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
AKR7A2_chr1_19298965_19317144	19312089	G G	T T	synonymous_variant synonymous_variant	LOW	HG01516.hp1 HG01517.hp2 HG01981.hp2 others(2): Show HG01516.hp1 HG01517.hp2 HG01981.hp2 HG03688.hp1 HG04228.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0023 a0001c0007t0001g0036 a0001c0007t0001g0023 a0001c0007t0001g0036	5	460	0.0109	c.36C others(2): Show c.36C>A	p.Ala others(5): Show p.Ala12Ala	AKR7A2	ENSG00000053371.13	transcript	ENST00000235835.8	protein_coding	1/7	56/1360	36/1080	12/359	chr1	TogoVar
AKR7A3_chr1_19277573_19293770	19282740	G G	A A	synonymous_variant synonymous_variant	LOW	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0082 a0001c0017t0001g0082	1	432	0.0023	c.987 others(3): Show c.987C>T	p.Tyr others(6): Show p.Tyr329Tyr	AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	7/7	1048/1215	987/996	329/331	chr1	TogoVar
AKR7A3_chr1_19277573_19293770	19282788	G G	A A	synonymous_variant synonymous_variant	LOW	HG01069.hp1 HG01099.hp1 HG01106.hp2 others(21): Show HG01069.hp1 HG01099.hp1 HG01106.hp2 HG02071.hp1 HG02132.hp2 HG02257.hp1 HG02602.hp1 HG02615.hp2 HG02735.hp2 HG02895.hp1 HG04199.hp1 NA18940.hp1 NA18944.hp2 NA18953.hp2 NA18972.hp2 NA18974.hp1 NA18982.hp1 NA18991.hp1 NA19011.hp1 NA19012.hp2 NA19054.hp2 NA19080.hp1 NA19084.hp1 NA19091.hp2	a0004 a0010 a0004 a0010	a0004c0005 a0010c0012 a0004c0005 a0010c0012	a0004c0005t0001 a0010c0012t0001 a0004c0005t0001 a0010c0012t0001	a0004c0005t0001g0009 a0004c0005t0001g0012 a0004c0005t0001g0023 others(2): Show a0004c0005t0001g0009 a0004c0005t0001g0012 a0004c0005t0001g0023 a0004c0005t0001g0047 a0010c0012t0001g0027	24	432	0.0556	c.939 others(3): Show c.939C>T	p.Asp others(6): Show p.Asp313Asp	AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	7/7	1000/1215	939/996	313/331	chr1	TogoVar
AKR7A3_chr1_19277573_19293770	19282884	G G	A A	synonymous_variant synonymous_variant	LOW	HG02109.hp1 HG02258.hp1 HG02647.hp1 others(10): Show HG02109.hp1 HG02258.hp1 HG02647.hp1 HG02717.hp2 HG02818.hp2 HG02886.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03130.hp1 HG03139.hp1 HG03579.hp2 NA19043.hp2	a0002 a0006 a0008 others(1): Show a0002 a0006 a0008 a0013	a0002c0022 a0002c0025 a0006c0009 others(2): Show a0002c0022 a0002c0025 a0006c0009 a0008c0014 a0013c0021	a0002c0022t0001 a0002c0025t0001 a0006c0009t0001 others(2): Show a0002c0022t0001 a0002c0025t0001 a0006c0009t0001 a0008c0014t0001 a0013c0021t0005	a0002c0022t0001g0053 a0002c0025t0001g0056 a0006c0009t0001g0019 others(3): Show a0002c0022t0001g0053 a0002c0025t0001g0056 a0006c0009t0001g0019 a0006c0009t0001g0022 a0008c0014t0001g0029 a0013c0021t0005g0042	13	432	0.0301	c.843 others(3): Show c.843C>T	p.His others(6): Show p.His281His	AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	7/7	904/1215	843/996	281/331	chr1	TogoVar
AKR7A3_chr1_19277573_19293770	19284053	G G	A A	synonymous_variant synonymous_variant	LOW	NA18945.hp1 NA18945.hp1	a0003 a0003	a0003c0020 a0003c0020	a0003c0020t0001 a0003c0020t0001	a0003c0020t0001g0050 a0003c0020t0001g0050	1	432	0.0023	c.777 others(3): Show c.777C>T	p.Ser others(6): Show p.Ser259Ser	AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	6/7	838/1215	777/996	259/331	chr1	TogoVar
AKR7A3_chr1_19277573_19293770	19284104	A A	G G	synonymous_variant synonymous_variant	LOW	HG00408.hp2 HG00639.hp2 HG00735.hp2 others(11): Show HG00408.hp2 HG00639.hp2 HG00735.hp2 HG02155.hp2 HG02165.hp1 HG02683.hp1 HG02698.hp1 HG03831.hp1 HG04199.hp2 NA18612.hp1 NA18941.hp2 NA18945.hp2 NA19003.hp1 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0011 a0002c0008 a0001c0011 a0002c0008	a0001c0011t0003 a0002c0008t0002 a0001c0011t0003 a0002c0008t0002	a0001c0011t0003g0021 a0002c0008t0002g0010 a0002c0008t0002g0039 a0001c0011t0003g0021 a0002c0008t0002g0010 a0002c0008t0002g0039	14	432	0.0324	c.726 others(3): Show c.726T>C	p.Phe others(6): Show p.Phe242Phe	AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	6/7	787/1215	726/996	242/331	chr1	TogoVar
AKR7A3_chr1_19277573_19293770	19284733	G G	A A	synonymous_variant synonymous_variant	LOW	HG00280.hp1 HG00544.hp2 HG00642.hp1 others(42): Show HG00280.hp1 HG00544.hp2 HG00642.hp1 HG00733.hp1 HG00733.hp2 HG00741.hp2 HG01070.hp2 HG01071.hp2 HG01074.hp2 HG01106.hp1 HG01109.hp2 HG01192.hp1 HG01258.hp1 HG01433.hp2 HG01496.hp1 HG02055.hp1 HG02056.hp2 HG02071.hp2 HG02080.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02523.hp1 HG02559.hp2 HG02622.hp1 HG02630.hp2 HG02922.hp2 HG02970.hp1 HG03098.hp1 HG03453.hp2 HG03491.hp2 HG03492.hp2 HG03669.hp2 HG03688.hp2 HG03710.hp1 HG03927.hp1 HG04184.hp1 HG04204.hp1 HG04228.hp1 HG04228.hp2 NA18522.hp2 NA18954.hp1 NA19055.hp1 NA20905.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0006 a0002c0004 a0014c0023 a0001c0006 a0002c0004 a0014c0023	a0001c0006t0001 a0001c0006t0004 a0002c0004t0001 others(1): Show a0001c0006t0001 a0001c0006t0004 a0002c0004t0001 a0014c0023t0001	a0001c0006t0001g0008 a0001c0006t0001g0013 a0001c0006t0001g0052 others(8): Show a0001c0006t0001g0008 a0001c0006t0001g0013 a0001c0006t0001g0052 a0001c0006t0001g0071 a0001c0006t0004g0058 a0002c0004t0001g0004 a0002c0004t0001g0062 a0002c0004t0001g0066 a0002c0004t0001g0070 a0002c0004t0001g0091 a0014c0023t0001g0065	45	432	0.1042	c.657 others(3): Show c.657C>T	p.Pro others(6): Show p.Pro219Pro	AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	5/7	718/1215	657/996	219/331	chr1	TogoVar
