Joint Open Genome and Omics Platform (JoGo)

Search by Gene

geneid	54903
ensemblid	ENSG00000011143.19
hgncid	7121
symbol	MKS1
name	MKS transition zone complex subunit 1
refseq_nuc	NM_017777.4
refseq_prot	NP_060247.2
ensembl_nuc	ENST00000393119.7
ensembl_prot	ENSP00000376827.2
mane_status	MANE Select
chr	chr17
start	58205441
end	58219255
strand	-
ver	v1.2
region	chr17:58205441-58219255
region5000	chr17:58200441-58224255
regionname0	MKS1_chr17_58205441_58219255
regionname5000	MKS1_chr17_58200441_58224255

ahapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	alen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	aa
a0001	1/1	559	317	85	44	141	13	32	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0002	0/0	559	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0003	0/0	559	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0004	0/0	559	2	0	0	2	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0005	0/0	559	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0006	0/0	559	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0007	0/0	559	1	0	0	0	1	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta

chapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	clen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	cseq
c0001	1/1	1680	286	66	40	134	13	31	MKS1_chr17_58200441_58224255	MKS1	copy fasta
c0002	0/0	1680	28	18	4	5	0	1	MKS1_chr17_58200441_58224255	MKS1	copy fasta
c0003	0/0	1680	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
c0004	0/0	1680	2	0	0	2	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
c0005	0/0	1680	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
c0006	0/0	1680	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
c0007	0/0	1680	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
c0008	0/0	1680	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
c0009	0/0	1680	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
c0010	0/0	1680	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
c0011	0/0	1680	1	0	0	0	1	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta

thapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	tlen	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	tseq
t0001	1/0	664	271	77	37	119	9	28	MKS1_chr17_58200441_58224255	MKS1	copy fasta
t0002	0/1	664	36	1	6	21	3	4	MKS1_chr17_58200441_58224255	MKS1	copy fasta
t0003	0/0	664	7	7	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
t0004	0/0	664	5	3	1	0	1	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
t0005	0/0	664	4	0	0	4	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
t0006	0/0	664	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
t0007	0/0	664	1	0	0	0	1	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta

ghapid	grch38/ chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	total	AFR	AMR	EAS	EUR	SAS	regionname	genename
g0001	0/0	42	3	6	28	2	3	MKS1_chr17_58200441_58224255	MKS1
g0002	0/0	27	4	0	22	1	0	MKS1_chr17_58200441_58224255	MKS1
g0003	0/0	26	3	2	16	0	5	MKS1_chr17_58200441_58224255	MKS1
g0004	0/0	21	2	8	9	1	1	MKS1_chr17_58200441_58224255	MKS1
g0005	0/0	13	5	4	0	1	3	MKS1_chr17_58200441_58224255	MKS1
g0006	0/0	7	1	1	5	0	0	MKS1_chr17_58200441_58224255	MKS1
g0007	0/0	7	0	1	4	0	2	MKS1_chr17_58200441_58224255	MKS1
g0008	0/0	6	5	1	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0009	0/0	6	6	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0010	0/0	5	4	1	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0011	0/0	4	0	0	4	0	0	MKS1_chr17_58200441_58224255	MKS1
g0012	0/0	4	1	2	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0013	0/0	4	0	0	3	1	0	MKS1_chr17_58200441_58224255	MKS1
g0014	0/0	4	4	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0015	0/0	4	3	1	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0016	0/0	4	4	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0017	0/0	4	0	1	3	0	0	MKS1_chr17_58200441_58224255	MKS1
g0018	0/0	3	0	3	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0019	0/0	3	0	3	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0020	0/0	3	0	0	0	0	3	MKS1_chr17_58200441_58224255	MKS1
g0021	0/0	3	0	0	1	1	1	MKS1_chr17_58200441_58224255	MKS1
g0022	0/0	3	0	0	3	0	0	MKS1_chr17_58200441_58224255	MKS1
g0023	0/0	3	3	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0024	0/0	3	1	1	0	1	0	MKS1_chr17_58200441_58224255	MKS1
g0025	0/0	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0026	0/0	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0027	0/0	2	0	0	2	0	0	MKS1_chr17_58200441_58224255	MKS1
g0028	0/0	2	0	1	0	0	1	MKS1_chr17_58200441_58224255	MKS1
g0029	0/0	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0030	0/0	2	0	0	1	0	1	MKS1_chr17_58200441_58224255	MKS1
g0031	0/0	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0032	0/0	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0033	0/0	2	0	0	0	0	2	MKS1_chr17_58200441_58224255	MKS1
g0034	0/0	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0035	0/0	2	0	0	2	0	0	MKS1_chr17_58200441_58224255	MKS1
g0036	0/0	2	0	2	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0037	0/0	2	0	1	0	0	1	MKS1_chr17_58200441_58224255	MKS1
g0038	0/0	2	1	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0039	0/0	2	0	0	2	0	0	MKS1_chr17_58200441_58224255	MKS1
g0040	0/0	2	0	0	0	0	2	MKS1_chr17_58200441_58224255	MKS1
g0041	0/0	2	0	0	2	0	0	MKS1_chr17_58200441_58224255	MKS1
g0042	0/0	2	0	0	2	0	0	MKS1_chr17_58200441_58224255	MKS1
g0043	0/0	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0044	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0045	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0046	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0047	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0048	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0049	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0050	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0051	0/0	1	0	0	0	0	1	MKS1_chr17_58200441_58224255	MKS1
g0052	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0053	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0054	0/0	1	0	0	0	1	0	MKS1_chr17_58200441_58224255	MKS1
g0055	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0056	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0057	0/0	1	0	0	0	1	0	MKS1_chr17_58200441_58224255	MKS1
g0058	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0059	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0060	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0061	0/1	1	0	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0062	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0063	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0064	0/0	1	0	1	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0065	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0066	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0067	0/0	1	0	0	0	1	0	MKS1_chr17_58200441_58224255	MKS1
g0068	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0069	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0070	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0071	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0072	0/0	1	0	1	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0073	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0074	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0075	0/0	1	0	1	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0076	0/0	1	0	0	0	0	1	MKS1_chr17_58200441_58224255	MKS1
g0077	0/0	1	0	1	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0078	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0079	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0080	0/0	1	0	0	0	1	0	MKS1_chr17_58200441_58224255	MKS1
g0081	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0082	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0083	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0084	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0085	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0086	0/0	1	0	0	0	0	1	MKS1_chr17_58200441_58224255	MKS1
g0087	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0088	0/0	1	0	1	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0089	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0090	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0091	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0092	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0093	0/0	1	0	0	0	0	1	MKS1_chr17_58200441_58224255	MKS1
g0094	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0095	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0096	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0097	0/0	1	0	0	0	1	0	MKS1_chr17_58200441_58224255	MKS1
g0098	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0099	0/0	1	0	0	0	0	1	MKS1_chr17_58200441_58224255	MKS1
g0100	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0101	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0102	1/0	1	0	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0103	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0104	0/0	1	0	0	0	0	1	MKS1_chr17_58200441_58224255	MKS1
g0105	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0106	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0107	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0108	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0109	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0110	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0111	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0112	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0113	0/0	1	0	0	0	0	1	MKS1_chr17_58200441_58224255	MKS1
g0114	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0115	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0116	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
g0117	0/0	1	0	0	0	1	0	MKS1_chr17_58200441_58224255	MKS1
g0118	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0119	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0120	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0121	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
g0122	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1

achapid	ahapid	chapid	grch38/chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	acseq
a0001c0001	a0001	c0001	1/1	286	66	40	134	13	31	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0001c0002	a0001	c0002	0/0	28	18	4	5	0	1	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0001c0006	a0001	c0006	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0001c0008	a0001	c0008	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0001c0010	a0001	c0010	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0002c0005	a0002	c0005	0/0	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0003c0003	a0003	c0003	0/0	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0004c0004	a0004	c0004	0/0	2	0	0	2	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0005c0007	a0005	c0007	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0006c0009	a0006	c0009	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0007c0011	a0007	c0011	0/0	1	0	0	0	1	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta

acthapid	ahapid	chapid	thapid	grch38/chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	total	AFR	AMR	EAS	EUR	SAS	regionname	genename	actseq
a0001c0001t0001	a0001	c0001	t0001	1/0	235	54	33	111	9	27	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0001c0001t0002	a0001	c0001	t0002	0/1	33	1	6	19	2	4	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0001c0001t0003	a0001	c0001	t0003	0/0	7	7	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0001c0001t0004	a0001	c0001	t0004	0/0	4	2	1	0	1	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0001c0001t0005	a0001	c0001	t0005	0/0	4	0	0	4	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0001c0001t0006	a0001	c0001	t0006	0/0	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0001c0001t0007	a0001	c0001	t0007	0/0	1	0	0	0	1	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0001c0002t0001	a0001	c0002	t0001	0/0	28	18	4	5	0	1	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0001c0006t0002	a0001	c0006	t0002	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0001c0008t0002	a0001	c0008	t0002	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0001c0010t0001	a0001	c0010	t0001	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0002c0005t0001	a0002	c0005	t0001	0/0	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0003c0003t0001	a0003	c0003	t0001	0/0	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0004c0004t0001	a0004	c0004	t0001	0/0	2	0	0	2	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0005c0007t0001	a0005	c0007	t0001	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0006c0009t0004	a0006	c0009	t0004	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta
a0007c0011t0002	a0007	c0011	t0002	0/0	1	0	0	0	1	0	MKS1_chr17_58200441_58224255	MKS1	copy fasta

