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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
AP2B1_chr17_35582322_35731413	35671885	T T	C C	synonymous_variant synonymous_variant	LOW	HG01074.hp2 HG01099.hp2 HG01123.hp2 others(6): Show HG01074.hp2 HG01099.hp2 HG01123.hp2 HG01243.hp1 HG01515.hp1 HG01517.hp2 HG02717.hp2 HG02818.hp2 HG03098.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0123 a0001c0004t0002g0124 a0001c0004t0002g0125 others(6): Show a0001c0004t0002g0123 a0001c0004t0002g0124 a0001c0004t0002g0125 a0001c0004t0002g0165 a0001c0004t0002g0166 a0001c0004t0002g0167 a0001c0004t0002g0168 a0001c0004t0002g0169 a0001c0004t0002g0178	9	372	0.0242	c.216 others(4): Show c.2163T>C	p.Tyr others(6): Show p.Tyr721Tyr	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	16/22	2293/5700	2163/2856	721/951	chr17	TogoVar
AP2M1_chr3_184169855_184189091	184177035	G G	C C	synonymous_variant synonymous_variant	LOW	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0060 a0001c0005t0001g0060	1	422	0.0024	c.42G others(2): Show c.42G>C	p.Val others(5): Show p.Val14Val	AP2M1	ENSG00000161203.14	transcript	ENST00000292807.9	protein_coding	2/12	190/1931	42/1308	14/435	chr3	TogoVar
AP2M1_chr3_184169855_184189091	184182044	C C	T T	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG01074.hp1 HG01074.hp2 others(52): Show HG00099.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01123.hp2 HG01168.hp2 HG01257.hp2 HG01261.hp1 HG01358.hp1 HG01496.hp2 HG01884.hp2 HG01978.hp2 HG02055.hp1 HG02055.hp2 HG02109.hp1 HG02145.hp2 HG02258.hp1 HG02258.hp2 HG02559.hp1 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02615.hp1 HG02622.hp1 HG02698.hp1 HG02723.hp1 HG02723.hp2 HG02818.hp1 HG02922.hp2 HG02970.hp2 HG02976.hp2 HG03130.hp1 HG03209.hp1 HG03453.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp1 HG03516.hp1 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA18522.hp1 NA18906.hp2 NA19043.hp2 NA19240.hp2 NA20300.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0001 a0001c0002t0002 a0001c0003t0001 a0001c0002t0001 a0001c0002t0002 a0001c0003t0001	a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0029 others(15): Show a0001c0002t0001g0018 a0001c0002t0001g0019 a0001c0002t0001g0029 a0001c0002t0001g0047 a0001c0002t0001g0049 a0001c0002t0001g0052 a0001c0002t0001g0061 a0001c0002t0001g0062 a0001c0002t0001g0064 a0001c0002t0002g0007 a0001c0002t0002g0033 a0001c0003t0001g0006 a0001c0003t0001g0020 a0001c0003t0001g0023 a0001c0003t0001g0038 a0001c0003t0001g0067 a0001c0003t0001g0090 a0001c0003t0001g0091	55	422	0.1303	c.960 others(3): Show c.960C>T	p.Ile others(6): Show p.Ile320Ile	AP2M1	ENSG00000161203.14	transcript	ENST00000292807.9	protein_coding	9/12	1108/1931	960/1308	320/435	chr3	TogoVar
AP2M1_chr3_184169855_184189091	184183493	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp2 HG01074.hp1 HG01074.hp2 others(21): Show HG00099.hp2 HG01074.hp1 HG01074.hp2 HG01106.hp1 HG01358.hp1 HG01496.hp2 HG01978.hp2 HG02258.hp1 HG02559.hp1 HG02602.hp1 HG02698.hp1 HG02723.hp1 HG02922.hp2 HG03491.hp2 HG03492.hp1 HG03654.hp2 HG03831.hp2 HG03927.hp2 HG04115.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp2 NA20805.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0006 a0001c0003t0001g0020 a0001c0003t0001g0023 others(4): Show a0001c0003t0001g0006 a0001c0003t0001g0020 a0001c0003t0001g0023 a0001c0003t0001g0038 a0001c0003t0001g0067 a0001c0003t0001g0090 a0001c0003t0001g0091	24	422	0.0569	c.118 others(4): Show c.1185G>A	p.Ala others(6): Show p.Ala395Ala	AP2M1	ENSG00000161203.14	transcript	ENST00000292807.9	protein_coding	12/12	1333/1931	1185/1308	395/435	chr3	TogoVar
AP2M1_chr3_184169855_184189091	184183601	T T	C C	synonymous_variant synonymous_variant	LOW	HG01109.hp1 HG01891.hp2 HG03195.hp2 others(3): Show HG01109.hp1 HG01891.hp2 HG03195.hp2 HG03225.hp2 HG03486.hp1 NA20129.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0016 a0001c0004t0004g0016	6	422	0.0142	c.129 others(4): Show c.1293T>C	p.Tyr others(6): Show p.Tyr431Tyr	AP2M1	ENSG00000161203.14	transcript	ENST00000292807.9	protein_coding	12/12	1441/1931	1293/1308	431/435	chr3	TogoVar
AP3B1_chr5_77997326_78299698	78116187	A A	G G	synonymous_variant synonymous_variant	LOW	HG00280.hp2 HG00597.hp2 HG00639.hp1 others(65): Show HG00280.hp2 HG00597.hp2 HG00639.hp1 HG00642.hp2 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01106.hp1 HG01168.hp1 HG01175.hp1 HG01361.hp2 HG01515.hp1 HG01884.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02055.hp2 HG02083.hp2 HG02135.hp1 HG02148.hp2 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02602.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp2 HG02738.hp1 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03516.hp2 HG03540.hp2 HG03654.hp1 HG04199.hp2 HG06807.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18956.hp2 NA18964.hp1 NA18969.hp1 NA18971.hp1 NA18978.hp2 NA18982.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA19002.hp2 NA19043.