STRIDE-DB

Repeat Length	AFR	AMR	EUR	EAS	SAS	Repeat
2.0	0	0	2	0	2	CGGGGCGGGG
6.8	2	2	0	0	0	CGGGGCGGGGCGCGGGGCGGGGCGCGGGGCGGGG
4.4	66	50	56	96	108	CGGGGCGGGGCGCGGGGCGGGG

Position	Disease/Trait	P-value	SNPs	Location with respect to STR	distance	Study
21:45153706	Breast cancer,	2.0E-6	rs142471995	downstream	-42621	Association analysis identifies 65 new breast cancer risk loci.
21:45181446	Systolic blood pressure change trajectory,	7.0E-7	rs762407	downstream	-14881	Genome-wide association of trajectories of systolic blood pressure change.
21:45181446	Systolic blood pressure change trajectory,	1.0E-6	rs762407	downstream	-14881	Genome-wide association of trajectories of systolic blood pressure change.
21:45192107	Homocysteine levels,	2.0E-11	rs147242481	downstream	-4220	Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits.
21:45201832	Blood protein levels,	7.0E-15	rs35285321	upstream	5505	The relative contribution of DNA methylation and genetic variants on protein biomarkers for human diseases.
21:45201832	Cystatin-B levels,	0	rs35285321	upstream	5505	Genomic and drug target evaluation of 90 cardiovascular proteins in 30,931 individuals.
21:45201832	Blood protein levels in cardiovascular risk,	8.0E-57	rs35285321	upstream	5505	Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease.
21:45201832	Cystatin B plasma levels,	4.0E-22	rs35285321	upstream	5505	Integrative genetic and immune cell analysis of plasma proteins in healthy donors identifies novel associations involving primary immune deficiency genes.
21:45206355	Blood protein levels,	2.0E-41	rs1041456	upstream	10028	Common Genetic Polymorphisms Influence Blood Biomarker Measurements in COPD.
21:45214635	Serum levels of protein PDXK,	1.0E-14	rs74925444	upstream	18308	A genome-wide association study of serum proteins reveals shared loci with common diseases.

Flanking region : 5 kb 10 kb 50 kb

Position	HGVS	dbSNP id	Phenotype List	Distance	Clinvar Significance
21:45153751	GRCh37/hg19 21q22.3(chr21:45153751-45161432)x1	NA	not provided	-42576	Benign
21:45153751	NM_003681.5(PDXK):c.88-199A>G	NA	not provided	-42576	Benign
21:45154144	NM_003681.5(PDXK):c.142+140C>T	NA	not provided	-42183	Benign
21:45154175	NM_003681.5(PDXK):c.142+171_142+172del	NA	not provided	-42152	Benign
21:45157062	NM_003681.5(PDXK):c.142+3058C>T	NA	not provided	-39265	Likely benign
21:45157128	GRCh37/hg19 21q22.3(chr21:45157128-45161432)x1	NA	not provided	-39199	Benign
21:45159733	GRCh37/hg19 21q22.3(chr21:45159733-45161432)x1	NA	not provided	-36594	Benign
21:45159838	GRCh37/hg19 21q22.3(chr21:45159838-45170285)x1	NA	not provided	-36489	Benign
21:45161346	NM_003681.5(PDXK):c.143-202G>A	NA	not provided	-34981	Benign
21:45161432	NM_003681.5(PDXK):c.143-116A>G	NA	not provided	-34895	Benign
21:45161630	NM_003681.5(PDXK):c.225T>A (p.Asn75Lys)	rs1601814238	Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy	-34697	Likely pathogenic
21:45161850	NM_003681.5(PDXK):c.247+198T>C	NA	not provided	-34477	Benign
21:45163714	NM_003681.5(PDXK):c.331+26T>G	NA	Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy	-32613	Benign
21:45163766	NM_003681.5(PDXK):c.331+78G>A	NA	not provided	-32561	Benign
21:45163867	NM_003681.5(PDXK):c.331+179G>T	NA	not provided	-32460	Benign
21:45165766	GRCh38/hg38 21q22.3(chr21:45165766-45411930)x3	NA	See cases	-30561	Likely benign
21:45166002	NM_003681.5(PDXK):c.374C>T (p.Ser125Leu)	rs77734576	not provided	-30325	Likely benign
21:45168709	NM_003681.5(PDXK):c.379-167T>C	NA	not provided	-27618	Benign
21:45168884	NM_003681.5(PDXK):c.387G>A (p.Pro129=)	NA	not provided\|Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy	-27443	Benign
21:45168914	NM_003681.5(PDXK):c.417A>G (p.Lys139_Val140=)	NA	not provided	-27413	Likely benign
21:45169005	NM_003681.5(PDXK):c.464+44A>G	NA	not provided	-27322	Benign
21:45170285	NM_003681.5(PDXK):c.465-96A>G	NA	not provided	-26042	Benign
