168232	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11168244	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11168276	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11168279	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11168296	C	T	single_nucleotide_variant	not_provided	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11168311	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11168332	A	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11168385	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11168529	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11168626	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11169239	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11169272	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11169273	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11169361	C	G	single_nucleotide_variant	Likely_pathogenic	Kidney_Carcinoma	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11169361	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11169366	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11169374	T	A	single_nucleotide_variant	Pathogenic	CEBALID_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11169374	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11169375	A	C	single_nucleotide_variant	Likely_pathogenic	Breast_neoplasm\|Renal_cell_carcinoma,_papillary,_1\|Adenocarcinoma_of_stomach\|Smith-Kingsmore_syndrome\|Malignant_neoplasm_of_body_of_uterus	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11169377	T	A	single_nucleotide_variant	Likely_pathogenic	Breast_neoplasm\|Renal_cell_carcinoma,_papillary,_1\|Adenocarcinoma_of_stomach\|Malignant_neoplasm_of_body_of_uterus	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11169379	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11169420	G	A	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11169437	A	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11169676	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11169679	G	T	single_nucleotide_variant	Uncertain_significance	Brain_malformation	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11169699	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11169737	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11169740	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11169744	T	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11169747	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11169750	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11169752	G	C	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11169762	C	A	single_nucleotide_variant	not_provided	Smith-Kingsmore_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11169775	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11169779	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11169783	A	G	single_nucleotide_variant	Uncertain_significance	not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11169789	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11169795	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11169798	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11169826	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11169868	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11170050	C	CA	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11170050	CA	C	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11170066	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11170067	A	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11170068	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11172799	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11172909	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11172910	G	A	single_nucleotide_variant	Uncertain_significance	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11172933	AATCCGT	A	Deletion	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Smith-Kingsmore_syndrome	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
MTOR	chr1	11172937	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11172959	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11172961	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11172964	T	TTTG	Duplication	Likely_benign	not_provided	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
MTOR	chr1	11172968	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11172982	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11173169	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11174067	A	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11174141	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11174331	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11174365	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11174383	A	G	single_nucleotide_variant	Likely_pathogenic	Smith-Kingsmore_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11174395	A	G	single_nucleotide_variant	Pathogenic	Focal_cortical_dysplasia_type_II\|Brain_malformation\|CEBALID_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11174395	A	T	single_nucleotide_variant	Pathogenic	Focal_cortical_dysplasia_type_II	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11174403	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11174420	C	T	single_nucleotide_variant	Pathogenic	Transitional_cell_carcinoma_of_the_bladder\|CEBALID_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11174427	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11174437	C	A	single_nucleotide_variant	Pathogenic	CEBALID_syndrome\|Inborn_genetic_diseases	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11174448	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11174459	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11174459	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Macrocephalus\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11174487	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11174516	A	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11174792	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11174838	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11174851	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11174859	T	C	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11174875	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11174876	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11174909	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11174935	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11175270	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11175404	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11175444	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11175466	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11175480	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11175504	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11175572	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11175693	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11177072	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11177096	C	T	single_nucleotide_variant	Pathogenic	Smith-Kingsmore_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11177101	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11177102	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11177112	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11177120	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11177121	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11177131	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
MTOR	chr1	11177153	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11177187	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11181090	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11181295	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11181327	C	T	single_nucleotide_variant	Benign	Smith-Kingsmore_syndrome\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11181345	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11181361	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11181365	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11181366	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11181392	GC	AA	Indel	Uncertain_significance	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
MTOR	chr1	11181398	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11181417	C	T	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11181418	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11181425	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11181457	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11181475	T	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11181630	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11181841	ATT	A	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11181847	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11181985	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11181987	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11182033	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11182038	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11182051	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11182057	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11182063	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11182082	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11182085	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11182094	C	T	single_nucleotide_variant	Uncertain_significance	Overgrowth_syndrome_and/or_cerebral_malformations_due_to_abnormalities_in_MTOR_pathway_genes\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11182095	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11182104	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11182111	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11182153	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11182156	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11182171	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11182171	G	GT	Duplication	not_provided	Focal_cortical_dysplasia_type_II\|Smith-Kingsmore_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
MTOR	chr1	11182179	G	T	single_nucleotide_variant	Likely_pathogenic	Kidney_Carcinoma	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11182183	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11182189	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11182192	C	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11182229	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11182261	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11182261	G	GT	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11184347	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11184443	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11184489	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11184524	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11184573	G	A	single_nucleotide_variant	Pathogenic	Renal_cell_carcinoma,_papillary,_1\|Malignant_melanoma_of_skin\|Focal_cortical_dysplasia_type_II\|Neoplasm_of_uterine_cervix\|Neoplasm_of_the_large_intestine\|Brain_malformation\|Glioblastoma\|Papillary_renal_cell_carcinoma,_sporadic\|Malignant_neoplasm_of_body_o	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11184573	G	T	single_nucleotide_variant	Pathogenic	Renal_cell_carcinoma,_papillary,_1\|Malignant_melanoma_of_skin\|Focal_cortical_dysplasia_type_II\|Neoplasm_of_uterine_cervix\|Neoplasm_of_the_large_intestine\|Brain_malformation\|Glioblastoma\|Papillary_renal_cell_carcinoma,_sporadic\|Malignant_neoplasm_of_body_o	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11184574	A	G	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11184574	A	T	single_nucleotide_variant	Likely_pathogenic	Renal_cell_carcinoma,_papillary,_1\|Malignant_melanoma_of_skin\|Neoplasm_of_uterine_cervix\|Neoplasm_of_the_large_intestine\|Glioblastoma\|Papillary_renal_cell_carcinoma,_sporadic\|Malignant_neoplasm_of_body_of_uterus	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11184580	G	A	single_nucleotide_variant	not_provided	Melanoma	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11184585	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11184592	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11184592	G	C	single_nucleotide_variant	Likely_pathogenic	Metastatic_pancreatic_neuroendocrine_tumours	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11184593	A	G	single_nucleotide_variant	Benign	Smith-Kingsmore_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11184598	T	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11184611	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11184632	A	G	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11184640	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11184643	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11184650	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11184683	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11186681	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11186697	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11186722	T	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11186731	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11186732	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11186743	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11186750	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11186751	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11186757	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11186761	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11186764	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11186765	T	G	single_nucleotide_variant	Likely_benign	Brain_malformation	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11186773	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11186776	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11186787	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11186803	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11186839	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11186856	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11186863	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11186897	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11187029	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11187045	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11187089	C	T	single_nucleotide_variant	Uncertain_significance	Inborn_genetic_diseases\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11187092	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11187092	CG	C	Deletion	Uncertain_significance	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
MTOR	chr1	11187097	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11187103	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11187106	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11187151	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11187160	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11187170	T	TA	Insertion	Uncertain_significance	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
MTOR	chr1	11187191	C	T	single_nucleotide_variant	Likely_pathogenic	Smith-Kingsmore_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11187206	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11187386	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11187630	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11187685	T	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11187686	T	TA	Duplication	Uncertain_significance	Smith-Kingsmore_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
