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
ADPRHL1_chr13_113394611_113458488	113404628	C C	T T	missense_variant missense_variant	MODERATE	NA21309.hp2 NA21309.hp2	a0037 a0037	a0037c0033 a0037c0033	a0037c0033t0034 a0037c0033t0034	a0037c0033t0034g0073 a0037c0033t0034g0073	1	262	0.0038	c.465 others(4): Show c.4654G>A	p.Ala others(7): Show p.Ala1552Thr	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	4705/9722	4654/5904	1552/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113404909	G G	A A	missense_variant missense_variant	MODERATE	HG02055.hp1 HG02559.hp2 HG02809.hp2 others(3): Show HG02055.hp1 HG02559.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp1 NA19240.hp1	a0006 a0029 a0006 a0029	a0006c0007 a0029c0040 a0006c0007 a0029c0040	a0006c0007t0013 a0006c0007t0108 a0006c0007t0110 others(1): Show a0006c0007t0013 a0006c0007t0108 a0006c0007t0110 a0029c0040t0109	a0006c0007t0013g0056 a0006c0007t0013g0213 a0006c0007t0013g0241 others(3): Show a0006c0007t0013g0056 a0006c0007t0013g0213 a0006c0007t0013g0241 a0006c0007t0108g0066 a0006c0007t0110g0246 a0029c0040t0109g0070	6	262	0.0229	c.437 others(4): Show c.4373C>T	p.Ala others(7): Show p.Ala1458Val	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	4424/9722	4373/5904	1458/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113404925	G G	A A	missense_variant missense_variant	MODERATE	HG02135.hp2 HG02135.hp2	a0045 a0045	a0045c0060 a0045c0060	a0045c0060t0112 a0045c0060t0112	a0045c0060t0112g0179 a0045c0060t0112g0179	1	262	0.0038	c.435 others(4): Show c.4357C>T	p.Arg others(7): Show p.Arg1453Trp	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	4408/9722	4357/5904	1453/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113405012	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG01074.hp1 HG01167.hp1 others(20): Show HG00099.hp1 HG01074.hp1 HG01167.hp1 HG01168.hp2 HG01169.hp2 HG01516.hp1 HG01891.hp2 HG01934.hp1 HG01975.hp2 HG02135.hp2 HG02148.hp1 HG02451.hp1 HG02572.hp1 HG02630.hp2 HG02735.hp2 HG02738.hp2 HG03041.hp1 HG03516.hp1 HG06807.hp2 NA18522.hp2 NA19030.hp1 NA19240.hp2 NA20752.hp2	a0003 a0018 a0030 others(2): Show a0003 a0018 a0030 a0041 a0045	a0003c0003 a0003c0015 a0018c0063 others(3): Show a0003c0003 a0003c0015 a0018c0063 a0030c0036 a0041c0035 a0045c0060	a0003c0003t0008 a0003c0003t0009 a0003c0003t0022 others(13): Show a0003c0003t0008 a0003c0003t0009 a0003c0003t0022 a0003c0003t0023 a0003c0003t0089 a0003c0003t0090 a0003c0003t0093 a0003c0003t0094 a0003c0003t0095 a0003c0003t0096 a0003c0015t0009 a0003c0015t0087 a0018c0063t0088 a0030c0036t0092 a0041c0035t0091 a0045c0060t0112	a0003c0003t0008g0027 a0003c0003t0008g0105 a0003c0003t0008g0236 others(20): Show a0003c0003t0008g0027 a0003c0003t0008g0105 a0003c0003t0008g0236 a0003c0003t0008g0251 a0003c0003t0008g0252 a0003c0003t0009g0035 a0003c0003t0009g0161 a0003c0003t0022g0191 a0003c0003t0022g0243 a0003c0003t0023g0247 a0003c0003t0023g0250 a0003c0003t0089g0249 a0003c0003t0090g0242 a0003c0003t0093g0248 a0003c0003t0094g0074 a0003c0003t0095g0194 a0003c0003t0096g0193 a0003c0015t0009g0118 a0003c0015t0087g0030 a0018c0063t0088g0228 a0030c0036t0092g0163 a0041c0035t0091g0239 a0045c0060t0112g0179	23	262	0.0878	c.427 others(4): Show c.4270G>A	p.Gly others(7): Show p.Gly1424Arg	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	4321/9722	4270/5904	1424/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113405192	C C	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00280.hp1 HG00639.hp2 others(30): Show HG00099.hp2 HG00280.hp1 HG00639.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp2 HG01256.hp1 HG01257.hp2 HG01258.hp1 HG02055.hp1 HG02109.hp1 HG02145.hp2 HG02280.hp2 HG02451.hp2 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02809.hp2 HG02886.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03209.hp2 HG03225.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp2 NA19030.hp2 NA19240.hp1	a0004 a0006 a0007 others(5): Show a0004 a0006 a0007 a0010 a0015 a0028 a0029 a0038	a0004c0005 a0004c0008 a0004c0019 others(7): Show a0004c0005 a0004c0008 a0004c0019 a0006c0007 a0007c0009 a0010c0010 a0015c0014 a0028c0039 a0029c0040 a0038c0041	a0004c0005t0012 a0004c0005t0024 a0004c0005t0099 others(21): Show a0004c0005t0012 a0004c0005t0024 a0004c0005t0099 a0004c0005t0100 a0004c0005t0102 a0004c0005t0103 a0004c0005t0104 a0004c0005t0105 a0004c0005t0106 a0004c0008t0012 a0004c0008t0101 a0004c0008t0107 a0004c0019t0097 a0004c0019t0098 a0006c0007t0013 a0006c0007t0108 a0006c0007t0110 a0007c0009t0011 a0007c0009t0111 a0010c0010t0010 a0015c0014t0025 a0028c0039t0086 a0029c0040t0109 a0038c0041t0040	a0004c0005t0012g0076 a0004c0005t0024g0062 a0004c0005t0024g0071 others(30): Show a0004c0005t0012g0076 a0004c0005t0024g0062 a0004c0005t0024g0071 a0004c0005t0099g0085 a0004c0005t0100g0080 a0004c0005t0102g0254 a0004c0005t0103g0253 a0004c0005t0104g0255 a0004c0005t0105g0063 a0004c0005t0106g0192 a0004c0008t0012g0010 a0004c0008t0012g0011 a0004c0008t0101g0008 a0004c0008t0107g0013 