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 (≤).

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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
ADGRA1_chr10_133082924_133136675	133098722	G G	A A	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02109.hp2 HG02922.hp2 others(5): Show HG02055.hp1 HG02109.hp2 HG02922.hp2 HG02976.hp1 HG03209.hp1 HG03225.hp2 HG03579.hp1 NA20129.hp1	a0002 a0011 a0002 a0011	a0002c0005 a0002c0007 a0011c0011 a0002c0005 a0002c0007 a0011c0011	a0002c0005t0005 a0002c0005t0025 a0002c0005t0034 others(2): Show a0002c0005t0005 a0002c0005t0025 a0002c0005t0034 a0002c0007t0006 a0011c0011t0005	a0002c0005t0005g0254 a0002c0005t0005g0255 a0002c0005t0005g0256 others(5): Show a0002c0005t0005g0254 a0002c0005t0005g0255 a0002c0005t0005g0256 a0002c0005t0025g0253 a0002c0005t0034g0251 a0002c0007t0006g0352 a0002c0007t0006g0353 a0011c0011t0005g0252	8	368	0.0217	c.214 others(3): Show c.214G>A	p.Gly others(5): Show p.Gly72Ser	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	4/7	631/4264	214/1683	72/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133102832	C C	T T	missense_variant missense_variant	MODERATE	NA18946.hp1 NA19009.hp1 NA18946.hp1 NA19009.hp1	a0003 a0003	a0003c0028 a0003c0029 a0003c0028 a0003c0029	a0003c0028t0012 a0003c0029t0014 a0003c0028t0012 a0003c0029t0014	a0003c0028t0012g0046 a0003c0029t0014g0062 a0003c0028t0012g0046 a0003c0029t0014g0062	2	368	0.0054	c.391 others(3): Show c.391C>T	p.Pro others(6): Show p.Pro131Ser	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	5/7	808/4264	391/1683	131/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128471	C C	G G	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0011 a0011	a0011c0011 a0011c0011	a0011c0011t0005 a0011c0011t0005	a0011c0011t0005g0252 a0011c0011t0005g0252	1	368	0.0027	c.643 others(3): Show c.643C>G	p.Pro others(6): Show p.Pro215Ala	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1060/4264	643/1683	215/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128570	A A	T T	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0010 a0010	a0010c0026 a0010c0026	a0010c0026t0023 a0010c0026t0023	a0010c0026t0023g0109 a0010c0026t0023g0109	1	368	0.0027	c.742 others(3): Show c.742A>T	p.Asn others(6): Show p.Asn248Tyr	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1159/4264	742/1683	248/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128588	G G	T T	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0010 a0010	a0010c0026 a0010c0026	a0010c0026t0023 a0010c0026t0023	a0010c0026t0023g0109 a0010c0026t0023g0109	1	368	0.0027	c.760 others(3): Show c.760G>T	p.Ala others(6): Show p.Ala254Ser	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1177/4264	760/1683	254/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128595	T T	A A	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0010 a0010	a0010c0026 a0010c0026	a0010c0026t0023 a0010c0026t0023	a0010c0026t0023g0109 a0010c0026t0023g0109	1	368	0.0027	c.767 others(3): Show c.767T>A	p.Leu others(6): Show p.Leu256Gln	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1184/4264	767/1683	256/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128618	T T	C C	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0010 a0010	a0010c0026 a0010c0026	a0010c0026t0023 a0010c0026t0023	a0010c0026t0023g0109 a0010c0026t0023g0109	1	368	0.0027	c.790 others(3): Show c.790T>C	p.Phe others(6): Show p.Phe264Leu	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1207/4264	790/1683	264/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128633	A A	C C	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0010 a0010	a0010c0026 a0010c0026	a0010c0026t0023 a0010c0026t0023	a0010c0026t0023g0109 