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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: TSC1 (NCBI Gene ID:7248)

Gene Summary

Gene Summary

Gene Information	Gene Name: TSC1
	Gene ID: 7248
	Gene Symbol	TSC1
	Gene ID	7248
	Gene Name	TSC complex subunit 1
	Synonyms	LAM\|TSC
	Cytomap	9q34.13
	Type of Gene	protein-coding
	Description	hamartintruncated hemartintuberous sclerosis 1 protein
	Modification date	20200313
	UniProtAcc	Q92574

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

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

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

Partner	Gene	GO ID	GO term	PubMed ID
Hgene	TSC1	GO:0006417	regulation of translation	17308101
Hgene	TSC1	GO:0032780	negative regulation of ATPase activity	29127155
Hgene	TSC1	GO:0032868	response to insulin	16996505
Hgene	TSC1	GO:0050821	protein stabilization	11175345
Hgene	TSC1	GO:0051492	regulation of stress fiber assembly	10806479
Hgene	TSC1	GO:0051894	positive regulation of focal adhesion assembly	10806479
Hgene	TSC1	GO:0090630	activation of GTPase activity	10806479

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
TSC1	(733 - 1119.25]

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Translation Studies in PubMed

We searched PubMed using 'TSC1[title] AND translation [title] AND human.'

Gene	Title	PMID
TSC1	TSC1 sets the rate of ribosome export and protein synthesis through nucleophosmin translation	17308101

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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
ENST00000298552	135772570	135772732	In-frame
ENST00000440111	135772570	135772732	In-frame
ENST00000298552	135776101	135776224	In-frame
ENST00000440111	135776101	135776224	In-frame
ENST00000298552	135779037	135779204	Frame-shift
ENST00000440111	135779037	135779204	Frame-shift
ENST00000298552	135779797	135779841	Frame-shift
ENST00000440111	135779797	135779841	Frame-shift
ENST00000298552	135782117	135782222	In-frame
ENST00000440111	135782117	135782222	In-frame
ENST00000298552	135785957	135786079	Frame-shift
ENST00000440111	135785957	135786079	Frame-shift
ENST00000298552	135786388	135786500	Frame-shift
ENST00000440111	135786388	135786500	Frame-shift
ENST00000298552	135796749	135796823	Frame-shift
ENST00000440111	135796749	135796823	Frame-shift
ENST00000298552	135800973	135801126	In-frame
ENST00000440111	135800973	135801126	In-frame
ENST00000298552	135802587	135802691	Frame-shift
ENST00000440111	135802587	135802691	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)
ENST00000440111	135772570	135772732	8480	2897	3058	1164	938	991
ENST00000298552	135772570	135772732	8621	3036	3197	1164	938	991
ENST00000440111	135776101	135776224	8480	2586	2708	1164	834	875
ENST00000298552	135776101	135776224	8621	2725	2847	1164	834	875
ENST00000440111	135782117	135782222	8480	1417	1521	1164	444	479
ENST00000298552	135782117	135782222	8621	1556	1660	1164	444	479
ENST00000440111	135800973	135801126	8480	294	446	1164	70	121
ENST00000298552	135800973	135801126	8621	433	585	1164	70	121

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.
Q92574	70	121	1	1164	Chain	ID=PRO_0000065651;Note=Hamartin
Q92574	834	875	1	1164	Chain	ID=PRO_0000065651;Note=Hamartin
Q92574	938	991	1	1164	Chain	ID=PRO_0000065651;Note=Hamartin
Q92574	444	479	1	1164	Chain	ID=PRO_0000065651;Note=Hamartin
Q92574	70	121	1	1164	Chain	ID=PRO_0000065651;Note=Hamartin
Q92574	834	875	1	1164	Chain	ID=PRO_0000065651;Note=Hamartin
Q92574	938	991	1	1164	Chain	ID=PRO_0000065651;Note=Hamartin
Q92574	444	479	1	1164	Chain	ID=PRO_0000065651;Note=Hamartin
Q92574	834	875	721	997	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92574	938	991	721	997	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92574	834	875	721	997	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92574	938	991	721	997	Coiled coil	Ontology_term=ECO:0000255;evidence=ECO:0000255
Q92574	70	121	70	120	Alternative sequence	ID=VSP_042890;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q92574	70	121	70	120	Alternative sequence	ID=VSP_042890;Note=In isoform 2. Missing;Ontology_term=ECO:0000303;evidence=ECO:0000303\|PubMed:14702039;Dbxref=PMID:14702039
Q92574	70	121	72	72	Natural variant	ID=VAR_054387;Note=In TSC1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10533069;Dbxref=dbSNP:rs118203354,PMID:10533069
Q92574	70	121	72	72	Natural variant	ID=VAR_054387;Note=In TSC1. L->P;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:10533069;Dbxref=dbSNP:rs118203354,PMID:10533069
Q92574	70	121	117	117	Natural variant	ID=VAR_070637;Note=In TSC1%3B reduced expression%3B altered subcellular localization%3B reduced interaction with TSC2%3B reduced inhibition of TORC1 signaling. L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18830229,ECO:0000269\|PubMed:22161988,ECO:0000269\|PubMed:29127155;Dbxref=dbSNP:rs118203368,PMID:18830229,PMID:22161988,PMID:29127155
Q92574	70	121	117	117	Natural variant	ID=VAR_070637;Note=In TSC1%3B reduced expression%3B altered subcellular localization%3B reduced interaction with TSC2%3B reduced inhibition of TORC1 signaling. L->P;Ontology_term=ECO:0000269,ECO:0000269,ECO:0000269;evidence=ECO:0000269\|PubMed:18830229,ECO:0000269\|PubMed:22161988,ECO:0000269\|PubMed:29127155;Dbxref=dbSNP:rs118203368,PMID:18830229,PMID:22161988,PMID:29127155
Q92574	834	875	165	1164	Natural variant	ID=VAR_078845;Note=In TSC1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11829138;Dbxref=PMID:11829138
Q92574	938	991	165	1164	Natural variant	ID=VAR_078845;Note=In TSC1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11829138;Dbxref=PMID:11829138
Q92574	444	479	165	1164	Natural variant	ID=VAR_078845;Note=In TSC1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11829138;Dbxref=PMID:11829138
Q92574	834	875	165	1164	Natural variant	ID=VAR_078845;Note=In TSC1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11829138;Dbxref=PMID:11829138
Q92574	938	991	165	1164	Natural variant	ID=VAR_078845;Note=In TSC1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11829138;Dbxref=PMID:11829138
Q92574	444	479	165	1164	Natural variant	ID=VAR_078845;Note=In TSC1. Missing;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:11829138;Dbxref=PMID:11829138
Q92574	444	479	448	448	Natural variant	ID=VAR_070651;Note=Rare polymorphism%3B no effect on expression%3B no effect on subcellular localization%3B no effect on inhibition of TORC1 signaling. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22161988;Dbxref=dbSNP:rs118203518,PMID:22161988
Q92574	444	479	448	448	Natural variant	ID=VAR_070651;Note=Rare polymorphism%3B no effect on expression%3B no effect on subcellular localization%3B no effect on inhibition of TORC1 signaling. P->S;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22161988;Dbxref=dbSNP:rs118203518,PMID:22161988
Q92574	938	991	978	978	Natural variant	ID=VAR_070661;Note=In TSC1%3B unknown pathological significance%3B no effect on expression%3B no effect on subcellular localization%3B no effect on inhibition of TORC1 signaling. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22161988;Dbxref=dbSNP:rs397514859,PMID:22161988
Q92574	938	991	978	978	Natural variant	ID=VAR_070661;Note=In TSC1%3B unknown pathological significance%3B no effect on expression%3B no effect on subcellular localization%3B no effect on inhibition of TORC1 signaling. L->V;Ontology_term=ECO:0000269;evidence=ECO:0000269\|PubMed:22161988;Dbxref=dbSNP:rs397514859,PMID:22161988
Q92574	938	991	941	971	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Z6Y
Q92574	938	991	941	971	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Z6Y
Q92574	938	991	975	991	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Z6Y
Q92574	938	991	975	991	Helix	Ontology_term=ECO:0000244;evidence=ECO:0000244\|PDB:4Z6Y

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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
CHOL	TSC1	-6.69859195277734	0.00390625
THCA	TSC1	-2.42539568824156	7.77019962091197e-05

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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
BRCA	TSC1	1	2	0.0237552951832387	0.161781707317073	0.362612645143019	-0.00850516905685367	-0.0923858309297221
PCPG	TSC1	1	2	0.0133643964268791	0.1461734375	0.366537096774194	-0.123556083691	-0.184530519174845

Translation factor expression regulation through copy number variation of Translation factor

Cancer type	Gene	Coefficient	Pvalue
PAAD	TSC1	0.190906904	0.020425052

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Associated Genes

Strongly correlated genes belong to cellular important gene groups with TSC1 (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
GBM	TF	TSC1	ZBTB43	0.823471169	1.06E-43
THYM	TF	TSC1	ZNF248	0.808096032	2.35E-29
UCS	TF	TSC1	ZNF248	0.808096032	2.35E-29
UVM	Epifactor	TSC1	UHRF2	0.801088241	4.59E-19
UVM	TSG	TSC1	UHRF2	0.801088241	4.59E-19

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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
STAD	TSC1	TBC1D7	-3.0194273391343	0.000837184488773346
BRCA	TSC1	RHEB	-1.34423616302394	0.00103883851257192
PRAD	TSC1	TBC1D7	-1.11110722898755	0.00155267706387314
ESCA	TSC1	TSC2	-3.24919207627469	0.001953125
LUSC	TSC1	YWHAE	-2.60125313281323	0.00291962754379891
ESCA	TSC1	TBC1D7	-1.38461237342387	0.0029296875
CHOL	TSC1	RPTOR	-2.34317187916664	0.00390625
LUSC	TSC1	TSC2	1.12504498503233	0.00646935999315137
HNSC	TSC1	TBC1D7	-2.21939314971525	0.00769387991408621
COAD	TSC1	TBC1D7	-3.12776297955339	0.00793844461441041
KICH	TSC1	DDIT4	1.59528690017039	0.00806879997253418
STAD	TSC1	TSC2	-1.66130396745917	0.018431528005749
KICH	TSC1	RHEB	1.83191315229171	0.0236499309539795
KIRC	TSC1	YWHAE	-1.35775845132194	0.0300887936112904
LUAD	TSC1	AKT1	-4.53714460696341	0.0301695351050489
READ	TSC1	DDIT4	-2.2563841292395	0.03125
LUAD	TSC1	MLST8	-1.0067433555627	1.03207777888518e-06
BRCA	TSC1	MLST8	-1.86304443127359	1.06372586581501e-16
COAD	TSC1	DDIT4	-3.76842934820424	2.08616256713867e-07
BRCA	TSC1	TBC1D7	-3.71174676804539	2.18000866371428e-22
LIHC	TSC1	TSC2	-2.06124259504281	3.59406613648813e-06
LUSC	TSC1	MLST8	-2.07059311474544	3.67421243367441e-07
LUAD	TSC1	TBC1D7	-2.0766722256047	3.69567836606625e-08
PRAD	TSC1	RHEB	1.54870835586921	4.59461327401057e-05
KICH	TSC1	TSC2	-5.67340295495929	6.36577606201172e-05
LIHC	TSC1	RPTOR	-4.36362270436135	6.64579404273587e-07
THCA	TSC1	DDIT4	-1.26534821218941	6.94861970651145e-07
BRCA	TSC1	RICTOR	-1.23696248638589	7.64567674547321e-05
PRAD	TSC1	MTOR	2.45767376269894	8.16442831201447e-07

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

PPI interactors with TSC1

MSN, YWHAZ, EZR, ACTA1, AKT1, NEFL, RHEB, RPS6KA1, CDK1, GSK3B, PAM, PTK2, TSC1, TSC2, AXIN1, Tsc2, DOCK7, FBXW5, TBC1D7, BECN1, YWHAB, YWHAG, CDKN1B, IKBKB, ATXN1, YWHAE, MAPK14, ESR1, KDM1A, PRMT6, CIAO1, MOV10, NXF1, DAPK1, RRAGA, RRAGC, AKTIP, HSH2D, SH2D2A, APPL2, DOK5, RIN3, TENC1, Tbc1d7, KDM5C, TOP1, VHL, PPM1H, CPVL, DYRK1A, PCM1, PIH1D1, RPAP3, RUVBL1, RUVBL2, URI1, WDR92, ESR2, ARF1, B4GALT1, EZH2, HSP90AB1, DAZAP1, B4GALT3, ARFGAP2, HDAC8, TRAPPC13, CUL5, TRAPPC2L, VPS53, SEC24B, SEC31A, TRAPPC2, IGF2R, SEC24A, GCNT2, SEC23IP, SLC39A3, IGF2BP1, SEC23B, SEC24C, TRAPPC12, SLC39A7, IGF1R, SAR1A, RICTOR, MYC, KRAS, TP63, PLK2, NINL, AURKA, NF2, CCNE1, ARAF, CCND2, CDK4, CDK6, CDKN2A, KAT2A, MAP2K5, RASSF1, SOX4, CDKN2B, FGFR4, LATS2, MYLIP, TFAP2D, HOXC8, DMRT3, PITX1, YPEL3, PATZ1, CSTF2, AES, LENG1, SMG9, CHCHD2, POU6F2, TSHZ3, ENKD1, FAM110A, GLIS2, LMO2, VEZF1, SPAG8, FRS3, SUOX, C1orf94, POGZ, PPP1R18, CCDC120, SHC3, TCF7L2, TBX6, VENTX, CCL28, BAG3, ZIC1, RBPMS, FOXH1, PPP1R32, IGFN1, MYOZ3, PATL1, VPS37C, HR, FAM222B, ZNF417, RIN1, TSGA10IP, SAMD7, SAMD11, ZNF765, ARID5A, ZNF587, GPANK1, VGLL3, AQP1, Ngfrap1, GOLGA4, nsp4, PRC1, MTCH2, FASN, SREBF1, EGFR, DDX58, DERL1, LAMP2, LAMP3, LAMTOR1, NUP155, PFN1, RAB11A, RAB2A, RAB4A, RAB5A, RAB5C, RAB9A, STX6, STX7, SYNE3, TMOD1, ABI1, ACTN1, ACTN2, ANKIB1, ANKRD24, ANKRD35, ATN1, BCL11A, BEND5, KANSL2, MSANTD3, CALCOCO2, CASC3, CCDC88B, CDR2, CNTRL, CNIH1, CNTROB, COG6, CTNNB1, DACH2, DCTN2, EIF3A, FBF1, FTH1, GCC1, GEMIN8, GFAP, GOLGA2, GPATCH1, HECW1, HGS, HNRNPM, HOMER3, HOOK2, ICA1, KAZN, KIF1C, KIF5A, KLC1, KLC4, LRSAM1, LUC7L, LZTS2, MBIP, MBP, ND1, NECAB2, NKD2, NRBF2, PHLDB1, PICK1, PPFIA2, RALYL, RUNDC3A, SCMH1, SEPW1, SERTAD1, SHANK1, SORBS3, SPAG5, TANK, TFIP11, TRIM3, TRIOBP, VIM, ZNF423, NAA40, EDEM1, LURAP1, KRT27, YWHAH, NPTN, YWHAQ, WHAMMP3, KRT38, TMED5, FBXW7, PLK1,

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Mutations

Clinically associated variants from ClinVar.