21:45170580	NM_003681.5(PDXK):c.510+154A>G	NA	not provided	-25747	Benign
21:45170614	NM_003681.5(PDXK):c.510+189TG[9]	NA	not provided	-25713	Benign
21:45172379	NM_003681.5(PDXK):c.511-20G>A	NA	not provided	-23948	Benign
21:45172628	NM_003681.5(PDXK):c.622+118G>A	NA	not provided	-23699	Benign
21:45173231	NM_003681.5(PDXK):c.623-233C>A	NA	not provided	-23096	Benign
21:45173472	NM_003681.5(PDXK):c.631G>A (p.Ala211Thr)	NA	not provided	-22855	Uncertain significance
21:45173480	NM_003681.5(PDXK):c.639C>T (p.Ser213=)	NA	not provided	-22847	Benign
21:45173500	NM_003681.5(PDXK):c.659G>A (p.Arg220Gln)	rs759333796	Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy	-22827	Pathogenic
21:45173523	NM_003681.5(PDXK):c.682G>A (p.Ala228Thr)	rs757480516	Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy	-22804	Pathogenic
21:45173705	NM_003681.5(PDXK):c.759+105T>C	NA	not provided	-22622	Benign
21:45175370	NM_003681.5(PDXK):c.760-209G>A	NA	not provided	-20957	Benign
21:45175571	NM_003681.5(PDXK):c.760-8C>A	NA	not provided	-20756	Benign
21:45175958	NM_003681.5(PDXK):c.*14T>C	NA	not provided\|Neuropathy, hereditary motor and sensory, type VIc, with optic atrophy	-20369	Benign
21:45192546	NC_000021.9:g.(?_43772665)_(43777375_?)dup	NA	Progressive myoclonic epilepsy	-3781	Uncertain significance
21:45193648	NM_000100.3(CSTB):c.*435G>A	rs149039598	Unverricht-Lundborg syndrome	-2679	Uncertain significance
21:45193728	NM_000100.3(CSTB):c.*355C>G	rs143062585	Unverricht-Lundborg syndrome	-2599	Uncertain significance
21:45193749	NM_000100.3(CSTB):c.*334G>A	rs533969154	Unverricht-Lundborg syndrome	-2578	Uncertain significance
21:45193758	NM_000100.3(CSTB):c.*325A>G	rs28691645	Unverricht-Lundborg syndrome\|not provided	-2569	Benign
21:45193764	NM_000100.3(CSTB):c.*319G>A	rs536069557	Unverricht-Lundborg syndrome	-2563	Uncertain significance
21:45193782	NM_000100.3(CSTB):c.*301G>A	rs886057111	Unverricht-Lundborg syndrome	-2545	Uncertain significance
21:45193783	Single allele	NA	not provided	-2544	Likely benign
21:45193796	NM_000100.3(CSTB):c.*287G>A	rs768173714	Unverricht-Lundborg syndrome	-2531	Uncertain significance
21:45193801	Single allele	NA	not provided	-2526	Likely benign
21:45193856	NM_000100.4(CSTB):c.*227A>G	rs886057112	Unverricht-Lundborg syndrome	-2471	Uncertain significance
21:45193874	NM_000100.4(CSTB):c.*209A>T	rs1466237377	Unverricht-Lundborg syndrome	-2453	Uncertain significance
21:45193990	NM_000100.4(CSTB):c.*93A>G	rs9446	Unverricht-Lundborg syndrome	-2337	Likely benign
21:45194009	NM_000100.4(CSTB):c.*74T>C	rs6385	Unverricht-Lundborg syndrome\|not provided	-2318	Benign
21:45194014	NM_000100.4(CSTB):c.*69A>G	rs142767585	Unverricht-Lundborg syndrome\|not provided	-2313	Likely benign
21:45194063	NC_000021.8:g.(?_45194063)_(45196170_?)dup	NA	Progressive myoclonic epilepsy	-2264	Uncertain significance
21:45194064	NM_000100.4(CSTB):c.*19C>T	NA	not provided	-2263	Likely benign
21:45194076	NM_000100.4(CSTB):c.*7C>G	rs201576714	not specified	-2251	Benign/Likely benign
21:45194083	NC_000021.8:g.(?_45194083)_(45196150_?)del	NA	Progressive myoclonic epilepsy	-2244	Pathogenic
21:45194085	NM_000100.4(CSTB):c.295T>C (p.Ter99Arg)	NA	Progressive myoclonic epilepsy	-2242	Uncertain significance
21:45194086	NM_000100.4(CSTB):c.294C>T (p.Phe98=)	NA	Progressive myoclonic epilepsy	-2241	Likely benign
21:45194090	NM_000100.4(CSTB):c.290A>G (p.Tyr97Cys)	rs1186810947	Progressive myoclonic epilepsy	-2237	Uncertain significance
21:45194106	NM_000100.4(CSTB):c.274C>T (p.His92Tyr)	rs796052393	not provided\|Progressive myoclonic epilepsy	-2221	Uncertain significance
21:45194106	NM_000100.4(CSTB):c.274C>T (p.His92Tyr)	rs796052393	not provided\|Progressive myoclonic epilepsy	-2221	Uncertain significance
21:45194107	NM_000100.4(CSTB):c.273G>A (p.Lys91=)	NA	Progressive myoclonic epilepsy	-2220	Likely benign
21:45194111	NM_000100.4(CSTB):c.269C>G (p.Ala90Gly)	rs138337167	Progressive myoclonic epilepsy	-2216	Uncertain significance