actghapid	ahapid	chapid	thapid	ghapid	grch38/chm13v2 1/0: The haplotype type is the same as GRCh38 0/1: The haplotype type is the same as CHM13v2 0/0: The haplotype type matches neither GRCh38 nor CHM13v2 1/1: The haplotype type is the same on both GRCh38 and CHM13v2	total	AFR	AMR	EAS	EUR	SAS	regionname	genename
a0001c0001t0001g0001	a0001	c0001	t0001	g0001	0/0	42	3	6	28	2	3	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0002	a0001	c0001	t0001	g0002	0/0	27	4	0	22	1	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0003	a0001	c0001	t0001	g0003	0/0	26	3	2	16	0	5	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0004	a0001	c0001	t0001	g0004	0/0	21	2	8	9	1	1	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0005	a0001	c0001	t0001	g0005	0/0	13	5	4	0	1	3	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0014	a0001	c0001	t0001	g0014	0/0	4	4	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0015	a0001	c0001	t0001	g0015	0/0	4	3	1	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0016	a0001	c0001	t0001	g0016	0/0	4	4	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0017	a0001	c0001	t0001	g0017	0/0	4	0	1	3	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0019	a0001	c0001	t0001	g0019	0/0	3	0	3	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0020	a0001	c0001	t0001	g0020	0/0	3	0	0	0	0	3	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0021	a0001	c0001	t0001	g0021	0/0	3	0	0	1	1	1	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0023	a0001	c0001	t0001	g0023	0/0	3	3	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0029	a0001	c0001	t0001	g0029	0/0	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0031	a0001	c0001	t0001	g0031	0/0	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0032	a0001	c0001	t0001	g0032	0/0	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0033	a0001	c0001	t0001	g0033	0/0	2	0	0	0	0	2	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0034	a0001	c0001	t0001	g0034	0/0	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0035	a0001	c0001	t0001	g0035	0/0	2	0	0	2	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0036	a0001	c0001	t0001	g0036	0/0	2	0	2	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0037	a0001	c0001	t0001	g0037	0/0	2	0	1	0	0	1	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0038	a0001	c0001	t0001	g0038	0/0	2	1	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0039	a0001	c0001	t0001	g0039	0/0	2	0	0	2	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0040	a0001	c0001	t0001	g0040	0/0	2	0	0	0	0	2	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0041	a0001	c0001	t0001	g0041	0/0	2	0	0	2	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0042	a0001	c0001	t0001	g0042	0/0	2	0	0	2	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0045	a0001	c0001	t0001	g0045	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0062	a0001	c0001	t0001	g0062	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0064	a0001	c0001	t0001	g0064	0/0	1	0	1	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0066	a0001	c0001	t0001	g0066	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0067	a0001	c0001	t0001	g0067	0/0	1	0	0	0	1	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0068	a0001	c0001	t0001	g0068	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0069	a0001	c0001	t0001	g0069	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0070	a0001	c0001	t0001	g0070	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0072	a0001	c0001	t0001	g0072	0/0	1	0	1	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0074	a0001	c0001	t0001	g0074	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0075	a0001	c0001	t0001	g0075	0/0	1	0	1	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0076	a0001	c0001	t0001	g0076	0/0	1	0	0	0	0	1	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0077	a0001	c0001	t0001	g0077	0/0	1	0	1	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0078	a0001	c0001	t0001	g0078	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0079	a0001	c0001	t0001	g0079	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0080	a0001	c0001	t0001	g0080	0/0	1	0	0	0	1	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0081	a0001	c0001	t0001	g0081	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0082	a0001	c0001	t0001	g0082	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0083	a0001	c0001	t0001	g0083	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0084	a0001	c0001	t0001	g0084	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0085	a0001	c0001	t0001	g0085	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0086	a0001	c0001	t0001	g0086	0/0	1	0	0	0	0	1	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0087	a0001	c0001	t0001	g0087	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0088	a0001	c0001	t0001	g0088	0/0	1	0	1	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0089	a0001	c0001	t0001	g0089	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0090	a0001	c0001	t0001	g0090	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0091	a0001	c0001	t0001	g0091	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0092	a0001	c0001	t0001	g0092	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0093	a0001	c0001	t0001	g0093	0/0	1	0	0	0	0	1	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0094	a0001	c0001	t0001	g0094	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0098	a0001	c0001	t0001	g0098	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0099	a0001	c0001	t0001	g0099	0/0	1	0	0	0	0	1	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0100	a0001	c0001	t0001	g0100	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0101	a0001	c0001	t0001	g0101	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0102	a0001	c0001	t0001	g0102	1/0	1	0	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0104	a0001	c0001	t0001	g0104	0/0	1	0	0	0	0	1	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0105	a0001	c0001	t0001	g0105	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0106	a0001	c0001	t0001	g0106	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0107	a0001	c0001	t0001	g0107	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0108	a0001	c0001	t0001	g0108	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0109	a0001	c0001	t0001	g0109	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0110	a0001	c0001	t0001	g0110	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0112	a0001	c0001	t0001	g0112	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0113	a0001	c0001	t0001	g0113	0/0	1	0	0	0	0	1	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0114	a0001	c0001	t0001	g0114	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0115	a0001	c0001	t0001	g0115	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0116	a0001	c0001	t0001	g0116	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0117	a0001	c0001	t0001	g0117	0/0	1	0	0	0	1	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0118	a0001	c0001	t0001	g0118	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0119	a0001	c0001	t0001	g0119	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0120	a0001	c0001	t0001	g0120	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0001g0121	a0001	c0001	t0001	g0121	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0002g0006	a0001	c0001	t0002	g0006	0/0	7	1	1	5	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0002g0007	a0001	c0001	t0002	g0007	0/0	7	0	1	4	0	2	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0002g0013	a0001	c0001	t0002	g0013	0/0	4	0	0	3	1	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0002g0018	a0001	c0001	t0002	g0018	0/0	3	0	3	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0002g0027	a0001	c0001	t0002	g0027	0/0	2	0	0	2	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0002g0028	a0001	c0001	t0002	g0028	0/0	2	0	1	0	0	1	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0002g0030	a0001	c0001	t0002	g0030	0/0	2	0	0	1	0	1	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0002g0053	a0001	c0001	t0002	g0053	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0002g0054	a0001	c0001	t0002	g0054	0/0	1	0	0	0	1	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0002g0055	a0001	c0001	t0002	g0055	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0002g0056	a0001	c0001	t0002	g0056	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0002g0059	a0001	c0001	t0002	g0059	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0002g0061	a0001	c0001	t0002	g0061	0/1	1	0	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0003g0009	a0001	c0001	t0003	g0009	0/0	6	6	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0003g0122	a0001	c0001	t0003	g0122	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0004g0024	a0001	c0001	t0004	g0024	0/0	3	1	1	0	1	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0004g0096	a0001	c0001	t0004	g0096	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0005g0022	a0001	c0001	t0005	g0022	0/0	3	0	0	3	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0005g0103	a0001	c0001	t0005	g0103	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0006g0043	a0001	c0001	t0006	g0043	0/0	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0001t0007g0097	a0001	c0001	t0007	g0097	0/0	1	0	0	0	1	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0002t0001g0008	a0001	c0002	t0001	g0008	0/0	6	5	1	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0002t0001g0010	a0001	c0002	t0001	g0010	0/0	5	4	1	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0002t0001g0011	a0001	c0002	t0001	g0011	0/0	4	0	0	4	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0002t0001g0012	a0001	c0002	t0001	g0012	0/0	4	1	2	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0002t0001g0026	a0001	c0002	t0001	g0026	0/0	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0002t0001g0046	a0001	c0002	t0001	g0046	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0002t0001g0047	a0001	c0002	t0001	g0047	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0002t0001g0048	a0001	c0002	t0001	g0048	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0002t0001g0049	a0001	c0002	t0001	g0049	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0002t0001g0050	a0001	c0002	t0001	g0050	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0002t0001g0051	a0001	c0002	t0001	g0051	0/0	1	0	0	0	0	1	MKS1_chr17_58200441_58224255	MKS1
a0001c0002t0001g0052	a0001	c0002	t0001	g0052	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0006t0002g0058	a0001	c0006	t0002	g0058	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0008t0002g0060	a0001	c0008	t0002	g0060	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0001c0010t0001g0044	a0001	c0010	t0001	g0044	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0002c0005t0001g0025	a0002	c0005	t0001	g0025	0/0	2	2	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0003c0003t0001g0063	a0003	c0003	t0001	g0063	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0003c0003t0001g0065	a0003	c0003	t0001	g0065	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0004c0004t0001g0071	a0004	c0004	t0001	g0071	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0004c0004t0001g0073	a0004	c0004	t0001	g0073	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0005c0007t0001g0095	a0005	c0007	t0001	g0095	0/0	1	0	0	1	0	0	MKS1_chr17_58200441_58224255	MKS1
a0006c0009t0004g0111	a0006	c0009	t0004	g0111	0/0	1	1	0	0	0	0	MKS1_chr17_58200441_58224255	MKS1
a0007c0011t0002g0057	a0007	c0011	t0002	g0057	0/0	1	0	0	0	1	0	MKS1_chr17_58200441_58224255	MKS1

