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
AP1M1_chr19_16192911_16250906	16250278	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02273.hp1 HG02273.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0074	1	308	0.0033	-14	c.15 others(27): Show c.15844_*15857delTGTGTGTGTGTGTA	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding		4373		chr19	TogoVar
AP1M2_chr19_10567671_10592312	10585313	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	A A	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0322 a0001c0001t0001g0322	1	394	0.0025	-14	c.43- others(29): Show c.43-1257_43-1244delCTTTCTTTCTTTCT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/11			chr19	TogoVar
AP1S3_chr2_223750326_223842582	223780300	TATATATA others(7): Show TATATATATAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02451.hp2 NA19082.hp1 HG02451.hp2 NA19082.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0026 a0001c0001t0007g0337 a0001c0001t0006g0026 a0001c0001t0007g0337	2	340	0.0059	-14	c.4-2 others(27): Show c.4-2445_4-2432delCTCTCTATATATAT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223780302	TATATATA others(7): Show TATATATAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0023 a0001c0001t0006g0023	1	340	0.0029	-14	c.4-2 others(27): Show c.4-2447_4-2434delCTCTCTCTATATAT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223780304	TATATAGA others(7): Show TATATAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02071.hp2 HG02723.hp1 HG03688.hp2 others(1): Show HG02071.hp2 HG02723.hp1 HG03688.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0054	a0001c0001t0001g0070 a0001c0001t0003g0270 a0001c0001t0006g0251 others(1): Show a0001c0001t0001g0070 a0001c0001t0003g0270 a0001c0001t0006g0251 a0001c0001t0054g0005	4	340	0.0118	-14	c.4-2 others(27): Show c.4-2449_4-2436delCTCTCTCTCTATAT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223780306	TATAGAGA others(7): Show TATAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0015 a0001c0001t0014g0015	1	340	0.0029	-14	c.4-2 others(27): Show c.4-2451_4-2438delCTCTCTCTCTCTAT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223780308	TAGAGAGA others(7): Show TAGAGAGAGAGAGAG	T T	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02630.hp1 HG02818.hp1 others(3): Show HG02257.hp1 HG02630.hp1 HG02818.hp1 HG03041.hp1 HG03130.hp1 HG03225.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0009 a0002c0002t0002 a0001c0001t0009 a0002c0002t0002	a0001c0001t0009g0040 a0001c0001t0009g0166 a0001c0001t0009g0167 others(3): Show a0001c0001t0009g0040 a0001c0001t0009g0166 a0001c0001t0009g0167 a0001c0001t0009g0168 a0001c0001t0009g0169 a0002c0002t0002g0171	6	340	0.0177	-14	c.4-2 others(27): Show c.4-2453_4-2440delCTCTCTCTCTCTCT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223780345	AGAGAGAG others(7): Show AGAGAGAGAGAGAGT	A A	intron_variant intron_variant	MODIFIER	NA19084.hp2 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0072 a0001c0001t0006g0072	1	340	0.0029	-14	c.4-2 others(27): Show c.4-2490_4-2477delACTCTCTCTCTCTC	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223780353	AGAGAGTG others(7): Show AGAGAGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0060 a0001c0001t0060	a0001c0001t0060g0190 a0001c0001t0060g0190	1	340	0.0029	-14	c.4-2 others(27): Show c.4-2498_4-2485delACACACACACTCTC	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223799208	GACACACA others(7): Show GACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG03209.hp2 HG03486.hp2 others(1): Show HG02630.hp2 HG03209.hp2 HG03486.