21:45194112	NM_000100.4(CSTB):c.268G>A (p.Ala90Thr)	rs761504637	not provided\|Progressive myoclonic epilepsy	-2215	Uncertain significance
21:45194116	NM_000100.4(CSTB):c.264C>T (p.Asn88=)	NA	Progressive myoclonic epilepsy	-2211	Likely benign
21:45194126	NM_000100.4(CSTB):c.251_254del (p.Asn84fs)	rs1555888363	not provided	-2201	Uncertain significance
21:45194134	NM_000100.4(CSTB):c.246A>G (p.Leu82=)	NA	Progressive myoclonic epilepsy	-2193	Likely benign
21:45194137	NM_000100.4(CSTB):c.243C>T (p.Thr81=)	NA	Progressive myoclonic epilepsy	-2190	Likely benign
21:45194145	NM_000100.4(CSTB):c.235C>T (p.Pro79Ser)	NA	Progressive myoclonic epilepsy	-2182	Uncertain significance
21:45194148	NM_000100.4(CSTB):c.232A>C (p.Lys78Gln)	rs2083999131	Progressive myoclonic epilepsy	-2179	Uncertain significance
21:45194156	NM_000100.4(CSTB):c.224A>G (p.His75Arg)	NA	not provided	-2171	Uncertain significance
21:45194159	NM_000100.4(CSTB):c.221C>T (p.Pro74Leu)	rs753004113	Progressive myoclonic epilepsy	-2168	Uncertain significance
21:45194161	NM_000100.4(CSTB):c.218_219del (p.Leu73fs)	rs796943858	Unverricht-Lundborg syndrome\|not provided\|Inborn genetic diseases\|Progressive myoclonic epilepsy	-2166	Pathogenic/Likely pathogenic
21:45194161	NM_000100.4(CSTB):c.218_219del (p.Leu73fs)	rs796943858	Unverricht-Lundborg syndrome\|not provided\|Inborn genetic diseases\|Progressive myoclonic epilepsy	-2166	Pathogenic/Likely pathogenic
21:45194166	NM_000100.4(CSTB):c.214T>C (p.Ser72Pro)	rs796052392	not provided\|Progressive myoclonic epilepsy	-2161	Uncertain significance
21:45194166	NM_000100.4(CSTB):c.214T>C (p.Ser72Pro)	rs796052392	not provided\|Progressive myoclonic epilepsy	-2161	Uncertain significance
21:45194167	NM_000100.4(CSTB):c.213A>G (p.Gln71=)	rs758639236	not provided\|Progressive myoclonic epilepsy	-2160	Likely benign
21:45194168	NM_000100.4(CSTB):c.212A>C (p.Gln71Pro)	rs121909346	Unverricht-Lundborg syndrome	-2159	Pathogenic
21:45194168	NM_000100.4(CSTB):c.212A>C (p.Gln71Pro)	rs121909346	Unverricht-Lundborg syndrome	-2159	Pathogenic
21:45194176	NM_000100.4(CSTB):c.200_203dup (p.Val69fs)	rs1601855887	Progressive myoclonic epilepsy	-2151	Pathogenic
21:45194177	NM_000100.4(CSTB):c.203G>C (p.Arg68Pro)	rs757707761	Progressive myoclonic epilepsy	-2150	Uncertain significance
21:45194178	NM_000100.4(CSTB):c.202C>T (p.Arg68Ter)	rs74315442	Unverricht-Lundborg syndrome\|8 conditions\|Childhood epilepsy with centrotemporal spikes\|Progressive myoclonic epilepsy	-2149	Pathogenic
21:45194178	NM_000100.4(CSTB):c.202C>T (p.Arg68Ter)	rs74315442	Unverricht-Lundborg syndrome\|8 conditions\|Childhood epilepsy with centrotemporal spikes\|Progressive myoclonic epilepsy	-2149	Pathogenic
21:45194179	NM_000100.4(CSTB):c.201G>A (p.Leu67=)	NA	Progressive myoclonic epilepsy	-2148	Likely benign
21:45194184	NM_000100.4(CSTB):c.196C>T (p.His66Tyr)	NA	Progressive myoclonic epilepsy	-2143	Uncertain significance
21:45194187	NM_000100.4(CSTB):c.193G>A (p.Val65Ile)	rs570768038	not specified\|Progressive myoclonic epilepsy\|Unverricht-Lundborg syndrome	-2140	Conflicting interpretations of pathogenicity
21:45194187	NM_000100.4(CSTB):c.193G>A (p.Val65Ile)	rs570768038	not specified\|Progressive myoclonic epilepsy\|Unverricht-Lundborg syndrome	-2140	Conflicting interpretations of pathogenicity
21:45194187	NM_000100.4(CSTB):c.193G>C (p.Val65Leu)	rs570768038	Progressive myoclonic epilepsy	-2140	Uncertain significance
21:45194188	NM_000100.4(CSTB):c.192C>T (p.Phe64=)	NA	Progressive myoclonic epilepsy	-2139	Likely benign
21:45194189	NM_000100.4(CSTB):c.191T>G (p.Phe64Cys)	rs1569005540	Progressive myoclonic epilepsy	-2138	Uncertain significance
21:45194196	NM_000100.4(CSTB):c.184G>A (p.Glu62Lys)	NA	Progressive myoclonic epilepsy	-2131	Uncertain significance
21:45194197	NM_000100.4(CSTB):c.183C>T (p.Asp61=)	rs772899788	Progressive myoclonic epilepsy\|not provided	-2130	Likely benign