a0010c0026t0023g0109	1	368	0.0027	c.805 others(3): Show c.805A>C	p.Thr others(6): Show p.Thr269Pro	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1222/4264	805/1683	269/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128649	C C	T T	missense_variant missense_variant	MODERATE	NA19057.hp2 NA19057.hp2	a0009 a0009	a0009c0025 a0009c0025	a0009c0025t0002 a0009c0025t0002	a0009c0025t0002g0139 a0009c0025t0002g0139	1	368	0.0027	c.821 others(3): Show c.821C>T	p.Ala others(6): Show p.Ala274Val	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1238/4264	821/1683	274/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128658	T T	G G	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0010 a0010	a0010c0026 a0010c0026	a0010c0026t0023 a0010c0026t0023	a0010c0026t0023g0109 a0010c0026t0023g0109	1	368	0.0027	c.830 others(3): Show c.830T>G	p.Val others(6): Show p.Val277Gly	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1247/4264	830/1683	277/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128715	T T	A A	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0010 a0010	a0010c0026 a0010c0026	a0010c0026t0023 a0010c0026t0023	a0010c0026t0023g0109 a0010c0026t0023g0109	1	368	0.0027	c.887 others(3): Show c.887T>A	p.Val others(6): Show p.Val296Glu	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1304/4264	887/1683	296/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128738	A A	C C	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0010 a0010	a0010c0026 a0010c0026	a0010c0026t0023 a0010c0026t0023	a0010c0026t0023g0109 a0010c0026t0023g0109	1	368	0.0027	c.910 others(3): Show c.910A>C	p.Ile others(6): Show p.Ile304Leu	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1327/4264	910/1683	304/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128739	T T	A A	missense_variant missense_variant	MODERATE	NA19009.hp2 NA19009.hp2	a0010 a0010	a0010c0026 a0010c0026	a0010c0026t0023 a0010c0026t0023	a0010c0026t0023g0109 a0010c0026t0023g0109	1	368	0.0027	c.911 others(3): Show c.911T>A	p.Ile others(6): Show p.Ile304Asn	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1328/4264	911/1683	304/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133128999	C C	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG01884.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0065 a0008c0013t0065	a0008c0013t0065g0257 a0008c0013t0065g0257	1	368	0.0027	c.117 others(4): Show c.1171C>A	p.Pro others(6): Show p.Pro391Thr	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1588/4264	1171/1683	391/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133129183	G G	A A	missense_variant missense_variant	MODERATE	NA19070.hp2 NA19070.hp2	a0004 a0004	a0004c0014 a0004c0014	a0004c0014t0012 a0004c0014t0012	a0004c0014t0012g0140 a0004c0014t0012g0140	1	368	0.0027	c.135 others(4): Show c.1355G>A	p.Arg others(6): Show p.Arg452His	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1772/4264	1355/1683	452/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133129194	C C	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp1	a0007 a0007	a0007c0020 a0007c0020	a0007c0020t0001 a0007c0020t0001	a0007c0020t0001g0092 a0007c0020t0001g0092	1	368	0.0027	c.136 others(4): Show c.1366C>A	p.Pro others(6): Show p.Pro456Thr	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1783/4264	1366/1683	456/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133129278	C C	T T	missense_variant missense_variant	MODERATE	HG03486.hp2 HG03486.hp2	a0006 a0006	a0006c0022 a0006c0022	a0006c0022t0001 a0006c0022t0001	a0006c0022t0001g0056 a0006c0022t0001g0056	1	368	0.0027	c.145 others(4): Show c.1450C>T	p.Pro others(6): Show p.Pro484Ser	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	1867/4264	1450/1683	484/560	chr10	TogoVar
