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
ADH7_chr4_99407263_99440342	99415533	C C	T T	missense_variant missense_variant	MODERATE	HG03130.hp1 HG03130.hp1	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0003 a0007c0011t0003	a0007c0011t0003g0071 a0007c0011t0003g0071	1	416	0.0024	c.104 others(4): Show c.1045G>A	p.Val others(6): Show p.Val349Ile	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	8/9	1154/2119	1045/1125	349/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99419012	C C	T T	missense_variant missense_variant	MODERATE	HG02630.hp2 HG02630.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0002 a0006c0010t0002	a0006c0010t0002g0076 a0006c0010t0002g0076	1	416	0.0024	c.935 others(3): Show c.935G>A	p.Arg others(6): Show p.Arg312His	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	7/9	1044/2119	935/1125	312/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99420534	A A	G G	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG01070.hp1 HG01070.hp1	a0009 a0009	a0009c0009 a0009c0009	a0009c0009t0002 a0009c0009t0002	a0009c0009t0002g0121 a0009c0009t0002g0121	1	416	0.0024	c.824 others(3): Show c.824T>C	p.Met others(6): Show p.Met275Thr	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	6/9	933/2119	824/1125	275/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99420641	C C	A A	missense_variant missense_variant	MODERATE	NA18941.hp1 NA18941.hp1	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0006 a0005c0013t0006	a0005c0013t0006g0207 a0005c0013t0006g0207	1	416	0.0024	c.717 others(3): Show c.717G>T	p.Glu others(6): Show p.Glu239Asp	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	6/9	826/2119	717/1125	239/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99420661	T T	C C	missense_variant missense_variant	MODERATE	HG02257.hp2 HG03579.hp2 NA19043.hp2 HG02257.hp2 HG03579.hp2 NA19043.hp2	a0004 a0015 a0004 a0015	a0004c0005 a0015c0016 a0004c0005 a0015c0016	a0004c0005t0003 a0004c0005t0004 a0015c0016t0003 a0004c0005t0003 a0004c0005t0004 a0015c0016t0003	a0004c0005t0003g0158 a0004c0005t0004g0169 a0015c0016t0003g0159 a0004c0005t0003g0158 a0004c0005t0004g0169 a0015c0016t0003g0159	3	416	0.0072	c.697 others(3): Show c.697A>G	p.Met others(6): Show p.Met233Val	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	6/9	806/2119	697/1125	233/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99420682	T T	C C	missense_variant missense_variant	MODERATE	HG01884.hp2 HG01975.hp2 HG02258.hp2 others(17): Show HG01884.hp2 HG01975.hp2 HG02258.hp2 HG02280.hp2 HG02486.hp1 HG02559.hp1 HG02615.hp2 HG02622.hp2 HG02809.hp1 HG02896.hp1 HG02922.hp1 HG02965.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03453.hp1 HG03516.hp1 NA19030.hp2 NA19240.hp1 NA20129.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0003 a0002c0003t0004 a0002c0003t0002 a0002c0003t0003 a0002c0003t0004	a0002c0003t0002g0167 a0002c0003t0003g0042 a0002c0003t0003g0163 others(9): Show a0002c0003t0002g0167 a0002c0003t0003g0042 a0002c0003t0003g0163 a0002c0003t0003g0164 a0002c0003t0003g0166 a0002c0003t0003g0168 a0002c0003t0004g0014 a0002c0003t0004g0020 a0002c0003t0004g0043 a0002c0003t0004g0044 a0002c0003t0004g0162 a0002c0003t0004g0165	20	416	0.0481	c.676 others(3): Show c.676A>G	p.Lys others(6): Show p.Lys226Glu	