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0309 a0001c0001t0002g0310 a0002c0002t0002g0291 others(1): Show a0001c0001t0002g0309 a0001c0001t0002g0310 a0002c0002t0002g0291 a0002c0002t0002g0292	4	340	0.0118	-14	c.4-2 others(29): Show c.4-21353_4-21340delGTGTGTGTGTGTGT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223832131	CTCTCTGT others(7): Show CTCTCTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00735.hp2 HG00738.hp1 others(41): Show HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01261.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG02165.hp1 HG02622.hp2 HG02698.hp1 HG03195.hp1 HG03491.hp1 HG03492.hp1 HG03831.hp2 NA18950.hp1 NA18957.hp1 NA18963.hp2 NA18975.hp1 NA18980.hp1 NA18981.hp1 NA18982.hp1 NA18983.hp2 NA18991.hp1 NA19007.hp2 NA19054.hp1 NA19057.hp2 NA19086.hp2 NA19087.hp1 NA19089.hp2 NA19240.hp2 NA20300.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(16): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0018 a0001c0001t0022 a0001c0001t0028 a0001c0001t0029 a0001c0001t0037 a0001c0001t0042 a0001c0001t0044 a0001c0001t0057 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0066 a0001c0003t0034	a0001c0001t0001g0001 a0001c0001t0001g0119 a0001c0001t0001g0121 others(40): Show a0001c0001t0001g0001 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0004g0108 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0124 a0001c0001t0004g0141 a0001c0001t0004g0146 a0001c0001t0004g0155 a0001c0001t0004g0157 a0001c0001t0006g0103 a0001c0001t0007g0158 a0001c0001t0007g0159 a0001c0001t0012g0106 a0001c0001t0013g0142 a0001c0001t0013g0143 a0001c0001t0013g0165 a0001c0001t0018g0104 a0001c0001t0018g0149 a0001c0001t0022g0101 a0001c0001t0028g0117 a0001c0001t0029g0123 a0001c0001t0037g0105 a0001c0001t0042g0152 a0001c0001t0044g0150 a0001c0001t0057g0118 a0001c0001t0061g0120 a0001c0001t0062g0102 a0001c0001t0063g0145 a0001c0001t0066g0161 a0001c0003t0034g0164	44	340	0.1294	-14	c.3+5 others(27): Show c.3+5303_3+5316delCACACACACAGAGA	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP2A1_chr19_49762001_49812114	49787333	TGTTTGTT others(7): Show TGTTTGTTTTTTTTG	T T	intron_variant intron_variant	MODIFIER	HG02083.hp2 NA18990.hp2 NA18994.hp1 others(1): Show HG02083.hp2 NA18990.hp2 NA18994.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0002 a0001c0009t0001 a0001c0001t0001 a0001c0001t0002 a0001c0009t0001	a0001c0001t0001g0191 a0001c0001t0002g0029 a0001c0001t0002g0036 others(1): Show a0001c0001t0001g0191 a0001c0001t0002g0029 a0001c0001t0002g0036 a0001c0009t0001g0267	4	342	0.0117	-14	c.474 others(31): Show c.474-4601_474-4588delGTTTGTTTTTTTTG	AP2A1	ENSG00000196961.13	transcript	ENST00000354293.10	protein_coding	4/22			chr19	TogoVar
AP2A2_chr11_920870_1017240	986105	TGGGTCTT others(7): Show TGGGTCTTGCGTGTG	T T	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	268	0.0037	-14	c.962 others(29): Show c.962+527_962+540delTCTTGCGTGTGGGG	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	8/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2B1_chr17_35582322_35731413	35583115	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 HG03942.hp2 NA19081.hp2 HG00741.hp2 HG03942.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0002t0011 a0001c0001t0005 a0001c0002t0011	a0001c0001t0005g0147 a0001c0001t0005g0155 a0001c0002t0011g0192 a0001c0001t0005g0147 a0001c0001t0005g0155 a0001c0002t0011g0192	3	372	0.0081	-14	c.-43 others(25): Show c.-4336_-4323delTTTTTTTTTTTTTT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding		4206		chr17	TogoVar
AP2B1_chr17_35582322_35731413	35583514	TTCTCTCT others(7): Show TTCTCTCTCTCTCTC	T T	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0111 a0001c0001t0002g0111	1	372	0.0027	-14	c.-39 others(25): Show c.-3937_-3924delTCTCTCTCTCTCTC	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding		3807		chr17	TogoVar