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA20129.hp2 NA20300.hp1 NA20905.hp1	a0001 a0003 a0004 others(2): Show a0001 a0003 a0004 a0006 a0008	a0001c0002 a0001c0004 a0001c0005 others(4): Show a0001c0002 a0001c0004 a0001c0005 a0003c0009 a0004c0017 a0006c0013 a0008c0011	a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 others(7): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0001 a0001c0004t0002 a0001c0005t0001 a0001c0005t0002 a0003c0009t0002 a0004c0017t0002 a0006c0013t0002 a0008c0011t0002	a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0180 others(65): Show 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 a0003c0009t0002g0074 a0003c0009t0002g0078 a0004c0017t0002g0163 a0006c0013t0002g0193 a0008c0011t0002g0165	68	226	0.3009	c.201 others(4): Show c.2016T>C	p.Ala others(6): Show p.Ala672Ala	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	18/27	2135/3980	2016/3285	672/1094	chr5	TogoVar
AP3B1_chr5_77997326_78299698	78129275	G G	A A	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG01106.hp2 HG01256.hp2 others(4): Show HG00099.hp1 HG01106.hp2 HG01256.hp2 HG01258.hp2 HG02683.hp2 NA20129.hp1 NA20752.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0040 a0001c0006t0001g0113 a0001c0006t0001g0114 others(4): Show a0001c0006t0001g0040 a0001c0006t0001g0113 a0001c0006t0001g0114 a0001c0006t0001g0120 a0001c0006t0001g0124 a0001c0006t0001g0125 a0001c0006t0001g0223	7	226	0.0310	c.168 others(4): Show c.1683C>T	p.Leu others(6): Show p.Leu561Leu	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	16/27	1802/3980	1683/3285	561/1094	chr5	TogoVar
AP3B1_chr5_77997326_78299698	78175677	C C	G G	synonymous_variant synonymous_variant	LOW	HG01168.hp1 HG02055.hp2 HG02280.hp1 others(7): Show HG01168.hp1 HG02055.hp2 HG02280.hp1 HG02451.hp1 HG02630.hp2 HG02647.hp2 HG02886.hp1 HG03486.hp1 HG03516.hp2 NA20300.hp1	a0001 a0006 a0001 a0006	a0001c0005 a0006c0013 a0001c0005 a0006c0013	a0001c0005t0001 a0001c0005t0002 a0006c0013t0002 a0001c0005t0001 a0001c0005t0002 a0006c0013t0002	a0001c0005t0001g0195 a0001c0005t0002g0004 a0001c0005t0002g0187 others(7): Show a0001c0005t0001g0195 a0001c0005t0002g0004 a0001c0005t0002g0187 a0001c0005t0002g0188 a0001c0005t0002g0189 a0001c0005t0002g0190 a0001c0005t0002g0191 a0001c0005t0002g0192 a0001c0005t0002g0194 a0006c0013t0002g0193	10	226	0.0443	c.111 others(4): Show c.1116G>C	p.Leu others(6): Show p.Leu372Leu	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	11/27	1235/3980	1116/3285	372/1094	chr5	TogoVar
AP3B1_chr5_77997326_78299698	78177341	A A	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG00280.hp2 HG00597.hp2 HG00639.hp1 others(48): Show HG00280.hp2 HG00597.hp2 HG00639.hp1 HG00735.hp1 HG00741.hp2 HG01070.hp1 HG01106.hp1 HG01175.hp1 HG01361.hp2 HG01515.hp1 HG01928.hp1 HG01943.hp2 HG01952.hp1 HG01978.hp2 HG01981.hp1 HG02015.hp2 HG02083.hp2 HG02135.hp1 HG02148.hp2 HG02602.hp1 HG02723.hp2 HG02738.hp1 HG02818.hp1 HG02895.hp1 HG03130.hp1 HG03139.hp1 HG03540.hp1 HG03654.hp1 HG04199.hp2 HG06807.hp1 NA18947.hp1 NA18949.hp2 NA18950.hp1 NA18956.hp2 NA18964.hp1 NA18969.hp1 NA18971.hp1 NA18978.hp2 NA18982.hp1 NA18987.hp2 NA18988.hp2 NA18989.hp1 NA18990.hp2 NA18992.hp1 NA19002.hp2 NA19030.hp1 NA19064.hp2 NA19070.hp1 NA19074.hp1 NA19081.hp2 NA20905.hp1	a0001 a0003 a0004 others(1): Show a0001 a0003 a0004 a0008	a0001c0002 a0001c0012 a0003c0007 others(2): Show a0001c0002 a0001c0012 a0003c0007 a0004c0017 a0008c0011	a0001c0002t0001 a0001c0002t0002 a0001c0012t0001 others(3): Show a0001c0002t0001 a0001c0002t0002 a0001c0012t0001 a0003c0007t0002 a0004c0017t0002 a0008c0011t0002	a0001c0002t0001g0138 a0001c0002t0001g0139 a0001c0002t0001g0180 others(48): Show 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 a0001c0012t0001g0142 a0003c0007t0002g0072 a0003c0007t0002g0079 a0003c0007t0002g0081 a0003c0007t0002g0140 a0003c0007t0002g0141 a0003c0007t0002g0148 a0004c0017t0002g0163 a0008c0011t0002g0165	51	226	0.2257	c.103 others(4): Show c.1038T>C	p.Asn others(6): Show p.Asn346Asn	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	9/27	1157/3980	1038/3285	346/1094	chr5	TogoVar
AP3B1_chr5_77997326_78299698	78181507	C C	T T	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	NA18970.hp1 NA18970.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0002 a0001c0010t0002	a0001c0010t0002g0024 a0001c0010t0002g0024	1	226	0.0044	c.942 others(3): Show c.942G>A	p.Ala others(6): Show p.Ala314Ala	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	8/27	1061/3980	942/3285	314/1094	chr5	TogoVar
AP3B1_chr5_77997326_78299698	78216154	T T	C C	synonymous_variant synonymous_variant	LOW	HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show HG01884.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0035 a0003c0008t0002g0036 a0003c0008t0002g0038 others(1): Show a0003c0008t0002g0035 a0003c0008t0002g0036 a0003c0008t0002g0038 a0003c0008t0002g0039	4	226	0.0177	c.687 others(3): Show c.687A>G	p.Leu others(6): Show p.Leu229Leu	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/27	806/3980	687/3285	229/1094	chr5	TogoVar