MTOR	chr1	11187692	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11187693	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11187718	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11187719	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11187728	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11187765	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11187767	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11187768	G	A	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11187771	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11187777	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11187783	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11187790	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11187791	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11187795	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11187796	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11187807	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11187810	TTCATGCCACATC	T	Deletion	Uncertain_significance	not_provided	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
MTOR	chr1	11187834	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11187847	A	G	single_nucleotide_variant	Likely_pathogenic	CEBALID_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11187849	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11187857	C	T	single_nucleotide_variant	Likely_pathogenic	Transitional_cell_carcinoma_of_the_bladder	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11187893	T	C	single_nucleotide_variant	Benign	Smith-Kingsmore_syndrome\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11188012	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11188053	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11188054	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11188058	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11188066	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11188073	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11188075	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11188076	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11188085	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11188090	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11188091	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11188097	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11188100	CAT	C	Deletion	Likely_benign	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
MTOR	chr1	11188101	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11188116	T	C	single_nucleotide_variant	Uncertain_significance	Overgrowth_syndrome_and/or_cerebral_malformations_due_to_abnormalities_in_MTOR_pathway_genes\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11188142	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11188164	G	A	single_nucleotide_variant	Pathogenic	MTOR-related_megalencephaly_and_pigmentary_mosaicism_in_skin\|Focal_cortical_dysplasia_type_II\|CEBALID_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11188164	G	C	single_nucleotide_variant	Likely_pathogenic	Brain_malformation	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11188164	G	T	single_nucleotide_variant	Pathogenic	Brain_malformation\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11188168	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11188182	G	A	single_nucleotide_variant	Likely_pathogenic	Smith-Kingsmore_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11188183	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11188193	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11188215	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11188494	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11188519	G	A	single_nucleotide_variant	not_provided	Melanoma	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11188524	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11188531	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11188544	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11188557	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11188562	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11188572	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11188577	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11188577	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11188578	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11188618	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11188626	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11188628	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11188882	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11188899	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11188906	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11188924	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11188938	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11188948	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11188964	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11188975	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11188979	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11189016	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11189017	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11189077	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11189191	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11189207	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11189785	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11189789	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11189803	AT	A	Deletion	Uncertain_significance	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
MTOR	chr1	11189822	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11189840	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11189846	A	C	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Smith-Kingsmore_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11189849	C	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11189856	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Smith-Kingsmore_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11189859	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11189866	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11189879	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11189882	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11189911	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11190181	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11190546	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11190590	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190594	CCTT	C	Microsatellite	Uncertain_significance	not_provided	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
MTOR	chr1	11190595	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11190607	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11190607	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11190608	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190610	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11190611	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190613	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11190618	T	A	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190623	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190628	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11190629	T	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190630	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190631	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11190632	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190639	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190640	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11190645	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190646	G	A	single_nucleotide_variant	Benign	Smith-Kingsmore_syndrome\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11190646	GC	AT	Indel	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190654	TGTTGCTGCCCTC	T	Deletion	Uncertain_significance	not_provided	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
MTOR	chr1	11190662	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190664	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11190665	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190667	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11190671	C	CTGGCAGTGGTGG	Duplication	Uncertain_significance	not_provided	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
MTOR	chr1	11190672	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190676	AGTGGTGGTGGCAGTGGCGGCC	A	Deletion	Uncertain_significance	not_provided	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
MTOR	chr1	11190679	G	GGTGGTGGCAGTGGCGGCC	Duplication	Benign	not_provided	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
MTOR	chr1	11190684	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190693	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190693	C	CGGCCGTGGTGGCGGCAGTGGT	Duplication	Uncertain_significance	not_provided	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
MTOR	chr1	11190693	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190694	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11190697	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11190697	CGTGGTGGCGGCA	C	Deletion	Benign	not_provided	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
MTOR	chr1	11190698	G	A	single_nucleotide_variant	Likely_benign	Brain_malformation\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190705	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190706	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11190718	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11190726	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190730	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11190733	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11190743	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190746	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190748	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11190751	TTTC	T	Microsatellite	Likely_benign	not_provided	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
MTOR	chr1	11190759	TCTC	T	Deletion	Uncertain_significance	not_provided	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
MTOR	chr1	11190765	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190767	C	A	single_nucleotide_variant	Uncertain_significance	Brain_malformation\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190767	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190768	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190780	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190796	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11190804	C	T	single_nucleotide_variant	Pathogenic	Intellectual_disability\|Intellectual_disability,_severe\|Focal_cortical_dysplasia_type_II\|Smith-Kingsmore_syndrome\|CEBALID_syndrome\|Inborn_genetic_diseases\|Rare_genetic_intellectual_disability\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190819	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190823	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11190834	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11190839	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11190844	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11192908	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11192956	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11193147	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11193149	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11193151	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11193156	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11193166	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11193167	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11193170	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11193173	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11193180	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11193187	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11193196	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11193197	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11193227	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11193254	T	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11193401	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11193406	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11193408	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11193530	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11193560	A	AGTT	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11194117	TA	T	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11194117	TAA	T	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11194390	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11194391	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11194399	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11194399	GG	AC	Indel	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11194400	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11194402	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11194410	G	T	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11194416	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11194417	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11194424	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11194425	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11194446	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11194457	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11194467	C	A	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11194483	A	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11194483	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11194484	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11194500	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11194512	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11194515	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11194520	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11194521	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11194529	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11194535	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11194591	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11194826	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11194836	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11199126	CAT	C	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11199149	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11199365	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11199371	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11199378	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11199390	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11199394	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11199398	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11199413	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11199416	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11199419	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11199431	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11199433	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11199443	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11199448	C	T	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11199486	C	A	single_nucleotide_variant	Likely_pathogenic	Brain_malformation	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11199492	CCTTAAAAATAAGAGAAA	C	Deletion	Uncertain_significance	not_provided	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
MTOR	chr1	11199518	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11199521	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11199536	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11199541	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11199578	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11199597	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11199600	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11199608	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11199647	A	C	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11199648	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11199650	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11199666	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11199680	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11199692	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11199698	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11199704	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11199704	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11199709	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