AKR7A3_chr1_19277573_19293770	19285957	T T	G G	synonymous_variant synonymous_variant	LOW	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0083 a0001c0019t0001g0083	1	432	0.0023	c.438 others(3): Show c.438A>C	p.Ala others(6): Show p.Ala146Ala	AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	3/7	499/1215	438/996	146/331	chr1	TogoVar
AKR7A3_chr1_19277573_19293770	19286230	G G	A A	synonymous_variant synonymous_variant	LOW	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0001 a0002c0025t0001	a0002c0025t0001g0056 a0002c0025t0001g0056	1	432	0.0023	c.357 others(3): Show c.357C>T	p.Thr others(6): Show p.Thr119Thr	AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	2/7	418/1215	357/996	119/331	chr1	TogoVar
AKR7A3_chr1_19277573_19293770	19288548	G G	A A	synonymous_variant synonymous_variant	LOW	HG00408.hp2 HG02155.hp2 HG02165.hp1 others(7): Show HG00408.hp2 HG02155.hp2 HG02165.hp1 HG02698.hp1 HG04199.hp2 NA18612.hp1 NA18941.hp2 NA18945.hp2 NA19003.hp1 NA19007.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0002 a0002c0008t0002	a0002c0008t0002g0010 a0002c0008t0002g0039 a0002c0008t0002g0010 a0002c0008t0002g0039	10	432	0.0232	c.162 others(3): Show c.162C>T	p.Ser others(5): Show p.Ser54Ser	AKR7A3	ENSG00000162482.5	transcript	ENST00000361640.5	protein_coding	1/7	223/1215	162/996	54/331	chr1	TogoVar
AKT1S1_chr19_49864039_49882355	49871607	G G	A A	synonymous_variant synonymous_variant	LOW	HG03130.hp2 HG06807.hp2 NA18906.hp1 HG03130.hp2 HG06807.hp2 NA18906.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0031 a0001c0002t0001g0077 a0001c0002t0001g0031 a0001c0002t0001g0077	3	420	0.0071	c.567 others(3): Show c.567C>T	p.Pro others(6): Show p.Pro189Pro	AKT1S1	ENSG00000204673.11	transcript	ENST00000344175.10	protein_coding	4/5	693/1775	567/771	189/256	chr19	TogoVar
AKT1S1_chr19_49864039_49882355	49871813	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02523.hp1 NA19058.hp1 HG02523.hp1 NA19058.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0082 a0001c0003t0003g0084 a0001c0003t0003g0082 a0001c0003t0003g0084	2	420	0.0048	c.456 others(3): Show c.456T>C	p.Asp others(6): Show p.Asp152Asp	AKT1S1	ENSG00000204673.11	transcript	ENST00000344175.10	protein_coding	3/5	582/1775	456/771	152/256	chr19	TogoVar
AKT1S1_chr19_49864039_49882355	49872945	C C	A A	synonymous_variant synonymous_variant	LOW	HG01255.hp2 HG02572.hp1 HG01255.hp2 HG02572.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0028 a0001c0004t0001g0028	2	420	0.0048	c.351 others(3): Show c.351G>T	p.Gly others(6): Show p.Gly117Gly	AKT1S1	ENSG00000204673.11	transcript	ENST00000344175.10	protein_coding	2/5	477/1775	351/771	117/256	chr19	TogoVar
AKT1S1_chr19_49864039_49882355	49872948	G G	A A	synonymous_variant synonymous_variant	LOW	HG02572.hp2 HG03041.hp2 HG02572.hp2 HG03041.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0029 a0001c0005t0001g0029	2	420	0.0048	c.348 others(3): Show c.348C>T	p.Ser others(6): Show p.Ser116Ser	AKT1S1	ENSG00000204673.11	transcript	ENST00000344175.10	protein_coding	2/5	474/1775	348/771	116/256	chr19	TogoVar
AKT1S1_chr19_49864039_49882355	49873131	C C	T T	synonymous_variant synonymous_variant	LOW	HG02647.hp2 HG02647.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0052 a0001c0007t0001g0052	1	420	0.0024	c.165 others(3): Show c.165G>A	p.Ala others(5): Show p.Ala55Ala	AKT1S1	ENSG00000204673.11	transcript	ENST00000344175.10	protein_coding	2/5	291/1775	165/771	55/256	chr19	TogoVar
AKT1S1_chr19_49864039_49882355	49873197	C C	T T	synonymous_variant synonymous_variant	LOW	NA18906.hp2 NA18906.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0057 a0001c0006t0001g0057	1	420	0.0024	c.99G others(2): Show c.99G>A	p.Ala others(5): Show p.Ala33Ala	AKT1S1	ENSG00000204673.11	transcript	ENST00000344175.10	protein_coding	2/5	225/1775	99/771	33/256	chr19	TogoVar
AKT1S1_chr19_49864039_49882355	49873200	G G	A A	synonymous_variant synonymous_variant	LOW	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0006 a0001c0009t0006	a0001c0009t0006g0039 a0001c0009t0006g0039	1	420	0.0024	c.96C others(2): Show c.96C>T	p.Thr others(5): Show p.Thr32Thr	AKT1S1	ENSG00000204673.11	transcript	ENST00000344175.10	protein_coding	2/5	222/1775	96/771	32/256	chr19	TogoVar