AP3B1_chr5_77997326_78299698	78228180	T T	G G	synonymous_variant synonymous_variant	LOW	HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show HG01884.hp2 NA18522.hp2 NA18906.hp2 NA19043.hp2	a0003 a0003	a0003c0008 a0003c0008	a0003c0008t0002 a0003c0008t0002	a0003c0008t0002g0035 a0003c0008t0002g0036 a0003c0008t0002g0038 others(1): Show a0003c0008t0002g0035 a0003c0008t0002g0036 a0003c0008t0002g0038 a0003c0008t0002g0039	4	226	0.0177	c.339 others(3): Show c.339A>C	p.Ala others(6): Show p.Ala113Ala	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	4/27	458/3980	339/3285	113/1094	chr5	TogoVar
AP3B2_chr15_82654281_82714875	82661832	C C	T T	synonymous_variant synonymous_variant	LOW	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0001 a0001c0014t0001	a0001c0014t0001g0195 a0001c0014t0001g0195	1	368	0.0027	c.300 others(4): Show c.3009G>A	p.Lys others(7): Show p.Lys1003Lys	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	25/27	3178/3754	3009/3306	1003/1101	chr15	TogoVar
AP3B2_chr15_82654281_82714875	82662245	C C	G G	synonymous_variant synonymous_variant	LOW	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0001 a0001c0013t0001	a0001c0013t0001g0212 a0001c0013t0001g0212	1	368	0.0027	c.284 others(4): Show c.2841G>C	p.Leu others(6): Show p.Leu947Leu	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	24/27	3010/3754	2841/3306	947/1101	chr15	TogoVar
AP3B2_chr15_82654281_82714875	82663888	G G	A A	synonymous_variant synonymous_variant	LOW	NA20805.hp2 NA20805.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0001 a0001c0015t0001	a0001c0015t0001g0117 a0001c0015t0001g0117	1	368	0.0027	c.234 others(4): Show c.2349C>T	p.Ser others(6): Show p.Ser783Ser	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	20/27	2518/3754	2349/3306	783/1101	chr15	TogoVar
AP3B2_chr15_82654281_82714875	82665259	G G	A A	synonymous_variant synonymous_variant	LOW	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0001 a0001c0017t0001	a0001c0017t0001g0281 a0001c0017t0001g0281	1	368	0.0027	c.201 others(4): Show c.2016C>T	p.Gly others(6): Show p.Gly672Gly	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	17/27	2185/3754	2016/3306	672/1101	chr15	TogoVar
AP3B2_chr15_82654281_82714875	82665264	A A	G G	synonymous_variant synonymous_variant	LOW	HG00323.hp2 HG02109.hp2 HG02145.hp2 others(15): Show HG00323.hp2 HG02109.hp2 HG02145.hp2 HG02273.hp2 HG02572.hp1 HG02615.hp1 HG02809.hp1 HG02809.hp2 HG02895.hp1 HG02897.hp1 HG03130.hp1 HG03195.hp1 HG03195.hp2 HG03516.hp1 HG03710.hp2 HG06807.hp1 NA18522.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0006 a0001c0002 a0001c0006	a0001c0002t0001 a0001c0006t0001 a0001c0002t0001 a0001c0006t0001	a0001c0002t0001g0004 a0001c0002t0001g0154 a0001c0002t0001g0155 others(14): Show a0001c0002t0001g0004 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0001g0338 a0001c0002t0001g0339 a0001c0002t0001g0340 a0001c0002t0001g0341 a0001c0002t0001g0342 a0001c0006t0001g0090 a0001c0006t0001g0091 a0001c0006t0001g0092 a0001c0006t0001g0093	18	368	0.0489	c.201 others(4): Show c.2011T>C	p.Leu others(6): Show p.Leu671Leu	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	17/27	2180/3754	2011/3306	671/1101	chr15	TogoVar
AP3B2_chr15_82654281_82714875	82665493	C C	T T	synonymous_variant synonymous_variant	LOW	HG00323.hp2 HG02109.hp2 HG02145.hp2 others(11): Show HG00323.hp2 HG02109.hp2 HG02145.hp2 HG02273.hp2 HG02572.hp1 HG02615.hp1 HG02809.hp1 HG02895.hp1 HG02897.hp1 HG03130.hp1 HG03195.hp2 HG03516.hp1 HG03710.hp2 NA19030.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0004 a0001c0002t0001g0154 a0001c0002t0001g0155 others(10): Show a0001c0002t0001g0004 a0001c0002t0001g0154 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0334 a0001c0002t0001g0335 a0001c0002t0001g0336 a0001c0002t0001g0337 a0001c0002t0001g0338 a0001c0002t0001g0339 a0001c0002t0001g0340 a0001c0002t0001g0341 a0001c0002t0001g0342	14	368	0.0380	c.193 others(4): Show c.1935G>A	p.Pro others(6): Show p.Pro645Pro	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	16/27	2104/3754	1935/3306	645/1101	chr15	TogoVar
AP3B2_chr15_82654281_82714875	82680552	C C	T T	synonymous_variant synonymous_variant	LOW	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0005 a0001c0011t0005	a0001c0011t0005g0173 a0001c0011t0005g0173	1	368	0.0027	c.975 others(3): Show c.975G>A	p.Ala others(6): Show p.Ala325Ala	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	8/27	1144/3754	975/3306	325/1101	chr15	TogoVar
AP3B2_chr15_82654281_82714875	82680840	C C	T T	synonymous_variant synonymous_variant	LOW	HG01074.hp1 HG01074.hp1	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0050 a0001c0010t0001g0050	1	368	0.0027	c.768 others(3): Show c.768G>A	p.Gln others(6): Show p.Gln256Gln	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	7/27	937/3754	768/3306	256/1101	chr15	TogoVar
