samp_C

	A	B	C	D	E	F	G	H	I	J	K	L	M	N	O	P	Q	R	S	T	U	V	W	X	Y	Z	AA	AB	AC	AD	AE	AF	AG	AH	AI	AJ	AK	AL	AM	AN	AO	AP	AQ	AR	AS	AT	AU	AV	AW	AX	AY	AZ	BA	BB	BC	BD	BE	BF	BG	BH	BI	BJ	BK	BL	BM	BN	BO	BP	BQ	BR	BS	BT	BU	BV	BW	BX	BY	BZ	CA	CB	CC	CD	CE	CF	CG	CH	CI	CJ	CK	CL	CM	CN	CO	CP	CQ	CR	CS	CT	CU	CV
1	Chr	Start	End	Ref	Alt	Func.refGene	Gene.refGene	GeneDetail.refGene	ExonicFunc.refGene	AAChange.refGene	genomicSuperDups	avsnp150	gnomAD_exome_ALL	gnomAD_exome_AFR	gnomAD_exome_AMR	gnomAD_exome_ASJ	gnomAD_exome_EAS	gnomAD_exome_FIN	gnomAD_exome_NFE	gnomAD_exome_OTH	gnomAD_exome_SAS	gnomAD_genome_ALL	gnomAD_genome_AFR	gnomAD_genome_AMR	gnomAD_genome_ASJ	gnomAD_genome_EAS	gnomAD_genome_FIN	gnomAD_genome_NFE	gnomAD_genome_OTH	ExAC_nontcga_ALL	ExAC_nontcga_AFR	ExAC_nontcga_AMR	ExAC_nontcga_EAS	ExAC_nontcga_FIN	ExAC_nontcga_NFE	ExAC_nontcga_OTH	ExAC_nontcga_SAS	CLINSIG	CLNDBN	CLNACC	CLNDSDB	CLNDSDBID	1000g2015aug_all	1000g2015aug_afr	1000g2015aug_eas	1000g2015aug_eur	SIFT_score	SIFT_converted_rankscore	SIFT_pred	Polyphen2_HDIV_score	Polyphen2_HDIV_rankscore	Polyphen2_HDIV_pred	Polyphen2_HVAR_score	Polyphen2_HVAR_rankscore	Polyphen2_HVAR_pred	LRT_score	LRT_converted_rankscore	LRT_pred	MutationTaster_score	MutationTaster_converted_rankscore	MutationTaster_pred	MutationAssessor_score	MutationAssessor_score_rankscore	MutationAssessor_pred	FATHMM_score	FATHMM_converted_rankscore	FATHMM_pred	PROVEAN_score	PROVEAN_converted_rankscore	PROVEAN_pred	VEST3_score	VEST3_rankscore	MetaSVM_score	MetaSVM_rankscore	MetaSVM_pred	MetaLR_score	MetaLR_rankscore	MetaLR_pred	M-CAP_score	M-CAP_rankscore	M-CAP_pred	CADD_raw	CADD_raw_rankscore	CADD_phred	DANN_score	DANN_rankscore	fathmm-MKL_coding_score	fathmm-MKL_coding_rankscore	fathmm-MKL_coding_pred	Eigen_coding_or_noncoding	Eigen-raw	Eigen-PC-raw	GenoCanyon_score	GenoCanyon_score_rankscore	integrated_fitCons_score	integrated_fitCons_score_rankscore	integrated_confidence_value	GERP++_RS	GERP++_RS_rankscore	phyloP100way_vertebrate
2	chr16	2110571	2110571	C	G	intronic	TSC2	.	.	.	.	rs2074968	.	.	.	.	.	.	.	.	.	0.5488	0.4423	0.4928	0.6267	0.7348	0.56	0.5876	0.5787	.	.	.	.	.	.	.	.	.	.	.	.	.	0.557508	0.3979	0.7143	0.5467	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
3	chr16	2125769	2125769	G	A	intronic	TSC2	.	.	.	.	rs145738496	0.0106	0.0023	0.0039	0.016	0.0001	0.0224	0.015	0.0129	0.0018	0.0117	0.002	0.0131	0.0199	0	0.0201	0.0161	0.0153	0.011	0.0023	0.0022	0	0.0224	0.0175	0.0074	0.0015	not provided\|Benign	Tuberous_sclerosis_syndrome\|not_specified	RCV000055372.1\|RCV000245267.1	MedGen:Orphanet:SNOMED_CT\|MedGen	C0041341:ORPHA805:7199000\|CN169374	0.0061901	0.0015	.	0.0229	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
