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
AP3D1_chr19_2095988_2156566	2116623	G G	C C	missense_variant missense_variant	MODERATE	NA19060.hp1 NA19060.hp1	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0002 a0006c0019t0002	a0006c0019t0002g0038 a0006c0019t0002g0038	1	406	0.0025	c.198 others(4): Show c.1983C>G	p.Asp others(6): Show p.Asp661Glu	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	17/32	2215/5065	1983/3648	661/1215	chr19	TogoVar
AP3D1_chr19_2095988_2156566	2118611	A A	G G	missense_variant missense_variant	MODERATE	NA18994.hp2 NA18994.hp2	a0004 a0004	a0004c0013 a0004c0013	a0004c0013t0002 a0004c0013t0002	a0004c0013t0002g0245 a0004c0013t0002g0245	1	406	0.0025	c.170 others(4): Show c.1703T>C	p.Val others(6): Show p.Val568Ala	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	15/32	1935/5065	1703/3648	568/1215	chr19	TogoVar
AP3D1_chr19_2095988_2156566	2118693	C C	T T	missense_variant missense_variant	MODERATE	HG00735.hp1 HG01515.hp2 HG01517.hp1 others(12): Show HG00735.hp1 HG01515.hp2 HG01517.hp1 HG02258.hp1 HG02486.hp2 HG02735.hp2 HG02922.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03710.hp2 NA19043.hp1 NA21309.hp2	a0002 a0002	a0002c0007 a0002c0009 a0002c0007 a0002c0009	a0002c0007t0004 a0002c0009t0002 a0002c0007t0004 a0002c0009t0002	a0002c0007t0004g0386 a0002c0007t0004g0387 a0002c0007t0004g0388 others(12): Show a0002c0007t0004g0386 a0002c0007t0004g0387 a0002c0007t0004g0388 a0002c0007t0004g0389 a0002c0007t0004g0390 a0002c0007t0004g0391 a0002c0007t0004g0392 a0002c0007t0004g0393 a0002c0007t0004g0394 a0002c0007t0004g0395 a0002c0009t0002g0265 a0002c0009t0002g0276 a0002c0009t0002g0277 a0002c0009t0002g0278 a0002c0009t0002g0292	15	406	0.0370	c.162 others(4): Show c.1621G>A	p.Gly others(6): Show p.Gly541Arg	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	15/32	1853/5065	1621/3648	541/1215	chr19	TogoVar
AP3D1_chr19_2095988_2156566	2118738	C C	T T	missense_variant missense_variant	MODERATE	HG02717.hp2 HG02717.hp2	a0003 a0003	a0003c0024 a0003c0024	a0003c0024t0001 a0003c0024t0001	a0003c0024t0001g0283 a0003c0024t0001g0283	1	406	0.0025	c.157 others(4): Show c.1576G>A	p.Val others(6): Show p.Val526Met	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	15/32	1808/5065	1576/3648	526/1215	chr19	TogoVar
AP3M2_chr8_42148063_42176183	42162413	A A	T T	missense_variant missense_variant	MODERATE	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0034 a0002c0004t0001g0034	1	392	0.0026	c.578 others(3): Show c.578A>T	p.Lys others(6): Show p.Lys193Ile	AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding	4/9	693/3494	578/1257	193/418	chr8	TogoVar
AP3S1_chr5_115836935_115919081	115913362	G G	A A	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG03130.hp1 NA18906.hp1 HG03130.hp1 NA18906.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0229 a0002c0002t0001g0230 a0002c0002t0001g0229 a0002c0002t0001g0230	2	378	0.0053	c.454 others(3): Show c.454G>A	p.Ala others(6): Show p.Ala152Thr	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	6/6	557/1276	454/582	152/193	chr5	TogoVar
AP3S2_chr15_89825599_89898994	89888609	T T	C C	missense_variant missense_variant	MODERATE	HG03453.hp2 HG03453.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0016 a0003c0004t0016	a0003c0004t0016g0304 a0003c0004t0016g0304	1	312	0.0032	c.185 others(3): Show c.185A>G	p.Lys others(5): Show p.Lys62Arg	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	3/6	230/5543	185/582	62/193	chr15	TogoVar
AP3S2_chr15_89825599_89898994	89889076	T T	C C	missense_variant missense_variant	MODERATE	HG02559.hp2 HG02970.hp2 NA18906.hp2 HG02559.hp2 HG02970.hp2 NA18906.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0186 a0002c0002t0013g0187 a0002c0002t0013g0310 a0002c0002t0013g0186 a0002c0002t0013g0187 a0002c0002t0013g0310	3	312	0.0096	c.134 others(3): Show c.134A>G	p.Asn others(5): Show p.Asn45Ser	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	2/6	179/5543	134/582	45/193	chr15	TogoVar
