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	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AP3B1_chr5_77997326_78299698	78165926	G G	GGCATGGT others(3): Show GGCATGGTGGT	intron_variant intron_variant	MODIFIER	NA18971.hp1 NA18971.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0135 a0001c0002t0002g0135	1	226	0.0044	10	c.116 others(27): Show c.1168-264_1168-255dupACCACCATGC	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	11/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78184686	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0005 a0001c0004t0001g0005	1	226	0.0044	10	c.787 others(27): Show c.787-3034_787-3025dupTTTTTTTTTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78189869	C C	CAAATAAA others(3): Show CAAATAAAATA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00558.hp2 HG01070.hp1 others(19): Show HG00280.hp1 HG00558.hp2 HG01070.hp1 HG01358.hp1 HG02071.hp1 HG02074.hp1 HG02698.hp1 HG03471.hp1 HG03516.hp1 HG03831.hp2 HG03834.hp2 HG04199.hp1 NA18947.hp1 NA18947.hp2 NA18972.hp2 NA18987.hp1 NA18990.hp2 NA19063.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp2 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0004 others(1): Show a0001c0001 a0001c0002 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0004t0002 a0002c0003t0001	a0001c0001t0001g0042 a0001c0001t0001g0098 a0001c0001t0001g0173 others(19): Show a0001c0001t0001g0042 a0001c0001t0001g0098 a0001c0001t0001g0173 a0001c0001t0001g0199 a0001c0001t0001g0216 a0001c0001t0002g0097 a0001c0002t0002g0150 a0001c0002t0002g0170 a0001c0002t0002g0172 a0001c0002t0002g0175 a0001c0004t0002g0085 a0002c0003t0001g0041 a0002c0003t0001g0054 a0002c0003t0001g0059 a0002c0003t0001g0062 a0002c0003t0001g0068 a0002c0003t0001g0070 a0002c0003t0001g0073 a0002c0003t0001g0080 a0002c0003t0001g0086 a0002c0003t0001g0100 a0002c0003t0001g0218	22	226	0.0974	10	c.787 others(27): Show c.787-8217_787-8208dupTATTTTATTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78191354	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03453.hp1 HG03130.hp2 HG03453.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0002 a0001c0004t0002g0226 a0001c0004t0002g0002 a0001c0004t0002g0226	2	226	0.0089	10	c.787 others(27): Show c.787-9702_787-9693dupTTTTTTTTTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(3): Show ATATATATTTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG03516.hp2 HG03540.hp1 HG02818.hp1 HG03516.hp2 HG03540.hp1	a0003 a0006 a0003 a0006	a0003c0007 a0006c0013 a0003c0007 a0006c0013	a0003c0007t0002 a0006c0013t0002 a0003c0007t0002 a0006c0013t0002	a0003c0007t0002g0141 a0003c0007t0002g0148 a0006c0013t0002g0193 a0003c0007t0002g0141 a0003c0007t0002g0148 a0006c0013t0002g0193	3	226	0.0133	10	c.787 others(29): Show c.787-12109_787-12108insAAAATATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78202551	C C	CAGTGTGT others(3): Show CAGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03130.hp2 NA19043.hp2 HG03130.hp2 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0004 a0003c0008 a0001c0004 a0003c0008	a0001c0004t0002 a0003c0008t0002 a0001c0004t0002 a0003c0008t0002	a0001c0004t0002g0226 a0003c0008t0002g0038 a0001c0004t0002g0226 a0003c0008t0002g0038	2	226	0.0089	10	c.786 others(29): Show c.786+13494_786+13503dupCACACACACT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78202552	A A	AGTGTGTG others(3): Show AGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00735.hp1 HG00741.hp2 others(11): Show HG00597.hp2 HG00735.hp1 HG00741.hp2 HG01361.hp2 HG01928.hp1 HG01952.hp1 HG01981.hp1 HG02015.hp2 HG02602.hp1 NA18978.hp2 NA18982.hp1 NA18992.hp1 NA20129.hp2 NA20905.