4	chr16	2138084	2138084	A	C	exonic	TSC2	.	nonsynonymous SNV	TSC2:NM_001318831:exon36:c.A4372C:p.I1458L,TSC2:NM_001318827:exon37:c.A4795C:p.I1599L,TSC2:NM_001318829:exon37:c.A4759C:p.I1587L,TSC2:NM_001077183:exon38:c.A4903C:p.I1635L,TSC2:NM_001318832:exon38:c.A4936C:p.I1646L,TSC2:NM_001114382:exon39:c.A5035C:p.I1679L,TSC2:NM_000548:exon40:c.A5104C:p.I1702L	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.006	0.614	D	0.036	0.239	B	0.063	0.282	B	0	0.629	D	1	0.81	D	0.78	0.195	N	-3.38	0.942	D	-1.61	0.399	N	0.737	0.734	0.349	0.883	D	0.714	0.902	D	0.135	0.818	D	3.352	0.461	22.9	0.973	0.329	0.97	0.721	D	c	0.029	0.175	1	0.747	0.672	0.522	0	4.65	0.575	7.212
5	chr16	2138087	2138087	G	-	exonic	TSC2	.	frameshift deletion	TSC2:NM_001318831:exon36:c.4375delG:p.V1459fs,TSC2:NM_001318827:exon37:c.4798delG:p.V1600fs,TSC2:NM_001318829:exon37:c.4762delG:p.V1588fs,TSC2:NM_001077183:exon38:c.4906delG:p.V1636fs,TSC2:NM_001318832:exon38:c.4939delG:p.V1647fs,TSC2:NM_001114382:exon39:c.5038delG:p.V1680fs,TSC2:NM_000548:exon40:c.5107delG:p.V1703fs	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
6	chr16	2138086	2138086	C	G	exonic	TSC2	.	nonsynonymous SNV	TSC2:NM_001318831:exon36:c.C4374G:p.I1458M,TSC2:NM_001318827:exon37:c.C4797G:p.I1599M,TSC2:NM_001318829:exon37:c.C4761G:p.I1587M,TSC2:NM_001077183:exon38:c.C4905G:p.I1635M,TSC2:NM_001318832:exon38:c.C4938G:p.I1646M,TSC2:NM_001114382:exon39:c.C5037G:p.I1679M,TSC2:NM_000548:exon40:c.C5106G:p.I1702M	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.001	0.784	D	0.785	0.492	P	0.841	0.594	P	0	0.629	D	0.996	0.43	D	1.215	0.307	L	-3.49	0.946	D	-2.41	0.545	N	0.822	0.81	0.568	0.915	D	0.817	0.938	D	0.416	0.937	D	3.305	0.456	22.9	0.991	0.522	0.182	0.2	N	c	-0.663	-0.826	1	0.747	0.672	0.522	0	-5.78	0.022	-1.98
7	chr16	2138294	2138311	CGGCTCCGCCACATCAAG	-	exonic	TSC2	.	nonframeshift deletion	TSC2:NM_001318831:exon37:c.4495_4512del:p.1499_1504del,TSC2:NM_001318827:exon38:c.4918_4935del:p.1640_1645del,TSC2:NM_001318829:exon38:c.4882_4899del:p.1628_1633del,TSC2:NM_001077183:exon39:c.5026_5043del:p.1676_1681del,TSC2:NM_001318832:exon39:c.5059_5076del:p.1687_1692del,TSC2:NM_001114382:exon40:c.5158_5175del:p.1720_1725del,TSC2:NM_000548:exon41:c.5227_5244del:p.1743_1748del	.	rs137854218	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	Pathogenic\|not provided\|not provided\|not provided\|Pathogenic\|Pathogenic	Tuberous_sclerosis_2\|Tuberous_sclerosis_syndrome\|Lymphangiomyomatosis\|Tuberous_sclerosis_syndrome\|not_provided\|Hereditary_cancer-predisposing_syndrome	RCV000013211.25\|RCV000043162.3\|RCV000055053.1\|RCV000055053.1\|RCV000483802.1\|RCV000491359.1	MedGen:OMIM\|MedGen:Orphanet:SNOMED_CT\|MedGen:OMIM:Orphanet:SNOMED_CT\|MedGen:Orphanet:SNOMED_CT\|MedGen\|MedGen:SNOMED_CT	C1860707:613254\|C0041341:ORPHA805:7199000\|C0751674:606690:ORPHA538:73017001\|C0041341:ORPHA805:7199000\|CN221809\|C0027672:699346009	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.
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