ADGRA1_chr10_133082924_133136675	133129461	G G	T T	missense_variant missense_variant	MODERATE	NA19012.hp2 NA19012.hp2	a0005 a0005	a0005c0021 a0005c0021	a0005c0021t0001 a0005c0021t0001	a0005c0021t0001g0259 a0005c0021t0001g0259	1	368	0.0027	c.163 others(4): Show c.1633G>T	p.Gly others(6): Show p.Gly545Trp	ADGRA1	ENSG00000197177.16	transcript	ENST00000392607.8	protein_coding	7/7	2050/4264	1633/1683	545/560	chr10	TogoVar
ADGRA2_chr8_37791883_37849896	37797389	A A	G G	missense_variant missense_variant	MODERATE	HG02257.hp2 HG02572.hp1 HG02615.hp1 others(4): Show HG02257.hp2 HG02572.hp1 HG02615.hp1 HG02809.hp2 HG03486.hp1 HG03540.hp2 NA19240.hp1	a0005 a0005	a0005c0014 a0005c0043 a0005c0044 others(1): Show a0005c0014 a0005c0043 a0005c0044 a0005c0045	a0005c0014t0002 a0005c0014t0005 a0005c0014t0007 others(3): Show a0005c0014t0002 a0005c0014t0005 a0005c0014t0007 a0005c0043t0004 a0005c0044t0001 a0005c0045t0001	a0005c0014t0002g0157 a0005c0014t0002g0158 a0005c0014t0005g0155 others(4): Show a0005c0014t0002g0157 a0005c0014t0002g0158 a0005c0014t0005g0155 a0005c0014t0007g0188 a0005c0043t0004g0156 a0005c0044t0001g0159 a0005c0045t0001g0154	7	370	0.0189	c.121 others(3): Show c.121A>G	p.Ile others(5): Show p.Ile41Val	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	1/19	507/6944	121/4017	41/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37831448	G G	A A	missense_variant missense_variant	MODERATE	NA20752.hp2 NA20752.hp2	a0011 a0011	a0011c0021 a0011c0021	a0011c0021t0001 a0011c0021t0001	a0011c0021t0001g0136 a0011c0021t0001g0136	1	370	0.0027	c.958 others(3): Show c.958G>A	p.Val others(6): Show p.Val320Met	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	8/19	1344/6944	958/4017	320/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37831553	G G	A A	missense_variant missense_variant	MODERATE	HG03669.hp2 HG03669.hp2	a0023 a0023	a0023c0022 a0023c0022	a0023c0022t0001 a0023c0022t0001	a0023c0022t0001g0346 a0023c0022t0001g0346	1	370	0.0027	c.106 others(4): Show c.1063G>A	p.Ala others(6): Show p.Ala355Thr	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	8/19	1449/6944	1063/4017	355/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37833083	G G	A A	missense_variant missense_variant	MODERATE	HG00735.hp1 HG00735.hp1	a0022 a0022	a0022c0023 a0022c0023	a0022c0023t0001 a0022c0023t0001	a0022c0023t0001g0271 a0022c0023t0001g0271	1	370	0.0027	c.117 others(4): Show c.1171G>A	p.Gly others(6): Show p.Gly391Ser	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	9/19	1557/6944	1171/4017	391/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37833086	G G	A A	missense_variant missense_variant	MODERATE	HG01358.hp1 HG01358.hp1	a0021 a0021	a0021c0024 a0021c0024	a0021c0024t0001 a0021c0024t0001	a0021c0024t0001g0118 a0021c0024t0001g0118	1	370	0.0027	c.117 others(4): Show c.1174G>A	p.Gly others(6): Show p.Gly392Arg	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	9/19	1560/6944	1174/4017	392/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37833785	A A	G G	missense_variant missense_variant	MODERATE	HG01257.hp1 HG01257.hp1	a0012 a0012	a0012c0037 a0012c0037	a0012c0037t0001 a0012c0037t0001	a0012c0037t0001g0080 a0012c0037t0001g0080	1	370	0.0027	c.139 others(4): Show c.1394A>G	p.Tyr others(6): Show p.Tyr465Cys	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	10/19	1780/6944	1394/4017	465/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37833812	T T	G G	missense_variant missense_variant	MODERATE	NA18943.hp1 NA18943.hp1	a0020 a0020	a0020c0026 a0020c0026	a0020c0026t0016 a0020c0026t0016	a0020c0026t0016g0022 a0020c0026t0016g0022	1	370	0.0027	c.142 others(4): Show c.1421T>G	p.Leu others(6): Show p.Leu474Trp	