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0001c0004 a0004c0017 a0001c0002 a0001c0004 a0004c0017	a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 others(1): Show a0001c0002t0001 a0001c0002t0002 a0001c0004t0002 a0004c0017t0002	a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 others(11): Show a0001c0002t0001g0181 a0001c0002t0001g0182 a0001c0002t0001g0183 a0001c0002t0001g0184 a0001c0002t0002g0064 a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0157 a0001c0002t0002g0164 a0001c0002t0002g0168 a0001c0002t0002g0171 a0001c0002t0002g0176 a0001c0004t0002g0006 a0004c0017t0002g0163	14	226	0.0620	10	c.786 others(29): Show c.786+13493_786+13502dupACACACACAC	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78229570	T T	TAAAAAAA others(3): Show TAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0004 a0001c0005t0002g0004	1	226	0.0044	10	c.280 others(27): Show c.280-1332_280-1331insTTTTTTTTTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	3/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78298993	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG01496.hp1 others(19): Show HG00408.hp1 HG00642.hp1 HG01496.hp1 HG01943.hp2 HG02071.hp2 HG02523.hp2 HG02735.hp2 HG03130.hp1 HG03516.hp2 HG03540.hp2 NA18747.hp1 NA18970.hp1 NA18970.hp2 NA18973.hp1 NA18978.hp1 NA18979.hp2 NA18992.hp2 NA18995.hp1 NA19002.hp1 NA19009.hp2 NA19057.hp2 NA19063.hp1	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0002 a0001c0004 others(4): Show a0001c0001 a0001c0002 a0001c0004 a0001c0010 a0001c0012 a0002c0003 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0004t0002 a0001c0010t0002 a0001c0012t0001 a0002c0003t0002 a0006c0013t0002	a0001c0001t0001g0032 a0001c0001t0001g0200 a0001c0001t0001g0209 others(19): Show a0001c0001t0001g0032 a0001c0001t0001g0200 a0001c0001t0001g0209 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0002g0011 a0001c0001t0002g0014 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0030 a0001c0002t0002g0156 a0001c0004t0002g0003 a0001c0010t0002g0024 a0001c0012t0001g0142 a0002c0003t0002g0031 a0006c0013t0002g0193	22	226	0.0974	10	c.-44 others(21): Show c.-4415_-4414insTTTTTTTTTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding		4296		chr5	TogoVar
AP3B2_chr15_82654281_82714875	82665376	A A	AACACACA others(3): Show AACACACACAC	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 NA19085.hp2 HG01069.hp2 HG01071.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0227 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0227	3	368	0.0082	10	c.197 others(25): Show c.1971+71_1972-74dupGTGTGTGTGT	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	16/26			chr15	TogoVar
AP3B2_chr15_82654281_82714875	82691024	G G	GTTGGTTC others(3): Show GTTGGTTCCAA	intron_variant intron_variant	MODIFIER	NA19001.hp1 NA19001.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	368	0.0027	10	c.114 others(27): Show c.114-1581_114-1572dupTTGGAACCAA	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	1/26			chr15	TogoVar
AP3D1_chr19_2095988_2156566	2101455	A A	ACCACACA others(3): Show ACCACACACGC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(156): 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 HG01243.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG01993.hp1 HG02040.hp2 HG02055.hp1 HG02074.hp2 HG02080.hp1 HG02083.hp2 HG02109.hp1 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02280.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02602.hp1 HG02622.hp1 HG02683.hp1 HG02698.hp2 HG02723.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02886.hp1 HG02896.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp1 HG03239.hp1 HG03453.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18747.hp2 NA18906.hp1 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 NA21309.hp1 NA21309.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0006	a0001c0001 a0001c0003 a0001c0004 others(13): Show a0001c0001 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0008 a0001c0011 a0001c0012 a0001c0014 a0001c0016 a0001c0020 a0001c0023 a0002c0007 a0002c0009 a0004c0013 a0006c0019	a0001c0001t0002 a0001c0003t0002 a0001c0003t0005 others(19): Show a0001c0001t0002 a0001c0003t0002 a0001c0003t0005 a0001c0003t0009 a0001c0004t0002 a0001c0004t0014 a0001c0005t0002 a0001c0006t0002 a0001c0006t0008 a0001c0006t0015 a0001c0008t0002 a0001c0008t0011 a0001c0011t0005 a0001c0012t0007 a0001c0014t0013 a0001c0016t0002 a0001c0020t0002 a0001c0023t0005 a0002c0007t0004 a0002c0009t0002 a0004c0013t0002 a0006c0019t0002	a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0015 others(156): Show a0001c0001t0002g0012 a0001c0001t0002g0013 