JoGo: Joint Open Genome and Omics Platform

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	hgvs_c	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	chr	external
AGPAT3_chr21_43860223_43992592	43981167	T T	C C	missense_variant missense_variant	MODERATE	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0010 a0002c0006t0010	a0002c0006t0010g0112 a0002c0006t0010g0112	1	342	0.0029	c.102 others(4): Show c.1022T>C	p.Phe others(6): Show p.Phe341Ser	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	9/10	1256/6565	1022/1131	341/376	chr21	TogoVar
AGPAT3_chr21_43860223_43992592	43981170	T T	G G	missense_variant missense_variant	MODERATE	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0010 a0002c0006t0010	a0002c0006t0010g0112 a0002c0006t0010g0112	1	342	0.0029	c.102 others(4): Show c.1025T>G	p.Leu others(6): Show p.Leu342Trp	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	9/10	1259/6565	1025/1131	342/376	chr21	TogoVar
AGPAT3_chr21_43860223_43992592	43981185	C C	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01884.hp1 HG01884.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0010 a0002c0006t0010	a0002c0006t0010g0112 a0002c0006t0010g0112	1	342	0.0029	c.104 others(4): Show c.1040C>A	p.Ala others(6): Show p.Ala347Glu	AGPAT3	ENSG00000160216.21	transcript	ENST00000291572.13	protein_coding	9/10	1274/6565	1040/1131	347/376	chr21	TogoVar
AGPAT5_chr8_6703642_6766503	6708766	G G	C C	missense_variant missense_variant	MODERATE	HG01106.hp2 HG02055.hp2 HG03490.hp2 others(1): Show HG01106.hp2 HG02055.hp2 HG03490.hp2 HG03492.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0003 a0002c0004t0003	a0002c0004t0003g0025 a0002c0004t0003g0026 a0002c0004t0003g0025 a0002c0004t0003g0026	4	404	0.0099	c.98G others(2): Show c.98G>C	p.Gly others(5): Show p.Gly33Ala	AGPAT5	ENSG00000155189.12	transcript	ENST00000285518.11	protein_coding	1/8	125/5237	98/1095	33/364	chr8	TogoVar
AGPAT5_chr8_6703642_6766503	6730761	C C	A A	missense_variant missense_variant	MODERATE	HG03704.hp1 HG03704.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0193 a0004c0007t0001g0193	1	404	0.0025	c.340 others(3): Show c.340C>A	p.His others(6): Show p.His114Asn	AGPAT5	ENSG00000155189.12	transcript	ENST00000285518.11	protein_coding	3/8	367/5237	340/1095	114/364	chr8	TogoVar
AGPAT5_chr8_6703642_6766503	6757164	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG00280.hp2 HG00280.hp2	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0185 a0003c0009t0001g0185	1	404	0.0025	c.871 others(3): Show c.871A>G	p.Met others(6): Show p.Met291Val	AGPAT5	ENSG00000155189.12	transcript	ENST00000285518.11	protein_coding	8/8	898/5237	871/1095	291/364	chr8	TogoVar
AGR3_chr7_16854412_16886983	16861425	A A	G G	missense_variant missense_variant	MODERATE	HG02735.hp1 HG02735.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0086 a0004c0005t0001g0086	1	458	0.0022	c.326 others(3): Show c.326T>C	p.Leu others(6): Show p.Leu109Ser	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	6/8	393/738	326/501	109/166	chr7	TogoVar
AGR3_chr7_16854412_16886983	16861985	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18953.hp1 NA19001.hp2 NA18953.hp1 NA19001.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0174 a0002c0003t0001g0175 a0002c0003t0001g0174 a0002c0003t0001g0175	2	458	0.0044	c.302 others(3): Show c.302T>C	p.Met others(6): Show p.Met101Thr	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	5/8	369/738	302/501	101/166	chr7	TogoVar