MTOR	chr1	11199881	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11199937	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11204696	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11204710	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11204715	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11204730	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
MTOR	chr1	11204731	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
MTOR	chr1	11204736	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
MTOR	chr1	11204740	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
MTOR	chr1	11204749	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
MTOR	chr1	11204780	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
MTOR	chr1	11204782	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
MTOR	chr1	11204792	C	T	single_nucleotide_variant	Pathogenic	Smith-Kingsmore_syndrome	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
MTOR	chr1	11204807	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant	SO:0001583\|missense_variant,SO:0001619\|non-coding_transcript_variant
MTOR	chr1	11204810	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
MTOR	chr1	11204822	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
MTOR	chr1	11205031	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11205035	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11205049	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11205052	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11205058	C	T	single_nucleotide_variant	Benign	Smith-Kingsmore_syndrome\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11205090	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11205091	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11205097	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11205105	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11205111	G	GA	Duplication	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11205115	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11205289	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant	SO:0001619\|non-coding_transcript_variant,SO:0001627\|intron_variant
MTOR	chr1	11206479	C	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11206544	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11206623	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11206690	A	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11206739	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11206770	A	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11206790	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11206791	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11206796	A	T	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11206807	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11206811	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11206813	T	C	single_nucleotide_variant	Uncertain_significance	Smith-Kingsmore_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11206822	T	C	single_nucleotide_variant	Uncertain_significance	Smith-Kingsmore_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11206828	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11206858	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11207152	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11209840	TCTGCTG	T	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11209899	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11210104	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11210197	G	A	single_nucleotide_variant	Likely_pathogenic	CEBALID_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11210198	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Smith-Kingsmore_syndrome\|CEBALID_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11210213	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11210229	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11210231	T	A	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11210238	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11210244	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11210278	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11210281	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11210286	G	A	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11210450	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11216903	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11217210	A	G	single_nucleotide_variant	Likely_pathogenic	Brain_malformation	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11217226	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11217226	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11217229	G	C	single_nucleotide_variant	Likely_pathogenic	Breast_neoplasm\|Renal_cell_carcinoma,_papillary,_1\|Glioblastoma	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11217230	C	A	single_nucleotide_variant	Pathogenic	Breast_neoplasm\|Renal_cell_carcinoma,_papillary,_1\|Smith-Kingsmore_syndrome\|Glioblastoma\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11217230	C	T	single_nucleotide_variant	Pathogenic	Breast_neoplasm\|Renal_cell_carcinoma,_papillary,_1\|Brain_malformation\|Glioblastoma\|CEBALID_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11217231	A	G	single_nucleotide_variant	Pathogenic	Hemimegalencephaly\|Breast_neoplasm\|Renal_cell_carcinoma,_papillary,_1\|Brain_malformation\|Glioblastoma	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11217234	G	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11217234	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11217238	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11217239	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11217241	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11217261	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11217262	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11217263	TC	T	Deletion	Uncertain_significance	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
MTOR	chr1	11217266	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11217276	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11217296	A	G	single_nucleotide_variant	Uncertain_significance	Brain_malformation\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11217299	A	G	single_nucleotide_variant	Pathogenic	Focal_cortical_dysplasia_type_II\|Brain_malformation\|Kidney_Carcinoma	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11217302	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11217303	C	A	single_nucleotide_variant	Uncertain_significance	Brain_malformation	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11217312	A	C	single_nucleotide_variant	Pathogenic	Focal_cortical_dysplasia_type_II	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11217316	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11217320	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11217322	T	A	single_nucleotide_variant	Likely_pathogenic	CEBALID_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11217343	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11217385	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11217665	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11227224	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11227338	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11227360	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11227365	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11227507	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11227535	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11227537	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11227538	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11227538	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11227541	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11227550	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11227568	A	G	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11227838	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11227864	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11259306	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11259309	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11259371	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11259404	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11259404	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11259424	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11259439	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11259440	A	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Intellectual_disability\|Seizures\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11259446	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11259506	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11259567	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11259590	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11259597	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
MTOR	chr1	11259621	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11259655	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11259682	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11259682	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11259697	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11259715	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11259733	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11259742	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11259830	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11259879	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11259950	T	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11264299	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11264573	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11264577	TCTATGTGCTGATCTTCTCCACCCGCCCTGACACA	T	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11264614	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11264623	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11264629	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11264659	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11264661	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11264668	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11264674	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11264706	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11264707	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11264713	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11264728	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11264732	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11264745	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11264752	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11264764	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11264768	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11264828	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11264938	AC	A	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11269360	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11269362	G	C	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11269379	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11269411	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11269425	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11269431	T	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11269437	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11269444	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11269454	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11269464	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11269466	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11269500	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11269506	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11269518	ACAACCAAAGAT	A	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11269522	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11269796	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11270813	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11270865	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11270867	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11270872	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11270874	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11270879	T	C	single_nucleotide_variant	Likely_benign	Intellectual_disability\|Brain_malformation\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11270895	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11270897	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11270901	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11270902	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11270902	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11270903	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11270903	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11270905	T	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11270918	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11270919	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11270932	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11270971	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11271046	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11272319	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11272380	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11272389	C	T	single_nucleotide_variant	Likely_benign	Neurodevelopmental_disorder,_MTOR_related\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11272390	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11272393	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11272403	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11272416	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11272422	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11272432	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11272448	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11272449	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11272455	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11272468	C	G	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11272474	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11272478	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11272495	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11272501	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11272512	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11272525	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11272526	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11272529	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11272862	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11272862	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11272876	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11272899	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11272902	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11272911	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11272915	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11272921	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11272991	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11273418	T	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11273443	G	A	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11273464	A	C	single_nucleotide_variant	Uncertain_significance	not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11273465	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11273470	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11273473	