AP4B1_chr1_113889194_113909799	113895085	T T	C C	missense_variant missense_variant	MODERATE	NA18947.hp1 NA18947.hp1	a0009 a0009	a0009c0013 a0009c0013	a0009c0013t0002 a0009c0013t0002	a0009c0013t0002g0045 a0009c0013t0002g0045	1	434	0.0023	c.220 others(4): Show c.2200A>G	p.Ile others(6): Show p.Ile734Val	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding	10/10	2282/3173	2200/2220	734/739	chr1	TogoVar
AP4B1_chr1_113889194_113909799	113895097	C C	T T	missense_variant missense_variant	MODERATE	HG02723.hp1 HG02723.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0002 a0008c0012t0002	a0008c0012t0002g0048 a0008c0012t0002g0048	1	434	0.0023	c.218 others(4): Show c.2188G>A	p.Val others(6): Show p.Val730Met	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding	10/10	2270/3173	2188/2220	730/739	chr1	TogoVar
AP4B1_chr1_113889194_113909799	113895763	C C	T T	missense_variant missense_variant	MODERATE	HG01496.hp2 HG01496.hp2	a0010 a0010	a0010c0011 a0010c0011	a0010c0011t0001 a0010c0011t0001	a0010c0011t0001g0071 a0010c0011t0001g0071	1	434	0.0023	c.178 others(4): Show c.1786G>A	p.Ala others(6): Show p.Ala596Thr	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding	9/10	1868/3173	1786/2220	596/739	chr1	TogoVar
AP4B1_chr1_113889194_113909799	113896329	A A	G G	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00621.hp1 HG00738.hp1 others(135): Show HG00099.hp1 HG00621.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01257.hp2 HG01346.hp1 HG01358.hp1 HG01433.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp2 HG01934.hp1 HG01952.hp2 HG02015.hp1 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02717.hp1 HG02717.hp2 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp2 HG02897.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp2 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04115.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18950.hp2 NA18953.hp1 NA18956.hp1 NA18956.hp2 NA18957.hp2 NA18972.hp1 NA18974.hp2 NA18980.hp2 NA18984.hp1 NA18986.hp2 NA18992.hp1 NA18995.hp2 NA18998.hp1 NA19003.hp2 NA19004.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19064.hp2 NA19074.hp1 NA19077.hp1 NA19081.hp2 NA19083.hp1 NA19085.hp2 NA19091.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp1 NA20905.hp2 NA21309.hp2	a0002 a0006 a0002 a0006	a0002c0002 a0002c0007 a0002c0008 others(2): Show a0002c0002 a0002c0007 a0002c0008 a0002c0009 a0006c0015	a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 others(6): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0004 a0002c0002t0006 a0002c0002t0007 a0002c0007t0002 a0002c0008t0003 a0002c0009t0002 a0006c0015t0002	a0002c0002t0002g0003 a0002c0002t0002g0016 a0002c0002t0002g0018 others(29): Show a0002c0002t0002g0003 a0002c0002t0002g0016 a0002c0002t0002g0018 a0002c0002t0002g0019 a0002c0002t0002g0020 a0002c0002t0002g0024 a0002c0002t0002g0026 a0002c0002t0002g0027 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0039 a0002c0002t0002g0042 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0003g0005 a0002c0002t0003g0012 a0002c0002t0003g0025 a0002c0002t0003g0033 a0002c0002t0003g0034 a0002c0002t0003g0046 a0002c0002t0003g0050 a0002c0002t0004g0009 a0002c0002t0004g0054 a0002c0002t0006g0041 a0002c0002t0007g0040 a0002c0007t0002g0023 a0002c0008t0003g0029 a0002c0009t0002g0030 a0006c0015t0002g0053	138	434	0.3180	c.143 others(4): Show c.1439T>C	p.Leu others(6): Show p.Leu480Ser	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding	8/10	1521/3173	1439/2220	480/739	chr1	TogoVar
AP4B1_chr1_113889194_113909799	113898727	T T	C C	missense_variant missense_variant	MODERATE	HG02109.hp2 HG02280.hp2 HG02976.hp1 others(1): Show HG02109.hp2 HG02280.hp2 HG02976.hp1 HG03225.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0017 a0003c0005t0002g0017	4	434	0.0092	c.118 others(4): Show c.1189A>G	p.Ile others(6): Show p.Ile397Val	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding	6/10	1271/3173	1189/2220	397/739	chr1	TogoVar
AP4B1_chr1_113889194_113909799	113900050	G G	A A	missense_variant missense_variant	MODERATE	NA19068.hp2 NA19068.hp2	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0001 a0007c0014t0001	a0007c0014t0001g0077 a0007c0014t0001g0077	1	434	0.0023	c.968 others(3): Show c.968C>T	p.Ser others(6): Show p.Ser323Leu	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding	5/10	1050/3173	968/2220	323/739	chr1	TogoVar