AGR3_chr7_16854412_16886983	16878596	C C	T T	missense_variant missense_variant	MODERATE	HG03831.hp2 HG03831.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0271 a0003c0004t0002g0271	1	458	0.0022	c.23G others(2): Show c.23G>A	p.Gly others(4): Show p.Gly8Asp	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	2/8	90/738	23/501	8/166	chr7	TogoVar
AGRN_chr1_1015120_1061116	1020183	G G	C C	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02723.hp2 HG02976.hp2 others(1): Show HG02258.hp2 HG02723.hp2 HG02976.hp2 HG03139.hp1	a0008 a0013 a0008 a0013	a0008c0009 a0013c0029 a0008c0009 a0013c0029	a0008c0009t0004 a0013c0029t0013 a0008c0009t0004 a0013c0029t0013	a0008c0009t0004g0197 a0008c0009t0004g0198 a0008c0009t0004g0199 others(1): Show a0008c0009t0004g0197 a0008c0009t0004g0198 a0008c0009t0004g0199 a0013c0029t0013g0200	4	210	0.0191	c.11G others(2): Show c.11G>C	p.Arg others(4): Show p.Arg4Pro	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	1/36	64/7326	11/6138	4/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1020239	G G	C C	missense_variant missense_variant	MODERATE	HG01074.hp1 HG02735.hp2 HG03239.hp1 others(1): Show HG01074.hp1 HG02735.hp2 HG03239.hp1 HG04228.hp2	a0006 a0006	a0006c0010 a0006c0030 a0006c0010 a0006c0030	a0006c0010t0007 a0006c0030t0001 a0006c0010t0007 a0006c0030t0001	a0006c0010t0007g0057 a0006c0010t0007g0059 a0006c0010t0007g0060 others(1): Show a0006c0010t0007g0057 a0006c0010t0007g0059 a0006c0010t0007g0060 a0006c0030t0001g0058	4	210	0.0191	c.67G others(2): Show c.67G>C	p.Val others(5): Show p.Val23Leu	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	1/36	120/7326	67/6138	23/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1041197	T T	C C	missense_variant missense_variant	MODERATE	HG02922.hp2 HG02922.hp2	a0014 a0014	a0014c0058 a0014c0058	a0014c0058t0008 a0014c0058t0008	a0014c0058t0008g0195 a0014c0058t0008g0195	1	210	0.0048	c.752 others(3): Show c.752T>C	p.Val others(6): Show p.Val251Ala	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	5/36	805/7326	752/6138	251/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1041218	C C	T T	missense_variant missense_variant	MODERATE	HG00408.hp1 HG02080.hp2 HG02135.hp1 others(2): Show HG00408.hp1 HG02080.hp2 HG02135.hp1 NA18967.hp1 NA18998.hp2	a0005 a0005	a0005c0003 a0005c0003	a0005c0003t0002 a0005c0003t0002	a0005c0003t0002g0012 a0005c0003t0002g0026 a0005c0003t0002g0027 others(2): Show a0005c0003t0002g0012 a0005c0003t0002g0026 a0005c0003t0002g0027 a0005c0003t0002g0077 a0005c0003t0002g0147	5	210	0.0238	c.773 others(3): Show c.773C>T	p.Thr others(6): Show p.Thr258Ile	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	5/36	826/7326	773/6138	258/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1041245	C C	T T	missense_variant missense_variant	MODERATE	NA18906.hp2 NA18906.hp2	a0015 a0015	a0015c0054 a0015c0054	a0015c0054t0020 a0015c0054t0020	a0015c0054t0020g0039 a0015c0054t0020g0039	1	210	0.0048	c.800 others(3): Show c.800C>T	p.Thr others(6): Show p.Thr267Met	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	5/36	853/7326	800/6138	267/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1041505	C C	A A	missense_variant missense_variant	MODERATE	NA18966.hp2 NA18966.hp2	a0032 a0032	a0032c0031 a0032c0031	a0032c0031t0001 a0032c0031t0001	a0032c0031t0001g0120 a0032c0031t0001g0120	1	210	0.0048	c.980 others(3): Show c.980C>A	p.Pro others(6): Show p.Pro327Gln	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	6/36	1033/7326	980/6138	327/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1041583	A A	G G	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02723.hp2 HG02976.hp2 others(1): Show HG02258.hp2 HG02723.hp2 HG02976.hp2 HG03139.hp1	a0008 a0013 a0008 a0013	a0008c0009 a0013c0029 