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
AOX1_chr2_200581014_200676495	200669666	A A	G G	missense_variant missense_variant	MODERATE	HG00621.hp1 HG00673.hp2 HG01106.hp1 others(38): Show HG00621.hp1 HG00673.hp2 HG01106.hp1 HG01123.hp2 HG01192.hp2 HG01255.hp2 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01515.hp2 HG01517.hp2 HG01934.hp2 HG01943.hp2 HG02040.hp1 HG02071.hp1 HG02148.hp2 HG02273.hp2 HG02300.hp1 HG02523.hp2 HG02698.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp1 HG03486.hp2 HG03491.hp1 HG03492.hp2 HG03669.hp2 NA18944.hp1 NA18948.hp1 NA18956.hp1 NA18963.hp1 NA18968.hp1 NA18974.hp1 NA18978.hp2 NA18980.hp1 NA18987.hp1 NA19007.hp2 NA19055.hp2 NA19060.hp1 NA19082.hp2 homoSapiens_chm13v2.hp1	a0002 a0006 a0010 a0002 a0006 a0010	a0002c0002 a0006c0010 a0010c0025 a0002c0002 a0006c0010 a0010c0025	a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 others(3): Show a0002c0002t0002 a0002c0002t0003 a0002c0002t0007 a0006c0010t0007 a0006c0010t0009 a0010c0025t0003	a0002c0002t0002g0038 a0002c0002t0002g0098 a0002c0002t0002g0118 others(38): Show a0002c0002t0002g0038 a0002c0002t0002g0098 a0002c0002t0002g0118 a0002c0002t0002g0138 a0002c0002t0002g0185 a0002c0002t0002g0204 a0002c0002t0002g0348 a0002c0002t0003g0006 a0002c0002t0003g0025 a0002c0002t0003g0039 a0002c0002t0003g0040 a0002c0002t0003g0043 a0002c0002t0003g0044 a0002c0002t0003g0045 a0002c0002t0003g0046 a0002c0002t0003g0047 a0002c0002t0003g0048 a0002c0002t0003g0049 a0002c0002t0003g0059 a0002c0002t0003g0064 a0002c0002t0003g0065 a0002c0002t0003g0066 a0002c0002t0003g0067 a0002c0002t0003g0068 a0002c0002t0003g0070 a0002c0002t0003g0071 a0002c0002t0003g0081 a0002c0002t0003g0111 a0002c0002t0003g0135 a0002c0002t0003g0151 a0002c0002t0003g0152 a0002c0002t0003g0158 a0002c0002t0003g0201 a0002c0002t0003g0219 a0002c0002t0003g0265 a0002c0002t0003g0274 a0002c0002t0003g0367 a0002c0002t0007g0252 a0006c0010t0007g0280 a0006c0010t0009g0106 a0010c0025t0003g0287	41	370	0.1108	c.389 others(4): Show c.3890A>G	p.His others(7): Show p.His1297Arg	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	34/35	3985/4928	3890/4017	1297/1338	chr2	TogoVar
AP1AR_chr4_112226787_112278110	112232100	C C	A A	missense_variant missense_variant	MODERATE	NA18612.hp1 NA18612.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0019 a0002c0003t0001g0019	1	398	0.0025	c.9C> others(1): Show c.9C>A	p.Asn others(4): Show p.Asn3Lys	AP1AR	ENSG00000138660.12	transcript	ENST00000274000.10	protein_coding	1/10	314/5915	9/909	3/302	chr4	TogoVar
AP1AR_chr4_112226787_112278110	112232119	T T	C C	missense_variant missense_variant	MODERATE	HG02602.hp2 HG02602.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0002 a0004c0004t0002	a0004c0004t0002g0130 a0004c0004t0002g0130	1	398	0.0025	c.28T others(2): Show c.28T>C	p.Phe others(5): Show p.Phe10Leu	AP1AR	ENSG00000138660.12	transcript	ENST00000274000.10	protein_coding	1/10	333/5915	28/909	10/302	chr4	TogoVar
AP1AR_chr4_112226787_112278110	112268390	C C	T T	missense_variant missense_variant	MODERATE	HG02258.hp1 HG02258.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0068 a0003c0007t0001g0068	1	398	0.0025	c.890 others(3): Show c.890C>T	p.Thr others(6): Show p.Thr297Ile	AP1AR	ENSG00000138660.12	transcript	ENST00000274000.10	protein_coding	10/10	1195/5915	890/909	297/302	chr4	TogoVar
AP1B1_chr22_29322680_29393570	29330635	G G	A A	missense_variant missense_variant	MODERATE	HG02165.hp1 HG02165.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0169 a0005c0015t0001g0169	1	378	0.0027	c.259 others(4): Show c.2599C>T	p.Pro others(6): Show p.Pro867Ser	AP1B1	ENSG00000100280.17	transcript	ENST00000357586.7	protein_coding	20/23	2773/4165	2599/2850	867/949	chr22	TogoVar