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	6/9	785/2119	676/1125	226/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99420699	A A	G G	missense_variant missense_variant	MODERATE	HG02965.hp2 HG02965.hp2	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0003 a0010c0008t0003	a0010c0008t0003g0092 a0010c0008t0003g0092	1	416	0.0024	c.659 others(3): Show c.659T>C	p.Ile others(6): Show p.Ile220Thr	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	6/9	768/2119	659/1125	220/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99427846	G G	C C	missense_variant missense_variant	MODERATE	NA19084.hp1 NA19084.hp1	a0011 a0011	a0011c0014 a0011c0014	a0011c0014t0002 a0011c0014t0002	a0011c0014t0002g0217 a0011c0014t0002g0217	1	416	0.0024	c.491 others(3): Show c.491C>G	p.Ala others(6): Show p.Ala164Gly	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	5/9	600/2119	491/1125	164/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99427879	T T	C C	missense_variant missense_variant	MODERATE	HG01346.hp1 HG01346.hp1	a0012 a0012	a0012c0015 a0012c0015	a0012c0015t0002 a0012c0015t0002	a0012c0015t0002g0218 a0012c0015t0002g0218	1	416	0.0024	c.458 others(3): Show c.458A>G	p.Asp others(6): Show p.Asp153Gly	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	5/9	567/2119	458/1125	153/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99427895	C C	T T	missense_variant missense_variant	MODERATE	HG02451.hp2 HG02451.hp2	a0013 a0013	a0013c0007 a0013c0007	a0013c0007t0004 a0013c0007t0004	a0013c0007t0004g0077 a0013c0007t0004g0077	1	416	0.0024	c.442 others(3): Show c.442G>A	p.Glu others(6): Show p.Glu148Lys	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	5/9	551/2119	442/1125	148/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99428127	C C	T T	missense_variant missense_variant	MODERATE	NA19078.hp2 NA19078.hp2	a0014 a0014	a0014c0006 a0014c0006	a0014c0006t0001 a0014c0006t0001	a0014c0006t0001g0140 a0014c0006t0001g0140	1	416	0.0024	c.307 others(3): Show c.307G>A	p.Ala others(6): Show p.Ala103Thr	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	4/9	416/2119	307/1125	103/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99428512	C C	G G	missense_variant missense_variant	MODERATE	HG00280.hp2 HG00639.hp1 HG00642.hp1 others(4): Show HG00280.hp2 HG00639.hp1 HG00642.hp1 HG01123.hp1 HG01175.hp1 HG01243.hp2 HG01257.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0003 a0003c0004t0006 a0003c0004t0002 a0003c0004t0003 a0003c0004t0006	a0003c0004t0002g0074 a0003c0004t0002g0075 a0003c0004t0002g0171 others(2): Show a0003c0004t0002g0074 a0003c0004t0002g0075 a0003c0004t0002g0171 a0003c0004t0003g0017 a0003c0004t0006g0170	7	416	0.0168	c.239 others(3): Show c.239G>C	p.Gly others(5): Show p.Gly80Ala	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	3/9	348/2119	239/1125	80/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99429554	T T	C C	missense_variant missense_variant	MODERATE	NA19043.hp2 NA19043.hp2	a0015 a0015	a0015c0016 a0015c0016	a0015c0016t0003 a0015c0016t0003	a0015c0016t0003g0159 a0015c0016t0003g0159	1	416	0.0024	c.98A others(2): Show c.98A>G	p.Lys others(5): Show p.Lys33Arg	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	2/9	207/2119	98/1125	33/374	chr4	TogoVar