a0004c0019t0097g0055 a0004c0019t0098g0112 a0006c0007t0013g0056 a0006c0007t0013g0213 a0006c0007t0013g0241 a0006c0007t0108g0066 a0006c0007t0110g0246 a0007c0009t0011g0116 a0007c0009t0011g0121 a0007c0009t0011g0173 a0007c0009t0111g0211 a0010c0010t0010g0144 a0010c0010t0010g0145 a0010c0010t0010g0146 a0015c0014t0025g0060 a0015c0014t0025g0230 a0028c0039t0086g0171 a0029c0040t0109g0070 a0038c0041t0040g0061	33	262	0.1260	c.409 others(4): Show c.4090G>T	p.Ala others(7): Show p.Ala1364Ser	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	4141/9722	4090/5904	1364/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113405221	C C	G G	missense_variant missense_variant	MODERATE	HG01358.hp2 HG02055.hp2 HG03130.hp2 others(4): Show HG01358.hp2 HG02055.hp2 HG03130.hp2 HG03669.hp2 NA18999.hp1 NA20300.hp2 NA20905.hp2	a0008 a0013 a0014 a0008 a0013 a0014	a0008c0013 a0013c0016 a0014c0048 others(1): Show a0008c0013 a0013c0016 a0014c0048 a0014c0061	a0008c0013t0035 a0008c0013t0036 a0008c0013t0039 others(3): Show a0008c0013t0035 a0008c0013t0036 a0008c0013t0039 a0013c0016t0014 a0014c0048t0037 a0014c0061t0038	a0008c0013t0035g0078 a0008c0013t0036g0015 a0008c0013t0039g0069 others(4): Show a0008c0013t0035g0078 a0008c0013t0036g0015 a0008c0013t0039g0069 a0013c0016t0014g0100 a0013c0016t0014g0101 a0014c0048t0037g0127 a0014c0061t0038g0155	7	262	0.0267	c.406 others(4): Show c.4061G>C	p.Arg others(7): Show p.Arg1354Pro	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	4112/9722	4061/5904	1354/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113405654	G G	A A	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0030 a0030	a0030c0036 a0030c0036	a0030c0036t0092 a0030c0036t0092	a0030c0036t0092g0163 a0030c0036t0092g0163	1	262	0.0038	c.362 others(4): Show c.3628C>T	p.Arg others(7): Show p.Arg1210Cys	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	3679/9722	3628/5904	1210/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113405687	C C	T T	missense_variant missense_variant	MODERATE	HG02886.hp2 HG02886.hp2	a0029 a0029	a0029c0040 a0029c0040	a0029c0040t0109 a0029c0040t0109	a0029c0040t0109g0070 a0029c0040t0109g0070	1	262	0.0038	c.359 others(4): Show c.3595G>A	p.Val others(7): Show p.Val1199Ile	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	3646/9722	3595/5904	1199/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113406136	C C	T T	missense_variant missense_variant	MODERATE	HG01071.hp2 HG01243.hp1 HG02280.hp2 others(3): Show HG01071.hp2 HG01243.hp1 HG02280.hp2 HG03669.hp2 NA19030.hp2 NA20905.hp2	a0013 a0015 a0027 others(1): Show a0013 a0015 a0027 a0028	a0013c0016 a0015c0014 a0027c0032 others(1): Show a0013c0016 a0015c0014 a0027c0032 a0028c0039	a0013c0016t0014 a0015c0014t0025 a0027c0032t0027 others(1): Show a0013c0016t0014 a0015c0014t0025 a0027c0032t0027 a0028c0039t0086	a0013c0016t0014g0100 a0013c0016t0014g0101 a0015c0014t0025g0060 others(3): Show a0013c0016t0014g0100 a0013c0016t0014g0101 a0015c0014t0025g0060 a0015c0014t0025g0230 a0027c0032t0027g0122 a0028c0039t0086g0171	6	262	0.0229	c.314 others(4): Show c.3146G>A	p.Arg others(7): Show p.Arg1049His	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	3197/9722	3146/5904	1049/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113406141	C C	A A	missense_variant missense_variant	MODERATE	NA19091.hp1 NA19091.hp1	a0048 a0048	a0048c0026 a0048c0026	a0048c0026t0032 a0048c0026t0032	a0048c0026t0032g0141 a0048c0026t0032g0141	1	262	0.0038	c.314 others(4): Show c.3141G>T	p.Lys others(7): Show p.Lys1047Asn	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	3192/9722	3141/5904	1047/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113406283	T T	G G	missense_variant missense_variant	MODERATE	HG01358.hp2 HG03669.hp2 NA18999.hp1 others(1): Show HG01358.hp2 HG03669.hp2 NA18999.hp1 NA20905.hp2	a0013 a0014 a0013 a0014	a0013c0016 a0014c0048 a0014c0061 a0013c0016 a0014c0048 a0014c0061	a0013c0016t0014 a0014c0048t0037 a0014c0061t0038 a0013c0016t0014 a0014c0048t0037 a0014c0061t0038	a0013c0016t0014g0100 a0013c0016t0014g0101 a0014c0048t0037g0127 others(1): Show a0013c0016t0014g0100 a0013c0016t0014g0101 a0014c0048t0037g0127 a0014c0061t0038g0155	4	262	0.0153	c.299 others(4): Show c.2999A>C	p.Lys others(7): Show p.Lys1000Thr	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	3050/9722	2999/5904	1000/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113406332	C C	T T	missense_variant missense_variant	MODERATE	HG02148.hp2 HG02148.hp2	a0039 a0039	a0039c0038 a0039c0038	a0039c0038t0002 a0039c0038t0002	a0039c0038t0002g0050 a0039c0038t0002g0050	1	262	0.0038	c.295 others(4): Show c.2950G>A	p.Asp others(6): Show p.Asp984Asn	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	3001/9722	2950/5904	984/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113406509	G G	A A	missense_variant missense_variant	MODERATE	HG04228.hp2 HG04228.hp2	a0026 a0026	a0026c0049 a0026c0049	a0026c0049t0002 a0026c0049t0002	a0026c0049t0002g0083 a0026c0049t0002g0083	1	262	