21:45194200	NM_000100.4(CSTB):c.180C>T (p.Gly60=)	rs771027631	not specified\|Progressive myoclonic epilepsy	-2127	Conflicting interpretations of pathogenicity
21:45194202	NM_000100.4(CSTB):c.178G>A (p.Gly60Ser)	NA	not provided	-2125	Uncertain significance
21:45194203	NM_000100.4(CSTB):c.177C>T (p.Val59=)	NA	Progressive myoclonic epilepsy	-2124	Likely benign
21:45194205	NM_000100.4(CSTB):c.175G>A (p.Val59Ile)	rs531685360	Progressive myoclonic epilepsy	-2122	Uncertain significance
21:45194206	NM_000100.4(CSTB):c.174C>T (p.His58=)	rs763095750	not specified\|Progressive myoclonic epilepsy	-2121	Likely benign
21:45194208	NM_000100.4(CSTB):c.172C>T (p.His58Tyr)	rs2083999686	Progressive myoclonic epilepsy	-2119	Uncertain significance
21:45194211	NM_000100.4(CSTB):c.169G>A (p.Val57Met)	rs796052394	not provided\|Progressive myoclonic epilepsy	-2116	Uncertain significance
21:45194211	NM_000100.4(CSTB):c.169G>A (p.Val57Met)	rs796052394	not provided\|Progressive myoclonic epilepsy	-2116	Uncertain significance
21:45194211	NM_000100.4(CSTB):c.169G>T (p.Val57Leu)	rs796052394	Unverricht-Lundborg syndrome\|Progressive myoclonic epilepsy	-2116	Uncertain significance
21:45194213	NM_000100.4(CSTB):c.169-2A>G	rs386833441	Unverricht-Lundborg syndrome	-2114	Pathogenic/Likely pathogenic
21:45194213	NM_000100.4(CSTB):c.169-2A>G	rs386833441	Unverricht-Lundborg syndrome	-2114	Pathogenic/Likely pathogenic
21:45194216	NM_000100.4(CSTB):c.169-5C>G	rs764309689	Seizure	-2111	Uncertain significance
21:45194221	NM_000100.4(CSTB):c.169-10C>G	NA	Progressive myoclonic epilepsy	-2106	Likely benign
21:45194225	NM_000100.4(CSTB):c.169-14C>T	rs757593576	Unverricht-Lundborg syndrome	-2102	Uncertain significance
21:45194486	NM_000100.4(CSTB):c.168+53C>T	NA	not provided	-1841	Likely benign
21:45194518	NM_000100.4(CSTB):c.168+2_168+21delinsAA	rs864309482	Unverricht-Lundborg syndrome	-1809	Pathogenic
21:45194518	NM_000100.4(CSTB):c.168+2_168+21delinsAA	rs864309482	Unverricht-Lundborg syndrome	-1809	Pathogenic
21:45194520	NM_000100.4(CSTB):c.168+2_168+19del	rs312262707	Unverricht-Lundborg syndrome	-1807	Pathogenic
21:45194520	NM_000100.4(CSTB):c.168+2_168+19del	rs312262707	Unverricht-Lundborg syndrome	-1807	Pathogenic
21:45194526	NM_000100.4(CSTB):c.168+13C>T	NA	Progressive myoclonic epilepsy	-1801	Likely benign
21:45194531	NM_000100.4(CSTB):c.168+8G>A	NA	Progressive myoclonic epilepsy	-1796	Likely benign
21:45194539	NM_000100.4(CSTB):c.168G>A (p.Lys56=)	rs386833440	Unverricht-Lundborg syndrome	-1788	Pathogenic/Likely pathogenic
21:45194539	NM_000100.4(CSTB):c.168G>A (p.Lys56=)	rs386833440	Unverricht-Lundborg syndrome	-1788	Pathogenic/Likely pathogenic
21:45194540	NM_000100.4(CSTB):c.167A>G (p.Lys56Arg)	rs935774172	not specified\|Progressive myoclonic epilepsy\|not provided	-1787	Uncertain significance
21:45194547	NM_000100.4(CSTB):c.160T>G (p.Phe54Val)	NA	Progressive myoclonic epilepsy	-1780	Uncertain significance
21:45194549	NM_000100.4(CSTB):c.158A>G (p.Tyr53Cys)	rs762082236	Progressive myoclonic epilepsy\|Unverricht-Lundborg syndrome	-1778	Uncertain significance
21:45194552	NM_000100.4(CSTB):c.155A>T (p.Asn52Ile)	rs541671661	not provided\|Progressive myoclonic epilepsy	-1775	Uncertain significance
21:45194552	NM_000100.4(CSTB):c.155A>T (p.Asn52Ile)	rs541671661	not provided\|Progressive myoclonic epilepsy	-1775	Uncertain significance
21:45194558	NM_000100.4(CSTB):c.149G>A (p.Gly50Glu)	rs312262708	Unverricht-Lundborg syndrome	-1769	Pathogenic
21:45194558	NM_000100.4(CSTB):c.149G>A (p.Gly50Glu)	rs312262708	Unverricht-Lundborg syndrome	-1769	Pathogenic
21:45194560	NM_000100.4(CSTB):c.147G>A (p.Ala49=)	NA	Progressive myoclonic epilepsy	-1767	Likely benign
21:45194561	NM_000100.4(CSTB):c.146C>T (p.Ala49Val)	rs754421704	not provided	-1766	Uncertain significance
21:45194561	NM_000100.4(CSTB):c.146C>T (p.Ala49Val)	rs754421704	not provided	-1766	Uncertain significance