ADH7_chr4_99407263_99440342	99435220	C C	A A	missense_variant missense_variant	MODERATE	NA18965.hp2 NA18965.hp2	a0016 a0016	a0016c0017 a0016c0017	a0016c0017t0001 a0016c0017t0001	a0016c0017t0001g0220 a0016c0017t0001g0220	1	416	0.0024	c.14G others(2): Show c.14G>T	p.Gly others(4): Show p.Gly5Val	ADH7	ENSG00000196344.12	transcript	ENST00000437033.7	protein_coding	1/9	123/2119	14/1125	5/374	chr4	TogoVar
ADHFE1_chr8_66427504_66473907	66444597	C C	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG02896.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0001 a0005c0007t0001	a0005c0007t0001g0229 a0005c0007t0001g0229	1	402	0.0025	c.202 others(3): Show c.202C>G	p.Leu others(5): Show p.Leu68Val	ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding	5/14	215/1972	202/1404	68/467	chr8	TogoVar
ADHFE1_chr8_66427504_66473907	66445348	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG01884.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0263 a0004c0004t0001g0263	1	402	0.0025	c.484 others(3): Show c.484G>A	p.Asp others(6): Show p.Asp162Asn	ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding	6/14	497/1972	484/1404	162/467	chr8	TogoVar
ADHFE1_chr8_66427504_66473907	66468293	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(225): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00408.hp1 HG00423.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp1 HG01123.hp1 HG01123.hp2 HG01168.hp1 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01261.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01517.hp1 HG01884.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01943.hp1 HG01952.hp1 HG01952.hp2 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02129.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02165.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp1 HG02300.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp2 HG03239.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp2 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03688.hp1 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG03927.hp2 HG03942.hp2 HG04115.hp2 HG04184.hp2 HG04228.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18906.hp1 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18942.hp1 NA18943.hp2 NA18944.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18948.hp1 NA18948.hp2 NA18950.hp2 NA18951.hp1 NA18952.hp1 NA18952.hp2 NA18955.hp2 NA18956.hp1 NA18957.hp1 NA18961.hp1 NA18961.hp2 NA18962.hp2 NA18965.hp1 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp1 NA18969.hp2 NA18970.hp2 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18975.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18985.hp1 NA18985.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18991.hp2 NA18993.hp1 NA18994.hp2 NA18995.hp2 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19004.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp2 NA19058.hp2 NA19064.hp2 NA19067.hp1 NA19075.hp1 NA19077.hp2 NA19079.hp2 NA19084.hp2 NA19085.hp1 NA19086.hp2 NA19088.hp1 NA19091.hp1 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0005	a0001c0001 a0001c0003 a0001c0005 others(3): Show a0001c0001 a0001c0003 a0001c0005 a0003c0006 a0004c0004 a0005c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0003t0001 a0001c0005t0004 a0003c0006t0001 a0004c0004t0001 