0.0038	c.277 others(4): Show c.2773C>T	p.Arg others(6): Show p.Arg925Cys	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	2824/9722	2773/5904	925/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113406509	G G	T T	missense_variant missense_variant	MODERATE	NA18612.hp1 NA18612.hp1	a0025 a0025	a0025c0050 a0025c0050	a0025c0050t0019 a0025c0050t0019	a0025c0050t0019g0025 a0025c0050t0019g0025	1	262	0.0038	c.277 others(4): Show c.2773C>A	p.Arg others(6): Show p.Arg925Ser	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	2824/9722	2773/5904	925/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113406809	C C	G G	missense_variant missense_variant	MODERATE	HG03688.hp1 HG03688.hp1	a0040 a0040	a0040c0037 a0040c0037	a0040c0037t0050 a0040c0037t0050	a0040c0037t0050g0088 a0040c0037t0050g0088	1	262	0.0038	c.247 others(4): Show c.2473G>C	p.Ala others(6): Show p.Ala825Pro	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	2524/9722	2473/5904	825/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113406851	A A	G G	missense_variant missense_variant	MODERATE	HG01168.hp2 HG01168.hp2	a0041 a0041	a0041c0035 a0041c0035	a0041c0035t0091 a0041c0035t0091	a0041c0035t0091g0239 a0041c0035t0091g0239	1	262	0.0038	c.243 others(4): Show c.2431T>C	p.Phe others(6): Show p.Phe811Leu	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	2482/9722	2431/5904	811/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113406992	T T	C C	missense_variant missense_variant	MODERATE	HG01516.hp2 HG02109.hp2 HG01516.hp2 HG02109.hp2	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0002 a0011c0018t0002	a0011c0018t0002g0227 a0011c0018t0002g0229 a0011c0018t0002g0227 a0011c0018t0002g0229	2	262	0.0076	c.229 others(4): Show c.2290A>G	p.Thr others(6): Show p.Thr764Ala	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	2341/9722	2290/5904	764/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113407067	C C	T T	missense_variant missense_variant	MODERATE	HG01071.hp2 NA19030.hp2 HG01071.hp2 NA19030.hp2	a0015 a0015	a0015c0014 a0015c0014	a0015c0014t0025 a0015c0014t0025	a0015c0014t0025g0060 a0015c0014t0025g0230 a0015c0014t0025g0060 a0015c0014t0025g0230	2	262	0.0076	c.221 others(4): Show c.2215G>A	p.Gly others(6): Show p.Gly739Arg	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	2266/9722	2215/5904	739/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113407093	G G	A A	missense_variant missense_variant	MODERATE	NA18983.hp2 NA18983.hp2	a0042 a0042	a0042c0059 a0042c0059	a0042c0059t0001 a0042c0059t0001	a0042c0059t0001g0182 a0042c0059t0001g0182	1	262	0.0038	c.218 others(4): Show c.2189C>T	p.Ala others(6): Show p.Ala730Val	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	2240/9722	2189/5904	730/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113407617	G G	T T	missense_variant missense_variant	MODERATE	HG02738.hp1 HG02738.hp1	a0043 a0043	a0043c0031 a0043c0031	a0043c0031t0070 a0043c0031t0070	a0043c0031t0070g0018 a0043c0031t0070g0018	1	262	0.0038	c.166 others(4): Show c.1665C>A	p.Phe others(6): Show p.Phe555Leu	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	1716/9722	1665/5904	555/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113407657	A A	G G	missense_variant missense_variant	MODERATE	HG01978.hp2 HG01978.hp2	a0044 a0044	a0044c0030 a0044c0030	a0044c0030t0001 a0044c0030t0001	a0044c0030t0001g0089 a0044c0030t0001g0089	1	262	0.0038	c.162 others(4): Show c.1625T>C	p.Met others(6): Show p.Met542Thr	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	1676/9722	1625/5904	542/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113407687	T T	C C	missense_variant missense_variant	MODERATE	HG02135.hp2 HG02135.hp2	a0045 a0045	a0045c0060 a0045c0060	a0045c0060t0112 a0045c0060t0112	a0045c0060t0112g0179 a0045c0060t0112g0179	1	262	0.0038	c.159 others(4): Show c.1595A>G	p.Lys others(6): Show p.Lys532Arg	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	1646/9722	1595/5904	532/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113407693	C C	T T	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0019 a0019	a0019c0028 a0019c0028	a0019c0028t0041 a0019c0028t0041	a0019c0028t0041g0260 a0019c0028t0041g0260	1	262	0.0038	c.158 others(4): Show c.1589G>A	p.Arg others(6): Show p.Arg530Gln	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	1640/9722	1589/5904	530/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113407748	C C	T T	missense_variant missense_variant	MODERATE	HG01255.hp1 HG01255.hp1	a0046 a0046	a0046c0029 a0046c0029	a0046c0029t0002 a0046c0029t0002	a0046c0029t0002g0245 a0046c0029t0002g0245	1	262	0.0038	c.153 others(4): Show c.1534G>A	p.Ala others(6): Show p.Ala512Thr	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	1585/9722	1534/5904	512/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113407778	C C	T T	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0019 a0019	a0019c0028 a0019c0028	a0019c0028t0041 a0019c0028t0041	a0019c0028t0041g0260 a0019c0028t0041g0260	