Joint Open Genome and Omics Platform (JoGo)

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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
ARHGAP45_chr19_1062167_1091628	1079960	G G	A A	missense_variant missense_variant	MODERATE	HG00733.hp2 HG00741.hp2 HG01168.hp1 others(5): Show HG00733.hp2 HG00741.hp2 HG01168.hp1 HG01169.hp1 HG01175.hp1 NA18970.hp1 NA19011.hp2 NA20129.hp2	a0006 a0006	a0006c0011 a0006c0018 a0006c0011 a0006c0018	a0006c0011t0001 a0006c0011t0002 a0006c0018t0005 a0006c0011t0001 a0006c0011t0002 a0006c0018t0005	a0006c0011t0001g0083 a0006c0011t0002g0027 a0006c0011t0002g0136 others(3): Show a0006c0011t0001g0083 a0006c0011t0002g0027 a0006c0011t0002g0136 a0006c0011t0002g0137 a0006c0018t0005g0026 a0006c0018t0005g0082	8	418	0.0191	c.154 others(4): Show c.1545G>A	p.Met others(6): Show p.Met515Ile	ARHGAP45	ENSG00000180448.11	transcript	ENST00000313093.7	protein_coding	13/23	1784/4272	1545/3411	515/1136	chr19	TogoVar
ARHGAP45_chr19_1062167_1091628	1080682	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA18994.hp1 NA19010.hp2 NA19062.hp2 others(1): Show NA18994.hp1 NA19010.hp2 NA19062.hp2 NA19084.hp1	a0010 a0010	a0010c0013 a0010c0013	a0010c0013t0012 a0010c0013t0012	a0010c0013t0012g0002 a0010c0013t0012g0170 a0010c0013t0012g0284 a0010c0013t0012g0002 a0010c0013t0012g0170 a0010c0013t0012g0284	4	418	0.0096	c.191 others(4): Show c.1913G>A	p.Gly others(6): Show p.Gly638Glu	ARHGAP45	ENSG00000180448.11	transcript	ENST00000313093.7	protein_coding	16/23	2152/4272	1913/3411	638/1136	chr19	TogoVar
ARHGAP45_chr19_1062167_1091628	1081869	T T	G G	missense_variant missense_variant	MODERATE	NA19062.hp1 NA19062.hp1	a0022 a0022	a0022c0053 a0022c0053	a0022c0053t0004 a0022c0053t0004	a0022c0053t0004g0150 a0022c0053t0004g0150	1	418	0.0024	c.242 others(4): Show c.2425T>G	p.Cys others(6): Show p.Cys809Gly	ARHGAP45	ENSG00000180448.11	transcript	ENST00000313093.7	protein_coding	19/23	2664/4272	2425/3411	809/1136	chr19	TogoVar
ARHGAP45_chr19_1062167_1091628	1082978	G G	C C	missense_variant missense_variant	MODERATE	NA19043.hp1 NA19043.hp1	a0016 a0016	a0016c0037 a0016c0037	a0016c0037t0022 a0016c0037t0022	a0016c0037t0022g0200 a0016c0037t0022g0200	1	418	0.0024	c.265 others(4): Show c.2656G>C	p.Ala others(6): Show p.Ala886Pro	ARHGAP45	ENSG00000180448.11	transcript	ENST00000313093.7	protein_coding	20/23	2895/4272	2656/3411	886/1136	chr19	TogoVar
ARHGAP45_chr19_1062167_1091628	1083029	C C	T T	missense_variant missense_variant	MODERATE	HG01981.hp1 HG01981.hp1	a0021 a0021	a0021c0052 a0021c0052	a0021c0052t0007 a0021c0052t0007	a0021c0052t0007g0004 a0021c0052t0007g0004	1	418	0.0024	c.270 others(4): Show c.2707C>T	p.Arg others(6): Show p.Arg903Trp	ARHGAP45	ENSG00000180448.11	transcript	ENST00000313093.7	protein_coding	20/23	2946/4272	2707/3411	903/1136	chr19	TogoVar
ARHGAP45_chr19_1062167_1091628	1084322	G G	C C	missense_variant missense_variant	MODERATE	HG02970.hp2 HG02976.hp2 HG02970.hp2 HG02976.hp2	a0015 a0019 a0015 a0019	a0015c0038 a0019c0059 a0015c0038 a0019c0059	a0015c0038t0014 a0019c0059t0014 a0015c0038t0014 a0019c0059t0014	a0015c0038t0014g0199 a0019c0059t0014g0177 a0015c0038t0014g0199 a0019c0059t0014g0177	2	418	0.0048	c.304 others(4): Show c.3040G>C	p.Glu others(7): Show p.Glu1014Gln	ARHGAP45	ENSG00000180448.11	transcript	ENST00000313093.7	protein_coding	22/23	3279/4272	3040/3411	1014/1136	chr19	TogoVar
ARHGAP45_chr19_1062167_1091628	1084337	G G	A A	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02615.hp1 HG02717.hp2 others(1): Show HG02055.hp1 HG02615.hp1 HG02717.hp2 HG02818.hp2	a0012 a0018 a0023 a0012 a0018 a0023	a0012c0027 a0018c0055 a0023c0045 a0012c0027 a0018c0055 a0023c0045	a0012c0027t0009 a0018c0055t0006 a0023c0045t0002 a0012c0027t0009 a0018c0055t0006 a0023c0045t0002	a0012c0027t0009g0034 a0018c0055t0006g0301 a0023c0045t0002g0053 a0012c0027t0009g0034 a0018c0055t0006g0301 a0023c0045t0002g0053	4	418	0.0096	c.305 others(4): Show c.3055G>A	p.Gly others(7): Show p.Gly1019Arg	ARHGAP45	ENSG00000180448.11	transcript	ENST00000313093.7	protein_coding	22/23	3294/4272	3055/3411	1019/1136	chr19	TogoVar