a0005c0007t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(180): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0028 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0077 a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0158 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0161 a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0190 a0001c0001t0001g0241 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0297 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0004g0003 a0001c0001t0004g0100 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0155 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0174 a0001c0001t0004g0175 a0001c0001t0004g0176 a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0181 a0001c0001t0004g0182 a0001c0001t0004g0209 a0001c0001t0004g0237 a0001c0001t0004g0242 a0001c0001t0004g0318 a0001c0001t0004g0319 a0001c0001t0006g0079 a0001c0003t0001g0038 a0001c0003t0001g0046 a0001c0003t0001g0047 a0001c0003t0001g0048 a0001c0003t0001g0049 a0001c0003t0001g0073 a0001c0003t0001g0074 a0001c0003t0001g0075 a0001c0003t0001g0078 a0001c0003t0001g0115 a0001c0003t0001g0278 a0001c0003t0001g0298 a0001c0003t0001g0299 a0001c0003t0001g0300 a0001c0003t0001g0301 a0001c0003t0001g0302 a0001c0003t0001g0303 a0001c0003t0001g0305 a0001c0003t0001g0306 a0001c0003t0001g0307 a0001c0003t0001g0308 a0001c0003t0001g0309 a0001c0003t0001g0310 a0001c0003t0001g0311 a0001c0003t0001g0312 a0001c0003t0001g0313 a0001c0003t0001g0315 a0001c0003t0001g0316 a0001c0003t0001g0321 a0001c0003t0001g0323 a0001c0005t0004g0125 a0003c0006t0001g0008 a0004c0004t0001g0263 a0005c0007t0001g0229	228	402	0.5672	c.134 others(4): Show c.1345T>C	p.Cys others(6): Show p.Cys449Arg	ADHFE1	ENSG00000147576.17	transcript	ENST00000396623.8	protein_coding	14/14	1358/1972	1345/1404	449/467	chr8	TogoVar
ADI1_chr2_3492366_3524531	3499049	C C	T T	missense_variant missense_variant	MODERATE	HG02280.hp2 HG02280.hp2	a0007 a0007	a0007c0008 a0007c0008	a0007c0008t0002 a0007c0008t0002	a0007c0008t0002g0205 a0007c0008t0002g0205	1	392	0.0026	c.454 others(3): Show c.454G>A	p.Glu others(6): Show p.Glu152Lys	ADI1	ENSG00000182551.14	transcript	ENST00000327435.11	protein_coding	4/4	498/2181	454/540	152/179	chr2	TogoVar
ADI1_chr2_3492366_3524531	3500819	C C	T T	missense_variant missense_variant	MODERATE	HG00544.hp1 NA18950.hp1 NA19064.hp1 HG00544.hp1 NA18950.hp1 NA19064.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0007 a0003c0004t0002 a0003c0004t0007	a0003c0004t0002g0229 a0003c0004t0007g0027 a0003c0004t0002g0229 a0003c0004t0007g0027	3	392	0.0077	c.415 others(3): Show c.415G>A	p.Glu others(6): Show p.Glu139Lys	ADI1	ENSG00000182551.14	transcript	ENST00000327435.11	protein_coding	3/4	459/2181	415/540	139/179	chr2	TogoVar
ADI1_chr2_3492366_3524531	3500848	G G	A A	missense_variant missense_variant	MODERATE	NA19054.hp1 NA19057.hp2 NA19054.hp1 NA19057.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0049 a0004c0006t0002g0049	2	392	0.0051	c.386 others(3): Show c.386C>T	p.Ala others(6): Show p.Ala129Val	ADI1	ENSG00000182551.14	transcript	ENST00000327435.11	protein_coding	3/4	430/2181	386/540	129/179	chr2	TogoVar