1	262	0.0038	c.150 others(4): Show c.1504G>A	p.Val others(6): Show p.Val502Met	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	1555/9722	1504/5904	502/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113408021	C C	T T	missense_variant missense_variant	MODERATE	NA20805.hp2 NA20805.hp2	a0049 a0049	a0049c0025 a0049c0025	a0049c0025t0051 a0049c0025t0051	a0049c0025t0051g0183 a0049c0025t0051g0183	1	262	0.0038	c.126 others(4): Show c.1261G>A	p.Glu others(6): Show p.Glu421Lys	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	1312/9722	1261/5904	421/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113408057	C C	T T	missense_variant missense_variant	MODERATE	NA19007.hp2 NA19007.hp2	a0047 a0047	a0047c0027 a0047c0027	a0047c0027t0005 a0047c0027t0005	a0047c0027t0005g0004 a0047c0027t0005g0004	1	262	0.0038	c.122 others(4): Show c.1225G>A	p.Gly others(6): Show p.Gly409Arg	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	8/8	1276/9722	1225/5904	409/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113422857	C C	T T	missense_variant missense_variant	MODERATE	HG00099.hp2 HG01256.hp1 HG01258.hp1 HG00099.hp2 HG01256.hp1 HG01258.hp1	a0010 a0010	a0010c0010 a0010c0010	a0010c0010t0010 a0010c0010t0010	a0010c0010t0010g0144 a0010c0010t0010g0145 a0010c0010t0010g0146 a0010c0010t0010g0144 a0010c0010t0010g0145 a0010c0010t0010g0146	3	262	0.0115	c.103 others(4): Show c.1030G>A	p.Ala others(6): Show p.Ala344Thr	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	7/8	1081/9722	1030/5904	344/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113424243	A A	C C	missense_variant missense_variant	MODERATE	NA19091.hp1 NA20805.hp2 NA19091.hp1 NA20805.hp2	a0048 a0049 a0048 a0049	a0048c0026 a0049c0025 a0048c0026 a0049c0025	a0048c0026t0032 a0049c0025t0051 a0048c0026t0032 a0049c0025t0051	a0048c0026t0032g0141 a0049c0025t0051g0183 a0048c0026t0032g0141 a0049c0025t0051g0183	2	262	0.0076	c.881 others(3): Show c.881T>G	p.Leu others(6): Show p.Leu294Arg	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	6/8	932/9722	881/5904	294/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113433759	G G	A A	missense_variant missense_variant	MODERATE	HG01516.hp1 NA20129.hp1 HG01516.hp1 NA20129.hp1	a0017 a0018 a0017 a0018	a0017c0064 a0018c0063 a0017c0064 a0018c0063	a0017c0064t0063 a0018c0063t0088 a0017c0064t0063 a0018c0063t0088	a0017c0064t0063g0162 a0018c0063t0088g0228 a0017c0064t0063g0162 a0018c0063t0088g0228	2	262	0.0076	c.488 others(3): Show c.488C>T	p.Thr others(6): Show p.Thr163Ile	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	3/8	539/9722	488/5904	163/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113453256	A A	G G	missense_variant missense_variant	MODERATE	HG06807.hp1 HG06807.hp1	a0050 a0050	a0050c0023 a0050c0023	a0050c0023t0071 a0050c0023t0071	a0050c0023t0071g0014 a0050c0023t0071g0014	1	262	0.0038	c.182 others(3): Show c.182T>C	p.Met others(5): Show p.Met61Thr	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	1/8	233/9722	182/5904	61/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113453317	C C	G G	missense_variant missense_variant	MODERATE	NA20300.hp1 NA20300.hp1	a0051 a0051	a0051c0020 a0051c0020	a0051c0020t0002 a0051c0020t0002	a0051c0020t0002g0007 a0051c0020t0002g0007	1	262	0.0038	c.121 others(3): Show c.121G>C	p.Gly others(5): Show p.Gly41Arg	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	1/8	172/9722	121/5904	41/1967	chr13	TogoVar
ADPRHL1_chr13_113394611_113458488	113453418	G G	A A	missense_variant missense_variant	MODERATE	NA19000.hp1 NA19000.hp1	a0052 a0052	a0052c0067 a0052c0067	a0052c0067t0004 a0052c0067t0004	a0052c0067t0004g0261 a0052c0067t0004g0261	1	262	0.0038	c.20C others(2): Show c.20C>T	p.Ala others(4): Show p.Ala7Val	ADPRHL1	ENSG00000153531.15	transcript	ENST00000612156.3	protein_coding	1/8	71/9722	20/5904	7/1967	chr13	TogoVar
ADPRH_chr3_119574492_119594945	119582266	A A	G G	missense_variant missense_variant	MODERATE	HG00741.hp2 HG00741.hp2	a0003 a0003	a0003c0011 a0003c0011	a0003c0011t0003 a0003c0011t0003	a0003c0011t0003g0001 a0003c0011t0003g0001	1	454	0.0022	c.97A others(2): Show c.97A>G	p.Ile others(5): Show p.Ile33Val	ADPRH	ENSG00000144843.12	transcript	ENST00000357003.8	protein_coding	3/5	579/3623	97/1074	33/357	chr3	TogoVar
ADPRH_chr3_119574492_119594945	119587732	G G	A A	missense_variant missense_variant	MODERATE	NA19067.hp2 NA19088.hp2 NA19067.hp2 NA19088.hp2	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0001 a0002c0006t0001	a0002c0006t0001g0022 a0002c0006t0001g0022	2	454	0.0044	c.928 others(3): Show c.928G>A	p.Ala others(6): Show p.Ala310Thr	ADPRH	ENSG00000144843.12	transcript	ENST00000357003.8	protein_coding	5/5	1410/3623	928/1074	310/357	chr3	TogoVar
ADPRM_chr17_10692594_10716558	10704955	T T	G G	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03491.hp1	a0006 a0006	a0006c0006 a0006c0006	a0006c0006t0002 a0006c0006t0002	a0006c0006t0002g0090 a0006c0006t0002g0090	1	402	0.0025	c.29T others(2): Show c.29T>G	p.Leu others(5): Show p.Leu10Arg	ADPRM	ENSG00000170222.12	transcript	ENST00000379774.5	protein_coding	2/4	120/1534	29/1029	10/342	chr17	TogoVar