AP3B2_chr15_82654281_82714875	82680885	G G	A A	synonymous_variant synonymous_variant	LOW	HG02818.hp1 HG03098.hp1 HG03209.hp1 others(2): Show HG02818.hp1 HG03098.hp1 HG03209.hp1 NA18906.hp1 NA21309.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0028 a0001c0005t0001g0301 a0001c0005t0001g0302 others(2): Show a0001c0005t0001g0028 a0001c0005t0001g0301 a0001c0005t0001g0302 a0001c0005t0001g0303 a0001c0005t0001g0331	5	368	0.0136	c.723 others(3): Show c.723C>T	p.Ser others(6): Show p.Ser241Ser	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	7/27	892/3754	723/3306	241/1101	chr15	TogoVar
AP3B2_chr15_82654281_82714875	82681112	C C	G G	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0324 a0001c0009t0001g0324	1	368	0.0027	c.588 others(3): Show c.588G>C	p.Thr others(6): Show p.Thr196Thr	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	6/27	757/3754	588/3306	196/1101	chr15	TogoVar
AP3B2_chr15_82654281_82714875	82688787	C C	T T	synonymous_variant synonymous_variant	LOW	NA18955.hp2 NA18999.hp1 NA18955.hp2 NA18999.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0111 a0001c0007t0001g0114 a0001c0007t0001g0111 a0001c0007t0001g0114	2	368	0.0054	c.309 others(3): Show c.309G>A	p.Glu others(6): Show p.Glu103Glu	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	4/27	478/3754	309/3306	103/1101	chr15	TogoVar
AP3B2_chr15_82654281_82714875	82709614	G G	A A	synonymous_variant synonymous_variant	LOW	HG03834.hp1 HG03834.hp1	a0001 a0001	a0001c0019 a0001c0019	a0001c0019t0001 a0001c0019t0001	a0001c0019t0001g0361 a0001c0019t0001g0361	1	368	0.0027	c.93C others(2): Show c.93C>T	p.Ile others(5): Show p.Ile31Ile	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	1/27	262/3754	93/3306	31/1101	chr15	TogoVar
AP3D1_chr19_2095988_2156566	2102206	T T	C C	synonymous_variant synonymous_variant	LOW	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0016 a0001c0016	a0001c0016t0002 a0001c0016t0002	a0001c0016t0002g0097 a0001c0016t0002g0097	1	406	0.0025	c.361 others(4): Show c.3615A>G	p.Leu others(7): Show p.Leu1205Leu	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	32/32	3847/5065	3615/3648	1205/1215	chr19	TogoVar
AP3D1_chr19_2095988_2156566	2102242	C C	A A	synonymous_variant synonymous_variant	LOW	NA19063.hp2 NA19063.hp2	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0003 a0001c0017t0003	a0001c0017t0003g0366 a0001c0017t0003g0366	1	406	0.0025	c.357 others(4): Show c.3579G>T	p.Gly others(7): Show p.Gly1193Gly	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	32/32	3811/5065	3579/3648	1193/1215	chr19	TogoVar
AP3D1_chr19_2095988_2156566	2108753	C C	T T	synonymous_variant synonymous_variant	LOW	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0014 a0001c0014	a0001c0014t0013 a0001c0014t0013	a0001c0014t0013g0007 a0001c0014t0013g0007	1	406	0.0025	c.348 others(4): Show c.3486G>A	p.Val others(7): Show p.Val1162Val	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	31/32	3718/5065	3486/3648	1162/1215	chr19	TogoVar
AP3D1_chr19_2095988_2156566	2110747	G G	A A	synonymous_variant synonymous_variant	LOW	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(141): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00438.hp1 HG00558.hp2 HG00597.hp2 HG00639.hp2 HG00642.hp1 HG00673.hp1 HG00735.hp1 HG01070.hp2 HG01123.hp1 HG01123.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01928.hp2 HG01952.hp2 HG01993.hp1 HG02040.hp2 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18940.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp1 NA18951.hp2 NA18955.hp1 NA18957.hp1 NA18962.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18967.hp2 NA18969.hp1 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18975.hp1 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18980.hp1 NA18981.hp1 NA18983.hp1 NA18984.hp2 NA18985.hp2 NA18989.hp1 NA18990.hp1 NA18992.hp1 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp2 NA19002.hp1 NA19003.hp1 NA19005.hp2 NA19009.hp2 NA19010.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp2 NA19057.hp2 NA19060.hp1 NA19062.hp2 NA19063.hp1 NA19065.hp1 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA19088.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA20300.hp1 NA20805.hp1 NA20905.hp1 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0003 a0001c0004 a0001c0005 others(10): Show a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0012 a0001c0014 a0001c0020 a0002c0007 a0002c0009 a0004c0013 a0006c0019	a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 others(17): Show a0001c0003t0001 a0001c0003t0002 a0001c0003t0005 a0001c0003t0009 a0001c0004t0002 a0001c0004t0014 a0001c0005t0002 a0001c0006t0002 a0001c0006t0008 a0001c0006t0015 a0001c0008t0002 a0001c0008t0011 a0001c0011t0005 a0001c0012t0007 a0001c0014t0013 a0001c0020t0002 a0002c0007t0004 a0002c0009t0002 a0004c0013t0002 a0006c0019t0002	a0001c0003t0001g0071 a0001c0003t0001g0191 a0001c0003t0002g0024 others(141): Show a0001c0003t0001g0071 a0001c0003t0001g0191 a0001c0003t0002g0024 a0001c0003t0002g0026 a0001c0003t0002g0027 a0001c0003t0002g0028 