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11273494	T	C	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11273502	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11273509	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11273522	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11273527	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11273546	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11273578	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11273587	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11273588	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11273589	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11273599	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11273600	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11273631	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11275953	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11276126	A	AT	Insertion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11276171	C	T	single_nucleotide_variant	Benign	Brain_malformation\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11276209	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11276210	T	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11276213	G	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11276231	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11276234	A	G	single_nucleotide_variant	Uncertain_significance	Inborn_genetic_diseases	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11276238	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11276262	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11276274	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11276276	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11276335	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11276341	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11276353	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11288618	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11288633	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11288678	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11288721	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11288728	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11288729	C	T	single_nucleotide_variant	Pathogenic	Renal_cell_carcinoma,_papillary,_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11288750	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11288751	G	A	single_nucleotide_variant	Uncertain_significance	Brain_malformation	SO:0001587\|nonsense	SO:0001587\|nonsense
MTOR	chr1	11288751	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11288754	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11288758	G	A	single_nucleotide_variant	Benign	Smith-Kingsmore_syndrome\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11288767	C	G	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11288767	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11288768	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11288779	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11288782	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11288784	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11288785	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11288785	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11288788	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11288791	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11288796	C	T	single_nucleotide_variant	Uncertain_significance	Smith-Kingsmore_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11288844	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11288847	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11288849	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11288851	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11288866	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11288870	T	C	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11288898	C	T	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11288901	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11288924	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11288943	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11288947	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11288950	C	T	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11288959	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11288961	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11288963	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11289161	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11290957	T	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11290966	G	A	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11291001	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11291009	AC	GA	Indel	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11291033	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11291044	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11291052	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11291053	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11291084	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11291115	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11291117	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11291131	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11291168	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11291330	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11291347	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11291348	G	A	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11291365	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11291404	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11291407	C	CCTCAAGCAAAGTAGGGTACTTCCTA	Insertion	Likely_benign	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
MTOR	chr1	11291422	G	T	single_nucleotide_variant	Uncertain_significance	not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11291425	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11291427	T	A	single_nucleotide_variant	Uncertain_significance	Smith-Kingsmore_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11291427	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11291441	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11291495	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11291512	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11292308	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11292476	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11292505	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11292520	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11292535	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11292539	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11292552	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11292556	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11292558	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11292566	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11292632	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11292666	T	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11292753	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11292881	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11293200	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11293216	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11293217	G	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11293325	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11293367	T	TA	Duplication	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11293452	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11293461	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11293464	T	C	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11293472	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11293484	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11293584	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11293792	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11293959	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11294101	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11294191	TTG	T	Microsatellite	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11294194	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11294203	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11294212	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11294217	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11294226	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11294230	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11294242	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11294246	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11294248	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11294259	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11294268	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11294279	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11294293	A	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11294299	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11294328	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11294331	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11294382	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11294388	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11294474	T	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11297762	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11297878	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11297893	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11297894	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11297947	T	A	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11297966	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11297978	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11297980	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11297986	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11297988	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11297993	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11298005	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11298035	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11298038	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11298049	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11298052	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298063	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298064	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298068	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11298077	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11298078	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298086	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11298100	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298461	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298476	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298518	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298519	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298521	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298534	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298536	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298542	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298552	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298574	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11298578	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298579	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298583	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11298590	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298591	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298604	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11298604	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11298606	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298607	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11298610	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11298631	G	A	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11298638	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298640	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11298641	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298645	A	G	single_nucleotide_variant	Likely_pathogenic	Smith-Kingsmore_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298660	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
MTOR	chr1	11298661	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11298665	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298668	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11298670	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11298679	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11298739	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11298790	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11298823	C	CT	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11300132	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11300135	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11300207	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11300338	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11300345	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11300361	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11300373	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11300387	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
MTOR	chr1	11300404	C	T	single_nucleotide_variant	Uncertain_significance	not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11300409	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11300411	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11300414	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11300430	GGTC	G	Deletion	Uncertain_significance	not_provided	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
MTOR	chr1	11300433	C	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11300434	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11300442	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11300465	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11300488	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11300489	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11300493	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11300494	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11300499	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11300517	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11300531	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11300532	C	G	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11300540	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
MTOR	chr1	11300546	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11300569	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11300570	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11300575	A	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11300576	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11300580	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11300589	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11300591	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11300594	T	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11300610	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11301293	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11301377	C	CA	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11301377	C	CAA	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11301377	CA	C	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11301600	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11301651	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11301669	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11301674	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11301675	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11301713	C	A	single_nucleotide_variant	Uncertain_significance	Smith-Kingsmore_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11301713	CA	TG	Inversion	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11301714	A	G	single_nucleotide_variant	Benign	Smith-Kingsmore_syndrome\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11301739	CTG	C	Deletion	Conflicting_interpretations_of_pathogenicity	not_provided	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