AP4B1_chr1_113889194_113909799	113900120	C C	A A	missense_variant missense_variant	MODERATE	HG03471.hp1 HG03471.hp1	a0006 a0006	a0006c0015 a0006c0015	a0006c0015t0002 a0006c0015t0002	a0006c0015t0002g0053 a0006c0015t0002g0053	1	434	0.0023	c.898 others(3): Show c.898G>T	p.Val others(6): Show p.Val300Leu	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding	5/10	980/3173	898/2220	300/739	chr1	TogoVar
AP4B1_chr1_113889194_113909799	113900138	A A	G G	missense_variant missense_variant	MODERATE	HG02040.hp2 HG02040.hp2	a0011 a0011	a0011c0010 a0011c0010	a0011c0010t0001 a0011c0010t0001	a0011c0010t0001g0068 a0011c0010t0001g0068	1	434	0.0023	c.880 others(3): Show c.880T>C	p.Phe others(6): Show p.Phe294Leu	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding	5/10	962/3173	880/2220	294/739	chr1	TogoVar
AP4B1_chr1_113889194_113909799	113900251	G G	A A	missense_variant missense_variant	MODERATE	NA20805.hp2 NA20805.hp2	a0005 a0005	a0005c0016 a0005c0016	a0005c0016t0001 a0005c0016t0001	a0005c0016t0001g0078 a0005c0016t0001g0078	1	434	0.0023	c.767 others(3): Show c.767C>T	p.Thr others(6): Show p.Thr256Ile	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding	5/10	849/3173	767/2220	256/739	chr1	TogoVar
AP4B1_chr1_113889194_113909799	113902825	T T	G G	missense_variant missense_variant	MODERATE	HG02074.hp2 HG02129.hp1 HG02155.hp1 HG02074.hp2 HG02129.hp1 HG02155.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0021 a0004c0006t0001g0021	3	434	0.0069	c.151 others(3): Show c.151A>C	p.Met others(5): Show p.Met51Leu	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding	2/10	233/3173	151/2220	51/739	chr1	TogoVar
AP4E1_chr15_50903683_51010895	50925164	T T	C C	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00140.hp1 HG00323.hp2 others(190): Show HG00099.hp2 HG00140.hp1 HG00323.hp2 HG00408.hp2 HG00423.hp1 HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00558.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01099.hp1 HG01109.hp2 HG01123.hp1 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp1 HG01255.hp2 HG01256.hp2 HG01261.hp1 HG01358.hp2 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01891.hp1 HG01891.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02040.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp1 HG02129.hp1 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02486.hp1 HG02486.hp2 HG02615.hp1 HG02615.hp2 HG02698.hp2 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG03927.hp1 HG03942.hp1 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG06807.hp1 HG06807.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18953.hp1 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18961.hp2 NA18962.hp2 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18967.hp2 NA18969.hp2 NA18971.hp2 NA18975.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18980.hp2 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18982.hp2 NA18983.hp1 NA18984.hp1 NA18984.hp2 NA18986.hp1 NA18987.hp1 NA18990.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp2 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19004.hp1 NA19004.hp2 NA19006.hp1 NA19007.hp1 NA19012.hp2 NA19054.hp2 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19060.hp1 NA19064.hp1 NA19065.hp2 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19070.hp1 NA19072.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA19090.hp2 NA19091.hp2 NA20129.hp1 NA20129.hp2 NA20752.hp2 NA21309.hp1	a0002 a0003 a0005 others(2): Show a0002 a0003 a0005 a0010 a0011	a0002c0002 a0002c0003 a0002c0006 others(4): Show a0002c0002 a0002c0003 a0002c0006 a0003c0004 a0005c0007 a0010c0008 a0011c0009	a0002c0002t0002 a0002c0002t0012 a0002c0002t0016 others(19): Show a0002c0002t0002 a0002c0002t0012 a0002c0002t0016 a0002c0002t0017 a0002c0002t0021 a0002c0002t0023 a0002c0002t0024 a0002c0003t0001 a0002c0003t0002 a0002c0003t0003 a0002c0003t0006 a0002c0003t0010 a0002c0003t0013 a0002c0003t0014 a0002c0003t0020 a0002c0003t0022 a0002c0006t0015 a0003c0004t0007 