AP1B1_chr22_29322680_29393570	29330691	G G	A A	missense_variant missense_variant	MODERATE	HG02647.hp1 HG02647.hp1	a0006 a0006	a0006c0016 a0006c0016	a0006c0016t0001 a0006c0016t0001	a0006c0016t0001g0072 a0006c0016t0001g0072	1	378	0.0027	c.254 others(4): Show c.2543C>T	p.Ala others(6): Show p.Ala848Val	AP1B1	ENSG00000100280.17	transcript	ENST00000357586.7	protein_coding	20/23	2717/4165	2543/2850	848/949	chr22	TogoVar
AP1B1_chr22_29322680_29393570	29331879	C C	T T	missense_variant missense_variant	MODERATE	HG02015.hp1 HG02015.hp1	a0007 a0007	a0007c0013 a0007c0013	a0007c0013t0001 a0007c0013t0001	a0007c0013t0001g0128 a0007c0013t0001g0128	1	378	0.0027	c.234 others(4): Show c.2347G>A	p.Ala others(6): Show p.Ala783Thr	AP1B1	ENSG00000100280.17	transcript	ENST00000357586.7	protein_coding	18/23	2521/4165	2347/2850	783/949	chr22	TogoVar
AP1B1_chr22_29322680_29393570	29339076	C C	T T	missense_variant missense_variant	MODERATE	HG02886.hp1 HG02886.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0001 a0008c0012t0001	a0008c0012t0001g0014 a0008c0012t0001g0014	1	378	0.0027	c.207 others(4): Show c.2077G>A	p.Ala others(6): Show p.Ala693Thr	AP1B1	ENSG00000100280.17	transcript	ENST00000357586.7	protein_coding	16/23	2251/4165	2077/2850	693/949	chr22	TogoVar
AP1B1_chr22_29322680_29393570	29339132	A A	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG02080.hp2 HG02080.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0167 a0009c0011t0001g0167	1	378	0.0027	c.202 others(4): Show c.2021T>A	p.Ile others(6): Show p.Ile674Asn	AP1B1	ENSG00000100280.17	transcript	ENST00000357586.7	protein_coding	16/23	2195/4165	2021/2850	674/949	chr22	TogoVar
AP1B1_chr22_29322680_29393570	29340775	C C	T T	missense_variant missense_variant	MODERATE	HG03490.hp1 HG03492.hp2 HG03490.hp1 HG03492.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0001 a0002c0007t0001	a0002c0007t0001g0008 a0002c0007t0001g0008	2	378	0.0053	c.187 others(4): Show c.1879G>A	p.Asp others(6): Show p.Asp627Asn	AP1B1	ENSG00000100280.17	transcript	ENST00000357586.7	protein_coding	14/23	2053/4165	1879/2850	627/949	chr22	TogoVar
AP1B1_chr22_29322680_29393570	29349319	C C	T T	missense_variant missense_variant	MODERATE	HG03491.hp2 HG03492.hp1 HG03491.hp2 HG03492.hp1	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0005 a0003c0006t0005	a0003c0006t0005g0304 a0003c0006t0005g0305 a0003c0006t0005g0304 a0003c0006t0005g0305	2	378	0.0053	c.133 others(4): Show c.1336G>A	p.Ala others(6): Show p.Ala446Thr	AP1B1	ENSG00000100280.17	transcript	ENST00000357586.7	protein_coding	11/23	1510/4165	1336/2850	446/949	chr22	TogoVar
AP1B1_chr22_29322680_29393570	29358732	G G	T T	missense_variant missense_variant	MODERATE	NA18950.hp1 NA18950.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0291 a0004c0008t0001g0291	1	378	0.0027	c.519 others(3): Show c.519C>A	p.Asn others(6): Show p.Asn173Lys	AP1B1	ENSG00000100280.17	transcript	ENST00000357586.7	protein_coding	5/23	693/4165	519/2850	173/949	chr22	TogoVar
AP1G1_chr16_71724000_71813834	71739018	G G	A A	missense_variant missense_variant	MODERATE	HG02074.hp2 HG02074.hp2	a0005 a0005	a0005c0006 a0005c0006	a0005c0006t0001 a0005c0006t0001	a0005c0006t0001g0132 a0005c0006t0001g0132	1	320	0.0031	c.219 others(4): Show c.2192C>T	p.Thr others(6): Show p.Thr731Ile	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	21/23	2267/6602	2192/2469	731/822	chr16	TogoVar