MTOR	chr1	11301744	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11301841	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11301957	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11302065	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11303087	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11303153	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11303163	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11303166	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11303178	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11303182	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11303189	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11303190	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11303194	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11303196	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11303200	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11303201	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11303201	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11303210	A	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11303226	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11303231	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11303235	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11303241	A	ACTCAGACCTCACAGCCACAGAAAGTAGCCCCAGGGCTTGGAAGGCCGCTGTACGTTCCTTCTCCTT	Duplication	Uncertain_significance	Inborn_genetic_diseases	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
MTOR	chr1	11303248	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11303251	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11303256	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11303287	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11303288	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11303290	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11303294	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11303305	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11303313	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11303326	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11303334	T	C	single_nucleotide_variant	Uncertain_significance	Brain_malformation	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant
MTOR	chr1	11303339	T	C	single_nucleotide_variant	Uncertain_significance	Smith-Kingsmore_syndrome	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11303341	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11303361	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11303362	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11303383	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11303478	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11303610	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11307672	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11307683	T	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
MTOR	chr1	11307704	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
MTOR	chr1	11307714	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11307715	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11307731	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
MTOR	chr1	11307733	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11307756	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11307759	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11307760	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
MTOR	chr1	11307762	T	C	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11307764	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
MTOR	chr1	11307833	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11307866	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11307911	A	T	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11307913	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11307915	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11307928	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11307941	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11307945	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11307954	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11307956	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11307961	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11307963	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11307973	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11307980	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11307995	G	A	single_nucleotide_variant	Uncertain_significance	Brain_malformation	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11308007	C	T	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11308048	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11308061	G	A	single_nucleotide_variant	Uncertain_significance	not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11308074	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11308087	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11308094	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11308099	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11308103	C	T	single_nucleotide_variant	Benign/Likely_benign	Renal_cell_carcinoma,_papillary,_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11308104	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11308124	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11308150	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11308157	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11308159	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11308161	TGAG	T	Microsatellite	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11308179	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11308293	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11308459	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11313707	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11313728	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11313905	C	A	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11313916	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11313929	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11313929	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11313945	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11313992	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11313993	G	A	single_nucleotide_variant	Uncertain_significance	Smith-Kingsmore_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11313993	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11314020	T	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11314039	A	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11314040	G	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11314048	G	T	single_nucleotide_variant	Likely_benign	Brain_malformation	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11314302	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11314340	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11315903	C	CA	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11315903	C	CAA	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11315903	CA	C	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11316005	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11316008	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11316021	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11316023	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11316055	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001587\|nonsense,SO:0001623\|5_prime_UTR_variant	SO:0001587\|nonsense,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11316079	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11316091	G	C	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11316097	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11316113	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11316121	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11316124	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11316137	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11316139	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11316144	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11316148	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11316163	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11316187	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11316190	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11316202	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11316220	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11316235	A	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11316238	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11316244	C	G	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11316251	T	C	single_nucleotide_variant	Uncertain_significance	Smith-Kingsmore_syndrome\|not_provided	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
MTOR	chr1	11316257	A	T	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11316258	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11316341	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11316342	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11316847	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11316948	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11317004	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11317012	T	C	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11317014	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11317018	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11317049	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11317061	C	T	single_nucleotide_variant	Uncertain_significance	Inborn_genetic_diseases	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11317071	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11317079	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11317092	G	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11317093	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11317098	A	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11317099	C	T	single_nucleotide_variant	Benign/Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11317100	G	A	single_nucleotide_variant	Uncertain_significance	Smith-Kingsmore_syndrome	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11317105	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11317113	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11317146	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11317152	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11317183	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11317185	T	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11317193	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11317205	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11317215	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11317226	CAA	C	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11317235	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11317259	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11317310	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11317320	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11317363	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11317402	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11317437	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11317437	C	CA	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11318236	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11318558	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11318584	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11318632	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11318638	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11318656	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11318658	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11318763	C	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11318807	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11318983	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11319037	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11319228	C	CA	Duplication	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11319257	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11319309	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11319310	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
MTOR	chr1	11319317	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11319327	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11319329	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11319339	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11319346	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11319347	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11319348	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11319349	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11319355	C	T	single_nucleotide_variant	Benign	Smith-Kingsmore_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11319384	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11319388	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11319406	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11319413	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11319421	A	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11319429	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11319433	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
MTOR	chr1	11319434	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11319443	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11319445	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11319446	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11319455	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
MTOR	chr1	11319587	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
MTOR	chr1	11322565	C	G	single_nucleotide_variant	Benign	not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11322628	G	T	single_nucleotide_variant	Benign	not_provided	SO:0002153\|genic_upstream_transcript_variant	SO:0002153\|genic_upstream_transcript_variant
MTOR	chr1	11322909	G	T	single_nucleotide_variant	Benign	not_provided	SO:0002153\|genic_upstream_transcript_variant	SO:0002153\|genic_upstream_transcript_variant
MTOR	chr1	11333252	C	T	single_nucleotide_variant	Uncertain_significance	Schnyder_crystalline_corneal_dystrophy
MTOR	chr1	11333278	C	T	single_nucleotide_variant	Uncertain_significance	Schnyder_crystalline_corneal_dystrophy	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11333279	C	T	single_nucleotide_variant	Uncertain_significance	Schnyder_crystalline_corneal_dystrophy	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11333394	G	A	single_nucleotide_variant	Benign	Schnyder_crystalline_corneal_dystrophy	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11333485	G	A	single_nucleotide_variant	Uncertain_significance	Schnyder_crystalline_corneal_dystrophy	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11333503	G	C	single_nucleotide_variant	Uncertain_significance	Schnyder_crystalline_corneal_dystrophy	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11333511	G	C	single_nucleotide_variant	Uncertain_significance	Schnyder_crystalline_corneal_dystrophy	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
MTOR	chr1	11333542	T	G	single_nucleotide_variant	Benign	Schnyder_crystalline_corneal_dystrophy	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_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
MTOR	COAD	chr1	11184573	11184573	G	T	Missense_Mutation	p.S2215Y	15
MTOR	COAD	chr1	11190804	11190804	C	T	Missense_Mutation	p.E1799K	10
MTOR	KIRC	chr1	11188164	11188164	G	C	Missense_Mutation	p.T1977R	7