a0003c0004t0018 a0005c0007t0011 a0010c0008t0002 a0011c0009t0003	a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 others(189): Show a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0012 a0002c0002t0002g0013 a0002c0002t0002g0014 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0035 a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0039 a0002c0002t0002g0040 a0002c0002t0002g0041 a0002c0002t0002g0043 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0002g0058 a0002c0002t0002g0059 a0002c0002t0002g0060 a0002c0002t0002g0061 a0002c0002t0002g0062 a0002c0002t0002g0063 a0002c0002t0002g0064 a0002c0002t0002g0065 a0002c0002t0002g0066 a0002c0002t0002g0067 a0002c0002t0002g0069 a0002c0002t0002g0070 a0002c0002t0002g0072 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0075 a0002c0002t0002g0076 a0002c0002t0002g0079 a0002c0002t0002g0080 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0084 a0002c0002t0002g0085 a0002c0002t0002g0086 a0002c0002t0002g0087 a0002c0002t0002g0088 a0002c0002t0002g0089 a0002c0002t0002g0090 a0002c0002t0002g0091 a0002c0002t0002g0092 a0002c0002t0002g0093 a0002c0002t0002g0094 a0002c0002t0002g0095 a0002c0002t0002g0096 a0002c0002t0002g0097 a0002c0002t0002g0098 a0002c0002t0002g0099 a0002c0002t0002g0100 a0002c0002t0002g0101 a0002c0002t0002g0102 a0002c0002t0002g0103 a0002c0002t0002g0104 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0107 a0002c0002t0002g0108 a0002c0002t0002g0109 a0002c0002t0002g0110 a0002c0002t0002g0113 a0002c0002t0002g0114 a0002c0002t0002g0115 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0002g0122 a0002c0002t0002g0124 a0002c0002t0002g0125 a0002c0002t0012g0111 a0002c0002t0012g0112 a0002c0002t0016g0068 a0002c0002t0016g0116 a0002c0002t0017g0054 a0002c0002t0017g0055 a0002c0002t0021g0006 a0002c0002t0023g0042 a0002c0002t0024g0047 a0002c0003t0001g0071 a0002c0003t0001g0077 a0002c0003t0001g0078 a0002c0003t0002g0123 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0028 a0002c0003t0003g0029 a0002c0003t0003g0030 a0002c0003t0003g0031 a0002c0003t0003g0126 a0002c0003t0003g0127 a0002c0003t0003g0128 a0002c0003t0003g0129 a0002c0003t0003g0130 a0002c0003t0003g0131 a0002c0003t0003g0132 a0002c0003t0003g0133 a0002c0003t0003g0134 a0002c0003t0003g0135 a0002c0003t0003g0136 a0002c0003t0003g0137 a0002c0003t0003g0138 a0002c0003t0003g0139 a0002c0003t0003g0140 a0002c0003t0003g0141 a0002c0003t0003g0142 a0002c0003t0003g0143 a0002c0003t0003g0144 a0002c0003t0003g0145 a0002c0003t0003g0146 a0002c0003t0003g0147 a0002c0003t0003g0148 a0002c0003t0003g0149 a0002c0003t0003g0150 a0002c0003t0003g0151 a0002c0003t0003g0152 a0002c0003t0003g0153 a0002c0003t0003g0154 a0002c0003t0003g0155 a0002c0003t0003g0156 a0002c0003t0003g0157 a0002c0003t0003g0158 a0002c0003t0003g0159 a0002c0003t0003g0160 a0002c0003t0003g0162 a0002c0003t0003g0163 a0002c0003t0003g0164 a0002c0003t0003g0165 a0002c0003t0003g0166 a0002c0003t0003g0167 a0002c0003t0003g0168 a0002c0003t0003g0169 a0002c0003t0003g0170 a0002c0003t0003g0171 a0002c0003t0003g0172 a0002c0003t0003g0173 a0002c0003t0003g0174 a0002c0003t0003g0175 a0002c0003t0003g0176 a0002c0003t0003g0177 a0002c0003t0003g0178 a0002c0003t0003g0179 a0002c0003t0003g0180 a0002c0003t0003g0181 a0002c0003t0003g0182 a0002c0003t0003g0183 a0002c0003t0003g0193 a0002c0003t0003g0194 a0002c0003t0006g0186 a0002c0003t0006g0187 a0002c0003t0006g0188 a0002c0003t0006g0189 a0002c0003t0006g0190 a0002c0003t0006g0191 a0002c0003t0006g0192 a0002c0003t0010g0032 a0002c0003t0010g0033 a0002c0003t0010g0034 a0002c0003t0013g0001 a0002c0003t0014g0017 a0002c0003t0014g0018 a0002c0003t0020g0008 a0002c0003t0022g0007 a0002c0006t0015g0347 a0002c0006t0015g0348 a0003c0004t0007g0021 a0003c0004t0007g0022 a0003c0004t0007g0023 a0003c0004t0007g0024 a0003c0004t0018g0019 a0003c0004t0018g0020 a0005c0007t0011g0184 a0005c0007t0011g0185 a0010c0008t0002g0005 a0011c0009t0003g0161	193	392	0.4924	c.487 others(3): Show c.487T>C	p.Cys others(6): Show p.Cys163Arg	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	5/21	583/6743	487/3414	163/1137	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50930893	A A	G G	missense_variant missense_variant	