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0064 a0001c0001t0002g0092 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0002g0205 a0001c0001t0002g0345 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 a0001c0016t0002g0097 a0001c0020t0002g0232 a0001c0023t0005g0059 a0002c0007t0004g0386 a0002c0007t0004g0387 a0002c0007t0004g0388 a0002c0007t0004g0389 a0002c0007t0004g0390 a0002c0007t0004g0391 a0002c0007t0004g0392 a0002c0007t0004g0393 a0002c0007t0004g0394 a0002c0007t0004g0395 a0002c0009t0002g0265 a0002c0009t0002g0276 a0002c0009t0002g0277 a0002c0009t0002g0278 a0002c0009t0002g0292 a0004c0013t0002g0245 a0006c0019t0002g0038	159	406	0.3916	10	c.71 others(19): Show c.717_*718insGCGTGTGTGG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	32/32	717		chr19	TogoVar
AP3M1_chr10_74115255_74155828	74137239	C C	CAAACAAA others(3): Show CAAACAAAACA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG00673.hp2 others(41): Show HG00423.hp2 HG00597.hp1 HG00673.hp2 HG01074.hp2 HG01109.hp1 HG01258.hp1 HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01515.hp1 HG01517.hp1 HG01884.hp1 HG01943.hp2 HG02004.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp2 HG02109.hp2 HG02129.hp1 HG02135.hp2 HG02165.hp2 HG02273.hp2 HG02698.hp2 HG02970.hp2 HG03041.hp2 HG03098.hp1 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03471.hp2 NA18612.hp1 NA18941.hp2 NA18944.hp1 NA18950.hp1 NA18973.hp2 NA18975.hp2 NA18980.hp2 NA18988.hp2 NA19004.hp1 NA19056.hp1 NA19085.hp2 NA19090.hp1 NA20129.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0003 a0001c0001t0014 a0001c0001t0021 others(2): Show a0001c0001t0003 a0001c0001t0014 a0001c0001t0021 a0001c0001t0023 a0001c0005t0006	a0001c0001t0003g0008 a0001c0001t0003g0011 a0001c0001t0003g0012 others(31): Show a0001c0001t0003g0008 a0001c0001t0003g0011 a0001c0001t0003g0012 a0001c0001t0003g0035 a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227 a0001c0001t0003g0228 a0001c0001t0003g0230 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0003g0234 a0001c0001t0003g0235 a0001c0001t0003g0236 a0001c0001t0003g0237 a0001c0001t0003g0239 a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 a0001c0001t0003g0243 a0001c0001t0003g0245 a0001c0001t0003g0246 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0014g0262 a0001c0001t0014g0263 a0001c0001t0021g0238 a0001c0001t0023g0232 a0001c0005t0006g0265	44	334	0.1317	10	c.274 others(25): Show c.274-446_274-437dupTGTTTTGTTT	AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding	2/8			chr10	TogoVar
AP3M2_chr8_42148063_42176183	42166591	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02622.hp2 HG02630.hp2 others(4): Show HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG03130.hp2 HG03209.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0030 a0001c0001t0004g0057 a0001c0001t0004g0058 others(2): Show a0001c0001t0004g0030 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0009g0028 a0001c0001t0009g0047	7	392	0.0179	10	c.804 others(25): Show c.804-563_804-554dupAAAAAAAAAA	AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
AP3S1_chr5_115836935_115919081	115839322	T T	TGCATGCA others(3): Show TGCATGCACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp1 HG01243.hp2 HG01884.hp2 others(37): Show HG01168.hp1 HG01243.hp2 HG01884.hp2 HG01891.hp1 HG02055.hp1 HG02257.hp1 HG02258.hp2 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp2 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp2 HG03139.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA18906.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0001 a0001c0001t0002 a0001c0001t0005	a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0030 others(36): Show a0001c0001t0001g0016 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0044 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0234 a0001c0001t0001g0258 a0001c0001t0001g0319 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0348 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0005g0096	40	378	0.1058	10	c.-27 others(21): Show c.-2716_-2715insGCATGCACAC	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding		2612		chr5	TogoVar