Gene	Chr	Position	RefSeq	VarSeq	RefSeeq	VarType	Pathogenic	Disease	VarInfo
TSC1	chr9	135766724	C	T	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome
TSC1	chr9	135766777	C	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135766796	T	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135766834	T	G	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135766859	A	G	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135766942	C	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135766990	T	TA	Duplication	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135766990	TA	T	Deletion	Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767000	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767031	C	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767084	T	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767100	G	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767107	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767130	A	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767175	G	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767185	C	T	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767237	C	A	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767266	G	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767368	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767374	G	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767374	G	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767389	C	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767429	T	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767455	G	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767463	C	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767494	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767503	A	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767517	G	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767550	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767565	C	T	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767625	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767634	C	T	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767635	T	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767663	A	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767670	T	C	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767686	G	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767687	G	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767698	C	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767786	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767792	G	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767885	G	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767893	C	A	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767937	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767943	C	T	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767964	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135767974	G	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768057	G	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768079	G	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768084	T	C	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768091	C	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768138	T	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768174	G	A	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768292	C	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768337	C	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768338	G	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768350	T	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768362	C	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768364	C	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768371	CCTG	C	Deletion	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768382	C	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768383	C	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768384	A	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768452	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768530	A	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768559	T	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768575	G	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768577	T	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768588	A	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768673	T	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768698	A	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768718	C	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768725	T	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768728	G	GT	Duplication	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768728	GT	G	Deletion	Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768732	T	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768748	C	T	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768750	C	T	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768768	A	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768793	T	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768889	T	C	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768898	G	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768914	C	G	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768931	T	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768943	A	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768964	C	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768971	C	A	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768975	G	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768978	C	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768981	C	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768984	G	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768985	G	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768990	T	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135768994	C	G	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769007	G	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769046	A	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769064	T	C	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769064	T	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769107	A	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769147	G	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769161	C	T	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769176	T	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769183	G	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769204	C	T	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769258	A	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769268	T	C	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769392	T	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769394	C	T	single_nucleotide_variant	Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769409	G	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769454	G	A	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769480	A	G	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769513	G	A	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769518	T	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769528	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769600	C	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769650	T	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769652	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769653	A	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769688	T	C	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769720	A	C	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769761	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769783	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769837	T	C	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135769942	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770010	G	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770080	T	TA	Duplication	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770102	AG	A	Deletion	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770103	G	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770114	T	C	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770115	C	T	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770134	G	A	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770135	G	A	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770148	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770154	G	A	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770170	T	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770226	A	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770250	A	C	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770267	G	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770273	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770290	G	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770300	G	A	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770347	A	C	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770371	G	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770383	G	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770407	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770495	G	A	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770533	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770570	C	T	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770572	A	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770586	G	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770622	T	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770681	T	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770686	A	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770702	G	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770709	G	A	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770763	C	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770781	G	A	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770798	G	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770805	C	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770816	A	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770940	G	A	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770945	C	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135770971	G	C	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771039	G	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771074	G	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771123	G	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771174	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771217	T	C	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771246	G	A	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|not_provided	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771261	G	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771264	G	A	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771272	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771289	G	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771324	T	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771327	G	C	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771327	G	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771332	GA	G	Deletion	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771333	A	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771343	A	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771372	C	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771373	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771424	A	G	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771506	T	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771515	A	G	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771516	T	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771562	A	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771608	T	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001624\|3_prime_UTR_variant	SO:0001624\|3_prime_UTR_variant
TSC1	chr9	135771628	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771630	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771631	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771634	A	G	single_nucleotide_variant	Likely_benign	Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771635	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771642	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771642	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771647	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771648	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771657	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771658	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771660	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771661	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771662	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771663	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771664	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771672	CA	C	Deletion	Uncertain_significance	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135771675	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771678	T	C	single_nucleotide_variant	Uncertain_significance	Acute_myeloid_leukemia\|Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771680	TC	T	Deletion	Uncertain_significance	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135771681	C	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771681	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771681	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771682	C	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771682	C	T	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771683	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771684	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771685	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771685	G	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771686	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771688	C	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771688	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771689	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771691	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771691	G	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771692	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771693	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771693	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771694	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771695	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771697	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771698	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771700	G	A	single_nucleotide_variant	Likely_benign	Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771700	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771701	T	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771702	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771703	A	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771704	G	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771707	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771709	A	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771710	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771712	T	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771714	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771714	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771715	G	A	single_nucleotide_variant	Benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771717	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771718	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771720	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771721	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771721	G	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771722	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771723	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771727	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771728	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771729	T	TG	Duplication	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135771730	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771731	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771736	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771738	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771739	A	ACC	Duplication	Uncertain_significance	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135771740	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771744	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771747	CTT	C	Deletion	Uncertain_significance	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135771753	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771754	C	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771756	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771756	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771756	GTT	G	Deletion	Uncertain_significance	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135771760	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771761	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771767	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771770	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771779	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771780	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771781	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771785	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771788	G	C	single_nucleotide_variant	Uncertain_significance	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771790	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771792	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771793	G	A	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Malignant_tumor_of_urinary_bladder\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771795	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771795	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771796	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771796	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771798	C	T	single_nucleotide_variant	Benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771799	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771806	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771806	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771808	C	G	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771808	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771809	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771812	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771812	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771814	C	G	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771814	C	T	single_nucleotide_variant	Benign/Likely_benign	Malignant_tumor_of_urinary_bladder\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771816	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771817	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771819	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771821	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771824	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771825	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771827	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771828	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771835	C	T	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|none_provided\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771836	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771836	T	C	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771837	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771838	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771838	T	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771839	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771840	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135771841	A	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771842	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771843	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771843	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771849	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771851	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771851	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771854	A	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771856	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771859	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771859	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771864	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771865	T	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771867	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771868	A	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771869	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771871	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771871	G	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771872	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771873	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771874	A	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771877	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771880	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771883	C	T	single_nucleotide_variant	Likely_benign	History_of_neurodevelopmental_disorder	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771886	A	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771889	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771891	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771894	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771900	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771901	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771901	G	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771902	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771903	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771904	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771907	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771908	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771908	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771910	T	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771911	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771912	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771917	A	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771917	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771919	A	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771922	C	T	single_nucleotide_variant	Benign	Tuberous_sclerosis_1\|Lymphangiomyomatosis\|Tuberous_sclerosis_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771923	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771930	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771932	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771933	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771933	G	T	single_nucleotide_variant	Likely_benign	Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771934	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771936	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771936	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771940	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771940	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771942	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771945	G	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771946	GCCT	CACC	Indel	not_provided	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771947	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771948	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771949	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771952	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771953	C	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771956	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771958	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771965	G	T	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771966	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771970	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771973	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771973	T	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771974	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771976	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771976	G	T	single_nucleotide_variant	Likely_benign	Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771977	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771980	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771982	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771984	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771984	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771985	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771986	T	TCG	Duplication	Uncertain_significance	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135771987	C	CGCT	Microsatellite	Benign/Likely_benign	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
TSC1	chr9	135771987	C	CGCTGATGCT	Insertion	Uncertain_significance	Tuberous_sclerosis_1	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
TSC1	chr9	135771987	C	CGCTGCT	Microsatellite	Likely_benign	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
TSC1	chr9	135771987	C	CGCTGCTGCT	Microsatellite	Benign	Tuberous_sclerosis_1	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
TSC1	chr9	135771987	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771987	CGCT	C	Microsatellite	Benign	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
TSC1	chr9	135771987	CGCTGCT	C	Microsatellite	Uncertain_significance	Tuberous_sclerosis_1	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
TSC1	chr9	135771987	CGCTGCTGCT	C	Microsatellite	Uncertain_significance	Tuberous_sclerosis_1	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
TSC1	chr9	135771988	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135771988	G	GGCTGCT	Insertion	Likely_benign	none_provided	SO:0001820\|inframe_indel	SO:0001820\|inframe_indel
TSC1	chr9	135771990	T	C	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771992	C	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771992	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771993	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771994	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771996	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135771997	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772002	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772002	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772003	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772004	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772004	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772005	T	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772010	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772011	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772012	A	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772014	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772016	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772018	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772025	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772026	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772029	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772030	ACTG	A	Deletion	Uncertain_significance	Tuberous_sclerosis_1	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
TSC1	chr9	135772031	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772031	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772032	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772034	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772037	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772037	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772038	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772040	GC	AA	Indel	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772041	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772041	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772042	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772043	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772045	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772048	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772049	G	A	single_nucleotide_variant	Benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772050	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772051	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772053	TG	T	Deletion	Uncertain_significance	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135772054	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772055	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772055	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772056	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772057	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772058	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772067	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772068	C	T	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772069	A	G	single_nucleotide_variant	Likely_benign	Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772070	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772071	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772072	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772075	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772083	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772085	G	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772087	C	A	single_nucleotide_variant	not_provided	Malignant_tumor_of_urinary_bladder	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772087	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772090	T	C	single_nucleotide_variant	Likely_benign	Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772093	A	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772093	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772094	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|History_of_neurodevelopmental_disorder	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772098	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772101	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772104	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772105	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772106	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772107	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772107	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772108	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772109	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772112	T	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772113	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772117	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772118	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772120	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772121	C	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772122	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772122	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772123	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772129	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772130	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772131	A	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772133	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772135	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772137	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772140	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772141	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772143	T	C	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135772148	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772149	A	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772151	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772159	A	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772184	C	G	single_nucleotide_variant	Benign	Tuberous_sclerosis_syndrome\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772195	C	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772444	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772470	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772563	G	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772564	T	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772565	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772567	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772571	CT	C	Deletion	Uncertain_significance	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135772578	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772579	T	TGCTGCTTCA	Duplication	Uncertain_significance	Tuberous_sclerosis_1	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
TSC1	chr9	135772580	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772581	C	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772582	T	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772586	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772588	AGCTGCTTCT	A	Deletion	Uncertain_significance	Tuberous_sclerosis_1	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
TSC1	chr9	135772593	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772599	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772600	T	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772601	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772602	TTTC	T	Microsatellite	Uncertain_significance	Tuberous_sclerosis_1	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
TSC1	chr9	135772606	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772608	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772611	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772612	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772613	A	C	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772613	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772613	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772614	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|History_of_neurodevelopmental_disorder\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772614	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772614	GT	G	Deletion	Uncertain_significance	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135772616	T	C	single_nucleotide_variant	Benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772620	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772622	A	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772624	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772625	A	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772632	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772636	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772637	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772641	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772642	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772645	G	A	single_nucleotide_variant	Benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772648	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772650	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772651	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772653	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772655	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772656	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772661	A	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772661	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772662	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772664	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772666	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772668	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772672	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772673	A	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772679	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772679	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772680	G	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135772681	G	A	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|none_provided\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772682	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772684	TA	GT	Indel	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772698	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772703	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772703	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772705	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772705	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772705	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772707	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772709	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772710	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772715	G	GCAGGC	Insertion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135772716	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772716	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772717	G	A	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Malignant_tumor_of_urinary_bladder\|Tuberous_sclerosis_1\|Lymphangiomyomatosis\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|none_provided\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772725	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772727	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772728	G	A	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135772730	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772731	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772732	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772734	T	C	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135772739	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772741	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772759	T	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772788	AGCCTTTCCTGATGAAAGTT	A	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772804	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772805	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772805	GTTACC	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135772808	A	C	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135772810	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772811	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772814	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772815	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772816	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772817	G	A	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135772826	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772827	A	C	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772827	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772831	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772832	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772833	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772835	GAT	G	Microsatellite	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135772836	A	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772838	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772838	ATTTC	A	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135772842	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772842	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772845	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772845	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772847	G	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135772847	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772851	CA	C	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135772857	A	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772857	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772859	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772862	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772863	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772867	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772868	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772868	T	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772870	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772870	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772874	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772875	C	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772875	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772877	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772878	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772884	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772887	C	T	single_nucleotide_variant	Likely_benign	Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772893	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772897	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772900	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772901	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772901	GT	G	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135772906	T	TGG	Duplication	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135772907	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135772912	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772913	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772914	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772923	C	CTT	Insertion	Likely_pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135772923	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772923	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772923	CT	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135772925	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135772925	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772927	G	C	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772928	TC	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135772931	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135772931	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772932	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772934	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135772935	G	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772937	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772937	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772939	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772940	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772941	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772942	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772943	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772946	T	G	single_nucleotide_variant	Benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772946	TTC	T	Deletion	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135772948	CTGTT	C	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135772950	G	GT	Duplication	Pathogenic	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135772950	G	GTT	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135772950	GT	G	Deletion	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135772951	