AP2B1_chr17_35582322_35731413	35616142	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG02622.hp1 HG02886.hp1 others(8): Show HG00140.hp1 HG02622.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp2 HG03139.hp1 HG03453.hp1 HG03927.hp1 NA18906.hp2 NA18946.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007	a0001c0001t0002g0053 a0001c0001t0002g0170 a0001c0001t0002g0172 others(8): Show a0001c0001t0002g0053 a0001c0001t0002g0170 a0001c0001t0002g0172 a0001c0001t0002g0357 a0001c0001t0002g0358 a0001c0001t0002g0359 a0001c0001t0002g0360 a0001c0001t0002g0361 a0001c0001t0002g0362 a0001c0001t0003g0010 a0001c0001t0007g0005	11	372	0.0296	-14	c.525 others(31): Show c.525+7781_525+7794delTTTTTTTTTTTTTT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	5/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35648743	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	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	-14	c.153 others(33): Show c.1537-1769_1537-1756delTGTGTGTGTGTGTG	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35682334	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	C C	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01361.hp1 HG02723.hp1 others(1): Show HG01109.hp2 HG01361.hp1 HG02723.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(1): Show a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0015g0129	4	372	0.0108	-14	c.232 others(31): Show c.2325-349_2325-336delTTTTTTTTTTTTTT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	17/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35691721	AAAAATAT others(7): Show AAAAATATTCCACCT	A A	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01361.hp1 HG02723.hp1 others(1): Show HG01109.hp2 HG01361.hp1 HG02723.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0015 a0001c0001t0001 a0001c0001t0015	a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 others(1): Show a0001c0001t0001g0126 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0015g0129	4	372	0.0108	-14	c.245 others(33): Show c.2454+8909_2454+8922delCCTAAAATATTCCA	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	18/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35718312	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	C C	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01168.hp2 HG01169.hp2 others(4): Show HG01106.hp1 HG01168.hp2 HG01169.hp2 HG01192.hp1 HG02622.hp1 HG02895.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0007 a0001c0002t0001 a0001c0001t0007 a0001c0002t0001	a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0007g0158 others(4): Show a0001c0001t0007g0004 a0001c0001t0007g0005 a0001c0001t0007g0158 a0001c0001t0007g0348 a0001c0001t0007g0350 a0001c0001t0007g0351 a0001c0002t0001g0241	7	372	0.0188	-14	c.278 others(32): Show c.2781+996_2781+1009delTGTGTGTGTGTGTG	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720565	ATATATAT others(7): Show ATATATATATTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01070.hp2 HG01123.hp1 others(6): Show HG01069.hp1 HG01070.hp2 HG01123.hp1 HG01192.hp2 HG01257.hp1 HG01952.hp2 HG01993.hp1 HG03540.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0009 a0001c0001t0006 a0001c0001t0009	a0001c0001t0006g0066 a0001c0001t0006g0067 a0001c0001t0006g0069 others(6): Show a0001c0001t0006g0066 a0001c0001t0006g0067 a0001c0001t0006g0069 a0001c0001t0006g0070 a0001c0001t0006g0085 a0001c0001t0006g0184 a0001c0001t0006g0185 a0001c0001t0006g0317 a0001c0001t0009g0161	9	372	0.0242	-14	c.278 others(33): Show c.2782-3058_2782-3045delATATATATTTTTTT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720567	ATATATAT others(7): Show ATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00544.hp1 HG02040.hp2 others(16): Show HG00323.hp1 HG00544.hp1 HG02040.hp2 HG03704.hp1 NA18943.hp2 NA18944.hp1 NA18948.hp2 NA18949.hp1 NA18953.hp1 NA18955.hp1 NA18956.hp2 NA18975.hp1 NA18987.hp1 NA18994.hp1 NA19000.hp2 NA19002.hp2 NA19012.hp2 NA19079.