ARHGAP45_chr19_1062167_1091628	1085812	G G	A A	missense_variant missense_variant	MODERATE	HG03209.hp2 HG03209.hp2	a0017 a0017	a0017c0057 a0017c0057	a0017c0057t0019 a0017c0057t0019	a0017c0057t0019g0178 a0017c0057t0019g0178	1	418	0.0024	c.321 others(4): Show c.3217G>A	p.Gly others(7): Show p.Gly1073Ser	ARHGAP45	ENSG00000180448.11	transcript	ENST00000313093.7	protein_coding	23/23	3456/4272	3217/3411	1073/1136	chr19	TogoVar
ARHGAP45_chr19_1062167_1091628	1085864	A A	G G	missense_variant missense_variant	MODERATE	HG01891.hp2 HG02895.hp2 HG03579.hp2 others(5): Show HG01891.hp2 HG02895.hp2 HG03579.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA20300.hp2 NA21309.hp2	a0008 a0016 a0020 others(1): Show a0008 a0016 a0020 a0024	a0008c0010 a0016c0037 a0020c0051 others(1): Show a0008c0010 a0016c0037 a0020c0051 a0024c0043	a0008c0010t0001 a0016c0037t0022 a0020c0051t0009 others(1): Show a0008c0010t0001 a0016c0037t0022 a0020c0051t0009 a0024c0043t0002	a0008c0010t0001g0019 a0008c0010t0001g0213 a0008c0010t0001g0231 others(3): Show a0008c0010t0001g0019 a0008c0010t0001g0213 a0008c0010t0001g0231 a0016c0037t0022g0200 a0020c0051t0009g0146 a0024c0043t0002g0081	8	418	0.0191	c.326 others(4): Show c.3269A>G	p.Glu others(7): Show p.Glu1090Gly	ARHGAP45	ENSG00000180448.11	transcript	ENST00000313093.7	protein_coding	23/23	3508/4272	3269/3411	1090/1136	chr19	TogoVar
ARHGAP45_chr19_1062167_1091628	1085966	C C	T T	missense_variant missense_variant	MODERATE	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0013 a0013	a0013c0033 a0013c0033	a0013c0033t0005 a0013c0033t0005	a0013c0033t0005g0233 a0013c0033t0005g0233	1	418	0.0024	c.337 others(4): Show c.3371C>T	p.Thr others(7): Show p.Thr1124Ile	ARHGAP45	ENSG00000180448.11	transcript	ENST00000313093.7	protein_coding	23/23	3610/4272	3371/3411	1124/1136	chr19	TogoVar
ARHGAP4_chrX_153902378_153931264	153907829	C C	T T	missense_variant missense_variant	MODERATE	NA18998.hp2 NA19010.hp1 NA18998.hp2 NA19010.hp1	a0004 a0004	a0004c0010 a0004c0010	a0004c0010t0001 a0004c0010t0001	a0004c0010t0001g0121 a0004c0010t0001g0134 a0004c0010t0001g0121 a0004c0010t0001g0134	2	308	0.0065	c.274 others(4): Show c.2741G>A	p.Arg others(6): Show p.Arg914His	ARHGAP4	ENSG00000089820.17	transcript	ENST00000350060.10	protein_coding	22/22	2803/3254	2741/2841	914/946	chrX	TogoVar
ARHGAP4_chrX_153902378_153931264	153909841	C C	A A	missense_variant missense_variant	MODERATE	HG00741.hp1 HG02738.hp1 HG03239.hp2 others(2): Show HG00741.hp1 HG02738.hp1 HG03239.hp2 HG03704.hp1 HG04184.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0027 a0003c0005t0001g0028 a0003c0005t0001g0084 a0003c0005t0001g0027 a0003c0005t0001g0028 a0003c0005t0001g0084	5	308	0.0162	c.231 others(4): Show c.2314G>T	p.Val others(6): Show p.Val772Leu	ARHGAP4	ENSG00000089820.17	transcript	ENST00000350060.10	protein_coding	19/22	2376/3254	2314/2841	772/946	chrX	TogoVar
ARHGAP4_chrX_153902378_153931264	153909852	C C	T T	missense_variant missense_variant	MODERATE	NA18993.hp1 NA18993.hp1	a0006 a0006	a0006c0020 a0006c0020	a0006c0020t0001 a0006c0020t0001	a0006c0020t0001g0049 a0006c0020t0001g0049	1	308	0.0033	c.230 others(4): Show c.2303G>A	p.Arg others(6): Show p.Arg768Gln	ARHGAP4	ENSG00000089820.17	transcript	ENST00000350060.10	protein_coding	19/22	2365/3254	2303/2841	768/946	chrX	TogoVar
ARHGAP4_chrX_153902378_153931264	153910596	G G	A A	missense_variant missense_variant	MODERATE	HG01891.hp2 HG01891.hp2	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0001 a0011c0016t0001	a0011c0016t0001g0165 a0011c0016t0001g0165	1	308	0.0033	c.183 others(4): Show c.1832C>T	p.Ala others(6): Show p.Ala611Val	ARHGAP4	ENSG00000089820.17	transcript	ENST00000350060.10	protein_coding	16/22	1894/3254	1832/2841	611/946	chrX	TogoVar