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772956	T	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772957	TC	AT	Indel	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772959	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772964	CT	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135772964	CTT	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135772965	T	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772967	T	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135772967	T	C	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772969	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772970	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772971	A	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135772972	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772972	T	TA	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135772976	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772977	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Malignant_tumor_of_urinary_bladder\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772978	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772979	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772980	T	A	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772982	T	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135772982	TC	T	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135772983	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772983	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772986	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772986	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772986	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772987	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772988	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772988	T	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772991	C	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135772993	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772994	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772995	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135772997	C	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135772997	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135772998	C	T	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135772999	T	C	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135772999	T	G	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135772999	T	TA	Insertion	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772999	T	TAA	Insertion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772999	T	TAAA	Insertion	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772999	T	TG	Duplication	Benign/Likely_benign	Tuberous_sclerosis_1\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772999	T	TGA	Duplication	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772999	T	TTA	Insertion	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135772999	TG	T	Deletion	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135773000	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135773000	G	GA	Duplication	Benign	Tuberous_sclerosis_1\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135773000	G	GAA	Duplication	Benign	Tuberous_sclerosis_1\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135773000	G	GAAA	Duplication	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135773000	G	GAC	Insertion	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135773000	G	GGA	Insertion	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135773000	GA	G	Deletion	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135773000	GAA	G	Deletion	Benign	Tuberous_sclerosis_1\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135773000	GAAA	G	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135773001	A	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135773001	A	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135773002	A	AAG	Insertion	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135773002	A	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135773002	A	G	single_nucleotide_variant	Benign	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135773005	A	AAC	Insertion	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135773005	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135773006	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135773114	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135773164	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135775530	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135775718	G	GA	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135775729	ATGGTATGTACAGCACT	A	Deletion	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135775734	AT	A	Deletion	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135775735	T	C	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135776027	T	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135776034	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135776083	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135776087	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135776098	A	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135776101	C	T	single_nucleotide_variant	not_provided	Malignant_tumor_of_urinary_bladder	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135776102	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776107	T	G	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776113	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776113	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776114	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135776115	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776118	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776120	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776120	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135776121	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776122	T	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135776123	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135776128	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135776131	GT	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135776134	G	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135776137	C	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135776142	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776144	GA	G	Deletion	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135776150	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135776151	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776153	G	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135776155	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776157	T	TC	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135776157	TC	T	Deletion	Pathogenic	Tuberous_sclerosis_syndrome\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135776160	CCAAGAACCAACAGCTGCCTGTT	C	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135776162	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135776163	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776164	GAACC	G	Deletion	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135776170	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135776171	C	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135776171	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135776176	G	A	single_nucleotide_variant	Pathogenic	Hereditary_cancer-predisposing_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135776176	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776178	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776179	TG	T	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135776180	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135776180	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776185	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135776192	CATCTGCT	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135776195	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135776197	G	A	single_nucleotide_variant	Pathogenic	Hereditary_cancer-predisposing_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135776200	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776203	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135776204	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135776205	A	AC	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135776207	C	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135776207	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135776208	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776208	GACTC	G	Deletion	Pathogenic	Tuberous_sclerosis_1\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135776210	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135776211	T	C	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776212	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776213	A	C	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776213	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135776214	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776214	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776214	CTGTT	C	Deletion	Pathogenic	Seizures\|Multiple_renal_cysts\|Cortical_tubers\|Tuberous_sclerosis_1\|Lymphangiomyomatosis\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135776215	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776216	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135776216	G	GT	Duplication	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135776219	T	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135776220	G	C	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135776221	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776222	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135776225	C	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135776225	C	G	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135776226	T	C	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135776227	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135776228	A	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135776228	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135776233	A	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135776235	A	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135776235	A	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135776239	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135776245	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_syndrome\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135776259	A	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135776341	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135776360	T	TC	Duplication	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135776845	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135776874	ATGACACAGACACTCAAGTAATCTATTTCTTTAACCTGTCTGAAGGAAGAATGTTAGCAAATGGTGTTTCAGCAGATTCAGGTCTGCCTCATTTCTTCTTACCTTTTGGGAAACCTGACTGAGCAGCAGCTCAGTGTGACACACCTTGTTGTTGGCCTTCTTCAGTTCTATCCGCAGCTCCGCAATCATGTTCCTGCAGTCCTCCAGCTTCGTCTGCCCAAAGAGACGTGGACATGAAGTTTGAGGAACACCAAC	A	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001574\|splice_acceptor_variant,SO:0001575\|splice_donor_variant	SO:0001574\|splice_acceptor_variant,SO:0001575\|splice_donor_variant
TSC1	chr9	135776925	T	C	single_nucleotide_variant	Benign	Tuberous_sclerosis_syndrome\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135776958	T	G	single_nucleotide_variant	Benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135776965	TTTC	T	Microsatellite	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135776966	TTCTTCTTA	T	Deletion	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135776968	C	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135776973	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135776976	C	CT	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135776979	T	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135776980	T	TG	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135776981	G	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135776982	G	C	single_nucleotide_variant	Likely_benign	Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135776987	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776987	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776987	CCTGA	C	Microsatellite	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135776990	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135776990	G	C	single_nucleotide_variant	Uncertain_significance	Neuroblastoma	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776992	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776993	T	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776993	T	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135776997	C	CAGCA	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135776998	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135777000	C	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|History_of_neurodevelopmental_disorder\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135777000	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135777005	CAG	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135777006	A	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135777006	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135777006	AGT	A	Microsatellite	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135777007	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135777008	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135777009	G	GC	Insertion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135777009	GT	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135777011	GAC	G	Microsatellite	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135777015	C	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135777015	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135777017	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135777018	CTTG	C	Microsatellite	Uncertain_significance	Tuberous_sclerosis_1	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
TSC1	chr9	135777018	CTTGT	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135777019	T	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135777020	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135777021	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135777024	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135777028	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135777029	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135777030	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135777032	T	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135777033	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135777034	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135777037	AG	A	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135777040	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135777044	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135777046	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135777047	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135777047	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135777048	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135777052	TCCGCAATCATGTTC	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135777053	C	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135777054	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135777055	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135777056	C	CA	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135777057	A	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135777058	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135777062	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135777065	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135777066	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135777070	CA	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135777077	C	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135777078	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135777084	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135777085	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135777087	C	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135777091	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135777092	CAA	C	Deletion	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135777093	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135777094	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135777100	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135777102	T	C	single_nucleotide_variant	Benign	not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135777121	A	G	single_nucleotide_variant	Benign	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135777308	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135777404	ATCTGTTGGACACTCTGTGAATTACTAACTGGCTGGAAATGATGCTGTGTCTGTGGATGACGTCTTTGTGAAGCCGGGTTTTTTTGGGTGCAGTGATACAAAGCACCACAAGGAAAACCAGTGTGGAACAGGAAATGAGGGTGTCACTGTCCACTCTGATTTCAAGGTCTGAGATACCATGCAGTGCCCAATAGGTGCACACGAGGCATTAGTAATTGCAATTATTTTTTTAAAAATTAATTTATGTGTATTATC	A	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001574\|splice_acceptor_variant,SO:0001575\|splice_donor_variant	SO:0001574\|splice_acceptor_variant,SO:0001575\|splice_donor_variant
TSC1	chr9	135777958	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135777975	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135777978	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135777983	A	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135777984	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135777991	C	G	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135777994	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135777994	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135777995	T	TA	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135778003	G	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135778003	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|History_of_neurodevelopmental_disorder	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778008	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778011	T	C	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778013	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135778014	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778016	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135778018	AT	A	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135778018	ATTCCT	A	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135778019	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135778021	C	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135778022	C	CTCTCGGTCATGCTGCAGCTG	Duplication	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135778022	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|History_of_neurodevelopmental_disorder	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778022	CT	C	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135778024	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778025	TC	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135778026	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778027	G	A	single_nucleotide_variant	Pathogenic	Seizures\|Cardiac_rhabdomyoma\|Hamartoma\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135778036	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135778038	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778039	GCTGT	G	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135778040	C	CTT	Insertion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135778040	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135778042	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135778044	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778045	T	A	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135778048	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778050	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778051	G	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135778052	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778052	GCTGTGGAGCT	G	Deletion	Pathogenic	Lymphangiomyomatosis	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135778053	CT	C	Deletion	Pathogenic	Lymphangiomyomatosis\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135778053	CTG	C	Microsatellite	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135778054	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778058	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135778060	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778061	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135778062	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778062	TTGGTTACCATAGTGTCACGCTGC	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135778063	TG	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135778065	GT	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135778065	GT	TG	Indel	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778069	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778071	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778072	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778076	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135778080	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Lymphangiomyomatosis\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778081	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778082	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778083	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778083	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778084	G	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135778084	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778085	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778086	T	C	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778087	C	G	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778087	CCTGGAGCTGATTGTAT	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135778090	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135778090	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778090	G	GA	Insertion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135778091	G	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135778091	GA	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135778096	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135778097	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135778098	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778098	T	TTGTA	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135778099	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778100	G	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135778100	G	T	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135778101	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778102	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778107	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778107	G	C	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778108	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778111	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135778111	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778111	GTTCT	G	Microsatellite	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135778113	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778114	C	A	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135778114	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778115	T	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135778116	TTCTGCAGACTAACCTTCCACATCTGGATGTCCTTCTCTTGTAACTTCAACTGATCTTTCTAGCAGAGACCAGAAATGTCATCATTTTAGCTGTCTTCCAACACAGGCAATTTAACACACACTGCGAACATTTCATCTGAATAGTCATAAGCTACCCTGAAAATGTAACTAACTACAGACCAAAACTCTTAGAGCTCACTACTGTCTTACTTGGCCTTAGGTCAAGGTTTTCCAAATTTTACATTAAGCAAATGG	T	Deletion	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001574\|splice_acceptor_variant,SO:0001575\|splice_donor_variant	SO:0001574\|splice_acceptor_variant,SO:0001575\|splice_donor_variant
TSC1	chr9	135778120	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135778123	G	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135778129	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778130	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778132	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778133	C	CCA	Microsatellite	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135778133	C	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135778134	C	T	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135778139	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778141	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135778144	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778147	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778147	CCTTCT	C	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135778148	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778148	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778148	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135778156	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135778157	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135778158	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778160	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135778161	T	G	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778162	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778163	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135778165	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135778168	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135778169	A	ATC	Duplication	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135778169	A	T	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778170	T	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778174	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135778177	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135778179	C	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135778183	G	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135778183	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135778185	C	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135778188	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135778209	T	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135778827	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135778867	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135779015	C	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135779021	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135779028	C	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135779030	G	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135779031	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135779036	A	T	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135779048	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779048	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779050	A	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779051	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779052	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|Focal_cortical_dysplasia_of_Taylor_type_2B\|not_specified\|none_provided\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779054	TC	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779055	C	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135779063	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779064	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779064	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779065	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779065	T	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779065	T	TGCTG	Duplication	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779068	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779069	G	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779069	GCTTT	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779070	C	CT	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779074	G	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779075	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779076	TC	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779080	CT	C	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779082	T	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135779084	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779084	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779084	CG	C	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779085	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779085	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779086	GA	G	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779089	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779089	GA	G	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779092	C	CCGCCTGTT	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779093	C	CGGCT	Insertion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779093	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779094	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779094	G	GC	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779097	T	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779098	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779100	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779100	TC	T	Deletion	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779101	C	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779101	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779102	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779103	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779103	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779104	GA	G	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779105	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779106	GGGCAT	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779108	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779110	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779115	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135779115	G	GC	Duplication	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779115	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779118	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135779124	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779125	A	AAAACGCTCATAGAGTAACTGGTTGTGCAGTAAAAGCAACTGGTCTC	Duplication	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135779127	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779129	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779129	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779130	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779130	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779131	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|History_of_neurodevelopmental_disorder\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779133	CAT	C	Deletion	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135779134	A	C	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135779134	A	T	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135779135	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779135	T	TA	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779135	TAG	T	Microsatellite	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779136	A	AGAGTAAC	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779137	G	A	single_nucleotide_variant	Likely_benign	Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779137	GAGT	AAACGCTCTTAAAACAA	Indel	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779138	AGTAACTG	A	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779139	G	GT	Duplication	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779139	G	GTAAAC	Insertion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779139	G	GTAAC	Duplication	Pathogenic	Tuberous_sclerosis_syndrome\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779139	GTAAC	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779140	T	AC	Indel	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779140	T	TAG	Insertion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779143	C	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779143	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779143	CTG	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779144	TG	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779145	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135779147	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779148	T	TG	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779148	T	TGTGCAGTAAAAGCAACTGGTCTCGGAGG	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779149	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779150	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779151	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779151	GC	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779152	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779153	A	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779154	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779155	TA	T	Deletion	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779160	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779160	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779161	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779163	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779163	AC	A	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779166	G	A	single_nucleotide_variant	not_provided	Malignant_tumor_of_urinary_bladder\|Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135779166	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779169	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779169	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779171	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779171	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Lymphangiomyomatosis\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779172	G	A	single_nucleotide_variant	Pathogenic	Focal_cortical_dysplasia_type_II\|Malignant_tumor_of_urinary_bladder\|Tuberous_sclerosis_1\|Lymphangiomyomatosis\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135779172	GGAGGG	AAGTGT	Indel	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135779173	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779174	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779175	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779175	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779177	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779178	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779180	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779180	C	CG	Duplication	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779180	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779180	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779181	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779182	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779182	G	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779189	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779190	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779192	G	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135779193	AAGG	A	Microsatellite	Uncertain_significance	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
TSC1	chr9	135779195	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779196	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779198	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779198	GGA	G	Microsatellite	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779201	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779202	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779206	T	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135779209	T	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135779209	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135779211	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135779212	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135779212	TA	T	Deletion	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135779214	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135779530	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135779783	AAGTAACAACTTTACCTCCAAAGT	A	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135779790	A	AAC	Duplication	Uncertain_significance	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135779792	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135779792	CT	C	Deletion	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135779796	A	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135779796	A	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135779797	C	T	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135779798	C	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779798	CTCCAAAGTGGG	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779799	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779800	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779801	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779805	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779805	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779806	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779806	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779807	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779808	G	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779809	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779811	C	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135779812	C	T	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135779813	A	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779815	TC	T	Deletion	Pathogenic	Tuberous_sclerosis_syndrome\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779816	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779816	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779816	CG	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779817	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779817	G	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779818	A	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779819	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779821	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779821	G	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779823	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779826	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779827	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779829	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779832	T	TAAAGGCAACCTAAA	Insertion	Pathogenic	Tuberous_sclerosis_1