ADI1_chr2_3492366_3524531	3513876	A A	G G	missense_variant missense_variant	MODERATE	NA18997.hp2 NA18997.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0006 a0006c0009t0006	a0006c0009t0006g0150 a0006c0009t0006g0150	1	392	0.0026	c.221 others(3): Show c.221T>C	p.Leu others(5): Show p.Leu74Pro	ADI1	ENSG00000182551.14	transcript	ENST00000327435.11	protein_coding	2/4	265/2181	221/540	74/179	chr2	TogoVar
ADI1_chr2_3492366_3524531	3513877	G G	T T	missense_variant missense_variant	MODERATE	NA18997.hp2 NA18997.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0006 a0006c0009t0006	a0006c0009t0006g0150 a0006c0009t0006g0150	1	392	0.0026	c.220 others(3): Show c.220C>A	p.Leu others(5): Show p.Leu74Ile	ADI1	ENSG00000182551.14	transcript	ENST00000327435.11	protein_coding	2/4	264/2181	220/540	74/179	chr2	TogoVar
ADI1_chr2_3492366_3524531	3513895	T T	C C	missense_variant missense_variant	MODERATE	HG00558.hp1 NA18947.hp2 NA18948.hp1 others(8): Show HG00558.hp1 NA18947.hp2 NA18948.hp1 NA18951.hp1 NA18984.hp1 NA18992.hp2 NA18998.hp2 NA19004.hp2 NA19058.hp1 NA19068.hp1 NA19081.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0005 a0002c0003t0003g0042 a0002c0003t0003g0184 others(1): Show a0002c0003t0003g0005 a0002c0003t0003g0042 a0002c0003t0003g0184 a0002c0003t0003g0185	11	392	0.0281	c.202 others(3): Show c.202A>G	p.Thr others(5): Show p.Thr68Ala	ADI1	ENSG00000182551.14	transcript	ENST00000327435.11	protein_coding	2/4	246/2181	202/540	68/179	chr2	TogoVar
ADI1_chr2_3492366_3524531	3519387	A A	G G	missense_variant missense_variant	MODERATE	NA19072.hp1 NA19072.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0002 a0008c0007t0002	a0008c0007t0002g0055 a0008c0007t0002g0055	1	392	0.0026	c.101 others(3): Show c.101T>C	p.Leu others(5): Show p.Leu34Pro	ADI1	ENSG00000182551.14	transcript	ENST00000327435.11	protein_coding	1/4	145/2181	101/540	34/179	chr2	TogoVar
ADI1_chr2_3492366_3524531	3519421	C C	G G	missense_variant missense_variant	MODERATE	HG01168.hp2 HG01169.hp2 HG01168.hp2 HG01169.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0001 a0005c0005t0001	a0005c0005t0001g0025 a0005c0005t0001g0025	2	392	0.0051	c.67G others(2): Show c.67G>C	p.Gly others(5): Show p.Gly23Arg	ADI1	ENSG00000182551.14	transcript	ENST00000327435.11	protein_coding	1/4	111/2181	67/540	23/179	chr2	TogoVar
ADIG_chr20_38576197_38593463	38581320	C C	T T	missense_variant missense_variant	MODERATE	HG02486.hp1 HG02486.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0054 a0002c0004t0001g0054	1	372	0.0027	c.70C others(2): Show c.70C>T	p.Pro others(5): Show p.Pro24Ser	ADIG	ENSG00000182035.13	transcript	ENST00000537425.3	protein_coding	1/3	124/674	70/243	24/80	chr20	TogoVar
ADIPOQ_chr3_186837710_186863463	186853171	G G	A A	missense_variant missense_variant	MODERATE	HG02451.hp1 HG03225.hp2 HG02451.hp1 HG03225.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0011 a0002c0003t0011	a0002c0003t0011g0061 a0002c0003t0011g0062 a0002c0003t0011g0061 a0002c0003t0011g0062	2	484	0.0041	c.113 others(3): Show c.113G>A	p.Gly others(5): Show p.Gly38Asp	ADIPOQ	ENSG00000181092.10	transcript	ENST00000320741.7	protein_coding	2/3	161/4542	113/735	38/244	chr3	TogoVar
ADIPOQ_chr3_186837710_186863463	186854630	C C	A A	missense_variant missense_variant	MODERATE	NA18951.hp2 NA19057.hp1 NA18951.hp2 NA19057.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0030 a0003c0004t0005 a0003c0004t0030	a0003c0004t0005g0007 a0003c0004t0030g0007 a0003c0004t0005g0007 a0003c0004t0030g0007	2	484	0.0041	c.661 others(3): Show c.661C>A	p.Arg others(6): Show p.Arg221Ser	ADIPOQ	ENSG00000181092.10	transcript	ENST00000320741.7	protein_coding	3/3	709/4542	661/735	221/244	chr3	TogoVar