AP1G1_chr16_71724000_71813834	71739287	G G	T T	missense_variant missense_variant	MODERATE	HG00323.hp1 HG00323.hp2 HG00423.hp2 others(83): Show HG00323.hp1 HG00323.hp2 HG00423.hp2 HG00642.hp2 HG00738.hp1 HG00741.hp1 HG00741.hp2 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01123.hp1 HG01168.hp2 HG01255.hp1 HG01257.hp1 HG01258.hp1 HG01346.hp2 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp1 HG02148.hp1 HG02165.hp2 HG02293.hp1 HG02300.hp1 HG02451.hp1 HG02523.hp2 HG02602.hp1 HG02683.hp1 HG02698.hp2 HG02717.hp1 HG02735.hp1 HG02738.hp1 HG02922.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03710.hp1 HG03710.hp2 HG03831.hp2 HG03834.hp2 HG03942.hp1 HG03942.hp2 HG04204.hp2 NA18941.hp1 NA18941.hp2 NA18946.hp1 NA18950.hp2 NA18951.hp2 NA18957.hp2 NA18959.hp2 NA18962.hp2 NA18965.hp2 NA18966.hp1 NA18970.hp2 NA18977.hp1 NA18978.hp2 NA18979.hp2 NA18984.hp1 NA18985.hp2 NA18990.hp1 NA19002.hp2 NA19003.hp2 NA19004.hp1 NA19010.hp1 NA19011.hp2 NA19056.hp1 NA19057.hp2 NA19058.hp1 NA19065.hp1 NA19074.hp1 NA19076.hp2 NA19083.hp1 NA19086.hp2 NA19088.hp2 NA19091.hp2 NA20752.hp1 NA21309.hp1	a0002 a0003 a0004 others(1): Show a0002 a0003 a0004 a0005	a0002c0002 a0003c0005 a0004c0007 others(1): Show a0002c0002 a0003c0005 a0004c0007 a0005c0006	a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 others(12): Show a0002c0002t0001 a0002c0002t0004 a0002c0002t0005 a0002c0002t0006 a0002c0002t0017 a0002c0002t0021 a0002c0002t0022 a0002c0002t0031 a0002c0002t0032 a0002c0002t0033 a0002c0002t0034 a0002c0002t0039 a0003c0005t0001 a0004c0007t0001 a0005c0006t0001	a0002c0002t0001g0048 a0002c0002t0001g0089 a0002c0002t0001g0092 others(83): Show a0002c0002t0001g0048 a0002c0002t0001g0089 a0002c0002t0001g0092 a0002c0002t0001g0095 a0002c0002t0001g0096 a0002c0002t0001g0107 a0002c0002t0001g0108 a0002c0002t0001g0109 a0002c0002t0001g0110 a0002c0002t0001g0111 a0002c0002t0001g0123 a0002c0002t0001g0124 a0002c0002t0001g0125 a0002c0002t0001g0126 a0002c0002t0001g0128 a0002c0002t0001g0130 a0002c0002t0001g0131 a0002c0002t0001g0134 a0002c0002t0001g0135 a0002c0002t0001g0136 a0002c0002t0001g0137 a0002c0002t0001g0138 a0002c0002t0001g0139 a0002c0002t0001g0141 a0002c0002t0001g0143 a0002c0002t0001g0144 a0002c0002t0001g0145 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0148 a0002c0002t0001g0150 a0002c0002t0001g0151 a0002c0002t0001g0153 a0002c0002t0001g0154 a0002c0002t0001g0155 a0002c0002t0001g0156 a0002c0002t0001g0157 a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0161 a0002c0002t0001g0162 a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0167 a0002c0002t0001g0169 a0002c0002t0001g0170 a0002c0002t0001g0174 a0002c0002t0001g0175 a0002c0002t0001g0178 a0002c0002t0001g0180 a0002c0002t0001g0182 a0002c0002t0001g0243 a0002c0002t0001g0317 a0002c0002t0001g0319 a0002c0002t0004g0149 a0002c0002t0005g0142 a0002c0002t0006g0045 a0002c0002t0006g0046 a0002c0002t0006g0099 a0002c0002t0006g0100 a0002c0002t0006g0101 a0002c0002t0006g0102 a0002c0002t0006g0103 a0002c0002t0006g0104 a0002c0002t0006g0105 a0002c0002t0006g0106 a0002c0002t0006g0127 a0002c0002t0006g0168 a0002c0002t0006g0171 a0002c0002t0006g0172 a0002c0002t0006g0173 a0002c0002t0006g0177 a0002c0002t0006g0179 a0002c0002t0017g0047 a0002c0002t0017g0129 a0002c0002t0021g0097 a0002c0002t0022g0094 a0002c0002t0031g0160 a0002c0002t0032g0140 a0002c0002t0033g0152 a0002c0002t0034g0098 a0002c0002t0039g0318 a0003c0005t0001g0165 a0003c0005t0001g0166 a0004c0007t0001g0176 a0005c0006t0001g0132	86	320	0.2688	c.205 others(4): Show c.2054C>A	p.Pro others(6): Show p.Pro685His	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	20/23	2129/6602	2054/2469	685/822	chr16	TogoVar
AP1G1_chr16_71724000_71813834	71745206	G G	A A	missense_variant missense_variant	MODERATE	NA18946.hp1 NA18946.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0001 a0004c0007t0001	a0004c0007t0001g0176 a0004c0007t0001g0176	1	320	0.0031	c.193 others(4): Show c.1937C>T	p.Thr others(6): Show p.Thr646Ile	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	19/23	2012/6602	1937/2469	646/822	chr16	TogoVar
AP1G1_chr16_71724000_71813834	71745593	C C	A A	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0165 a0003c0005t0001g0166 a0003c0005t0001g0165 a0003c0005t0001g0166	2	320	0.0063	c.175 others(4): Show c.1752G>T	p.Met others(6): Show p.Met584Ile	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	18/23	1827/6602	1752/2469	584/822	chr16	TogoVar