sampleid	haplotypeid	ahapid	chapid	thapid	ghapid	gpopname	popname	regionname	genename
HG00099	hp1	a0001	c0001	t0001	g0001	EUR	GBR	MKS1_chr17_58200441_58224255	MKS1
HG00099	hp2	a0001	c0001	t0001	g0005	EUR	GBR	MKS1_chr17_58200441_58224255	MKS1
HG00280	hp1	a0001	c0001	t0001	g0004	EUR	FIN	MKS1_chr17_58200441_58224255	MKS1
HG00280	hp2	a0007	c0011	t0002	g0057	EUR	FIN	MKS1_chr17_58200441_58224255	MKS1
HG00323	hp1	a0001	c0001	t0001	g0001	EUR	FIN	MKS1_chr17_58200441_58224255	MKS1
HG00323	hp2	a0001	c0001	t0007	g0097	EUR	FIN	MKS1_chr17_58200441_58224255	MKS1
HG00423	hp1	a0001	c0006	t0002	g0058	EAS	CHS	MKS1_chr17_58200441_58224255	MKS1
HG00423	hp2	a0001	c0001	t0001	g0003	EAS	CHS	MKS1_chr17_58200441_58224255	MKS1
HG00438	hp1	a0001	c0001	t0001	g0081	EAS	CHS	MKS1_chr17_58200441_58224255	MKS1
HG00438	hp2	a0001	c0001	t0001	g0119	EAS	CHS	MKS1_chr17_58200441_58224255	MKS1
HG00558	hp1	a0001	c0001	t0001	g0039	EAS	CHS	MKS1_chr17_58200441_58224255	MKS1
HG00558	hp2	a0001	c0001	t0001	g0001	EAS	CHS	MKS1_chr17_58200441_58224255	MKS1
HG00597	hp1	a0001	c0001	t0002	g0007	EAS	CHS	MKS1_chr17_58200441_58224255	MKS1
HG00597	hp2	a0001	c0001	t0001	g0001	EAS	CHS	MKS1_chr17_58200441_58224255	MKS1
HG00609	hp1	a0001	c0001	t0001	g0001	EAS	CHS	MKS1_chr17_58200441_58224255	MKS1
HG00609	hp2	a0001	c0001	t0001	g0094	EAS	CHS	MKS1_chr17_58200441_58224255	MKS1
HG00621	hp1	a0001	c0001	t0001	g0001	EAS	CHS	MKS1_chr17_58200441_58224255	MKS1
HG00621	hp2	a0001	c0001	t0001	g0001	EAS	CHS	MKS1_chr17_58200441_58224255	MKS1
HG00639	hp1	a0001	c0001	t0001	g0072	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG00639	hp2	a0001	c0001	t0001	g0001	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG00642	hp1	a0001	c0001	t0001	g0001	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG00642	hp2	a0001	c0001	t0002	g0007	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG00673	hp1	a0001	c0001	t0001	g0084	EAS	CHS	MKS1_chr17_58200441_58224255	MKS1
HG00673	hp2	a0001	c0001	t0001	g0004	EAS	CHS	MKS1_chr17_58200441_58224255	MKS1
HG00741	hp1	a0001	c0001	t0001	g0005	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG00741	hp2	a0001	c0001	t0001	g0017	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG01070	hp1	a0001	c0002	t0001	g0012	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG01070	hp2	a0001	c0001	t0001	g0001	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG01071	hp1	a0001	c0001	t0001	g0001	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG01071	hp2	a0001	c0002	t0001	g0012	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG01074	hp1	a0001	c0001	t0002	g0006	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG01074	hp2	a0001	c0001	t0001	g0003	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG01099	hp1	a0001	c0001	t0001	g0005	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG01099	hp2	a0001	c0001	t0002	g0028	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG01106	hp1	a0001	c0001	t0001	g0037	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG01106	hp2	a0001	c0001	t0002	g0018	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG01109	hp1	a0001	c0001	t0001	g0005	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG01109	hp2	a0001	c0001	t0002	g0018	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG01168	hp1	a0001	c0001	t0001	g0019	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG01168	hp2	a0001	c0002	t0001	g0010	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG01169	hp1	a0001	c0001	t0004	g0024	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG01169	hp2	a0001	c0001	t0001	g0019	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG01243	hp1	a0001	c0001	t0001	g0064	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG01243	hp2	a0001	c0001	t0001	g0004	AMR	PUR	MKS1_chr17_58200441_58224255	MKS1
HG01255	hp1	a0001	c0001	t0001	g0004	AMR	CLM	MKS1_chr17_58200441_58224255	MKS1
HG01255	hp2	a0001	c0001	t0001	g0019	AMR	CLM	MKS1_chr17_58200441_58224255	MKS1
HG01358	hp1	a0001	c0001	t0002	g0018	AMR	CLM	MKS1_chr17_58200441_58224255	MKS1
HG01358	hp2	a0001	c0001	t0001	g0004	AMR	CLM	MKS1_chr17_58200441_58224255	MKS1
HG01516	hp1	a0001	c0001	t0001	g0067	EUR	IBS	MKS1_chr17_58200441_58224255	MKS1
HG01516	hp2	a0001	c0001	t0001	g0117	EUR	IBS	MKS1_chr17_58200441_58224255	MKS1
HG01517	hp1	a0001	c0001	t0001	g0002	EUR	IBS	MKS1_chr17_58200441_58224255	MKS1
HG01517	hp2	a0001	c0001	t0001	g0021	EUR	IBS	MKS1_chr17_58200441_58224255	MKS1
HG01884	hp1	a0001	c0002	t0001	g0052	AFR	ACB	MKS1_chr17_58200441_58224255	MKS1
HG01884	hp2	a0001	c0001	t0003	g0009	AFR	ACB	MKS1_chr17_58200441_58224255	MKS1
HG01891	hp1	a0001	c0001	t0003	g0009	AFR	ACB	MKS1_chr17_58200441_58224255	MKS1
HG01891	hp2	a0001	c0001	t0001	g0106	AFR	ACB	MKS1_chr17_58200441_58224255	MKS1
HG01943	hp1	a0001	c0001	t0001	g0075	AMR	PEL	MKS1_chr17_58200441_58224255	MKS1
HG01943	hp2	a0001	c0001	t0001	g0004	AMR	PEL	MKS1_chr17_58200441_58224255	MKS1
HG01952	hp1	a0001	c0001	t0001	g0015	AMR	PEL	MKS1_chr17_58200441_58224255	MKS1
HG01952	hp2	a0001	c0001	t0001	g0004	AMR	PEL	MKS1_chr17_58200441_58224255	MKS1
HG01978	hp1	a0001	c0001	t0001	g0001	AMR	PEL	MKS1_chr17_58200441_58224255	MKS1
HG01978	hp2	a0001	c0001	t0001	g0005	AMR	PEL	MKS1_chr17_58200441_58224255	MKS1
HG01981	hp1	a0001	c0001	t0001	g0001	AMR	PEL	MKS1_chr17_58200441_58224255	MKS1
HG01981	hp2	a0001	c0001	t0001	g0036	AMR	PEL	MKS1_chr17_58200441_58224255	MKS1
HG02004	hp1	a0001	c0001	t0001	g0004	AMR	PEL	MKS1_chr17_58200441_58224255	MKS1
HG02004	hp2	a0001	c0001	t0001	g0036	AMR	PEL	MKS1_chr17_58200441_58224255	MKS1
HG02015	hp1	a0001	c0001	t0001	g0039	EAS	KHV	MKS1_chr17_58200441_58224255	MKS1
HG02015	hp2	a0001	c0008	t0002	g0060	EAS	KHV	MKS1_chr17_58200441_58224255	MKS1
HG02027	hp1	a0001	c0001	t0001	g0041	EAS	KHV	MKS1_chr17_58200441_58224255	MKS1
HG02027	hp2	a0001	c0001	t0001	g0002	EAS	KHV	MKS1_chr17_58200441_58224255	MKS1
HG02040	hp1	a0004	c0004	t0001	g0071	EAS	KHV	MKS1_chr17_58200441_58224255	MKS1
HG02040	hp2	a0001	c0001	t0001	g0101	EAS	KHV	MKS1_chr17_58200441_58224255	MKS1
HG02055	hp1	a0001	c0001	t0001	g0005	AFR	ACB	MKS1_chr17_58200441_58224255	MKS1
HG02055	hp2	a0001	c0002	t0001	g0008	AFR	ACB	MKS1_chr17_58200441_58224255	MKS1
HG02056	hp1	a0001	c0001	t0005	g0022	EAS	KHV	MKS1_chr17_58200441_58224255	MKS1
HG02056	hp2	a0001	c0001	t0002	g0030	EAS	KHV	MKS1_chr17_58200441_58224255	MKS1
HG02071	hp1	a0001	c0001	t0001	g0001	EAS	KHV	MKS1_chr17_58200441_58224255	MKS1
HG02071	hp2	a0001	c0001	t0001	g0041	EAS	KHV	MKS1_chr17_58200441_58224255	MKS1
HG02074	hp1	a0001	c0001	t0001	g0002	EAS	KHV	MKS1_chr17_58200441_58224255	MKS1
HG02074	hp2	a0001	c0001	t0001	g0021	EAS	KHV	MKS1_chr17_58200441_58224255	MKS1
HG02080	hp1	a0001	c0001	t0001	g0100	EAS	KHV	MKS1_chr17_58200441_58224255	MKS1
HG02080	hp2	a0001	c0001	t0001	g0003	EAS	KHV	MKS1_chr17_58200441_58224255	MKS1
HG02129	hp1	a0001	c0001	t0001	g0002	EAS	KHV	MKS1_chr17_58200441_58224255	MKS1
HG02129	hp2	a0001	c0001	t0001	g0004	EAS	KHV	MKS1_chr17_58200441_58224255	MKS1
HG02132	hp1	a0001	c0001	t0001	g0003	EAS	KHV	MKS1_chr17_58200441_58224255	MKS1
HG02132	hp2	a0001	c0001	t0001	g0110	EAS	KHV	MKS1_chr17_58200441_58224255	MKS1
HG02135	hp1	a0001	c0001	t0001	g0002	EAS	KHV	MKS1_chr17_58200441_58224255	MKS1
HG02135	hp2	a0001	c0001	t0001	g0004	EAS	KHV	MKS1_chr17_58200441_58224255	MKS1
HG02145	hp1	a0001	c0001	t0003	g0009	AFR	ACB	MKS1_chr17_58200441_58224255	MKS1
HG02145	hp2	a0001	c0001	t0001	g0001	AFR	ACB	MKS1_chr17_58200441_58224255	MKS1
HG02155	hp1	a0001	c0001	t0001	g0078	EAS	CDX	MKS1_chr17_58200441_58224255	MKS1
HG02155	hp2	a0001	c0001	t0001	g0108	EAS	CDX	MKS1_chr17_58200441_58224255	MKS1
HG02165	hp1	a0001	c0001	t0001	g0001	EAS	CDX	MKS1_chr17_58200441_58224255	MKS1
HG02165	hp2	a0001	c0001	t0001	g0085	EAS	CDX	MKS1_chr17_58200441_58224255	MKS1
HG02257	hp1	a0001	c0001	t0001	g0034	AFR	ACB	MKS1_chr17_58200441_58224255	MKS1
HG02257	hp2	a0001	c0001	t0003	g0122	AFR	ACB	MKS1_chr17_58200441_58224255	MKS1
HG02258	hp1	a0001	c0001	t0003	g0009	AFR	ACB	MKS1_chr17_58200441_58224255	MKS1
HG02258	hp2	a0001	c0001	t0001	g0003	AFR	ACB	MKS1_chr17_58200441_58224255	MKS1
HG02273	hp1	a0001	c0001	t0001	g0004	AMR	PEL	MKS1_chr17_58200441_58224255	MKS1
HG02273	hp2	a0001	c0001	t0001	g0088	AMR	PEL	MKS1_chr17_58200441_58224255	MKS1
HG02280	hp1	a0001	c0001	t0001	g0003	AFR	ACB	MKS1_chr17_58200441_58224255	MKS1
HG02280	hp2	a0001	c0002	t0001	g0047	AFR	ACB	MKS1_chr17_58200441_58224255	MKS1
HG02293	hp1	a0001	c0001	t0001	g0004	AMR	PEL	MKS1_chr17_58200441_58224255	MKS1
HG02293	hp2	a0001	c0002	t0001	g0008	AMR	PEL	MKS1_chr17_58200441_58224255	MKS1
HG02300	hp1	a0001	c0001	t0001	g0077	AMR	PEL	MKS1_chr17_58200441_58224255	MKS1
HG02300	hp2	a0001	c0001	t0001	g0003	AMR	PEL	MKS1_chr17_58200441_58224255	MKS1
HG02451	hp1	a0002	c0005	t0001	g0025	AFR	ACB	MKS1_chr17_58200441_58224255	MKS1
HG02451	hp2	a0001	c0001	t0001	g0015	AFR	ACB	MKS1_chr17_58200441_58224255	MKS1
HG02602	hp1	a0001	c0001	t0001	g0001	SAS	PJL	MKS1_chr17_58200441_58224255	MKS1
HG02602	hp2	a0001	c0001	t0002	g0028	SAS	PJL	MKS1_chr17_58200441_58224255	MKS1
HG02622	hp1	a0001	c0001	t0001	g0066	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG02622	hp2	a0001	c0001	t0001	g0016	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG02630	hp1	a0001	c0001	t0004	g0024	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG02630	hp2	a0003	c0003	t0001	g0065	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG02717	hp1	a0001	c0001	t0001	g0014	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG02717	hp2	a0001	c0001	t0006	g0043	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG02723	hp1	a0003	c0003	t0001	g0063	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG02723	hp2	a0001	c0001	t0001	g0034	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG02735	hp1	a0001	c0002	t0001	g0051	SAS	PJL	MKS1_chr17_58200441_58224255	MKS1
HG02735	hp2	a0001	c0001	t0002	g0007	SAS	PJL	MKS1_chr17_58200441_58224255	MKS1
HG02738	hp1	a0001	c0001	t0001	g0003	SAS	PJL	MKS1_chr17_58200441_58224255	MKS1
HG02738	hp2	a0001	c0001	t0001	g0020	SAS	PJL	MKS1_chr17_58200441_58224255	MKS1
HG02809	hp1	a0001	c0002	t0001	g0010	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG02809	hp2	a0001	c0001	t0001	g0001	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG02818	hp1	a0001	c0001	t0001	g0002	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG02818	hp2	a0001	c0001	t0001	g0029	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG02886	hp1	a0001	c0002	t0001	g0008	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG02886	hp2	a0001	c0001	t0001	g0005	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG02895	hp1	a0001	c0001	t0001	g0031	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG02895	hp2	a0001	c0001	t0004	g0096	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG02896	hp1	a0001	c0001	t0001	g0016	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG02896	hp2	a0001	c0001	t0003	g0009	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG02897	hp1	a0001	c0001	t0001	g0016	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG02897	hp2	a0001	c0001	t0001	g0031	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG02922	hp1	a0001	c0001	t0001	g0092	AFR	ESN	MKS1_chr17_58200441_58224255	MKS1
HG02922	hp2	a0001	c0001	t0002	g0006	AFR	ESN	MKS1_chr17_58200441_58224255	MKS1
HG02965	hp1	a0001	c0010	t0001	g0044	AFR	ESN	MKS1_chr17_58200441_58224255	MKS1
HG02965	hp2	a0001	c0002	t0001	g0050	AFR	ESN	MKS1_chr17_58200441_58224255	MKS1
HG02970	hp1	a0001	c0001	t0003	g0009	AFR	ESN	MKS1_chr17_58200441_58224255	MKS1
HG02970	hp2	a0001	c0001	t0001	g0032	AFR	ESN	MKS1_chr17_58200441_58224255	MKS1
HG02976	hp1	a0001	c0001	t0001	g0015	AFR	ESN	MKS1_chr17_58200441_58224255	MKS1
HG02976	hp2	a0001	c0001	t0001	g0062	AFR	ESN	MKS1_chr17_58200441_58224255	MKS1
HG03041	hp1	a0001	c0001	t0001	g0005	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG03041	hp2	a0001	c0002	t0001	g0012	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG03098	hp1	a0001	c0001	t0001	g0004	AFR	MSL	MKS1_chr17_58200441_58224255	MKS1
HG03098	hp2	a0001	c0001	t0001	g0002	AFR	MSL	MKS1_chr17_58200441_58224255	MKS1
HG03130	hp1	a0001	c0001	t0001	g0014	AFR	ESN	MKS1_chr17_58200441_58224255	MKS1
HG03130	hp2	a0001	c0002	t0001	g0008	AFR	ESN	MKS1_chr17_58200441_58224255	MKS1
HG03139	hp1	a0001	c0001	t0001	g0015	AFR	ESN	MKS1_chr17_58200441_58224255	MKS1
HG03139	hp2	a0001	c0001	t0001	g0023	AFR	ESN	MKS1_chr17_58200441_58224255	MKS1
HG03195	hp1	a0001	c0001	t0001	g0023	AFR	ESN	MKS1_chr17_58200441_58224255	MKS1
HG03195	hp2	a0001	c0001	t0001	g0005	AFR	ESN	MKS1_chr17_58200441_58224255	MKS1
HG03209	hp1	a0001	c0001	t0001	g0069	AFR	MSL	MKS1_chr17_58200441_58224255	MKS1
HG03209	hp2	a0001	c0002	t0001	g0010	AFR	MSL	MKS1_chr17_58200441_58224255	MKS1
HG03225	hp1	a0001	c0001	t0001	g0003	AFR	MSL	MKS1_chr17_58200441_58224255	MKS1
HG03225	hp2	a0001	c0001	t0001	g0116	AFR	MSL	MKS1_chr17_58200441_58224255	MKS1
HG03453	hp1	a0001	c0001	t0001	g0045	AFR	MSL	MKS1_chr17_58200441_58224255	MKS1
HG03453	hp2	a0001	c0001	t0001	g0109	AFR	MSL	MKS1_chr17_58200441_58224255	MKS1
HG03486	hp1	a0001	c0001	t0001	g0014	AFR	MSL	MKS1_chr17_58200441_58224255	MKS1
HG03486	hp2	a0001	c0001	t0001	g0005	AFR	MSL	MKS1_chr17_58200441_58224255	MKS1
HG03490	hp1	a0001	c0001	t0002	g0030	SAS	PJL	MKS1_chr17_58200441_58224255	MKS1
HG03490	hp2	a0001	c0001	t0001	g0005	SAS	PJL	MKS1_chr17_58200441_58224255	MKS1
HG03491	hp1	a0001	c0001	t0001	g0076	SAS	PJL	MKS1_chr17_58200441_58224255	MKS1
HG03491	hp2	a0001	c0001	t0001	g0040	SAS	PJL	MKS1_chr17_58200441_58224255	MKS1
HG03492	hp1	a0001	c0001	t0001	g0005	SAS	PJL	MKS1_chr17_58200441_58224255	MKS1
HG03492	hp2	a0001	c0001	t0001	g0040	SAS	PJL	MKS1_chr17_58200441_58224255	MKS1
HG03516	hp1	a0001	c0001	t0001	g0002	AFR	ESN	MKS1_chr17_58200441_58224255	MKS1
HG03516	hp2	a0001	c0001	t0001	g0089	AFR	ESN	MKS1_chr17_58200441_58224255	MKS1
HG03540	hp1	a0001	c0001	t0001	g0002	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG03540	hp2	a0001	c0001	t0001	g0107	AFR	GWD	MKS1_chr17_58200441_58224255	MKS1
HG03579	hp1	a0001	c0001	t0001	g0091	AFR	MSL	MKS1_chr17_58200441_58224255	MKS1
HG03579	hp2	a0001	c0002	t0001	g0026	AFR	MSL	MKS1_chr17_58200441_58224255	MKS1
HG03654	hp1	a0001	c0001	t0001	g0086	SAS	PJL	MKS1_chr17_58200441_58224255	MKS1
HG03654	hp2	a0001	c0001	t0001	g0005	SAS	PJL	MKS1_chr17_58200441_58224255	MKS1
HG03688	hp1	a0001	c0001	t0001	g0003	SAS	STU	MKS1_chr17_58200441_58224255	MKS1
HG03688	hp2	a0001	c0001	t0001	g0003	SAS	STU	MKS1_chr17_58200441_58224255	MKS1
HG03710	hp1	a0001	c0001	t0001	g0093	SAS	PJL	MKS1_chr17_58200441_58224255	MKS1
HG03710	hp2	a0001	c0001	t0001	g0021	SAS	PJL	MKS1_chr17_58200441_58224255	MKS1
HG03831	hp1	a0001	c0001	t0001	g0003	SAS	BEB	MKS1_chr17_58200441_58224255	MKS1
HG03831	hp2	a0001	c0001	t0001	g0020	SAS	BEB	MKS1_chr17_58200441_58224255	MKS1
HG03927	hp1	a0001	c0001	t0001	g0113	SAS	BEB	MKS1_chr17_58200441_58224255	MKS1
HG03927	hp2	a0001	c0001	t0001	g0003	SAS	BEB	MKS1_chr17_58200441_58224255	MKS1
HG04115	hp1	a0001	c0001	t0001	g0004	SAS	STU	MKS1_chr17_58200441_58224255	MKS1
HG04115	hp2	a0001	c0001	t0001	g0001	SAS	STU	MKS1_chr17_58200441_58224255	MKS1
HG04184	hp1	a0001	c0001	t0001	g0033	SAS	BEB	MKS1_chr17_58200441_58224255	MKS1
HG04184	hp2	a0001	c0001	t0001	g0001	SAS	BEB	MKS1_chr17_58200441_58224255	MKS1
HG04199	hp1	a0001	c0001	t0001	g0020	SAS	STU	MKS1_chr17_58200441_58224255	MKS1
HG04199	hp2	a0001	c0001	t0002	g0007	SAS	STU	MKS1_chr17_58200441_58224255	MKS1
HG04228	hp1	a0001	c0001	t0001	g0104	SAS	STU	MKS1_chr17_58200441_58224255	MKS1
HG04228	hp2	a0001	c0001	t0001	g0099	SAS	STU	MKS1_chr17_58200441_58224255	MKS1
NA18522	hp1	a0001	c0002	t0001	g0010	AFR	YRI	MKS1_chr17_58200441_58224255	MKS1
NA18522	hp2	a0001	c0001	t0001	g0032	AFR	YRI	MKS1_chr17_58200441_58224255	MKS1
NA18747	hp1	a0001	c0001	t0001	g0001	EAS	CHB	MKS1_chr17_58200441_58224255	MKS1
NA18747	hp2	a0005	c0007	t0001	g0095	EAS	CHB	MKS1_chr17_58200441_58224255	MKS1
NA18939	hp1	a0001	c0002	t0001	g0011	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18939	hp2	a0001	c0001	t0001	g0001	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18940	hp1	a0001	c0001	t0001	g0115	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18940	hp2	a0001	c0001	t0001	g0038	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18942	hp1	a0001	c0001	t0001	g0002	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18942	hp2	a0001	c0001	t0002	g0006	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18943	hp1	a0001	c0001	t0002	g0059	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18943	hp2	a0001	c0001	t0001	g0002	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18944	hp1	a0001	c0001	t0001	g0001	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18944	hp2	a0001	c0001	t0001	g0120	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18945	hp1	a0001	c0001	t0001	g0001	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18945	hp2	a0001	c0001	t0001	g0002	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18946	hp1	a0001	c0001	t0001	g0004	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18946	hp2	a0001	c0001	t0001	g0082	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18947	hp1	a0001	c0001	t0001	g0001	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18947	hp2	a0001	c0001	t0002	g0027	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18948	hp1	a0001	c0001	t0001	g0002	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18948	hp2	a0001	c0001	t0001	g0001	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18952	hp1	a0001	c0001	t0001	g0114	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18952	hp2	a0001	c0001	t0001	g0003	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18954	hp1	a0001	c0001	t0001	g0001	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18954	hp2	a0001	c0002	t0001	g0011	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18957	hp1	a0001	c0001	t0001	g0001	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18957	hp2	a0001	c0001	t0001	g0079	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18960	hp1	a0001	c0001	t0001	g0002	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18960	hp2	a0001	c0001	t0001	g0001	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18961	hp1	a0001	c0001	t0005	g0022	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18961	hp2	a0001	c0001	t0001	g0001	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18966	hp1	a0001	c0001	t0001	g0003	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18966	hp2	a0001	c0001	t0001	g0042	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18968	hp1	a0001	c0001	t0001	g0001	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18968	hp2	a0001	c0001	t0001	g0112	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18970	hp1	a0001	c0001	t0002	g0027	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18970	hp2	a0001	c0001	t0001	g0001	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18972	hp1	a0001	c0001	t0002	g0013	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18972	hp2	a0001	c0001	t0001	g0003	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18973	hp1	a0001	c0001	t0001	g0002	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18973	hp2	a0001	c0001	t0001	g0003	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18978	hp1	a0001	c0001	t0001	g0003	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18978	hp2	a0001	c0001	t0002	g0007	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18979	hp1	a0001	c0001	t0001	g0017	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18979	hp2	a0004	c0004	t0001	g0073	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18981	hp1	a0001	c0001	t0002	g0013	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18981	hp2	a0001	c0001	t0001	g0003	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18982	hp1	a0001	c0001	t0002	g0006	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18982	hp2	a0001	c0001	t0001	g0118	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18984	hp1	a0001	c0001	t0002	g0006	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18984	hp2	a0001	c0001	t0001	g0003	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18985	hp1	a0001	c0001	t0005	g0022	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18985	hp2	a0001	c0001	t0001	g0001	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18990	hp1	a0001	c0001	t0001	g0002	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18990	hp2	a0001	c0001	t0001	g0003	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18993	hp1	a0001	c0001	t0001	g0002	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18993	hp2	a0001	c0001	t0001	g0001	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18994	hp1	a0001	c0001	t0001	g0002	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18994	hp2	a0001	c0001	t0001	g0003	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18997	hp1	a0001	c0001	t0001	g0090	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18997	hp2	a0001	c0001	t0001	g0070	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18998	hp1	a0001	c0001	t0001	g0003	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA18998	hp2	a0001	c0001	t0001	g0035	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19000	hp1	a0001	c0002	t0001	g0012	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19000	hp2	a0001	c0001	t0001	g0017	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19002	hp1	a0001	c0001	t0001	g0001	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19002	hp2	a0001	c0001	t0005	g0103	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19003	hp1	a0001	c0001	t0001	g0001	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19003	hp2	a0001	c0002	t0001	g0011	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19006	hp1	a0001	c0001	t0001	g0002	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19006	hp2	a0001	c0001	t0001	g0017	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19007	hp1	a0001	c0001	t0001	g0002	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19007	hp2	a0001	c0001	t0001	g0042	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19009	hp1	a0001	c0001	t0001	g0002	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19009	hp2	a0001	c0001	t0001	g0003	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19012	hp1	a0001	c0001	t0002	g0006	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19012	hp2	a0001	c0001	t0001	g0004	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19030	hp1	a0001	c0001	t0001	g0068	AFR	LWK	MKS1_chr17_58200441_58224255	MKS1
NA19030	hp2	a0001	c0002	t0001	g0008	AFR	LWK	MKS1_chr17_58200441_58224255	MKS1
NA19043	hp1	a0001	c0002	t0001	g0010	AFR	LWK	MKS1_chr17_58200441_58224255	MKS1
NA19043	hp2	a0006	c0009	t0004	g0111	AFR	LWK	MKS1_chr17_58200441_58224255	MKS1
NA19054	hp1	a0001	c0001	t0001	g0098	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19054	hp2	a0001	c0001	t0002	g0055	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19060	hp1	a0001	c0001	t0001	g0002	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19060	hp2	a0001	c0001	t0001	g0001	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19063	hp1	a0001	c0002	t0001	g0011	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19063	hp2	a0001	c0001	t0001	g0121	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19064	hp1	a0001	c0001	t0001	g0002	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19064	hp2	a0001	c0001	t0001	g0087	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19065	hp1	a0001	c0001	t0001	g0001	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19065	hp2	a0001	c0001	t0002	g0053	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19066	hp1	a0001	c0001	t0001	g0003	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19066	hp2	a0001	c0001	t0002	g0007	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19068	hp1	a0001	c0001	t0001	g0004	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19068	hp2	a0001	c0001	t0001	g0083	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19070	hp1	a0001	c0001	t0001	g0001	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19070	hp2	a0001	c0001	t0001	g0002	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19078	hp1	a0001	c0001	t0001	g0003	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19078	hp2	a0001	c0001	t0002	g0007	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19081	hp1	a0001	c0001	t0001	g0035	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19081	hp2	a0001	c0001	t0001	g0002	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19082	hp1	a0001	c0001	t0002	g0013	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19082	hp2	a0001	c0001	t0001	g0001	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19083	hp1	a0001	c0001	t0002	g0056	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19083	hp2	a0001	c0001	t0001	g0004	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19085	hp1	a0001	c0001	t0001	g0004	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19085	hp2	a0001	c0001	t0002	g0006	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19089	hp1	a0001	c0001	t0001	g0002	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19089	hp2	a0001	c0001	t0001	g0004	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19090	hp1	a0001	c0001	t0001	g0002	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19090	hp2	a0001	c0001	t0001	g0001	EAS	JPT	MKS1_chr17_58200441_58224255	MKS1
NA19240	hp1	a0001	c0001	t0001	g0029	AFR	YRI	MKS1_chr17_58200441_58224255	MKS1
NA19240	hp2	a0001	c0002	t0001	g0048	AFR	YRI	MKS1_chr17_58200441_58224255	MKS1
NA20129	hp1	a0001	c0001	t0001	g0004	AFR	ASW	MKS1_chr17_58200441_58224255	MKS1
NA20129	hp2	a0001	c0002	t0001	g0046	AFR	ASW	MKS1_chr17_58200441_58224255	MKS1
NA20752	hp1	a0001	c0001	t0002	g0054	EUR	TSI	MKS1_chr17_58200441_58224255	MKS1
NA20752	hp2	a0001	c0001	t0004	g0024	EUR	TSI	MKS1_chr17_58200441_58224255	MKS1
NA20805	hp1	a0001	c0001	t0001	g0080	EUR	TSI	MKS1_chr17_58200441_58224255	MKS1
NA20805	hp2	a0001	c0001	t0002	g0013	EUR	TSI	MKS1_chr17_58200441_58224255	MKS1
NA20905	hp1	a0001	c0001	t0001	g0033	SAS	GIH	MKS1_chr17_58200441_58224255	MKS1
NA20905	hp2	a0001	c0001	t0001	g0037	SAS	GIH	MKS1_chr17_58200441_58224255	MKS1
HG02109	hp1	a0001	c0001	t0001	g0038	AFR	ACB	MKS1_chr17_58200441_58224255	MKS1
HG02109	hp2	a0001	c0001	t0001	g0014	AFR	ACB	MKS1_chr17_58200441_58224255	MKS1
HG02486	hp1	a0001	c0001	t0001	g0023	AFR	ACB	MKS1_chr17_58200441_58224255	MKS1
HG02486	hp2	a0001	c0002	t0001	g0026	AFR	ACB	MKS1_chr17_58200441_58224255	MKS1
HG03471	hp1	a0001	c0001	t0001	g0016	AFR	MSL	MKS1_chr17_58200441_58224255	MKS1
HG03471	hp2	a0001	c0002	t0001	g0008	AFR	MSL	MKS1_chr17_58200441_58224255	MKS1
HG06807	hp1	a0002	c0005	t0001	g0025	AFR	USA	MKS1_chr17_58200441_58224255	MKS1
HG06807	hp2	a0001	c0001	t0001	g0074	AFR	USA	MKS1_chr17_58200441_58224255	MKS1
NA20300	hp1	a0001	c0001	t0006	g0043	AFR	USA	MKS1_chr17_58200441_58224255	MKS1
NA20300	hp2	a0001	c0001	t0001	g0001	AFR	USA	MKS1_chr17_58200441_58224255	MKS1
NA21309	hp1	a0001	c0001	t0001	g0105	AFR	LWK	MKS1_chr17_58200441_58224255	MKS1
NA21309	hp2	a0001	c0002	t0001	g0049	AFR	LWK	MKS1_chr17_58200441_58224255	MKS1
homoSapiens_chm13v2	hp1	a0001	c0001	t0002	g0061	REF	REF	MKS1_chr17_58200441_58224255	MKS1
homoSapiens_grch38	hp1	a0001	c0001	t0001	g0102	REF	REF	MKS1_chr17_58200441_58224255	MKS1