ADIPOQ_chr3_186837710_186863463	186854691	A A	C C	missense_variant missense_variant	MODERATE	NA19003.hp1 NA19003.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0003 a0004c0005t0003	a0004c0005t0003g0191 a0004c0005t0003g0191	1	484	0.0021	c.722 others(3): Show c.722A>C	p.His others(6): Show p.His241Pro	ADIPOQ	ENSG00000181092.10	transcript	ENST00000320741.7	protein_coding	3/3	770/4542	722/735	241/244	chr3	TogoVar
ADIPOR2_chr12_1686070_1793674	1754459	A A	G G	missense_variant missense_variant	MODERATE	HG02615.hp1 HG02818.hp2 HG02965.hp1 others(2): Show HG02615.hp1 HG02818.hp2 HG02965.hp1 HG03225.hp2 HG03579.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0008 a0002c0004t0008	a0002c0004t0008g0248 a0002c0004t0008g0249 a0002c0004t0008g0250 others(2): Show a0002c0004t0008g0248 a0002c0004t0008g0249 a0002c0004t0008g0250 a0002c0004t0008g0251 a0002c0004t0008g0252	5	378	0.0132	c.116 others(3): Show c.116A>G	p.Gln others(5): Show p.Gln39Arg	ADIPOR2	ENSG00000006831.10	transcript	ENST00000357103.5	protein_coding	2/8	324/3971	116/1161	39/386	chr12	TogoVar
ADIPOR2_chr12_1686070_1793674	1781001	G G	T T	missense_variant missense_variant	MODERATE	NA18943.hp1 NA18943.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0019 a0004c0009t0019	a0004c0009t0019g0177 a0004c0009t0019g0177	1	378	0.0027	c.763 others(3): Show c.763G>T	p.Val others(6): Show p.Val255Leu	ADIPOR2	ENSG00000006831.10	transcript	ENST00000357103.5	protein_coding	6/8	971/3971	763/1161	255/386	chr12	TogoVar
ADIPOR2_chr12_1686070_1793674	1783948	C C	A A	missense_variant missense_variant	MODERATE	NA19058.hp2 NA19058.hp2	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0014 a0005c0007t0014	a0005c0007t0014g0260 a0005c0007t0014g0260	1	378	0.0027	c.907 others(3): Show c.907C>A	p.Leu others(6): Show p.Leu303Ile	ADIPOR2	ENSG00000006831.10	transcript	ENST00000357103.5	protein_coding	7/8	1115/3971	907/1161	303/386	chr12	TogoVar
ADIPOR2_chr12_1686070_1793674	1786064	G G	T T	missense_variant missense_variant	MODERATE	HG04115.hp2 NA20905.hp2 HG04115.hp2 NA20905.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0008 a0003c0006t0001g0009 a0003c0006t0001g0008 a0003c0006t0001g0009	2	378	0.0053	c.115 others(4): Show c.1153G>T	p.Ala others(6): Show p.Ala385Ser	ADIPOR2	ENSG00000006831.10	transcript	ENST00000357103.5	protein_coding	8/8	1361/3971	1153/1161	385/386	chr12	TogoVar
ADISSP_chr20_3748508_3772753	3754143	G G	A A	missense_variant missense_variant	MODERATE	NA18945.hp1 NA18945.hp1	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0243 a0002c0007t0001g0243	1	446	0.0022	c.440 others(3): Show c.440C>T	p.Thr others(6): Show p.Thr147Met	ADISSP	ENSG00000101220.18	transcript	ENST00000379772.4	protein_coding	6/6	617/1252	440/525	147/174	chr20	TogoVar
ADISSP_chr20_3748508_3772753	3754492	G G	C C	missense_variant missense_variant	MODERATE	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0172 a0003c0003t0010g0172	1	446	0.0022	c.329 others(3): Show c.329C>G	p.Ala others(6): Show p.Ala110Gly	ADISSP	ENSG00000101220.18	transcript	ENST00000379772.4	protein_coding	5/6	506/1252	329/525	110/174	chr20	TogoVar