ADPRM_chr17_10692594_10716558	10704990	G G	A A	missense_variant missense_variant	MODERATE	HG03927.hp1 NA18956.hp1 NA19059.hp2 HG03927.hp1 NA18956.hp1 NA19059.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0060 a0004c0004t0006g0061 a0004c0004t0006g0062 a0004c0004t0006g0060 a0004c0004t0006g0061 a0004c0004t0006g0062	3	402	0.0075	c.64G others(2): Show c.64G>A	p.Val others(5): Show p.Val22Ile	ADPRM	ENSG00000170222.12	transcript	ENST00000379774.5	protein_coding	2/4	155/1534	64/1029	22/342	chr17	TogoVar
ADPRM_chr17_10692594_10716558	10705201	T T	G G	missense_variant missense_variant	MODERATE	HG00738.hp2 HG02027.hp2 HG03239.hp1 others(2): Show HG00738.hp2 HG02027.hp2 HG03239.hp1 HG04204.hp2 NA20805.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0002 a0003c0003t0002	a0003c0003t0002g0002 a0003c0003t0002g0003 a0003c0003t0002g0002 a0003c0003t0002g0003	5	402	0.0124	c.275 others(3): Show c.275T>G	p.Leu others(5): Show p.Leu92Arg	ADPRM	ENSG00000170222.12	transcript	ENST00000379774.5	protein_coding	2/4	366/1534	275/1029	92/342	chr17	TogoVar
ADPRM_chr17_10692594_10716558	10705211	C C	G G	missense_variant missense_variant	MODERATE	HG02809.hp2 HG02809.hp2	a0005 a0005	a0005c0009 a0005c0009	a0005c0009t0002 a0005c0009t0002	a0005c0009t0002g0002 a0005c0009t0002g0002	1	402	0.0025	c.285 others(3): Show c.285C>G	p.Asp others(5): Show p.Asp95Glu	ADPRM	ENSG00000170222.12	transcript	ENST00000379774.5	protein_coding	2/4	376/1534	285/1029	95/342	chr17	TogoVar
ADPRM_chr17_10692594_10716558	10711125	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(173): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00408.hp1 HG00438.hp1 HG00621.hp1 HG00639.hp1 HG00639.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01070.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01109.hp2 HG01167.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp1 HG01256.hp2 HG01358.hp2 HG01361.hp2 HG01516.hp2 HG01884.hp1 HG01952.hp1 HG01975.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02074.hp1 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02132.hp1 HG02135.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp2 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02683.hp2 HG02698.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03239.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03490.hp2 HG03491.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp2 HG03710.hp2 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG04228.hp1 NA18522.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18943.hp1 NA18944.hp2 NA18947.hp1 NA18952.hp1 NA18953.hp1 NA18954.hp2 NA18957.hp2 NA18961.hp2 NA18965.hp2 NA18970.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp1 NA18979.hp2 NA18980.hp1 NA18981.hp1 NA18982.hp2 NA18990.hp1 NA18991.hp1 NA18993.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp2 NA18998.hp1 NA19002.hp1 NA19003.hp2 NA19007.hp2 NA19012.hp2 NA19043.hp1 NA19054.hp2 NA19056.hp1 NA19062.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp2 NA19070.hp2 NA19074.hp1 NA19077.hp1 NA19079.hp2 NA19080.hp1 NA19082.hp1 NA19084.hp1 NA19085.hp2 NA19090.hp1 NA19240.hp2 NA20129.hp2 NA20805.hp2 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0002 a0003 a0005 others(1): Show a0002 a0003 a0005 a0006	a0002c0002 a0003c0003 a0005c0009 others(1): Show a0002c0002 a0003c0003 a0005c0009 a0006c0006	a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 others(6): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0007 a0002c0002t0011 a0002c0002t0012 a0003c0003t0002 a0005c0009t0002 a0006c0006t0002	a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0013 others(76): Show a0002c0002t0002g0002 a0002c0002t0002g0003 a0002c0002t0002g0013 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0032 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0035 a0002c0002t0002g0047 a0002c0002t0002g0055 a0002c0002t0002g0059 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0111 a0002c0002t0002g0112 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0116 a0002c0002t0002g0117 a0002c0002t0002g0122 a0002c0002t0002g0123 a0002c0002t0002g0124 a0002c0002t0002g0149 a0002c0002t0003g0015 a0002c0002t0003g0026 a0002c0002t0003g0027 a0002c0002t0003g0028 a0002c0002t0003g0030 a0002c0002t0003g0063 a0002c0002t0003g0064 a0002c0002t0003g0065 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0069 a0002c0002t0003g0070 a0002c0002t0003g0071 a0002c0002t0003g0074 a0002c0002t0003g0075 a0002c0002t0003g0076 a0002c0002t0003g0077 a0002c0002t0004g0029 a0002c0002t0004g0072 a0002c0002t0004g0073 a0002c0002t0004g0078 a0002c0002t0004g0079 a0002c0002t0004g0080 a0002c0002t0004g0081 a0002c0002t0007g0118 a0002c0002t0007g0119 a0002c0002t0007g0120 a0002c0002t0011g0002 a0002c0002t0012g0140 a0003c0003t0002g0002 a0003c0003t0002g0003 a0005c0009t0002g0002 a0006c0006t0002g0090	176	402	0.4378	c.101 others(4): Show c.1010A>G	p.Glu others(6): Show p.Glu337Gly	ADPRM	ENSG00000170222.12	transcript	ENST00000379774.5	protein_coding	4/4	1101/1534	1010/1029	337/342	chr17	TogoVar