AKT1S1_chr19_49864039_49882355	49873248	G G	A A	synonymous_variant synonymous_variant	LOW	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0048 a0001c0010t0001g0048	1	420	0.0024	c.48C others(2): Show c.48C>T	p.Ala others(5): Show p.Ala16Ala	AKT1S1	ENSG00000204673.11	transcript	ENST00000344175.10	protein_coding	2/5	174/1775	48/771	16/256	chr19	TogoVar
AKT1_chr14_104764349_104800748	104770353	G G	A A	synonymous_variant synonymous_variant	LOW	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0108 a0001c0010t0001g0108	1	386	0.0026	c.143 others(4): Show c.1431C>T	p.Ser others(6): Show p.Ser477Ser	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	15/15	1953/2957	1431/1443	477/480	chr14	TogoVar
AKT1_chr14_104764349_104800748	104770395	G G	A A	synonymous_variant synonymous_variant	LOW	HG03041.hp2 HG03130.hp1 HG03041.hp2 HG03130.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0253 a0001c0007t0003g0280 a0001c0007t0003g0253 a0001c0007t0003g0280	2	386	0.0052	c.138 others(4): Show c.1389C>T	p.Ser others(6): Show p.Ser463Ser	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	15/15	1911/2957	1389/1443	463/480	chr14	TogoVar
AKT1_chr14_104764349_104800748	104772374	G G	A A	synonymous_variant synonymous_variant	LOW	HG01516.hp2 HG01981.hp2 HG02683.hp1 others(2): Show HG01516.hp2 HG01981.hp2 HG02683.hp1 HG02683.hp2 HG04115.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0021 a0001c0005t0001 a0001c0005t0021	a0001c0005t0001g0132 a0001c0005t0001g0183 a0001c0005t0001g0219 others(2): Show a0001c0005t0001g0132 a0001c0005t0001g0183 a0001c0005t0001g0219 a0001c0005t0001g0291 a0001c0005t0021g0074	5	386	0.0130	c.125 others(4): Show c.1251C>T	p.Tyr others(6): Show p.Tyr417Tyr	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	13/15	1773/2957	1251/1443	417/480	chr14	TogoVar
AKT1_chr14_104764349_104800748	104772398	G G	A A	synonymous_variant synonymous_variant	LOW	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0003 a0001c0011t0003	a0001c0011t0003g0213 a0001c0011t0003g0213	1	386	0.0026	c.122 others(4): Show c.1227C>T	p.Ala others(6): Show p.Ala409Ala	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	13/15	1749/2957	1227/1443	409/480	chr14	TogoVar
AKT1_chr14_104764349_104800748	104772446	G G	A A	synonymous_variant synonymous_variant	LOW	HG01167.hp2 HG01169.hp2 HG02886.hp1 HG01167.hp2 HG01169.hp2 HG02886.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0252 a0001c0006t0002g0285 a0001c0006t0002g0286 a0001c0006t0002g0252 a0001c0006t0002g0285 a0001c0006t0002g0286	3	386	0.0078	c.117 others(4): Show c.1179C>T	p.Gly others(6): Show p.Gly393Gly	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	13/15	1701/2957	1179/1443	393/480	chr14	TogoVar
AKT1_chr14_104764349_104800748	104773557	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00438.hp1 HG00438.hp2 others(131): Show HG00099.hp1 HG00438.hp1 HG00438.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00738.hp1 HG01069.hp1 HG01099.hp2 HG01106.hp2 HG01109.hp1 HG01168.hp1 HG01169.hp1 HG01192.hp1 HG01243.hp2 HG01256.hp2 HG01257.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp1 HG01934.hp2 HG01952.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG02004.hp1 HG02004.hp2 HG02027.hp1 HG02040.hp1 HG02040.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02572.hp1 HG02735.hp1 HG02976.hp1 HG03017.hp2 HG03239.hp1 HG03239.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp1 HG03654.hp2 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03834.hp2 HG04115.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18944.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18953.hp2 NA18954.hp1 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18962.hp2 NA18963.hp1 NA18969.hp1 NA18970.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18985.hp2 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18997.hp1 NA18998.hp2 NA18999.hp1 NA19000.hp1 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19009.hp1 NA19009.hp2 NA19011.hp2 NA19012.hp2 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19058.hp1 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19066.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19081.hp1 NA19081.hp2 NA19084.hp2 NA19085.hp1 NA19087.hp2 NA19088.hp2 NA19090.hp2 NA20300.hp1 NA20300.