AP1G1_chr16_71724000_71813834	71745604	G G	A A	missense_variant missense_variant	MODERATE	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0165 a0003c0005t0001g0166 a0003c0005t0001g0165 a0003c0005t0001g0166	2	320	0.0063	c.174 others(4): Show c.1741C>T	p.Leu others(6): Show p.Leu581Phe	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	18/23	1816/6602	1741/2469	581/822	chr16	TogoVar
AP1G2_chr14_23554567_23572791	23559828	C C	T T	missense_variant missense_variant	MODERATE	HG00558.hp2 HG00621.hp2 NA18944.hp1 others(8): Show HG00558.hp2 HG00621.hp2 NA18944.hp1 NA18946.hp2 NA18955.hp1 NA18967.hp1 NA18969.hp1 NA18982.hp1 NA18988.hp1 NA18998.hp2 NA19079.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0012 a0002c0003t0001g0019 a0002c0003t0001g0053 a0002c0003t0001g0012 a0002c0003t0001g0019 a0002c0003t0001g0053	11	396	0.0278	c.227 others(4): Show c.2279G>A	p.Arg others(6): Show p.Arg760His	AP1G2	ENSG00000213983.12	transcript	ENST00000397120.8	protein_coding	22/22	2337/2598	2279/2358	760/785	chr14	TogoVar
AP1G2_chr14_23554567_23572791	23559829	G G	A A	missense_variant missense_variant	MODERATE	HG02895.hp1 HG02896.hp2 HG02895.hp1 HG02896.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0034 a0004c0008t0001g0034	2	396	0.0051	c.227 others(4): Show c.2278C>T	p.Arg others(6): Show p.Arg760Cys	AP1G2	ENSG00000213983.12	transcript	ENST00000397120.8	protein_coding	22/22	2336/2598	2278/2358	760/785	chr14	TogoVar
AP1G2_chr14_23554567_23572791	23559946	G G	A A	missense_variant missense_variant	MODERATE	NA19057.hp2 NA19057.hp2	a0009 a0009	a0009c0011 a0009c0011	a0009c0011t0001 a0009c0011t0001	a0009c0011t0001g0056 a0009c0011t0001g0056	1	396	0.0025	c.224 others(4): Show c.2248C>T	p.Pro others(6): Show p.Pro750Ser	AP1G2	ENSG00000213983.12	transcript	ENST00000397120.8	protein_coding	21/22	2306/2598	2248/2358	750/785	chr14	TogoVar
AP1G2_chr14_23554567_23572791	23562059	G G	A A	missense_variant missense_variant	MODERATE	NA18995.hp1 NA18995.hp1	a0008 a0008	a0008c0012 a0008c0012	a0008c0012t0002 a0008c0012t0002	a0008c0012t0002g0057 a0008c0012t0002g0057	1	396	0.0025	c.163 others(4): Show c.1636C>T	p.Arg others(6): Show p.Arg546Cys	AP1G2	ENSG00000213983.12	transcript	ENST00000397120.8	protein_coding	17/22	1694/2598	1636/2358	546/785	chr14	TogoVar
AP1G2_chr14_23554567_23572791	23563417	C C	T T	missense_variant missense_variant	MODERATE	NA18970.hp2 NA18970.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0058 a0007c0010t0001g0058	1	396	0.0025	c.137 others(4): Show c.1373G>A	p.Arg others(6): Show p.Arg458His	AP1G2	ENSG00000213983.12	transcript	ENST00000397120.8	protein_coding	14/22	1431/2598	1373/2358	458/785	chr14	TogoVar
AP1G2_chr14_23554567_23572791	23563818	G G	A A	missense_variant missense_variant	MODERATE	HG01074.hp2 HG01192.hp2 HG01257.hp2 others(7): Show HG01074.hp2 HG01192.hp2 HG01257.hp2 HG01258.hp1 HG01515.hp1 HG01978.hp2 HG02559.hp2 HG03710.hp1 HG03710.hp2 NA20905.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0014 a0003c0004t0001g0024 a0003c0004t0001g0041 a0003c0004t0001g0014 a0003c0004t0001g0024 a0003c0004t0001g0041	10	396	0.0253	c.113 others(4): Show c.1130C>T	p.Ser others(6): Show p.Ser377Phe	AP1G2	ENSG00000213983.12	transcript	ENST00000397120.8	protein_coding	12/22	1188/2598	1130/2358	377/785	chr14	TogoVar
AP1G2_chr14_23554567_23572791	23566103	G G	A A	missense_variant missense_variant	MODERATE	HG03209.hp1 HG03209.hp1	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0001 a0006c0013t0001	a0006c0013t0001g0081 a0006c0013t0001g0081	1	396	0.0025	c.529 others(3): Show c.529C>T	p.Leu others(6): Show p.Leu177Phe	AP1G2	ENSG00000213983.12	transcript	ENST00000397120.8	protein_coding	5/22	587/2598	529/2358	177/785	chr14	TogoVar