AP3S1_chr5_115836935_115919081	115868982	G G	GGAGGGAG others(3): Show GGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00735.hp1 others(8): Show HG00140.hp1 HG00639.hp1 HG00735.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01358.hp1 HG01891.hp1 HG02109.hp2 HG03139.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0008 a0001c0001t0001g0089 a0001c0001t0001g0091 others(7): Show a0001c0001t0001g0008 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0156 a0001c0001t0001g0191 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328	11	378	0.0291	10	c.162 others(27): Show c.162-1032_162-1031insGGAGGGAGAG	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
AP3S2_chr15_89825599_89898994	89835462	C C	CTTGCTTG others(3): Show CTTGCTTGTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp2 HG02630.hp2 NA18522.hp1 HG02257.hp2 HG02630.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0295 a0001c0001t0012g0296 a0001c0001t0012g0311 a0001c0001t0012g0295 a0001c0001t0012g0296 a0001c0001t0012g0311	3	312	0.0096	10	c.43 others(17): Show c.43_*52dupAGACAAGCAA	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	6/6	52		chr15	TogoVar
AP3S2_chr15_89825599_89898994	89843100	T T	TGAGAGAA others(3): Show TGAGAGAATCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00323.hp1 HG00408.hp1 others(123): Show HG00280.hp1 HG00323.hp1 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00621.hp2 HG00639.hp2 HG00733.hp1 HG01081.hp1 HG01099.hp1 HG01106.hp2 HG01109.hp2 HG01123.hp2 HG01167.hp1 HG01243.hp2 HG01255.hp1 HG01261.hp2 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01361.hp2 HG01496.hp1 HG01515.hp1 HG01928.hp1 HG01943.hp1 HG01943.hp2 HG01952.hp1 HG01952.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02040.hp2 HG02055.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02145.hp1 HG02155.hp1 HG02273.hp1 HG02280.hp2 HG02300.hp1 HG02300.hp2 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02717.hp1 HG02735.hp1 HG02809.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG02976.hp1 HG03041.hp2 HG03098.hp2 HG03225.hp1 HG03453.hp1 HG03471.hp2 HG03491.hp2 HG03579.hp2 HG03704.hp1 HG03834.hp1 HG03927.hp1 NA18612.hp1 NA18747.hp1 NA18747.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18950.hp1 NA18950.hp2 NA18954.hp1 NA18954.hp2 NA18959.hp1 NA18960.hp1 NA18961.hp2 NA18964.hp1 NA18966.hp1 NA18967.hp1 NA18968.hp2 NA18973.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA18990.hp1 NA18991.hp1 NA18995.hp1 NA19002.hp1 NA19004.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19030.hp2 NA19054.hp2 NA19056.hp1 NA19060.hp1 NA19060.hp2 NA19065.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19085.hp1 NA19086.hp1 NA19091.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(12): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0011 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0033 a0001c0001t0040 a0001c0001t0042	a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 others(123): Show a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0244 a0001c0001t0001g0282 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 a0001c0001t0002g0159 a0001c0001t0002g0177 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0183 a0001c0001t0002g0189 a0001c0001t0002g0190 a0001c0001t0002g0192 a0001c0001t0002g0193 a0001c0001t0002g0194 a0001c0001t0002g0195 a0001c0001t0002g0196 a0001c0001t0002g0197 a0001c0001t0002g0199 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0206 a0001c0001t0002g0208 a0001c0001t0002g0213 a0001c0001t0002g0214 a0001c0001t0002g0215 a0001c0001t0002g0216 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 a0001c0001t0002g0224 a0001c0001t0002g0235 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0243 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0252 a0001c0001t0002g0253 a0001c0001t0002g0254 a0001c0001t0002g0255 a0001c0001t0002g0259 a0001c0001t0002g0261 a0001c0001t0002g0262 a0001c0001t0002g0263 a0001c0001t0002g0264 a0001c0001t0002g0265 a0001c0001t0002g0266 a0001c0001t0002g0267 a0001c0001t0002g0268 a0001c0001t0002g0269 a0001c0001t0002g0270 a0001c0001t0002g0271 