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0010 a0001c0002 a0001c0008 a0001c0010	a0001c0002t0001 a0001c0002t0015 a0001c0002t0019 others(2): Show a0001c0002t0001 a0001c0002t0015 a0001c0002t0019 a0001c0008t0001 a0001c0010t0001	a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(92): Show a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0005 a0001c0002t0001g0006 a0001c0002t0001g0007 a0001c0002t0001g0008 a0001c0002t0001g0009 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0016 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0021 a0001c0002t0001g0033 a0001c0002t0001g0044 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0053 a0001c0002t0001g0055 a0001c0002t0001g0056 a0001c0002t0001g0057 a0001c0002t0001g0058 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0063 a0001c0002t0001g0064 a0001c0002t0001g0067 a0001c0002t0001g0072 a0001c0002t0001g0073 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0090 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0098 a0001c0002t0001g0100 a0001c0002t0001g0104 a0001c0002t0001g0105 a0001c0002t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0109 a0001c0002t0001g0114 a0001c0002t0001g0115 a0001c0002t0001g0116 a0001c0002t0001g0123 a0001c0002t0001g0126 a0001c0002t0001g0128 a0001c0002t0001g0136 a0001c0002t0001g0139 a0001c0002t0001g0147 a0001c0002t0001g0151 a0001c0002t0001g0152 a0001c0002t0001g0153 a0001c0002t0001g0155 a0001c0002t0001g0158 a0001c0002t0001g0163 a0001c0002t0001g0168 a0001c0002t0001g0175 a0001c0002t0001g0189 a0001c0002t0001g0191 a0001c0002t0001g0193 a0001c0002t0001g0194 a0001c0002t0001g0216 a0001c0002t0001g0232 a0001c0002t0001g0233 a0001c0002t0001g0250 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0260 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0268 a0001c0002t0001g0276 a0001c0002t0001g0290 a0001c0002t0001g0294 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0299 a0001c0002t0015g0167 a0001c0002t0019g0122 a0001c0008t0001g0042 a0001c0010t0001g0108	134	386	0.3472	c.726 others(3): Show c.726G>A	p.Glu others(6): Show p.Glu242Glu	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	10/15	1248/2957	726/1443	242/480	chr14	TogoVar
AKT1_chr14_104764349_104800748	104774967	G G	A A	synonymous_variant synonymous_variant	LOW	HG01358.hp1 HG02055.hp1 HG02109.hp2 others(10): Show HG01358.hp1 HG02055.hp1 HG02109.hp2 HG02622.hp1 HG02717.hp2 HG02922.hp1 HG03139.hp1 HG03195.hp1 HG03209.hp1 HG03471.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0013 a0001c0003t0003g0015 a0001c0003t0003g0036 others(5): Show a0001c0003t0003g0013 a0001c0003t0003g0015 a0001c0003t0003g0036 a0001c0003t0003g0234 a0001c0003t0003g0238 a0001c0003t0003g0244 a0001c0003t0003g0248 a0001c0003t0003g0311	13	386	0.0337	c.604 others(3): Show c.604C>T	p.Leu others(6): Show p.Leu202Leu	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	8/15	1126/2957	604/1443	202/480	chr14	TogoVar
AKT1_chr14_104764349_104800748	104775085	G G	A A	synonymous_variant synonymous_variant	LOW	HG01891.hp2 HG02055.hp2 HG02258.hp2 others(7): Show HG01891.hp2 HG02055.hp2 HG02258.hp2 HG02976.hp1 HG03098.hp1 HG03195.hp2 HG03453.hp2 HG06807.hp2 NA18522.hp1 NA20300.hp2	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0001 a0001c0004t0009 a0001c0008t0001 a0001c0004t0001 a0001c0004t0009 a0001c0008t0001	a0001c0004t0001g0048 a0001c0004t0001g0208 a0001c0004t0001g0245 others(5): Show a0001c0004t0001g0048 a0001c0004t0001g0208 a0001c0004t0001g0245 a0001c0004t0001g0287 a0001c0004t0001g0306 a0001c0004t0009g0235 a0001c0004t0009g0236 a0001c0008t0001g0042	10	386	0.0259	c.558 others(3): Show c.558C>T	p.Ile others(6): Show p.Ile186Ile	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	7/15	1080/2957	558/1443	186/480	chr14	TogoVar
AKT1_chr14_104764349_104800748	104792635	G G	A A	synonymous_variant synonymous_variant	LOW	NA18956.hp2 NA19002.hp1 NA18956.hp2 NA19002.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0214 a0001c0009t0001g0215 a0001c0009t0001g0214 a0001c0009t0001g0215	2	386	0.0052	c.9C> others(1): Show c.9C>T	p.Asp others(4): Show p.Asp3Asp	AKT1	ENSG00000142208.18	transcript	ENST00000649815.2	protein_coding	3/15	531/2957	9/1443	3/480	chr14	TogoVar
AKT2_chr19_40225317_40290345	40255241	C C	T T	synonymous_variant synonymous_variant	LOW	HG03041.hp2 HG03041.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0034 a0001c0004t0034	a0001c0004t0034g0014 a0001c0004t0034g0014	1	360	0.0028	c.204 others(3): Show c.204G>A	p.Pro others(5): Show p.Pro68Pro	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding	4/14	453/5250	204/1446	68/481	chr19	TogoVar
AKT2_chr19_40225317_40290345	40257008	G G	A A	synonymous_variant synonymous_variant	LOW	HG00140.hp2 HG00423.hp2 HG00738.hp1 HG00140.hp2 HG00423.hp2 HG00738.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0181 a0001c0002t0001g0168 a0001c0002t0001g0170 a0001c0002t0001g0181	3	360	0.0083	c.93C others(2): Show c.93C>T	p.Ser others(5): Show p.Ser31Ser	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding	3/14	342/5250	93/1446	31/481	chr19	TogoVar