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	10/19	1807/6944	1421/4017	474/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37835186	G G	A A	missense_variant missense_variant	MODERATE	HG00735.hp2 HG00735.hp2	a0013 a0013	a0013c0028 a0013c0028	a0013c0028t0001 a0013c0028t0001	a0013c0028t0001g0186 a0013c0028t0001g0186	1	370	0.0027	c.162 others(4): Show c.1621G>A	p.Val others(6): Show p.Val541Met	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	12/19	2007/6944	1621/4017	541/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37835213	C C	T T	missense_variant missense_variant	MODERATE	HG03654.hp2 HG03654.hp2	a0019 a0019	a0019c0036 a0019c0036	a0019c0036t0001 a0019c0036t0001	a0019c0036t0001g0013 a0019c0036t0001g0013	1	370	0.0027	c.164 others(4): Show c.1648C>T	p.Pro others(6): Show p.Pro550Ser	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	12/19	2034/6944	1648/4017	550/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37835761	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp2 HG03098.hp2 HG03486.hp2 others(2): Show HG01884.hp2 HG03098.hp2 HG03486.hp2 HG03490.hp2 HG03492.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0001 a0007c0009t0001	a0007c0009t0001g0107 a0007c0009t0001g0108 a0007c0009t0001g0129 others(2): Show a0007c0009t0001g0107 a0007c0009t0001g0108 a0007c0009t0001g0129 a0007c0009t0001g0226 a0007c0009t0001g0227	5	370	0.0135	c.204 others(4): Show c.2041G>A	p.Ala others(6): Show p.Ala681Thr	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	13/19	2427/6944	2041/4017	681/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37837875	G G	A A	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0014 a0014	a0014c0039 a0014c0039	a0014c0039t0001 a0014c0039t0001	a0014c0039t0001g0369 a0014c0039t0001g0369	1	370	0.0027	c.219 others(4): Show c.2195G>A	p.Arg others(6): Show p.Arg732His	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	14/19	2581/6944	2195/4017	732/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37838989	G G	A A	missense_variant missense_variant	MODERATE	HG02809.hp1 HG02809.hp1	a0018 a0018	a0018c0029 a0018c0029	a0018c0029t0001 a0018c0029t0001	a0018c0029t0001g0314 a0018c0029t0001g0314	1	370	0.0027	c.229 others(4): Show c.2293G>A	p.Ala others(6): Show p.Ala765Thr	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	15/19	2679/6944	2293/4017	765/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37841384	G G	C C	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02280.hp2 HG02572.hp2 others(3): Show HG02055.hp1 HG02280.hp2 HG02572.hp2 HG03139.hp2 HG03209.hp2 HG03579.hp1	a0006 a0006	a0006c0008 a0006c0030 a0006c0008 a0006c0030	a0006c0008t0001 a0006c0030t0001 a0006c0008t0001 a0006c0030t0001	a0006c0008t0001g0191 a0006c0008t0001g0194 a0006c0008t0001g0195 others(3): Show a0006c0008t0001g0191 a0006c0008t0001g0194 a0006c0008t0001g0195 a0006c0008t0001g0196 a0006c0008t0001g0319 a0006c0030t0001g0189	6	370	0.0162	c.304 others(4): Show c.3046G>C	p.Gly others(7): Show p.Gly1016Arg	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	19/19	3432/6944	3046/4017	1016/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37841588	T T	A A	missense_variant missense_variant	MODERATE	HG02451.hp1 HG03195.hp2 HG03540.hp1 HG02451.hp1 HG03195.hp2 HG03540.hp1	a0010 a0014 a0010 a0014	a0010c0025 a0010c0031 a0014c0039 a0010c0025 a0010c0031 a0014c0039	a0010c0025t0012 a0010c0031t0011 a0014c0039t0001 a0010c0025t0012 a0010c0031t0011 a0014c0039t0001	a0010c0025t0012g0002 a0010c0031t0011g0122 a0014c0039t0001g0369 a0010c0025t0012g0002 a0010c0031t0011g0122 a0014c0039t0001g0369	3	370	0.0081	c.325 others(4): Show c.3250T>A	p.Cys others(7): Show p.Cys1084Ser	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	19/19	3636/6944	