TSC1	chr9	135779833	A	C	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135779833	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779834	AAGGC	A	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135779836	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135779840	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779841	C	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135779842	C	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135779842	C	G	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135779842	C	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135779843	T	C	single_nucleotide_variant	Pathogenic	not_provided	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135779843	T	G	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135779845	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135779846	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135779848	A	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135779849	G	GA	Duplication	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135779860	A	C	single_nucleotide_variant	Benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135779894	C	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135779895	G	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135780006	TACACTGG	T	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135780835	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135780895	CCT	C	Microsatellite	not_provided	Malignant_tumor_of_urinary_bladder	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135780951	G	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135780959	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135780962	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135780963	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135780965	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135780966	A	C	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135780967	C	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135780967	C	T	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_syndrome\|not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135780968	T	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135780969	T	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135780969	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135780970	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135780977	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135780978	C	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135780980	T	TTGCTGTGCGCGTCTGCTCCC	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135780985	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135780988	C	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135780988	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135780989	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135780990	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135780991	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|none_provided\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135780991	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135780995	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135780997	T	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135780998	C	G	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781000	CT	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781002	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781003	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781005	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781005	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781005	G	GT	Duplication	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781005	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781005	GTA	G	Deletion	not_provided	Malignant_tumor_of_urinary_bladder	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781005	GTATC	CCCTGA	Indel	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781008	TCA	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781009	C	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781011	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781015	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781016	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781021	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781022	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781022	AC	A	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781026	C	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781026	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781028	A	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781029	T	C	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781030	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781031	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781038	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781040	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781043	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781043	G	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781044	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781049	C	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781049	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781053	CT	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781054	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781056	CCT	C	Microsatellite	Pathogenic	Malignant_tumor_of_urinary_bladder\|Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781057	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781059	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781059	CTG	C	Microsatellite	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781059	CTGTGTTTCCTTTTGCTTTCTTT	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781066	TC	T	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781067	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781068	C	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781068	CT	C	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781070	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781073	GCTTT	G	Microsatellite	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781074	C	CT	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781074	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781075	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781077	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781077	T	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781078	CT	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781080	T	G	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781080	TT	GC	Indel	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781081	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781082	A	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781082	A	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781083	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781084	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781086	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781087	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781087	CTCCTCAGTCT	C	Deletion	Pathogenic	Lymphangiomyomatosis	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781088	T	TCCTC	Duplication	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781089	C	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781089	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781091	T	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781093	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781094	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781094	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781096	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781102	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781105	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781105	GAC	G	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781107	CA	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781109	AA	TT	Inversion	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781110	A	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781111	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781113	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781113	GA	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781115	TG	T	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781116	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781116	G	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781117	G	A	single_nucleotide_variant	Benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781117	G	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781119	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781121	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781123	CT	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781126	T	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781132	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781137	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781140	C	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781140	C	CAA	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781140	CAA	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781143	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781146	G	A	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781147	A	T	single_nucleotide_variant	Benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781148	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781149	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781151	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781151	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781152	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781152	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781153	A	ATACG	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781154	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781156	C	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781156	C	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781156	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781157	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781157	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781157	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781160	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781161	G	T	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781163	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781163	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781165	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781167	GC	G	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781169	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781170	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781171	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781171	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781172	C	CT	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781172	C	CTT	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781176	CA	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781178	AAGCCC	A	Deletion	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781180	G	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781183	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781183	CA	C	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781184	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781185	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781186	T	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781188	T	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781188	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781189	C	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781189	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781190	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781190	G	GTC	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781192	C	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781192	C	T	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781193	G	A	single_nucleotide_variant	Benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781193	G	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781194	G	A	single_nucleotide_variant	Benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781197	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781197	GTGGAATTTTAC	TG	Indel	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781198	T	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781198	T	G	single_nucleotide_variant	Likely_benign	Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781198	TG	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781199	GGAATTTTAC	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001820\|inframe_indel	SO:0001820\|inframe_indel
TSC1	chr9	135781200	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781204	T	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781205	T	C	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|none_provided\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781206	T	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781206	T	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781206	TA	T	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781207	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781208	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781209	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781212	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781213	A	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781214	C	G	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781214	CTG	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781216	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781217	GGAGTGAAGATACTGGTCTCCA	C	Indel	not_provided	Malignant_tumor_of_urinary_bladder	SO:0001820\|inframe_indel	SO:0001820\|inframe_indel
TSC1	chr9	135781218	G	GA	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781220	G	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|none_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781221	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781222	GAAGATACTGGTCTCCA	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781227	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781228	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781228	AC	A	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781230	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781231	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781232	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781234	C	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781236	C	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781236	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781237	CA	C	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781239	A	G	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Malignant_tumor_of_urinary_bladder\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|none_provided\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781240	AG	A	Deletion	Pathogenic	Inborn_genetic_diseases	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781241	G	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781242	A	AAGTCTGGC	Duplication	Pathogenic	Tuberous_sclerosis_1\|Lymphangiomyomatosis	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781244	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781244	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781245	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781246	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781248	G	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781248	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781249	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781251	AT	A	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781252	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781255	CCT	C	Deletion	Pathogenic	Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781259	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781259	T	TCTCCCGCAGGGCTTTCATCAGCA	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781259	TCTC	T	Deletion	Uncertain_significance	Tuberous_sclerosis_1	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
TSC1	chr9	135781261	T	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781261	T	TC	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781261	TCC	T	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781261	TCCCGCA	GC	Indel	Likely_pathogenic	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781262	C	CCCGCAGGGCTTTCATCAGCACTG	Duplication	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781262	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781262	CCCGCAGGGCTTTCATCAGCACTG	C	Deletion	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781264	C	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781264	C	T	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781265	G	A	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781267	AG	A	Deletion	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781268	G	GGA	Insertion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781271	CTT	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781277	T	C	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781277	TC	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781278	C	G	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781278	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781280	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781281	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781284	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781284	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781286	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|History_of_neurodevelopmental_disorder	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781287	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781288	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781288	G	GC	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781288	G	T	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781291	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781293	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781295	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781295	AG	A	Deletion	not_provided	Malignant_tumor_of_urinary_bladder\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781296	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781297	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781297	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781300	TA	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781302	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781302	TG	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781317	G	C	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781317	GCTTTGGTGTGTCAGGCC	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781318	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781322	G	A	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781330	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781333	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781334	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781337	A	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781337	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781339	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781341	T	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781341	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781342	G	C	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781346	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781348	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781349	GA	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781350	AG	A	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781351	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781352	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781354	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781355	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781358	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781361	G	A	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781362	GC	CA	Indel	Likely_benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781362	GCTCAGGGTTCACGCTGGCGCC	G	Deletion	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
TSC1	chr9	135781365	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781368	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781369	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781371	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781374	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781374	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|History_of_neurodevelopmental_disorder	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781375	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781376	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Malignant_tumor_of_breast\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781376	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781380	C	A	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781380	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|History_of_neurodevelopmental_disorder\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781381	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781383	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781383	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781383	CCT	C	Deletion	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781384	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781384	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781385	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781386	G	A	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Malignant_tumor_of_urinary_bladder\|Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781388	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781391	C	G	single_nucleotide_variant	Benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781391	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781392	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781393	G	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781394	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781395	AG	TTCAC	Indel	Likely_pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781396	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781398	C	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781398	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781400	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781401	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781402	C	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781402	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|History_of_neurodevelopmental_disorder\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781403	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781403	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781404	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781405	GT	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781407	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781408	G	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781415	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781416	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781416	G	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781416	GCTGAGAAC	CA	Indel	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781419	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781420	AGAAC	A	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781422	A	AC	Insertion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781423	A	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781424	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781426	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781428	GGA	G	Microsatellite	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781431	G	GA	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781431	GA	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781432	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781433	C	CT	Duplication	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781433	CTG	C	Deletion	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781435	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781437	C	T	single_nucleotide_variant	Benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781437	CT	C	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781438	T	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781439	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781440	G	A	single_nucleotide_variant	Pathogenic	Focal_cortical_dysplasia_type_II\|Malignant_tumor_of_urinary_bladder\|Tuberous_sclerosis_1\|Lymphangiomyomatosis\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781442	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781446	AG	A	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781448	G	GGA	Microsatellite	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781448	GGA	G	Microsatellite	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781449	G	GA	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781455	C	CA	Duplication	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781459	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781460	CCTCCTCGAGGAACCACAGG	C	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781461	CT	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781462	T	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781464	C	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781466	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781467	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Lymphangiomyomatosis\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781467	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781468	A	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781473	CCA	C	Microsatellite	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781474	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781476	C	G	single_nucleotide_variant	Benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781476	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781477	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781482	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781483	T	TG	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781485	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781489	T	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781492	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781492	T	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781492	TGTG	T	Microsatellite	Uncertain_significance	Tuberous_sclerosis_1	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
TSC1	chr9	135781493	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781494	TG	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781495	G	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781496	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781500	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781501	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781503	C	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781503	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781505	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Primitive_neuroectodermal_tumor\|Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781509	G	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781512	C	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781512	CT	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781514	C	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781515	T	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135781517	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781517	GAT	G	Microsatellite	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781519	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781520	ATT	G	Indel	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781522	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781522	T	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135781523	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135781523	GC	G	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135781527	C	G	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135781527	C	T	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135781528	T	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135781528	T	C	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135781530	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135781531	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135781532	A	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135781533	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135781533	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135781534	GAAGAGAGGAAAC	G	Deletion	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135781536	A	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135781539	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135781551	G	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135781563	G	A	single_nucleotide_variant	Benign	Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135781709	G	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135781735	C	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135781848	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135781935	C	CA	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135781935	C	CAAAA	Duplication	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135781935	CA	C	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782026	C	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782108	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782110	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782112	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782113	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782117	CCTT	C	Microsatellite	Uncertain_significance	Tuberous_sclerosis_1	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
TSC1	chr9	135782121	CTTCT	C	Deletion	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135782122	T	C	single_nucleotide_variant	Likely_benign	Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782122	T	TTC	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135782123	T	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782124	C	CT	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135782124	CTTT	C	Deletion	Uncertain_significance	not_specified	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
TSC1	chr9	135782125	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782126	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782138	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782141	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782141	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782143	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782143	ATCT	A	Microsatellite	Uncertain_significance	Tuberous_sclerosis_1	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
TSC1	chr9	135782144	T	TA	Insertion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135782146	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782149	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782153	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782153	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782157	CCAGATCACCTAAAAACCCTGGAAGATCACTTAGAGTGA	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135782160	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782164	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782165	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782166	CT	C	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135782167	T	TA	Duplication	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135782167	TA	T	Deletion	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135782171	A	G	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782176	TG	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135782180	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782185	A	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782186	CT	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135782187	T	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782188	T	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782188	T	TA	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135782188	TAG	T	Microsatellite	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135782189	A	ATC	Insertion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135782191	AG	A	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135782198	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782201	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Craniopharyngioma\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782201	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782202	C	G	single_nucleotide_variant	not_provided	Malignant_tumor_of_urinary_bladder	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782206	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782209	G	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782212	A	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782212	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782213	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782214	G	A	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Autism_spectrum_disorder\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782216	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782217	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782217	GC	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135782218	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782220	C	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135782221	T	C	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|none_provided\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782225	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782277	G	C	single_nucleotide_variant	Benign	Tuberous_sclerosis_syndrome\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782396	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782479	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782501	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782674	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782675	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_syndrome\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782679	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782679	A	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782681	A	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782681	A	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782681	AT	A	Deletion	Benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782683	T	C	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782686	A	AC	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135782689	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782689	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782690	G	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135782690	G	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135782693	C	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Lymphangiomyomatosis\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782693	CCT	C	Microsatellite	Likely_pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135782694	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782697	T	A	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135782698	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782704	C	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782706	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782715	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782716	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782718	G	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135782719	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782719	T	TC	Duplication	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135782722	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782722	GTGTAGACATGGTCT	G	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135782723	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782725	T	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782730	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782731	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782731	T	TGGTCCGCGC	Insertion	Uncertain_significance	Tuberous_sclerosis_1	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
TSC1	chr9	135782732	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782735	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782738	G	A	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782738	GC	AG	Indel	Uncertain_significance	Tuberous_sclerosis_1\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782741	GA	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135782741	GAAT	G	Deletion	Uncertain_significance	Tuberous_sclerosis_1	SO:0001820\|inframe_indel	SO:0001820\|inframe_indel
TSC1	chr9	135782745	C	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782748	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782748	TTC	T	Microsatellite	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135782752	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135782757	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135782758	C	T	single_nucleotide_variant	Pathogenic	not_provided	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135782760	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782763	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782763	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782766	A	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782766	AT	A	Deletion	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782769	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_syndrome\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782941	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782947	G	GC	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135782968	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135785643	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135785688	C	CA	Duplication	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135785688	C	CAAAA	Duplication	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135785688	CA	C	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135785852	C	T	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135785870	T	C	single_nucleotide_variant	Benign	Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135785943	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135785948	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135785949	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135785949	G	GGAT	Duplication	Benign/Likely_benign	Tuberous_sclerosis_1\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135785953	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135785954	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135785963	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135785963	TG	T	Deletion	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135785964	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135785964	G	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135785964	G	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135785965	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135785965	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135785966	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135785966	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135785968	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135785968	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135785969	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135785969	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135785969	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135785970	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135785970	TG	T	Deletion	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135785971	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Malignant_tumor_of_urinary_bladder\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135785971	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135785971	GT	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135785973	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135785976	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135785977	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135785982	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135785982	C	T	single_nucleotide_variant	Likely_benign	Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135785983	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135785983	TG	T	Deletion	Pathogenic	Tuberous_sclerosis_1\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135785984	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135785985	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135785986	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135785987	G	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135785988	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135785989	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135785990	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135785990	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135785990	G	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Craniopharyngioma\|Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135785991	T	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135785992	GA	G	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135785997	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135785998	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786002	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786002	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786002	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|History_of_neurodevelopmental_disorder\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786003	G	A	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|History_of_neurodevelopmental_disorder\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786004	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786005	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786009	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786010	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786011	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786011	CCGAATGACAGAGTG	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786012	C	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786012	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786013	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786013	G	T	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135786014	A	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786015	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786017	GA	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786019	CA	C	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786019	CAG	C	Microsatellite	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786021	G	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786023	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786024	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786024	T	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786026	G	A	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786026	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786027	G	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786028	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786030	T	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786030	T	TGGAGGAGGA	Microsatellite	Uncertain_significance	Tuberous_sclerosis_1	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
TSC1	chr9	135786031	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786035	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786037	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786038	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786043	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786044	T	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786054	T	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786054	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786054	T	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786054	TC	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786055	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786056	C	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135786057	CAG	C	Microsatellite	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786058	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786063	AG	A	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786064	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786064	GT	G	Deletion	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786068	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786068	CT	C	Deletion	Pathogenic	Tuberous_sclerosis_syndrome\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786069	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786070	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786073	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786077	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001574\|splice_acceptor_variant,SO:0001583\|missense_variant	SO:0001574\|splice_acceptor_variant,SO:0001583\|missense_variant
TSC1	chr9	135786078	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001574\|splice_acceptor_variant,SO:0001819\|synonymous_variant	SO:0001574\|splice_acceptor_variant,SO:0001819\|synonymous_variant
TSC1	chr9	135786088	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135786099	CAT	C	Microsatellite	Likely_benign	Tuberous_sclerosis_syndrome\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135786112	T	C	single_nucleotide_variant	Benign	Malignant_tumor_of_urinary_bladder\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135786379	A	G	single_nucleotide_variant	Benign	Tuberous_sclerosis_1\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135786380	C	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135786384	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135786388	C	A	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_syndrome\|not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135786388	C	T	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135786391	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786391	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786392	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786393	T	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786394	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786398	CAA	C	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786400	A	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786401	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786403	A	T	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786404	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786404	C	CT	Duplication	Likely_pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786405	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786406	TTACTG	T	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135786407	T	C	single_nucleotide_variant	Uncertain_significance	History_of_neurodevelopmental_disorder	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786409	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786410	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786411	G	GT	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135786414	A	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786415	GGGTGTGACAGATCA	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786416	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786416	G	GGT	Microsatellite	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786417	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786417	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786419	G	GT	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786420	T	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786420	T	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786420	TGACAGATCAGGTGG	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786421	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786423	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786425	G	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786425	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786431	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786433	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786434	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786435	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786439	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786443	CAGG	C	Deletion	Uncertain_significance	Tuberous_sclerosis_1	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