a0008c0009 a0013c0029	a0008c0009t0004 a0013c0029t0013 a0008c0009t0004 a0013c0029t0013	a0008c0009t0004g0197 a0008c0009t0004g0198 a0008c0009t0004g0199 others(1): Show a0008c0009t0004g0197 a0008c0009t0004g0198 a0008c0009t0004g0199 a0013c0029t0013g0200	4	210	0.0191	c.105 others(4): Show c.1058A>G	p.Gln others(6): Show p.Gln353Arg	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	6/36	1111/7326	1058/6138	353/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1042004	G G	A A	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02257.hp2	a0016 a0016	a0016c0032 a0016c0032	a0016c0032t0003 a0016c0032t0003	a0016c0032t0003g0044 a0016c0032t0003g0044	1	210	0.0048	c.122 others(4): Show c.1226G>A	p.Arg others(6): Show p.Arg409His	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	7/36	1279/7326	1226/6138	409/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1042010	G G	A A	missense_variant missense_variant	MODERATE	NA18967.hp2 NA18967.hp2	a0017 a0017	a0017c0033 a0017c0033	a0017c0033t0001 a0017c0033t0001	a0017c0033t0001g0105 a0017c0033t0001g0105	1	210	0.0048	c.123 others(4): Show c.1232G>A	p.Arg others(6): Show p.Arg411His	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	7/36	1285/7326	1232/6138	411/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1042060	G G	A A	missense_variant missense_variant	MODERATE	HG04184.hp2 HG04184.hp2	a0018 a0018	a0018c0034 a0018c0034	a0018c0034t0005 a0018c0034t0005	a0018c0034t0005g0091 a0018c0034t0005g0091	1	210	0.0048	c.128 others(4): Show c.1282G>A	p.Val others(6): Show p.Val428Met	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	7/36	1335/7326	1282/6138	428/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1045751	A A	G G	missense_variant missense_variant	MODERATE	HG00408.hp1 HG01884.hp1 HG02080.hp2 others(12): Show HG00408.hp1 HG01884.hp1 HG02080.hp2 HG02135.hp1 HG02647.hp1 HG02723.hp1 HG02965.hp1 HG02965.hp2 HG03098.hp2 HG03486.hp2 NA18906.hp1 NA18967.hp1 NA18998.hp2 NA19056.hp2 NA20129.hp1	a0004 a0005 a0007 a0004 a0005 a0007	a0004c0025 a0004c0026 a0004c0056 others(3): Show a0004c0025 a0004c0026 a0004c0056 a0004c0057 a0005c0003 a0007c0008	a0004c0025t0002 a0004c0025t0005 a0004c0026t0002 others(4): Show a0004c0025t0002 a0004c0025t0005 a0004c0026t0002 a0004c0056t0002 a0004c0057t0003 a0005c0003t0002 a0007c0008t0005	a0004c0025t0002g0029 a0004c0025t0005g0028 a0004c0026t0002g0031 others(12): Show a0004c0025t0002g0029 a0004c0025t0005g0028 a0004c0026t0002g0031 a0004c0026t0002g0032 a0004c0056t0002g0030 a0004c0057t0003g0046 a0005c0003t0002g0012 a0005c0003t0002g0026 a0005c0003t0002g0027 a0005c0003t0002g0077 a0005c0003t0002g0147 a0007c0008t0005g0177 a0007c0008t0005g0178 a0007c0008t0005g0190 a0007c0008t0005g0191	15	210	0.0714	c.255 others(4): Show c.2555A>G	p.Gln others(6): Show p.Gln852Arg	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	15/36	2608/7326	2555/6138	852/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1046833	G G	C C	missense_variant missense_variant	MODERATE	HG02622.hp2 HG03041.hp1 NA18522.hp1 others(1): Show HG02622.hp2 HG03041.hp1 NA18522.hp1 NA21309.hp2	a0009 a0010 a0009 a0010	a0009c0027 a0010c0014 a0009c0027 a0010c0014	a0009c0027t0011 a0009c0027t0019 a0010c0014t0015 others(1): Show a0009c0027t0011 a0009c0027t0019 a0010c0014t0015 a0010c0014t0016	a0009c0027t0011g0181 a0009c0027t0019g0182 a0010c0014t0015g0051 others(1): Show a0009c0027t0011g0181 a0009c0027t0019g0182 a0010c0014t0015g0051 a0010c0014t0016g0052	4	210	0.0191	c.326 others(4): Show c.3264G>C	p.Leu others(7): Show p.Leu1088Phe	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	19/36	3317/7326	3264/6138	