ARHGAP4_chrX_153902378_153931264	153913444	C C	T T	missense_variant missense_variant	MODERATE	HG04204.hp1 HG04204.hp1	a0012 a0012	a0012c0012 a0012c0012	a0012c0012t0001 a0012c0012t0001	a0012c0012t0001g0141 a0012c0012t0001g0141	1	308	0.0033	c.129 others(4): Show c.1291G>A	p.Gly others(6): Show p.Gly431Ser	ARHGAP4	ENSG00000089820.17	transcript	ENST00000350060.10	protein_coding	9/22	1353/3254	1291/2841	431/946	chrX	TogoVar
ARHGAP4_chrX_153902378_153931264	153921489	G G	A A	missense_variant missense_variant	MODERATE	HG01099.hp1 HG01884.hp1 HG03130.hp1 others(3): Show HG01099.hp1 HG01884.hp1 HG03130.hp1 HG03225.hp1 HG03540.hp1 NA20300.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0037 a0002c0004t0001g0157 a0002c0004t0001g0158 others(2): Show a0002c0004t0001g0037 a0002c0004t0001g0157 a0002c0004t0001g0158 a0002c0004t0001g0159 a0002c0004t0001g0177	6	308	0.0195	c.311 others(3): Show c.311C>T	p.Ala others(6): Show p.Ala104Val	ARHGAP4	ENSG00000089820.17	transcript	ENST00000350060.10	protein_coding	3/22	373/3254	311/2841	104/946	chrX	TogoVar
ARHGAP5_chr14_32072304_32164728	32091474	G G	C C	missense_variant missense_variant	MODERATE	HG03831.hp2 HG03831.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0004 a0004c0005t0004	a0004c0005t0004g0173 a0004c0005t0004g0173	1	186	0.0054	c.805 others(3): Show c.805G>C	p.Val others(6): Show p.Val269Leu	ARHGAP5	ENSG00000100852.14	transcript	ENST00000345122.8	protein_coding	2/7	1105/9589	805/4509	269/1502	chr14	TogoVar
ARHGAP5_chr14_32072304_32164728	32092572	C C	T T	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02451.hp1 HG03195.hp2 HG02145.hp1 HG02451.hp1 HG03195.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0135 a0003c0004t0001g0136 a0003c0004t0001g0137 a0003c0004t0001g0135 a0003c0004t0001g0136 a0003c0004t0001g0137	3	186	0.0161	c.190 others(4): Show c.1903C>T	p.Arg others(6): Show p.Arg635Trp	ARHGAP5	ENSG00000100852.14	transcript	ENST00000345122.8	protein_coding	2/7	2203/9589	1903/4509	635/1502	chr14	TogoVar
ARHGAP5_chr14_32072304_32164728	32092703	A A	G G	missense_variant missense_variant	MODERATE	HG01515.hp1 HG01515.hp1	a0014 a0014	a0014c0016 a0014c0016	a0014c0016t0004 a0014c0016t0004	a0014c0016t0004g0178 a0014c0016t0004g0178	1	186	0.0054	c.203 others(4): Show c.2034A>G	p.Ile others(6): Show p.Ile678Met	ARHGAP5	ENSG00000100852.14	transcript	ENST00000345122.8	protein_coding	2/7	2334/9589	2034/4509	678/1502	chr14	TogoVar
ARHGAP5_chr14_32072304_32164728	32092969	T T	C C	missense_variant missense_variant	MODERATE	HG02809.hp1 HG02809.hp1	a0013 a0013	a0013c0017 a0013c0017	a0013c0017t0016 a0013c0017t0016	a0013c0017t0016g0005 a0013c0017t0016g0005	1	186	0.0054	c.230 others(4): Show c.2300T>C	p.Ile others(6): Show p.Ile767Thr	ARHGAP5	ENSG00000100852.14	transcript	ENST00000345122.8	protein_coding	2/7	2600/9589	2300/4509	767/1502	chr14	TogoVar
ARHGAP5_chr14_32072304_32164728	32092989	T T	C C	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0072 a0005c0006t0001g0072	1	186	0.0054	c.232 others(4): Show c.2320T>C	p.Ser others(6): Show p.Ser774Pro	ARHGAP5	ENSG00000100852.14	transcript	ENST00000345122.8	protein_coding	2/7	2620/9589	2320/4509	774/1502	chr14	TogoVar
ARHGAP5_chr14_32072304_32164728	32093048	T T	A A	missense_variant missense_variant	MODERATE	NA19065.hp1 NA19065.hp1	a0012 a0012	a0012c0007 a0012c0007	a0012c0007t0001 a0012c0007t0001	a0012c0007t0001g0064 a0012c0007t0001g0064	1	186	0.0054	c.237 others(4): Show c.2379T>A	p.Asp others(6): Show p.Asp793Glu	ARHGAP5	ENSG00000100852.14	transcript	ENST00000345122.8	protein_coding	2/7	2679/9589	2379/4509	793/1502	chr14	TogoVar
ARHGAP5_chr14_32072304_32164728	32093204	T T	G G	missense_variant missense_variant	MODERATE	NA21309.hp1 NA21309.hp1	a0011 a0011	a0011c0008 a0011c0008	a0011c0008t0001 a0011c0008t0001	a0011c0008t0001g0130 a0011c0008t0001g0130	1	186	0.0054	c.253 others(4): Show c.2535T>G	p.Asp others(6): Show p.Asp845Glu	ARHGAP5	ENSG00000100852.14	transcript	ENST00000345122.8	protein_coding	2/7	2835/9589	2535/4509	845/1502	chr14	TogoVar