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0019 a0001c0001t0002 a0001c0001t0019	a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0087 others(16): Show a0001c0001t0002g0064 a0001c0001t0002g0065 a0001c0001t0002g0087 a0001c0001t0002g0088 a0001c0001t0002g0090 a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0002g0096 a0001c0001t0002g0099 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0105 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0120 a0001c0001t0019g0089	19	372	0.0511	-14	c.278 others(33): Show c.2782-3056_2782-3043delATATATTTTTTTTT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720569	ATATATTT others(7): Show ATATATTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00597.hp2 HG01934.hp1 others(2): Show HG00438.hp2 HG00597.hp2 HG01934.hp1 HG01978.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0002 a0001c0001t0006	a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0102 others(2): Show a0001c0001t0002g0073 a0001c0001t0002g0075 a0001c0001t0002g0102 a0001c0001t0006g0071 a0001c0001t0006g0072	5	372	0.0134	-14	c.278 others(33): Show c.2782-3054_2782-3041delATATTTTTTTTTTT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2M1_chr3_184169855_184189091	184174585	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18961.hp1 NA19084.hp2 NA18961.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	2	422	0.0047	-14	c.-41 others(23): Show c.-417_-404delAAAAAAAAAAAAAA	AP2M1	ENSG00000161203.14	transcript	ENST00000292807.9	protein_coding		269		chr3	TogoVar
AP2S1_chr19_46833167_46855846	46839286	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG00642.hp1 others(35): Show HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00735.hp2 HG01106.hp1 HG01106.hp2 HG01169.hp2 HG01175.hp1 HG01255.hp2 HG01346.hp2 HG01358.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01516.hp1 HG01517.hp1 HG01517.hp2 HG01884.hp2 HG02109.hp2 HG02257.hp1 HG02559.hp2 HG02572.hp1 HG02683.hp2 HG02717.hp2 HG02809.hp2 HG02818.hp2 HG02976.hp2 HG03239.hp2 HG03453.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03704.hp1 NA18991.hp2 NA19070.hp2 NA20129.hp2 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0032 others(28): Show a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0032 a0001c0001t0002g0045 a0001c0001t0002g0046 a0001c0001t0002g0062 a0001c0001t0002g0103 a0001c0001t0002g0119 a0001c0001t0002g0133 a0001c0001t0002g0134 a0001c0001t0002g0137 a0001c0001t0002g0207 a0001c0001t0002g0217 a0001c0001t0002g0218 a0001c0001t0002g0221 a0001c0001t0002g0222 a0001c0001t0002g0247 a0001c0001t0002g0248 a0001c0001t0002g0251 a0001c0001t0002g0256 a0001c0001t0002g0260 a0001c0001t0002g0262 a0001c0001t0002g0265 a0001c0001t0002g0275 a0001c0001t0002g0280 a0001c0001t0002g0293 a0001c0001t0002g0298 a0001c0001t0002g0299 a0001c0001t0002g0310 a0001c0001t0002g0317 a0001c0001t0002g0318	38	424	0.0896	-14	c.267 others(29): Show c.267+165_267+178delTTTTTTTTTTTTTT	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding	3/4			chr19	TogoVar
AP3B1_chr5_77997326_78299698	78055016	GACACACA others(7): Show GACACACACACACAC	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG03130.hp2 HG03471.hp1 others(1): Show HG02809.hp2 HG03130.hp2 HG03471.hp1 NA20905.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0002 a0001c0004t0002 a0001c0002t0002 a0001c0004t0002	a0001c0002t0002g0152 a0001c0004t0002g0007 a0001c0004t0002g0085 others(1): Show a0001c0002t0002g0152 a0001c0004t0002g0007 a0001c0004t0002g0085 a0001c0004t0002g0226	4	226	0.0177	-14	c.257 others(35): Show c.2578-15756_2578-15743delGTGTGTGTGTGTGT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	22/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78081300	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01884.hp2 HG02723.hp2 others(10): Show HG01496.hp1 HG01884.hp2 HG02723.