1088/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1047342	A A	G G	missense_variant missense_variant	MODERATE	HG01074.hp1 HG02735.hp2 HG03239.hp1 others(2): Show HG01074.hp1 HG02735.hp2 HG03239.hp1 HG04184.hp1 HG04228.hp2	a0006 a0031 a0006 a0031	a0006c0010 a0006c0030 a0031c0060 a0006c0010 a0006c0030 a0031c0060	a0006c0010t0007 a0006c0030t0001 a0031c0060t0007 a0006c0010t0007 a0006c0030t0001 a0031c0060t0007	a0006c0010t0007g0057 a0006c0010t0007g0059 a0006c0010t0007g0060 others(2): Show a0006c0010t0007g0057 a0006c0010t0007g0059 a0006c0010t0007g0060 a0006c0030t0001g0058 a0031c0060t0007g0194	5	210	0.0238	c.340 others(4): Show c.3404A>G	p.Gln others(7): Show p.Gln1135Arg	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	20/36	3457/7326	3404/6138	1135/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1047588	C C	T T	missense_variant missense_variant	MODERATE	NA19056.hp1 NA19056.hp1	a0030 a0030	a0030c0049 a0030c0049	a0030c0049t0001 a0030c0049t0001	a0030c0049t0001g0110 a0030c0049t0001g0110	1	210	0.0048	c.353 others(4): Show c.3532C>T	p.Arg others(7): Show p.Arg1178Trp	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	21/36	3585/7326	3532/6138	1178/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1047589	G G	A A	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02451.hp2 HG02257.hp2 HG02451.hp2	a0016 a0019 a0016 a0019	a0016c0032 a0019c0035 a0016c0032 a0019c0035	a0016c0032t0003 a0019c0035t0003 a0016c0032t0003 a0019c0035t0003	a0016c0032t0003g0044 a0019c0035t0003g0043 a0016c0032t0003g0044 a0019c0035t0003g0043	2	210	0.0095	c.353 others(4): Show c.3533G>A	p.Arg others(7): Show p.Arg1178Gln	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	21/36	3586/7326	3533/6138	1178/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1047829	G G	C C	missense_variant missense_variant	MODERATE	HG03927.hp1 HG03927.hp1	a0020 a0020	a0020c0038 a0020c0038	a0020c0038t0001 a0020c0038t0001	a0020c0038t0001g0148 a0020c0038t0001g0148	1	210	0.0048	c.368 others(4): Show c.3685G>C	p.Val others(7): Show p.Val1229Leu	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	22/36	3738/7326	3685/6138	1229/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1048126	C C	T T	missense_variant missense_variant	MODERATE	HG03041.hp1 NA21309.hp2 HG03041.hp1 NA21309.hp2	a0009 a0009	a0009c0027 a0009c0027	a0009c0027t0011 a0009c0027t0019 a0009c0027t0011 a0009c0027t0019	a0009c0027t0011g0181 a0009c0027t0019g0182 a0009c0027t0011g0181 a0009c0027t0019g0182	2	210	0.0095	c.386 others(4): Show c.3866C>T	p.Pro others(7): Show p.Pro1289Leu	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	23/36	3919/7326	3866/6138	1289/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1048224	C C	T T	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02559.hp1 HG02572.hp1 others(3): Show HG02258.hp1 HG02559.hp1 HG02572.hp1 HG02647.hp2 NA19030.hp1 NA19043.hp1	a0003 a0003	a0003c0017 a0003c0018 a0003c0037 others(1): Show a0003c0017 a0003c0018 a0003c0037 a0003c0048	a0003c0017t0001 a0003c0018t0002 a0003c0037t0001 others(1): Show a0003c0017t0001 a0003c0018t0002 a0003c0037t0001 a0003c0048t0001	a0003c0017t0001g0033 a0003c0017t0001g0158 a0003c0018t0002g0040 others(3): Show a0003c0017t0001g0033 a0003c0017t0001g0158 a0003c0018t0002g0040 a0003c0018t0002g0041 a0003c0037t0001g0064 a0003c0048t0001g0042	6	210	0.0286	c.396 others(4): Show c.3964C>T	p.Arg others(7): Show p.Arg1322Trp	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	23/36	4017/7326	3964/6138	1322/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1048900	G G	A A	missense_variant missense_variant	MODERATE	HG03098.hp1 HG03579.hp1 