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0274 a0001c0001t0002g0276 a0001c0001t0002g0278 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0286 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0002g0292 a0001c0001t0002g0293 a0001c0001t0002g0297 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0004g0188 a0001c0001t0004g0242 a0001c0001t0004g0245 a0001c0001t0004g0247 a0001c0001t0004g0248 a0001c0001t0004g0251 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0260 a0001c0001t0004g0275 a0001c0001t0004g0281 a0001c0001t0004g0285 a0001c0001t0004g0290 a0001c0001t0006g0149 a0001c0001t0006g0205 a0001c0001t0006g0210 a0001c0001t0006g0223 a0001c0001t0006g0225 a0001c0001t0006g0231 a0001c0001t0006g0238 a0001c0001t0006g0283 a0001c0001t0006g0284 a0001c0001t0006g0288 a0001c0001t0011g0212 a0001c0001t0019g0229 a0001c0001t0020g0198 a0001c0001t0020g0200 a0001c0001t0021g0150 a0001c0001t0021g0236 a0001c0001t0029g0178 a0001c0001t0030g0055 a0001c0001t0031g0250 a0001c0001t0032g0234 a0001c0001t0033g0191 a0001c0001t0040g0237 a0001c0001t0042g0256	126	312	0.4039	10	c.346 others(27): Show c.346-5379_346-5378insGGATTCTCTC	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858485	A A	AAGAGAGA others(3): Show AAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	312	0.0032	10	c.345 others(29): Show c.345+12989_345+12990insCTCTCTCTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858489	A A	AAGAGAGA others(3): Show AAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03239.hp2 HG02258.hp1 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0017 a0001c0001t0003g0001 a0001c0001t0001g0017 a0001c0001t0003g0001	2	312	0.0064	10	c.345 others(29): Show c.345+12985_345+12986insCTCTCTCTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858523	G G	GAAAGAAA others(3): Show GAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01943.hp2 NA18991.hp2 HG01943.hp2 NA18991.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0047 a0001c0001t0002g0015 a0001c0001t0001g0047 a0001c0001t0002g0015	2	312	0.0064	10	c.345 others(29): Show c.345+12951_345+12952insTTCTTTCTTT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858523	G G	GAGAGAAA others(3): Show GAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG02976.hp2 NA18954.hp2 others(1): Show HG00558.hp1 HG02976.hp2 NA18954.hp2 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0026 a0001c0001t0030	a0001c0001t0001g0044 a0001c0001t0002g0056 a0001c0001t0026g0312 others(1): Show a0001c0001t0001g0044 a0001c0001t0002g0056 a0001c0001t0026g0312 a0001c0001t0030g0055	4	312	0.0128	10	c.345 others(29): Show c.345+12951_345+12952insTTCTTTCTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858523	G G	GAGAGAGA others(3): Show GAGAGAGAGAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01261.hp1 HG02723.hp2 HG00609.hp1 HG01261.hp1 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0007 a0001c0001t0015 a0001c0001t0003 a0001c0001t0007 a0001c0001t0015	a0001c0001t0003g0110 a0001c0001t0007g0085 a0001c0001t0015g0113 a0001c0001t0003g0110 a0001c0001t0007g0085 a0001c0001t0015g0113	3	312	0.0096	10	c.345 others(29): Show c.345+12951_345+12952insTTCTCTCTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89894969	C C	CATATATA others(3): Show CATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0010 a0001c0001t0014g0010	1	312	0.0032	10	c.-10 others(21): Show c.-1021_-1020insATATATATAT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding		976		chr15	TogoVar
AP4B1_chr1_113889194_113909799	113897142	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0065 a0001c0003t0001g0065	1	434	0.0023	10	c.130 others(27): Show c.1303-687_1303-678dupTTTTTTTTTT	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding	7/9			chr1	TogoVar
AP4B1_chr1_113889194_113909799	113907204	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01099.hp1 HG02622.hp1 HG02965.hp1 others(5): Show HG01099.hp1 HG02622.hp1 HG02965.hp1 HG02976.hp2 HG03139.hp1 HG04199.hp2 NA19043.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0003 a0002c0002t0002g0020 a0002c0002t0002g0056 others(2): Show a0002c0002t0002g0003 a0002c0002t0002g0020 a0002c0002t0002g0056 a0002c0002t0002g0057 a0002c0002t0003g0005	8	434	0.0184	10	c.-24 others(21): Show c.-2497_-2488dupAAAAAAAAAA	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding		2406		chr1	TogoVar