AP1G2_chr14_23554567_23572791	23567269	G G	A A	missense_variant missense_variant	MODERATE	HG00544.hp2 HG00544.hp2	a0005 a0005	a0005c0014 a0005c0014	a0005c0014t0001 a0005c0014t0001	a0005c0014t0001g0084 a0005c0014t0001g0084	1	396	0.0025	c.46C others(2): Show c.46C>T	p.Arg others(5): Show p.Arg16Cys	AP1G2	ENSG00000213983.12	transcript	ENST00000397120.8	protein_coding	2/22	104/2598	46/2358	16/785	chr14	TogoVar
AP1S3_chr2_223750326_223842582	223765288	T T	C C	missense_variant missense_variant	MODERATE	HG02257.hp1 HG03209.hp2 HG03486.hp2 HG02257.hp1 HG03209.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0171 a0002c0002t0002g0291 a0002c0002t0002g0292 a0002c0002t0002g0171 a0002c0002t0002g0291 a0002c0002t0002g0292	3	340	0.0088	c.354 others(3): Show c.354A>G	p.Ile others(6): Show p.Ile118Met	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	4/5	486/3986	354/465	118/154	chr2	TogoVar
AP1S3_chr2_223750326_223842582	223775957	A A	C C	missense_variant missense_variant	MODERATE	NA20300.hp1 NA20300.hp1	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0046 a0005c0005t0046	a0005c0005t0046g0065 a0005c0005t0046g0065	1	340	0.0029	c.235 others(3): Show c.235T>G	p.Leu others(5): Show p.Leu79Val	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	3/5	367/3986	235/465	79/154	chr2	TogoVar
AP1S3_chr2_223750326_223842582	223777809	T T	C C	missense_variant missense_variant	MODERATE	HG01192.hp1 HG01192.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0023 a0004c0006t0023	a0004c0006t0023g0208 a0004c0006t0023g0208	1	340	0.0029	c.64A others(2): Show c.64A>G	p.Thr others(5): Show p.Thr22Ala	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	2/5	196/3986	64/465	22/154	chr2	TogoVar
AP1S3_chr2_223750326_223842582	223777862	A A	C C	missense_variant missense_variant	MODERATE	HG01106.hp2 HG01106.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0005 a0003c0004t0005	a0003c0004t0005g0277 a0003c0004t0005g0277	1	340	0.0029	c.11T others(2): Show c.11T>G	p.Phe others(4): Show p.Phe4Cys	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	2/5	143/3986	11/465	4/154	chr2	TogoVar
AP2A1_chr19_49762001_49812114	49803322	G G	A A	missense_variant missense_variant	MODERATE	NA19065.hp1 NA19065.hp1	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0295 a0002c0008t0001g0295	1	342	0.0029	c.229 others(4): Show c.2290G>A	p.Val others(6): Show p.Val764Met	AP2A1	ENSG00000196961.13	transcript	ENST00000354293.10	protein_coding	18/23	2423/3357	2290/2868	764/955	chr19	TogoVar
AP2A2_chr11_920870_1017240	985555	C C	T T	missense_variant missense_variant	MODERATE	NA19082.hp1 NA19082.hp1	a0005 a0005	a0005c0011 a0005c0011	a0005c0011t0002 a0005c0011t0002	a0005c0011t0002g0243 a0005c0011t0002g0243	1	268	0.0037	c.935 others(3): Show c.935C>T	p.Ala others(6): Show p.Ala312Val	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	8/22	1087/4587	935/2820	312/939	chr11	TogoVar
AP2A2_chr11_920870_1017240	993809	A A	C C	missense_variant missense_variant	MODERATE	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0009 a0002c0009	a0002c0009t0003 a0002c0009t0003	a0002c0009t0003g0150 a0002c0009t0003g0150	1	268	0.0037	c.160 others(4): Show c.1606A>C	p.Thr others(6): Show p.Thr536Pro	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	13/22	1758/4587	1606/2820	536/939	chr11	TogoVar
AP2A2_chr11_920870_1017240	993891	G G	A A	missense_variant missense_variant	MODERATE	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0004 a0003c0007t0004	a0003c0007t0004g0225 a0003c0007t0004g0225	1	268	0.0037	c.168 others(4): Show c.1688G>A	p.Arg others(6): Show p.Arg563His	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	13/22	1840/4587	1688/2820	563/939	chr11	TogoVar