AKT3_chr1_243494724_243855243	243552848	G G	A A	synonymous_variant synonymous_variant	LOW	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0168 a0001c0002t0003g0168	1	301	0.0033	c.104 others(4): Show c.1044C>T	p.Asn others(6): Show p.Asn348Asn	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	11/14	1360/7281	1044/1440	348/479	chr1	TogoVar
AKTIP_chr16_53486040_53508209	53492478	G G	C C	synonymous_variant synonymous_variant	LOW	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0062 a0001c0003t0001g0062	1	386	0.0026	c.813 others(3): Show c.813C>G	p.Gly others(6): Show p.Gly271Gly	AKTIP	ENSG00000166971.17	transcript	ENST00000394657.12	protein_coding	10/10	946/2384	813/879	271/292	chr16	TogoVar
AKTIP_chr16_53486040_53508209	53494167	T T	C C	synonymous_variant synonymous_variant	LOW	HG02109.hp1 HG02257.hp2 HG02451.hp1 others(14): Show HG02109.hp1 HG02257.hp2 HG02451.hp1 HG02572.hp2 HG02630.hp1 HG02818.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03225.hp2 HG06807.hp1 NA18906.hp2 NA19043.hp2 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0002t0008 a0001c0002t0010	a0001c0002t0001g0051 a0001c0002t0003g0018 a0001c0002t0003g0030 others(7): Show a0001c0002t0001g0051 a0001c0002t0003g0018 a0001c0002t0003g0030 a0001c0002t0003g0041 a0001c0002t0003g0045 a0001c0002t0003g0048 a0001c0002t0003g0072 a0001c0002t0006g0013 a0001c0002t0008g0020 a0001c0002t0010g0052	17	386	0.0440	c.681 others(3): Show c.681A>G	p.Gln others(6): Show p.Gln227Gln	AKTIP	ENSG00000166971.17	transcript	ENST00000394657.12	protein_coding	8/10	814/2384	681/879	227/292	chr16	TogoVar
ALAD_chr9_113381312_113406284	113390611	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(45): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01255.hp1 HG01358.hp1 HG01433.hp2 HG01515.hp2 HG01517.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02273.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03209.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp1 NA18522.hp1 NA18954.hp1 NA18955.hp1 NA18974.hp1 NA18993.hp1 NA19004.hp2 NA19007.hp1 NA19056.hp2 NA19060.hp1 NA19084.hp1 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0006 a0001c0003 a0001c0005 a0001c0006	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(9): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0011 a0001c0003t0017 a0001c0003t0018 a0001c0003t0023 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004 a0001c0006t0007	a0001c0003t0001g0028 a0001c0003t0001g0059 a0001c0003t0001g0080 others(32): Show a0001c0003t0001g0028 a0001c0003t0001g0059 a0001c0003t0001g0080 a0001c0003t0001g0100 a0001c0003t0001g0102 a0001c0003t0001g0177 a0001c0003t0001g0229 a0001c0003t0001g0243 a0001c0003t0001g0274 a0001c0003t0001g0287 a0001c0003t0002g0011 a0001c0003t0002g0062 a0001c0003t0002g0101 a0001c0003t0002g0168 a0001c0003t0002g0176 a0001c0003t0002g0179 a0001c0003t0002g0271 a0001c0003t0003g0046 a0001c0003t0003g0069 a0001c0003t0003g0259 a0001c0003t0003g0281 a0001c0003t0004g0036 a0001c0003t0004g0075 a0001c0003t0004g0178 a0001c0003t0004g0196 a0001c0003t0011g0175 a0001c0003t0011g0286 a0001c0003t0017g0300 a0001c0003t0018g0282 a0001c0003t0023g0107 a0001c0005t0001g0014 a0001c0005t0003g0226 a0001c0005t0004g0227 a0001c0006t0007g0030 a0001c0006t0007g0279	48	446	0.1076	c.463 others(3): Show c.463T>C	p.Leu others(6): Show p.Leu155Leu	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding	6/12	611/3129	463/993	155/330	chr9	TogoVar
ALAD_chr9_113381312_113406284	113390660	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp2 HG00323.hp2 others(39): Show HG00099.hp2 HG00140.hp2 HG00323.hp2 HG00438.hp2 HG00735.hp1 HG00738.hp1 HG01070.hp1 HG01081.hp1 HG01081.hp2 HG01168.hp2 HG01169.hp2 HG01515.hp2 HG01517.hp2 HG02074.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02155.hp2 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03209.hp1 HG03704.hp1 HG03704.hp2 HG03834.hp2 HG03942.hp1 NA18522.hp1 NA18954.hp1 NA18955.hp1 NA18974.hp1 NA18993.hp1 NA19004.hp2 NA19007.hp1 NA19056.hp2 NA19060.hp1 NA19084.hp1 NA19090.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 others(6): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0011 a0001c0003t0017 a0001c0003t0018 a0001c0003t0023 a0001c0006t0007	a0001c0003t0001g0028 a0001c0003t0001g0059 a0001c0003t0001g0080 others(29): Show a0001c0003t0001g0028 a0001c0003t0001g0059 a0001c0003t0001g0080 a0001c0003t0001g0100 a0001c0003t0001g0102 a0001c0003t0001g0177 a0001c0003t0001g0229 a0001c0003t0001g0243 a0001c0003t0001g0274 a0001c0003t0001g0287 a0001c0003t0002g0011 a0001c0003t0002g0062 a0001c0003t0002g0101 a0001c0003t0002g0168 a0001c0003t0002g0176 a0001c0003t0002g0179 a0001c0003t0002g0271 a0001c0003t0003g0046 a0001c0003t0003g0069 a0001c0003t0003g0259 a0001c0003t0003g0281 a0001c0003t0004g0036 a0001c0003t0004g0075 a0001c0003t0004g0178 a0001c0003t0004g0196 a0001c0003t0011g0175 a0001c0003t0011g0286 a0001c0003t0017g0300 a0001c0003t0018g0282 a0001c0003t0023g0107 a0001c0006t0007g0030 a0001c0006t0007g0279	42	446	0.0942	c.414 others(3): Show c.414C>T	p.Asn others(6): Show p.Asn138Asn	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding	6/12	562/3129	414/993	138/330	chr9	TogoVar