3250/4017	1084/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37841663	G G	A A	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0014 a0014	a0014c0039 a0014c0039	a0014c0039t0001 a0014c0039t0001	a0014c0039t0001g0369 a0014c0039t0001g0369	1	370	0.0027	c.332 others(4): Show c.3325G>A	p.Val others(7): Show p.Val1109Met	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	19/19	3711/6944	3325/4017	1109/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37841876	C C	G G	missense_variant missense_variant	MODERATE	HG00597.hp2 HG00609.hp1 NA18972.hp2 others(6): Show HG00597.hp2 HG00609.hp1 NA18972.hp2 NA18978.hp2 NA18993.hp1 NA19064.hp2 NA19065.hp1 NA19077.hp1 NA19086.hp1	a0003 a0016 a0003 a0016	a0003c0006 a0016c0035 a0003c0006 a0016c0035	a0003c0006t0001 a0003c0006t0015 a0016c0035t0001 a0003c0006t0001 a0003c0006t0015 a0016c0035t0001	a0003c0006t0001g0015 a0003c0006t0001g0029 a0003c0006t0001g0032 others(6): Show a0003c0006t0001g0015 a0003c0006t0001g0029 a0003c0006t0001g0032 a0003c0006t0001g0036 a0003c0006t0001g0069 a0003c0006t0001g0085 a0003c0006t0001g0119 a0003c0006t0015g0087 a0016c0035t0001g0057	9	370	0.0243	c.353 others(4): Show c.3538C>G	p.Arg others(7): Show p.Arg1180Gly	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	19/19	3924/6944	3538/4017	1180/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37841925	G G	A A	missense_variant missense_variant	MODERATE	HG00544.hp2 HG02129.hp1 HG02135.hp1 others(6): Show HG00544.hp2 HG02129.hp1 HG02135.hp1 HG02165.hp2 HG04184.hp1 NA18939.hp2 NA18950.hp2 NA18970.hp1 NA19081.hp2	a0002 a0002	a0002c0007 a0002c0020 a0002c0042 a0002c0007 a0002c0020 a0002c0042	a0002c0007t0001 a0002c0007t0021 a0002c0020t0001 others(1): Show a0002c0007t0001 a0002c0007t0021 a0002c0020t0001 a0002c0042t0001	a0002c0007t0001g0064 a0002c0007t0001g0177 a0002c0007t0001g0182 others(6): Show a0002c0007t0001g0064 a0002c0007t0001g0177 a0002c0007t0001g0182 a0002c0007t0001g0184 a0002c0007t0001g0265 a0002c0007t0021g0218 a0002c0020t0001g0023 a0002c0020t0001g0095 a0002c0042t0001g0334	9	370	0.0243	c.358 others(4): Show c.3587G>A	p.Cys others(7): Show p.Cys1196Tyr	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	19/19	3973/6944	3587/4017	1196/1338	chr8	TogoVar
ADGRA2_chr8_37791883_37849896	37842282	C C	T T	missense_variant missense_variant	MODERATE	HG02074.hp2 HG02135.hp2 HG02074.hp2 HG02135.hp2	a0009 a0009	a0009c0018 a0009c0018	a0009c0018t0001 a0009c0018t0001	a0009c0018t0001g0292 a0009c0018t0001g0327 a0009c0018t0001g0292 a0009c0018t0001g0327	2	370	0.0054	c.394 others(4): Show c.3944C>T	p.Thr others(7): Show p.Thr1315Ile	ADGRA2	ENSG00000020181.18	transcript	ENST00000412232.3	protein_coding	19/19	4330/6944	3944/4017	1315/1338	chr8	TogoVar
ADGRA3_chr4_22382376_22521066	22388030	T T	G G	missense_variant missense_variant	MODERATE	HG03540.hp1 HG03540.hp1	a0013 a0013	a0013c0032 a0013c0032	a0013c0032t0001 a0013c0032t0001	a0013c0032t0001g0116 a0013c0032t0001g0116	1	290	0.0035	c.364 others(4): Show c.3641A>C	p.Asn others(7): Show p.Asn1214Thr	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	19/19	3923/4577	3641/3966	1214/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22388084	G G	C C	missense_variant missense_variant	MODERATE	HG02922.hp1 HG02922.hp1	a0012 a0012	a0012c0030 a0012c0030	a0012c0030t0001 a0012c0030t0001	a0012c0030t0001g0274 a0012c0030t0001g0274	1	290	0.0035	c.358 others(4): Show c.3587C>G	p.Thr others(7): Show p.Thr1196Arg	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	19/19	3869/4577	3587/3966	1196/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22388174	A A	C C	missense_variant missense_variant	MODERATE	HG00741.hp2 HG01255.hp2 HG01928.hp1 others(12): Show HG00741.hp2 HG01255.hp2 HG01928.hp1 