chr:pos	ref	alt	# # of ahapid:amio-acid(protein) level	ahapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna_pos_length	cds_pos_length	aa_pos_length	chr	pos
chr17:58206158	C C	T T	1	a0004 a0004	2	HG02040.hp1 NA18979.hp2 HG02040.hp1 NA18979.hp2	missense_variant	MODERATE	c.1601G>A c.1601G>A	p.Arg534Gln p.Arg534Gln	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	18/18	1626/2343	1601/1680	534/559	chr17	58206158
chr17:58206366	G G	C C	1	a0006 a0006	1	NA19043.hp2 NA19043.hp2	missense_variant	MODERATE	c.1505C>G c.1505C>G	p.Ser502Trp p.Ser502Trp	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	17/18	1530/2343	1505/1680	502/559	chr17	58206366
chr17:58206519	C C	T T	1	a0003 a0003	2	HG02630.hp2 HG02723.hp1 HG02630.hp2 HG02723.hp1	missense_variant	MODERATE	c.1436G>A c.1436G>A	p.Arg479His p.Arg479His	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	16/18	1461/2343	1436/1680	479/559	chr17	58206519
chr17:58207935	C C	T T	1	a0005 a0005	1	NA18747.hp2 NA18747.hp2	missense_variant	MODERATE	c.1232G>A c.1232G>A	p.Arg411His p.Arg411His	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	14/18	1257/2343	1232/1680	411/559	chr17	58207935
chr17:58212419	T T	C C	1	a0002 a0002	2	HG02451.hp1 HG06807.hp1 HG02451.hp1 HG06807.hp1	missense_variant	MODERATE	c.874A>G c.874A>G	p.Lys292Glu p.Lys292Glu	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	9/18	899/2343	874/1680	292/559	chr17	58212419
chr17:58216714	G G	C C	1	a0007 a0007	1	HG00280.hp2 HG00280.hp2	missense_variant	MODERATE	c.213C>G c.213C>G	p.Asp71Glu p.Asp71Glu	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	3/18	238/2343	213/1680	71/559	chr17	58216714

chr:pos	ref	alt	# # of chapid	chapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna_pos_length	cds_pos_length	aa_pos_length	chr	pos
chr17:58206088	C C	G G	1	a0001c0002 a0001c0002	28	HG01070.hp1 HG01071.hp2 HG01168.hp2 others(25): Show HG01070.hp1 HG01071.hp2 HG01168.hp2 HG01884.hp1 HG02055.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03471.hp2 HG03579.hp2 NA18522.hp1 NA18939.hp1 NA18954.hp2 NA19000.hp1 NA19003.hp2 NA19030.hp2 NA19043.hp1 NA19063.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp2	synonymous_variant	LOW	c.1671G>C c.1671G>C	p.Leu557Leu p.Leu557Leu	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	18/18	1696/2343	1671/1680	557/559	chr17	58206088
chr17:58206365	C C	T T	1	a0001c0008 a0001c0008	1	HG02015.hp2 HG02015.hp2	synonymous_variant	LOW	c.1506G>A c.1506G>A	p.Ser502Ser p.Ser502Ser	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	17/18	1531/2343	1506/1680	502/559	chr17	58206365
chr17:58212390	G G	A A	1	a0001c0010 a0001c0010	1	HG02965.hp1 HG02965.hp1	synonymous_variant	LOW	c.903C>T c.903C>T	p.Thr301Thr p.Thr301Thr	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	9/18	928/2343	903/1680	301/559	chr17	58212390
chr17:58213785	C C	T T	1	a0001c0006 a0001c0006	1	HG00423.hp1 HG00423.hp1	synonymous_variant	LOW	c.729G>A c.729G>A	p.Thr243Thr p.Thr243Thr	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	7/18	754/2343	729/1680	243/559	chr17	58213785