ARHGAP5_chr14_32072304_32164728	32093524	A A	G G	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02257.hp2	a0010 a0010	a0010c0015 a0010c0015	a0010c0015t0024 a0010c0015t0024	a0010c0015t0024g0132 a0010c0015t0024g0132	1	186	0.0054	c.285 others(4): Show c.2855A>G	p.Asp others(6): Show p.Asp952Gly	ARHGAP5	ENSG00000100852.14	transcript	ENST00000345122.8	protein_coding	2/7	3155/9589	2855/4509	952/1502	chr14	TogoVar
ARHGAP5_chr14_32072304_32164728	32093527	A A	G G	missense_variant missense_variant	MODERATE	HG02965.hp1 HG03098.hp1 NA18522.hp2 HG02965.hp1 HG03098.hp1 NA18522.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0019 a0002c0003t0001 a0002c0003t0019	a0002c0003t0001g0145 a0002c0003t0001g0147 a0002c0003t0019g0146 a0002c0003t0001g0145 a0002c0003t0001g0147 a0002c0003t0019g0146	3	186	0.0161	c.285 others(4): Show c.2858A>G	p.Asn others(6): Show p.Asn953Ser	ARHGAP5	ENSG00000100852.14	transcript	ENST00000345122.8	protein_coding	2/7	3158/9589	2858/4509	953/1502	chr14	TogoVar
ARHGAP5_chr14_32072304_32164728	32093959	C C	A A	missense_variant missense_variant	MODERATE	HG02572.hp1 HG02572.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0003 a0006c0009t0003	a0006c0009t0003g0172 a0006c0009t0003g0172	1	186	0.0054	c.329 others(4): Show c.3290C>A	p.Thr others(7): Show p.Thr1097Lys	ARHGAP5	ENSG00000100852.14	transcript	ENST00000345122.8	protein_coding	2/7	3590/9589	3290/4509	1097/1502	chr14	TogoVar
ARHGAP5_chr14_32072304_32164728	32093961	A A	G G	missense_variant missense_variant	MODERATE	HG00609.hp2 HG00609.hp2	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0015 a0009c0014t0015	a0009c0014t0015g0159 a0009c0014t0015g0159	1	186	0.0054	c.329 others(4): Show c.3292A>G	p.Ile others(7): Show p.Ile1098Val	ARHGAP5	ENSG00000100852.14	transcript	ENST00000345122.8	protein_coding	2/7	3592/9589	3292/4509	1098/1502	chr14	TogoVar
ARHGAP5_chr14_32072304_32164728	32094246	C C	T T	missense_variant missense_variant	MODERATE	HG01255.hp2 HG01255.hp2	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0018 a0007c0013t0018	a0007c0013t0018g0062 a0007c0013t0018g0062	1	186	0.0054	c.357 others(4): Show c.3577C>T	p.Arg others(7): Show p.Arg1193Cys	ARHGAP5	ENSG00000100852.14	transcript	ENST00000345122.8	protein_coding	2/7	3877/9589	3577/4509	1193/1502	chr14	TogoVar
ARHGAP5_chr14_32072304_32164728	32154655	G G	A A	missense_variant missense_variant	MODERATE	HG01515.hp2 HG01515.hp2	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0026 a0008c0011t0001g0026	1	186	0.0054	c.421 others(4): Show c.4216G>A	p.Ala others(7): Show p.Ala1406Thr	ARHGAP5	ENSG00000100852.14	transcript	ENST00000345122.8	protein_coding	7/7	4516/9589	4216/4509	1406/1502	chr14	TogoVar
ARHGAP6_chrX_11132544_11670920	11139034	C C	A A	missense_variant missense_variant	MODERATE	HG02145.hp1 HG02145.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0012 a0004c0008t0012	a0004c0008t0012g0002 a0004c0008t0012g0002	1	144	0.0069	c.275 others(4): Show c.2754G>T	p.Glu others(6): Show p.Glu918Asp	ARHGAP6	ENSG00000047648.23	transcript	ENST00000337414.9	protein_coding	13/13	3846/5336	2754/2925	918/974	chrX	TogoVar
ARHGAP6_chrX_11132544_11670920	11139415	G G	C C	missense_variant missense_variant	MODERATE	HG01256.hp1 HG01515.hp1 HG02145.hp1 others(13): Show HG01256.hp1 HG01515.hp1 HG02145.hp1 HG02258.hp1 HG02698.hp1 HG02735.hp1 HG02922.hp2 HG03492.hp1 HG03516.hp1 NA18906.hp2 NA19082.hp1 NA19240.hp1 NA20129.hp1 NA20129.hp2 NA20805.hp1 NA20905.hp1	a0002 a0004 a0002 a0004	a0002c0002 a0002c0005 a0004c0008 a0002c0002 a0002c0005 a0004c0008	a0002c0002t0003 a0002c0002t0006 a0002c0002t0009 others(4): Show a0002c0002t0003 a0002c0002t0006 a0002c0002t0009 a0002c0002t0016 a0002c0002t0018 a0002c0005t0006 a0004c0008t0012	a0002c0002t0003g0005 a0002c0002t0003g0006 a0002c0002t0003g0009 others(13): Show a0002c0002t0003g0005 a0002c0002t0003g0006 a0002c0002t0003g0009 a0002c0002t0003g0010 a0002c0002t0003g0011 a0002c0002t0003g0012 a0002c0002t0003g0016 a0002c0002t0003g0019 a0002c0002t0003g0034 a0002c0002t0006g0031 a0002c0002t0009g0127 a0002c0002t0009g0140 a0002c0002t0016g0007 a0002c0002t0018g0029 a0002c0005t0006g0018 a0004c0008t0012g0002	16	144	0.1111	c.237 others(4): Show c.2373C>G	p.Asp others(6): Show p.Asp791Glu	ARHGAP6	ENSG00000047648.23	transcript	ENST00000337414.9	protein_coding	13/13	3465/5336	2373/2925	791/974	chrX	TogoVar