HG03098.hp1 HG03579.hp1	a0011 a0011	a0011c0020 a0011c0020	a0011c0020t0009 a0011c0020t0009	a0011c0020t0009g0159 a0011c0020t0009g0160 a0011c0020t0009g0159 a0011c0020t0009g0160	2	210	0.0095	c.413 others(4): Show c.4139G>A	p.Arg others(7): Show p.Arg1380His	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	24/36	4192/7326	4139/6138	1380/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1049046	C C	T T	missense_variant missense_variant	MODERATE	HG02965.hp1 HG03098.hp2 NA18906.hp1 others(1): Show HG02965.hp1 HG03098.hp2 NA18906.hp1 NA20129.hp1	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0005 a0007c0008t0005	a0007c0008t0005g0177 a0007c0008t0005g0178 a0007c0008t0005g0190 others(1): Show a0007c0008t0005g0177 a0007c0008t0005g0178 a0007c0008t0005g0190 a0007c0008t0005g0191	4	210	0.0191	c.428 others(4): Show c.4285C>T	p.Arg others(7): Show p.Arg1429Cys	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	24/36	4338/7326	4285/6138	1429/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1049612	C C	A A	missense_variant missense_variant	MODERATE	NA19085.hp1 NA19085.hp1	a0026 a0026	a0026c0039 a0026c0039	a0026c0039t0001 a0026c0039t0001	a0026c0039t0001g0092 a0026c0039t0001g0092	1	210	0.0048	c.456 others(4): Show c.4561C>A	p.Arg others(7): Show p.Arg1521Ser	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	26/36	4614/7326	4561/6138	1521/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1049746	G G	C C	missense_variant missense_variant	MODERATE	HG02258.hp2 HG02976.hp2 HG03139.hp1 HG02258.hp2 HG02976.hp2 HG03139.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0004 a0008c0009t0004	a0008c0009t0004g0197 a0008c0009t0004g0198 a0008c0009t0004g0199 a0008c0009t0004g0197 a0008c0009t0004g0198 a0008c0009t0004g0199	3	210	0.0143	c.469 others(4): Show c.4695G>C	p.Gln others(7): Show p.Gln1565His	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	26/36	4748/7326	4695/6138	1565/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1049903	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18963.hp2 NA18963.hp2	a0021 a0021	a0021c0040 a0021c0040	a0021c0040t0001 a0021c0040t0001	a0021c0040t0001g0153 a0021c0040t0001g0153	1	210	0.0048	c.474 others(4): Show c.4745G>A	p.Gly others(7): Show p.Gly1582Glu	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	27/36	4798/7326	4745/6138	1582/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1050446	G G	A A	missense_variant missense_variant	MODERATE	HG01123.hp1 HG01884.hp2 HG02109.hp2 others(11): Show HG01123.hp1 HG01884.hp2 HG02109.hp2 HG02258.hp2 HG02280.hp2 HG02572.hp2 HG02615.hp2 HG02970.hp1 HG02976.hp2 HG03098.hp1 HG03139.hp1 HG03139.hp2 HG03579.hp1 NA19043.hp2	a0002 a0008 a0011 others(3): Show a0002 a0008 a0011 a0027 a0028 a0029	a0002c0005 a0002c0062 a0008c0009 others(4): Show a0002c0005 a0002c0062 a0008c0009 a0011c0020 a0027c0046 a0028c0045 a0029c0061	a0002c0005t0004 a0002c0062t0011 a0008c0009t0004 others(4): Show a0002c0005t0004 a0002c0062t0011 a0008c0009t0004 a0011c0020t0009 a0027c0046t0004 a0028c0045t0004 a0029c0061t0004	a0002c0005t0004g0176 a0002c0005t0004g0185 a0002c0005t0004g0186 others(11): Show a0002c0005t0004g0176 a0002c0005t0004g0185 a0002c0005t0004g0186 a0002c0005t0004g0187 a0002c0005t0004g0188 a0002c0062t0011g0174 a0008c0009t0004g0197 a0008c0009t0004g0198 a0008c0009t0004g0199 a0011c0020t0009g0159 a0011c0020t0009g0160 a0027c0046t0004g0062 a0028c0045t0004g0063 a0029c0061t0004g0175	14	210	0.0667	c.499 others(4): Show c.4996G>A	p.Val others(7): Show p.Val1666Ile	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	29/36	5049/7326	4996/6138	1666/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1050545	