ALAD_chr9_113381312_113406284	113390835	A A	G G	synonymous_variant synonymous_variant	LOW	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0290 a0001c0010t0001g0290	1	446	0.0022	c.360 others(3): Show c.360T>C	p.Asp others(6): Show p.Asp120Asp	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding	5/12	508/3129	360/993	120/330	chr9	TogoVar
ALAD_chr9_113381312_113406284	113391620	A A	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG00140.hp1 HG00140.hp2 others(171): Show HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00323.hp2 HG00438.hp2 HG00597.hp2 HG00609.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01069.hp1 HG01070.hp1 HG01081.hp1 HG01099.hp1 HG01123.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp1 HG01433.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp2 HG01934.hp2 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02015.hp1 HG02040.hp2 HG02056.hp1 HG02074.hp2 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02155.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02273.hp2 HG02300.hp2 HG02486.hp2 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02647.hp1 HG02698.hp1 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03239.hp2 HG03453.hp2 HG03579.hp1 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03831.hp1 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG04228.hp1 NA18522.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18939.hp2 NA18941.hp1 NA18943.hp1 NA18946.hp1 NA18946.hp2 NA18949.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18960.hp1 NA18962.hp2 NA18964.hp1 NA18965.hp2 NA18967.hp2 NA18968.hp1 NA18968.hp2 NA18974.hp1 NA18980.hp1 NA18982.hp2 NA18985.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp1 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18998.hp2 NA19001.hp1 NA19004.hp2 NA19005.hp2 NA19006.hp1 NA19007.hp1 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19054.hp2 NA19055.hp1 NA19056.hp1 NA19056.hp2 NA19060.hp1 NA19062.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19065.hp1 NA19065.hp2 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19081.hp1 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp1 NA19087.hp1 NA19087.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA20300.hp2 NA20752.hp1 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 a0001c0002 a0001c0003 a0001c0005	a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 others(19): Show a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004 a0001c0002t0005 a0001c0002t0006 a0001c0002t0012 a0001c0002t0015 a0001c0002t0019 a0001c0002t0021 a0001c0002t0024 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0011 a0001c0003t0017 a0001c0003t0018 a0001c0003t0023 a0001c0005t0001 a0001c0005t0003 a0001c0005t0004	a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0012 others(113): Show a0001c0002t0001g0002 a0001c0002t0001g0005 a0001c0002t0001g0012 a0001c0002t0001g0015 a0001c0002t0001g0017 a0001c0002t0001g0042 a0001c0002t0001g0044 a0001c0002t0001g0050 a0001c0002t0001g0064 a0001c0002t0001g0072 a0001c0002t0001g0077 a0001c0002t0001g0099 a0001c0002t0001g0125 a0001c0002t0001g0154 a0001c0002t0001g0180 a0001c0002t0001g0182 a0001c0002t0001g0199 a0001c0002t0001g0205 a0001c0002t0001g0216 a0001c0002t0001g0230 a0001c0002t0001g0241 a0001c0002t0001g0250 a0001c0002t0001g0267 a0001c0002t0001g0273 a0001c0002t0001g0276 a0001c0002t0001g0280 a0001c0002t0001g0288 a0001c0002t0001g0297 a0001c0002t0001g0301 a0001c0002t0002g0003 a0001c0002t0002g0054 a0001c0002t0002g0056 a0001c0002t0002g0060 a0001c0002t0002g0066 a0001c0002t0002g0108 a0001c0002t0002g0118 a0001c0002t0002g0127 a0001c0002t0002g0128 a0001c0002t0002g0147 a0001c0002t0002g0148 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0163 a0001c0002t0002g0169 a0001c0002t0002g0181 a0001c0002t0002g0195 a0001c0002t0002g0197 a0001c0002t0002g0198 a0001c0002t0002g0201 a0001c0002t0002g0203 a0001c0002t0002g0218 a0001c0002t0002g0238 a0001c0002t0002g0248 a0001c0002t0002g0255 a0001c0002t0002g0260 a0001c0002t0002g0275 a0001c0002t0002g0283 a0001c0002t0003g0020 a0001c0002t0003g0021 a0001c0002t0003g0052 a0001c0002t0003g0165 a0001c0002t0003g0202 a0001c0002t0003g0249 a0001c0002t0003g0253 a0001c0002t0003g0269 a0001c0002t0003g0270 a0001c0002t0004g0049 a0001c0002t0004g0068 a0001c0002t0004g0103 a0001c0002t0004g0109 a0001c0002t0004g0200 a0001c0002t0004g0219 a0001c0002t0004g0231 a0001c0002t0004g0262 a0001c0002t0005g0131 a0001c0002t0005g0164 a0001c0002t0005g0251 a0001c0002t0006g0027 a0001c0002t0012g0247 