MTOR	LIHC	chr1	11169374	11169374	T	A	Missense_Mutation	p.I2501F	6
MTOR	BRCA	chr1	11169377	11169377	T	A	Missense_Mutation	p.I2500F	6
MTOR	KIRC	chr1	11169375	11169375	A	C	Missense_Mutation	p.I2500M	6
MTOR	CESC	chr1	11184573	11184573	G	T	Missense_Mutation		5
MTOR	LIHC	chr1	11169374	11169374	T	A	Missense_Mutation		5
MTOR	LUAD	chr1	11297963	11297963	C	A	Silent	p.V715V	5
MTOR	BRCA	chr1	11188177	11188177	T	A	Missense_Mutation	p.I1973F	5
MTOR	KIRP	chr1	11273603	11273603	G	C	Silent	p.T1046T	4
MTOR	CESC	chr1	11181396	11181396	C	T	Silent		4
MTOR	SKCM	chr1	11199665	11199665	G	A	Silent	p.S1641S	4
MTOR	OV	chr1	11272938	11272938	C	T	Missense_Mutation	p.A1105T	4
MTOR	BRCA	chr1	11174872	11174872	C	G	Missense_Mutation	p.E2388Q	4
MTOR	BLCA	chr1	11187803	11187803	C	T	Missense_Mutation	p.E2032K	4
MTOR	BRCA	chr1	11187855	11187855	C	T	Silent	p.E2014	4
MTOR	SKCM	chr1	11300494	11300494	G	A	Missense_Mutation	p.P551L	4
MTOR	SKCM	chr1	11199666	11199666	G	A	Missense_Mutation	p.S1641F	4
MTOR	COAD	chr1	11189841	11189841	G	A	Missense_Mutation	p.R1890C	4
MTOR	STAD	chr1	11313928	11313928	C	T	Missense_Mutation	p.E270K	4
MTOR	STAD	chr1	11273588	11273588	C	T	Silent	p.T1051T	4
MTOR	UCEC	chr1	11210216	11210216	C	T	Missense_Mutation	p.A1513T	3
MTOR	LIHC	chr1	11204794	11204794	T	C	Missense_Mutation	p.M1595V	3
MTOR	ESCA	chr1	11181417	11181417	C	A	Silent	p.P2273P	3
MTOR	THYM	chr1	11169741	11169741	G	A	Missense_Mutation	p.T2471M	3
MTOR	BRCA	chr1	11217313	11217313	C	T	Silent	p.E1455	3
MTOR	UCEC	chr1	11168338	11168338	C	A	Missense_Mutation	p.D2512Y	3
MTOR	UCEC	chr1	11188173	11188173	T	C	Missense_Mutation	p.Y1974C	3
MTOR	KIRC	chr1	11189845	11189845	G	C	Missense_Mutation	p.F1888L	3
MTOR	BLCA	chr1	11187803	11187803	C	T	Missense_Mutation		3
MTOR	BRCA	chr1	11307746	11307746	C	T	Silent	p.L387	3
MTOR	SKCM	chr1	11177099	11177099	G	A	Silent	p.V2326V	3
MTOR	LIHC	chr1	11316988	11316988	A	T	Splice_Site		3
MTOR	PAAD	chr1	11199383	11199383	T	C	Missense_Mutation	p.N1703S	3
MTOR	BRCA	chr1	11313969	11313969	T	C	Missense_Mutation	p.N256S	3
MTOR	SKCM	chr1	11186751	11186751	G	A	Missense_Mutation	p.R2152C	3
MTOR	CESC	chr1	11184573	11184573	G	A	Missense_Mutation	p.S2215F	3
MTOR	ESCA	chr1	11177065	11177065	C	T	Missense_Mutation	p.D2338N	3
MTOR	KIRC	chr1	11177096	11177096	C	T	Missense_Mutation	p.M2327I	3
MTOR	PAAD	chr1	11317062	11317062	G	A	Silent	p.Y144Y	3
MTOR	BRCA	chr1	11317097	11317097	G	C	Missense_Mutation	p.L133V	3
MTOR	UCEC	chr1	11276257	11276257	A	G	Missense_Mutation	p.F1022S	3
MTOR	PAAD	chr1	11194521	11194521	G	A	Silent	p.I1711I	3
MTOR	BRCA	chr1	11317205	11317205	C	A	Nonsense_Mutation	p.E97*	3
MTOR	SKCM	chr1	11204731	11204731	G	A	Missense_Mutation	p.R1616C	3
MTOR	UCEC	chr1	11269454	11269454	C	T	Missense_Mutation	p.S1239N	3
MTOR	PAAD	chr1	11270930	11270930	G	T	Missense_Mutation	p.L1199M	3
MTOR	UCEC	chr1	11187860	11187860	T	C	Missense_Mutation	p.S2013G	3
MTOR	HNSC	chr1	11297982	11297982	T	C	Missense_Mutation	p.E709G	3
MTOR	PAAD	chr1	11193143	11193143	C	G	Missense_Mutation	p.W1786C	3
MTOR	KIRC	chr1	11217299	11217299	A	G	Missense_Mutation	p.L1460P	3
MTOR	ESCA	chr1	11288958	11288958	C	T	Missense_Mutation	p.E933K	3
MTOR	UCEC	chr1	11272451	11272451	A	C	Missense_Mutation	p.V1160G	3
MTOR	HNSC	chr1	11298657	11298657	A	G	Missense_Mutation	p.F602L	3
MTOR	LIHC	chr1	11292498	11292498	T	-	Frame_Shift_Del	p.R837fs	3
MTOR	LUAD	chr1	11308080	11308080	C	A	Missense_Mutation	p.M304I	3
MTOR	ESCA	chr1	11291476	11291476	G	T	Missense_Mutation	p.L844M	3
MTOR	UCEC	chr1	11273543	11273543	T	A	Missense_Mutation	p.E1066D	3
MTOR	LUAD	chr1	11270918	11270918	G	A	Nonsense_Mutation	p.R1203*	3
MTOR	ESCA	chr1	11292543	11292543	T	C	Missense_Mutation	p.I822V	3
MTOR	UCEC	chr1	11187730	11187730	G	A	Missense_Mutation	p.A2056V	3
MTOR	BRCA	chr1	11193225	11193225	A	C	Missense_Mutation	p.L1759R	3
MTOR	BLCA	chr1	11182125	11182125	G	A	Missense_Mutation		3
MTOR	BRCA	chr1	11204742	11204742	C	G	Missense_Mutation	p.R1612P	3
MTOR	UCEC	chr1	11272880	11272880	G	A	Missense_Mutation	p.A1124V	3
MTOR	LUAD	chr1	11297992	11297992	C	G	Missense_Mutation	p.E706Q	2
MTOR	UCEC	chr1	11194485	11194485	G	T	Silent	p.T1723	2
MTOR	CESC	chr1	11273502	11273502	C	G	Missense_Mutation		2
MTOR	SKCM	chr1	11184597	11184597	G	A	Missense_Mutation	p.T2207I	2
MTOR	STAD	chr1	11291018	11291018	C	A	Missense_Mutation	p.V915F	2
MTOR	LIHC	chr1	11276228	11276228	C	-	Frame_Shift_Del	p.D1032fs	2
MTOR	STAD	chr1	11184566	11184566	C	G	Silent	p.R2217R	2
MTOR	COAD	chr1	11217239	11217239	C	T	Missense_Mutation	p.R1480H	2
MTOR	LUAD	chr1	11300539	11300539	T	G	Missense_Mutation	p.Q536P	2
MTOR	UCEC	chr1	11298481	11298481	G	A	Silent	p.L660	2
MTOR	BRCA	chr1	11187116	11187116	C	A	Missense_Mutation	p.W2101L	2
MTOR	KIRC	chr1	11184579	11184579	G	A	Missense_Mutation	p.P2213L	2
MTOR	UVM	chr1	11169412	11169412	A	C	Missense_Mutation	p.V2488G	2
MTOR	SKCM	chr1	11187187	11187187	A	T	Missense_Mutation	p.D2077E	2
MTOR	BLCA	chr1	11187752	11187752	C	T	Missense_Mutation		2
MTOR	SKCM	chr1	11181421	11181421	G	A	Missense_Mutation	p.A2272V	2
MTOR	CESC	chr1	11184646	11184646	C	G	Missense_Mutation	p.D2191H	2
MTOR	ESCA	chr1	11184628	11184628	G	A	Missense_Mutation	p.R2197C	2
MTOR	UCEC	chr1	11199365	11199365	C	T	Missense_Mutation	p.R1709H	2
MTOR	SKCM	chr1	11300438	11300438	G	A	Missense_Mutation	p.L570F	2
MTOR	STAD	chr1	11313957	11313957	C	T	Missense_Mutation	p.R260Q	2
MTOR	LIHC	chr1	11303173	11303173	A	G	Silent		2
MTOR	LIHC	chr1	11301616	11301616	C	-	Frame_Shift_Del	p.G512fs	2
MTOR	STAD	chr1	11181356	11181356	T	C	Missense_Mutation	p.T2294A	2
MTOR	LUAD	chr1	11182049	11182049	C	G	Missense_Mutation	p.R2266P	2
MTOR	UCEC	chr1	11298590	11298590	C	T	Missense_Mutation	p.R624H	2
MTOR	BRCA	chr1	11270881	11270881	C	G	Missense_Mutation	p.R1215T	2
MTOR	KIRC	chr1	11308051	11308051	G	T	Missense_Mutation	p.T314N	2
MTOR	SKCM	chr1	11300507	11300507	G	A	Missense_Mutation	p.L547F	2
MTOR	KIRP	chr1	11307790	11307790	C	A	Splice_Site	p.V373_splice	2
MTOR	LUAD	chr1	11288885	11288885	C	T	Missense_Mutation	p.R957Q	2
MTOR	ESCA	chr1	11177065	11177065	C	T	Missense_Mutation		2
MTOR	KIRC	chr1	11227530	11227530	A	G	Missense_Mutation	p.L1433S	2
MTOR	UCEC	chr1	11199684	11199684	T	G	Missense_Mutation	p.K1635T	2
MTOR	CESC	chr1	11174420	11174420	C	T	Missense_Mutation		2
MTOR	SKCM	chr1	11293491	11293491	G	A	Silent	p.I795I	2
MTOR	STAD	chr1	11182172	11182172	T	C	Missense_Mutation	p.Y2225C	2
MTOR	LIHC	chr1	11308053	11308053	A	-	Frame_Shift_Del	p.I313fs	2
MTOR	STAD	chr1	11307756	11307756	T	C	Missense_Mutation	p.K384R	2
MTOR	STAD	chr1	11308061	11308061	G	A	Missense_Mutation	p.R311C	2
MTOR	LUAD	chr1	11300433	11300433	C	A	Silent	p.T571T	2
MTOR	UCEC	chr1	11298650	11298650	C	T	Missense_Mutation	p.R604H	2
MTOR	BRCA	chr1	11294317	11294317	C	G	Missense_Mutation	p.L738F	2
MTOR	SKCM	chr1	11174405	11174405	C	T	Missense_Mutation	p.D2424N	2
MTOR	COAD	chr1	11172953	11172953	C	T	Missense_Mutation	p.R2441Q	2
MTOR	THYM	chr1	11168267	11168267	A	T	Missense_Mutation		2
MTOR	UCEC	chr1	11168304	11168304	G	A	Missense_Mutation	p.T2523M	2
MTOR	GBM	chr1	11174395	11174395	A	T	Missense_Mutation	p.L2427Q	2
MTOR	UCEC	chr1	11204802	11204802	G	T	Missense_Mutation	p.S1592Y	2
MTOR	CESC	chr1	11190804	11190804	C	T	Missense_Mutation		2
MTOR	LIHC	chr1	11259619	11259619	T	C	Silent		2
MTOR	LIHC	chr1	11317016	11317016	G	-	Frame_Shift_Del	p.R160fs	2
MTOR	STAD	chr1	11301720	11301720	C	A	Missense_Mutation	p.Q477H	2
MTOR	STAD	chr1	11294235	11294235	G	-	Frame_Shift_Del	p.R766fs	2
MTOR	LUAD	chr1	11297961	11297961	C	T	Missense_Mutation	p.G716D	2
MTOR	UCEC	chr1	11301713	11301713	C	T	Missense_Mutation	p.A480T	2
MTOR	BRCA	chr1	11300583	11300583	G	C	Silent	p.L521	2
MTOR	HNSC	chr1	11186691	11186691	A	T	Missense_Mutation	p.L2172M	2
MTOR	PRAD	chr1	11169351	11169351	G	T	Silent	p.L2508L	2
MTOR	ESCA	chr1	11204705	11204705	C	A	Missense_Mutation	p.Q1624H	2
MTOR	UCEC	chr1	11206811	11206811	G	A	Silent	p.I1536	2
MTOR	LGG	chr1	11184570	11184570	A	G	Missense_Mutation		2
MTOR	LIHC	chr1	11303173	11303173	A	G	Silent	p.H470H	2
MTOR	STAD	chr1	11298633	11298633	A	C	Missense_Mutation	p.F610V	2
MTOR	STAD	chr1	11217234	11217234	G	A	Missense_Mutation	p.R1482C	2
MTOR	CESC	chr1	11168296	11168296	C	T	Missense_Mutation		2
MTOR	STAD	chr1	11168277	11168277	G	A	Missense_Mutation	p.A2532V	2
MTOR	LUAD	chr1	11273609	11273609	C	T	Missense_Mutation	p.M1044I	2
MTOR	UCEC	chr1	11307755	11307755	C	A	Missense_Mutation	p.K384N	2
MTOR	BRCA	chr1	11319442	11319442	C	T	Missense_Mutation	p.A9T	2
MTOR	UCEC	chr1	11168337	11168337	T	C	Missense_Mutation	p.D2512G	2
MTOR	PRAD	chr1	11189830	11189830	G	C	Silent	p.S1893S	2
MTOR	SKCM	chr1	11288973	11288973	C	T	Missense_Mutation	p.D928N	2
MTOR	BLCA	chr1	11270889	11270889	G	A	Silent	p.L1212L	2
MTOR	LGG	chr1	11184641	11184641	C	T	Silent	p.L2192L	2
MTOR	LIHC	chr1	11317091	11317091	T	C	Missense_Mutation		2
MTOR	STAD	chr1	11204706	11204706	T	C	Missense_Mutation		2
MTOR	LUAD	chr1	11272478	11272478	T	C	Missense_Mutation	p.Y1151C	2
MTOR	ESCA	chr1	11206789	11206789	C	T	Missense_Mutation	p.A1544T	2
MTOR	THYM	chr1	11169741	11169741	G	A	Missense_Mutation		2
MTOR	UCEC	chr1	11206828	11206828	C	A	Nonsense_Mutation	p.E1531*	2
MTOR	LGG	chr1	11177096	11177096	C	T	Missense_Mutation		2
MTOR	LIHC	chr1	11298100	11298100	C	G	Missense_Mutation	p.D670H	2
MTOR	STAD	chr1	11303171	11303171	T	G	Missense_Mutation	p.K471T	2
MTOR	LIHC	chr1	11298100	11298100	C	G	Missense_Mutation		2
MTOR	CESC	chr1	11182129	11182129	C	A	Missense_Mutation		2
MTOR	LUAD	chr1	11194472	11194472	C	A	Missense_Mutation	p.A1728S	2
MTOR	KIRC	chr1	11190694	11190694	G	A	Silent	p.A1835A	2
MTOR	UCEC	chr1	11308098	11308098	C	T	Silent	p.K298	2
MTOR	SKCM	chr1	11190630	11190630	C	T	Missense_Mutation	p.E1857K	2
MTOR	UCEC	chr1	11187156	11187156	A	C	Missense_Mutation	p.Y2088D	2
MTOR	PRAD	chr1	11210249	11210249	T	C	Missense_Mutation	p.T1502A	2
MTOR	SKCM	chr1	11199426	11199426	G	A	Silent	p.L1689L	2
MTOR	BLCA	chr1	11184592	11184592	G	C	Missense_Mutation	p.L2209V	2
MTOR	CESC	chr1	11184646	11184646	C	G	Missense_Mutation		2
MTOR	LGG	chr1	11184570	11184570	A	G	Missense_Mutation	p.L2216P	2
MTOR	SKCM	chr1	11174416	11174416	G	A	Missense_Mutation	p.A2420V	2
MTOR	LUAD	chr1	11184600	11184600	T	C	Missense_Mutation	p.N2206S	2
MTOR	ESCA	chr1	11269374	11269374	G	T	Missense_Mutation	p.Q1266K	2
MTOR	STAD	chr1	11288788	11288788	G	A	Silent	p.F989F	2
MTOR	ESCA	chr1	11204705	11204705	C	A	Missense_Mutation		2
MTOR	PAAD	chr1	11205058	11205058	C	T	Silent		2
MTOR	KIRC	chr1	11210198	11210198	C	T	Missense_Mutation	p.A1519T	2
MTOR	UCEC	chr1	11227539	11227539	G	A	Missense_Mutation	p.A1430V	2
MTOR	SARC	chr1	11307981	11307981	G	T	Missense_Mutation		2
MTOR	BLCA	chr1	11270889	11270889	G	A	Silent		2
MTOR	LGG	chr1	11184641	11184641	C	T	Silent		2
MTOR	CESC	chr1	11184661	11184661	G	C	Missense_Mutation		2
MTOR	STAD	chr1	11181345	11181345	G	A	Silent	p.D2297D	2
MTOR	LUAD	chr1	11182094	11182094	C	T	Missense_Mutation	p.R2251Q	2
MTOR	UCEC	chr1	11316174	11316174	T	C	Missense_Mutation	p.I194V	2
MTOR	SKCM	chr1	11199412	11199412	G	A	Silent	p.H1693H	2
MTOR	KICH	chr1	11187847	11187847	A	G	Missense_Mutation	p.I2017T	2
MTOR	UCEC	chr1	11188078	11188078	C	T	Missense_Mutation	p.V2006I	2
MTOR	BLCA	chr1	11297958	11297958	C	T	Missense_Mutation	p.R717Q	2
MTOR	SKCM	chr1	11291001	11291001	G	A	Silent	p.S920S	2
MTOR	STAD	chr1	11291018	11291018	C	A	Missense_Mutation		2
MTOR	LUAD	chr1	11291433	11291433	T	C	Missense_Mutation	p.Y858C	2
MTOR	STAD	chr1	11291365	11291365	G	A	Missense_Mutation	p.R881C	2
MTOR	LUAD	chr1	11264722	11264722	C	A	Missense_Mutation	p.W1280C	2
MTOR	ESCA	chr1	11291476	11291476	G	T	Missense_Mutation		2
MTOR	GBM	chr1	11174395	11174395	A	T	Missense_Mutation		2
MTOR	PAAD	chr1	11194521	11194521	G	A	Silent		2
MTOR	UCEC	chr1	11259711	11259711	C	T	Missense_Mutation	p.D1332N	2
MTOR	SARC	chr1	11175517	11175517	G	T	Missense_Mutation		2
MTOR	STAD	chr1	11303337	11303337	T	C	Missense_Mutation	p.T416A	2
MTOR	SKCM	chr1	11298537	11298537	G	A	Missense_Mutation	p.H642Y	2
MTOR	CESC	chr1	11303244	11303244	C	G	Missense_Mutation		2
MTOR	STAD	chr1	11307985	11307985	T	C	Missense_Mutation	p.Y336C	2
MTOR	UCEC	chr1	11317122	11317122	T	G	Missense_Mutation	p.E124D	2
MTOR	UCEC	chr1	11188524	11188524	C	T	Missense_Mutation	p.R1966Q	2
MTOR	BLCA	chr1	11182125	11182125	G	A	Missense_Mutation	p.P2241S	2
MTOR	CESC	chr1	11217277	11217277	C	A	Missense_Mutation		2
MTOR	STAD	chr1	11313957	11313957	C	T	Missense_Mutation		2
MTOR	STAD	chr1	11298651	11298651	G	A	Missense_Mutation	p.R604C	2
MTOR	ESCA	chr1	11288958	11288958	C	T	Missense_Mutation		2
MTOR	PAAD	chr1	11199383	11199383	T	C	Missense_Mutation		2
MTOR	UCEC	chr1	11291090	11291090	A	C	Missense_Mutation	p.L891V	2
MTOR	SARC	chr1	11181327	11181327	C	T	Silent		2
MTOR	SKCM	chr1	11307752	11307752	G	A	Silent	p.N385N	2
MTOR	CESC	chr1	11174382	11174382	C	A	Silent		2
MTOR	STAD	chr1	11291032	11291032	C	T	Missense_Mutation	p.R910Q	2
MTOR	KIRC	chr1	11188164	11188164	G	T	Missense_Mutation	p.T1977K	2
MTOR	UCEC	chr1	11317186	11317186	C	T	Missense_Mutation	p.R103Q	2
MTOR	SKCM	chr1	11186741	11186741	G	A	Missense_Mutation	p.S2155F	2
MTOR	UCEC	chr1	11189847	11189847	A	C	Missense_Mutation	p.F1888V	2
MTOR	KIRP	chr1	11307790	11307790	C	A	Missense_Mutation	p.V373L	2
MTOR	CESC	chr1	11188155	11188155	G	C	Missense_Mutation		2
MTOR	SKCM	chr1	11273516	11273516	G	A	Silent	p.I1075I	2
MTOR	STAD	chr1	11182172	11182172	T	C	Missense_Mutation		2
MTOR	CESC	chr1	11181396	11181396	C	T	Silent	p.L2280	2
MTOR	ESCA	chr1	11292543	11292543	T	C	Missense_Mutation		2
MTOR	PAAD	chr1	11270930	11270930	G	T	Missense_Mutation		2
MTOR	UCEC	chr1	11292504	11292504	C	A	Missense_Mutation	p.A835S	2
MTOR	STAD	chr1	11300580	11300580	G	A	Silent	p.Y522Y	2
MTOR	SKCM	chr1	11307753	11307753	T	A	Missense_Mutation	p.N385I	2
MTOR	PCPG	chr1	11169377	11169377	T	A	Missense_Mutation		2
MTOR	UCEC	chr1	11318549	11318549	C	T	Silent	p.L88	2
MTOR	SKCM	chr1	11303281	11303281	G	A	Silent	p.F434F	2
MTOR	KIRC	chr1	11217303	11217303	C	G	Missense_Mutation	p.A1459P	2
MTOR	UCEC	chr1	11193150	11193150	C	T	Missense_Mutation	p.R1784H	2
MTOR	LIHC	chr1	11317091	11317091	T	C	Missense_Mutation	p.M135V	2
MTOR	ESCA	chr1	11300513	11300513	G	T	Missense_Mutation	p.L545M	2
MTOR	STAD	chr1	11204730	11204730	C	T	Missense_Mutation	p.R1616H	2
MTOR	ESCA	chr1	11298501	11298501	C	G	Missense_Mutation	p.D654H	2
MTOR	PAAD	chr1	11317062	11317062	G	A	Silent		2
MTOR	KIRC	chr1	11217322	11217322	T	A	Missense_Mutation	p.K1452N	2
MTOR	UCEC	chr1	11294212	11294212	C	A	Missense_Mutation	p.E773D	2
MTOR	LIHC	chr1	11272375	11272375	C	-	Frame_Shift_Del	p.G1185fs	2
MTOR	STAD	chr1	11313937	11313937	T	C	Missense_Mutation	p.I267V	2
MTOR	UVM	chr1	11169412	11169412	A	C	Missense_Mutation		2
MTOR	SKCM	chr1	11300598	11300598	G	A	Silent	p.A516A	2
MTOR	SKCM	chr1	11316081	11316081	G	A	Missense_Mutation	p.P225S	2
MTOR	CESC	chr1	11188178	11188178	G	A	Silent		2
MTOR	ESCA	chr1	11181417	11181417	C	A	Silent	p.P2273	1
MTOR	STAD	chr1	11270918	11270918	G	A	Nonsense_Mutation		1
MTOR	LUSC	chr1	11298013	11298013	C	G	Missense_Mutation	p.A699P	1
MTOR	OV	chr1	11195520	11195520	G	C	Missense_Mutation		1
MTOR	KIRC	chr1	11307913	11307913	C	T	Missense_Mutation	p.R360Q	1
MTOR	SARC	chr1	11187176	11187176	G	T	Missense_Mutation		1
MTOR	BLCA	chr1	11288890	11288890	C	G	Silent	p.L955L	1
MTOR	LGG	chr1	11181326	11181326	A	G	Missense_Mutation	p.W2304R	1
MTOR	CESC	chr1	11182129	11182129	C	A	Missense_Mutation	p.W2239C	1
MTOR	LGG	chr1	11181326	11181326	A	G	Missense_Mutation		1
MTOR	SKCM	chr1	11204735	11204735	G	A	Silent	p.I1614I	1
MTOR	LIHC	chr1	11174400	11174400	G	-	Frame_Shift_Del	p.P2425fs	1
MTOR	STAD	chr1	11273546	11273547	-	C	Frame_Shift_Ins	p.G1065fs	1
MTOR	HNSC	chr1	11206848	11206848	C	A	Missense_Mutation		1
MTOR	PAAD	chr1	11193143	11193143	C	G	Missense_Mutation		1
MTOR	KIRC	chr1	11217290	11217290	T	G	Missense_Mutation	p.Y1463S	1
MTOR	SARC	chr1	11317069	11317069	G	T	Missense_Mutation		1
MTOR	BLCA	chr1	11319377	11319377	C	G	Missense_Mutation		1
MTOR	HNSC	chr1	11206848	11206848	C	A	Splice_Site	p.G1524_splice	1
MTOR	PRAD	chr1	11190690	11190690	T	C	Missense_Mutation	p.T1837A	1
MTOR	LIHC	chr1	11301615	11301615	T	C	Silent		1
MTOR	SKCM	chr1	11288813	11288813	G	A	Missense_Mutation	p.S981F	1
MTOR	LUAD	chr1	11270872	11270872	T	A	Splice_Site	p.K1218_splice	1