21:45194561	NM_000100.4(CSTB):c.146C>A (p.Ala49Glu)	NA	Progressive myoclonic epilepsy	-1766	Uncertain significance
21:45194562	NM_000100.4(CSTB):c.145G>A (p.Ala49Thr)	rs559906825	Progressive myoclonic epilepsy	-1765	Uncertain significance
21:45194567	NM_000100.4(CSTB):c.140T>G (p.Val47Gly)	rs2084001744	Progressive myoclonic epilepsy	-1760	Uncertain significance
21:45194568	NM_000100.4(CSTB):c.139G>C (p.Val47Leu)	rs140799752	Progressive myoclonic epilepsy	-1759	Uncertain significance
21:45194571	NM_000100.4(CSTB):c.136C>T (p.Gln46Ter)	rs545986367	not provided\|Unverricht-Lundborg syndrome\|Inborn genetic diseases\|Progressive myoclonic epilepsy	-1756	Pathogenic/Likely pathogenic
21:45194571	NM_000100.4(CSTB):c.136C>T (p.Gln46Ter)	rs545986367	not provided\|Unverricht-Lundborg syndrome\|Inborn genetic diseases\|Progressive myoclonic epilepsy	-1756	Pathogenic/Likely pathogenic
21:45194572	NM_000100.4(CSTB):c.135C>T (p.Ser45=)	NA	Progressive myoclonic epilepsy	-1755	Likely benign
21:45194582	NM_000100.4(CSTB):c.125C>A (p.Ser42Ter)	rs386833439	Unverricht-Lundborg syndrome	-1745	Pathogenic/Likely pathogenic
21:45194582	NM_000100.4(CSTB):c.125C>A (p.Ser42Ter)	rs386833439	Unverricht-Lundborg syndrome	-1745	Pathogenic/Likely pathogenic
21:45194586	NM_000100.4(CSTB):c.121G>A (p.Val41Met)	rs143153487	not provided\|not specified\|Unverricht-Lundborg syndrome\|Progressive myoclonic epilepsy	-1741	Conflicting interpretations of pathogenicity
21:45194586	NM_000100.4(CSTB):c.121G>A (p.Val41Met)	rs143153487	not provided\|not specified\|Unverricht-Lundborg syndrome\|Progressive myoclonic epilepsy	-1741	Conflicting interpretations of pathogenicity
21:45194586	NM_000100.4(CSTB):c.121del (p.Val41fs)	NA	Progressive myoclonic epilepsy	-1741	Pathogenic
21:45194587	NM_000100.4(CSTB):c.120C>T (p.Ala40=)	rs368198839	Progressive myoclonic epilepsy	-1740	Likely benign
21:45194594	NM_000100.4(CSTB):c.113T>A (p.Phe38Tyr)	rs1365612504	Progressive myoclonic epilepsy	-1733	Uncertain significance
21:45194601	NM_000100.4(CSTB):c.106C>T (p.Pro36Ser)	rs748162136	Progressive myoclonic epilepsy	-1726	Uncertain significance
21:45194607	NM_000100.4(CSTB):c.100A>G (p.Lys34Glu)	rs2084002121	Progressive myoclonic epilepsy	-1720	Uncertain significance
21:45194609	NM_000100.4(CSTB):c.96_98del (p.Asn32del)	NA	Progressive myoclonic epilepsy	-1718	Uncertain significance
21:45194611	NM_000100.4(CSTB):c.96C>T (p.Asn32=)	rs1436155713	Seizure\|Progressive myoclonic epilepsy	-1716	Likely benign
21:45194622	NM_000100.4(CSTB):c.85G>A (p.Glu29Lys)	rs1358304104	Progressive myoclonic epilepsy	-1705	Uncertain significance
21:45194641	NM_000100.4(CSTB):c.67-1G>C	rs147484110	Unverricht-Lundborg syndrome\|not provided\|Inborn genetic diseases\|Progressive myoclonic epilepsy\|Dyskinesia;Chorea\|Encephalopathy;Microcephaly;Cerebral dysmyelination	-1686	Conflicting interpretations of pathogenicity
21:45194641	NM_000100.4(CSTB):c.67-1G>C	rs147484110	Unverricht-Lundborg syndrome\|not provided\|Inborn genetic diseases\|Progressive myoclonic epilepsy\|Dyskinesia;Chorea\|Encephalopathy;Microcephaly;Cerebral dysmyelination	-1686	Conflicting interpretations of pathogenicity
21:45194643	NM_000100.4(CSTB):c.67-3T>C	rs6383	not specified\|Unverricht-Lundborg syndrome\|Progressive myoclonic epilepsy\|Seizure	-1684	Benign/Likely benign
21:45194643	NM_000100.4(CSTB):c.67-3T>C	rs6383	not specified\|Unverricht-Lundborg syndrome\|Progressive myoclonic epilepsy\|Seizure	-1684	Benign/Likely benign
21:45194644	NM_000100.4(CSTB):c.67-4C>G	rs2084002305	Progressive myoclonic epilepsy\|not provided	-1683	Uncertain significance
21:45194650	NM_000100.4(CSTB):c.67-10T>G	NA	Progressive myoclonic epilepsy	-1677	Likely benign
21:45194652	NM_000100.4(CSTB):c.67-12C>T	NA	not provided	-1675	Likely benign
21:45194790	NM_000100.4(CSTB):c.67-150G>A	rs6381	not provided	-1537	Benign
21:45194808	NM_000100.4(CSTB):c.67-175dup	rs201742249	not provided	-1519	Likely benign