MODERATE	NA19058.hp1 NA19058.hp1	a0011 a0011	a0011c0009 a0011c0009	a0011c0009t0003 a0011c0009t0003	a0011c0009t0003g0161 a0011c0009t0003g0161	1	392	0.0026	c.791 others(3): Show c.791A>G	p.Asn others(6): Show p.Asn264Ser	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	7/21	887/6743	791/3414	264/1137	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50941684	A A	G G	missense_variant missense_variant	MODERATE	HG02809.hp2 HG02809.hp2	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0002 a0010c0008t0002	a0010c0008t0002g0005 a0010c0008t0002g0005	1	392	0.0026	c.108 others(4): Show c.1085A>G	p.Tyr others(6): Show p.Tyr362Cys	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	10/21	1181/6743	1085/3414	362/1137	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50948126	A A	G G	missense_variant missense_variant	MODERATE	HG01891.hp1 HG03041.hp1 HG01891.hp1 HG03041.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0011 a0005c0007t0011	a0005c0007t0011g0184 a0005c0007t0011g0185 a0005c0007t0011g0184 a0005c0007t0011g0185	2	392	0.0051	c.128 others(4): Show c.1283A>G	p.Asn others(6): Show p.Asn428Ser	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	11/21	1379/6743	1283/3414	428/1137	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50958529	C C	T T	missense_variant missense_variant	MODERATE	HG02809.hp2 HG02809.hp2	a0010 a0010	a0010c0008 a0010c0008	a0010c0008t0002 a0010c0008t0002	a0010c0008t0002g0005 a0010c0008t0002g0005	1	392	0.0026	c.158 others(4): Show c.1586C>T	p.Thr others(6): Show p.Thr529Met	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/21	1682/6743	1586/3414	529/1137	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50958637	C C	T T	missense_variant missense_variant	MODERATE	NA18993.hp1 NA18993.hp1	a0009 a0009	a0009c0014 a0009c0014	a0009c0014t0001 a0009c0014t0001	a0009c0014t0001g0231 a0009c0014t0001g0231	1	392	0.0026	c.169 others(4): Show c.1694C>T	p.Ala others(6): Show p.Ala565Val	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/21	1790/6743	1694/3414	565/1137	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50968362	C C	G G	missense_variant missense_variant	MODERATE	HG01255.hp1 HG01255.hp1	a0008 a0008	a0008c0013 a0008c0013	a0008c0013t0005 a0008c0013t0005	a0008c0013t0005g0329 a0008c0013t0005g0329	1	392	0.0026	c.195 others(4): Show c.1951C>G	p.Leu others(6): Show p.Leu651Val	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	15/21	2047/6743	1951/3414	651/1137	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50997359	A A	G G	missense_variant missense_variant	MODERATE	NA18974.hp2 NA18974.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0289 a0006c0012t0001g0289	1	392	0.0026	c.238 others(4): Show c.2380A>G	p.Arg others(6): Show p.Arg794Gly	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	18/21	2476/6743	2380/3414	794/1137	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50997408	C C	T T	missense_variant missense_variant	MODERATE	HG02145.hp2 HG02615.hp2 HG02922.hp2 others(3): Show HG02145.hp2 HG02615.hp2 HG02922.hp2 HG03195.hp1 NA18906.hp2 NA20129.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0007 a0003c0004t0018 a0003c0004t0007 a0003c0004t0018	a0003c0004t0007g0021 a0003c0004t0007g0022 a0003c0004t0007g0023 others(3): Show a0003c0004t0007g0021 a0003c0004t0007g0022 a0003c0004t0007g0023 a0003c0004t0007g0024 a0003c0004t0018g0019 a0003c0004t0018g0020	6	392	0.0153	c.242 others(4): Show c.2429C>T	p.Thr others(6): Show p.Thr810Ile	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	18/21	2525/6743	2429/3414	810/1137	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50997597	C C	G G	missense_variant missense_variant	MODERATE	HG02647.hp2 HG02647.hp2	a0007 a0007	a0007c0011 a0007c0011	a0007c0011t0005 a0007c0011t0005	a0007c0011t0005g0339 a0007c0011t0005g0339	1	392	0.0026	c.261 others(4): Show c.2618C>G	p.Ser others(6): Show p.Ser873Cys	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	18/21	2714/6743	2618/3414	873/1137	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50997734	A A	G G	missense_variant missense_variant	MODERATE	HG01891.hp1 HG03041.hp1 HG01891.hp1 HG03041.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0011 a0005c0007t0011	a0005c0007t0011g0184 a0005c0007t0011g0185 a0005c0007t0011g0184 a0005c0007t0011g0185	2	392	0.0051	c.275 others(4): Show c.2755A>G	p.Met others(6): Show p.Met919Val	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	18/21	2851/6743	2755/3414	919/1137	chr15	TogoVar