ADPRS_chr1_36083892_36098932	36092018	G G	A A	missense_variant missense_variant	MODERATE	HG00408.hp1 HG00408.hp2 HG00438.hp1 others(98): Show HG00408.hp1 HG00408.hp2 HG00438.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01123.hp1 HG01167.hp1 HG01169.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01884.hp1 HG01928.hp1 HG01934.hp2 HG01993.hp2 HG02055.hp2 HG02056.hp2 HG02074.hp1 HG02083.hp2 HG02148.hp1 HG02148.hp2 HG02257.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03041.hp1 HG03098.hp1 HG03195.hp1 HG03209.hp1 HG03209.hp2 HG03471.hp1 HG03486.hp2 HG03834.hp2 NA18747.hp1 NA18906.hp2 NA18941.hp2 NA18944.hp2 NA18950.hp2 NA18952.hp1 NA18955.hp2 NA18959.hp1 NA18961.hp1 NA18963.hp1 NA18964.hp2 NA18970.hp2 NA18973.hp2 NA18974.hp2 NA18977.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp2 NA18985.hp2 NA18986.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18997.hp1 NA18998.hp2 NA19001.hp2 NA19005.hp1 NA19009.hp1 NA19011.hp2 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19059.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19077.hp1 NA19079.hp1 NA19080.hp1 NA19082.hp2 NA19083.hp1 NA19084.hp2 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20905.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0006 a0002c0002t0001 a0002c0002t0006	a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0027 others(5): Show a0002c0002t0001g0002 a0002c0002t0001g0004 a0002c0002t0001g0027 a0002c0002t0001g0028 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0052 a0002c0002t0006g0004	101	410	0.2463	c.625 others(3): Show c.625G>A	p.Glu others(6): Show p.Glu209Lys	ADPRS	ENSG00000116863.11	transcript	ENST00000373178.5	protein_coding	4/6	638/1651	625/1092	209/363	chr1	TogoVar
ADPRS_chr1_36083892_36098932	36092438	C C	T T	missense_variant missense_variant	MODERATE	NA18993.hp2 NA18993.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0005 a0003c0006t0001g0005	1	410	0.0024	c.718 others(3): Show c.718C>T	p.Arg others(6): Show p.Arg240Cys	ADPRS	ENSG00000116863.11	transcript	ENST00000373178.5	protein_coding	5/6	731/1651	718/1092	240/363	chr1	TogoVar
ADRA1A_chr8_26763809_26872278	26770155	T T	A A	missense_variant missense_variant	MODERATE	HG00438.hp1 HG01099.hp1 HG01167.hp2 others(14): Show HG00438.hp1 HG01099.hp1 HG01167.hp2 HG01169.hp1 HG01496.hp2 HG01978.hp2 HG01993.hp2 HG02273.hp1 HG03453.hp1 HG03471.hp1 HG03579.hp2 HG03831.hp1 NA18952.hp1 NA18988.hp2 NA18995.hp2 NA19068.hp2 NA19078.hp2	a0003 a0008 a0013 a0003 a0008 a0013	a0003c0003 a0008c0008 a0013c0013 a0003c0003 a0008c0008 a0013c0013	a0003c0003t0001 a0003c0003t0002 a0003c0003t0008 others(4): Show a0003c0003t0001 a0003c0003t0002 a0003c0003t0008 a0003c0003t0017 a0003c0003t0028 a0008c0008t0018 a0013c0013t0001	a0003c0003t0001g0004 a0003c0003t0001g0090 a0003c0003t0001g0143 others(12): Show a0003c0003t0001g0004 a0003c0003t0001g0090 a0003c0003t0001g0143 a0003c0003t0001g0145 a0003c0003t0001g0163 a0003c0003t0001g0212 a0003c0003t0002g0258 a0003c0003t0002g0265 a0003c0003t0008g0333 a0003c0003t0008g0338 a0003c0003t0017g0026 a0003c0003t0028g0295 a0008c0008t0018g0076 a0008c0008t0018g0079 a0013c0013t0001g0088	17	388	0.0438	c.139 others(4): Show c.1395A>T	p.Glu others(6): Show p.Glu465Asp	ADRA1A	ENSG00000120907.18	transcript	ENST00000380573.4	protein_coding	3/3	2424/3770	1395/1401	465/466	chr8	TogoVar
ADRA1A_chr8_26763809_26872278	26770336	C C	T T	missense_variant missense_variant	MODERATE	HG03669.hp2 HG03669.hp2	a0010 a0010	a0010c0017 a0010c0017	a0010c0017t0002 a0010c0017t0002	a0010c0017t0002g0235 a0010c0017t0002g0235	1	388	0.0026	c.121 others(4): Show c.1214G>A	p.Arg others(6): Show p.Arg405His	ADRA1A	ENSG00000120907.18	transcript	ENST00000380573.4	protein_coding	3/3	2243/3770	1214/1401	405/466	chr8	TogoVar
ADRA1A_chr8_26763809_26872278	26770378	G G	A A	missense_variant missense_variant	MODERATE	NA19068.hp2 NA19068.hp2	a0013 a0013	a0013c0013 a0013c0013	a0013c0013t0001 a0013c0013t0001	a0013c0013t0001g0088 a0013c0013t0001g0088	1	388	0.0026	c.117 others(4): Show c.1172C>T	p.Thr others(6): Show p.Thr391Met	ADRA1A	ENSG00000120907.18	transcript	ENST00000380573.4	protein_coding	3/3	2201/3770	1172/1401	391/466	chr8	TogoVar