a0001c0003t0002g0030 a0001c0003t0002g0031 a0001c0003t0002g0032 a0001c0003t0002g0034 a0001c0003t0002g0036 a0001c0003t0002g0037 a0001c0003t0002g0041 a0001c0003t0002g0042 a0001c0003t0002g0043 a0001c0003t0002g0046 a0001c0003t0002g0048 a0001c0003t0002g0050 a0001c0003t0002g0052 a0001c0003t0002g0053 a0001c0003t0002g0054 a0001c0003t0002g0073 a0001c0003t0002g0079 a0001c0003t0002g0186 a0001c0003t0002g0188 a0001c0003t0002g0189 a0001c0003t0002g0190 a0001c0003t0002g0192 a0001c0003t0002g0193 a0001c0003t0002g0194 a0001c0003t0002g0195 a0001c0003t0002g0196 a0001c0003t0002g0197 a0001c0003t0002g0198 a0001c0003t0002g0199 a0001c0003t0002g0200 a0001c0003t0002g0201 a0001c0003t0002g0203 a0001c0003t0002g0208 a0001c0003t0002g0249 a0001c0003t0002g0325 a0001c0003t0002g0326 a0001c0003t0002g0327 a0001c0003t0002g0329 a0001c0003t0002g0338 a0001c0003t0002g0343 a0001c0003t0002g0344 a0001c0003t0005g0114 a0001c0003t0005g0207 a0001c0003t0005g0211 a0001c0003t0005g0212 a0001c0003t0009g0348 a0001c0003t0009g0349 a0001c0004t0002g0045 a0001c0004t0002g0051 a0001c0004t0002g0147 a0001c0004t0002g0206 a0001c0004t0002g0213 a0001c0004t0002g0214 a0001c0004t0002g0215 a0001c0004t0002g0216 a0001c0004t0002g0217 a0001c0004t0002g0218 a0001c0004t0002g0219 a0001c0004t0002g0220 a0001c0004t0002g0221 a0001c0004t0002g0222 a0001c0004t0002g0223 a0001c0004t0002g0224 a0001c0004t0002g0225 a0001c0004t0002g0226 a0001c0004t0002g0227 a0001c0004t0002g0228 a0001c0004t0002g0229 a0001c0004t0002g0230 a0001c0004t0002g0231 a0001c0004t0002g0233 a0001c0004t0002g0234 a0001c0004t0002g0235 a0001c0004t0002g0236 a0001c0004t0002g0238 a0001c0004t0002g0239 a0001c0004t0002g0240 a0001c0004t0002g0241 a0001c0004t0002g0242 a0001c0004t0002g0244 a0001c0004t0002g0246 a0001c0004t0002g0247 a0001c0004t0002g0248 a0001c0004t0014g0237 a0001c0005t0002g0018 a0001c0005t0002g0019 a0001c0005t0002g0020 a0001c0005t0002g0021 a0001c0005t0002g0022 a0001c0005t0002g0023 a0001c0005t0002g0025 a0001c0005t0002g0029 a0001c0005t0002g0033 a0001c0005t0002g0035 a0001c0005t0002g0039 a0001c0005t0002g0040 a0001c0005t0002g0044 a0001c0005t0002g0047 a0001c0006t0002g0009 a0001c0006t0002g0260 a0001c0006t0002g0308 a0001c0006t0002g0311 a0001c0006t0002g0312 a0001c0006t0002g0314 a0001c0006t0002g0317 a0001c0006t0002g0330 a0001c0006t0008g0256 a0001c0006t0008g0319 a0001c0006t0015g0384 a0001c0008t0002g0181 a0001c0008t0002g0184 a0001c0008t0002g0185 a0001c0008t0002g0253 a0001c0008t0011g0398 a0001c0008t0011g0399 a0001c0011t0005g0209 a0001c0011t0005g0210 a0001c0012t0007g0182 a0001c0012t0007g0183 a0001c0014t0013g0007 a0001c0020t0002g0232 a0002c0007t0004g0386 a0002c0007t0004g0387 a0002c0007t0004g0388 a0002c0007t0004g0389 a0002c0007t0004g0390 a0002c0007t0004g0391 a0002c0007t0004g0392 a0002c0007t0004g0393 a0002c0007t0004g0394 a0002c0007t0004g0395 a0002c0009t0002g0265 a0002c0009t0002g0276 a0002c0009t0002g0277 a0002c0009t0002g0278 a0002c0009t0002g0292 a0004c0013t0002g0245 a0006c0019t0002g0038	144	406	0.3547	c.313 others(4): Show c.3135C>T	p.Ser others(7): Show p.Ser1045Ser	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	27/32	3367/5065	3135/3648	1045/1215	chr19	TogoVar
AP3D1_chr19_2095988_2156566	2110759	C C	T T	synonymous_variant synonymous_variant	LOW	NA18946.hp2 NA18946.hp2	a0001 a0001	a0001c0015 a0001c0015	a0001c0015t0003 a0001c0015t0003	a0001c0015t0003g0363 a0001c0015t0003g0363	1	406	0.0025	c.312 others(4): Show c.3123G>A	p.Pro others(7): Show p.Pro1041Pro	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	27/32	3355/5065	3123/3648	1041/1215	chr19	TogoVar
AP3D1_chr19_2095988_2156566	2113348	G G	A A	synonymous_variant synonymous_variant	LOW	HG00639.hp1 HG00733.hp1 HG01168.hp2 others(1): Show HG00639.hp1 HG00733.hp1 HG01168.hp2 HG02055.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0266 a0001c0010t0001g0286 a0001c0010t0001g0293 others(1): Show a0001c0010t0001g0266 a0001c0010t0001g0286 a0001c0010t0001g0293 a0001c0010t0001g0299	4	406	0.0099	c.266 others(4): Show c.2667C>T	p.Pro others(6): Show p.Pro889Pro	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	23/32	2899/5065	2667/3648	889/1215	chr19	TogoVar
AP3D1_chr19_2095988_2156566	2114176	T T	C C	synonymous_variant synonymous_variant	LOW	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.255 others(4): Show c.2550A>G	p.Lys others(6): Show p.Lys850Lys	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	22/32	2782/5065	2550/3648	850/1215	chr19	TogoVar
AP3D1_chr19_2095988_2156566	2115384	C C	T T	synonymous_variant synonymous_variant	LOW	HG00597.hp2 HG00642.hp1 HG01070.hp2 others(11): Show HG00597.hp2 HG00642.hp1 HG01070.hp2 HG01928.hp2 HG01952.hp2 HG01993.hp1 HG02300.hp1 NA18955.hp1 NA18975.hp1 NA18977.hp1 NA18985.hp2 NA18994.hp1 NA19055.hp1 NA19068.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0018 a0001c0005t0002g0019 a0001c0005t0002g0020 others(11): Show a0001c0005t0002g0018 a0001c0005t0002g0019 a0001c0005t0002g0020 a0001c0005t0002g0021 a0001c0005t0002g0022 a0001c0005t0002g0023 a0001c0005t0002g0025 a0001c0005t0002g0029 a0001c0005t0002g0033 a0001c0005t0002g0035 a0001c0005t0002g0039 a0001c0005t0002g0040 a0001c0005t0002g0044 a0001c0005t0002g0047	14	406	0.0345	c.218 others(4): Show c.2184G>A	p.Glu others(6): Show p.Glu728Glu	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	20/32	2416/5065	2184/3648	728/1215	chr19	TogoVar