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG03130.hp1 HG03139.hp1 HG03540.hp1 NA18522.hp2 NA18906.hp2 NA19030.hp1 NA19043.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0012 a0003c0007 others(1): Show a0001c0001 a0001c0012 a0003c0007 a0003c0008	a0001c0001t0001 a0001c0001t0002 a0001c0012t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0012t0001 a0003c0007t0002 a0003c0008t0002	a0001c0001t0001g0076 a0001c0001t0002g0011 a0001c0012t0001g0142 others(10): Show a0001c0001t0001g0076 a0001c0001t0002g0011 a0001c0012t0001g0142 a0003c0007t0002g0072 a0003c0007t0002g0079 a0003c0007t0002g0081 a0003c0007t0002g0140 a0003c0007t0002g0141 a0003c0007t0002g0148 a0003c0008t0002g0035 a0003c0008t0002g0036 a0003c0008t0002g0038 a0003c0008t0002g0039	13	226	0.0575	-14	c.257 others(33): Show c.2577+8079_2577+8092delAAAAAAAAAAAAAA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	22/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78084521	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	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	-14	c.257 others(33): Show c.2577+4858_2577+4871delTTTTTTTTTTTTTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	22/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78166117	TCACACAC others(7): Show TCACACACACACACA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00639.hp2 others(32): Show HG00099.hp1 HG00099.hp2 HG00639.hp2 HG00642.hp1 HG01070.hp2 HG01106.hp2 HG01175.hp2 HG01256.hp1 HG01346.hp2 HG02055.hp1 HG02135.hp2 HG02258.hp1 HG02280.hp2 HG02451.hp2 HG02630.hp1 HG02683.hp1 HG02698.hp2 HG02735.hp2 HG02818.hp2 HG03139.hp2 HG03195.hp1 HG03453.hp2 HG03471.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp2 HG04228.hp2 HG06807.hp2 NA18956.hp1 NA18970.hp2 NA18979.hp2 NA19074.hp2 NA20129.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0004 a0001c0006 others(2): Show a0001c0001 a0001c0004 a0001c0006 a0002c0003 a0003c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0004t0001 a0001c0004t0002 a0001c0006t0001 a0002c0003t0001 a0003c0009t0002	a0001c0001t0001g0037 a0001c0001t0001g0076 a0001c0001t0001g0083 others(32): Show a0001c0001t0001g0037 a0001c0001t0001g0076 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0173 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0004g0129 a0001c0004t0001g0077 a0001c0004t0002g0003 a0001c0006t0001g0040 a0001c0006t0001g0120 a0001c0006t0001g0124 a0001c0006t0001g0125 a0002c0003t0001g0061 a0002c0003t0001g0073 a0002c0003t0001g0090 a0003c0009t0002g0074	35	226	0.1549	-14	c.116 others(31): Show c.1168-459_1168-446delTGTGTGTGTGTGTG	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	11/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193732	GTATATAT others(7): Show GTATATATTTTTTTA	G G	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0007 a0001c0004t0002g0007	1	226	0.0044	-14	c.787 others(33): Show c.787-12084_787-12071delTAAAAAAATATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78202552	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	A A	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02055.hp2 HG02280.hp1 others(6): Show HG01168.hp1 HG02055.hp2 HG02280.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(6): Show a0001c0005t0001g0195 a0001c0005t0002g0004 a0001c0005t0002g0187 a0001c0005t0002g0188 a0001c0005t0002g0189 a0001c0005t0002g0190 a0001c0005t0002g0191 a0001c0005t0002g0194 a0006c0013t0002g0193	9	226	0.0398	-14	c.786 others(33): Show c.786+13489_786+13502delACACACACACACAC	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B2_chr15_82654281_82714875	82665376	AACACACA others(7): Show AACACACACACACAC	A A	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0308 a0001c0001t0001g0308	1	368	0.0027	-14	c.197 others(29): Show c.1971+67_1972-74delGTGTGTGTGTGTGT	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	16/26			chr15	TogoVar