ADISSP_chr20_3748508_3772753	3754493	C C	G G	missense_variant missense_variant	MODERATE	NA19076.hp1 NA19076.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0010 a0003c0003t0010	a0003c0003t0010g0172 a0003c0003t0010g0172	1	446	0.0022	c.328 others(3): Show c.328G>C	p.Ala others(6): Show p.Ala110Pro	ADISSP	ENSG00000101220.18	transcript	ENST00000379772.4	protein_coding	5/6	505/1252	328/525	110/174	chr20	TogoVar
ADK_chr10_74146221_74714290	74394220	G G	A A	missense_variant missense_variant	MODERATE	NA19088.hp2 NA19088.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0058 a0002c0003t0002g0058	1	200	0.0050	c.353 others(3): Show c.353G>A	p.Arg others(6): Show p.Arg118Lys	ADK	ENSG00000156110.15	transcript	ENST00000539909.6	protein_coding	5/11	411/1992	353/1089	118/362	chr10	TogoVar
ADM2_chr22_50476543_50491437	50481878	T T	G G	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0080 a0007c0004t0080	a0007c0004t0080g0001 a0007c0004t0080g0001	1	446	0.0022	c.31T others(2): Show c.31T>G	p.Cys others(5): Show p.Cys11Gly	ADM2	ENSG00000128165.9	transcript	ENST00000395737.2	protein_coding	2/3	263/4213	31/447	11/148	chr22	TogoVar
ADM2_chr22_50476543_50491437	50481957	G G	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	NA19091.hp1 NA19091.hp1	a0004 a0004	a0004c0009 a0004c0009	a0004c0009t0009 a0004c0009t0009	a0004c0009t0009g0001 a0004c0009t0009g0001	1	446	0.0022	c.110 others(3): Show c.110G>T	p.Arg others(5): Show p.Arg37Met	ADM2	ENSG00000128165.9	transcript	ENST00000395737.2	protein_coding	2/3	342/4213	110/447	37/148	chr22	TogoVar
ADM2_chr22_50476543_50491437	50482690	G G	A A	missense_variant missense_variant	MODERATE	HG02165.hp1 HG04184.hp2 HG02165.hp1 HG04184.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0021 a0003c0003t0028 a0003c0003t0021 a0003c0003t0028	a0003c0003t0021g0001 a0003c0003t0028g0001 a0003c0003t0021g0001 a0003c0003t0028g0001	2	446	0.0045	c.234 others(3): Show c.234G>A	p.Met others(5): Show p.Met78Ile	ADM2	ENSG00000128165.9	transcript	ENST00000395737.2	protein_coding	3/3	466/4213	234/447	78/148	chr22	TogoVar
ADM2_chr22_50476543_50491437	50482734	G G	A A	missense_variant missense_variant	MODERATE	HG01884.hp1 HG01884.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0098 a0005c0007t0098	a0005c0007t0098g0001 a0005c0007t0098g0001	1	446	0.0022	c.278 others(3): Show c.278G>A	p.Arg others(5): Show p.Arg93Gln	ADM2	ENSG00000128165.9	transcript	ENST00000395737.2	protein_coding	3/3	510/4213	278/447	93/148	chr22	TogoVar
ADM2_chr22_50476543_50491437	50482847	G G	T T	missense_variant missense_variant	MODERATE	NA19063.hp2 NA19063.hp2	a0007 a0007	a0007c0004 a0007c0004	a0007c0004t0080 a0007c0004t0080	a0007c0004t0080g0001 a0007c0004t0080g0001	1	446	0.0022	c.391 others(3): Show c.391G>T	p.Ala others(6): Show p.Ala131Ser	ADM2	ENSG00000128165.9	transcript	ENST00000395737.2	protein_coding	3/3	623/4213	391/447	131/148	chr22	TogoVar
ADM5_chr19_49684594_49695575	49690174	G G	A A	missense_variant missense_variant	MODERATE	HG00438.hp2 HG00544.hp1 NA18948.hp2 others(1): Show HG00438.hp2 HG00544.hp1 NA18948.hp2 NA18963.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0001 a0002c0003t0001g0001	4	392	0.0102	c.143 others(3): Show c.143G>A	p.Arg others(5): Show p.Arg48His	ADM5	ENSG00000224420.4	transcript	ENST00000420022.4	protein_coding	2/2	387/788	143/462	48/153	chr19	TogoVar