ADRA1A_chr8_26763809_26872278	26770511	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(275): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00639.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01069.hp1 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp1 HG01167.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01952.hp2 HG01975.hp2 HG01978.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp1 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03688.hp1 HG03710.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04204.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18957.hp1 NA18957.hp2 NA18960.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp1 NA18963.hp1 NA18963.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp1 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18983.hp2 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18992.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18999.hp1 NA19001.hp1 NA19003.hp1 NA19003.hp2 NA19005.hp1 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19012.hp2 NA19043.hp1 NA19056.hp1 NA19056.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19066.hp2 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19070.hp1 NA19070.hp2 NA19072.hp2 NA19074.hp2 NA19077.hp1 NA19077.hp2 NA19078.hp1 NA19078.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19081.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19086.hp1 NA19086.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(5): Show a0001 a0003 a0004 a0005 a0008 a0009 a0011 a0013	a0001c0001 a0001c0010 a0001c0011 others(10): Show a0001c0001 a0001c0010 a0001c0011 a0001c0015 a0001c0016 a0001c0020 a0003c0003 a0004c0004 a0005c0005 a0008c0008 a0009c0007 a0011c0019 a0013c0013	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(51): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0010 a0001c0001t0011 a0001c0001t0012 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0001t0027 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0042 a0001c0001t0043 a0001c0010t0002 a0001c0011t0001 a0001c0015t0004 a0001c0016t0001 a0001c0020t0004 a0003c0003t0001 a0003c0003t0002 a0003c0003t0008 a0003c0003t0017 a0003c0003t0028 a0004c0004t0001 a0004c0004t0003 a0004c0004t0010 a0005c0005t0002 a0008c0008t0018 a0009c0007t0008 a0009c0007t0021 a0011c0019t0001 a0013c0013t0001	a0001c0001t0001g0006 a0001c0001t0001g0091 a0001c0001t0001g0095 others(266): Show a0001c0001t0001g0006 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0118 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0137 a0001c0001t0001g0139 a0001c0001t0001g0141 a0001c0001t0001g0148 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0161 a0001c0001t0001g0168 a0001c0001t0001g0170 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0180 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0188 a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0197 a0001c0001t0001g0201 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0323 a0001c0001t0001g0325 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0332 a0001c0001t0001g0334 a0001c0001t0001g0336 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0002g0226 a0001c0001t0002g0236 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0242 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0251 a0001c0001t0002g0256 a0001c0001t0002g0257 a0001c0001t0002g0261 a0001c0001t0002g0264 a0001c0001t0002g0266 a0001c0001t0002g0268 a0001c0001t0002g0271 a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0001t0002g0276 a0001c0001t0002g0284 a0001c0001t0002g0289 a0001c0001t0002g0290 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0294 a0001c0001t0002g0312 a0001c0001t0002g0315 a0001c0001t0003g0007 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0097 a0001c0001t0003g0098 a0001c0001t0003g0099 a0001c0001t0003g0102 a0001c0001t0003g0104 a0001c0001t0003g0109 a0001c0001t0003g0111 a0001c0001t0003g0112 a0001c0001t0003g0116 a0001c0001t0003g0117 a0001c0001t0003g0119 a0001c0001t0003g0120 a0001c0001t0003g0124 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0130 a0001c0001t0003g0136 a0001c0001t0003g0140 a0001c0001t0003g0153 a0001c0001t0003g0160 a0001c0001t0003g0164 a0001c0001t0003g0169 a0001c0001t0003g0171 a0001c0001t0003g0172 a0001c0001t0003g0173 a0001c0001t0003g0174 a0001c0001t0003g0175 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0184 a0001c0001t0003g0187 a0001c0001t0003g0191 a0001c0001t0003g0192 a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0003g0200 a0001c0001t0003g0205 a0001c0001t0003g0213 a0001c0001t0003g0219 a0001c0001t0003g0324 a0001c0001t0003g0327 a0001c0001t0003g0366 a0001c0001t0004g0016 a0001c0001t0004g0020 a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 a0001c0001t0004g0031 a0001c0001t0004g0032 a0001c0001t0004g0033 a0001c0001t0004g0039 a0001c0001t0004g0046 a0001c0001t0004g0051 a0001c0001t0004g0055 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0064 a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068 a0001c0001t0005g0008 a0001c0001t0005g0010 a0001c0001t0005g0196 a0001c0001t0005g0198 a0001c0001t0005g0243 a0001c0001t0005g0244 a0001c0001t0005g0250 a0001c0001t0005g0252 a0001c0001t0005g0255 a0001c0001t0005g0260 a0001c0001t0005g0263 a0001c0001t0005g0267 a0001c0001t0005g0269 a0001c0001t0005g0270 a0001c0001t0005g0273 a0001c0001t0005g0278 a0001c0001t0005g0283 a0001c0001t0005g0297 a0001c0001t0005g0298 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0304 a0001c0001t0005g0305 a0001c0001t0005g0307 a0001c0001t0005g0309 a0001c0001t0006g0019 a0001c0001t0006g0027 a0001c0001t0006g0029 a0001c0001t0006g0043 a0001c0001t0006g0044 