C C	T T	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02451.hp2 HG02257.hp2 HG02451.hp2	a0016 a0019 a0016 a0019	a0016c0032 a0019c0035 a0016c0032 a0019c0035	a0016c0032t0003 a0019c0035t0003 a0016c0032t0003 a0019c0035t0003	a0016c0032t0003g0044 a0019c0035t0003g0043 a0016c0032t0003g0044 a0019c0035t0003g0043	2	210	0.0095	c.509 others(4): Show c.5095C>T	p.Arg others(7): Show p.Arg1699Cys	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	29/36	5148/7326	5095/6138	1699/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1050776	G G	A A	missense_variant missense_variant	MODERATE	HG02809.hp1 HG02809.hp1	a0022 a0022	a0022c0065 a0022c0065	a0022c0065t0002 a0022c0065t0002	a0022c0065t0002g0179 a0022c0065t0002g0179	1	210	0.0048	c.519 others(4): Show c.5192G>A	p.Arg others(7): Show p.Arg1731Gln	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	30/36	5245/7326	5192/6138	1731/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1051538	C C	T T	missense_variant missense_variant	MODERATE	NA18973.hp2 NA18973.hp2	a0023 a0023	a0023c0043 a0023c0043	a0023c0043t0001 a0023c0043t0001	a0023c0043t0001g0066 a0023c0043t0001g0066	1	210	0.0048	c.545 others(4): Show c.5456C>T	p.Thr others(7): Show p.Thr1819Ile	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	32/36	5509/7326	5456/6138	1819/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1051811	G G	A A	missense_variant missense_variant	MODERATE	HG02040.hp1 HG02040.hp1	a0025 a0025	a0025c0041 a0025c0041	a0025c0041t0001 a0025c0041t0001	a0025c0041t0001g0005 a0025c0041t0001g0005	1	210	0.0048	c.564 others(4): Show c.5647G>A	p.Glu others(7): Show p.Glu1883Lys	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	33/36	5700/7326	5647/6138	1883/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1053827	G G	C C	missense_variant missense_variant	MODERATE	NA18945.hp2 NA18992.hp2 NA18945.hp2 NA18992.hp2	a0012 a0012	a0012c0021 a0012c0021	a0012c0021t0001 a0012c0021t0001	a0012c0021t0001g0138 a0012c0021t0001g0139 a0012c0021t0001g0138 a0012c0021t0001g0139	2	210	0.0095	c.572 others(4): Show c.5726G>C	p.Ser others(7): Show p.Ser1909Thr	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	34/36	5779/7326	5726/6138	1909/2045	chr1	TogoVar
AGRN_chr1_1015120_1061116	1054917	A A	G G	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0024 a0024	a0024c0050 a0024c0050	a0024c0050t0018 a0024c0050t0018	a0024c0050t0018g0022 a0024c0050t0018g0022	1	210	0.0048	c.607 others(4): Show c.6074A>G	p.His others(7): Show p.His2025Arg	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	36/36	6127/7326	6074/6138	2025/2045	chr1	TogoVar
AGRP_chr16_67477571_67488547	67482700	A A	T T	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0007 a0004c0005t0001g0007	1	256	0.0039	c.335 others(3): Show c.335T>A	p.Phe others(6): Show p.Phe112Tyr	AGRP	ENSG00000159723.5	transcript	ENST00000290953.3	protein_coding	4/4	369/498	335/399	112/132	chr16	TogoVar
AGRP_chr16_67477571_67488547	67482703	C C	T T	missense_variant missense_variant	MODERATE	HG00544.hp1 HG00544.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0006 a0003c0004t0001g0006	1	256	0.0039	c.332 others(3): Show c.332G>A	p.Arg others(6): Show p.Arg111His	AGRP	ENSG00000159723.5	transcript	ENST00000290953.3	protein_coding	4/4	366/498	332/399	111/132	chr16	TogoVar
AGRP_chr16_67477571_67488547	67483042	C C	T T	missense_variant missense_variant	MODERATE	HG01070.hp1 HG01071.hp2 NA20752.hp2 HG01070.hp1 HG01071.hp2 NA20752.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0005 a0002c0003t0001g0005	3	256	0.0117	c.199 others(3): Show c.199G>A	p.Ala others(5): Show p.Ala67Thr	AGRP	ENSG00000159723.5	transcript	ENST00000290953.3	protein_coding	3/4	233/498	199/399	67/132	chr16	TogoVar