AP3D1_chr19_2095988_2156566	2115578	G G	A A	synonymous_variant synonymous_variant	LOW	HG02965.hp1 HG06807.hp1 HG02965.hp1 HG06807.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0005 a0001c0011t0005	a0001c0011t0005g0209 a0001c0011t0005g0210 a0001c0011t0005g0209 a0001c0011t0005g0210	2	406	0.0049	c.210 others(4): Show c.2109C>T	p.Pro others(6): Show p.Pro703Pro	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	19/32	2341/5065	2109/3648	703/1215	chr19	TogoVar
AP3D1_chr19_2095988_2156566	2116617	T T	C C	synonymous_variant synonymous_variant	LOW	HG02970.hp2 NA19240.hp1 HG02970.hp2 NA19240.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0007 a0001c0012t0007	a0001c0012t0007g0182 a0001c0012t0007g0183 a0001c0012t0007g0182 a0001c0012t0007g0183	2	406	0.0049	c.198 others(4): Show c.1989A>G	p.Glu others(6): Show p.Glu663Glu	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	17/32	2221/5065	1989/3648	663/1215	chr19	TogoVar
AP3D1_chr19_2095988_2156566	2116650	A A	G G	synonymous_variant synonymous_variant	LOW	HG00280.hp1 HG00323.hp1 HG00438.hp1 others(63): Show HG00280.hp1 HG00323.hp1 HG00438.hp1 HG00558.hp2 HG00639.hp2 HG00673.hp1 HG00735.hp1 HG01123.hp1 HG01123.hp2 HG01433.hp1 HG01515.hp2 HG01517.hp1 HG02080.hp1 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02293.hp2 HG02486.hp2 HG02602.hp1 HG02698.hp2 HG02735.hp2 HG02922.hp1 HG03225.hp1 HG03239.hp1 HG03471.hp1 HG03491.hp2 HG03492.hp2 HG03654.hp1 HG03710.hp2 HG04204.hp1 NA18947.hp2 NA18950.hp1 NA18950.hp2 NA18951.hp2 NA18965.hp2 NA18966.hp2 NA18967.hp2 NA18970.hp2 NA18971.hp1 NA18973.hp1 NA18977.hp2 NA18978.hp1 NA18981.hp1 NA18984.hp2 NA18990.hp1 NA18992.hp1 NA18994.hp2 NA18995.hp1 NA18998.hp2 NA19003.hp1 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19043.hp1 NA19056.hp2 NA19057.hp2 NA19062.hp2 NA19063.hp1 NA19079.hp1 NA19079.hp2 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA20129.hp2 NA20805.hp1 NA21309.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0004 a0001c0006 a0001c0014 others(4): Show a0001c0004 a0001c0006 a0001c0014 a0001c0020 a0002c0007 a0002c0009 a0004c0013	a0001c0004t0002 a0001c0004t0014 a0001c0006t0002 others(7): Show a0001c0004t0002 a0001c0004t0014 a0001c0006t0002 a0001c0006t0008 a0001c0006t0015 a0001c0014t0013 a0001c0020t0002 a0002c0007t0004 a0002c0009t0002 a0004c0013t0002	a0001c0004t0002g0045 a0001c0004t0002g0051 a0001c0004t0002g0147 others(63): Show a0001c0004t0002g0045 a0001c0004t0002g0051 a0001c0004t0002g0147 a0001c0004t0002g0206 a0001c0004t0002g0213 a0001c0004t0002g0214 a0001c0004t0002g0215 a0001c0004t0002g0216 a0001c0004t0002g0217 a0001c0004t0002g0218 a0001c0004t0002g0219 a0001c0004t0002g0220 a0001c0004t0002g0221 a0001c0004t0002g0222 a0001c0004t0002g0223 a0001c0004t0002g0224 a0001c0004t0002g0225 a0001c0004t0002g0226 a0001c0004t0002g0227 a0001c0004t0002g0228 a0001c0004t0002g0229 a0001c0004t0002g0230 a0001c0004t0002g0231 a0001c0004t0002g0233 a0001c0004t0002g0234 a0001c0004t0002g0235 a0001c0004t0002g0236 a0001c0004t0002g0238 a0001c0004t0002g0239 a0001c0004t0002g0240 a0001c0004t0002g0241 a0001c0004t0002g0242 a0001c0004t0002g0244 a0001c0004t0002g0246 a0001c0004t0002g0247 a0001c0004t0002g0248 a0001c0004t0014g0237 a0001c0006t0002g0009 a0001c0006t0002g0260 a0001c0006t0002g0308 a0001c0006t0002g0311 a0001c0006t0002g0312 a0001c0006t0002g0314 a0001c0006t0002g0317 a0001c0006t0002g0330 a0001c0006t0008g0256 a0001c0006t0008g0319 a0001c0006t0015g0384 a0001c0014t0013g0007 a0001c0020t0002g0232 a0002c0007t0004g0386 a0002c0007t0004g0387 a0002c0007t0004g0388 a0002c0007t0004g0389 a0002c0007t0004g0390 a0002c0007t0004g0391 a0002c0007t0004g0392 a0002c0007t0004g0393 a0002c0007t0004g0394 a0002c0007t0004g0395 a0002c0009t0002g0265 a0002c0009t0002g0276 a0002c0009t0002g0277 a0002c0009t0002g0278 a0002c0009t0002g0292 a0004c0013t0002g0245	66	406	0.1626	c.195 others(4): Show c.1956T>C	p.Arg others(6): Show p.Arg652Arg	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	17/32	2188/5065	1956/3648	652/1215	chr19	TogoVar
AP3D1_chr19_2095988_2156566	2117335	G G	A A	synonymous_variant synonymous_variant	LOW	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0020 a0001c0020	a0001c0020t0002 a0001c0020t0002	a0001c0020t0002g0232 a0001c0020t0002g0232	1	406	0.0025	c.174 others(4): Show c.1746C>T	p.Ile others(6): Show p.Ile582Ile	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	16/32	1978/5065	1746/3648	582/1215	chr19	TogoVar
AP3D1_chr19_2095988_2156566	2118625	G G	A A	synonymous_variant synonymous_variant	LOW	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0165 a0001c0021t0001g0165	1	406	0.0025	c.168 others(4): Show c.1689C>T	p.Ser others(6): Show p.Ser563Ser	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	15/32	1921/5065	1689/3648	563/1215	chr19	TogoVar