TSC1	chr9	135786446	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786451	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786451	G	T	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Autism_spectrum_disorder\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786452	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786452	T	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786452	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786456	AG	A	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786463	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786464	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786465	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786467	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786470	C	CGTA	Insertion	Uncertain_significance	not_provided	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
TSC1	chr9	135786471	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786472	C	CA	Duplication	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786472	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786472	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786476	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786479	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786480	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786483	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786484	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786485	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786485	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786489	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786489	C	T	single_nucleotide_variant	Pathogenic	Malignant_tumor_of_urinary_bladder\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135786490	C	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135786491	A	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786491	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786491	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786492	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786494	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786496	GT	G	Deletion	Likely_pathogenic	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Lymphangiomyomatosis	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786498	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786499	GC	G	Deletion	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome
TSC1	chr9	135786500	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786500	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786501	C	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135786503	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135786503	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135786505	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135786505	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135786506	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135786509	T	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135786514	A	T	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135786806	G	C	single_nucleotide_variant	not_provided	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135786832	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135786834	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135786835	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135786837	T	C	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135786838	A	G	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135786839	C	T	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135786842	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135786843	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786844	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786846	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786847	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786848	GT	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786849	T	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786849	TTCAGTTA	T	Deletion	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786852	AGTTATCAGCC	A	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786853	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786854	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786860	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786861	C	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786861	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786862	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786863	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786863	G	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786864	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786865	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786867	C	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786867	C	T	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786868	G	A	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786868	G	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135786870	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786870	TG	T	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786870	TGG	T	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786872	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|History_of_neurodevelopmental_disorder\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786873	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786874	G	GT	Insertion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786876	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786876	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786878	TCA	T	Deletion	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786879	C	CA	Duplication	Pathogenic	Renal_insufficiency\|Renal_cortical_cysts\|Cortical_dysplasia\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786879	C	CAA	Insertion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786879	CA	C	Deletion	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786879	CAG	C	Microsatellite	Pathogenic	Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786880	A	AG	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786880	A	ATC	Insertion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786881	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786881	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786885	C	CT	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786885	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786887	G	A	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135786890	GTAGCTGCCCTGGCA	G	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786891	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786893	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786894	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786895	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786896	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135786897	C	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786900	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786901	G	A	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786902	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786903	C	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786903	CA	AG	Indel	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786903	CA	TG	Inversion	Likely_benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786903	CATATTTA	C	Deletion	Pathogenic	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786904	A	G	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Malignant_tumor_of_urinary_bladder\|Malignant_tumor_of_breast\|Tuberous_sclerosis_1\|Lymphangiomyomatosis\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|none_provided\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786909	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786909	TAAC	T	Microsatellite	Conflicting_interpretations_of_pathogenicity	Seizures\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|none_provided\|not_provided	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
TSC1	chr9	135786914	A	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786918	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786920	G	A	single_nucleotide_variant	Likely_benign	Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786922	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786922	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786923	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786923	G	GA	Duplication	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135786926	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786927	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786928	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Lymphangiomyomatosis\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786929	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786930	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786931	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786933	G	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135786934	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786934	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786935	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786937	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786937	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786937	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786938	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786938	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786939	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786940	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786946	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786948	A	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786949	G	A	single_nucleotide_variant	Benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786951	A	G	single_nucleotide_variant	Likely_benign	Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786952	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786953	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135786954	C	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786954	C	G	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786954	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135786957	T	C	single_nucleotide_variant	Pathogenic	not_provided	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135786958	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135786959	A	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135786962	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135786965	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135786973	A	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135787012	TA	T	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135787012	TAA	T	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135787012	TAAAAA	T	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135787012	TAAAAAA	T	Deletion	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135787660	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135787661	C	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135787662	T	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135787663	TTTTACCA	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135787665	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135787666	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135787667	ACCATAGCTATTCTG	A	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135787668	C	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135787668	C	T	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_syndrome\|not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135787669	C	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787669	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787670	A	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135787670	A	G	single_nucleotide_variant	Benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787678	T	TC	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135787679	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787679	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787679	CTG	C	Microsatellite	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135787680	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787681	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135787683	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787684	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787690	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787690	CA	C	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135787691	A	C	single_nucleotide_variant	not_provided	Lymphangiomyomatosis\|Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135787691	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787691	A	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135787695	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787695	G	GGGCTGGTGGTGACATC	Duplication	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135787696	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787698	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787699	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787699	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787700	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787701	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787701	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787701	GTGGTGACATCGGCTGAACGATGAGGAAAGCG	AACGATGAGGAAAGC	Indel	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135787702	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787702	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787703	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787704	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787704	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787706	G	A	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787706	G	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787708	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787709	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787711	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787712	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787712	G	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787715	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787716	G	C	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135787719	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787720	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787720	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787723	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787725	G	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787726	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787726	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787729	A	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787730	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787731	C	CG	Duplication	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135787731	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787732	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787732	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787734	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787735	C	CT	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135787735	CT	C	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135787737	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787737	G	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135787742	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787744	G	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135787746	TGA	T	Microsatellite	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135787749	GAC	G	Microsatellite	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135787750	AC	A	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135787751	C	G	single_nucleotide_variant	Likely_benign	Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787752	A	G	single_nucleotide_variant	Benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787754	A	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787755	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787756	A	AAT	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135787756	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787757	A	C	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135787758	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787763	A	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787763	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787764	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787768	C	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135787768	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787768	CAT	C	Microsatellite	Pathogenic	Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135787769	A	C	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135787769	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787769	A	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135787772	T	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787773	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787773	G	T	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135787776	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787778	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787784	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787785	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787790	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787797	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787800	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|History_of_neurodevelopmental_disorder\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787800	T	G	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787802	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787803	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787805	ACACTCGAT	A	Deletion	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135787806	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787808	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787810	C	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135787810	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787810	CG	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135787811	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787811	G	C	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787811	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787812	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787812	A	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787817	A	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787820	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787821	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787823	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787826	A	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787831	C	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135787832	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787832	T	TA	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135787832	TA	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135787833	A	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135787833	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787833	A	T	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135787834	ATCTCTTCCACCTGTAAAATGCAATGAAAGTCAAGAAATGCAAACTG	A	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135787836	C	A	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135787836	CT	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135787837	T	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135787840	T	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135787841	CCACCT	C	Deletion	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135787842	C	T	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135787844	C	T	single_nucleotide_variant	not_provided	not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135787845	C	T	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135787846	T	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|not_provided	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135787846	T	C	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135787853	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135787854	G	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135787864	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_syndrome\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135791103	G	A	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135796467	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135796608	A	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135796737	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135796740	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135796740	G	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135796747	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135796748	A	ACC	Duplication	Pathogenic	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135796748	A	G	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135796748	AC	A	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135796749	C	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_syndrome\|not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135796749	C	T	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135796750	C	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135796750	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135796752	T	TC	Duplication	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135796753	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135796753	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135796754	G	A	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135796754	GA	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135796755	AG	A	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135796757	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135796762	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135796763	G	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135796766	C	CT	Insertion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135796767	A	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135796773	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135796775	T	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135796776	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135796777	G	GA	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135796785	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135796789	A	C	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135796791	T	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135796792	TC	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135796793	C	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135796794	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135796795	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135796797	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135796798	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135796804	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135796805	G	A	single_nucleotide_variant	Pathogenic	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Lymphangiomyomatosis\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135796807	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135796808	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135796816	A	C	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135796816	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135796816	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135796817	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135796820	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135796821	TG	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135796824	C	G	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135796824	C	T	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Malignant_tumor_of_urinary_bladder\|Tuberous_sclerosis_1\|not_provided	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135796825	T	C	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135796827	G	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135796829	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135796830	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135796832	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135796833	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135796838	T	C	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135797166	A	AG	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135797171	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135797177	T	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135797196	T	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135797197	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135797198	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135797199	A	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135797199	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135797199	A	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135797205	C	CCTTGACCACTTCT	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135797205	C	T	single_nucleotide_variant	Pathogenic/Likely_pathogenic	Malignant_tumor_of_urinary_bladder\|Tuberous_sclerosis_1\|not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135797206	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797208	T	A	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135797209	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797210	AC	A	Deletion	Likely_pathogenic	Cortical_tubers\|Adenoma_sebaceum	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135797211	C	A	single_nucleotide_variant	not_provided	Malignant_tumor_of_urinary_bladder	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797212	C	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797212	C	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797214	C	CT	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135797218	T	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797220	CA	C	Deletion	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135797220	CAA	C	Deletion	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135797222	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797228	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797229	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797230	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797231	A	AG	Duplication	Pathogenic	Hereditary_cancer-predisposing_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135797232	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797233	GTT	G	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135797236	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797244	T	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797244	TA	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135797246	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797247	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797251	A	G	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797252	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797254	A	G	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797258	C	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797258	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797259	G	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797260	C	CAA	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135797264	AAGG	A	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
TSC1	chr9	135797265	AGGAGACG	A	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135797266	G	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797267	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797269	G	GA	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135797271	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797271	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_specified	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797272	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797272	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797273	AAGT	A	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001820\|inframe_indel	SO:0001820\|inframe_indel
TSC1	chr9	135797274	AGTTGC	A	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135797276	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797277	T	TG	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135797278	G	A	single_nucleotide_variant	Likely_benign	Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797278	G	GC	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135797281	AG	A	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135797284	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797284	G	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135797288	A	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797288	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797289	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797290	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797293	A	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135797293	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797293	AT	A	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135797294	TA	T	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135797295	A	G	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797297	A	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797297	A	G	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797297	A	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797298	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797299	GC	G	Deletion	not_provided	Malignant_tumor_of_urinary_bladder	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135797300	C	G	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797300	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797301	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797304	GAA	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135797306	A	AAG	Microsatellite	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135797309	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797311	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797313	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797313	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797314	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797314	G	C	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135797314	G	T	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135797317	C	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797320	A	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797321	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797323	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797327	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797327	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797327	T	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797328	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797329	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797329	G	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797330	A	G	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797334	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797337	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797338	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797338	GA	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135797340	GAT	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135797342	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797342	T	TA	Duplication	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135797344	G	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797344	G	GA	Duplication	not_provided	Malignant_tumor_of_urinary_bladder	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135797345	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797346	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797348	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797349	C	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135797350	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797351	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Lymphangiomyomatosis\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797353	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797354	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797355	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797355	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135797356	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135797361	C	G	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135797361	C	T	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135797364	G	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135797365	A	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135797365	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135797368	AG	A	Deletion	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135797369	G	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135797370	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135797375	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_syndrome\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135798636	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135798717	A	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135798728	T	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135798729	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135798732	T	C	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135798734	C	A	single_nucleotide_variant	not_provided	not_provided	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135798734	C	G	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135798734	C	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135798735	CT	C	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135798736	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135798738	GT	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135798740	T	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798748	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135798748	G	T	single_nucleotide_variant	Pathogenic	Lymphangiomyomatosis	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135798751	C	A	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798751	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798751	C	T	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135798752	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798752	C	T	single_nucleotide_variant	Pathogenic	Lymphangiomyomatosis\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135798752	CATG	C	Microsatellite	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
TSC1	chr9	135798754	T	A	single_nucleotide_variant	Likely_benign	Malignant_tumor_of_urinary_bladder\|Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135798754	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135798758	G	T	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135798759	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798761	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798764	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798765	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798768	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798770	A	C	single_nucleotide_variant	not_provided	Malignant_tumor_of_urinary_bladder	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798770	A	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798774	T	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798775	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135798776	T	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798781	GA	G	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135798783	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798786	CA	C	Deletion	Likely_pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135798788	AGAAG	GAAA	Indel	Pathogenic	not_provided	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135798791	A	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798795	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798798	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135798798	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798799	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135798803	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798808	CTG	C	Microsatellite	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135798810	G	A	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135798811	T	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135798812	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798818	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798819	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798820	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135798822	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798823	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135798824	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798825	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798825	GCATGGTTATCAA	AC	Indel	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135798830	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798831	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798836	AACACCAAGAC	A	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135798837	ACACCAAGACGC	TG	Indel	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135798837	ACACCAAGACGCCT	A	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135798840	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798840	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798841	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135798841	CAAGACGCCTGTTGTGAGG	C	Deletion	Uncertain_significance	Tuberous_sclerosis_1	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
TSC1	chr9	135798844	G	GA	Duplication	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135798846	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798846	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798847	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135798848	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798848	C	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798851	G	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798852	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798852	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798853	TG	A	Indel	Pathogenic	Hereditary_cancer-predisposing_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135798854	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798857	A	AG	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant	SO:0001589\|frameshift_variant
TSC1	chr9	135798858	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798859	GACA	G	Deletion	Uncertain_significance	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001822\|inframe_deletion	SO:0001822\|inframe_deletion
TSC1	chr9	135798860	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798862	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135798863	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798864	C	CACG	Insertion	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001821\|inframe_insertion	SO:0001821\|inframe_insertion
TSC1	chr9	135798864	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798865	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135798867	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798868	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135798870	C	CA	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense	SO:0001587\|nonsense
TSC1	chr9	135798873	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798873	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798874	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant	SO:0001819\|synonymous_variant
TSC1	chr9	135798875	T	G	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant	SO:0001583\|missense_variant
TSC1	chr9	135798878	A	G	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant
TSC1	chr9	135798879	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant	SO:0001582\|initiatior_codon_variant,SO:0001583\|missense_variant
TSC1	chr9	135798880	C	G	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135798881	T	C	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135798884	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135798885	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135798886	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135798886	G	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135798888	G	GA	Duplication	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135798889	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135800307	T	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135800927	A	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135800955	ATCCTTACAAACATCCT	A	Deletion	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135800965	ACATC	A	Deletion	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135800968	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135800968	TCCTA	T	Deletion	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001575\|splice_donor_variant,SO:0001627\|intron_variant	SO:0001575\|splice_donor_variant,SO:0001627\|intron_variant
TSC1	chr9	135800969	C	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135800971	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135800972	A	AC	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001575\|splice_donor_variant,SO:0001627\|intron_variant	SO:0001575\|splice_donor_variant,SO:0001627\|intron_variant
TSC1	chr9	135800973	C	A	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001575\|splice_donor_variant,SO:0001627\|intron_variant	SO:0001575\|splice_donor_variant,SO:0001627\|intron_variant
TSC1	chr9	135800973	C	T	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001575\|splice_donor_variant,SO:0001627\|intron_variant	SO:0001575\|splice_donor_variant,SO:0001627\|intron_variant