21:45194964	NM_000100.4(CSTB):c.67-324G>A	NA	not provided	-1363	Likely benign
21:45195916	NM_000100.4(CSTB):c.66+169A>T	NA	not provided	-411	Likely benign
21:45195977	NM_000100.4(CSTB):c.66+108T>C	rs6370	not provided	-350	Likely benign
21:45195996	NM_000100.4(CSTB):c.66+89T>C	rs6369	not provided	-331	Benign
21:45196065	NM_000100.4(CSTB):c.66+20G>C	NA	Progressive myoclonic epilepsy	-262	Likely benign
21:45196085	NM_000100.4(CSTB):c.66G>A (p.Gln22=)	rs386833443	Unverricht-Lundborg syndrome	-242	Pathogenic/Likely pathogenic
21:45196085	NM_000100.4(CSTB):c.66G>A (p.Gln22=)	rs386833443	Unverricht-Lundborg syndrome	-242	Pathogenic/Likely pathogenic
21:45196087	NM_000100.4(CSTB):c.64C>T (p.Gln22Ter)	rs1569006250	Progressive myoclonic epilepsy\|Unverricht-Lundborg syndrome	-240	Pathogenic
21:45196096	NM_000100.4(CSTB):c.55A>G (p.Ile19Val)	rs1349028244	Progressive myoclonic epilepsy	-231	Uncertain significance
21:45196097	NM_000100.4(CSTB):c.54C>T (p.His18=)	rs557717323	not specified\|Progressive myoclonic epilepsy	-230	Benign/Likely benign
21:45196097	NM_000100.4(CSTB):c.54C>T (p.His18=)	rs557717323	not specified\|Progressive myoclonic epilepsy	-230	Benign/Likely benign
21:45196104	NM_000100.4(CSTB):c.47C>T (p.Thr16Ile)	rs2084009370	Progressive myoclonic epilepsy	-223	Uncertain significance
21:45196106	NM_000100.4(CSTB):c.45G>A (p.Glu15=)	rs1057521317	Progressive myoclonic epilepsy\|Unverricht-Lundborg syndrome\|not provided	-221	Conflicting interpretations of pathogenicity
21:45196108	NM_000100.4(CSTB):c.43G>T (p.Glu15Ter)	rs11553836	not provided	-219	Likely pathogenic
21:45196109	NM_000100.4(CSTB):c.42C>G (p.Ala14=)	NA	Progressive myoclonic epilepsy	-218	Likely benign
21:45196112	NM_000100.4(CSTB):c.39C>G (p.Thr13=)	NA	Progressive myoclonic epilepsy	-215	Likely benign
21:45196115	NM_000100.4(CSTB):c.36C>T (p.Ala12=)	NA	not provided	-212	Uncertain significance
21:45196118	NM_000100.4(CSTB):c.33G>A (p.Pro11=)	NA	Progressive myoclonic epilepsy	-209	Likely benign
21:45196120	NM_000100.4(CSTB):c.31C>T (p.Pro11Ser)	rs2084009509	Progressive myoclonic epilepsy	-207	Uncertain significance
21:45196122	NM_000100.4(CSTB):c.29A>C (p.Gln10Pro)	rs569851503	Progressive myoclonic epilepsy\|not provided	-205	Uncertain significance
21:45196122	NM_000100.4(CSTB):c.29A>C (p.Gln10Pro)	rs569851503	Progressive myoclonic epilepsy\|not provided	-205	Uncertain significance
21:45196123	NM_000100.4(CSTB):c.28C>G (p.Gln10Glu)	rs1399970116	Progressive myoclonic epilepsy	-204	Uncertain significance
21:45196124	NM_000100.4(CSTB):c.27G>C (p.Thr9=)	rs945357152	Progressive myoclonic epilepsy	-203	Likely benign
21:45196125	NM_000100.4(CSTB):c.26C>T (p.Thr9Met)	rs778785343	Progressive myoclonic epilepsy	-202	Uncertain significance
21:45196125	NM_000100.4(CSTB):c.26C>A (p.Thr9Lys)	NA	Progressive myoclonic epilepsy	-202	Uncertain significance
21:45196130	NM_000100.4(CSTB):c.21C>A (p.Ser7=)	rs748254497	Progressive myoclonic epilepsy	-197	Uncertain significance
21:45196135	NM_000100.4(CSTB):c.16C>G (p.Pro6Ala)	NA	Progressive myoclonic epilepsy	-192	Uncertain significance
21:45196136	NM_000100.4(CSTB):c.15G>T (p.Ala5=)	rs4533	not specified\|Progressive myoclonic epilepsy\|Unverricht-Lundborg syndrome\|Seizure	-191	Benign/Likely benign
21:45196136	NM_000100.4(CSTB):c.15G>T (p.Ala5=)	rs4533	not specified\|Progressive myoclonic epilepsy\|Unverricht-Lundborg syndrome\|Seizure	-191	Benign/Likely benign
21:45196138	NM_000100.4(CSTB):c.13del (p.Ala5fs)	rs1555888493	not provided	-189	Likely pathogenic
21:45196139	NM_000100.4(CSTB):c.12G>A (p.Gly4=)	rs1555888494	Progressive myoclonic epilepsy	-188	Likely benign
21:45196141	NM_000100.4(CSTB):c.10G>C (p.Gly4Arg)	rs74315443	Unverricht-Lundborg syndrome	-186	Pathogenic
21:45196141	NM_000100.4(CSTB):c.10G>C (p.Gly4Arg)	rs74315443	Unverricht-Lundborg syndrome	-186	Pathogenic
21:45196141	NM_000100.4(CSTB):c.10G>T (p.Gly4Trp)	rs74315443	Unverricht-Lundborg syndrome	-186	Likely pathogenic