AP2B1_chr17_35582322_35731413	35709304	A A	T T	missense_variant missense_variant	MODERATE	NA19068.hp2 NA19068.hp2	a0002 a0002	a0002c0007 a0002c0007	a0002c0007t0003 a0002c0007t0003	a0002c0007t0003g0045 a0002c0007t0003g0045	1	372	0.0027	c.253 others(4): Show c.2535A>T	p.Lys others(6): Show p.Lys845Asn	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	19/22	2665/5700	2535/2856	845/951	chr17	TogoVar
AP3B1_chr5_77997326_78299698	78003030	C C	A A	missense_variant missense_variant	MODERATE	HG03516.hp2 HG03516.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0002 a0006c0013t0002	a0006c0013t0002g0193 a0006c0013t0002g0193	1	226	0.0044	c.315 others(4): Show c.3157G>T	p.Gly others(7): Show p.Gly1053Trp	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	27/27	3276/3980	3157/3285	1053/1094	chr5	TogoVar
AP3B1_chr5_77997326_78299698	78015546	C C	T T	missense_variant others(1): Show missense_variant splice_region_variant	MODERATE	HG06807.hp1 HG06807.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0002 a0008c0011t0002	a0008c0011t0002g0165 a0008c0011t0002g0165	1	226	0.0044	c.299 others(4): Show c.2995G>A	p.Val others(6): Show p.Val999Met	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	26/27	3114/3980	2995/3285	999/1094	chr5	TogoVar
AP3B1_chr5_77997326_78299698	78039267	G G	A A	missense_variant missense_variant	MODERATE	HG02723.hp1 HG02723.hp1	a0007 a0007	a0007c0014 a0007c0014	a0007c0014t0002 a0007c0014t0002	a0007c0014t0002g0196 a0007c0014t0002g0196	1	226	0.0044	c.258 others(4): Show c.2585C>T	p.Thr others(6): Show p.Thr862Ile	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	23/27	2704/3980	2585/3285	862/1094	chr5	TogoVar
AP3B1_chr5_77997326_78299698	78129204	A A	T T	missense_variant missense_variant	MODERATE	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(185): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01070.hp1 HG01106.hp1 HG01106.hp2 HG01168.hp1 HG01168.hp2 HG01175.hp1 HG01175.hp2 HG01256.hp1 HG01256.hp2 HG01258.hp1 HG01258.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp2 HG02074.hp2 HG02083.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp1 HG02135.hp2 HG02148.hp1 HG02148.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02523.hp1 HG02523.hp2 HG02602.hp1 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02683.hp1 HG02683.hp2 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp1 HG02809.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03654.hp1 HG03654.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG04184.hp1 HG04184.hp2 HG04199.hp2 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18747.hp1 NA18906.hp2 NA18947.hp1 NA18947.hp2 NA18949.hp1 NA18949.hp2 NA18950.hp1 NA18950.hp2 NA18952.hp2 NA18956.hp2 NA18961.hp1 NA18961.hp2 NA18964.hp1 NA18964.hp2 NA18969.hp1 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18972.hp1 NA18973.hp1 NA18978.hp1 NA18978.hp2 NA18979.hp1 NA18979.hp2 NA18982.hp1 NA18982.hp2 NA18987.hp2 NA18988.hp1 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA18992.hp2 NA18995.hp1 NA18998.hp2 NA19002.hp1 NA19002.hp2 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19064.hp2 NA19068.hp1 NA19070.hp1 NA19074.hp1 NA19081.hp1 NA19081.hp2 NA19083.hp1 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0004 others(4): Show a0001 a0003 a0004 a0005 a0006 a0007 a0008	a0001c0001 a0001c0002 a0001c0004 others(12): Show a0001c0001 a0001c0002 a0001c0004 a0001c0005 a0001c0006 a0001c0010 a0001c0012 a0003c0007 a0003c0008 a0003c0009 a0004c0017 a0005c0015 a0006c0013 a0007c0014 a0008c0011	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(18): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0001c0006t0001 a0001c0010t0002 a0001c0012t0001 a0003c0007t0002 a0003c0008t0002 a0003c0009t0002 a0004c0017t0002 a0005c0015t0001 a0006c0013t0002 a0007c0014t0002 