TSC1	chr9	135800974	C	A	single_nucleotide_variant	Likely_pathogenic	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135800974	C	G	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135800974	C	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135800975	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135800975	T	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135800978	A	G	single_nucleotide_variant	Uncertain_significance	Renal_angiomyolipoma\|Astrocytoma\|Angiofibromas	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135800979	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135800981	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135800981	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135800987	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135800989	T	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135800989	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135800989	T	G	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135800990	AAAG	A	Microsatellite	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001822\|inframe_deletion,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001822\|inframe_deletion,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135800991	A	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Autism_spectrum_disorder\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135800992	AG	A	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135800993	GA	G	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135800995	A	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135800997	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135800998	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135800998	CA	C	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801001	A	AAG	Microsatellite	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801003	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801006	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801007	T	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801008	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801008	GCTT	G	Deletion	Uncertain_significance	Tuberous_sclerosis_1	SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant,SO:0001820\|inframe_indel	SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant,SO:0001820\|inframe_indel
TSC1	chr9	135801011	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801011	TGA	T	Microsatellite	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801012	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001587\|nonsense,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801012	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801014	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801015	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801016	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801020	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801023	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801025	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801028	C	T	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001587\|nonsense,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801029	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801029	C	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801032	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801033	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801033	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801034	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801037	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801039	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801042	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801046	T	C	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801048	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801048	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801050	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801051	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801059	A	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801059	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801059	A	T	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801060	G	GT	Duplication	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801060	G	GTT	Insertion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801061	T	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801064	C	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801064	C	T	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified\|not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801064	CGA	C	Microsatellite	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801065	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801065	G	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001587\|nonsense,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801065	GA	G	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801067	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801067	G	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801071	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801072	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801074	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801075	A	AT	Duplication	Pathogenic	Tuberous_sclerosis_1\|not_provided	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801076	T	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801076	T	TTC	Insertion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801077	A	C	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_syndrome\|not_provided	SO:0001587\|nonsense,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801080	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801081	G	A	single_nucleotide_variant	Uncertain_significance	not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801082	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801084	T	TG	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801087	C	T	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801088	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801089	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801090	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801092	T	G	single_nucleotide_variant	not_provided	Malignant_tumor_of_urinary_bladder	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801094	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801096	CCA	C	Microsatellite	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801099	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801100	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801101	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801102	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801105	C	A	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801106	G	A	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801110	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801116	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801118	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801119	A	T	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801120	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801122	A	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801123	G	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801124	G	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant,SO:0001627\|intron_variant
TSC1	chr9	135801127	C	A	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001574\|splice_acceptor_variant,SO:0001627\|intron_variant	SO:0001574\|splice_acceptor_variant,SO:0001627\|intron_variant
TSC1	chr9	135801127	C	T	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001574\|splice_acceptor_variant,SO:0001627\|intron_variant	SO:0001574\|splice_acceptor_variant,SO:0001627\|intron_variant
TSC1	chr9	135801128	T	G	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001574\|splice_acceptor_variant,SO:0001627\|intron_variant	SO:0001574\|splice_acceptor_variant,SO:0001627\|intron_variant
TSC1	chr9	135801129	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135801133	A	C	single_nucleotide_variant	Likely_pathogenic	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135801134	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135801135	GT	G	Deletion	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135801136	T	TA	Duplication	Likely_benign	Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135801137	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135801142	A	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135801283	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135801412	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135802298	A	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135802555	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135802570	T	C	single_nucleotide_variant	Benign	Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135802572	A	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135802575	T	C	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135802579	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135802581	C	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135802583	A	G	single_nucleotide_variant	Benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135802587	C	T	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001575\|splice_donor_variant,SO:0001627\|intron_variant	SO:0001575\|splice_donor_variant,SO:0001627\|intron_variant
TSC1	chr9	135802588	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802588	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802590	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802592	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802595	T	C	single_nucleotide_variant	not_provided	Malignant_tumor_of_urinary_bladder	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802597	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified\|not_provided	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802597	T	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802598	GGCTCTTGCA	G	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant,SO:0001820\|inframe_indel	SO:0001627\|intron_variant,SO:0001820\|inframe_indel
TSC1	chr9	135802603	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802605	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001627\|intron_variant
TSC1	chr9	135802606	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802607	A	T	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001627\|intron_variant
TSC1	chr9	135802608	AGGTGGTCAG	A	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001822\|inframe_deletion,SO:0001627\|intron_variant	SO:0001822\|inframe_deletion,SO:0001627\|intron_variant
TSC1	chr9	135802610	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802612	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802612	G	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_specified	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802615	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802616	A	AG	Duplication	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant
TSC1	chr9	135802616	A	C	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802616	A	G	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802616	AG	A	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001627\|intron_variant
TSC1	chr9	135802617	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_specified	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802618	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802618	G	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802621	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802622	T	A	single_nucleotide_variant	Benign	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802626	A	G	single_nucleotide_variant	Likely_benign	History_of_neurodevelopmental_disorder	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802627	T	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802630	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802631	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802632	G	A	single_nucleotide_variant	Benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802635	G	A	single_nucleotide_variant	not_provided	Malignant_tumor_of_urinary_bladder\|Tuberous_sclerosis_syndrome	SO:0001587\|nonsense,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001627\|intron_variant
TSC1	chr9	135802639	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802640	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802642	G	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802645	T	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802649	A	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802649	AG	A	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant
TSC1	chr9	135802651	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802651	GT	G	Deletion	Pathogenic	Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant
TSC1	chr9	135802652	TA	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant
TSC1	chr9	135802663	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802664	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802664	A	T	single_nucleotide_variant	Pathogenic	not_provided	SO:0001587\|nonsense,SO:0001627\|intron_variant	SO:0001587\|nonsense,SO:0001627\|intron_variant
TSC1	chr9	135802665	A	AG	Duplication	not_provided	Malignant_tumor_of_urinary_bladder	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant
TSC1	chr9	135802665	A	AGG	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant
TSC1	chr9	135802665	A	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802667	G	GT	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant
TSC1	chr9	135802668	T	A	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802668	T	C	single_nucleotide_variant	Benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802669	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802672	T	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802673	A	T	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802675	A	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802677	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802677	G	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802678	C	CATAG	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant
TSC1	chr9	135802678	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802680	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802682	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802683	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802683	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802684	G	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802686	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802686	CA	C	Deletion	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant
TSC1	chr9	135802687	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802688	C	CG	Duplication	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant	SO:0001589\|frameshift_variant,SO:0001627\|intron_variant
TSC1	chr9	135802688	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802689	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802689	G	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802690	G	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant	SO:0001819\|synonymous_variant,SO:0001627\|intron_variant
TSC1	chr9	135802691	T	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001627\|intron_variant	SO:0001583\|missense_variant,SO:0001627\|intron_variant
TSC1	chr9	135802692	C	T	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1\|not_provided	SO:0001574\|splice_acceptor_variant,SO:0001627\|intron_variant	SO:0001574\|splice_acceptor_variant,SO:0001627\|intron_variant
TSC1	chr9	135802693	T	C	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001574\|splice_acceptor_variant,SO:0001627\|intron_variant	SO:0001574\|splice_acceptor_variant,SO:0001627\|intron_variant
TSC1	chr9	135802693	T	TAAATC	Duplication	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135802699	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135802802	TAA	T	Deletion	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135802839	T	G	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135803967	C	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135804107	T	G	single_nucleotide_variant	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135804139	T	C	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135804145	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135804145	T	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135804148	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135804149	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135804150	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135804151	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135804152	A	G	single_nucleotide_variant	Likely_pathogenic	Tuberous_sclerosis_1	SO:0001575\|splice_donor_variant	SO:0001575\|splice_donor_variant
TSC1	chr9	135804154	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804155	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804159	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804161	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804163	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804164	G	A	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804164	G	T	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804165	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804167	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804169	C	CTTTAA	Duplication	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804169	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804170	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804171	T	C	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804173	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804178	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804179	A	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804181	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804185	C	CA	Duplication	Pathogenic	not_provided	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804187	C	T	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804188	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804189	TC	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804190	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804191	G	A	single_nucleotide_variant	Benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804192	T	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804195	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804195	C	T	single_nucleotide_variant	Benign	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804196	G	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804199	C	A	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804200	A	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804201	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804201	CCCAGCATGGGGGAGT	C	Deletion	Uncertain_significance	Tuberous_sclerosis_1	SO:0001822\|inframe_deletion,SO:0001623\|5_prime_UTR_variant	SO:0001822\|inframe_deletion,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804202	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804203	C	G	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804206	C	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804209	G	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804213	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804213	G	C	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804215	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804217	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804218	C	T	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|not_specified	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804218	CAGCATGGCAAGAAGCTCC	TTG	Indel	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804221	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804222	A	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804224	G	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804227	A	G	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804232	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804232	G	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804237	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804237	C	G	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804238	C	T	single_nucleotide_variant	Uncertain_significance	Hereditary_cancer-predisposing_syndrome	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804239	G	A	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804239	G	C	single_nucleotide_variant	Benign/Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_specified	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804242	AT	A	Deletion	Pathogenic	Tuberous_sclerosis_1	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant	SO:0001589\|frameshift_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804248	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|not_provided	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804250	G	A	single_nucleotide_variant	Pathogenic	Tuberous_sclerosis_1	SO:0001587\|nonsense,SO:0001623\|5_prime_UTR_variant	SO:0001587\|nonsense,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804251	T	C	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_1	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant	SO:0001819\|synonymous_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804255	G	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant	SO:0001583\|missense_variant,SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804264	T	C	single_nucleotide_variant	Likely_benign	not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804266	G	A	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Hereditary_cancer-predisposing_syndrome\|Tuberous_sclerosis_syndrome\|not_specified\|not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804270	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804275	C	T	single_nucleotide_variant	Likely_benign	Tuberous_sclerosis_syndrome\|not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804276	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804279	G	A	single_nucleotide_variant	Benign	not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804292	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804294	C	T	single_nucleotide_variant	Benign/Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804295	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804303	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804327	G	A	single_nucleotide_variant	Benign	not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135804341	T	C	single_nucleotide_variant	Likely_benign	not_specified\|not_provided	SO:0001574\|splice_acceptor_variant	SO:0001574\|splice_acceptor_variant
TSC1	chr9	135804344	G	A	single_nucleotide_variant	Likely_benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135804349	A	G	single_nucleotide_variant	Conflicting_interpretations_of_pathogenicity	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome\|not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135804389	TA	T	Deletion	not_provided	Tuberous_sclerosis_syndrome	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135810438	G	A	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135810468	T	A	single_nucleotide_variant	Benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1\|Tuberous_sclerosis_syndrome\|not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135810499	T	C	single_nucleotide_variant	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135819796	C	A	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135819913	G	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135819916	A	AC	Duplication	Benign	not_provided	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135819921	C	G	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135819923	T	A	single_nucleotide_variant	Likely_benign	not_specified	SO:0001627\|intron_variant	SO:0001627\|intron_variant
TSC1	chr9	135819930	C	T	single_nucleotide_variant	Uncertain_significance	Tuberous_sclerosis_1\|not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135819942	C	T	single_nucleotide_variant	Likely_benign	not_provided	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135819945	C	T	single_nucleotide_variant	Likely_benign	not_specified	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135819952	T	C	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135819960	T	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135820000	G	A	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_1	SO:0001623\|5_prime_UTR_variant	SO:0001623\|5_prime_UTR_variant
TSC1	chr9	135820013	C	T	single_nucleotide_variant	Uncertain_significance	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0002153\|genic_upstream_transcript_variant	SO:0002153\|genic_upstream_transcript_variant
TSC1	chr9	135820028	C	A	single_nucleotide_variant	Likely_benign	Focal_cortical_dysplasia_type_II\|Tuberous_sclerosis_syndrome	SO:0002153\|genic_upstream_transcript_variant	SO:0002153\|genic_upstream_transcript_variant
TSC1	chr9	135820100	A	G	single_nucleotide_variant	Likely_benign	not_provided	SO:0002153\|genic_upstream_transcript_variant	SO:0002153\|genic_upstream_transcript_variant
TSC1	chr9	135820132	G	T	single_nucleotide_variant	Benign	not_provided	SO:0002153\|genic_upstream_transcript_variant	SO:0002153\|genic_upstream_transcript_variant
TSC1	chr9	135820254	TGTGACTCCGCGAAGGAGGCAAAAAGAAGGGCCGGCGCGGCGGGAGGAGCCACGCGAGAGCCCGAGGGGGCGGGGCGGGCGGTCACGTGACTGGCGGGCGGGGGGACGCGGCGGAGAGGCGTAAACAAGCTGGCGGCGCCTGGGTGTGGTTGGAGCGCCCTGCCCCTGCCCCCCGAGTCGTTTCTGCCCTTCGCTTGCGTGGCGCCCTCCGAGGGTCTCTCTGTGGGCGGCCTCAGAGCAGCGATCCTGTTTCCC	T	Deletion	Uncertain_significance	Tuberous_sclerosis_1	SO:0002153\|genic_upstream_transcript_variant	SO:0002153\|genic_upstream_transcript_variant
TSC1	chr9	135820434	TTTCTGCCCTTCGCTTGCGTGGCGCCCTCCGAGGGTCTCTCTGTGGGCGGCCTCAGAGCAGCGATCCTGTTTCCCAAGGAGCTGCTGGGGCCCGCGTGGGTGAAGGGCCTGCTTGGGAGCTTTGGAGTTGCAGCTCACCTGGGAAGGGGCGGAAAGCTGCGGGCCAGGGCAGCCCTCCTTCCTGGGCTAAACATTTTCAGAAGCCCGCCTCCGGGATTGCGGGGGACCCCCCTGGCTTCTGCCTTCAAGTAGCTC	T	Deletion	Uncertain_significance	Tuberous_sclerosis_1	SO:0002153\|genic_upstream_transcript_variant	SO:0002153\|genic_upstream_transcript_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
TSC1	LIHC	chr9	135772951	135772951	T	-	Frame_Shift_Del	p.N891fs	6
TSC1	BLCA	chr9	135778026	135778026	C	T	Missense_Mutation	p.R786Q	5
TSC1	ESCA	chr9	135787825	135787825	G	T	Missense_Mutation	p.H253N	4
TSC1	BLCA	chr9	135781419	135781419	G	A	Nonsense_Mutation	p.Q516*	4
TSC1	BRCA	chr9	135771828	135771828	G	A	Missense_Mutation	p.R1097C	4
TSC1	BLCA	chr9	135782758	135782758	C	T	Splice_Site		4
TSC1	BLCA	chr9	135779172	135779172	G	A	Nonsense_Mutation	p.R692*	3
TSC1	ESCA	chr9	135782727	135782727	G	C	Missense_Mutation	p.L432V	3
TSC1	BLCA	chr9	135778026	135778026	C	T	Missense_Mutation		3
TSC1	BLCA	chr9	135786887	135786887	G	A	Nonsense_Mutation	p.Q328*	3
TSC1	UCS	chr9	135796771	135796771	T	C	Missense_Mutation	p.D239G	3
TSC1	KIRP	chr9	135781374	135781374	C	T	Missense_Mutation	p.V531M	3
TSC1	LIHC	chr9	135786904	135786904	A	G	Missense_Mutation		3
TSC1	UCEC	chr9	135772056	135772056	G	A	Missense_Mutation	p.P1021S	3
TSC1	BRCA	chr9	135772688	135772688	C	T	Missense_Mutation	p.R953K	3
TSC1	BRCA	chr9	135797350	135797350	C	T	Silent	p.A173	3
TSC1	ESCA	chr9	135777079	135777079	A	C	Missense_Mutation	p.L800R	3
TSC1	BRCA	chr9	135798857	135798857	A	T	Missense_Mutation	p.L129H	3
TSC1	ESCA	chr9	135779102	135779102	C	T	Missense_Mutation	p.R715Q	3
TSC1	UCEC	chr9	135771937	135771937	G	A	Silent	p.S1060	2
TSC1	STAD	chr9	135797351	135797351	G	A	Missense_Mutation	p.A173V	2
TSC1	UCEC	chr9	135797259	135797259	G	A	Missense_Mutation	p.R204C	2
TSC1	CESC	chr9	135801105	135801105	C	T	Missense_Mutation		2
TSC1	KIRC	chr9	135782693	135782693	C	-	Frame_Shift_Del	p.G443fs	2
TSC1	LUAD	chr9	135797349	135797349	C	A	Nonsense_Mutation	p.E174*	2
TSC1	CHOL	chr9	135786449	135786449	A	C	Missense_Mutation	p.S361A	2
TSC1	ESCA	chr9	135777079	135777079	A	C	Missense_Mutation		2
TSC1	LGG	chr9	135798758	135798758	G	A	Missense_Mutation	p.S162L	2
TSC1	UCEC	chr9	135771988	135771990	GCT	-	In_Frame_Del	p.S1043in_frame_del	2
TSC1	STAD	chr9	135771922	135771922	C	T	Silent	p.T1065T	2
TSC1	UCEC	chr9	135798749	135798749	C	T	Missense_Mutation	p.C165Y	2
TSC1	CESC	chr9	135778080	135778080	C	T	Missense_Mutation		2
TSC1	KIRC	chr9	135797252	135797252	T	C	Missense_Mutation	p.H206R	2
TSC1	SARC	chr9	135772703	135772703	T	C	Missense_Mutation		2
TSC1	SKCM	chr9	135804225	135804225	G	A	Missense_Mutation	p.A12V	2
TSC1	HNSC	chr9	135781032	135781032	G	A	Missense_Mutation	p.P645S	2
TSC1	LUSC	chr9	135785964	135785964	G	-	Frame_Shift_Del	p.P419fs	2
TSC1	UCEC	chr9	135777991	135777991	C	T	Splice_Site	e16+1	2
TSC1	STAD	chr9	135771689	135771689	G	A	Missense_Mutation	p.P1143L	2
TSC1	UCEC	chr9	135802658	135802658	T	C	Missense_Mutation	p.D47G	2
TSC1	CESC	chr9	135778087	135778087	C	G	Missense_Mutation		2
TSC1	ESCA	chr9	135796783	135796783	G	T	Missense_Mutation	p.T235N	2
TSC1	LIHC	chr9	135779040	135779040	T	C	Missense_Mutation	p.M736V	2
TSC1	SARC	chr9	135782743	135782743	A	G	Silent		2
TSC1	BLCA	chr9	135781358	135781358	A	T	Nonsense_Mutation	p.L536*	2
TSC1	ESCA	chr9	135787773	135787773	G	A	Missense_Mutation	p.S270L	2
TSC1	LGG	chr9	135798758	135798758	G	A	Missense_Mutation		2
TSC1	BLCA	chr9	135802692	135802692	C	A	Splice_Site		2
TSC1	BLCA	chr9	135776115	135776115	G	C	Nonsense_Mutation	p.S871*	2
TSC1	UCEC	chr9	135778016	135778016	G	A	Silent	p.F789	2
TSC1	STAD	chr9	135786042	135786042	G	T	Silent	p.T393T	2
TSC1	CESC	chr9	135781123	135781123	C	A	Missense_Mutation		2
TSC1	ESCA	chr9	135772688	135772688	C	A	Missense_Mutation	p.R953M	2
TSC1	KIRP	chr9	135781381	135781381	G	A	Silent	p.G528G	2
TSC1	SKCM	chr9	135796799	135796799	G	A	Missense_Mutation	p.H230Y	2
TSC1	LUAD	chr9	135797337	135797337	C	G	Missense_Mutation	p.V178L	2
TSC1	LIHC	chr9	135779040	135779040	T	C	Missense_Mutation		2
TSC1	UCEC	chr9	135779130	135779130	G	A	Missense_Mutation	p.R706C	2
TSC1	BLCA	chr9	135802666	135802666	G	-	Frame_Shift_Del	p.T44fs	2
TSC1	STAD	chr9	135801087	135801087	C	T	Missense_Mutation	p.A84T	2
TSC1	CESC	chr9	135797308	135797308	G	C	Silent		2
TSC1	ESCA	chr9	135786044	135786044	T	A	Missense_Mutation	p.T393S	2
TSC1	BLCA	chr9	135797300	135797300	C	G	Missense_Mutation	p.R190P	2
TSC1	LIHC	chr9	135797282	135797282	G	A	Missense_Mutation	p.P196L	2
TSC1	UCEC	chr9	135780991	135780991	G	A	Silent	p.D658	2
TSC1	STAD	chr9	135804196	135804196	G	A	Missense_Mutation	p.R22W	2
TSC1	CESC	chr9	135801121	135801121	G	C	Silent		2
TSC1	ESCA	chr9	135787825	135787825	G	T	Missense_Mutation		2
TSC1	SARC	chr9	135772703	135772703	T	C	Missense_Mutation	p.Y948C	2
TSC1	UCEC	chr9	135781106	135781106	A	G	Missense_Mutation	p.V620A	2
TSC1	BRCA	chr9	135772703	135772703	T	A	Missense_Mutation	p.Y948F	2
TSC1	LIHC	chr9	135779080	135779080	C	A	Missense_Mutation	p.K722N	2
TSC1	STAD	chr9	135771817	135771817	G	A	Silent	p.S1100S	2
TSC1	CESC	chr9	135801105	135801105	C	T	Missense_Mutation	p.E78K	2
TSC1	ESCA	chr9	135782727	135782727	G	C	Missense_Mutation		2
TSC1	UCEC	chr9	135781379	135781379	G	A	Missense_Mutation	p.A529V	2
TSC1	ESCA	chr9	135772673	135772673	A	G	Missense_Mutation	p.F958S	2
TSC1	BLCA	chr9	135778175	135778175	C	G	Splice_Site		2
TSC1	ESCA	chr9	135779102	135779102	C	T	Missense_Mutation		2
TSC1	LIHC	chr9	135797282	135797282	G	A	Missense_Mutation		2
TSC1	SKCM	chr9	135802642	135802642	G	A	Silent	p.T52T	2
TSC1	STAD	chr9	135772974	135772974	G	T	Silent	p.A883A	2
TSC1	UCEC	chr9	135782125	135782125	T	G	Missense_Mutation	p.K477N	2
TSC1	BLCA	chr9	135777087	135777087	C	A	Splice_Site		2
TSC1	LIHC	chr9	135779080	135779080	C	A	Missense_Mutation		2
TSC1	SKCM	chr9	135797353	135797353	C	T	Silent	p.V172V	2
TSC1	BLCA	chr9	135781236	135781236	C	A	Nonsense_Mutation	p.E577*	2
TSC1	UCEC	chr9	135771902	135771902	G	A	Missense_Mutation	p.A1072V	2
TSC1	STAD	chr9	135786003	135786003	G	A	Silent	p.Y406Y	2
TSC1	UCEC	chr9	135786448	135786448	G	T	Missense_Mutation	p.S361Y	2
TSC1	LIHC	chr9	135781136	135781136	A	G	Missense_Mutation	p.V610A	2
TSC1	BLCA	chr9	135797300	135797300	C	G	Missense_Mutation		2
TSC1	BLCA	chr9	135781455	135781455	C	T	Missense_Mutation	p.D504N	2
TSC1	UCEC	chr9	135771908	135771908	G	A	Missense_Mutation	p.A1070V	2
TSC1	COAD	chr9	135786444	135786446	AGG	-	In_Frame_Del	p.362_363del	2
TSC1	STAD	chr9	135804209	135804209	G	-	Frame_Shift_Del	p.M18fs	2
TSC1	UCEC	chr9	135787796	135787796	G	T	Silent	p.I262	2
TSC1	LUAD	chr9	135781222	135781222	G	A	Silent	p.F581F	2
TSC1	CHOL	chr9	135786449	135786449	A	C	Missense_Mutation		2
TSC1	HNSC	chr9	135771804	135771804	C	T	Missense_Mutation	p.D1105N	1
TSC1	LIHC	chr9	135786464	135786464	T	-	Frame_Shift_Del		1
TSC1	LUSC	chr9	135804213	135804213	G	C	Missense_Mutation	p.S16C	1
TSC1	SKCM	chr9	135772900	135772900	C	T	Missense_Mutation	p.R908Q	1
TSC1	BLCA	chr9	135787750	135787751	AC	-	Frame_Shift_Del		1
TSC1	BLCA	chr9	135781127	135781127	G	A	Missense_Mutation	p.P613L	1
TSC1	COAD	chr9	135786904	135786904	A	G	Missense_Mutation	p.M322T	1
TSC1	HNSC	chr9	135786806	135786808	GAG	-	In_Frame_Del		1
TSC1	BLCA	chr9	135776988	135776988	C	G	Missense_Mutation		1
TSC1	LIHC	chr9	135771990	135771990	T	C	Missense_Mutation	p.S1043G	1
TSC1	SARC	chr9	135777028	135777028	G	T	Missense_Mutation		1
TSC1	SKCM	chr9	135776203	135776203	G	A	Nonsense_Mutation	p.Q842*	1
TSC1	SKCM	chr9	135781241	135781241	G	A	Missense_Mutation	p.S574F	1
TSC1	BLCA	chr9	135781405	135781405	G	A	Silent	p.H520H	1
TSC1	THYM	chr9	135801087	135801087	C	T	Missense_Mutation		1
TSC1	LIHC	chr9	135797234	135797234	T	-	Frame_Shift_Del	p.N212fs	1
TSC1	HNSC	chr9	135798766	135798766	G	A	Silent	p.G159G	1
TSC1	LIHC	chr9	135772816	135772816	T	C	Missense_Mutation		1
TSC1	LUSC	chr9	135796754	135796754	G	T	Silent	p.R245R	1
TSC1	SKCM	chr9	135781444	135781444	A	G	Silent	p.F507F	1
TSC1	BLCA	chr9	135776220	135776220	G	C	Nonsense_Mutation	p.S836*	1
TSC1	COAD	chr9	135797261	135797261	A	-	Frame_Shift_Del	p.L203fs	1
TSC1	HNSC	chr9	135771891	135771891	T	C	Missense_Mutation		1
TSC1	BLCA	chr9	135797312	135797323	GCGTACACACTG	-	In_Frame_Del		1
TSC1	BLCA	chr9	135772892	135772892	C	A	Nonsense_Mutation	p.E911*	1
TSC1	LIHC	chr9	135786464	135786464	T	-	Frame_Shift_Del	p.T356fs	1
TSC1	SKCM	chr9	135796754	135796754	G	A	Nonsense_Mutation	p.R245*	1
TSC1	LUAD	chr9	135771795	135771795	C	G	Missense_Mutation	p.G1108R	1
TSC1	BLCA	chr9	135797314	135797314	G	C	Nonsense_Mutation	p.Y185*	1
TSC1	THYM	chr9	135797305	135797305	A	G	Silent	p.F188F	1
TSC1	COAD	chr9	135771689	135771689	G	A	Missense_Mutation	p.P1142L	1
TSC1	ESCA	chr9	135779172	135779172	G	A	Nonsense_Mutation	p.R692X	1
TSC1	LGG	chr9	135776205	135776205	A	G	Missense_Mutation	p.V841A	1
TSC1	LIHC	chr9	135782757	135782757	C	A	Missense_Mutation		1
TSC1	LIHC	chr9	135786437	135786437	C	A	Missense_Mutation		1
TSC1	SKCM	chr9	135779199	135779199	G	A	Missense_Mutation	p.P683S	1
TSC1	BLCA	chr9	135781455	135781455	C	T	Missense_Mutation		1
TSC1	BLCA	chr9	135781102	135781102	G	C	Missense_Mutation	p.I621M	1
TSC1	COAD	chr9	135797300	135797300	C	T	Missense_Mutation	p.R190H	1
TSC1	HNSC	chr9	135771804	135771804	C	T	Missense_Mutation		1
TSC1	BLCA	chr9	135804161	135804161	G	T	Silent		1
TSC1	BLCA	chr9	135787687	135787687	C	T	Missense_Mutation	p.D299N	1
TSC1	KIRC	chr9	135779843	135779843	T	C	Splice_Site	.	1
TSC1	SKCM	chr9	135786955	135786955	C	G	Splice_Site	p.G305_splice	1
TSC1	LUAD	chr9	135785997	135785997	G	T	Missense_Mutation	p.H408Q	1
TSC1	SKCM	chr9	135781200	135781200	G	A	Missense_Mutation	p.P588S	1
TSC1	ACC	chr9	135781060	135781060	T	A	Silent	p.T635T	1
TSC1	THYM	chr9	135779050	135779050	A	G	Silent		1
TSC1	COAD	chr9	135771796	135771796	G	A	Silent	p.D1106D	1
TSC1	LUAD	chr9	135798791	135798791	A	T	Missense_Mutation	p.L151H	1
TSC1	COAD	chr9	135798822	135798822	G	A	Missense_Mutation	p.P141S	1
TSC1	HNSC	chr9	135771891	135771891	T	C	Missense_Mutation	p.T1076A	1
TSC1	HNSC	chr9	135786806	135786808	GAG	-	In_Frame_Del	p.PL354del	1
TSC1	LIHC	chr9	135781136	135781136	A	G	Missense_Mutation		1
TSC1	MESO	chr9	135771639	135771639	G	A	Missense_Mutation		1
TSC1	SKCM	chr9	135798865	135798865	G	A	Silent	p.V126V	1
TSC1	BLCA	chr9	135772671	135772671	C	T	Missense_Mutation		1
TSC1	BLCA	chr9	135798773	135798774	AT	-	Frame_Shift_Del	p.I157fs	1
TSC1	UCS	chr9	135796771	135796771	T	C	Missense_Mutation		1
TSC1	LIHC	chr9	135782757	135782757	C	A	Splice_Site	p.E422_splice	1
TSC1	SARC	chr9	135782743	135782743	A	G	Silent	p.D426D	1
TSC1	SKCM	chr9	135785946	135785957	GCTGGATCGCAC	-	Splice_Site		1
TSC1	LUAD	chr9	135778078	135778078	C	T	Missense_Mutation	p.D769N	1
TSC1	BLCA	chr9	135798773	135798774	AT	-	Frame_Shift_Del		1
TSC1	UCEC	chr9	135780991	135780991	G	A	Silent	p.D658D	1
TSC1	COAD	chr9	135771988	135771993	GCTGCT	-	In_Frame_Del	p.1041_1043del	1
TSC1	ESCA	chr9	135779172	135779172	G	A	Nonsense_Mutation		1
TSC1	LGG	chr9	135776205	135776205	A	G	Missense_Mutation		1
TSC1	COAD	chr9	135801106	135801106	G	A	Silent	p.N77N	1
TSC1	KICH	chr9	135797337	135797349	CGAGATAGACTTC	-	Frame_Shift_Del		1
TSC1	MESO	chr9	135771639	135771639	G	A	Missense_Mutation	p.H1160Y	1
TSC1	SKCM	chr9	135796822	135796822	G	A	Splice_Site	p.P222_splice	1
TSC1	BLCA	chr9	135781127	135781127	G	A	Missense_Mutation		1
TSC1	BLCA	chr9	135782175	135782175	C	T	Missense_Mutation	p.G461R	1
TSC1	BLCA	chr9	135776186	135776186	G	A	Silent		1
TSC1	KIRP	chr9	135804182	135804183	TG	-	Frame_Shift_Del	p.26_27del	1
TSC1	LIHC	chr9	135798814	135798814	A	-	Frame_Shift_Del	p.I143fs	1
TSC1	SARC	chr9	135777028	135777028	G	T	Missense_Mutation	p.A817D	1
TSC1	STAD	chr9	135804196	135804196	G	A	Missense_Mutation		1
TSC1	LUAD	chr9	135776981	135776981	G	T	Missense_Mutation	p.Q833K	1
TSC1	SKCM	chr9	135781419	135781419	G	A	Nonsense_Mutation	p.Q515X	1
TSC1	BLCA	chr9	135781382	135781382	C	T	Missense_Mutation		1
TSC1	UCEC	chr9	135785977	135785977	G	A	Missense_Mutation	p.T415I	1
TSC1	COAD	chr9	135772663	135772663	C	T	Silent	p.E960E	1
TSC1	ESCA	chr9	135786044	135786044	T	A	Missense_Mutation		1
TSC1	LIHC	chr9	135798839	135798839	A	G	Missense_Mutation		1
TSC1	LUAD	chr9	135781380	135781380	C	A	Missense_Mutation	p.A529S	1
TSC1	DLBC	chr9	135771682	135771682	C	T	Silent	p.P1145P	1
TSC1	KICH	chr9	135779084	135779093	CGGAGGAGCC	-	Frame_Shift_Del		1
TSC1	OV	chr9	135778139	135778139	C	T	Silent	p.Q748Q	1
TSC1	SKCM	chr9	135797292	135797292	C	T	Missense_Mutation	p.G193R	1
TSC1	BLCA	chr9	135781102	135781102	G	C	Missense_Mutation		1
TSC1	BLCA	chr9	135798755	135798755	G	T	Nonsense_Mutation	p.S163*	1
TSC1	BLCA	chr9	135782704	135782704	C	T	Silent		1
TSC1	BLCA	chr9	135787750	135787751	AC	-	Frame_Shift_Del	p.S278fs	1
TSC1	STAD	chr9	135786076	135786076	C	T	Missense_Mutation	p.G382D	1
TSC1	LIHC	chr9	135772615	135772615	T	-	Frame_Shift_Del	p.K977fs	1
TSC1	LUAD	chr9	135771987	135771987	C	T	Missense_Mutation	p.E1044K	1
TSC1	LUAD	chr9	135786490	135786490	C	A	Missense_Mutation	p.W347L	1
TSC1	SKCM	chr9	135786955	135786955	C	G	Missense_Mutation	p.G305A	1
TSC1	BLCA	chr9	135781405	135781405	G	A	Silent		1
TSC1	BLCA	chr9	135772832	135772832	C	A	Nonsense_Mutation	p.E931*	1
TSC1	UCEC	chr9	135777991	135777991	C	T	Splice_Site	p.Q797_splice	1
TSC1	COAD	chr9	135772894	135772894	A	-	Frame_Shift_Del	p.L909fs	1
TSC1	GBM	chr9	135804224	135804224	G	T	Silent	p.A12A	1
TSC1	DLBC	chr9	135804239	135804239	G	A	Silent	p.V7V	1
TSC1	KICH	chr9	135779084	135779093	CGGAGGAGCC	-	Frame_Shift_Del	p.667_670del	1
TSC1	OV	chr9	134771199	134771199	G	A	Silent	p.A529	1
TSC1	SKCM	chr9	135781241	135781241	G	A	Missense_Mutation	p.S575F	1
TSC1	BLCA	chr9	135782175	135782175	C	T	Missense_Mutation		1
TSC1	BLCA	chr9	135801022	135801022	A	G	Silent	p.H105H	1
TSC1	SARC	chr9	135772947	135772948	TC	-	Frame_Shift_Del	p.R892fs	1
TSC1	BLCA	chr9	135772845	135772845	C	T	Silent		1
TSC1	BLCA	chr9	135797312	135797323	GCGTACACACTG	-	In_Frame_Del	p.182_186ASVYA>A	1
TSC1	STAD	chr9	135781295	135781295	A	G	Missense_Mutation	p.L557P	1
TSC1	KIRP	chr9	135796822	135796826	GGCTA	-	Splice_Site	p.222_splice	1
TSC1	LIHC	chr9	135781141	135781141	A	-	Frame_Shift_Del	p.F608fs	1
TSC1	LIHC	chr9	135781279	135781279	A	G	Silent		1
TSC1	LUAD	chr9	135786048	135786048	T	A	Silent	p.P391P	1
TSC1	LUAD	chr9	135781380	135781381	CG	AA	Missense_Mutation	p.A529S	1
TSC1	SKCM	chr9	135779089	135779089	G	A	Silent	p.L718L	1
TSC1	BLCA	chr9	135772137	135772137	C	A	Missense_Mutation		1
TSC1	UCEC	chr9	135781297	135781297	G	T	Missense_Mutation	p.D556E	1
TSC1	COAD	chr9	135780989	135780989	G	A	Missense_Mutation	p.A658V	1
TSC1	GBM	chr9	135804224	135804224	G	T	Silent		1
TSC1	KICH	chr9	135797337	135797349	CGAGATAGACTTC	-	Frame_Shift_Del	p.E174fs	1
TSC1	LIHC	chr9	135779815	135779815	T	C	Missense_Mutation	p.D675G	1
TSC1	OV	chr9	134769650	134769650	G	T	Silent	p.P670	1
TSC1	SKCM	chr9	135779089	135779089	G	A	Silent	p.L719L	1
TSC1	BLCA	chr9	135797295	135797295	A	G	Missense_Mutation	p.Y192H	1
TSC1	SARC	chr9	135782743	135782743	A	G	Silent	p.D426	1
TSC1	BLCA	chr9	135797314	135797314	G	-	Frame_Shift_Del		1
TSC1	BLCA	chr9	135797300	135797300	C	-	Frame_Shift_Del	p.R190fs	1
TSC1	STAD	chr9	135786444	135786446	AGG	-	In_Frame_Del	p.362_363PG>R	1
TSC1	CESC	chr9	135801121	135801121	G	C	Silent	p.L72	1
TSC1	KIRP	chr9	135796822	135796826	GGCTA	-	Splice_Site	p.P222_splice	1
TSC1	LIHC	chr9	135804235	135804235	C	-	Frame_Shift_Del	p.E9fs	1
TSC1	LUAD	chr9	135800990	135800990	A	G	Missense_Mutation	p.L116S	1
TSC1	LUSC	chr9	135772642	135772642	C	A	Missense_Mutation	p.R968S	1
TSC1	COAD	chr9	135782221	135782221	T	C	Silent	p.E444E	1
TSC1	GBM	chr9	135779084	135779084	C	T	Missense_Mutation		1
TSC1	ESCA	chr9	135772902	135772902	T	-	Frame_Shift_Del	p.K907fs	1
TSC1	KICH	chr9	135779084	135779093	CGGAGGAGCC	-	Frame_Shift_Del	p.R718fs	1
TSC1	LIHC	chr9	135782757	135782757	C	A	Nonsense_Mutation	p.E422X	1
TSC1	PAAD	chr9	135796804	135796804	C	A	Missense_Mutation		1
TSC1	SKCM	chr9	135779817	135779817	G	A	Silent	p.V674V	1
TSC1	BLCA	chr9	135776988	135776988	C	G	Missense_Mutation	p.Q830H	1
TSC1	SKCM	chr9	135771901	135771901	G	C	Silent	p.A1071A	1
TSC1	BLCA	chr9	135787687	135787687	C	T	Missense_Mutation		1
TSC1	BLCA	chr9	135797314	135797314	G	-	Frame_Shift_Del	p.Y185fs	1
TSC1	THYM	chr9	135781407	135781407	G	T	Missense_Mutation		1
TSC1	CESC	chr9	135781123	135781123	C	A	Missense_Mutation	p.K614N	1
TSC1	ESCA	chr9	135796783	135796783	G	T	Missense_Mutation		1
TSC1	KIRP	chr9	135781374	135781374	C	T	Missense_Mutation		1
TSC1	LIHC	chr9	135804243	135804243	T	-	Frame_Shift_Del	p.N6fs	1
TSC1	LUSC	chr9	135772037	135772037	C	T	Missense_Mutation	p.R1027Q	1
TSC1	BLCA	chr9	135802666	135802666	G	-	Frame_Shift_Del		1
TSC1	COAD	chr9	135785964	135785964	G	-	Frame_Shift_Del	p.R419fs	1
TSC1	HNSC	chr9	135786470	135786470	C	A	Missense_Mutation		1
TSC1	KIRC	chr9	135798844	135798844	G	A	Silent	p.V133V	1
TSC1	PRAD	chr9	135771698	135771698	G	A	Missense_Mutation	p.P1140L	1
TSC1	SKCM	chr9	135781200	135781200	G	A	Missense_Mutation	p.P589S	1
TSC1	BLCA	chr9	135801022	135801022	A	G	Silent		1
TSC1	BLCA	chr9	135804161	135804161	G	T	Silent	p.L33L	1
TSC1	LUAD	chr9	135781324	135781324	T	C	Silent	p.T547T	1
TSC1	SKCM	chr9	135772969	135772969	C	A	Missense_Mutation	p.R884L	1
TSC1	BLCA	chr9	135781382	135781382	C	T	Missense_Mutation	p.G528D	1
TSC1	BLCA	chr9	135778175	135778175	C	G	Splice_Site	p.K737_splice	1
TSC1	THYM	chr9	135787841	135787841	C	A	Missense_Mutation		1
TSC1	CESC	chr9	135797308	135797308	G	C	Silent	p.L187	1
TSC1	ESCA	chr9	135772673	135772673	A	G	Missense_Mutation		1
TSC1	KIRP	chr9	135781408	135781408	G	T	Silent		1
TSC1	LIHC	chr9	135786464	135786464	T	-	Frame_Shift_Del	p.T357fs	1
TSC1	LIHC	chr9	135798881	135798881	T	C	Splice_Site		1
TSC1	LUSC	chr9	135778003	135778003	G	A	Nonsense_Mutation	p.Q794*	1
TSC1	SKCM	chr9	135771901	135771901	G	C	Silent	p.A1072A	1
TSC1	HNSC	chr9	135781032	135781032	G	A	Missense_Mutation		1
TSC1	KIRC	chr9	135781381	135781382	-	C	Frame_Shift_Ins	p.G528fs	1
TSC1	LIHC	chr9	135798881	135798881	T	C	Splice_Site	.	1
TSC1	READ	chr9	135798742	135798742	C	A	Missense_Mutation	p.K167N	1
TSC1	SKCM	chr9	135776204	135776204	G	A	Silent	p.V841V	1
TSC1	BLCA	chr9	135797295	135797295	A	G	Missense_Mutation		1
TSC1	BLCA	chr9	135772845	135772845	C	T	Silent	p.Q926Q	1
TSC1	SKCM	chr9	135781444	135781444	A	G	Silent	p.F506F	1
TSC1	BLCA	chr9	135781386	135781386	G	A	Nonsense_Mutation	p.Q527*	1
TSC1	BLCA	chr9	135777087	135777087	C	A	Splice_Site	p.T798_splice	1
TSC1	THYM	chr9	135797305	135797305	A	G	Silent		1
TSC1	ESCA	chr9	135787773	135787773	G	A	Missense_Mutation		1
TSC1	KIRP	chr9	135781514	135781514	C	A	Missense_Mutation		1