AP3D1_chr19_2095988_2156566	2118739	G G	A A	synonymous_variant synonymous_variant	LOW	HG01346.hp2 HG01346.hp2	a0001 a0001	a0001c0022 a0001c0022	a0001c0022t0001 a0001c0022t0001	a0001c0022t0001g0082 a0001c0022t0001g0082	1	406	0.0025	c.157 others(4): Show c.1575C>T	p.Asn others(6): Show p.Asn525Asn	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	15/32	1807/5065	1575/3648	525/1215	chr19	TogoVar
AP3D1_chr19_2095988_2156566	2129161	G G	A A	splice_region_variant others(1): Show splice_region_variant synonymous_variant	LOW	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0023 a0001c0023	a0001c0023t0005 a0001c0023t0005	a0001c0023t0005g0059 a0001c0023t0005g0059	1	406	0.0025	c.735 others(3): Show c.735C>T	p.Phe others(6): Show p.Phe245Phe	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	8/32	967/5065	735/3648	245/1215	chr19	TogoVar
AP3D1_chr19_2095988_2156566	2138655	T T	G G	synonymous_variant synonymous_variant	LOW	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(92): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp2 HG00438.hp1 HG00597.hp1 HG00639.hp1 HG00733.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp2 HG01496.hp1 HG01516.hp1 HG01952.hp1 HG01975.hp1 HG02015.hp1 HG02055.hp2 HG02080.hp1 HG02135.hp1 HG02145.hp2 HG02165.hp2 HG02257.hp2 HG02258.hp1 HG02486.hp2 HG02559.hp2 HG02602.hp2 HG02683.hp2 HG02698.hp1 HG02717.hp2 HG02809.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03017.hp2 HG03471.hp1 HG03654.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp2 HG04228.hp2 NA18943.hp2 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18951.hp2 NA18952.hp1 NA18956.hp1 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18971.hp2 NA18974.hp2 NA18978.hp1 NA18979.hp1 NA18984.hp1 NA18990.hp1 NA18992.hp2 NA18998.hp1 NA19009.hp1 NA19011.hp2 NA19012.hp1 NA19030.hp1 NA19043.hp1 NA19055.hp2 NA19056.hp2 NA19057.hp1 NA19060.hp2 NA19062.hp2 NA19064.hp2 NA19065.hp2 NA19066.hp2 NA19087.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0002 a0001c0006 a0001c0008 others(3): Show a0001c0002 a0001c0006 a0001c0008 a0001c0010 a0002c0009 a0003c0024	a0001c0002t0001 a0001c0002t0012 a0001c0006t0002 others(7): Show a0001c0002t0001 a0001c0002t0012 a0001c0006t0002 a0001c0006t0008 a0001c0006t0015 a0001c0008t0002 a0001c0008t0011 a0001c0010t0001 a0002c0009t0002 a0003c0024t0001	a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0187 others(89): Show a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0187 a0001c0002t0001g0250 a0001c0002t0001g0251 a0001c0002t0001g0252 a0001c0002t0001g0254 a0001c0002t0001g0255 a0001c0002t0001g0257 a0001c0002t0001g0258 a0001c0002t0001g0259 a0001c0002t0001g0261 a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0002t0001g0267 a0001c0002t0001g0268 a0001c0002t0001g0269 a0001c0002t0001g0270 a0001c0002t0001g0271 a0001c0002t0001g0272 a0001c0002t0001g0273 a0001c0002t0001g0274 a0001c0002t0001g0275 a0001c0002t0001g0279 a0001c0002t0001g0280 a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0284 a0001c0002t0001g0285 a0001c0002t0001g0287 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0001g0290 a0001c0002t0001g0291 a0001c0002t0001g0294 a0001c0002t0001g0295 a0001c0002t0001g0296 a0001c0002t0001g0297 a0001c0002t0001g0298 a0001c0002t0001g0300 a0001c0002t0001g0301 a0001c0002t0001g0302 a0001c0002t0001g0303 a0001c0002t0001g0304 a0001c0002t0001g0305 a0001c0002t0001g0306 a0001c0002t0001g0307 a0001c0002t0001g0309 a0001c0002t0001g0310 a0001c0002t0001g0313 a0001c0002t0001g0315 a0001c0002t0001g0316 a0001c0002t0001g0318 a0001c0002t0001g0320 a0001c0002t0001g0321 a0001c0002t0001g0322 a0001c0002t0001g0323 a0001c0002t0001g0324 a0001c0002t0001g0331 a0001c0002t0001g0332 a0001c0002t0001g0339 a0001c0002t0001g0340 a0001c0002t0001g0341 a0001c0002t0001g0342 a0001c0002t0012g0006 a0001c0006t0002g0009 a0001c0006t0002g0260 a0001c0006t0002g0308 a0001c0006t0002g0311 a0001c0006t0002g0312 a0001c0006t0002g0314 a0001c0006t0002g0317 a0001c0006t0002g0330 a0001c0006t0008g0256 a0001c0006t0008g0319 a0001c0006t0015g0384 a0001c0008t0002g0181 a0001c0008t0002g0184 a0001c0008t0002g0185 a0001c0008t0002g0253 a0001c0008t0011g0398 a0001c0008t0011g0399 a0001c0010t0001g0266 a0001c0010t0001g0286 a0001c0010t0001g0293 a0001c0010t0001g0299 a0002c0009t0002g0265 a0002c0009t0002g0276 a0002c0009t0002g0277 a0002c0009t0002g0278 a0002c0009t0002g0292 a0003c0024t0001g0283	95	406	0.2340	c.156 others(3): Show c.156A>C	p.Ile others(5): Show p.Ile52Ile	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	2/32	388/5065	156/3648	52/1215	chr19	TogoVar