21:45196142	NM_000100.4(CSTB):c.9C>T (p.Cys3=)	rs555930471	Unverricht-Lundborg syndrome\|Progressive myoclonic epilepsy	-185	Conflicting interpretations of pathogenicity
21:45196142	NM_000100.4(CSTB):c.9C>G (p.Cys3Trp)	NA	Progressive myoclonic epilepsy	-185	Uncertain significance
21:45196149	NM_000100.4(CSTB):c.1_2insAT (p.Met1fs)	rs1044894207	not provided\|Progressive myoclonic epilepsy	-178	Conflicting interpretations of pathogenicity
21:45196162	NM_000100.4(CSTB):c.-12G>A	rs779920568	not specified\|Unverricht-Lundborg syndrome	-165	Conflicting interpretations of pathogenicity
21:45196163	NM_000100.4(CSTB):c.-13C>G	rs770995817	not specified	-164	Likely benign
21:45196163	NM_000100.4(CSTB):c.-13C>G	rs770995817	not specified	-164	Likely benign
21:45196174	NM_000100.2(CSTB):c.-36_-24delGAGTCCCCTCGCC	rs577227536	not specified	-153	Benign
21:45196174	NM_000100.2(CSTB):c.-36_-24delGAGTCCCCTCGCC	rs577227536	not specified	-153	Benign
21:45196180	NM_000100.4(CSTB):c.-30C>T	rs1388604204	not specified	-147	Likely benign
21:45196186	NM_000100.2(CSTB):c.-48_-36delCGTCCCCTCGCCG	rs780277053	not provided	-141	Likely benign
21:45196192	NM_000100.3(CSTB):c.-42C>T	rs776181852	Unverricht-Lundborg syndrome\|not specified\|not provided	-135	Conflicting interpretations of pathogenicity
21:45196193	NM_000100.3(CSTB):c.-43C>G	rs886057113	Unverricht-Lundborg syndrome	-134	Uncertain significance
21:45196197	NM_000100.2(CSTB):c.-47G>T	rs574162390	not specified	-130	Likely benign
21:45196200	NM_000100.2(CSTB):c.-50C>T	rs553395747	not specified	-127	Likely benign
21:45196200	NM_000100.2(CSTB):c.-50C>G	rs553395747	not specified	-127	Likely benign
21:45196204	NM_000100.3(CSTB):c.-54C>T	rs59649299	Unverricht-Lundborg syndrome\|not provided	-123	Benign
21:45196205	NM_000100.3(CSTB):c.-55G>A	rs533879406	Unverricht-Lundborg syndrome	-122	Uncertain significance
21:45196274	Single allele	NA	not provided	-53	Likely benign
21:45196324	Single allele	NA	not provided	-3	Benign
21:45196349	NG_011545.1(CSTB):g.4900_4935CCCCGCCCCGCG[(30_125)]	NA	Unverricht-Lundborg syndrome	22	Pathogenic
21:45196349	NG_011545.1(CSTB):g.4900_4935CCCCGCCCCGCG[(30_125)]	NA	Unverricht-Lundborg syndrome	22	Pathogenic
21:45196360	NM_000100.3(CSTB):c.-210CCCCGCCCCGCG[(2_3)]	NA	Unverricht-Lundborg syndrome	33	Pathogenic
21:45196360	NM_000100.3(CSTB):c.-210CCCCGCCCCGCG[(2_3)]	NA	Unverricht-Lundborg syndrome	33	Pathogenic
21:45196362	Single allele	NA	not provided	35	Benign
21:45196372	Single allele	NA	not provided	45	Likely benign
21:45196388	Single allele	NA	not provided	61	Likely benign
21:45204571	NM_001112.4(ADARB1):c.1582A>G (p.Ile528Val)	rs146201109	not specified\|not provided	8244	Conflicting interpretations of pathogenicity
21:45209591	NM_003683.6(RRP1):c.81G>A (p.Arg27=)	rs759119620	not provided	13264	Likely benign
21:45213190	NM_003683.6(RRP1):c.275-10C>T	rs184838512	not provided	16863	Benign
21:45213265	NM_003683.6(RRP1):c.340C>T (p.Arg114Cys)	rs763767114	Ductal breast carcinoma	16938	Uncertain significance
21:45213265	NM_003683.6(RRP1):c.340C>T (p.Arg114Cys)	rs763767114	Ductal breast carcinoma	16938	Uncertain significance
21:45217423	NM_003683.6(RRP1):c.543C>T (p.Gly181=)	rs142644786	not provided	21096	Likely benign
21:45217973	NM_003683.6(RRP1):c.803C>T (p.Pro268Leu)	rs58028593	not provided	21646	Benign
21:45219455	NM_003683.6(RRP1):c.816C>T (p.Ser272=)	rs144068997	not provided	23128	Benign
21:45223383	NM_003683.6(RRP1):c.1124-10G>C	rs75229405	not provided	27056	Benign

Position	Type	Class	Distance	Location with respect to STR
21:45194823-45195119	AluSz	SINE	-1504	downstream
21:45196859-45197169	AluY	SINE	532	upstream
21:45197169-45197466	AluSg	SINE	842	upstream
21:45197466-45197751	AluJb	SINE	1139	upstream
21:45197751-45197879	AluJo	SINE	1424	upstream

Position	Population	BlockLength (kb)	Distance	Location with respect to STR	No. of SNPs	SNPs in the Haploblock