AP4E1_chr15_50903683_51010895	51001147	C C	A A	missense_variant missense_variant	MODERATE	NA18944.hp2 NA18962.hp1 NA18975.hp2 NA18944.hp2 NA18962.hp1 NA18975.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0235 a0004c0005t0001g0238 a0004c0005t0001g0239 a0004c0005t0001g0235 a0004c0005t0001g0238 a0004c0005t0001g0239	3	392	0.0077	c.321 others(4): Show c.3217C>A	p.Gln others(7): Show p.Gln1073Lys	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	20/21	3313/6743	3217/3414	1073/1137	chr15	TogoVar
AP4M1_chr7_100096643_100114039	100105324	G G	A A	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00735.hp1 HG00741.hp1 others(8): Show HG00323.hp1 HG00735.hp1 HG00741.hp1 HG01074.hp2 HG01099.hp1 HG01168.hp2 HG01169.hp1 HG01192.hp1 HG01516.hp1 NA20752.hp2 NA20805.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0004 a0002c0002t0002g0036 a0002c0002t0002g0075 a0002c0002t0002g0004 a0002c0002t0002g0036 a0002c0002t0002g0075	11	416	0.0264	c.812 others(3): Show c.812G>A	p.Arg others(6): Show p.Arg271His	AP4M1	ENSG00000221838.11	transcript	ENST00000359593.9	protein_coding	10/15	884/3591	812/1362	271/453	chr7	TogoVar
AP5B1_chr11_65768898_65785976	65777879	G G	A A	missense_variant missense_variant	MODERATE	HG02451.hp1 HG02451.hp1	a0011 a0011	a0011c0018 a0011c0018	a0011c0018t0008 a0011c0018t0008	a0011c0018t0008g0049 a0011c0018t0008g0049	1	424	0.0024	c.261 others(4): Show c.2614C>T	p.Arg others(6): Show p.Arg872Cys	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	2999/6980	2614/2637	872/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65777923	C C	T T	missense_variant missense_variant	MODERATE	NA19043.hp1 NA19043.hp1	a0009 a0009	a0009c0023 a0009c0023	a0009c0023t0003 a0009c0023t0003	a0009c0023t0003g0055 a0009c0023t0003g0055	1	424	0.0024	c.257 others(4): Show c.2570G>A	p.Arg others(6): Show p.Arg857Gln	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	2955/6980	2570/2637	857/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65778442	G G	A A	missense_variant missense_variant	MODERATE	HG01891.hp2 HG02055.hp2 HG02280.hp2 others(8): Show HG01891.hp2 HG02055.hp2 HG02280.hp2 HG02647.hp1 HG02717.hp2 HG02896.hp1 HG02976.hp2 HG03195.hp2 HG03209.hp1 HG03471.hp1 NA19240.hp1	a0004 a0010 a0004 a0010	a0004c0005 a0010c0016 a0004c0005 a0010c0016	a0004c0005t0006 a0004c0005t0024 a0004c0005t0044 others(1): Show a0004c0005t0006 a0004c0005t0024 a0004c0005t0044 a0010c0016t0024	a0004c0005t0006g0008 a0004c0005t0024g0051 a0004c0005t0044g0050 others(1): Show a0004c0005t0006g0008 a0004c0005t0024g0051 a0004c0005t0044g0050 a0010c0016t0024g0040	11	424	0.0259	c.205 others(4): Show c.2051C>T	p.Pro others(6): Show p.Pro684Leu	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	2436/6980	2051/2637	684/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65778905	T T	C C	missense_variant missense_variant	MODERATE	HG02717.hp1 HG02717.hp1	a0008 a0008	a0008c0024 a0008c0024	a0008c0024t0007 a0008c0024t0007	a0008c0024t0007g0060 a0008c0024t0007g0060	1	424	0.0024	c.158 others(4): Show c.1588A>G	p.Arg others(6): Show p.Arg530Gly	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	1973/6980	1588/2637	530/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65779184	G G	A A	missense_variant missense_variant	MODERATE	HG00408.hp1 NA19005.hp2 HG00408.hp1 NA19005.hp2	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0002 a0005c0011t0002	a0005c0011t0002g0027 a0005c0011t0002g0027	2	424	0.0047	c.130 others(4): Show c.1309C>T	p.Pro others(6): Show p.Pro437Ser	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	1694/6980	1309/2637	437/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65779447	C C	T T	missense_variant missense_variant	MODERATE	HG02280.hp2 HG02280.hp2	a0010 a0010	a0010c0016 a0010c0016	