AP4B1_chr1_113889194_113909799	113907209	T T	TTTTTTTT others(3): Show TTTTTTTTTTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0005 a0002c0002t0003g0005	1	434	0.0023	10	c.-24 others(21): Show c.-2493_-2492insCAAAAAAAAA	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding		2411		chr1	TogoVar
AP4E1_chr15_50903683_51010895	50962017	A A	AAATACAA others(3): Show AAATACAATAC	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01167.hp1 HG01167.hp2 others(17): Show HG00621.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01255.hp2 HG01891.hp2 HG02615.hp1 HG02818.hp1 HG02922.hp1 HG03490.hp1 HG03710.hp1 HG03942.hp1 HG06807.hp1 HG06807.hp2 NA18948.hp1 NA18979.hp1 NA18992.hp1 NA19070.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0002 a0002c0003t0003 a0002c0003t0006 others(4): Show a0002c0002t0002 a0002c0003t0003 a0002c0003t0006 a0002c0003t0010 a0002c0003t0014 a0002c0003t0020 a0002c0003t0022	a0002c0002t0002g0015 a0002c0002t0002g0061 a0002c0002t0002g0088 others(17): Show a0002c0002t0002g0015 a0002c0002t0002g0061 a0002c0002t0002g0088 a0002c0002t0002g0090 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0028 a0002c0003t0003g0031 a0002c0003t0006g0186 a0002c0003t0006g0187 a0002c0003t0006g0190 a0002c0003t0006g0191 a0002c0003t0010g0032 a0002c0003t0010g0033 a0002c0003t0010g0034 a0002c0003t0014g0017 a0002c0003t0014g0018 a0002c0003t0020g0008 a0002c0003t0022g0007	20	392	0.0510	10	c.185 others(29): Show c.1851+3239_1851+3248dupAATACAATAC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50962889	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG03453.hp1 NA18522.hp2 others(1): Show HG02630.hp1 HG03453.hp1 NA18522.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0350 a0001c0001t0004g0351 a0001c0001t0004g0356 others(1): Show a0001c0001t0004g0350 a0001c0001t0004g0351 a0001c0001t0004g0356 a0001c0001t0004g0360	4	392	0.0102	10	c.185 others(29): Show c.1851+4113_1851+4122dupAAAAAAAAAA	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50964955	C C	CCACACAC others(3): Show CCACACACACA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG01106.hp1 others(9): Show HG00099.hp1 HG00323.hp1 HG01106.hp1 HG01255.hp1 HG02145.hp1 HG02647.hp1 HG02717.hp2 HG02976.hp1 HG03139.hp2 HG03486.hp1 HG03540.hp2 NA19012.hp2	a0001 a0002 a0008 a0001 a0002 a0008	a0001c0001 a0002c0002 a0008c0013 a0001c0001 a0002c0002 a0008c0013	a0001c0001t0004 a0001c0001t0005 a0002c0002t0016 others(1): Show a0001c0001t0004 a0001c0001t0005 a0002c0002t0016 a0008c0013t0005	a0001c0001t0004g0349 a0001c0001t0004g0352 a0001c0001t0004g0357 others(9): Show a0001c0001t0004g0349 a0001c0001t0004g0352 a0001c0001t0004g0357 a0001c0001t0004g0362 a0001c0001t0004g0363 a0001c0001t0004g0382 a0001c0001t0004g0383 a0001c0001t0004g0386 a0001c0001t0005g0321 a0001c0001t0005g0322 a0002c0002t0016g0068 a0008c0013t0005g0329	12	392	0.0306	10	c.185 others(29): Show c.1852-3280_1852-3271dupACACACACAC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50977706	G G	GTTTTTTT others(3): Show GTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0307 a0001c0001t0003g0307	1	392	0.0026	10	c.196 others(29): Show c.1967-6305_1967-6296dupTTTTTTTTTT	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4M1_chr7_100096643_100114039	100099418	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	416	0.0024	10	c.-22 others(21): Show c.-2297_-2296insAAAAAAAAAA	AP4M1	ENSG00000221838.11	transcript	ENST00000359593.9	protein_coding		2224		chr7	TogoVar