ARHGAP6_chrX_11132544_11670920	11188756	G G	A A	missense_variant missense_variant	MODERATE	HG02895.hp1 HG02895.hp1	a0003 a0003	a0003c0010 a0003c0010	a0003c0010t0017 a0003c0010t0017	a0003c0010t0017g0119 a0003c0010t0017g0119	1	144	0.0069	c.104 others(4): Show c.1049C>T	p.Pro others(6): Show p.Pro350Leu	ARHGAP6	ENSG00000047648.23	transcript	ENST00000337414.9	protein_coding	4/13	2141/5336	1049/2925	350/974	chrX	TogoVar
ARHGAP8_chr22_44747575_44867784	44786586	A A	G G	missense_variant missense_variant	MODERATE	NA18944.hp2 NA18944.hp2	a0029 a0029	a0029c0081 a0029c0081	a0029c0081t0003 a0029c0081t0003	a0029c0081t0003g0209 a0029c0081t0003g0209	1	390	0.0026	c.59A others(2): Show c.59A>G	p.His others(5): Show p.His20Arg	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	2/12	183/1615	59/1302	20/433	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44802121	C C	T T	missense_variant missense_variant	MODERATE	HG02523.hp2 NA19005.hp2 HG02523.hp2 NA19005.hp2	a0015 a0015	a0015c0078 a0015c0079 a0015c0078 a0015c0079	a0015c0078t0003 a0015c0079t0003 a0015c0078t0003 a0015c0079t0003	a0015c0078t0003g0291 a0015c0079t0003g0383 a0015c0078t0003g0291 a0015c0079t0003g0383	2	390	0.0051	c.124 others(3): Show c.124C>T	p.Arg others(5): Show p.Arg42Trp	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	3/12	248/1615	124/1302	42/433	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44802154	C C	T T	missense_variant missense_variant	MODERATE	HG00735.hp1 HG01070.hp1 HG00735.hp1 HG01070.hp1	a0014 a0014	a0014c0031 a0014c0031	a0014c0031t0003 a0014c0031t0003	a0014c0031t0003g0035 a0014c0031t0003g0290 a0014c0031t0003g0035 a0014c0031t0003g0290	2	390	0.0051	c.157 others(3): Show c.157C>T	p.Arg others(5): Show p.Arg53Trp	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	3/12	281/1615	157/1302	53/433	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44808377	A A	T T	missense_variant missense_variant	MODERATE	HG03209.hp2 HG03209.hp2	a0028 a0028	a0028c0077 a0028c0077	a0028c0077t0006 a0028c0077t0006	a0028c0077t0006g0068 a0028c0077t0006g0068	1	390	0.0026	c.238 others(3): Show c.238A>T	p.Asn others(5): Show p.Asn80Tyr	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	4/12	362/1615	238/1302	80/433	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44822406	A A	G G	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02559.hp1 HG02723.hp1 others(7): Show HG02258.hp1 HG02559.hp1 HG02723.hp1 HG02723.hp2 HG02886.hp1 HG02896.hp2 HG02965.hp1 HG03139.hp2 HG03471.hp1 HG03471.hp2	a0006 a0009 a0016 a0006 a0009 a0016	a0006c0027 a0006c0030 a0006c0074 others(2): Show a0006c0027 a0006c0030 a0006c0074 a0009c0026 a0016c0075	a0006c0027t0001 a0006c0030t0001 a0006c0074t0001 others(2): Show a0006c0027t0001 a0006c0030t0001 a0006c0074t0001 a0009c0026t0005 a0016c0075t0005	a0006c0027t0001g0314 a0006c0027t0001g0346 a0006c0027t0001g0349 others(7): Show a0006c0027t0001g0314 a0006c0027t0001g0346 a0006c0027t0001g0349 a0006c0030t0001g0105 a0006c0030t0001g0379 a0006c0074t0001g0049 a0009c0026t0005g0019 a0009c0026t0005g0066 a0009c0026t0005g0261 a0016c0075t0005g0065	10	390	0.0256	c.422 others(3): Show c.422A>G	p.Tyr others(6): Show p.Tyr141Cys	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	6/12	546/1615	422/1302	141/433	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44822459	G G	A A	missense_variant missense_variant	MODERATE	HG01255.hp2 HG01358.hp2 HG01255.hp2 HG01358.hp2	a0013 a0013	a0013c0032 a0013c0032	a0013c0032t0001 a0013c0032t0001	a0013c0032t0001g0288 a0013c0032t0001g0378 a0013c0032t0001g0288 a0013c0032t0001g0378	2	390	0.0051	c.475 others(3): Show c.475G>A	p.Glu others(6): Show p.Glu159Lys	