a0010c0016t0024 a0010c0016t0024	a0010c0016t0024g0040 a0010c0016t0024g0040	1	424	0.0024	c.104 others(4): Show c.1046G>A	p.Arg others(6): Show p.Arg349His	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	1431/6980	1046/2637	349/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65779862	G G	A A	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00408.hp1 others(148): Show HG00099.hp1 HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG00673.hp1 HG00733.hp2 HG00735.hp1 HG00738.hp1 HG00741.hp2 HG01109.hp1 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01168.hp1 HG01192.hp1 HG01243.hp1 HG01255.hp1 HG01257.hp2 HG01358.hp1 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01934.hp1 HG01934.hp2 HG01978.hp1 HG02004.hp2 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02145.hp1 HG02155.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02293.hp1 HG02300.hp2 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02683.hp2 HG02717.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG03669.hp1 HG03688.hp1 HG03688.hp2 HG04204.hp1 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18944.hp1 NA18946.hp1 NA18949.hp1 NA18952.hp1 NA18954.hp1 NA18959.hp1 NA18960.hp1 NA18961.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp2 NA18968.hp2 NA18969.hp2 NA18971.hp1 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18985.hp1 NA18987.hp1 NA18987.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA18999.hp2 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp1 NA19011.hp2 NA19043.hp1 NA19043.hp2 NA19055.hp2 NA19056.hp1 NA19065.hp2 NA19066.hp1 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19075.hp2 NA19076.hp1 NA19078.hp1 NA19078.hp2 NA19081.hp2 NA19082.hp1 NA19082.hp2 NA19083.hp1 NA19083.hp2 NA19084.hp1 NA19087.hp1 NA19090.hp1 NA20300.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0002 a0003 a0005 others(4): Show a0002 a0003 a0005 a0007 a0008 a0009 a0015	a0002c0003 a0002c0007 a0002c0025 others(9): Show a0002c0003 a0002c0007 a0002c0025 a0002c0026 a0003c0002 a0003c0010 a0003c0022 a0005c0011 a0007c0027 a0008c0024 a0009c0023 a0015c0012	a0002c0003t0002 a0002c0003t0039 a0002c0007t0002 others(19): Show a0002c0003t0002 a0002c0003t0039 a0002c0007t0002 a0002c0025t0002 a0002c0026t0002 a0003c0002t0003 a0003c0002t0007 a0003c0002t0011 a0003c0002t0019 a0003c0002t0022 a0003c0002t0026 a0003c0002t0030 a0003c0002t0031 a0003c0002t0038 a0003c0002t0042 a0003c0010t0017 a0003c0022t0003 a0005c0011t0002 a0007c0027t0002 a0008c0024t0007 a0009c0023t0003 a0015c0012t0002	a0002c0003t0002g0002 a0002c0003t0039g0062 a0002c0007t0002g0006 others(19): Show a0002c0003t0002g0002 a0002c0003t0039g0062 a0002c0007t0002g0006 a0002c0025t0002g0061 a0002c0026t0002g0063 a0003c0002t0003g0003 a0003c0002t0007g0012 a0003c0002t0011g0013 a0003c0002t0019g0021 a0003c0002t0022g0026 a0003c0002t0026g0029 a0003c0002t0030g0056 a0003c0002t0031g0057 a0003c0002t0038g0058 a0003c0002t0042g0059 a0003c0010t0017g0019 a0003c0022t0003g0054 a0005c0011t0002g0027 a0007c0027t0002g0064 a0008c0024t0007g0060 a0009c0023t0003g0055 a0015c0012t0002g0036	151	424	0.3561	c.631 others(3): Show c.631C>T	p.Leu others(6): Show p.Leu211Phe	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	1016/6980	631/2637	211/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65779984	C C	A A	missense_variant missense_variant	MODERATE	HG00099.hp2 HG00408.hp1 HG00423.hp1 others(76): Show HG00099.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00609.hp1 HG00673.hp1 HG01109.hp1 HG01167.hp1 HG01168.hp1 HG01243.hp1 HG01257.hp2 HG01884.hp1 HG01934.hp2 HG02056.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp2 HG02135.hp2 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02572.hp2 HG02647.hp2 HG02683.hp2 HG02818.hp2 HG02965.hp1 HG02965.hp2 HG03041.hp2 HG03139.hp1 HG03225.hp1 HG03491.hp1 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03688.hp1 HG03688.hp2 HG04204.hp1 HG06807.hp1 NA18747.hp2 NA18942.hp2 NA18944.hp1 NA18949.hp1 NA18961.hp1 NA18968.hp2 NA18969.