AP3D1_chr19_2095988_2156566	2103817	CAGACCCC others(7): Show CAGACCCCAGTGCCA	C C	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0063 a0001c0001t0002g0063	1	406	0.0025	-14	c.355 others(33): Show c.3553-1563_3553-1550delTGGCACTGGGGTCT	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	31/31			chr19	TogoVar
AP3D1_chr19_2095988_2156566	2104156	TCAGACTC others(7): Show TCAGACTCCAACACC	T T	intron_variant intron_variant	MODIFIER	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	-14	c.355 others(33): Show c.3553-1902_3553-1889delGGTGTTGGAGTCTG	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	31/31			chr19	TogoVar
AP3M1_chr10_74115255_74155828	74149267	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	334	0.0030	-14	c.-4+ others(29): Show c.-4+1474_-4+1487delAAAAAAAAAAAAAA	AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding	1/8			chr10	TogoVar
AP3M2_chr8_42148063_42176183	42162943	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00621.hp2 others(51): Show HG00408.hp2 HG00438.hp1 HG00621.hp2 HG00673.hp2 HG00735.hp2 HG00738.hp2 HG01070.hp2 HG01071.hp2 HG01081.hp1 HG01257.hp1 HG01258.hp2 HG01358.hp2 HG01515.hp1 HG01517.hp1 HG01975.hp1 HG01981.hp2 HG02015.hp2 HG02027.hp2 HG02040.hp1 HG02056.hp2 HG02083.hp2 HG02165.hp1 HG02280.hp2 HG02523.hp1 HG02738.hp2 HG03098.hp1 HG03239.hp1 HG03654.hp2 HG03704.hp2 NA18939.hp2 NA18941.hp2 NA18944.hp2 NA18946.hp2 NA18947.hp1 NA18953.hp1 NA18959.hp2 NA18960.hp2 NA18969.hp2 NA18972.hp2 NA18978.hp2 NA18985.hp2 NA18990.hp2 NA18992.hp1 NA18993.hp1 NA19003.hp1 NA19066.hp1 NA19070.hp2 NA19075.hp2 NA19076.hp2 NA19078.hp2 NA19081.hp2 NA19088.hp2 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0002 a0001c0001t0003g0011 a0001c0001t0003g0026 others(15): Show a0001c0001t0003g0002 a0001c0001t0003g0011 a0001c0001t0003g0026 a0001c0001t0003g0043 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0014g0026 a0001c0001t0014g0152	54	392	0.1378	-14	c.583 others(29): Show c.583+540_583+553delAAAAAAAAAAAAAA	AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
AP3S1_chr5_115836935_115919081	115845836	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0202 a0001c0001t0004g0202	1	378	0.0027	-14	c.69+ others(29): Show c.69+3755_69+3768delAAAAAAAAAAAAAA	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
AP3S2_chr15_89825599_89898994	89844257	TTCTTTCT others(7): Show TTCTTTCTTTCTTTC	T T	intron_variant intron_variant	MODIFIER	HG01952.hp1 HG01952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	312	0.0032	-14	c.346 others(31): Show c.346-6549_346-6536delGAAAGAAAGAAAGA	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858485	AAGAAAGA others(7): Show AAGAAAGAAAGAGAG	A A	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG02886.hp2 HG01496.hp2 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0073 a0001c0001t0005g0086 a0001c0001t0005g0073 a0001c0001t0005g0086	2	312	0.0064	-14	c.345 others(33): Show c.345+12976_345+12989delCTCTCTTTCTTTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858513	GAGAGAGA others(7): Show GAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0311 a0001c0001t0012g0311	1	312	0.0032	-14	c.345 others(33): Show c.345+12948_345+12961delTTCTCTCTCTCTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89867767	TCTGCCTG others(7): Show TCTGCCTGGCAACCA	T T	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02622.hp2 HG01109.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0043 a0001c0001t0002 a0001c0001t0043	a0001c0001t0002g0272 a0001c0001t0043g0184 a0001c0001t0002g0272 a0001c0001t0043g0184	2	312	0.0064	-14	c.345 others(31): Show c.345+3694_345+3707delTGGTTGCCAGGCAG	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP4B1_chr1_113889194_113909799	113907204	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG01358.hp2 HG01496.hp1 others(3): Show HG01255.hp1 HG01358.hp2 HG01496.hp1 HG03490.hp2 HG03492.hp2 NA19075.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0002 a0001c0003t0001g0004 a0001c0001t0002g0002 a0001c0003t0001g0004	6	434	0.0138	-14	c.-25 others(25): Show c.-2501_-2488delAAAAAAAAAAAAAA	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding		2406		chr1	TogoVar