Copy number variation (CNV) of TSC1
* Click on the image to open the original image in a new window.

Fusion gene breakpoints (product of the structural variants (SVs)) across TSC1
* 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
36710	BRCA	TCGA-AC-A2BM-01A	EHMT1	chr9	140712590	+	TSC1	chr9	135804339	-
36710	N/A	BF738281	HLA-F-AS1	chr6	29716029	-	TSC1	chr9	135804247	+
94476	KIRC	TCGA-BP-5183-01A	TSC1	chr9	135819930	-	AK8	chr9	135602921	-
94476	SKCM	TCGA-DA-A1I2	TSC1	chr9	135819929	-	AK8	chr9	135602921	-
94476	SKCM	TCGA-DA-A1I2	TSC1	chr9	135819929	-	AK8	chr9	135668162	-
94476	SKCM	TCGA-DA-A1I2-06A	TSC1	chr9	135819930	-	AK8	chr9	135668162	-
94476	SKCM	TCGA-DA-A1I2-06A	TSC1	chr9	135819934	-	AK8	chr9	135668162	-
94476	SKCM	TCGA-DA-A1I2-06A	TSC1	chr9	135819959	-	AK8	chr9	135602921	-
94476	SKCM	TCGA-DA-A1I2-06A	TSC1	chr9	135819959	-	AK8	chr9	135668162	-
94476	PRAD	TCGA-EJ-5503-01A	TSC1	chr9	135796750	-	CEL	chr9	135945848	+
94476	HNSC	TCGA-CR-6487	TSC1	chr9	135796749	-	DOLPP1	chr9	131848987	+
94476	HNSC	TCGA-CR-6487-01A	TSC1	chr9	135796750	-	DOLPP1	chr9	131848988	+
94476	N/A	KM516092	TSC1	chr9	135776976	-	PDGFRB	chr5	149505142	-
94476	LIHC	TCGA-GJ-A9DB-01A	TSC1	chr9	135796750	-	SARDH	chr9	136578246	-