chr:pos	ref	alt	# # of thapid:transcript level	thapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	chr	pos
chr17:58205607	G G	C C	2	a0001c0001t0004 a0006c0009t0004 a0001c0001t0004 a0006c0009t0004	5	HG01169.hp1 HG02630.hp1 HG02895.hp2 others(2): Show HG01169.hp1 HG02630.hp1 HG02895.hp2 NA19043.hp2 NA20752.hp2	3_prime_UTR_variant	MODIFIER	c.472C>G c.472C>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	18/18	472	chr17	58205607
chr17:58205665	G G	A A	4	a0001c0001t0002 a0001c0006t0002 a0001c0008t0002 others(1): Show a0001c0001t0002 a0001c0006t0002 a0001c0008t0002 a0007c0011t0002	36	HG00280.hp2 HG00423.hp1 HG00597.hp1 others(33): Show HG00280.hp2 HG00423.hp1 HG00597.hp1 HG00642.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01358.hp1 HG02015.hp2 HG02056.hp2 HG02602.hp2 HG02735.hp2 HG02922.hp2 HG03490.hp1 HG04199.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18970.hp1 NA18972.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA19012.hp1 NA19054.hp2 NA19065.hp2 NA19066.hp2 NA19078.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	3_prime_UTR_variant	MODIFIER	c.414C>T c.414C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	18/18	414	chr17	58205665
chr17:58205757	C C	A A	1	a0001c0001t0007 a0001c0001t0007	1	HG00323.hp2 HG00323.hp2	3_prime_UTR_variant	MODIFIER	c.322G>T c.322G>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	18/18	322	chr17	58205757
chr17:58205945	G G	A A	1	a0001c0001t0005 a0001c0001t0005	4	HG02056.hp1 NA18961.hp1 NA18985.hp1 others(1): Show HG02056.hp1 NA18961.hp1 NA18985.hp1 NA19002.hp2	3_prime_UTR_variant	MODIFIER	c.134C>T c.134C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	18/18	134	chr17	58205945
chr17:58206004	G G	A A	4	a0001c0001t0002 a0001c0006t0002 a0001c0008t0002 others(1): Show a0001c0001t0002 a0001c0006t0002 a0001c0008t0002 a0007c0011t0002	36	HG00280.hp2 HG00423.hp1 HG00597.hp1 others(33): Show HG00280.hp2 HG00423.hp1 HG00597.hp1 HG00642.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01358.hp1 HG02015.hp2 HG02056.hp2 HG02602.hp2 HG02735.hp2 HG02922.hp2 HG03490.hp1 HG04199.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18970.hp1 NA18972.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA19012.hp1 NA19054.hp2 NA19065.hp2 NA19066.hp2 NA19078.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	3_prime_UTR_variant	MODIFIER	c.75C>T c.75C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	18/18	75	chr17	58206004
chr17:58219248	G G	C C	1	a0001c0001t0003 a0001c0001t0003	7	HG01884.hp2 HG01891.hp1 HG02145.hp1 others(4): Show HG01884.hp2 HG01891.hp1 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02896.hp2 HG02970.hp1	5_prime_UTR_variant	MODIFIER	c.-18C>G c.-18C>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	1/18	18	chr17	58219248
chr17:58219250	G G	A A	1	a0001c0001t0006 a0001c0001t0006	2	HG02717.hp2 NA20300.hp1 HG02717.hp2 NA20300.hp1	5_prime_UTR_premature_start_codon_gain_variant	LOW	c.-20C>T c.-20C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	1/18		chr17	58219250