a0008c0011t0002	a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 others(185): Show a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0091 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0122 a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0147 a0001c0001t0001g0149 a0001c0001t0001g0161 a0001c0001t0001g0167 a0001c0001t0001g0173 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0097 a0001c0001t0002g0112 a0001c0001t0002g0115 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0123 a0001c0001t0002g0159 a0001c0001t0003g0121 a0001c0001t0004g0129 a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0180 a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0002g0064 a0001c0002t0002g0130 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0133 a0001c0002t0002g0134 a0001c0002t0002g0135 a0001c0002t0002g0136 a0001c0002t0002g0137 a0001c0002t0002g0143 a0001c0002t0002g0146 a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 a0001c0002t0002g0154 a0001c0002t0002g0155 a0001c0002t0002g0156 a0001c0002t0002g0157 a0001c0002t0002g0158 a0001c0002t0002g0160 a0001c0002t0002g0162 a0001c0002t0002g0164 a0001c0002t0002g0166 a0001c0002t0002g0168 a0001c0002t0002g0169 a0001c0002t0002g0170 a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0174 a0001c0002t0002g0175 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0178 a0001c0002t0002g0179 a0001c0004t0001g0005 a0001c0004t0001g0077 a0001c0004t0001g0087 a0001c0004t0002g0001 a0001c0004t0002g0002 a0001c0004t0002g0003 a0001c0004t0002g0006 a0001c0004t0002g0007 a0001c0004t0002g0085 a0001c0004t0002g0185 a0001c0004t0002g0186 a0001c0004t0002g0226 a0001c0005t0001g0195 a0001c0005t0002g0004 a0001c0005t0002g0187 a0001c0005t0002g0188 a0001c0005t0002g0189 a0001c0005t0002g0190 a0001c0005t0002g0191 a0001c0005t0002g0192 a0001c0005t0002g0194 a0001c0006t0001g0040 a0001c0006t0001g0113 a0001c0006t0001g0114 a0001c0006t0001g0120 a0001c0006t0001g0124 a0001c0006t0001g0125 a0001c0006t0001g0223 a0001c0010t0002g0024 a0001c0012t0001g0142 a0003c0007t0002g0072 a0003c0007t0002g0079 a0003c0007t0002g0081 a0003c0007t0002g0140 a0003c0007t0002g0141 a0003c0007t0002g0148 a0003c0008t0002g0035 a0003c0008t0002g0036 a0003c0008t0002g0038 a0003c0008t0002g0039 a0003c0009t0002g0074 a0003c0009t0002g0078 a0004c0017t0002g0163 a0005c0015t0001g0105 a0006c0013t0002g0193 a0007c0014t0002g0196 a0008c0011t0002g0165	188	226	0.8319	c.175 others(4): Show c.1754T>A	p.Val others(6): Show p.Val585Glu	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	16/27	1873/3980	1754/3285	585/1094	chr5	TogoVar
AP3B1_chr5_77997326_78299698	78129210	G G	A A	missense_variant missense_variant	MODERATE	HG03516.hp2 HG03516.hp2	a0006 a0006	a0006c0013 a0006c0013	a0006c0013t0002 a0006c0013t0002	a0006c0013t0002g0193 a0006c0013t0002g0193	1	226	0.0044	c.174 others(4): Show c.1748C>T	p.Pro others(6): Show p.Pro583Leu	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	16/27	1867/3980	1748/3285	583/1094	chr5	TogoVar
AP3B1_chr5_77997326_78299698	78129281	T T	G G	missense_variant missense_variant	MODERATE	HG01993.hp1 HG01993.hp1	a0005 a0005	a0005c0015 a0005c0015	a0005c0015t0001 a0005c0015t0001	a0005c0015t0001g0105 a0005c0015t0001g0105	1	226	0.0044	c.167 others(4): Show c.1677A>C	p.Leu others(6): Show p.Leu559Phe	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	16/27	1796/3980	1677/3285	559/1094	chr5	TogoVar
AP3B1_chr5_77997326_78299698	78156310	G G	A A	missense_variant missense_variant	MODERATE	NA18952.hp1 NA18952.hp1	a0009 a0009	a0009c0016 a0009c0016	a0009c0016t0001 a0009c0016t0001	a0009c0016t0001g0089 a0009c0016t0001g0089	1	226	0.0044	c.142 others(4): Show c.1421C>T	p.Ala others(6): Show p.Ala474Val	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	14/27	1540/3980	1421/3285	474/1094	chr5	TogoVar