a0001c0001t0006g0045 a0001c0001t0006g0048 a0001c0001t0006g0050 a0001c0001t0006g0053 a0001c0001t0006g0058 a0001c0001t0006g0059 a0001c0001t0006g0060 a0001c0001t0006g0063 a0001c0001t0006g0069 a0001c0001t0008g0128 a0001c0001t0008g0133 a0001c0001t0008g0146 a0001c0001t0008g0202 a0001c0001t0008g0367 a0001c0001t0008g0368 a0001c0001t0010g0101 a0001c0001t0010g0155 a0001c0001t0010g0158 a0001c0001t0010g0162 a0001c0001t0010g0166 a0001c0001t0010g0167 a0001c0001t0010g0214 a0001c0001t0011g0353 a0001c0001t0011g0354 a0001c0001t0012g0238 a0001c0001t0012g0246 a0001c0001t0012g0254 a0001c0001t0012g0277 a0001c0001t0012g0286 a0001c0001t0012g0291 a0001c0001t0014g0342 a0001c0001t0014g0345 a0001c0001t0014g0346 a0001c0001t0015g0005 a0001c0001t0015g0047 a0001c0001t0016g0015 a0001c0001t0016g0021 a0001c0001t0016g0025 a0001c0001t0017g0028 a0001c0001t0019g0018 a0001c0001t0020g0038 a0001c0001t0022g0355 a0001c0001t0023g0352 a0001c0001t0024g0349 a0001c0001t0025g0220 a0001c0001t0027g0279 a0001c0001t0029g0280 a0001c0001t0030g0245 a0001c0001t0031g0344 a0001c0001t0032g0199 a0001c0001t0034g0072 a0001c0001t0035g0074 a0001c0001t0036g0073 a0001c0001t0037g0337 a0001c0001t0038g0113 a0001c0001t0039g0100 a0001c0001t0040g0204 a0001c0001t0041g0144 a0001c0001t0042g0370 a0001c0001t0043g0371 a0001c0010t0002g0223 a0001c0011t0001g0347 a0001c0015t0004g0034 a0001c0016t0001g0326 a0001c0020t0004g0070 a0003c0003t0001g0004 a0003c0003t0001g0090 a0003c0003t0001g0143 a0003c0003t0001g0145 a0003c0003t0001g0163 a0003c0003t0001g0212 a0003c0003t0002g0258 a0003c0003t0002g0265 a0003c0003t0008g0333 a0003c0003t0008g0338 a0003c0003t0017g0026 a0003c0003t0028g0295 a0004c0004t0001g0081 a0004c0004t0003g0080 a0004c0004t0003g0082 a0004c0004t0003g0083 a0004c0004t0003g0084 a0004c0004t0003g0086 a0004c0004t0010g0085 a0005c0005t0002g0001 a0005c0005t0002g0224 a0008c0008t0018g0076 a0008c0008t0018g0079 a0009c0007t0008g0075 a0009c0007t0021g0014 a0011c0019t0001g0215 a0013c0013t0001g0088	278	388	0.7165	c.103 others(4): Show c.1039T>C	p.Cys others(6): Show p.Cys347Arg	ADRA1A	ENSG00000120907.18	transcript	ENST00000380573.4	protein_coding	3/3	2068/3770	1039/1401	347/466	chr8	TogoVar
ADRA1A_chr8_26763809_26872278	26770543	G G	C C	missense_variant missense_variant	MODERATE	NA19012.hp2 NA19012.hp2	a0011 a0011	a0011c0019 a0011c0019	a0011c0019t0001 a0011c0019t0001	a0011c0019t0001g0215 a0011c0019t0001g0215	1	388	0.0026	c.100 others(4): Show c.1007C>G	p.Ala others(6): Show p.Ala336Gly	ADRA1A	ENSG00000120907.18	transcript	ENST00000380573.4	protein_coding	3/3	2036/3770	1007/1401	336/466	chr8	TogoVar
ADRA1A_chr8_26763809_26872278	26864231	C C	T T	missense_variant missense_variant	MODERATE	HG01952.hp2 NA18943.hp1 NA18970.hp2 others(6): Show HG01952.hp2 NA18943.hp1 NA18970.hp2 NA18973.hp1 NA18979.hp2 NA18993.hp1 NA19007.hp2 NA19057.hp1 NA19068.hp2	a0004 a0012 a0013 a0004 a0012 a0013	a0004c0004 a0012c0014 a0013c0013 a0004c0004 a0012c0014 a0013c0013	a0004c0004t0001 a0004c0004t0003 a0004c0004t0010 others(2): Show a0004c0004t0001 a0004c0004t0003 a0004c0004t0010 a0012c0014t0009 a0013c0013t0001	a0004c0004t0001g0081 a0004c0004t0003g0080 a0004c0004t0003g0082 others(6): Show a0004c0004t0001g0081 a0004c0004t0003g0080 a0004c0004t0003g0082 a0004c0004t0003g0083 a0004c0004t0003g0084 a0004c0004t0003g0086 a0004c0004t0010g0085 a0012c0014t0009g0087 a0013c0013t0001g0088	9	388	0.0232	c.739 others(3): Show c.739G>A	p.Gly others(6): Show p.Gly247Arg	ADRA1A	ENSG00000120907.18	transcript	ENST00000380573.4	protein_coding	2/3	1768/3770	739/1401	247/466	chr8	TogoVar
ADRA1A_chr8_26763809_26872278	26864291	A A	G G	missense_variant missense_variant	MODERATE	HG01123.hp1 HG01257.hp1 HG01258.hp2 others(1): Show HG01123.hp1 HG01257.hp1 HG01258.hp2 HG01361.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0002 a0005c0005t0002	a0005c0005t0002g0001 a0005c0005t0002g0224 a0005c0005t0002g0001 a0005c0005t0002g0224	4	388	0.0103	c.679 others(3): Show c.679T>C	p.Ser others(6): Show p.Ser227Pro	ADRA1A	ENSG00000120907.18	transcript	ENST00000380573.4	protein_coding	2/3	1708/3770	679/1401	227/466	chr8	TogoVar
ADRA1A_chr8_26763809_26872278	26864371	A A	C C	missense_variant missense_variant	MODERATE	HG01081.hp2 HG01256.hp2 HG01993.hp2 others(3): Show HG01081.hp2 HG01256.hp2 HG01993.hp2 HG02273.hp1 HG02273.hp2 NA20752.hp2	a0007 a0008 a0009 a0007 a0008 a0009	a0007c0009 a0008c0008 a0009c0007 a0007c0009 a0008c0008 a0009c0007	a0007c0009t0001 a0008c0008t0018 a0009c0007t0008 others(1): Show a0007c0009t0001 a0008c0008t0018 a0009c0007t0008 a0009c0007t0021	a0007c0009t0001g0077 a0007c0009t0001g0078 a0008c0008t0018g0076 others(3): Show a0007c0009t0001g0077 a0007c0009t0001g0078 a0008c0008t0018g0076 a0008c0008t0018g0079 a0009c0007t0008g0075 a0009c0007t0021g0014	6	388	0.0155	c.599 others(3): Show c.599T>G	p.Ile others(6): Show p.Ile200Ser	ADRA1A	ENSG00000120907.18	transcript	ENST00000380573.4	protein_coding	2/3	1628/3770	599/1401	200/466	chr8	TogoVar

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