chr:pos	ref	alt	# # of ghapid:genebody level	ghapids	# # of haplotypeids	haplotypeids	annotation	impact	hgvs_c	genename	geneid	featuretype	featureid	genebody_biotype	rank	chr	pos
chr17:58206596	C C	G G	1	a0001c0001t0001g0034 a0001c0001t0001g0034	2	HG02257.hp1 HG02723.hp2 HG02257.hp1 HG02723.hp2	intron_variant	MODIFIER	c.1408-49G>C c.1408-49G>C	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	15/17	chr17	58206596
chr17:58206662	G G	T T	1	a0001c0001t0001g0045 a0001c0001t0001g0045	1	HG03453.hp1 HG03453.hp1	intron_variant	MODIFIER	c.1408-115C>A c.1408-115C>A	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	15/17	chr17	58206662
chr17:58206734	C C	G G	3	a0001c0001t0001g0016 a0001c0001t0001g0091 a0001c0001t0001g0109 a0001c0001t0001g0016 a0001c0001t0001g0091 a0001c0001t0001g0109	6	HG02622.hp2 HG02896.hp1 HG02897.hp1 others(3): Show HG02622.hp2 HG02896.hp1 HG02897.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp1	intron_variant	MODIFIER	c.1408-187G>C c.1408-187G>C	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	15/17	chr17	58206734
chr17:58206787	G G	A A	3	a0001c0001t0001g0083 a0001c0001t0001g0098 a0001c0001t0001g0112 a0001c0001t0001g0083 a0001c0001t0001g0098 a0001c0001t0001g0112	3	NA18968.hp2 NA19054.hp1 NA19068.hp2 NA18968.hp2 NA19054.hp1 NA19068.hp2	intron_variant	MODIFIER	c.1408-240C>T c.1408-240C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	15/17	chr17	58206787
chr17:58206874	T T	C C	2	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0105 a0001c0001t0001g0106	2	HG01891.hp2 NA21309.hp1 HG01891.hp2 NA21309.hp1	intron_variant	MODIFIER	c.1407+211A>G c.1407+211A>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	15/17	chr17	58206874
chr17:58206997	C C	G G	1	a0001c0001t0001g0075 a0001c0001t0001g0075	1	HG01943.hp1 HG01943.hp1	intron_variant	MODIFIER	c.1407+88G>C c.1407+88G>C	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	15/17	chr17	58206997
chr17:58207064	C C	T T	1	a0001c0001t0002g0059 a0001c0001t0002g0059	1	NA18943.hp1 NA18943.hp1	intron_variant	MODIFIER	c.1407+21G>A c.1407+21G>A	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	15/17	chr17	58207064
chr17:58207376	G G	A A	1	a0001c0002t0001g0046 a0001c0002t0001g0046	1	NA20129.hp2 NA20129.hp2	intron_variant	MODIFIER	c.1274-158C>T c.1274-158C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	14/17	chr17	58207376
chr17:58207520	A A	G G	1	a0001c0001t0001g0045 a0001c0001t0001g0045	1	HG03453.hp1 HG03453.hp1	intron_variant	MODIFIER	c.1274-302T>C c.1274-302T>C	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	14/17	chr17	58207520
chr17:58207883	C C	T T	3	a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0010t0001g0044 a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0010t0001g0044	3	HG02965.hp1 HG03516.hp2 HG06807.hp2 HG02965.hp1 HG03516.hp2 HG06807.hp2	intron_variant	MODIFIER	c.1273+11G>A c.1273+11G>A	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	14/17	chr17	58207883
chr17:58208272	A A	G G	1	a0001c0002t0001g0046 a0001c0002t0001g0046	1	NA20129.hp2 NA20129.hp2	intron_variant	MODIFIER	c.1096-98T>C c.1096-98T>C	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	12/17	chr17	58208272
chr17:58208388	A A	C C	1	a0001c0001t0001g0078 a0001c0001t0001g0078	1	HG02155.hp1 HG02155.hp1	intron_variant	MODIFIER	c.1095+125T>G c.1095+125T>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	12/17	chr17	58208388
chr17:58208426	G G	A A	1	a0001c0001t0001g0099 a0001c0001t0001g0099	1	HG04228.hp2 HG04228.hp2	intron_variant	MODIFIER	c.1095+87C>T c.1095+87C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	12/17	chr17	58208426
chr17:58208978	G G	A A	1	a0002c0005t0001g0025 a0002c0005t0001g0025	2	HG02451.hp1 HG06807.hp1 HG02451.hp1 HG06807.hp1	intron_variant	MODIFIER	c.1025-395C>T c.1025-395C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	11/17	chr17	58208978
chr17:58209090	G G	A A	3	a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0010t0001g0044 a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0010t0001g0044	3	HG02965.hp1 HG03516.hp2 HG06807.hp2 HG02965.hp1 HG03516.hp2 HG06807.hp2	intron_variant	MODIFIER	c.1025-507C>T c.1025-507C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	11/17	chr17	58209090
chr17:58209124	T T	C C	1	a0001c0001t0006g0043 a0001c0001t0006g0043	2	HG02717.hp2 NA20300.hp1 HG02717.hp2 NA20300.hp1	intron_variant	MODIFIER	c.1025-541A>G c.1025-541A>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	11/17	chr17	58209124
chr17:58209214	G G	A A	3	a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0010t0001g0044 a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0010t0001g0044	3	HG02965.hp1 HG03516.hp2 HG06807.hp2 HG02965.hp1 HG03516.hp2 HG06807.hp2	intron_variant	MODIFIER	c.1025-631C>T c.1025-631C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	11/17	chr17	58209214
chr17:58209424	C C	T T	1	a0001c0001t0001g0094 a0001c0001t0001g0094	1	HG00609.hp2 HG00609.hp2	intron_variant	MODIFIER	c.1025-841G>A c.1025-841G>A	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	11/17	chr17	58209424
chr17:58209471	C C	T T	1	a0001c0001t0001g0082 a0001c0001t0001g0082	1	NA18946.hp2 NA18946.hp2	intron_variant	MODIFIER	c.1025-888G>A c.1025-888G>A	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	11/17	chr17	58209471
chr17:58209537	C C	T T	3	a0001c0001t0001g0015 a0001c0001t0001g0068 a0001c0001t0001g0072 a0001c0001t0001g0015 a0001c0001t0001g0068 a0001c0001t0001g0072	6	HG00639.hp1 HG01952.hp1 HG02451.hp2 others(3): Show HG00639.hp1 HG01952.hp1 HG02451.hp2 HG02976.hp1 HG03139.hp1 NA19030.hp1	intron_variant	MODIFIER	c.1025-954G>A c.1025-954G>A	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	11/17	chr17	58209537
chr17:58209750	G G	A A	5	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(2): Show a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0003g0009 a0001c0001t0003g0122	10	HG01884.hp2 HG01891.hp1 HG01891.hp2 others(7): Show HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02896.hp2 HG02970.hp1 HG03540.hp2 NA21309.hp1	intron_variant	MODIFIER	c.1024+909C>T c.1024+909C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	11/17	chr17	58209750
chr17:58210005	G G	A A	1	a0001c0001t0001g0113 a0001c0001t0001g0113	1	HG03927.hp1 HG03927.hp1	intron_variant	MODIFIER	c.1024+654C>T c.1024+654C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	11/17	chr17	58210005
chr17:58210010	A A	G G	1	a0001c0001t0002g0061 a0001c0001t0002g0061	1	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.1024+649T>C c.1024+649T>C	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	11/17	chr17	58210010
chr17:58210056	C C	T T	8	a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0026 others(5): Show a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0052	18	HG01168.hp2 HG01884.hp1 HG02055.hp2 others(15): Show HG01168.hp2 HG01884.hp1 HG02055.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02809.hp1 HG02886.hp1 HG03130.hp2 HG03209.hp2 HG03471.hp2 HG03579.hp2 NA18522.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp2	intron_variant	MODIFIER	c.1024+603G>A c.1024+603G>A	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	11/17	chr17	58210056
chr17:58210063	G G	C C	1	a0001c0001t0001g0120 a0001c0001t0001g0120	1	NA18944.hp2 NA18944.hp2	intron_variant	MODIFIER	c.1024+596C>G c.1024+596C>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	11/17	chr17	58210063
chr17:58210083	G G	C C	1	a0001c0001t0001g0114 a0001c0001t0001g0114	1	NA18952.hp1 NA18952.hp1	intron_variant	MODIFIER	c.1024+576C>G c.1024+576C>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	11/17	chr17	58210083
chr17:58210129	G G	A A	2	a0001c0001t0001g0041 a0001c0001t0001g0084 a0001c0001t0001g0041 a0001c0001t0001g0084	3	HG00673.hp1 HG02027.hp1 HG02071.hp2 HG00673.hp1 HG02027.hp1 HG02071.hp2	intron_variant	MODIFIER	c.1024+530C>T c.1024+530C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	11/17	chr17	58210129
chr17:58210248	A A	G G	3	a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0010t0001g0044 a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0010t0001g0044	3	HG02965.hp1 HG03516.hp2 HG06807.hp2 HG02965.hp1 HG03516.hp2 HG06807.hp2	intron_variant	MODIFIER	c.1024+411T>C c.1024+411T>C	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	11/17	chr17	58210248
chr17:58210255	G G	A A	8	a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0026 others(5): Show a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0052	18	HG01168.hp2 HG01884.hp1 HG02055.hp2 others(15): Show HG01168.hp2 HG01884.hp1 HG02055.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02809.hp1 HG02886.hp1 HG03130.hp2 HG03209.hp2 HG03471.hp2 HG03579.hp2 NA18522.hp1 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp2	intron_variant	MODIFIER	c.1024+404C>T c.1024+404C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	11/17	chr17	58210255
chr17:58210268	A A	T T	1	a0001c0001t0001g0029 a0001c0001t0001g0029	2	HG02818.hp2 NA19240.hp1 HG02818.hp2 NA19240.hp1	intron_variant	MODIFIER	c.1024+391T>A c.1024+391T>A	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	11/17	chr17	58210268
chr17:58210440	G G	A A	20	a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 others(17): Show a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0045 a0001c0001t0001g0066 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0003g0009 a0001c0001t0003g0122 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0052	43	HG01168.hp1 HG01168.hp2 HG01169.hp2 others(40): Show HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01255.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02055.hp2 HG02109.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02622.hp1 HG02717.hp1 HG02738.hp2 HG02809.hp1 HG02886.hp1 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03540.hp2 HG03579.hp2 HG03831.hp2 HG04199.hp1 NA18522.hp1 NA18522.hp2 NA19030.hp2 NA19043.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp1 NA21309.hp2	intron_variant	MODIFIER	c.1024+219C>T c.1024+219C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	11/17	chr17	58210440
chr17:58210531	G G	A A	16	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0013 others(13): Show a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0006t0002g0058 a0001c0008t0002g0060 a0007c0011t0002g0057	36	HG00280.hp2 HG00423.hp1 HG00597.hp1 others(33): Show HG00280.hp2 HG00423.hp1 HG00597.hp1 HG00642.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01358.hp1 HG02015.hp2 HG02056.hp2 HG02602.hp2 HG02735.hp2 HG02922.hp2 HG03490.hp1 HG04199.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18970.hp1 NA18972.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA19012.hp1 NA19054.hp2 NA19065.hp2 NA19066.hp2 NA19078.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.1024+128C>T c.1024+128C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	11/17	chr17	58210531
chr17:58210614	C C	G G	1	a0001c0001t0001g0110 a0001c0001t0001g0110	1	HG02132.hp2 HG02132.hp2	intron_variant	MODIFIER	c.1024+45G>C c.1024+45G>C	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	11/17	chr17	58210614
chr17:58210646	G G	C C	1	a0001c0001t0001g0045 a0001c0001t0001g0045	1	HG03453.hp1 HG03453.hp1	intron_variant	MODIFIER	c.1024+13C>G c.1024+13C>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	11/17	chr17	58210646
chr17:58210794	G G	A A	1	a0001c0001t0001g0100 a0001c0001t0001g0100	1	HG02080.hp1 HG02080.hp1	intron_variant	MODIFIER	c.959-70C>T c.959-70C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	10/17	chr17	58210794
chr17:58210854	A A	G G	1	a0001c0001t0001g0085 a0001c0001t0001g0085	1	HG02165.hp2 HG02165.hp2	intron_variant	MODIFIER	c.958+126T>C c.958+126T>C	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	10/17	chr17	58210854
chr17:58211257	T T	G G	1	a0001c0001t0001g0101 a0001c0001t0001g0101	1	HG02040.hp2 HG02040.hp2	intron_variant	MODIFIER	c.916-235A>C c.916-235A>C	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	9/17	chr17	58211257
chr17:58211665	C C	A A	1	a0001c0001t0001g0029 a0001c0001t0001g0029	2	HG02818.hp2 NA19240.hp1 HG02818.hp2 NA19240.hp1	intron_variant	MODIFIER	c.916-643G>T c.916-643G>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	9/17	chr17	58211665
chr17:58211729	A A	AT AT	76	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(73): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0069 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0002g0056 a0001c0001t0003g0009 a0001c0001t0004g0024 a0001c0001t0004g0096 a0001c0001t0005g0022 a0001c0001t0005g0103 a0001c0001t0007g0097 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0002c0005t0001g0025 a0003c0003t0001g0063 a0003c0003t0001g0065 a0005c0007t0001g0095 a0006c0009t0004g0111	211	HG00099.hp1 HG00280.hp1 HG00323.hp1 others(208): Show HG00099.hp1 HG00280.hp1 HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00741.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp2 HG01516.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02015.hp1 HG02027.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02071.hp1 HG02071.hp2 HG02080.hp1 HG02080.hp2 HG02109.hp2 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02723.hp1 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03688.hp2 HG03710.hp1 HG03831.hp1 HG03831.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04115.hp2 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18747.hp2 NA18939.hp1 NA18939.hp2 NA18944.hp1 NA18945.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18961.hp1 NA18961.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp2 NA18973.hp2 NA18978.hp1 NA18979.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18990.hp2 NA18993.hp2 NA18994.hp2 NA18997.hp1 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp1 NA19003.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp2 NA19012.hp2 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19054.hp1 NA19060.hp2 NA19063.hp1 NA19064.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19078.hp1 NA19081.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19085.hp1 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp2 NA20752.hp2 NA20805.hp1 NA21309.hp2	intron_variant	MODIFIER	c.915+648dupA c.915+648dupA	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	9/17	chr17	58211729
chr17:58211729	A A	ATT ATT	35	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0015 others(32): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0067 a0001c0001t0001g0072 a0001c0001t0001g0081 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0053 a0001c0001t0002g0055 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0003g0122 a0001c0001t0006g0043 a0001c0006t0002g0058 a0001c0008t0002g0060 a0004c0004t0001g0071 a0004c0004t0001g0073 a0007c0011t0002g0057	102	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(99): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01109.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02074.hp2 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02602.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03453.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03710.hp2 HG04184.hp1 HG04199.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18944.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18960.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19054.hp2 NA19060.hp1 NA19063.hp2 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19085.hp2 NA19089.hp1 NA19090.hp1 NA20300.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.915+647_915+648dup others(2): Show c.915+647_915+648dupAA	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	9/17	chr17	58211729
chr17:58211729	A A	ATTT ATTT	4	a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0002g0018 others(1): Show a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0002g0018 a0001c0001t0002g0054	6	HG01106.hp2 HG01109.hp2 HG01358.hp1 others(3): Show HG01106.hp2 HG01109.hp2 HG01358.hp1 NA18997.hp2 NA19030.hp1 NA20752.hp1	intron_variant	MODIFIER	c.915+646_915+648dup others(3): Show c.915+646_915+648dupAAA	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	9/17	chr17	58211729
chr17:58211895	A A	T T	1	a0001c0001t0001g0036 a0001c0001t0001g0036	2	HG01981.hp2 HG02004.hp2 HG01981.hp2 HG02004.hp2	intron_variant	MODIFIER	c.915+483T>A c.915+483T>A	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	9/17	chr17	58211895
chr17:58211915	C C	T T	1	a0001c0001t0001g0029 a0001c0001t0001g0029	2	HG02818.hp2 NA19240.hp1 HG02818.hp2 NA19240.hp1	intron_variant	MODIFIER	c.915+463G>A c.915+463G>A	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	9/17	chr17	58211915