a0001c0002t0015g0261 a0001c0002t0019g0076 a0001c0002t0021g0078 a0001c0002t0024g0204 a0001c0003t0001g0028 a0001c0003t0001g0059 a0001c0003t0001g0080 a0001c0003t0001g0100 a0001c0003t0001g0102 a0001c0003t0001g0177 a0001c0003t0001g0229 a0001c0003t0001g0243 a0001c0003t0001g0274 a0001c0003t0001g0287 a0001c0003t0002g0011 a0001c0003t0002g0062 a0001c0003t0002g0101 a0001c0003t0002g0168 a0001c0003t0002g0176 a0001c0003t0002g0179 a0001c0003t0002g0271 a0001c0003t0003g0046 a0001c0003t0003g0069 a0001c0003t0003g0259 a0001c0003t0003g0281 a0001c0003t0004g0036 a0001c0003t0004g0075 a0001c0003t0004g0178 a0001c0003t0004g0196 a0001c0003t0011g0175 a0001c0003t0011g0286 a0001c0003t0017g0300 a0001c0003t0018g0282 a0001c0003t0023g0107 a0001c0005t0001g0014 a0001c0005t0003g0226 a0001c0005t0004g0227	174	446	0.3901	c.168 others(3): Show c.168T>C	p.Tyr others(5): Show p.Tyr56Tyr	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding	4/12	316/3129	168/993	56/330	chr9	TogoVar
ALAD_chr9_113381312_113406284	113392142	G G	A A	synonymous_variant synonymous_variant	LOW	HG02886.hp2 HG02965.hp2 HG02886.hp2 HG02965.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0045 a0001c0007t0001g0045	2	446	0.0045	c.141 others(3): Show c.141C>T	p.Ile others(5): Show p.Ile47Ile	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding	3/12	289/3129	141/993	47/330	chr9	TogoVar
ALAD_chr9_113381312_113406284	113393488	G G	A A	synonymous_variant synonymous_variant	LOW	HG03492.hp2 HG04115.hp2 HG03492.hp2 HG04115.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0005 a0001c0008t0005	a0001c0008t0005g0055 a0001c0008t0005g0055	2	446	0.0045	c.72C others(2): Show c.72C>T	p.Thr others(5): Show p.Thr24Thr	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding	2/12	220/3129	72/993	24/330	chr9	TogoVar
ALAD_chr9_113381312_113406284	113393545	G G	A A	synonymous_variant synonymous_variant	LOW	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0003 a0001c0012t0003	a0001c0012t0003g0239 a0001c0012t0003g0239	1	446	0.0022	c.15C others(2): Show c.15C>T	p.Ser others(4): Show p.Ser5Ser	ALAD	ENSG00000148218.16	transcript	ENST00000409155.8	protein_coding	2/12	163/3129	15/993	5/330	chr9	TogoVar
ALAS1_chr3_52193160_52219327	52202643	A A	G G	synonymous_variant synonymous_variant	LOW	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0008 a0001c0012t0001g0008	1	354	0.0028	c.336 others(3): Show c.336A>G	p.Ala others(6): Show p.Ala112Ala	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding	4/12	641/2375	336/1923	112/640	chr3	TogoVar
ALAS1_chr3_52193160_52219327	52203912	T T	C C	synonymous_variant synonymous_variant	LOW	NA18990.hp1 NA19066.hp2 NA18990.hp1 NA19066.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0001 a0001c0005t0001g0001	2	354	0.0057	c.477 others(3): Show c.477T>C	p.Asp others(6): Show p.Asp159Asp	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding	5/12	782/2375	477/1923	159/640	chr3	TogoVar
ALAS1_chr3_52193160_52219327	52203954	C C	T T	synonymous_variant synonymous_variant	LOW	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(147): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00438.hp2 HG00544.hp2 HG00558.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00642.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp1 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01123.hp1 HG01123.hp2 HG01169.hp1 HG01192.hp1 HG01192.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp2 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02257.hp2 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02572.hp1 HG02622.hp1 HG02683.hp1 HG02717.hp1 HG02723.hp2 HG02818.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03017.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03209.hp2 HG03239.hp1 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03688.hp2 HG03704.hp1 HG03704.hp2 HG03834.hp1 HG04184.hp1 HG04228.hp1 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18939.hp2 NA18943.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18949.hp2 NA18952.hp1 NA18953.hp2 NA18956.hp1 NA18957.hp2 NA18961.hp2 NA18964.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18975.hp2 NA18980.hp1 NA18982.hp2 NA18986.hp2 NA18988.hp1 NA18988.hp2 NA18990.hp2 NA18992.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19003.hp2 NA19005.hp2 NA19007.hp1 NA19009.hp1 NA19010.hp2 NA19011.hp2 NA19030.hp2 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp1 NA19063.hp2 NA19065.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2 NA19078.hp1 NA19079.hp2 NA19083.hp2 NA19085.hp2 NA19087.hp1 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA20129.hp2 NA20752.