HG01934.hp1 HG02135.hp1 HG02155.hp1 HG03688.hp2 HG03834.hp2 NA18946.hp1 NA18980.hp2 NA18983.hp1 NA18998.hp1 NA19007.hp1 NA19054.hp1 NA19068.hp2	a0003 a0020 a0003 a0020	a0003c0006 a0003c0010 a0020c0041 a0003c0006 a0003c0010 a0020c0041	a0003c0006t0001 a0003c0006t0002 a0003c0010t0001 others(1): Show a0003c0006t0001 a0003c0006t0002 a0003c0010t0001 a0020c0041t0001	a0003c0006t0001g0040 a0003c0006t0001g0059 a0003c0006t0001g0152 others(12): Show a0003c0006t0001g0040 a0003c0006t0001g0059 a0003c0006t0001g0152 a0003c0006t0001g0153 a0003c0006t0001g0154 a0003c0006t0001g0155 a0003c0006t0001g0157 a0003c0006t0001g0158 a0003c0006t0002g0003 a0003c0010t0001g0175 a0003c0010t0001g0176 a0003c0010t0001g0182 a0003c0010t0001g0192 a0003c0010t0001g0196 a0020c0041t0001g0281	15	290	0.0517	c.349 others(4): Show c.3497T>G	p.Val others(7): Show p.Val1166Gly	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	19/19	3779/4577	3497/3966	1166/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22388390	G G	A A	missense_variant missense_variant	MODERATE	NA18950.hp2 NA18950.hp2	a0014 a0014	a0014c0028 a0014c0028	a0014c0028t0001 a0014c0028t0001	a0014c0028t0001g0124 a0014c0028t0001g0124	1	290	0.0035	c.328 others(4): Show c.3281C>T	p.Ala others(7): Show p.Ala1094Val	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	19/19	3563/4577	3281/3966	1094/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22388426	G G	A A	missense_variant missense_variant	MODERATE	NA18954.hp1 NA18964.hp1 NA18986.hp2 others(3): Show NA18954.hp1 NA18964.hp1 NA18986.hp2 NA19006.hp1 NA19057.hp1 NA19078.hp1	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0058 a0006c0009t0001g0071 a0006c0009t0001g0163 others(3): Show a0006c0009t0001g0058 a0006c0009t0001g0071 a0006c0009t0001g0163 a0006c0009t0001g0172 a0006c0009t0001g0173 a0006c0009t0001g0191	6	290	0.0207	c.324 others(4): Show c.3245C>T	p.Thr others(7): Show p.Thr1082Met	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	19/19	3527/4577	3245/3966	1082/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22388544	C C	T T	missense_variant missense_variant	MODERATE	HG00140.hp2 HG00544.hp1 HG00597.hp1 others(93): Show HG00140.hp2 HG00544.hp1 HG00597.hp1 HG00621.hp2 HG00733.hp1 HG00733.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01106.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01255.hp1 HG01258.hp2 HG01361.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG02040.hp1 HG02071.hp2 HG02074.hp2 HG02109.hp2 HG02135.hp2 HG02257.hp1 HG02258.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02523.hp2 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp1 HG03017.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03195.hp2 HG03225.hp1 HG03453.hp1 HG03516.hp2 HG03654.hp2 HG03688.hp1 HG03704.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG04228.hp2 NA18612.hp1 NA18906.hp2 NA18944.hp2 NA18945.hp2 NA18951.hp2 NA18954.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18972.hp1 NA18975.hp2 NA18977.hp2 NA18986.hp2 NA19004.hp2 NA19005.hp1 NA19006.hp1 NA19030.hp2 NA19043.hp2 NA19055.hp1 NA19055.hp2 NA19057.hp1 NA19074.hp2 NA19078.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19091.hp2 NA19240.