AP4S1_chr14_31020649_31101450	31049428	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	346	0.0029	10	c.-71 others(29): Show c.-71-16673_-71-16664dupATATATATAT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31049474	T T	TACACACA others(3): Show TACACACACAC	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02647.hp1 HG03195.hp1 HG02129.hp2 HG02647.hp1 HG03195.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0001 a0001c0001t0006	a0001c0001t0001g0292 a0001c0001t0006g0327 a0001c0001t0006g0328 a0001c0001t0001g0292 a0001c0001t0006g0327 a0001c0001t0006g0328	3	346	0.0087	10	c.-71 others(29): Show c.-71-16626_-71-16617dupCACACACACA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31058517	C C	CTGTGTGT others(3): Show CTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04204.hp1 NA18968.hp2 HG04204.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0340 a0001c0001t0004g0043 a0001c0001t0001g0340 a0001c0001t0004g0043	2	346	0.0058	10	c.-71 others(27): Show c.-71-7600_-71-7599insGTGTGTGTGT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31065546	A A	AATGAATG others(3): Show AATGAATGAGT	intron_variant intron_variant	MODIFIER	NA18987.hp1 NA18987.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0280 a0001c0001t0001g0280	1	346	0.0029	10	c.-71 others(25): Show c.-71-578_-71-569dupTGAATGAGTA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31096676	C C	CATATATA others(3): Show CATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00323.hp2 HG00741.hp1 HG01074.hp1 others(16): Show HG00323.hp2 HG00741.hp1 HG01074.hp1 HG01106.hp2 HG01256.hp1 HG01258.hp1 HG01361.hp1 HG01433.hp2 HG02145.hp1 HG02572.hp2 HG02683.hp1 HG02723.hp2 HG03209.hp1 HG03225.hp2 HG03579.hp2 HG03669.hp2 HG03927.hp2 HG04204.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 others(2): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0007 a0001c0001t0014 a0001c0001t0032	a0001c0001t0003g0002 a0001c0001t0003g0145 a0001c0001t0003g0146 others(15): Show a0001c0001t0003g0002 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0156 a0001c0001t0003g0245 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0007g0157 a0001c0001t0007g0161 a0001c0001t0007g0267 a0001c0001t0007g0268 a0001c0001t0007g0269 a0001c0001t0014g0158 a0001c0001t0014g0159 a0001c0001t0014g0160 a0001c0001t0032g0250	19	346	0.0549	10	c.36 others(21): Show c.3641_*3642insATATATATAT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding		227		chr14	TogoVar
AP5M1_chr14_57263971_57303742	57300718	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0006 a0001c0002t0003g0006	1	280	0.0036	10	c.11 others(23): Show c.11834_*11835insTTTTTTTTTT	AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding		1977		chr14	TogoVar
AP5S1_chr20_3815547_3833838	3831665	G G	GTATATAT others(3): Show GTATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	1	412	0.0024	10	c.73 others(21): Show c.7368_*7369insTATATATATA	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2828		chr20	TogoVar
AP5S1_chr20_3815547_3833838	3831665	G G	GTGTGTAT others(3): Show GTGTGTATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03017.hp2 NA18990.hp1 NA18992.hp2 others(1): Show HG03017.hp2 NA18990.hp1 NA18992.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0062 a0001c0001t0002 a0001c0001t0062	a0001c0001t0002g0002 a0001c0001t0062g0002 a0001c0001t0002g0002 a0001c0001t0062g0002	4	412	0.0097	10	c.73 others(21): Show c.7368_*7369insTGTGTATATA	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2828		chr20	TogoVar
AP5S1_chr20_3815547_3833838	3831679	A A	ATATATAT others(3): Show ATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02572.hp1 HG02922.hp2 HG02572.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0003 a0001c0001t0004g0003	2	412	0.0049	10	c.73 others(21): Show c.7382_*7383insTATATATATT	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2842		chr20	TogoVar
AP5S1_chr20_3815547_3833838	3831679	A A	ATTTTTTT others(3): Show ATTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02738.hp1 HG03579.hp2 HG03927.hp1 others(5): Show HG02738.hp1 HG03579.hp2 HG03927.hp1 NA18942.hp2 NA18949.hp2 NA18983.hp2 NA18992.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 others(3): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0017 a0001c0001t0023 a0001c0001t0036	a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0004g0002 others(4): Show a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0004g0002 a0001c0001t0006g0006 a0001c0001t0017g0002 a0001c0001t0023g0002 a0001c0001t0036g0002	8	412	0.0194	10	c.73 others(21): Show c.7382_*7383insTTTTTTTTTT	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2842		chr20	TogoVar