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0002 a0001c0011 a0003c0016 others(1): Show a0001c0002 a0001c0011 a0003c0016 a0006c0013	a0001c0002t0001 a0001c0002t0003 a0001c0011t0001 others(2): Show a0001c0002t0001 a0001c0002t0003 a0001c0011t0001 a0003c0016t0001 a0006c0013t0001	a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0010 others(40): Show a0001c0002t0001g0002 a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0013 a0001c0002t0001g0014 a0001c0002t0001g0017 a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0020 a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0030 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0074 a0001c0002t0001g0075 a0001c0002t0001g0076 a0001c0002t0001g0077 a0001c0002t0001g0078 a0001c0002t0001g0079 a0001c0002t0001g0080 a0001c0002t0001g0081 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0091 a0001c0002t0001g0092 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0095 a0001c0002t0003g0031 a0001c0011t0001g0002 a0003c0016t0001g0089 a0006c0013t0001g0011	150	354	0.4237	c.519 others(3): Show c.519C>T	p.Ile others(6): Show p.Ile173Ile	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding	5/12	824/2375	519/1923	173/640	chr3	TogoVar
ALAS1_chr3_52193160_52219327	52205911	G G	A A	synonymous_variant synonymous_variant	LOW	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0039 a0001c0008t0001g0039	1	354	0.0028	c.873 others(3): Show c.873G>A	p.Val others(6): Show p.Val291Val	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding	7/12	1178/2375	873/1923	291/640	chr3	TogoVar
ALAS1_chr3_52193160_52219327	52208087	G G	A A	synonymous_variant synonymous_variant	LOW	HG01358.hp1 HG01928.hp2 HG01934.hp2 others(6): Show HG01358.hp1 HG01928.hp2 HG01934.hp2 HG01943.hp1 HG02293.hp1 HG03834.hp2 HG04204.hp1 NA19058.hp1 NA19089.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0003 a0002c0004 a0004c0007 a0001c0003 a0002c0004 a0004c0007	a0001c0003t0001 a0002c0004t0001 a0004c0007t0001 a0001c0003t0001 a0002c0004t0001 a0004c0007t0001	a0001c0003t0001g0001 a0001c0003t0001g0006 a0001c0003t0001g0051 others(3): Show a0001c0003t0001g0001 a0001c0003t0001g0006 a0001c0003t0001g0051 a0002c0004t0001g0016 a0002c0004t0001g0071 a0004c0007t0001g0016	9	354	0.0254	c.117 others(4): Show c.1170G>A	p.Ala others(6): Show p.Ala390Ala	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding	9/12	1475/2375	1170/1923	390/640	chr3	TogoVar
ALAS1_chr3_52193160_52219327	52211506	C C	T T	synonymous_variant synonymous_variant	LOW	HG02027.hp1 NA18961.hp1 HG02027.hp1 NA18961.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0001 a0001c0006t0001g0001	2	354	0.0057	c.155 others(4): Show c.1554C>T	p.Ala others(6): Show p.Ala518Ala	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding	10/12	1859/2375	1554/1923	518/640	chr3	TogoVar
ALAS1_chr3_52193160_52219327	52212332	C C	A A	synonymous_variant synonymous_variant	LOW	HG00738.hp2 HG00738.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0001 a0001c0011t0001	a0001c0011t0001g0002 a0001c0011t0001g0002	1	354	0.0028	c.167 others(4): Show c.1674C>A	p.Ile others(6): Show p.Ile558Ile	ALAS1	ENSG00000023330.15	transcript	ENST00000484952.6	protein_coding	11/12	1979/2375	1674/1923	558/640	chr3	TogoVar
ALAS2_chrX_55004055_55035977	55009318	C C	T T	synonymous_variant synonymous_variant	LOW	HG02257.hp2 HG02970.hp1 HG02257.hp2 HG02970.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0047 a0001c0003t0002g0110 a0001c0003t0002g0047 a0001c0003t0002g0110	2	284	0.0070	c.162 others(4): Show c.1626G>A	p.Ala others(6): Show p.Ala542Ala	ALAS2	ENSG00000158578.21	transcript	ENST00000650242.1	protein_coding	11/11	1677/1940	1626/1764	542/587	chrX	TogoVar
ALAS2_chrX_55004055_55035977	55015579	A A	C C	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG02647.hp1 HG03453.hp2 HG02647.hp1 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0037 a0001c0004t0001g0037	2	284	0.0070	c.116 others(4): Show c.1167T>G	p.Leu others(6): Show p.Leu389Leu	ALAS2	ENSG00000158578.21	transcript	ENST00000650242.1	protein_coding	8/11	1218/1940	1167/1764	389/587	chrX	TogoVar
ALAS2_chrX_55004055_55035977	55015654	C C	T T	synonymous_variant synonymous_variant	LOW	HG02647.hp1 HG03453.hp2 HG02647.hp1 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0037 a0001c0004t0001g0037	2	284	0.0070	c.109 others(4): Show c.1092G>A	p.Leu others(6): Show p.Leu364Leu	ALAS2	ENSG00000158578.21	transcript	ENST00000650242.1	protein_coding	8/11	1143/1940	1092/1764	364/587	chrX	TogoVar
ALAS2_chrX_55004055_55035977	55015684	G G	C C	synonymous_variant synonymous_variant	LOW	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0124 a0001c0007t0001g0124	1	284	0.0035	c.106 others(4): Show c.1062C>G	p.Thr others(6): Show p.Thr354Thr	ALAS2	ENSG00000158578.21	transcript	ENST00000650242.1	protein_coding	8/11	1113/1940	1062/1764	354/587	chrX	TogoVar

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