chr17:58211949	T T	C C	33	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0015 others(30): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0006g0043 a0001c0006t0002g0058 a0001c0008t0002g0060 a0004c0004t0001g0071 a0004c0004t0001g0073 a0007c0011t0002g0057	101	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(98): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01358.hp1 HG01516.hp1 HG01517.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02257.hp1 HG02451.hp2 HG02602.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp2 HG02922.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG04184.hp1 HG04199.hp2 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18960.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18997.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19054.hp2 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19089.hp1 NA19090.hp1 NA19240.hp1 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.915+429A>G c.915+429A>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	9/17	chr17	58211949
chr17:58211950	G G	A A	1	a0001c0001t0002g0027 a0001c0001t0002g0027	2	NA18947.hp2 NA18970.hp1 NA18947.hp2 NA18970.hp1	intron_variant	MODIFIER	c.915+428C>T c.915+428C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	9/17	chr17	58211950
chr17:58212136	C C	A A	3	a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0010t0001g0044 a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0010t0001g0044	3	HG02965.hp1 HG03516.hp2 HG06807.hp2 HG02965.hp1 HG03516.hp2 HG06807.hp2	intron_variant	MODIFIER	c.915+242G>T c.915+242G>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	9/17	chr17	58212136
chr17:58212184	T T	C C	66	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0014 others(63): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0003g0009 a0001c0001t0003g0122 a0001c0001t0006g0043 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0006t0002g0058 a0001c0008t0002g0060 a0001c0010t0001g0044 a0002c0005t0001g0025 a0003c0003t0001g0063 a0003c0003t0001g0065 a0004c0004t0001g0071 a0004c0004t0001g0073 a0007c0011t0002g0057	165	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(162): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01358.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03831.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18954.hp2 NA18960.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18997.hp2 NA19000.hp1 NA19003.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19089.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.915+194A>G c.915+194A>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	9/17	chr17	58212184
chr17:58212274	A A	G G	1	a0001c0001t0001g0080 a0001c0001t0001g0080	1	NA20805.hp1 NA20805.hp1	intron_variant	MODIFIER	c.915+104T>C c.915+104T>C	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	9/17	chr17	58212274
chr17:58212356	TGCA TGCA	T T	16	a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0013 others(13): Show a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0006t0002g0058 a0001c0008t0002g0060 a0007c0011t0002g0057	36	HG00280.hp2 HG00423.hp1 HG00597.hp1 others(33): Show HG00280.hp2 HG00423.hp1 HG00597.hp1 HG00642.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01358.hp1 HG02015.hp2 HG02056.hp2 HG02602.hp2 HG02735.hp2 HG02922.hp2 HG03490.hp1 HG04199.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18970.hp1 NA18972.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA19012.hp1 NA19054.hp2 NA19065.hp2 NA19066.hp2 NA19078.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.915+19_915+21delTG others(1): Show c.915+19_915+21delTGC	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	9/17	chr17	58212356
chr17:58212550	A A	C C	1	a0001c0001t0001g0093 a0001c0001t0001g0093	1	HG03710.hp1 HG03710.hp1	intron_variant	MODIFIER	c.859-116T>G c.859-116T>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	8/17	chr17	58212550
chr17:58212590	C C	G G	7	a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0001g0038 others(4): Show a0001c0001t0001g0002 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0067 a0001c0001t0001g0070 a0004c0004t0001g0071 a0004c0004t0001g0073	35	HG01516.hp1 HG01517.hp1 HG01981.hp2 others(32): Show HG01516.hp1 HG01517.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02818.hp1 HG03098.hp2 HG03516.hp1 HG03540.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18948.hp1 NA18960.hp1 NA18973.hp1 NA18979.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18997.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19060.hp1 NA19064.hp1 NA19070.hp2 NA19081.hp2 NA19089.hp1 NA19090.hp1	intron_variant	MODIFIER	c.859-156G>C c.859-156G>C	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	8/17	chr17	58212590
chr17:58212892	C C	T T	5	a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0091 others(2): Show a0001c0001t0001g0016 a0001c0001t0001g0023 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0109	10	HG02486.hp1 HG02622.hp2 HG02896.hp1 others(7): Show HG02486.hp1 HG02622.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp1 HG03579.hp1	intron_variant	MODIFIER	c.858+90G>A c.858+90G>A	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	8/17	chr17	58212892
chr17:58212973	T T	C C	66	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0014 others(63): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0003g0009 a0001c0001t0003g0122 a0001c0001t0006g0043 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0006t0002g0058 a0001c0008t0002g0060 a0001c0010t0001g0044 a0002c0005t0001g0025 a0003c0003t0001g0063 a0003c0003t0001g0065 a0004c0004t0001g0071 a0004c0004t0001g0073 a0007c0011t0002g0057	165	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(162): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01358.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03831.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18954.hp2 NA18960.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18997.hp2 NA19000.hp1 NA19003.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19089.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.858+9A>G c.858+9A>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	8/17	chr17	58212973
chr17:58213184	T T	A A	1	a0004c0004t0001g0073 a0004c0004t0001g0073	1	NA18979.hp2 NA18979.hp2	intron_variant	MODIFIER	c.750-94A>T c.750-94A>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	7/17	chr17	58213184
chr17:58213195	A A	G G	66	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0014 others(63): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0045 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0003g0009 a0001c0001t0003g0122 a0001c0001t0006g0043 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0001c0006t0002g0058 a0001c0008t0002g0060 a0001c0010t0001g0044 a0002c0005t0001g0025 a0003c0003t0001g0063 a0003c0003t0001g0065 a0004c0004t0001g0071 a0004c0004t0001g0073 a0007c0011t0002g0057	165	HG00099.hp2 HG00280.hp2 HG00423.hp1 others(162): Show HG00099.hp2 HG00280.hp2 HG00423.hp1 HG00597.hp1 HG00639.hp1 HG00642.hp2 HG00741.hp1 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp1 HG01255.hp2 HG01358.hp1 HG01516.hp1 HG01517.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02602.hp2 HG02622.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03831.hp2 HG04184.hp1 HG04199.hp1 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18939.hp1 NA18940.hp2 NA18942.hp1 NA18942.hp2 NA18943.hp1 NA18943.hp2 NA18945.hp2 NA18947.hp2 NA18948.hp1 NA18954.hp2 NA18960.hp1 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18978.hp2 NA18979.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18997.hp2 NA19000.hp1 NA19003.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19012.hp1 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19054.hp2 NA19060.hp1 NA19063.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19089.hp1 NA19090.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.750-105T>C c.750-105T>C	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	7/17	chr17	58213195
chr17:58213393	T T	C C	1	a0001c0001t0005g0103 a0001c0001t0005g0103	1	NA19002.hp2 NA19002.hp2	intron_variant	MODIFIER	c.750-303A>G c.750-303A>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	7/17	chr17	58213393
chr17:58213733	A A	C C	1	a0001c0001t0001g0085 a0001c0001t0001g0085	1	HG02165.hp2 HG02165.hp2	intron_variant	MODIFIER	c.749+32T>G c.749+32T>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	7/17	chr17	58213733
chr17:58213752	T T	C C	1	a0001c0001t0001g0107 a0001c0001t0001g0107	1	HG03540.hp2 HG03540.hp2	intron_variant	MODIFIER	c.749+13A>G c.749+13A>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	7/17	chr17	58213752
chr17:58213920	C C	T T	2	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0105 a0001c0001t0001g0106	2	HG01891.hp2 NA21309.hp1 HG01891.hp2 NA21309.hp1	intron_variant	MODIFIER	c.645-51G>A c.645-51G>A	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	6/17	chr17	58213920
chr17:58214740	C C	T T	1	a0001c0001t0001g0090 a0001c0001t0001g0090	1	NA18997.hp1 NA18997.hp1	splice_donor_variant&intron_variant	HIGH	c.515+1G>A c.515+1G>A	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	5/17	chr17	58214740
chr17:58214866	G G	A A	1	a0001c0001t0001g0104 a0001c0001t0001g0104	1	HG04228.hp1 HG04228.hp1	intron_variant	MODIFIER	c.418-28C>T c.418-28C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	4/17	chr17	58214866
chr17:58215178	A A	C C	3	a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0010t0001g0044 a0001c0001t0001g0074 a0001c0001t0001g0089 a0001c0010t0001g0044	3	HG02965.hp1 HG03516.hp2 HG06807.hp2 HG02965.hp1 HG03516.hp2 HG06807.hp2	intron_variant	MODIFIER	c.418-340T>G c.418-340T>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	4/17	chr17	58215178
chr17:58215438	C C	T T	1	a0001c0001t0001g0079 a0001c0001t0001g0079	1	NA18957.hp2 NA18957.hp2	intron_variant	MODIFIER	c.418-600G>A c.418-600G>A	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	4/17	chr17	58215438
chr17:58215453	G G	A A	6	a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 others(3): Show a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0066 a0001c0001t0001g0116	14	HG01168.hp1 HG01169.hp2 HG01255.hp2 others(11): Show HG01168.hp1 HG01169.hp2 HG01255.hp2 HG02109.hp2 HG02622.hp1 HG02717.hp1 HG02738.hp2 HG02970.hp2 HG03130.hp1 HG03225.hp2 HG03486.hp1 HG03831.hp2 HG04199.hp1 NA18522.hp2	intron_variant	MODIFIER	c.418-615C>T c.418-615C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	4/17	chr17	58215453
chr17:58215604	G G	T T	5	a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 others(2): Show a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0003g0009 a0001c0001t0003g0122	10	HG01884.hp2 HG01891.hp1 HG01891.hp2 others(7): Show HG01884.hp2 HG01891.hp1 HG01891.hp2 HG02145.hp1 HG02257.hp2 HG02258.hp1 HG02896.hp2 HG02970.hp1 HG03540.hp2 NA21309.hp1	intron_variant	MODIFIER	c.417+484C>A c.417+484C>A	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	4/17	chr17	58215604
chr17:58216372	T T	C C	1	a0001c0001t0001g0029 a0001c0001t0001g0029	2	HG02818.hp2 NA19240.hp1 HG02818.hp2 NA19240.hp1	intron_variant	MODIFIER	c.262-129A>G c.262-129A>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	3/17	chr17	58216372
chr17:58216449	A A	C C	1	a0001c0001t0002g0055 a0001c0001t0002g0055	1	NA19054.hp2 NA19054.hp2	intron_variant	MODIFIER	c.262-206T>G c.262-206T>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	3/17	chr17	58216449
chr17:58216457	T T	C C	6	a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0085 others(3): Show a0001c0001t0001g0039 a0001c0001t0001g0042 a0001c0001t0001g0085 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121	8	HG00438.hp2 HG00558.hp1 HG02015.hp1 others(5): Show HG00438.hp2 HG00558.hp1 HG02015.hp1 HG02165.hp2 NA18944.hp2 NA18966.hp2 NA19007.hp2 NA19063.hp2	intron_variant	MODIFIER	c.261+209A>G c.261+209A>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	3/17	chr17	58216457
chr17:58216475	T T	C C	1	a0001c0001t0001g0078 a0001c0001t0001g0078	1	HG02155.hp1 HG02155.hp1	intron_variant	MODIFIER	c.261+191A>G c.261+191A>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	3/17	chr17	58216475
chr17:58216512	T T	A A	2	a0003c0003t0001g0063 a0003c0003t0001g0065 a0003c0003t0001g0063 a0003c0003t0001g0065	2	HG02630.hp2 HG02723.hp1 HG02630.hp2 HG02723.hp1	intron_variant	MODIFIER	c.261+154A>T c.261+154A>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	3/17	chr17	58216512
chr17:58216599	T T	C C	27	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0014 others(24): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0003g0009 a0001c0001t0003g0122 a0001c0001t0006g0043 a0004c0004t0001g0071 a0004c0004t0001g0073	87	HG00099.hp2 HG00639.hp1 HG00741.hp1 others(84): Show HG00099.hp2 HG00639.hp1 HG00741.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01168.hp1 HG01169.hp2 HG01255.hp2 HG01516.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02074.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02451.hp2 HG02622.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02818.hp1 HG02886.hp2 HG02896.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG03831.hp2 HG04184.hp1 HG04199.hp1 NA18522.hp2 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18948.hp1 NA18960.hp1 NA18973.hp1 NA18979.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18997.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19030.hp1 NA19060.hp1 NA19064.hp1 NA19070.hp2 NA19081.hp2 NA19089.hp1 NA19090.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2 NA21309.hp1	intron_variant	MODIFIER	c.261+67A>G c.261+67A>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	3/17	chr17	58216599
chr17:58216659	G G	A A	1	a0001c0001t0001g0064 a0001c0001t0001g0064	1	HG01243.hp1 HG01243.hp1	splice_region_variant&intron_variant	LOW	c.261+7C>T c.261+7C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	3/17	chr17	58216659
chr17:58216780	C C	T T	12	a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 others(9): Show a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052	28	HG01070.hp1 HG01071.hp2 HG01168.hp2 others(25): Show HG01070.hp1 HG01071.hp2 HG01168.hp2 HG01884.hp1 HG02055.hp2 HG02280.hp2 HG02293.hp2 HG02486.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03471.hp2 HG03579.hp2 NA18522.hp1 NA18939.hp1 NA18954.hp2 NA19000.hp1 NA19003.hp2 NA19030.hp2 NA19043.hp1 NA19063.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp2	intron_variant	MODIFIER	c.191-44G>A c.191-44G>A	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58216780
chr17:58216867	A A	C C	1	a0001c0001t0001g0040 a0001c0001t0001g0040	2	HG03491.hp2 HG03492.hp2 HG03491.hp2 HG03492.hp2	intron_variant	MODIFIER	c.191-131T>G c.191-131T>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58216867
chr17:58216984	C C	A A	1	a0001c0001t0001g0033 a0001c0001t0001g0033	2	HG04184.hp1 NA20905.hp1 HG04184.hp1 NA20905.hp1	intron_variant	MODIFIER	c.191-248G>T c.191-248G>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58216984
chr17:58217004	G G	C C	1	a0001c0002t0001g0049 a0001c0002t0001g0049	1	NA21309.hp2 NA21309.hp2	intron_variant	MODIFIER	c.191-268C>G c.191-268C>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58217004
chr17:58217109	C C	A A	1	a0001c0001t0001g0034 a0001c0001t0001g0034	2	HG02257.hp1 HG02723.hp2 HG02257.hp1 HG02723.hp2	intron_variant	MODIFIER	c.191-373G>T c.191-373G>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58217109
chr17:58217289	C C	T T	1	a0001c0001t0001g0078 a0001c0001t0001g0078	1	HG02155.hp1 HG02155.hp1	intron_variant	MODIFIER	c.191-553G>A c.191-553G>A	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58217289
chr17:58217315	G G	A A	1	a0001c0001t0001g0117 a0001c0001t0001g0117	1	HG01516.hp2 HG01516.hp2	intron_variant	MODIFIER	c.191-579C>T c.191-579C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58217315
chr17:58217547	G G	A A	5	a0001c0001t0002g0018 a0001c0001t0002g0028 a0001c0001t0002g0054 others(2): Show a0001c0001t0002g0018 a0001c0001t0002g0028 a0001c0001t0002g0054 a0001c0001t0002g0061 a0007c0011t0002g0057	8	HG00280.hp2 HG01099.hp2 HG01106.hp2 others(5): Show HG00280.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01358.hp1 HG02602.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.191-811C>T c.191-811C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58217547