MTOR	STAD	chr1	11204807	11204807	C	G	Missense_Mutation	p.M1590I	1
MTOR	LUAD	chr1	11181321	11181321	C	T	Silent	p.L2305L	1
MTOR	CESC	chr1	11188178	11188178	G	A	Silent	p.L1972	1
MTOR	LUAD	chr1	11174929	11174929	C	T	Missense_Mutation	p.E2369K	1
MTOR	THCA	chr1	11301714	11301714	A	G	Silent		1
MTOR	LUSC	chr1	11193214	11193214	C	A	Missense_Mutation	p.G1763C	1
MTOR	OV	chr1	11195530	11195530	A	T	Missense_Mutation		1
MTOR	KIRC	chr1	11168294	11168294	C	T	Silent	p.E2526E	1
MTOR	SARC	chr1	11193149	11193149	G	T	Silent		1
MTOR	BLCA	chr1	11190666	11190666	C	T	Missense_Mutation	p.E1845K	1
MTOR	LGG	chr1	11182139	11182139	A	T	Missense_Mutation	p.L2236H	1
MTOR	LIHC	chr1	11316988	11316988	A	T	Splice_Site	.	1
MTOR	SKCM	chr1	11190632	11190632	G	A	Missense_Mutation	p.T1856I	1
MTOR	STAD	chr1	11308151	11308151	G	A	Missense_Mutation	p.R281C	1
MTOR	LIHC	chr1	11187123	11187123	G	-	Frame_Shift_Del	p.Q2099fs	1
MTOR	COAD	chr1	11227537	11227537	C	T	Missense_Mutation	p.G1431R	1
MTOR	THYM	chr1	11264654	11264654	C	T	Missense_Mutation	p.C1303Y	1
MTOR	HNSC	chr1	11297982	11297982	T	C	Missense_Mutation		1
MTOR	PAAD	chr1	11317186	11317186	C	A	Missense_Mutation		1
MTOR	SARC	chr1	11194456	11194456	G	T	Missense_Mutation		1
MTOR	BLCA	chr1	11308146	11308146	C	G	Silent		1
MTOR	HNSC	chr1	11187151	11187151	C	T	Missense_Mutation	p.M2089I	1
MTOR	PRAD	chr1	11259693	11259693	T	G	Missense_Mutation	p.I1338L	1
MTOR	SKCM	chr1	11319449	11319449	A	C	Silent	p.P6P	1
MTOR	CESC	chr1	11168296	11168296	C	T	Missense_Mutation	p.E2526K	1
MTOR	DLBC	chr1	11188142	11188142	C	T	Silent	p.T1984T	1
MTOR	STAD	chr1	11184640	11184640	G	A	Missense_Mutation	p.R2193C	1
MTOR	LUAD	chr1	11217213	11217213	C	A	Nonsense_Mutation	p.E1489*	1
MTOR	UCEC	chr1	11308115	11308115	G	T	Missense_Mutation	p.Q293K	1
MTOR	CESC	chr1	11303244	11303244	C	G	Missense_Mutation	p.E447Q	1
MTOR	LUAD	chr1	11292494	11292494	T	A	Splice_Site	p.Q838_splice	1
MTOR	THYM	chr1	11182049	11182049	C	T	Missense_Mutation		1
MTOR	LUSC	chr1	11193215	11193215	C	G	Missense_Mutation	p.Q1762H	1
MTOR	UCEC	chr1	11259696	11259696	G	T	Missense_Mutation	p.L1337I	1
MTOR	ESCA	chr1	11204705	11204705	C	A	Splice_Site	p.Q1624_splice	1
MTOR	OV	chr1	11213970	11213970	C	T	Missense_Mutation		1
MTOR	SARC	chr1	11199441	11199441	G	T	Missense_Mutation		1
MTOR	BLCA	chr1	11269465	11269465	C	T	Silent	p.R1235R	1
MTOR	LGG	chr1	11205086	11205086	C	A	Missense_Mutation	p.R1568M	1
MTOR	LIHC	chr1	11264717	11264718	-	C	Frame_Shift_Ins	p.E1282fs	1
MTOR	LIHC	chr1	11181340	11181340	A	G	Missense_Mutation		1
MTOR	SKCM	chr1	11187740	11187740	G	C	Missense_Mutation	p.P2053A	1
MTOR	LIHC	chr1	11189877	11189877	G	-	Frame_Shift_Del	p.L1878fs	1
MTOR	COAD	chr1	11227551	11227551	G	A	Missense_Mutation	p.P1426L	1
MTOR	THYM	chr1	11181422	11181422	C	T	Missense_Mutation	p.A2272T	1
MTOR	HNSC	chr1	11298657	11298657	A	G	Missense_Mutation		1
MTOR	SARC	chr1	11300555	11300555	G	T	Missense_Mutation	p.L531I	1
MTOR	BLCA	chr1	11288890	11288890	C	G	Silent		1
MTOR	HNSC	chr1	11199700	11199700	C	T	Missense_Mutation	p.V1630I	1
MTOR	PRAD	chr1	11269467	11269467	G	A	Missense_Mutation	p.R1235W	1
MTOR	KIRC	chr1	11182163	11182163	A	G	Missense_Mutation	p.I2228T	1
MTOR	BLCA	chr1	11187854	11187854	C	G	Missense_Mutation		1
MTOR	KIRP	chr1	11307790	11307790	C	A	Missense_Mutation		1
MTOR	LIHC	chr1	11187726	11187726	C	A	Missense_Mutation		1
MTOR	SKCM	chr1	11186743	11186743	C	T	Silent	p.Q2154Q	1
MTOR	LUAD	chr1	11319410	11319410	C	A	Silent	p.V19V	1
MTOR	STAD	chr1	11204707	11204707	G	A	Nonsense_Mutation	p.Q1624*	1
MTOR	LUAD	chr1	11199668	11199668	C	A	Silent	p.R1640R	1
MTOR	UCEC	chr1	11188564	11188564	C	A	Missense_Mutation	p.V1953L	1
MTOR	LUAD	chr1	11316162	11316162	C	A	Missense_Mutation	p.V198L	1
MTOR	ESCA	chr1	11269374	11269374	G	T	Missense_Mutation		1
MTOR	LUSC	chr1	11259718	11259718	C	G	Silent	p.L1329L	1
MTOR	OV	chr1	11307883	11307883	A	T	Missense_Mutation	p.F370Y	1
MTOR	SARC	chr1	11227552	11227552	G	T	Missense_Mutation		1
MTOR	BLCA	chr1	11190601	11190601	C	G	Missense_Mutation	p.Q1866H	1
MTOR	LGG	chr1	11303331	11303331	T	C	Missense_Mutation	p.N418D	1
MTOR	SKCM	chr1	11169428	11169428	C	A	Splice_Site		1
MTOR	STAD	chr1	11270918	11270918	G	A	Nonsense_Mutation	p.R1203X	1
MTOR	SKCM	chr1	11316216	11316216	G	A	Missense_Mutation	p.P180S	1
MTOR	LIHC	chr1	11269443	11269443	C	-	Frame_Shift_Del	p.D1243fs	1
MTOR	COAD	chr1	11269439	11269439	G	T	Missense_Mutation	p.A1244E	1
MTOR	THYM	chr1	11193212	11193212	G	A	Silent	p.G1763G	1
MTOR	HNSC	chr1	11186691	11186691	A	T	Missense_Mutation		1
MTOR	KIRC	chr1	11174459	11174459	C	T	Missense_Mutation	p.V2406M	1
MTOR	SARC	chr1	11190622	11190622	G	T	Missense_Mutation		1
MTOR	BLCA	chr1	11269480	11269480	C	A	Missense_Mutation		1
MTOR	KIRC	chr1	11174411	11174411	C	T	Missense_Mutation	p.V2422I	1
MTOR	SKCM	chr1	11169428	11169428	C	A	Splice_Site	.	1
MTOR	BLCA	chr1	11288788	11288788	G	T	Missense_Mutation		1
MTOR	KIRP	chr1	11273603	11273603	G	C	Silent		1
MTOR	LIHC	chr1	11272431	11272431	G	T	Missense_Mutation		1
MTOR	SKCM	chr1	11199701	11199701	G	A	Silent	p.I1629I	1
MTOR	CESC	chr1	11184661	11184661	G	C	Missense_Mutation	p.L2186V	1
MTOR	LUAD	chr1	11270888	11270888	T	C	Missense_Mutation	p.I1213V	1
MTOR	STAD	chr1	11297944	11297944	T	C	Missense_Mutation	p.N722D	1
MTOR	LUAD	chr1	11317216	11317217	-	G	Frame_Shift_Ins	p.H93fs	1
MTOR	COAD	chr1	11182179	11182179	G	T	Missense_Mutation	p.Q2223K	1
MTOR	LUAD	chr1	11181350	11181350	C	A	Missense_Mutation	p.G2296W	1
MTOR	ESCA	chr1	11206789	11206789	C	T	Missense_Mutation		1
MTOR	THYM	chr1	11205033	11205033	C	T	Missense_Mutation		1
MTOR	LUSC	chr1	11297936	11297936	G	A	Silent	p.A724A	1
MTOR	GBM	chr1	11217231	11217231	A	G	Missense_Mutation	p.C1483R	1
MTOR	KIRC	chr1	11217230	11217230	C	T	Missense_Mutation	p.C1483Y	1
MTOR	SARC	chr1	11264621	11264621	G	T	Missense_Mutation		1
MTOR	BLCA	chr1	11186835	11186835	G	A	Nonsense_Mutation	p.Q2124*	1
MTOR	SKCM	chr1	11298094	11298094	G	A	Missense_Mutation	p.R672C	1
MTOR	LIHC	chr1	11188599	11188599	T	C	Missense_Mutation		1
MTOR	SKCM	chr1	11227549	11227549	C	T	Missense_Mutation	p.E1427K	1
MTOR	LIHC	chr1	11175468	11175468	A	-	Frame_Shift_Del	p.F2358fs	1
MTOR	LIHC	chr1	11291080	11291080	A	-	Frame_Shift_Del	p.L894fs	1
MTOR	COAD	chr1	11273503	11273503	G	A	Missense_Mutation	p.R1080C	1
MTOR	THYM	chr1	11188525	11188525	G	T	Silent	p.R1966R	1
MTOR	HNSC	chr1	11189816	11189816	T	C	Missense_Mutation		1
MTOR	KIRC	chr1	11184589	11184589	C	G	Missense_Mutation	p.A2210P	1
MTOR	SARC	chr1	11174523	11174523	C	G	RNA	NULL	1
MTOR	BLCA	chr1	11190666	11190666	C	T	Missense_Mutation		1
MTOR	HNSC	chr1	11206848	11206848	C	A	Missense_Mutation	p.G1524V	1
MTOR	KIRC	chr1	11217289	11217289	A	G	Silent	p.Y1463Y	1
MTOR	CESC	chr1	11217277	11217277	C	A	Missense_Mutation	p.M1467I	1
MTOR	STAD	chr1	11291474	11291474	C	A	Silent	p.L844L	1
MTOR	LUAD	chr1	11227550	11227550	C	G	Silent	p.P1426P	1
MTOR	LUAD	chr1	11217283	11217283	C	G	Missense_Mutation	p.K1465N	1
MTOR	ESCA	chr1	11300513	11300513	G	T	Missense_Mutation		1
MTOR	LUSC	chr1	11318609	11318609	G	C	Missense_Mutation	p.N68K	1
MTOR	GBM	chr1	11188183	11188183	C	T	Missense_Mutation	p.A1971_splice	1
MTOR	OV	chr1	11319346	11319346	C	A	Missense_Mutation	p.A41S	1
MTOR	KIRC	chr1	11307892	11307892	T	A	Missense_Mutation	p.E367V	1
MTOR	SARC	chr1	11300555	11300555	G	T	Missense_Mutation		1
MTOR	BLCA	chr1	11194509	11194509	C	T	Silent	p.Q1715Q	1
MTOR	SKCM	chr1	11189000	11189000	G	A	Missense_Mutation	p.T1908I	1
MTOR	SKCM	chr1	11307930	11307930	G	A	Silent	p.S354S	1
MTOR	LIHC	chr1	11270927	11270927	C	-	Frame_Shift_Del	p.V1200fs	1
MTOR	LIHC	chr1	11184561	11184561	T	-	Frame_Shift_Del	p.N2219fs	1
MTOR	COAD	chr1	11273507	11273507	C	T	Missense_Mutation	p.M1078I	1
MTOR	STAD	chr1	11175526	11175526	C	A	Splice_Site	.	1
MTOR	THYM	chr1	11184588	11184588	G	A	Missense_Mutation	p.A2210V	1
MTOR	HNSC	chr1	11288856	11288856	G	A	Missense_Mutation		1
MTOR	BLCA	chr1	11269465	11269465	C	T	Silent		1
MTOR	KICH	chr1	11187847	11187847	A	G	Missense_Mutation		1
MTOR	KIRC	chr1	11217230	11217230	C	A	Missense_Mutation	p.C1483F	1
MTOR	LIHC	chr1	11188543	11188543	G	T	Missense_Mutation		1
MTOR	STAD	chr1	11273588	11273588	C	T	Silent		1
MTOR	CESC	chr1	11273502	11273502	C	G	Missense_Mutation	p.R1080P	1
MTOR	STAD	chr1	11303205	11303205	G	A	Nonsense_Mutation	p.R460*	1
MTOR	LUAD	chr1	11298459	11298459	C	A	Missense_Mutation	p.D668Y	1
MTOR	COAD	chr1	11187710	11187710	G	-	Frame_Shift_Del	p.Q2063fs	1
MTOR	LUAD	chr1	11319445	11319445	C	A	Missense_Mutation	p.A8S	1
MTOR	THYM	chr1	11316154	11316154	G	T	Missense_Mutation		1
MTOR	LUSC	chr1	11187830	11187830	A	C	Missense_Mutation	p.W2023G	1
MTOR	GBM	chr1	11259324	11259324	G	A	Missense_Mutation		1
MTOR	BLCA	chr1	11187752	11187752	C	T	Missense_Mutation	p.E2049K	1
MTOR	SKCM	chr1	11317043	11317043	G	T	Silent	p.R151R	1
MTOR	LIHC	chr1	11301649	11301649	A	T	Missense_Mutation	p.I501N	1
MTOR	STAD	chr1	11303205	11303205	G	A	Nonsense_Mutation	p.R460X	1
MTOR	LIHC	chr1	11303356	11303356	A	G	Silent		1
MTOR	SKCM	chr1	11317187	11317187	G	C	Missense_Mutation	p.R103G	1
MTOR	LIHC	chr1	11272384	11272384	A	-	Frame_Shift_Del	p.F1182fs	1
MTOR	LIHC	chr1	11297983	11297983	C	-	Frame_Shift_Del	p.E709fs	1
MTOR	COAD	chr1	11276215	11276215	G	T	Missense_Mutation	p.T1036N	1
MTOR	THYM	chr1	11168267	11168267	A	T	Missense_Mutation	p.H2535Q	1
MTOR	BLCA	chr1	11189822	11189822	C	T	Missense_Mutation		1
MTOR	PRAD	chr1	11294298	11294298	C	A	Missense_Mutation	p.G745W	1
MTOR	KIRC	chr1	11217304	11217305	-	TCCTCCCAC	In_Frame_Ins	p.1458_1459insGRS	1
MTOR	CESC	chr1	11182063	11182063	G	C	Silent		1
MTOR	LGG	chr1	11182158	11182158	A	C	Missense_Mutation	p.L2230V	1
MTOR	LIHC	chr1	11186822	11186822	G	A	Missense_Mutation	p.P2128L	1
MTOR	CESC	chr1	11174382	11174382	C	A	Silent	p.L2431	1
MTOR	STAD	chr1	11188135	11188135	G	A	Missense_Mutation	p.R1987W	1
MTOR	LUAD	chr1	11291373	11291373	T	G	Missense_Mutation	p.Q878P	1
MTOR	COAD	chr1	11188983	11188983	C	A	Missense_Mutation	p.G1914C	1
MTOR	THYM	chr1	11182122	11182122	G	T	Missense_Mutation		1
MTOR	LUSC	chr1	11307700	11307700	G	A	Nonsense_Mutation	p.R403*	1
MTOR	KIRC	chr1	11187799	11187799	T	A	Missense_Mutation	p.E2033V	1
MTOR	BLCA	chr1	11184592	11184592	G	C	Missense_Mutation		1
MTOR	LGG	chr1	11182139	11182139	A	T	Missense_Mutation		1
MTOR	SKCM	chr1	11264758	11264758	G	A	Silent	p.A1268A	1
MTOR	LIHC	chr1	11259619	11259619	T	C	Silent	p.E1362E	1
MTOR	BLCA	chr1	11190601	11190601	C	G	Missense_Mutation		1
MTOR	SKCM	chr1	11194431	11194431	C	T	Silent	p.Q1741Q	1
MTOR	LIHC	chr1	11272487	11272487	A	-	Frame_Shift_Del	p.F1148fs	1
MTOR	LIHC	chr1	11301683	11301683	C	-	Frame_Shift_Del	p.A490fs	1
MTOR	COAD	chr1	11292544	11292544	A	-	Frame_Shift_Del	p.I822fs	1
MTOR	LUAD	chr1	11300470	11300470	T	A	Missense_Mutation	p.K559M	1
MTOR	THYM	chr1	11316055	11316055	C	A	Missense_Mutation	p.W233C	1
MTOR	PAAD	chr1	11291104	11291104	C	T	Missense_Mutation	p.R886H	1
MTOR	KIRC	chr1	11177077	11177077	A	C	Missense_Mutation	p.L2334V	1
MTOR	KICH	chr1	11174395	11174395	A	C	Missense_Mutation	p.L2427R	1
MTOR	SARC	chr1	11303317	11303317	G	T	Missense_Mutation		1
MTOR	KIRC	chr1	11174381	11174386	TCAGCC	-	In_Frame_Del	p.RLM2430del	1
MTOR	LGG	chr1	11293482	11293482	G	A	Silent	p.V798V	1
MTOR	CESC	chr1	11174420	11174420	C	T	Missense_Mutation	p.E2419K	1
MTOR	STAD	chr1	11175526	11175526	C	A	Splice_Site	p.R2339_splice	1
MTOR	LUSC	chr1	11297904	11297904	A	C	Missense_Mutation	p.I735S	1
MTOR	THYM	chr1	11319387	11319387	C	T	Missense_Mutation		1
MTOR	HNSC	chr1	11199700	11199700	C	T	Missense_Mutation		1
MTOR	KIRC	chr1	11272448	11272448	C	T	Missense_Mutation	p.R1161Q	1
MTOR	BLCA	chr1	11297958	11297958	C	T	Missense_Mutation		1
MTOR	BLCA	chr1	11187752	11187752	C	G	Missense_Mutation	p.E2049Q	1
MTOR	LGG	chr1	11205086	11205086	C	A	Missense_Mutation		1
MTOR	SKCM	chr1	11300400	11300400	G	A	Silent	p.I582I	1
MTOR	LIHC	chr1	11186678	11186678	C	-	Splice_Site		1
MTOR	STAD	chr1	11204707	11204707	G	A	Nonsense_Mutation	p.Q1624X	1
MTOR	BLCA	chr1	11259718	11259718	C	G	Silent		1
MTOR	LIHC	chr1	11175463	11175463	T	C	Missense_Mutation		1
MTOR	SKCM	chr1	11190724	11190724	G	A	Silent	p.I1825I	1
MTOR	LIHC	chr1	11273530	11273530	G	-	Frame_Shift_Del	p.L1071fs	1
MTOR	LUAD	chr1	11175493	11175493	C	A	Missense_Mutation	p.S2350I	1
MTOR	COAD	chr1	11298020	11298020	C	A	Missense_Mutation	p.L696F	1
MTOR	LUAD	chr1	11298523	11298523	C	G	Missense_Mutation	p.Q646H	1
MTOR	UCEC	chr1	11174405	11174405	C	G	Missense_Mutation	p.D2424H	1
MTOR	HNSC	chr1	11319340	11319340	C	A	Nonsense_Mutation	p.E43*	1
MTOR	PAAD	chr1	11269497	11269497	C	T	Missense_Mutation	p.E1225K	1
MTOR	LUSC	chr1	11217271	11217271	G	T	Silent	p.T1469T	1
MTOR	KIRC	chr1	11319454	11319454	C	G	Missense_Mutation	p.G5R	1
MTOR	SARC	chr1	11169400	11169400	G	T	Missense_Mutation		1
MTOR	BLCA	chr1	11319377	11319377	C	G	Missense_Mutation	p.K30N	1
MTOR	LGG	chr1	11291407	11291407	C	T	Missense_Mutation	p.V867M	1
MTOR	LIHC	chr1	11301615	11301615	T	C	Silent	p.G512G	1
MTOR	STAD	chr1	11190747	11190747	G	A	Missense_Mutation	p.R1818C	1
MTOR	LUSC	chr1	11298641	11298641	G	A	Missense_Mutation	p.A607V	1
MTOR	COAD	chr1	11190824	11190824	G	A	Missense_Mutation	p.A1792V	1
MTOR	LUAD	chr1	11227545	11227545	G	A	Missense_Mutation	p.A1428V	1
MTOR	THYM	chr1	11319387	11319387	C	T	Missense_Mutation	p.S27N	1
MTOR	HNSC	chr1	11298591	11298591	G	A	Missense_Mutation		1
MTOR	SARC	chr1	11259696	11259696	G	T	Missense_Mutation		1
MTOR	BLCA	chr1	11189857	11189857	G	T	Silent		1
MTOR	BLCA	chr1	11187854	11187854	C	G	Missense_Mutation	p.E2015Q	1
MTOR	LGG	chr1	11210234	11210234	C	A	Nonsense_Mutation		1
MTOR	SKCM	chr1	11174428	11174428	G	A	Missense_Mutation	p.A2416V	1
MTOR	LIHC	chr1	11259739	11259739	A	-	Frame_Shift_Del	p.F1322fs	1
MTOR	BLCA	chr1	11194509	11194509	C	T	Silent		1
MTOR	LIHC	chr1	11204794	11204794	T	C	Missense_Mutation		1
MTOR	SKCM	chr1	11186825	11186825	G	A	Missense_Mutation	p.S2127F	1
MTOR	CESC	chr1	11172948	11172948	G	T	Silent		1
MTOR	LUAD	chr1	11313974	11313974	G	T	Silent	p.G254G	1
MTOR	COAD	chr1	11313987	11313987	G	A	Missense_Mutation	p.A250V	1
MTOR	STAD	chr1	11204706	11204706	T	C	Splice_Site	p.Q1624_splice	1
MTOR	LUAD	chr1	11303213	11303213	T	C	Missense_Mutation	p.D457G	1
MTOR	UCEC	chr1	11308098	11308098	C	T	Silent	p.K298K	1
MTOR	HNSC	chr1	11189816	11189816	T	C	Missense_Mutation	p.N1898S	1
MTOR	KIRC	chr1	11174381	11174386	TCAGCC	-	In_Frame_Del	p.2430_2432del	1
MTOR	MESO	chr1	11298070	11298070	C	A	Missense_Mutation		1
MTOR	SARC	chr1	11186760	11186760	G	T	Missense_Mutation		1
MTOR	KIRP	chr1	11269473	11269473	G	T	Missense_Mutation	p.Q1233K	1
MTOR	BLCA	chr1	11308146	11308146	C	G	Silent	p.L282L	1
MTOR	CESC	chr1	11273547	11273547	C	-	Frame_Shift_Del		1
MTOR	LGG	chr1	11259444	11259444	C	T	Missense_Mutation	p.R1375K	1
MTOR	SKCM	chr1	11188075	11188075	G	A	Nonsense_Mutation	p.Q2007X	1
MTOR	CESC	chr1	11182063	11182063	G	C	Silent	p.L2261	1
MTOR	LUAD	chr1	11318596	11318596	C	G	Missense_Mutation	p.E73Q	1
MTOR	STAD	chr1	11273547	11273548	-	C	Frame_Shift_Ins	p.G1065fs	1
MTOR	LUSC	chr1	11181422	11181422	C	A	Missense_Mutation	p.A2272S	1
MTOR	UCEC	chr1	11168301	11168301	T	A	Missense_Mutation	p.Q2524L	1
MTOR	LIHC	chr1	11294318	11294318	A	-	Frame_Shift_Del	p.L738fs	1
MTOR	COAD	chr1	11205059	11205059	G	A	Missense_Mutation	p.A1577V	1
MTOR	LUAD	chr1	11298459	11298459	C	A	Splice_Site	p.D668_splice	1
MTOR	THYM	chr1	11298580	11298580	G	T	Silent	p.S627S	1
MTOR	HNSC	chr1	11187151	11187151	C	T	Missense_Mutation		1
MTOR	SARC	chr1	11300403	11300403	G	T	Missense_Mutation		1
MTOR	BLCA	chr1	11288788	11288788	G	T	Missense_Mutation	p.F989L	1
MTOR	LGG	chr1	11182158	11182158	A	C	Missense_Mutation		1
MTOR	SKCM	chr1	11188075	11188075	G	A	Nonsense_Mutation	p.Q2007*	1
MTOR	BLCA	chr1	11301693	11301693	G	A	Silent		1
MTOR	LIHC	chr1	11291080	11291080	A	-	Frame_Shift_Del		1
MTOR	SKCM	chr1	11189808	11189808	G	A	Nonsense_Mutation	p.Q1901*	1
MTOR	LUAD	chr1	11181391	11181391	T	C	Missense_Mutation	p.Q2282R	1
MTOR	COAD	chr1	11319406	11319406	C	T	Missense_Mutation	p.V21I	1
MTOR	STAD	chr1	11308151	11308151	G	A	Splice_Site	p.R281_splice	1
MTOR	LUAD	chr1	11288728	11288728	C	A	Silent	p.R1009R	1
MTOR	HNSC	chr1	11288856	11288856	G	A	Missense_Mutation	p.H967Y	1
MTOR	PRAD	chr1	11190607	11190607	C	T	Silent	p.P1864P	1
MTOR	KIRC	chr1	11298606	11298606	G	A	Missense_Mutation	p.R619C	1