AP3M1_chr10_74115255_74155828	74124399	G G	T T	synonymous_variant synonymous_variant	LOW	HG00558.hp2 HG00597.hp2 HG01346.hp1 others(20): Show HG00558.hp2 HG00597.hp2 HG01346.hp1 HG02129.hp2 HG02165.hp1 NA18940.hp1 NA18941.hp1 NA18946.hp2 NA18949.hp2 NA18967.hp2 NA18969.hp2 NA18979.hp2 NA18981.hp2 NA18983.hp2 NA18991.hp1 NA18991.hp2 NA19055.hp1 NA19060.hp2 NA19062.hp2 NA19077.hp1 NA19086.hp1 NA19087.hp1 NA19088.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0004 a0001c0002t0002g0025 a0001c0002t0002g0132 others(15): Show a0001c0002t0002g0004 a0001c0002t0002g0025 a0001c0002t0002g0132 a0001c0002t0002g0137 a0001c0002t0002g0138 a0001c0002t0002g0146 a0001c0002t0002g0147 a0001c0002t0002g0172 a0001c0002t0002g0173 a0001c0002t0002g0174 a0001c0002t0002g0176 a0001c0002t0002g0177 a0001c0002t0002g0179 a0001c0002t0002g0181 a0001c0002t0002g0183 a0001c0002t0002g0184 a0001c0002t0002g0187 a0001c0002t0002g0193	23	334	0.0689	c.113 others(4): Show c.1137C>A	p.Ile others(6): Show p.Ile379Ile	AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding	8/9	1214/4889	1137/1257	379/418	chr10	TogoVar
AP3M1_chr10_74115255_74155828	74129221	A A	G G	synonymous_variant synonymous_variant	LOW	HG00639.hp2 HG01081.hp1 HG01243.hp2 others(12): Show HG00639.hp2 HG01081.hp1 HG01243.hp2 HG02258.hp2 HG02572.hp1 HG02622.hp1 HG02818.hp2 HG02896.hp2 HG02970.hp1 HG03041.hp1 HG03139.hp1 HG03516.hp1 NA18906.hp2 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0024 a0001c0003t0004 a0001c0003t0024	a0001c0003t0004g0007 a0001c0003t0004g0033 a0001c0003t0004g0195 others(8): Show a0001c0003t0004g0007 a0001c0003t0004g0033 a0001c0003t0004g0195 a0001c0003t0004g0196 a0001c0003t0004g0197 a0001c0003t0004g0198 a0001c0003t0004g0199 a0001c0003t0004g0200 a0001c0003t0004g0201 a0001c0003t0004g0202 a0001c0003t0024g0194	15	334	0.0449	c.690 others(3): Show c.690T>C	p.Asp others(6): Show p.Asp230Asp	AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding	6/9	767/4889	690/1257	230/418	chr10	TogoVar
AP3M1_chr10_74115255_74155828	74134133	G G	A A	synonymous_variant synonymous_variant	LOW	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0190 a0001c0006t0002g0190	1	334	0.0030	c.477 others(3): Show c.477C>T	p.Thr others(6): Show p.Thr159Thr	AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding	4/9	554/4889	477/1257	159/418	chr10	TogoVar
AP3M1_chr10_74115255_74155828	74136708	C C	T T	synonymous_variant synonymous_variant	LOW	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0006 a0001c0005t0006	a0001c0005t0006g0265 a0001c0005t0006g0265	1	334	0.0030	c.369 others(3): Show c.369G>A	p.Leu others(6): Show p.Leu123Leu	AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding	3/9	446/4889	369/1257	123/418	chr10	TogoVar
AP3M1_chr10_74115255_74155828	74138251	T T	C C	synonymous_variant synonymous_variant	LOW	NA20300.hp1 NA20300.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0022 a0001c0007t0022	a0001c0007t0022g0044 a0001c0007t0022g0044	1	334	0.0030	c.129 others(3): Show c.129A>G	p.Glu others(5): Show p.Glu43Glu	AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding	2/9	206/4889	129/1257	43/418	chr10	TogoVar
AP3M1_chr10_74115255_74155828	74138269	C C	T T	synonymous_variant synonymous_variant	LOW	NA18948.hp2 NA19004.hp2 NA19057.hp2 others(1): Show NA18948.hp2 NA19004.hp2 NA19057.hp2 NA19082.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0027 a0001c0004t0001 a0001c0004t0027	a0001c0004t0001g0022 a0001c0004t0001g0076 a0001c0004t0027g0077 a0001c0004t0001g0022 a0001c0004t0001g0076 a0001c0004t0027g0077	4	334	0.0120	c.111 others(3): Show c.111G>A	p.Glu others(5): Show p.Glu37Glu	AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding	2/9	188/4889	111/1257	37/418	chr10	TogoVar
AP3M1_chr10_74115255_74155828	74138347	G G	A A	synonymous_variant synonymous_variant	LOW	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0002 a0001c0008t0002	a0001c0008t0002g0152 a0001c0008t0002g0152	1	334	0.0030	c.33C others(2): Show c.33C>T	p.Ser others(5): Show p.Ser11Ser	AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding	2/9	110/4889	33/1257	11/418	chr10	TogoVar
AP3M2_chr8_42148063_42176183	42154717	C C	T T	synonymous_variant synonymous_variant	LOW	NA18948.hp2 NA18986.hp2 NA18948.hp2 NA18986.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0082 a0001c0003t0001g0003 a0001c0003t0001g0082	2	392	0.0051	c.30C others(2): Show c.30C>T	p.Ser others(5): Show p.Ser10Ser	AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding	2/9	145/3494	30/1257	10/418	chr8	TogoVar
AP3M2_chr8_42148063_42176183	42167260	G G	A A	synonymous_variant synonymous_variant	LOW	HG02132.hp2 NA18955.hp2 HG02132.hp2 NA18955.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0022 a0001c0002t0005g0022	2	392	0.0051	c.900 others(3): Show c.900G>A	p.Thr others(6): Show p.Thr300Thr	AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding	7/9	1015/3494	900/1257	300/418	chr8	TogoVar
AP3S2_chr15_89825599_89898994	89835620	C C	T T	synonymous_variant synonymous_variant	LOW	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0019 a0001c0003t0019	a0001c0003t0019g0287 a0001c0003t0019g0287	1	312	0.0032	c.477 others(3): Show c.477G>A	p.Ala others(6): Show p.Ala159Ala	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	6/6	522/5543	477/582	159/193	chr15	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)