AP3B1_chr5_77997326_78299698	78181599	T T	A A	missense_variant missense_variant	MODERATE	HG01952.hp1 HG01952.hp1	a0004 a0004	a0004c0017 a0004c0017	a0004c0017t0002 a0004c0017t0002	a0004c0017t0002g0163 a0004c0017t0002g0163	1	226	0.0044	c.850 others(3): Show c.850A>T	p.Thr others(6): Show p.Thr284Ser	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	8/27	969/3980	850/3285	284/1094	chr5	TogoVar
AP3B2_chr15_82654281_82714875	82662735	T T	C C	missense_variant missense_variant	MODERATE	HG00558.hp1 HG02027.hp1 HG02071.hp1 others(2): Show HG00558.hp1 HG02027.hp1 HG02071.hp1 HG02155.hp2 NA19088.hp2	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0115 others(2): Show a0003c0004t0001g0099 a0003c0004t0001g0100 a0003c0004t0001g0115 a0003c0004t0001g0116 a0003c0004t0001g0126	5	368	0.0136	c.279 others(4): Show c.2792A>G	p.Lys others(6): Show p.Lys931Arg	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	23/27	2961/3754	2792/3306	931/1101	chr15	TogoVar
AP3B2_chr15_82654281_82714875	82663197	G G	T T	missense_variant missense_variant	MODERATE	NA18982.hp2 NA18982.hp2	a0006 a0006	a0006c0012 a0006c0012	a0006c0012t0001 a0006c0012t0001	a0006c0012t0001g0138 a0006c0012t0001g0138	1	368	0.0027	c.253 others(4): Show c.2534C>A	p.Ala others(6): Show p.Ala845Glu	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	22/27	2703/3754	2534/3306	845/1101	chr15	TogoVar
AP3B2_chr15_82654281_82714875	82663959	C C	A A	missense_variant missense_variant	MODERATE	HG02015.hp2 HG02015.hp2	a0007 a0007	a0007c0016 a0007c0016	a0007c0016t0001 a0007c0016t0001	a0007c0016t0001g0187 a0007c0016t0001g0187	1	368	0.0027	c.227 others(4): Show c.2278G>T	p.Asp others(6): Show p.Asp760Tyr	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	20/27	2447/3754	2278/3306	760/1101	chr15	TogoVar
AP3B2_chr15_82654281_82714875	82665530	G G	A A	missense_variant missense_variant	MODERATE	HG02896.hp2 HG02897.hp2 HG02896.hp2 HG02897.hp2	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0001 a0004c0008t0001	a0004c0008t0001g0064 a0004c0008t0001g0081 a0004c0008t0001g0064 a0004c0008t0001g0081	2	368	0.0054	c.189 others(4): Show c.1898C>T	p.Ala others(6): Show p.Ala633Val	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	16/27	2067/3754	1898/3306	633/1101	chr15	TogoVar
AP3B2_chr15_82654281_82714875	82666848	T T	G G	missense_variant missense_variant	MODERATE	HG02683.hp2 HG02683.hp2	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0001 a0005c0018t0001	a0005c0018t0001g0360 a0005c0018t0001g0360	1	368	0.0027	c.175 others(4): Show c.1751A>C	p.Gln others(6): Show p.Gln584Pro	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	15/27	1920/3754	1751/3306	584/1101	chr15	TogoVar
AP3D1_chr19_2095988_2156566	2109158	T T	C C	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.340 others(4): Show c.3400A>G	p.Ile others(7): Show p.Ile1134Val	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	30/32	3632/5065	3400/3648	1134/1215	chr19	TogoVar
AP3D1_chr19_2095988_2156566	2110773	T T	C C	missense_variant missense_variant	MODERATE	HG02273.hp1 HG02273.hp1	a0005 a0005	a0005c0018 a0005c0018	a0005c0018t0001 a0005c0018t0001	a0005c0018t0001g0100 a0005c0018t0001g0100	1	406	0.0025	c.310 others(4): Show c.3109A>G	p.Arg others(7): Show p.Arg1037Gly	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	27/32	3341/5065	3109/3648	1037/1215	chr19	TogoVar
AP3D1_chr19_2095988_2156566	2115322	T T	C C	missense_variant missense_variant	MODERATE	NA19060.hp1 NA19060.hp1	a0006 a0006	a0006c0019 a0006c0019	a0006c0019t0002 a0006c0019t0002	a0006c0019t0002g0038 a0006c0019t0002g0038	1	406	0.0025	c.224 others(4): Show c.2246A>G	p.Lys others(6): Show p.Lys749Arg	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	20/32	2478/5065	2246/3648	749/1215	chr19	TogoVar

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