AP4E1_chr15_50903683_51010895	50964955	CCACACAC others(7): Show CCACACACACACACA	C C	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03540.hp1 HG02895.hp1 HG03540.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0318 a0001c0001t0009g0337 a0001c0001t0009g0318 a0001c0001t0009g0337	2	392	0.0051	-14	c.185 others(33): Show c.1852-3284_1852-3271delACACACACACACAC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	51008014	TTTTTTTT others(7): Show TTTTTTTTTTTTTTG	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01891.hp1 HG03041.hp1 HG01891.hp1 HG03041.hp1	a0005 a0005	a0005c0007 a0005c0007	a0005c0007t0011 a0005c0007t0011	a0005c0007t0011g0184 a0005c0007t0011g0185 a0005c0007t0011g0184 a0005c0007t0011g0185	2	392	0.0051	-14	c.53 others(25): Show c.5353_*5366delTTTTTTTTTTTTTG	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding		2120		chr15	TogoVar
AP4M1_chr7_100096643_100114039	100098220	ATCCTTGT others(7): Show ATCCTTGTGTTCTCT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	416	0.0024	-14	c.-34 others(25): Show c.-3494_-3481delTCCTTGTGTTCTCT	AP4M1	ENSG00000221838.11	transcript	ENST00000359593.9	protein_coding		3422		chr7	TogoVar
AP4S1_chr14_31020649_31101450	31049459	ATATGTAT others(7): Show ATATGTATATATATG	A A	intron_variant intron_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0158 a0001c0001t0014g0158	1	346	0.0029	-14	c.-71 others(33): Show c.-71-16664_-71-16651delTGTATATATATGTA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31054867	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	C C	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	346	0.0029	-14	c.-71 others(33): Show c.-71-11243_-71-11230delAAAAAAAAAAAAAA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31058517	CTGTGTGT others(7): Show CTGTGTGTGTATGTG	C C	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	346	0.0029	-14	c.-71 others(31): Show c.-71-7599_-71-7586delATGTGTGTGTGTGT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP5M1_chr14_57263971_57303742	57300718	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG01081.hp2 HG02451.hp2 others(8): Show HG00544.hp2 HG01081.hp2 HG02451.hp2 HG02717.hp1 HG02723.hp1 HG02965.hp2 HG03017.hp1 HG03139.hp1 HG03491.hp1 NA18946.hp1 NA18953.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0005 a0001c0001 a0004c0005	a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 others(3): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0018 a0001c0001t0035 a0004c0005t0013 a0004c0005t0030	a0001c0001t0001g0002 a0001c0001t0001g0059 a0001c0001t0001g0074 others(6): Show a0001c0001t0001g0002 a0001c0001t0001g0059 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0005g0001 a0001c0001t0018g0024 a0001c0001t0035g0002 a0004c0005t0013g0012 a0004c0005t0030g0012	11	280	0.0393	-14	c.11 others(27): Show c.11835_*11848delTTTTTTTTTTTTTT	AP5M1	ENSG00000053770.12	transcript	ENST00000261558.8	protein_coding		1977		chr14	TogoVar
AP5Z1_chr7_4770623_4799397	4789984	TCCCCCTC others(7): Show TCCCCCTCTCCCCTC	T T	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02451.hp1	a0007 a0007	a0007c0018 a0007c0018	a0007c0018t0019 a0007c0018t0019	a0007c0018t0019g0054 a0007c0018t0019g0054	1	340	0.0029	-14	c.180 others(29): Show c.1805+63_1805+76delTCCCCTCCCCCCTC	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding	14/16		INFO_REALIGN_3_PRIME	chr7	TogoVar

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