21:45147564-45148527	all_pop	0.964	-48763	downstream	3	rs11089094, rs2299805, rs383165,
21:45149025-45149205	AFR	0.181	-47302	downstream	4	rs6518317, rs73373276, rs6518318, rs11529248,
21:45149025-45149133	all_pop	0.109	-47302	downstream	3	rs6518317, rs73373276, rs651831,
21:45149025-45149133	EUR	0.109	-47302	downstream	3	rs6518317, rs73373276, rs651831,
21:45149089-45149518	AMR	0.43	-47238	downstream	3	rs73373276, rs6518318, rs283835,
21:45149518-45152500	all_pop	2.983	-46809	downstream	8	rs2838357, rs73373282, rs2838358, rs4819305, rs766242, rs766241, rs9974754, rs227652,
21:45149922-45153079	AFR	3.158	-46405	downstream	11	rs77626381, rs59339575, rs8129390, rs73373282, rs2838358, rs4819305, rs766241, rs9974754, rs2276528, rs9975611, rs227652,
21:45151046-45153079	AMR	2.034	-45281	downstream	6	rs2838358, rs766242, rs9974754, rs2276528, rs9975611, rs227652,
21:45151046-45153079	EUR	2.034	-45281	downstream	6	rs2838358, rs766242, rs9974754, rs2276528, rs9975611, rs227652,
21:45152880-45153079	all_pop	0.2	-43447	downstream	2	rs9975611, rs227652,
21:45153330-45153751	AFR	0.422	-42997	downstream	2	rs76139610, rs1305030,
21:45153751-45155876	all_pop	2.126	-42576	downstream	4	rs13050307, rs2299806, rs3216365, rs998507,
21:45153751-45155876	AMR	2.126	-42576	downstream	4	rs13050307, rs2299806, rs3216365, rs998507,
21:45153751-45155876	EUR	2.126	-42576	downstream	4	rs13050307, rs2299806, rs3216365, rs998507,
21:45154144-45155876	AFR	1.733	-42183	downstream	3	rs2299806, rs3216365, rs998507,
21:45157128-45158689	all_pop	1.562	-39199	downstream	3	rs73373294, rs9981955, rs998481,
21:45157128-45160099	EUR	2.972	-39199	downstream	6	rs73373294, rs112089509, rs9981955, rs9984818, rs57983053, rs229980,
21:45157128-45160099	SAS	2.972	-39199	downstream	8	rs73373294, rs112089509, rs9981955, rs9984818, rs149648969, rs146175819, rs57983053, rs229980,
21:45158544-45159998	AFR	1.455	-37783	downstream	3	rs9981955, rs9984818, rs5798305,
21:45158544-45160231	AMR	1.688	-37783	downstream	6	rs9981955, rs9984818, rs57983053, rs146467610, rs2299807, rs229980,
21:45158544-45159123	EAS	0.58	-37783	downstream	4	rs9981955, rs9984818, rs149648969, rs14617581,
21:45159998-45160099	all_pop	0.102	-36329	downstream	2	rs57983053, rs229980,
21:45161322-45161335	EAS	0.014	-35005	downstream	2	rs377475538, rs18953874,
21:45161339-45161351	AFR	0.013	-34988	downstream	3	rs112060928, rs76459079, rs11767483,
21:45161339-45161351	all_pop	0.013	-34988	downstream	3	rs112060928, rs76459079, rs11767483,
21:45161339-45161351	EUR	0.013	-34988	downstream	2	rs112060928, rs11767483,
21:45161339-45161351	SAS	0.013	-34988	downstream	2	rs112060928, rs11767483,
21:45161351-45165225	AMR	3.875	-34976	downstream	6	rs117674831, rs80267445, rs150747429, rs74373568, rs4594536, rs14348316,
21:45161914-45163867	all_pop	1.954	-34413	downstream	2	rs80267445, rs7437356,
21:45161914-45165225	SAS	3.312	-34413	downstream	4	rs80267445, rs74373568, rs4594536, rs14348316,
21:45161926-45164854	AFR	2.929	-34401	downstream	8	rs115035978, rs11910056, rs114638141, rs74425417, rs116705896, rs73375218, rs74373568, rs459453,
21:45163867-45165225	EUR	1.359	-32460	downstream	3	rs74373568, rs4594536, rs14348316,
21:45164854-45165300	all_pop	0.447	-31473	downstream	3	rs4594536, rs143483161, rs11218530,
21:45164854-45165225	EAS	0.372	-31473	downstream	2	rs4594536, rs14348316,
21:45165225-45165300	AFR	0.076	-31102	downstream	2	rs143483161, rs11218530,
21:45165300-45166979	AMR	1.68	-31027	downstream	2	rs112185301, rs481930,
21:45165300-45170614	EAS	5.315	-31027	downstream	8	rs112185301, rs4819306, rs11539534, rs9974827, rs11701801, rs1076843, rs1106797, rs304223,
21:45165372-45166979	AFR	1.608	-30955	downstream	2	rs55951339, rs481930,
21:45167517-45168016	AFR	0.5	-28810	downstream	2	rs73908378, rs6129932,
21:45167517-45168709	AMR	1.193	-28810	downstream	2	rs73908378, rs11359775,

Conservation score was not calculated