chr17:58217559	A A	G G	1	a0001c0001t0001g0088 a0001c0001t0001g0088	1	HG02273.hp2 HG02273.hp2	intron_variant	MODIFIER	c.191-823T>C c.191-823T>C	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58217559
chr17:58217654	T T	A A	1	a0001c0001t0001g0116 a0001c0001t0001g0116	1	HG03225.hp2 HG03225.hp2	intron_variant	MODIFIER	c.191-918A>T c.191-918A>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58217654
chr17:58217694	A A	C C	1	a0001c0001t0001g0108 a0001c0001t0001g0108	1	HG02155.hp2 HG02155.hp2	intron_variant	MODIFIER	c.190+926T>G c.190+926T>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58217694
chr17:58217719	G G	A A	1	a0001c0001t0001g0107 a0001c0001t0001g0107	1	HG03540.hp2 HG03540.hp2	intron_variant	MODIFIER	c.190+901C>T c.190+901C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58217719
chr17:58217760	C C	T T	1	a0001c0001t0002g0054 a0001c0001t0002g0054	1	NA20752.hp1 NA20752.hp1	intron_variant	MODIFIER	c.190+860G>A c.190+860G>A	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58217760
chr17:58218064	C C	A A	2	a0001c0001t0001g0045 a0002c0005t0001g0025 a0001c0001t0001g0045 a0002c0005t0001g0025	3	HG02451.hp1 HG03453.hp1 HG06807.hp1 HG02451.hp1 HG03453.hp1 HG06807.hp1	intron_variant	MODIFIER	c.190+556G>T c.190+556G>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58218064
chr17:58218177	G G	A A	1	a0001c0001t0001g0086 a0001c0001t0001g0086	1	HG03654.hp1 HG03654.hp1	intron_variant	MODIFIER	c.190+443C>T c.190+443C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58218177
chr17:58218250	A A	C C	3	a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0077 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0077	7	HG01168.hp1 HG01169.hp2 HG01255.hp2 others(4): Show HG01168.hp1 HG01169.hp2 HG01255.hp2 HG02300.hp1 HG02738.hp2 HG03831.hp2 HG04199.hp1	intron_variant	MODIFIER	c.190+370T>G c.190+370T>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58218250
chr17:58218274	C C	T T	1	a0001c0001t0002g0053 a0001c0001t0002g0053	1	NA19065.hp2 NA19065.hp2	intron_variant	MODIFIER	c.190+346G>A c.190+346G>A	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58218274
chr17:58218340	C C	A A	17	a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0015 others(14): Show a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0006g0043 a0004c0004t0001g0071 a0004c0004t0001g0073	65	HG00099.hp2 HG00639.hp1 HG00741.hp1 others(62): Show HG00099.hp2 HG00639.hp1 HG00741.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01516.hp1 HG01517.hp1 HG01952.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02055.hp1 HG02074.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp1 HG02257.hp1 HG02451.hp2 HG02717.hp2 HG02723.hp2 HG02818.hp1 HG02886.hp2 HG02976.hp1 HG03041.hp1 HG03098.hp2 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp1 HG03654.hp2 HG04184.hp1 NA18940.hp2 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18948.hp1 NA18960.hp1 NA18973.hp1 NA18979.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19030.hp1 NA19060.hp1 NA19064.hp1 NA19070.hp2 NA19081.hp1 NA19081.hp2 NA19089.hp1 NA19090.hp1 NA20300.hp1 NA20905.hp1 NA20905.hp2	intron_variant	MODIFIER	c.190+280G>T c.190+280G>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58218340
chr17:58218362	C C	T T	1	a0001c0001t0001g0087 a0001c0001t0001g0087	1	NA19064.hp2 NA19064.hp2	intron_variant	MODIFIER	c.190+258G>A c.190+258G>A	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58218362
chr17:58218385	T T	A A	2	a0001c0001t0001g0032 a0001c0001t0001g0066 a0001c0001t0001g0032 a0001c0001t0001g0066	3	HG02622.hp1 HG02970.hp2 NA18522.hp2 HG02622.hp1 HG02970.hp2 NA18522.hp2	intron_variant	MODIFIER	c.190+235A>T c.190+235A>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58218385
chr17:58218447	C C	CA CA	16	a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0108 others(13): Show a0001c0001t0001g0003 a0001c0001t0001g0023 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0116 a0001c0001t0001g0118 a0001c0001t0003g0122 a0001c0001t0004g0024 a0001c0002t0001g0051 a0001c0002t0001g0052 a0006c0009t0004g0111	45	HG00423.hp2 HG01074.hp2 HG01169.hp1 others(42): Show HG00423.hp2 HG01074.hp2 HG01169.hp1 HG01884.hp1 HG02080.hp2 HG02132.hp1 HG02132.hp2 HG02155.hp2 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02300.hp2 HG02486.hp1 HG02630.hp1 HG02735.hp1 HG02738.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03688.hp1 HG03688.hp2 HG03831.hp1 HG03927.hp1 HG03927.hp2 NA18940.hp1 NA18952.hp1 NA18952.hp2 NA18966.hp1 NA18968.hp2 NA18972.hp2 NA18973.hp2 NA18978.hp1 NA18981.hp2 NA18982.hp2 NA18984.hp2 NA18990.hp2 NA18994.hp2 NA18998.hp1 NA19009.hp2 NA19043.hp2 NA19066.hp1 NA19078.hp1 NA20752.hp2	intron_variant	MODIFIER	c.190+172dupT c.190+172dupT	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58218447
chr17:58218447	C C	CAA CAA	6	a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0031 others(3): Show a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0031 a0001c0001t0001g0117 a0001c0001t0003g0009 a0001c0002t0001g0026	19	HG00741.hp2 HG01516.hp2 HG01884.hp2 others(16): Show HG00741.hp2 HG01516.hp2 HG01884.hp2 HG01891.hp1 HG02145.hp1 HG02258.hp1 HG02486.hp2 HG02622.hp2 HG02895.hp1 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02970.hp1 HG03471.hp1 HG03579.hp2 NA18979.hp1 NA19000.hp2 NA19006.hp2	intron_variant	MODIFIER	c.190+171_190+172dup others(2): Show c.190+171_190+172dupTT	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58218447
chr17:58218447	CA CA	C C	20	a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0039 others(17): Show a0001c0001t0001g0004 a0001c0001t0001g0019 a0001c0001t0001g0039 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0002t0001g0010 a0001c0002t0001g0012 a0001c0002t0001g0048 a0001c0002t0001g0049 a0002c0005t0001g0025	51	HG00280.hp1 HG00438.hp1 HG00438.hp2 others(48): Show HG00280.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00673.hp1 HG00673.hp2 HG01070.hp1 HG01071.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01358.hp2 HG01943.hp2 HG01952.hp2 HG02004.hp1 HG02015.hp1 HG02129.hp2 HG02135.hp2 HG02155.hp1 HG02165.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02809.hp1 HG03041.hp2 HG03098.hp1 HG03209.hp2 HG03654.hp1 HG04115.hp1 HG06807.hp1 NA18522.hp1 NA18944.hp2 NA18946.hp1 NA18946.hp2 NA18957.hp2 NA19000.hp1 NA19012.hp2 NA19043.hp1 NA19068.hp1 NA19068.hp2 NA19083.hp2 NA19085.hp1 NA19089.hp2 NA19240.hp2 NA20129.hp1 NA20805.hp1 NA21309.hp2	intron_variant	MODIFIER	c.190+172delT c.190+172delT	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58218447
chr17:58218447	CAA CAA	C C	5	a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0002t0001g0011 others(2): Show a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0002t0001g0011 a0001c0002t0001g0046 a0001c0002t0001g0047	8	HG01943.hp1 HG02280.hp2 HG03491.hp1 others(5): Show HG01943.hp1 HG02280.hp2 HG03491.hp1 NA18939.hp1 NA18954.hp2 NA19003.hp2 NA19063.hp1 NA20129.hp2	intron_variant	MODIFIER	c.190+171_190+172del others(2): Show c.190+171_190+172delTT	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58218447
chr17:58218447	CAAAA CAAAA	C C	6	a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0074 others(3): Show a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0074 a0001c0001t0002g0013 a0001c0010t0001g0044 a0003c0003t0001g0063	9	HG01243.hp1 HG02723.hp1 HG02965.hp1 others(6): Show HG01243.hp1 HG02723.hp1 HG02965.hp1 HG02976.hp2 HG06807.hp2 NA18972.hp1 NA18981.hp1 NA19082.hp1 NA20805.hp2	intron_variant	MODIFIER	c.190+169_190+172del others(4): Show c.190+169_190+172delTTTT	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58218447
chr17:58218447	CAAAAA CAAAAA	C C	6	a0001c0001t0001g0029 a0001c0001t0002g0007 a0001c0001t0002g0059 others(3): Show a0001c0001t0001g0029 a0001c0001t0002g0007 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0006t0002g0058 a0001c0008t0002g0060	13	HG00423.hp1 HG00597.hp1 HG00642.hp2 others(10): Show HG00423.hp1 HG00597.hp1 HG00642.hp2 HG02015.hp2 HG02735.hp2 HG02818.hp2 HG04199.hp2 NA18943.hp1 NA18978.hp2 NA19066.hp2 NA19078.hp2 NA19240.hp1 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.190+168_190+172del others(5): Show c.190+168_190+172delTTTTT	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58218447
chr17:58218447	CAAAAAA CAAAAAA	C C	9	a0001c0001t0002g0006 a0001c0001t0002g0018 a0001c0001t0002g0027 others(6): Show a0001c0001t0002g0006 a0001c0001t0002g0018 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0007c0011t0002g0057	19	HG00280.hp2 HG01074.hp1 HG01099.hp2 others(16): Show HG00280.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01358.hp1 HG02602.hp2 HG02922.hp2 NA18942.hp2 NA18947.hp2 NA18970.hp1 NA18982.hp1 NA18984.hp1 NA19012.hp1 NA19054.hp2 NA19065.hp2 NA19083.hp1 NA19085.hp2 NA20752.hp1	intron_variant	MODIFIER	c.190+167_190+172del others(6): Show c.190+167_190+172delTTTTTT	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58218447
chr17:58218447	CAAAAAAA others(4): Show CAAAAAAAAAAA	C C	1	a0001c0001t0001g0066 a0001c0001t0001g0066	1	HG02622.hp1 HG02622.hp1	intron_variant	MODIFIER	c.190+162_190+172del others(11): Show c.190+162_190+172delTTTTTTTTTTT	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58218447
chr17:58218447	CAAAAAAA others(5): Show CAAAAAAAAAAAA	C C	2	a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0014 a0001c0001t0001g0032	6	HG02109.hp2 HG02717.hp1 HG02970.hp2 others(3): Show HG02109.hp2 HG02717.hp1 HG02970.hp2 HG03130.hp1 HG03486.hp1 NA18522.hp2	intron_variant	MODIFIER	c.190+161_190+172del others(12): Show c.190+161_190+172delTTTTTTTTTTTT	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58218447
chr17:58218447	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	C C	1	a0001c0001t0001g0038 a0001c0001t0001g0038	2	HG02109.hp1 NA18940.hp2 HG02109.hp1 NA18940.hp2	intron_variant	MODIFIER	c.190+160_190+172del others(13): Show c.190+160_190+172delTTTTTTTTTTTTT	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58218447
chr17:58218447	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	9	a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0036 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0006g0043 a0004c0004t0001g0071 a0004c0004t0001g0073	39	HG00639.hp1 HG01106.hp1 HG01517.hp1 others(36): Show HG00639.hp1 HG01106.hp1 HG01517.hp1 HG01981.hp2 HG02004.hp2 HG02027.hp2 HG02040.hp1 HG02074.hp1 HG02129.hp1 HG02135.hp1 HG02717.hp2 HG02818.hp1 HG03098.hp2 HG03516.hp1 HG03540.hp1 NA18942.hp1 NA18943.hp2 NA18945.hp2 NA18948.hp1 NA18960.hp1 NA18973.hp1 NA18979.hp2 NA18990.hp1 NA18993.hp1 NA18994.hp1 NA18997.hp2 NA18998.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19060.hp1 NA19064.hp1 NA19070.hp2 NA19081.hp1 NA19081.hp2 NA19089.hp1 NA19090.hp1 NA20300.hp1 NA20905.hp2	intron_variant	MODIFIER	c.190+159_190+172del others(14): Show c.190+159_190+172delTTTTTTTTTTTTTT	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58218447
chr17:58218447	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	C C	7	a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0033 others(4): Show a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069	24	HG00099.hp2 HG00741.hp1 HG01099.hp1 others(21): Show HG00099.hp2 HG00741.hp1 HG01099.hp1 HG01109.hp1 HG01516.hp1 HG01952.hp1 HG01978.hp2 HG02055.hp1 HG02257.hp1 HG02451.hp2 HG02723.hp2 HG02886.hp2 HG02976.hp1 HG03041.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 HG03486.hp2 HG03490.hp2 HG03492.hp1 HG03654.hp2 HG04184.hp1 NA19030.hp1 NA20905.hp1	intron_variant	MODIFIER	c.190+158_190+172del others(15): Show c.190+158_190+172delTTTTTTTTTTTTTTT	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58218447
chr17:58218447	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	C C	1	a0001c0001t0001g0045 a0001c0001t0001g0045	1	HG03453.hp1 HG03453.hp1	intron_variant	MODIFIER	c.190+157_190+172del others(16): Show c.190+157_190+172delTTTTTTTTTTTTTTTT	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58218447
chr17:58218535	T T	C C	3	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121	3	HG00438.hp2 NA18944.hp2 NA19063.hp2 HG00438.hp2 NA18944.hp2 NA19063.hp2	intron_variant	MODIFIER	c.190+85A>G c.190+85A>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	2/17	chr17	58218535
chr17:58218769	A A	C C	3	a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0066 a0001c0001t0001g0014 a0001c0001t0001g0032 a0001c0001t0001g0066	7	HG02109.hp2 HG02622.hp1 HG02717.hp1 others(4): Show HG02109.hp2 HG02622.hp1 HG02717.hp1 HG02970.hp2 HG03130.hp1 HG03486.hp1 NA18522.hp2	intron_variant	MODIFIER	c.81-40T>G c.81-40T>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	1/17	chr17	58218769
chr17:58218875	C C	G G	23	a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0062 others(20): Show a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0013 a0001c0001t0002g0018 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0055 a0001c0001t0002g0056 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0006t0002g0058 a0001c0008t0002g0060 a0001c0010t0001g0044 a0003c0003t0001g0063 a0003c0003t0001g0065 a0007c0011t0002g0057	45	HG00280.hp2 HG00423.hp1 HG00597.hp1 others(42): Show HG00280.hp2 HG00423.hp1 HG00597.hp1 HG00642.hp2 HG01074.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01243.hp1 HG01358.hp1 HG02015.hp2 HG02056.hp2 HG02602.hp2 HG02630.hp2 HG02723.hp1 HG02735.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03490.hp1 HG04199.hp2 NA18942.hp2 NA18943.hp1 NA18947.hp2 NA18970.hp1 NA18972.hp1 NA18978.hp2 NA18981.hp1 NA18982.hp1 NA18984.hp1 NA19012.hp1 NA19054.hp2 NA19065.hp2 NA19066.hp2 NA19078.hp2 NA19082.hp1 NA19083.hp1 NA19085.hp2 NA19240.hp1 NA20752.hp1 NA20805.hp2 homoSapiens_chm13v2.hp1	intron_variant	MODIFIER	c.81-146G>C c.81-146G>C	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	1/17	chr17	58218875
chr17:58218889	G G	A A	1	a0001c0001t0001g0118 a0001c0001t0001g0118	1	NA18982.hp2 NA18982.hp2	intron_variant	MODIFIER	c.81-160C>T c.81-160C>T	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	1/17	chr17	58218889
chr17:58219007	G G	T T	14	a0001c0001t0001g0045 a0001c0002t0001g0008 a0001c0002t0001g0010 others(11): Show a0001c0001t0001g0045 a0001c0002t0001g0008 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0012 a0001c0002t0001g0026 a0001c0002t0001g0046 a0001c0002t0001g0047 a0001c0002t0001g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0052 a0002c0005t0001g0025	31	HG01070.hp1 HG01071.hp2 HG01168.hp2 others(28): Show HG01070.hp1 HG01071.hp2 HG01168.hp2 HG01884.hp1 HG02055.hp2 HG02280.hp2 HG02293.hp2 HG02451.hp1 HG02486.hp2 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03579.hp2 HG06807.hp1 NA18522.hp1 NA18939.hp1 NA18954.hp2 NA19000.hp1 NA19003.hp2 NA19030.hp2 NA19043.hp1 NA19063.hp1 NA19240.hp2 NA20129.hp2 NA21309.hp2	intron_variant	MODIFIER	c.80+144C>A c.80+144C>A	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	1/17	chr17	58219007
chr17:58219018	G G	C C	3	a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121	3	HG00438.hp2 NA18944.hp2 NA19063.hp2 HG00438.hp2 NA18944.hp2 NA19063.hp2	intron_variant	MODIFIER	c.80+133C>G c.80+133C>G	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	1/17	chr17	58219018
chr17:58219087	C C	T T	1	a0001c0010t0001g0044 a0001c0010t0001g0044	1	HG02965.hp1 HG02965.hp1	intron_variant	MODIFIER	c.80+64G>A c.80+64G>A	MKS1	ENSG00000011143.19	transcript	ENST00000393119.7	protein_coding	1/17	chr17	58219087

Search by Gene

Search

🧬 JoGo Online Haplotype Explorer MKS1_chr17_58200441_58224255

JoGo Local Haplotype Explorer (on iGV) MKS1_chr17_58200441_58224255

🧬 Gene Summary

Translation Multiple Alignment View

LD View

AAmino acid (protein) Level Haplotype Info (Total: 7)

CCoding Level Haplotype Info (Total: 11)

TTranscript Level Haplotype Info (Total: 7)

GGenebody Level Haplotype Info (Total: 122)

A C AC Level (Amino Acid + Coding) Haplotype Info (Total: 11)

A C T ACT Level (Amino Acid + Coding + Transcript) Haplotype Info (Total: 17)

A C T G ACTG Level (Amino Acid + Coding + Transcript + Genebody) Haplotype Info (Total: 122)

Haplotype Details by Sample (Haploid Level) (Total: 326)

AAmino acid (protein) Level Variants (Effect to Protein Coding Variants) (Total: 6)

CCoding Level Variants (Synonymous Mutations) (Total: 4)

TTranscript Level Variants (5'UTR+3'UTR) (Total: 7)

GGenebody Level Haplotype Variants (Intron) (Total: 112)

Genealogies

External Link

Annotation (Repeats)

Annotation (SNP Array)