AP5S1_chr20_3815547_3833838	3832236	C C	CAAAAAAA others(3): Show CAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp2 others(70): Show HG00099.hp1 HG00099.hp2 HG00140.hp2 HG00544.hp2 HG00642.hp2 HG00733.hp1 HG00735.hp1 HG00738.hp2 HG01070.hp2 HG01071.hp1 HG01099.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01496.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02258.hp2 HG02293.hp1 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp1 HG02572.hp1 HG02615.hp1 HG02615.hp2 HG02647.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02895.hp1 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02976.hp2 HG03098.hp1 HG03130.hp1 HG03139.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp1 HG03579.hp1 HG03654.hp2 NA18522.hp2 NA18906.hp2 NA18939.hp2 NA18951.hp1 NA18971.hp2 NA18975.hp1 NA18982.hp2 NA18984.hp2 NA18989.hp1 NA19011.hp2 NA19060.hp2 NA19079.hp2 NA19087.hp1 NA19240.hp2 NA20129.hp2 NA20752.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(17): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0001t0013 a0001c0001t0014 a0001c0001t0019 a0001c0001t0020 a0001c0001t0031 a0001c0001t0035 a0001c0001t0037 a0001c0001t0040 a0001c0001t0052 a0001c0001t0053 a0001c0001t0055 a0001c0001t0058	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0004g0003 others(22): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0004g0003 a0001c0001t0004g0013 a0001c0001t0005g0003 a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0034 a0001c0001t0007g0001 a0001c0001t0008g0003 a0001c0001t0011g0002 a0001c0001t0013g0012 a0001c0001t0014g0003 a0001c0001t0019g0015 a0001c0001t0020g0003 a0001c0001t0031g0015 a0001c0001t0035g0003 a0001c0001t0037g0028 a0001c0001t0040g0003 a0001c0001t0052g0001 a0001c0001t0053g0003 a0001c0001t0055g0005 a0001c0001t0058g0005	73	412	0.1772	10	c.79 others(21): Show c.7939_*7940insAAAAAAAAAA	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		3399		chr20	TogoVar
AP5Z1_chr7_4770623_4799397	4790354	C C	CACCTACC others(3): Show CACCTACCACT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01081.hp2 HG01361.hp2 others(1): Show HG01074.hp2 HG01081.hp2 HG01361.hp2 HG03491.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0012 a0004c0007t0012	a0004c0007t0012g0015 a0004c0007t0012g0067 a0004c0007t0012g0015 a0004c0007t0012g0067	4	340	0.0118	10	c.180 others(26): Show c.1806-104_1806-95dupACCTACCACT	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
APAF1_chr12_98640290_98740433	98640441	T T	TCAAAACA others(3): Show TCAAAACAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0007 a0001c0004t0007	a0001c0004t0007g0225 a0001c0004t0007g0225	1	366	0.0027	10	c.-54 others(21): Show c.-5436_-5435insCAAAACAAAA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding		4848		chr12	TogoVar
APAF1_chr12_98640290_98740433	98653685	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02523.hp1 HG02280.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0026 a0001c0001t0005g0095 a0001c0001t0001g0026 a0001c0001t0005g0095	2	366	0.0055	10	c.526 others(27): Show c.526+4002_526+4003insTATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653687	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG01169.hp2 HG01169.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	366	0.0027	10	c.526 others(27): Show c.526+4004_526+4005insTATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653689	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0071 a0001c0001t0016g0071	1	366	0.0027	10	c.526 others(27): Show c.526+4006_526+4007insTATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653691	A A	AAAATATA others(3): Show AAAATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0035	1	366	0.0027	10	c.526 others(27): Show c.526+4008_526+4009insAATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653691	A A	AATATATA others(3): Show AATATATATAT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0044 a0001c0001t0001g0044	1	366	0.0027	10	c.526 others(27): Show c.526+4031_526+4040dupTATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar

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