AGTPBP1_chr9_85541539_85746954	85575433	T T	C C	missense_variant missense_variant	MODERATE	NA19240.hp1 NA19240.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0090 a0008c0010t0001g0090	1	302	0.0033	c.338 others(4): Show c.3385A>G	p.Lys others(7): Show p.Lys1129Glu	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	25/26	3598/4464	3385/3681	1129/1226	chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85575443	C C	G G	missense_variant missense_variant	MODERATE	HG03453.hp2 HG03453.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0143 a0007c0009t0001g0143	1	302	0.0033	c.337 others(4): Show c.3375G>C	p.Glu others(7): Show p.Glu1125Asp	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	25/26	3588/4464	3375/3681	1125/1226	chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85585489	C C	G G	missense_variant missense_variant	MODERATE	NA18992.hp2 NA18992.hp2	a0009 a0009	a0009c0008 a0009c0008	a0009c0008t0001 a0009c0008t0001	a0009c0008t0001g0136 a0009c0008t0001g0136	1	302	0.0033	c.313 others(4): Show c.3139G>C	p.Asp others(7): Show p.Asp1047His	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	23/26	3352/4464	3139/3681	1047/1226	chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85586831	C C	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02015.hp2 HG02015.hp2	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0001	a0006c0007t0001g0066 a0006c0007t0001g0066	1	302	0.0033	c.303 others(4): Show c.3033G>C	p.Leu others(7): Show p.Leu1011Phe	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	22/26	3246/4464	3033/3681	1011/1226	chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85633049	G G	T T	missense_variant missense_variant	MODERATE	HG00544.hp1 HG00544.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0074 a0005c0006t0001g0074	1	302	0.0033	c.162 others(4): Show c.1628C>A	p.Pro others(6): Show p.Pro543His	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	14/26	1841/4464	1628/3681	543/1226	chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85633298	G G	A A	missense_variant missense_variant	MODERATE	HG00558.hp1 HG00558.hp1	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0002 a0004c0012t0002	a0004c0012t0002g0244 a0004c0012t0002g0244	1	302	0.0033	c.137 others(4): Show c.1379C>T	p.Thr others(6): Show p.Thr460Met	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	14/26	1592/4464	1379/3681	460/1226	chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85633370	T T	C C	missense_variant missense_variant	MODERATE	HG01069.hp2 HG01069.hp2	a0003 a0003	a0003c0014 a0003c0014	a0003c0014t0006 a0003c0014t0006	a0003c0014t0006g0299 a0003c0014t0006g0299	1	302	0.0033	c.130 others(4): Show c.1307A>G	p.Tyr others(6): Show p.Tyr436Cys	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	14/26	1520/4464	1307/3681	436/1226	chr9	TogoVar
AGTPBP1_chr9_85541539_85746954	85642896	T T	A A	missense_variant missense_variant	MODERATE	HG02735.hp2 NA18961.hp2 NA18995.hp2 others(2): Show HG02735.hp2 NA18961.hp2 NA18995.hp2 NA19012.hp1 NA19080.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0196 a0002c0003t0002g0200 a0002c0003t0002g0219 others(2): Show a0002c0003t0002g0196 a0002c0003t0002g0200 a0002c0003t0002g0219 a0002c0003t0002g0220 a0002c0003t0002g0221	5	302	0.0166	c.123 others(4): Show c.1233A>T	p.Glu others(6): Show p.Glu411Asp	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	13/26	1446/4464	1233/3681	411/1226	chr9	TogoVar

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