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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
HNSC	TSC1	0.00333142013212035	0.093
SKCM	TSC1	0.00755370878146128	0.2
KIRC	TSC1	0.0348696560914367	0.91
TGCT	TSC1	0.0392398512040779	0.98

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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
LIHC	TSC1	0.0399982926993721	1
KIRC	TSC1	0.00827483584753031	0.26
KICH	TSC1	0.0123621880999546	0.38
LGG	TSC1	0.0151514601095688	0.45
BLCA	TSC1	0.0328428725543471	0.95
SARC	TSC1	0.00155752352715976	0.051

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Related Drugs

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

UniProtAcc

DrugBank ID

Drug name

Drug activity

Drug type

Drug status

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Related Diseases

Diseases associated with this translation factor.
(DisGeNet 4.0)

Disease ID	Disease Name	# PubMeds	Disease source
C1854465	TUBEROUS SCLEROSIS 1 (disorder)	19	CLINGEN;CTD_human;GENOMICS_ENGLAND;UNIPROT
C0041341	Tuberous Sclerosis	11	CLINGEN;CTD_human;GENOMICS_ENGLAND
C0265319	Fibrous skin tumor of tuberous sclerosis	3	CTD_human
C0751674	Lymphangioleiomyomatosis	3	CTD_human;GENOMICS_ENGLAND;ORPHANET
C0014544	Epilepsy	2	CTD_human
C0086237	Epilepsy, Cryptogenic	2	CTD_human
C0751111	Awakening Epilepsy	2	CTD_human
C1846385	FOCAL CORTICAL DYSPLASIA OF TAYLOR	2	CTD_human;GENOMICS_ENGLAND;UNIPROT
C1846386	Focal Cortical Dysplasia of Taylor, Type IIa	2	CTD_human
C1846389	Focal Cortical Dysplasia of Taylor, Type IIb	2	CTD_human
C0004352	Autistic Disorder	1	CTD_human
C0007134	Renal Cell Carcinoma	1	CTD_human
C0007137	Squamous cell carcinoma	1	CTD_human
C0022333	Jacksonian Seizure	1	CTD_human
C0037769	West Syndrome	1	CTD_human
C0149958	Complex partial seizures	1	CTD_human
C0234533	Generalized seizures	1	CTD_human
C0234535	Clonic Seizures	1	CTD_human
C0270824	Visual seizure	1	CTD_human
C0270846	Epileptic drop attack	1	CTD_human
C0279607	Adult Hepatocellular Carcinoma	1	ORPHANET
C0279702	Conventional (Clear Cell) Renal Cell Carcinoma	1	CGI;CTD_human
C0393698	Cryptogenic Infantile Spasms	1	CTD_human
C0393699	Symptomatic Infantile Spasms	1	CTD_human
C0494475	Tonic - clonic seizures	1	CTD_human
C0546878	Nodding spasm	1	CTD_human
C0553558	Jackknife Seizures	1	CTD_human
C0751110	Single Seizure	1	CTD_human
C0751776	Atypical Inclusion-Body Disease	1	CTD_human
C0751777	Familial Progressive Myoclonic Epilepsy	1	CTD_human
C0751778	Myoclonic Epilepsies, Progressive	1	CTD_human
C0751779	Action Myoclonus-Renal Failure Syndrome	1	CTD_human
C0751780	Biotin-Responsive Encephalopathy	1	CTD_human
C0751781	Dentatorubral-Pallidoluysian Atrophy	1	CTD_human
C0751782	May-White Syndrome	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
C1527306	spasmus nutans	1	CTD_human
C1527366	Salaam Seizures	1	CTD_human
C2239176	Liver carcinoma	1	CTD_human