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2	a0002 a0006 a0009 others(3): Show a0002 a0006 a0009 a0010 a0012 a0016	a0002c0003 a0002c0004 a0002c0005 others(9): Show a0002c0003 a0002c0004 a0002c0005 a0002c0008 a0002c0014 a0002c0017 a0002c0026 a0006c0009 a0009c0016 a0010c0019 a0012c0030 a0016c0023	a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 others(14): Show a0002c0003t0001 a0002c0003t0002 a0002c0004t0001 a0002c0004t0002 a0002c0005t0001 a0002c0005t0010 a0002c0008t0001 a0002c0014t0001 a0002c0014t0003 a0002c0017t0001 a0002c0026t0001 a0006c0009t0001 a0009c0016t0001 a0009c0016t0006 a0010c0019t0001 a0012c0030t0001 a0016c0023t0001	a0002c0003t0001g0001 a0002c0003t0001g0029 a0002c0003t0001g0030 others(92): Show a0002c0003t0001g0001 a0002c0003t0001g0029 a0002c0003t0001g0030 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0089 a0002c0003t0001g0100 a0002c0003t0001g0101 a0002c0003t0001g0115 a0002c0003t0001g0118 a0002c0003t0001g0129 a0002c0003t0001g0130 a0002c0003t0001g0133 a0002c0003t0001g0135 a0002c0003t0001g0138 a0002c0003t0001g0170 a0002c0003t0001g0177 a0002c0003t0001g0179 a0002c0003t0001g0201 a0002c0003t0001g0217 a0002c0003t0001g0222 a0002c0003t0001g0228 a0002c0003t0001g0230 a0002c0003t0001g0238 a0002c0003t0001g0254 a0002c0003t0002g0017 a0002c0004t0001g0021 a0002c0004t0001g0025 a0002c0004t0001g0032 a0002c0004t0001g0054 a0002c0004t0001g0060 a0002c0004t0001g0068 a0002c0004t0001g0073 a0002c0004t0001g0074 a0002c0004t0001g0104 a0002c0004t0001g0105 a0002c0004t0001g0106 a0002c0004t0001g0151 a0002c0004t0001g0162 a0002c0004t0001g0166 a0002c0004t0001g0185 a0002c0004t0001g0186 a0002c0004t0001g0190 a0002c0004t0001g0204 a0002c0004t0001g0207 a0002c0004t0001g0224 a0002c0004t0001g0227 a0002c0004t0001g0267 a0002c0004t0002g0013 a0002c0005t0001g0031 a0002c0005t0001g0075 a0002c0005t0001g0099 a0002c0005t0001g0102 a0002c0005t0001g0119 a0002c0005t0001g0141 a0002c0005t0001g0149 a0002c0005t0001g0183 a0002c0005t0001g0206 a0002c0005t0001g0214 a0002c0005t0001g0218 a0002c0005t0001g0232 a0002c0005t0001g0239 a0002c0005t0001g0245 a0002c0005t0001g0246 a0002c0005t0001g0247 a0002c0005t0001g0256 a0002c0005t0001g0257 a0002c0005t0001g0259 a0002c0005t0001g0263 a0002c0005t0010g0289 a0002c0008t0001g0067 a0002c0008t0001g0080 a0002c0008t0001g0156 a0002c0008t0001g0165 a0002c0008t0001g0194 a0002c0008t0001g0237 a0002c0014t0001g0033 a0002c0014t0003g0285 a0002c0014t0003g0286 a0002c0017t0001g0180 a0002c0017t0001g0193 a0002c0026t0001g0205 a0006c0009t0001g0058 a0006c0009t0001g0071 a0006c0009t0001g0163 a0006c0009t0001g0172 a0006c0009t0001g0173 a0006c0009t0001g0191 a0009c0016t0001g0219 a0009c0016t0006g0077 a0010c0019t0001g0279 a0010c0019t0001g0282 a0012c0030t0001g0274 a0016c0023t0001g0236	96	290	0.3310	c.312 others(4): Show c.3127G>A	p.Val others(7): Show p.Val1043Met	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	19/19	3409/4577	3127/3966	1043/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22388627	A A	G G	missense_variant missense_variant	MODERATE	NA19080.hp2 NA19080.hp2	a0015 a0015	a0015c0027 a0015c0027	a0015c0027t0001 a0015c0027t0001	a0015c0027t0001g0142 a0015c0027t0001g0142	1	290	0.0035	c.304 others(4): Show c.3044T>C	p.Leu others(7): Show p.Leu1015Ser	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	19/19	3326/4577	3044/3966	1015/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22392573	G G	T T	missense_variant missense_variant	MODERATE	HG02071.hp2 HG02071.hp2	a0016 a0016	a0016c0023 a0016c0023	a0016c0023t0001 a0016c0023t0001	a0016c0023t0001g0236 a0016c0023t0001g0236	1	290	0.0035	c.259 others(4): Show c.2599C>A	p.Pro others(6): Show p.Pro867Thr	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	17/19	2881/4577	2599/3966	867/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22392616	T T	G G	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00423.hp2 HG02132.hp1 others(9): Show HG00408.hp1 HG00423.hp2 HG02132.hp1 HG02602.hp2 HG03927.hp1 NA18950.hp1 NA18959.hp2 NA18986.hp1 NA19009.hp1 NA19010.hp2 NA19076.hp1 NA19088.hp1	a0004 a0007 a0004 a0007	a0004c0007 a0004c0021 a0007c0012 a0004c0007 a0004c0021 a0007c0012	a0004c0007t0002 a0004c0021t0001 a0007c0012t0001 a0004c0007t0002 a0004c0021t0001 a0007c0012t0001	a0004c0007t0002g0004 a0004c0007t0002g0005 