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp2 NA18985.hp1 NA18987.hp2 NA18992.hp2 NA18994.hp2 NA18995.hp1 NA18998.hp1 NA18999.hp1 NA19003.hp1 NA19005.hp1 NA19005.hp2 NA19009.hp1 NA19011.hp2 NA19056.hp1 NA19065.hp2 NA19067.hp2 NA19075.hp2 NA19076.hp1 NA19078.hp2 NA19081.hp2 NA19082.hp2 NA19083.hp2 NA19084.hp1 NA19090.hp1 NA20300.hp1	a0002 a0005 a0007 others(1): Show a0002 a0005 a0007 a0015	a0002c0003 a0002c0007 a0002c0025 others(4): Show a0002c0003 a0002c0007 a0002c0025 a0002c0026 a0005c0011 a0007c0027 a0015c0012	a0002c0003t0002 a0002c0003t0039 a0002c0007t0002 others(5): Show a0002c0003t0002 a0002c0003t0039 a0002c0007t0002 a0002c0025t0002 a0002c0026t0002 a0005c0011t0002 a0007c0027t0002 a0015c0012t0002	a0002c0003t0002g0002 a0002c0003t0039g0062 a0002c0007t0002g0006 others(5): Show a0002c0003t0002g0002 a0002c0003t0039g0062 a0002c0007t0002g0006 a0002c0025t0002g0061 a0002c0026t0002g0063 a0005c0011t0002g0027 a0007c0027t0002g0064 a0015c0012t0002g0036	79	424	0.1863	c.509 others(3): Show c.509G>T	p.Gly others(6): Show p.Gly170Val	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	894/6980	509/2637	170/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780050	G G	C C	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.443 others(3): Show c.443C>G	p.Ala others(6): Show p.Ala148Gly	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	828/6980	443/2637	148/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780053	T T	G G	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.440 others(3): Show c.440A>C	p.Gln others(6): Show p.Gln147Pro	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	825/6980	440/2637	147/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780062	C C	G G	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.431 others(3): Show c.431G>C	p.Arg others(6): Show p.Arg144Pro	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	816/6980	431/2637	144/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780083	A A	G G	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.410 others(3): Show c.410T>C	p.Phe others(6): Show p.Phe137Ser	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	795/6980	410/2637	137/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780086	C C	G G	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.407 others(3): Show c.407G>C	p.Gly others(6): Show p.Gly136Ala	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	792/6980	407/2637	136/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780089	C C	G G	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.404 others(3): Show c.404G>C	p.Arg others(6): Show p.Arg135Pro	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	789/6980	404/2637	135/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780092	C C	G G	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.401 others(3): Show c.401G>C	p.Gly others(6): Show p.Gly134Ala	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	786/6980	401/2637	134/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780093	C C	G G	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.400 others(3): Show c.400G>C	p.Gly others(6): Show p.Gly134Arg	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	785/6980	400/2637	134/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780099	C C	G G	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.394 others(3): Show c.394G>C	p.Asp others(6): Show p.Asp132His	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	779/6980	394/2637	132/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780101	C C	G G	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.392 others(3): Show c.392G>C	p.Ser others(6): Show p.Ser131Thr	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	777/6980	392/2637	131/878	chr11	TogoVar
AP5B1_chr11_65768898_65785976	65780108	C C	G G	missense_variant missense_variant	MODERATE	NA18955.hp1 NA18955.hp1	a0013 a0013	a0013c0015 a0013c0015	a0013c0015t0027 a0013c0015t0027	a0013c0015t0027g0030 a0013c0015t0027g0030	1	424	0.0024	c.385 others(3): Show c.385G>C	p.Ala others(6): Show p.Ala129Pro	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding	2/2	770/6980	385/2637	129/878	chr11	TogoVar

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