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	6/12	599/1615	475/1302	159/433	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44825518	G G	A A	missense_variant missense_variant	MODERATE	NA18961.hp1 NA18969.hp2 NA19091.hp2 NA18961.hp1 NA18969.hp2 NA19091.hp2	a0010 a0017 a0010 a0017	a0010c0052 a0010c0054 a0017c0053 a0010c0052 a0010c0054 a0017c0053	a0010c0052t0007 a0010c0054t0004 a0017c0053t0002 a0010c0052t0007 a0010c0054t0004 a0017c0053t0002	a0010c0052t0007g0093 a0010c0054t0004g0117 a0017c0053t0002g0307 a0010c0052t0007g0093 a0010c0054t0004g0117 a0017c0053t0002g0307	3	390	0.0077	c.521 others(3): Show c.521G>A	p.Arg others(6): Show p.Arg174Gln	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	7/12	645/1615	521/1302	174/433	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44825524	C C	T T	missense_variant missense_variant	MODERATE	HG01496.hp2 HG02280.hp1 HG02622.hp1 others(6): Show HG01496.hp2 HG02280.hp1 HG02622.hp1 HG02622.hp2 HG03195.hp2 HG03486.hp2 NA18522.hp1 NA19240.hp2 NA20129.hp2	a0005 a0018 a0005 a0018	a0005c0015 a0005c0025 a0005c0072 others(1): Show a0005c0015 a0005c0025 a0005c0072 a0018c0073	a0005c0015t0001 a0005c0025t0001 a0005c0072t0001 others(1): Show a0005c0015t0001 a0005c0025t0001 a0005c0072t0001 a0018c0073t0001	a0005c0015t0001g0352 a0005c0015t0001g0353 a0005c0015t0001g0354 others(6): Show a0005c0015t0001g0352 a0005c0015t0001g0353 a0005c0015t0001g0354 a0005c0015t0001g0357 a0005c0025t0001g0075 a0005c0025t0001g0303 a0005c0025t0001g0347 a0005c0072t0001g0322 a0018c0073t0001g0104	9	390	0.0231	c.527 others(3): Show c.527C>T	p.Pro others(6): Show p.Pro176Leu	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	7/12	651/1615	527/1302	176/433	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44859739	A A	C C	missense_variant missense_variant	MODERATE	HG02559.hp1 HG02559.hp1	a0016 a0016	a0016c0075 a0016c0075	a0016c0075t0005 a0016c0075t0005	a0016c0075t0005g0065 a0016c0075t0005g0065	1	390	0.0026	c.886 others(3): Show c.886A>C	p.Ser others(6): Show p.Ser296Arg	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	11/12	1010/1615	886/1302	296/433	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44859748	C C	T T	missense_variant missense_variant	MODERATE	HG01243.hp1 HG02258.hp2 HG02486.hp1 others(4): Show HG01243.hp1 HG02258.hp2 HG02486.hp1 HG02572.hp2 HG03209.hp2 NA19030.hp2 NA20300.hp1	a0007 a0028 a0007 a0028	a0007c0022 a0007c0044 a0007c0049 others(2): Show a0007c0022 a0007c0044 a0007c0049 a0007c0071 a0028c0077	a0007c0022t0006 a0007c0044t0006 a0007c0049t0006 others(2): Show a0007c0022t0006 a0007c0044t0006 a0007c0049t0006 a0007c0071t0006 a0028c0077t0006	a0007c0022t0006g0048 a0007c0022t0006g0358 a0007c0022t0006g0361 others(4): Show a0007c0022t0006g0048 a0007c0022t0006g0358 a0007c0022t0006g0361 a0007c0044t0006g0020 a0007c0049t0006g0056 a0007c0071t0006g0320 a0028c0077t0006g0068	7	390	0.0180	c.895 others(3): Show c.895C>T	p.Arg others(6): Show p.Arg299Cys	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	11/12	1019/1615	895/1302	299/433	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44859757	G G	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00423.hp2 HG00544.hp1 others(123): Show HG00099.hp2 HG00423.hp2 HG00544.hp1 HG00558.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00673.hp1 HG01069.hp1 HG01081.hp1 HG01106.hp2 HG01109.hp2 HG01168.hp1 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp2 HG01516.hp1 HG01891.hp2 HG02027.hp1 HG02055.hp2 HG02056.hp1 HG02071.hp2 HG02129.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02602.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02738.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03017.hp1 HG03130.hp1 HG03209.hp1 HG03225.