a0004c0007t0002g0006 others(9): Show a0004c0007t0002g0004 a0004c0007t0002g0005 a0004c0007t0002g0006 a0004c0007t0002g0010 a0004c0007t0002g0011 a0004c0007t0002g0012 a0004c0007t0002g0015 a0004c0021t0001g0019 a0007c0012t0001g0083 a0007c0012t0001g0150 a0007c0012t0001g0160 a0007c0012t0001g0268	12	290	0.0414	c.255 others(4): Show c.2556A>C	p.Lys others(6): Show p.Lys852Asn	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	17/19	2838/4577	2556/3966	852/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22402768	G G	A A	missense_variant missense_variant	MODERATE	HG00423.hp2 HG02132.hp1 HG02602.hp2 others(15): Show HG00423.hp2 HG02132.hp1 HG02602.hp2 HG02723.hp2 HG02886.hp2 HG03098.hp1 HG03486.hp1 HG03540.hp2 HG03927.hp1 HG04199.hp2 NA18906.hp1 NA18950.hp1 NA18969.hp1 NA19009.hp1 NA19010.hp2 NA19043.hp2 NA19088.hp1 NA20129.hp1	a0004 a0005 a0009 others(1): Show a0004 a0005 a0009 a0017	a0004c0007 a0004c0021 a0005c0013 others(5): Show a0004c0007 a0004c0021 a0005c0013 a0005c0024 a0005c0033 a0005c0034 a0009c0016 a0017c0036	a0004c0007t0002 a0004c0021t0001 a0005c0013t0001 others(6): Show a0004c0007t0002 a0004c0021t0001 a0005c0013t0001 a0005c0024t0007 a0005c0033t0001 a0005c0034t0002 a0009c0016t0001 a0009c0016t0006 a0017c0036t0001	a0004c0007t0002g0004 a0004c0007t0002g0005 a0004c0007t0002g0006 others(15): Show a0004c0007t0002g0004 a0004c0007t0002g0005 a0004c0007t0002g0006 a0004c0007t0002g0010 a0004c0007t0002g0011 a0004c0007t0002g0012 a0004c0007t0002g0015 a0004c0021t0001g0019 a0005c0013t0001g0020 a0005c0013t0001g0052 a0005c0013t0001g0202 a0005c0013t0001g0244 a0005c0024t0007g0117 a0005c0033t0001g0253 a0005c0034t0002g0008 a0009c0016t0001g0219 a0009c0016t0006g0077 a0017c0036t0001g0091	18	290	0.0621	c.226 others(4): Show c.2264C>T	p.Ala others(6): Show p.Ala755Val	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	15/19	2546/4577	2264/3966	755/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22424270	T T	A A	missense_variant missense_variant	MODERATE	HG02965.hp2 HG02965.hp2	a0018 a0018	a0018c0037 a0018c0037	a0018c0037t0001 a0018c0037t0001	a0018c0037t0001g0260 a0018c0037t0001g0260	1	290	0.0035	c.152 others(4): Show c.1526A>T	p.Lys others(6): Show p.Lys509Ile	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	11/19	1808/4577	1526/3966	509/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22445050	C C	T T	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02723.hp2	a0017 a0017	a0017c0036 a0017c0036	a0017c0036t0001 a0017c0036t0001	a0017c0036t0001g0091 a0017c0036t0001g0091	1	290	0.0035	c.629 others(3): Show c.629G>A	p.Arg others(6): Show p.Arg210Gln	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	6/19	911/4577	629/3966	210/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22445080	C C	T T	missense_variant missense_variant	MODERATE	NA18963.hp1 NA18963.hp1	a0011 a0011	a0011c0022 a0011c0022	a0011c0022t0001 a0011c0022t0001	a0011c0022t0001g0137 a0011c0022t0001g0137	1	290	0.0035	c.599 others(3): Show c.599G>A	p.Arg others(6): Show p.Arg200His	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	6/19	881/4577	599/3966	200/1321	chr4	TogoVar
ADGRA3_chr4_22382376_22521066	22454918	T T	A A	missense_variant missense_variant	MODERATE	HG02723.hp2 HG02965.hp2 HG02723.hp2 HG02965.hp2	a0017 a0018 a0017 a0018	a0017c0036 a0018c0037 a0017c0036 a0018c0037	a0017c0036t0001 a0018c0037t0001 a0017c0036t0001 a0018c0037t0001	a0017c0036t0001g0091 a0018c0037t0001g0260 a0017c0036t0001g0091 a0018c0037t0001g0260	2	290	0.0069	c.421 others(3): Show c.421A>T	p.Ile others(6): Show p.Ile141Leu	ADGRA3	ENSG00000152990.14	transcript	ENST00000334304.10	protein_coding	4/19	703/4577	421/3966	141/1321	chr4	TogoVar

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