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

Fusion gene breakpoints (product of the structural variants (SVs)) across MTOR
* 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
100330	STAD	TCGA-CG-5720	ACOT11	chr1	55065088	+	MTOR	chr1	11188609	-
100330	STAD	TCGA-B7-5818-01A	ADARB1	chr21	46494708	+	MTOR	chr1	11227574	-
100330	STAD	TCGA-BR-8297-01A	CASZ1	chr1	10856621	-	MTOR	chr1	11190834	-
100330	STAD	TCGA-BR-8590	CASZ1	chr1	10765548	-	MTOR	chr1	11288975	-
100330	STAD	TCGA-BR-8590-01A	CASZ1	chr1	10765549	-	MTOR	chr1	11288975	-
100330	UCEC	TCGA-A5-A7WK-01A	CASZ1	chr1	10698772	-	MTOR	chr1	11259760	-
100330	LAML	TCGA-AB-2939	CHD1	chr5	98199111	-	MTOR	chr1	11273623	-
100330	LAML	TCGA-AB-2939-03A	CHD1	chr5	98199112	-	MTOR	chr1	11273623	-
100330	LAML	TCGA-AB-2939_61FFWAAXX_7	CHD1	chr5	98204199	-	MTOR	chr1	11273623	-
100330	LUAD	TCGA-MP-A4SW-01A	DDI2	chr1	15944303	+	MTOR	chr1	11227574	-
100330	ACC	TCGA-OR-A5J7-01A	EXOSC10	chr1	11139768	-	MTOR	chr1	11190834	-
100330	BRCA	TCGA-E9-A244-01A	EXOSC10	chr1	11140556	-	MTOR	chr1	11177143	-
100330	UCEC	TCGA-D1-A3JQ-01A	KAZN	chr1	15251068	+	MTOR	chr1	11206848	-
102522	STAD	TCGA-HU-A4GT-01A	MTOR	chr1	11194408	-	AGR2	chr7	16832581	-
99549	GBM	TCGA-32-5222	MTOR	chr1	11313895	-	CAMTA1	chr1	6880240	+
99549	GBM	TCGA-32-5222-01A	MTOR	chr1	11313896	-	CAMTA1	chr1	6880241	+
97518	BRCA	TCGA-A2-A0YE-01A	MTOR	chr1	11259315	-	CDC42	chr1	22404922	+
55852	LGG	TCGA-HT-A5RA-01A	MTOR	chr1	11288725	-	CR1	chr1	207684914	+
62813	LGG	TCGA-HT-A5RA-01A	MTOR	chr1	11288725	-	CR1L	chr1	207857217	+
98814	UCEC	TCGA-EY-A210	MTOR	chr1	11217208	-	GARNL3	chr9	130151182	+
98814	UCEC	TCGA-EY-A210-01A	MTOR	chr1	11217209	-	GARNL3	chr9	130151183	+
55852	N/A	BM193281	MTOR	chr1	11167381	+	GML	chr8	143945579	-
78281	N/A	BE149450	MTOR	chr1	11315075	+	LIPE-AS1	chr19	42905110	+
85582	UCS	TCGA-NA-A4QX	MTOR	chr1	11227498	-	MAD2L2	chr1	11740670	-
85582	UCS	TCGA-NA-A4QX-01A	MTOR	chr1	11227499	-	MAD2L2	chr1	11740670	-
100330	N/A	BE830802	MTOR	chr1	11186756	-	MTOR	chr1	11182129	+
55852	N/A	BE380007	MTOR	chr1	11184403	-	SOCS4	chr14	55514896	+
100330	N/A	DB084769	OCIAD1	chr4	48850463	+	MTOR	chr1	11194523	-
100330	N/A	BF845885	RASGEF1B	chr4	82365981	-	MTOR	chr1	11317919	-
100330	OV	TCGA-24-2262	SRM	chr1	11118856	-	MTOR	chr1	11227574	-
100330	OV	TCGA-24-2262-01A	SRM	chr1	11118857	-	MTOR	chr1	11227574	-
100330	STAD	TCGA-BR-4357-01A	ZBTB17	chr1	16269559	-	MTOR	chr1	11227574	-

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Prognostic Analysis

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

Cancer type

Translation factor

Coefficent

Hazard ratio

Wald test pval

Likelihool ratio pval

Logrank test pval

# samples

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Translation factor and Gender

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

Cancer type	Translation factor	pval	adj.p
KIRP	MTOR	0.0389240638966373	1
LAML	MTOR	0.0454678704046692	1
TGCT	MTOR	1.98826479052136e-06	5.6e-05

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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
LGG	MTOR	5.14915537636853e-05	0.0017
BRCA	MTOR	0.00067540818208823	0.022

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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
P42345	DB00337	Pimecrolimus	Potentiator	Small molecule	Approved\|Investigational
P42345	DB00877	Sirolimus	Inhibitor	Small molecule	Approved\|Investigational
P42345	DB01590	Everolimus	Inhibitor	Small molecule	Approved
P42345	DB04974	Rimiducid	Ligand	Small molecule	Investigational
P42345	DB05210	SF1126		Small molecule	Investigational
P42345	DB05241	XL765		Small molecule	Investigational
P42345	DB06233	Ridaforolimus		Small molecule	Investigational
P42345	DB06287	Temsirolimus	Inhibitor	Small molecule	Approved
P42345	DB00337	Pimecrolimus	Potentiator
P42345	DB00877	Sirolimus	Inhibitor
P42345	DB01590	Everolimus	Inhibitor
P42345	DB04974	Rimiducid	Ligand
P42345	DB05210	SF1126
P42345	DB05241	XL765
P42345	DB06233	Ridaforolimus
P42345	DB06287	Temsirolimus	Inhibitor

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Related Diseases

Diseases associated with this translation factor.
(DisGeNet 4.0)

Disease ID	Disease Name	# PubMeds	Disease source
C1846385	FOCAL CORTICAL DYSPLASIA OF TAYLOR	5	CTD_human;GENOMICS_ENGLAND;UNIPROT
C4225259	SMITH-KINGSMORE SYNDROME	5	GENOMICS_ENGLAND;ORPHANET;UNIPROT
C0041696	Unipolar Depression	2	PSYGENET
C0919267	ovarian neoplasm	2	CTD_human
C1140680	Malignant neoplasm of ovary	2	CTD_human
C1269683	Major Depressive Disorder	2	PSYGENET
C0006142	Malignant neoplasm of breast	1	CTD_human
C0007102	Malignant tumor of colon	1	CTD_human
C0007131	Non-Small Cell Lung Carcinoma	1	CTD_human
C0007134	Renal Cell Carcinoma	1	CTD_human
C0007873	Uterine Cervical Neoplasm	1	CTD_human
C0017636	Glioblastoma	1	CTD_human
C0024232	Lymphatic Metastasis	1	CTD_human
C0025500	Mesothelioma	1	CTD_human
C0034069	Pulmonary Fibrosis	1	CTD_human
C0036341	Schizophrenia	1	CTD_human
C0149504	Encephalopathy, Toxic	1	CTD_human
C0149721	Left Ventricular Hypertrophy	1	CTD_human
C0154659	Toxic Encephalitis	1	CTD_human
C0205641	Adenocarcinoma, Basal Cell	1	CTD_human
C0205642	Adenocarcinoma, Oxyphilic	1	CTD_human
C0205643	Carcinoma, Cribriform	1	CTD_human
C0205644	Carcinoma, Granular Cell	1	CTD_human
C0205645	Adenocarcinoma, Tubular	1	CTD_human
C0262584	Carcinoma, Small Cell	1	CTD_human
C0267963	Exocrine pancreatic insufficiency	1	CTD_human
C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	1	CGI;CTD_human
C0334588	Giant Cell Glioblastoma	1	CTD_human
C0334634	Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse	1	CTD_human
C0431380	Cortical Dysplasia	1	CTD_human
C0431391	Hemimegalencephaly	1	GENOMICS_ENGLAND
C0543888	Epileptic encephalopathy	1	GENOMICS_ENGLAND
C0588006	Mild depression	1	PSYGENET
C0678222	Breast Carcinoma	1	CTD_human
C0751958	Lymphoma, Lymphocytic, Intermediate	1	CTD_human
C1257931	Mammary Neoplasms, Human	1	CTD_human
C1266042	Chromophobe Renal Cell Carcinoma	1	CTD_human
C1266043	Sarcomatoid Renal Cell Carcinoma	1	CTD_human
C1266044	Collecting Duct Carcinoma of the Kidney	1	CTD_human
C1306837	Papillary Renal Cell Carcinoma	1	CTD_human
C1621958	Glioblastoma Multiforme	1	CTD_human;UNIPROT
C1955869	Malformations of Cortical Development	1	CTD_human
C1961099	Precursor T-Cell Lymphoblastic Leukemia-Lymphoma	1	CTD_human
C2239176	Liver carcinoma	1	CTD_human
C4048328	cervical cancer	1	CTD_human
C4704874	Mammary Carcinoma, Human	1	CTD_human
C4721507	Alveolitis, Fibrosing	1	CTD_human