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp1 HG03490.hp2 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp2 HG03831.hp1 HG03942.hp1 HG04199.hp2 HG04228.hp2 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp2 NA18941.hp2 NA18943.hp2 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp2 NA18961.hp1 NA18962.hp1 NA18962.hp2 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18977.hp1 NA18979.hp2 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18988.hp1 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18994.hp2 NA19000.hp2 NA19003.hp1 NA19004.hp1 NA19004.hp2 NA19011.hp1 NA19030.hp1 NA19058.hp2 NA19060.hp1 NA19065.hp1 NA19065.hp2 NA19068.hp1 NA19070.hp2 NA19074.hp2 NA19079.hp2 NA19081.hp1 NA19084.hp1 NA19091.hp1 NA19091.hp2 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2	a0002 a0004 a0008 others(8): Show a0002 a0004 a0008 a0009 a0010 a0012 a0016 a0017 a0019 a0026 a0027	a0002c0003 a0002c0006 a0002c0011 others(33): Show a0002c0003 a0002c0006 a0002c0011 a0002c0013 a0002c0016 a0002c0019 a0002c0020 a0002c0023 a0002c0028 a0002c0029 a0002c0041 a0002c0046 a0002c0047 a0002c0051 a0002c0055 a0002c0057 a0002c0060 a0002c0064 a0002c0068 a0002c0069 a0002c0076 a0004c0012 a0004c0017 a0004c0058 a0008c0014 a0008c0033 a0009c0026 a0010c0052 a0010c0054 a0012c0038 a0012c0056 a0016c0075 a0017c0053 a0019c0045 a0026c0059 a0027c0065	a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 others(39): Show a0002c0003t0001 a0002c0003t0003 a0002c0003t0004 a0002c0006t0001 a0002c0006t0004 a0002c0011t0005 a0002c0011t0007 a0002c0013t0005 a0002c0013t0007 a0002c0016t0004 a0002c0019t0008 a0002c0020t0005 a0002c0023t0005 a0002c0028t0005 a0002c0029t0004 a0002c0041t0005 a0002c0046t0007 a0002c0047t0005 a0002c0051t0004 a0002c0055t0005 a0002c0057t0005 a0002c0060t0004 a0002c0064t0005 a0002c0068t0008 a0002c0069t0004 a0002c0076t0004 a0004c0012t0002 a0004c0012t0015 a0004c0017t0002 a0004c0058t0002 a0008c0014t0005 a0008c0033t0005 a0009c0026t0005 a0010c0052t0007 a0010c0054t0004 a0012c0038t0005 a0012c0056t0005 a0016c0075t0005 a0017c0053t0002 a0019c0045t0004 a0026c0059t0005 a0027c0065t0004	a0002c0003t0001g0106 a0002c0003t0001g0387 a0002c0003t0003g0276 others(123): Show a0002c0003t0001g0106 a0002c0003t0001g0387 a0002c0003t0003g0276 a0002c0003t0004g0002 a0002c0003t0004g0011 a0002c0003t0004g0021 a0002c0003t0004g0034 a0002c0003t0004g0052 a0002c0003t0004g0055 a0002c0003t0004g0115 a0002c0003t0004g0120 a0002c0003t0004g0127 a0002c0003t0004g0138 a0002c0003t0004g0139 a0002c0003t0004g0142 a0002c0003t0004g0154 a0002c0003t0004g0162 a0002c0003t0004g0168 a0002c0003t0004g0177 a0002c0003t0004g0180 a0002c0003t0004g0184 a0002c0003t0004g0207 a0002c0003t0004g0234 a0002c0003t0004g0242 a0002c0003t0004g0245 a0002c0003t0004g0251 a0002c0003t0004g0253 a0002c0003t0004g0256 a0002c0003t0004g0257 a0002c0003t0004g0262 a0002c0003t0004g0270 a0002c0003t0004g0309 a0002c0003t0004g0351 a0002c0003t0004g0359 a0002c0003t0004g0360 a0002c0003t0004g0368 a0002c0006t0001g0059 a0002c0006t0001g0203 a0002c0006t0001g0386 a0002c0006t0004g0091 a0002c0006t0004g0102 a0002c0006t0004g0114 a0002c0006t0004g0119 a0002c0006t0004g0124 a0002c0006t0004g0129 a0002c0006t0004g0150 a0002c0006t0004g0169 a0002c0006t0004g0179 a0002c0006t0004g0225 a0002c0006t0004g0226 a0002c0006t0004g0240 a0002c0006t0004g0300 a0002c0006t0004g0327 a0002c0006t0004g0337 a0002c0006t0004g0338 a0002c0006t0004g0348 a0002c0006t0004g0390 a0002c0011t0005g0016 a0002c0011t0005g0061 a0002c0011t0005g0086 a0002c0011t0005g0284 a0002c0011t0005g0319 a0002c0011t0005g0333 a0002c0011t0007g0031 a0002c0011t0007g0182 a0002c0013t0005g0043 a0002c0013t0005g0185 a0002c0013t0005g0364 a0002c0013t0007g0187 a0002c0016t0004g0111 a0002c0016t0004g0131 a0002c0016t0004g0199 a0002c0016t0004g0229 a0002c0019t0008g0040 a0002c0019t0008g0046 a0002c0019t0008g0313 a0002c0020t0005g0047 a0002c0020t0005g0073 a0002c0020t0005g0355 a0002c0023t0005g0039 a0002c0023t0005g0071 a0002c0023t0005g0072 a0002c0028t0005g0018 a0002c0028t0005g0315 a0002c0029t0004g0214 a0002c0029t0004g0232 a0002c0041t0005g0289 a0002c0046t0007g0231 a0002c0047t0005g0316 a0002c0051t0004g0216 a0002c0055t0005g0062 a0002c0057t0005g0381 a0002c0060t0004g0230 a0002c0064t0005g0067 a0002c0068t0008g0044 