ADM5_chr19_49684594_49695575	49690180	C C	A A	missense_variant missense_variant	MODERATE	HG03688.hp1 HG04115.hp1 HG03688.hp1 HG04115.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0001 a0003c0004t0001g0001	2	392	0.0051	c.149 others(3): Show c.149C>A	p.Ala others(5): Show p.Ala50Glu	ADM5	ENSG00000224420.4	transcript	ENST00000420022.4	protein_coding	2/2	393/788	149/462	50/153	chr19	TogoVar
ADM_chr11_10300073_10312397	10306000	C C	G G	missense_variant missense_variant	MODERATE	HG01109.hp1 HG01346.hp2 HG01943.hp1 others(11): Show HG01109.hp1 HG01346.hp2 HG01943.hp1 HG02572.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02895.hp2 HG02922.hp2 HG03209.hp1 HG03453.hp1 HG03471.hp1 NA18522.hp2 NA20805.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0008 a0002c0002t0002 a0002c0002t0008	a0002c0002t0002g0001 a0002c0002t0002g0007 a0002c0002t0008g0001 a0002c0002t0002g0001 a0002c0002t0002g0007 a0002c0002t0008g0001	14	408	0.0343	c.150 others(3): Show c.150C>G	p.Ser others(5): Show p.Ser50Arg	ADM	ENSG00000148926.10	transcript	ENST00000278175.10	protein_coding	3/4	328/1492	150/558	50/185	chr11	TogoVar
ADM_chr11_10300073_10312397	10306046	A A	G G	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02145.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0001 a0004c0004t0001g0001	1	408	0.0025	c.196 others(3): Show c.196A>G	p.Thr others(5): Show p.Thr66Ala	ADM	ENSG00000148926.10	transcript	ENST00000278175.10	protein_coding	3/4	374/1492	196/558	66/185	chr11	TogoVar
ADM_chr11_10300073_10312397	10306337	C C	G G	missense_variant missense_variant	MODERATE	HG02896.hp1 HG03486.hp1 HG03579.hp2 HG02896.hp1 HG03486.hp1 HG03579.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0001 a0003c0003t0004g0001	3	408	0.0074	c.254 others(3): Show c.254C>G	p.Pro others(5): Show p.Pro85Arg	ADM	ENSG00000148926.10	transcript	ENST00000278175.10	protein_coding	4/4	432/1492	254/558	85/185	chr11	TogoVar
ADNP2_chr18_80104262_80145346	80135669	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00099.hp2	a0002 a0002	a0002c0011 a0002c0011	a0002c0011t0003 a0002c0011t0003	a0002c0011t0003g0233 a0002c0011t0003g0233	1	388	0.0026	c.256 others(3): Show c.256A>G	p.Thr others(5): Show p.Thr86Ala	ADNP2	ENSG00000101544.9	transcript	ENST00000262198.9	protein_coding	4/4	480/5157	256/3396	86/1131	chr18	TogoVar
ADNP2_chr18_80104262_80145346	80136387	C C	T T	missense_variant missense_variant	MODERATE	HG01081.hp2 HG01081.hp2	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0001 a0008c0023t0001	a0008c0023t0001g0217 a0008c0023t0001g0217	1	388	0.0026	c.974 others(3): Show c.974C>T	p.Ala others(6): Show p.Ala325Val	ADNP2	ENSG00000101544.9	transcript	ENST00000262198.9	protein_coding	4/4	1198/5157	974/3396	325/1131	chr18	TogoVar
ADNP2_chr18_80104262_80145346	80136687	T T	C C	missense_variant missense_variant	MODERATE	HG03654.hp1 HG03654.hp1	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0155 a0004c0013t0002g0155	1	388	0.0026	c.127 others(4): Show c.1274T>C	p.Val others(6): Show p.Val425Ala	ADNP2	ENSG00000101544.9	transcript	ENST00000262198.9	protein_coding	4/4	1498/5157	1274/3396	425/1131	chr18	TogoVar

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