a0002c0069t0004g0149 a0002c0076t0004g0143 a0004c0012t0002g0172 a0004c0012t0002g0233 a0004c0012t0002g0244 a0004c0012t0002g0297 a0004c0012t0002g0328 a0004c0012t0015g0218 a0004c0017t0002g0025 a0004c0017t0002g0130 a0004c0017t0002g0183 a0004c0017t0002g0259 a0004c0058t0002g0148 a0008c0014t0005g0022 a0008c0014t0005g0152 a0008c0014t0005g0264 a0008c0014t0005g0287 a0008c0033t0005g0266 a0008c0033t0005g0336 a0009c0026t0005g0019 a0009c0026t0005g0066 a0009c0026t0005g0261 a0010c0052t0007g0093 a0010c0054t0004g0117 a0012c0038t0005g0318 a0012c0056t0005g0323 a0016c0075t0005g0065 a0017c0053t0002g0307 a0019c0045t0004g0295 a0026c0059t0005g0013 a0027c0065t0004g0030	126	390	0.3231	c.904 others(3): Show c.904G>C	p.Gly others(6): Show p.Gly302Arg	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	11/12	1028/1615	904/1302	302/433	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44859763	C C	T T	missense_variant missense_variant	MODERATE	HG01167.hp1 HG01167.hp1	a0020 a0020	a0020c0043 a0020c0043	a0020c0043t0001 a0020c0043t0001	a0020c0043t0001g0388 a0020c0043t0001g0388	1	390	0.0026	c.910 others(3): Show c.910C>T	p.Arg others(6): Show p.Arg304Cys	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	11/12	1034/1615	910/1302	304/433	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44859775	C C	T T	missense_variant missense_variant	MODERATE	HG01934.hp1 HG02109.hp2 HG01934.hp1 HG02109.hp2	a0011 a0011	a0011c0035 a0011c0035	a0011c0035t0001 a0011c0035t0001	a0011c0035t0001g0001 a0011c0035t0001g0045 a0011c0035t0001g0001 a0011c0035t0001g0045	2	390	0.0051	c.922 others(3): Show c.922C>T	p.Arg others(6): Show p.Arg308Trp	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	11/12	1046/1615	922/1302	308/433	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44859797	A A	G G	missense_variant missense_variant	MODERATE	HG00738.hp1 HG00738.hp1	a0021 a0021	a0021c0063 a0021c0063	a0021c0063t0002 a0021c0063t0002	a0021c0063t0002g0004 a0021c0063t0002g0004	1	390	0.0026	c.944 others(3): Show c.944A>G	p.Tyr others(6): Show p.Tyr315Cys	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	11/12	1068/1615	944/1302	315/433	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44859802	G G	A A	missense_variant missense_variant	MODERATE	HG03239.hp2 HG03239.hp2	a0022 a0022	a0022c0048 a0022c0048	a0022c0048t0001 a0022c0048t0001	a0022c0048t0001g0310 a0022c0048t0001g0310	1	390	0.0026	c.949 others(3): Show c.949G>A	p.Val others(6): Show p.Val317Ile	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	11/12	1073/1615	949/1302	317/433	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44859819	G G	A A	missense_variant missense_variant	MODERATE	HG02970.hp1 HG02970.hp1	a0023 a0023	a0023c0061 a0023c0061	a0023c0061t0002 a0023c0061t0002	a0023c0061t0002g0015 a0023c0061t0002g0015	1	390	0.0026	c.966 others(3): Show c.966G>A	p.Met others(6): Show p.Met322Ile	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	11/12	1090/1615	966/1302	322/433	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44862282	G G	A A	missense_variant missense_variant	MODERATE	HG02257.hp2 NA18522.hp2 HG02257.hp2 NA18522.hp2	a0012 a0012	a0012c0038 a0012c0056 a0012c0038 a0012c0056	a0012c0038t0005 a0012c0056t0005 a0012c0038t0005 a0012c0056t0005	a0012c0038t0005g0318 a0012c0056t0005g0323 a0012c0038t0005g0318 a0012c0056t0005g0323	2	390	0.0051	c.989 others(3): Show c.989G>A	p.Arg others(6): Show p.Arg330Gln	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	12/12	1113/1615	989/1302	330/433	chr22	TogoVar
ARHGAP8_chr22_44747575_44867784	44862395	A A	C C	missense_variant missense_variant	MODERATE	HG02895.hp2 HG02895.hp2	a0024 a0024	a0024c0066 a0024c0066	a0024c0066t0001 a0024c0066t0001	a0024c0066t0001g0060 a0024c0066t0001g0060	1	390	0.0026	c.110 others(4): Show c.1102A>C	p.Met others(6): Show p.Met368Leu	ARHGAP8	ENSG00000241484.10	transcript	ENST00000356099.11	protein_coding	12/12	1226/1615	1102/1302	368/433	chr22	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)