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	78280072	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG00642.hp2 others(26): Show HG00558.hp1 HG00642.hp1 HG00642.hp2 HG01168.hp2 HG01256.hp1 HG01346.hp2 HG01358.hp2 HG01934.hp2 HG01981.hp2 HG02004.hp1 HG02071.hp1 HG02135.hp2 HG02280.hp2 HG02523.hp1 HG02683.hp2 HG02698.hp2 HG02735.hp2 HG04228.hp2 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18970.hp2 NA18979.hp2 NA18982.hp2 NA19063.hp2 NA19068.hp1 NA19081.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0001c0006 others(1): Show a0001c0001 a0001c0004 a0001c0006 a0002c0003	a0001c0001t0001 a0001c0004t0002 a0001c0006t0001 others(1): Show a0001c0001t0001 a0001c0004t0002 a0001c0006t0001 a0002c0003t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 others(26): Show a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 a0001c0004t0002g0185 a0001c0006t0001g0223 a0002c0003t0001g0218 a0002c0003t0001g0219	29	226	0.1283	3	c.129 others(22): Show c.129-12480_129-12478dupTTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	1/26			chr5	TogoVar
AP3B2_chr15_82654281_82714875	82670112	T T	TGGG TGGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00597.hp2 HG00609.hp1 others(40): Show HG00544.hp1 HG00597.hp2 HG00609.hp1 HG00673.hp1 HG01074.hp2 HG01106.hp2 HG01257.hp1 HG01261.hp1 HG01515.hp1 HG01516.hp2 HG01978.hp2 HG02027.hp1 HG02055.hp1 HG02056.hp2 HG02258.hp1 HG02273.hp2 HG02647.hp1 HG02647.hp2 HG02809.hp2 HG03130.hp1 HG03471.hp2 HG03490.hp1 HG03516.hp1 HG06807.hp2 NA18612.hp2 NA18941.hp2 NA18946.hp2 NA18947.hp1 NA18949.hp1 NA18962.hp2 NA18967.hp2 NA18972.hp2 NA18973.hp2 NA18980.hp2 NA18999.hp1 NA19011.hp1 NA19043.hp2 NA19064.hp1 NA19066.hp1 NA19074.hp2 NA19083.hp1 NA19084.hp2 NA19090.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0006 others(2): Show a0001c0001 a0001c0002 a0001c0006 a0001c0007 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0001 a0001c0006t0001 a0001c0007t0001 a0003c0004t0001	a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0034 others(40): Show a0001c0001t0001g0021 a0001c0001t0001g0031 a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0096 a0001c0001t0001g0102 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0112 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0140 a0001c0001t0001g0146 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0320 a0001c0001t0001g0332 a0001c0001t0001g0343 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0351 a0001c0001t0001g0352 a0001c0001t0001g0354 a0001c0001t0001g0359 a0001c0001t0002g0009 a0001c0002t0001g0155 a0001c0002t0001g0156 a0001c0002t0001g0335 a0001c0006t0001g0092 a0001c0007t0001g0111 a0003c0004t0001g0100	43	368	0.1169	3	c.166 others(22): Show c.1666-3180_1666-3179insCCC	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	14/26			chr15	TogoVar
AP3B2_chr15_82654281_82714875	82671741	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00438.hp2 others(61): Show HG00280.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00733.hp1 HG00735.hp1 HG01074.hp1 HG01099.hp2 HG01169.hp2 HG01175.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02602.hp2 HG02896.hp2 HG02897.hp2 HG03654.hp1 HG03704.hp1 HG03831.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18952.hp2 NA18954.hp1 NA18961.hp1 NA18970.hp2 NA18975.hp2 NA18979.hp2 NA18987.hp2 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19054.hp1 NA19057.hp2 NA19065.hp2 NA19079.hp2 NA19082.hp2 NA19085.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0010 a0002c0003 others(1): Show a0001c0001 a0001c0010 a0002c0003 a0004c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0010t0001 a0002c0003t0001 a0004c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0040 others(59): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0344 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0007g0043 a0001c0010t0001g0050 a0002c0003t0001g0019 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0088 a0004c0008t0001g0064 a0004c0008t0001g0081	64	368	0.1739	3	c.166 others(22): Show c.1665+4717_1665+4719dupTTT	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	14/26			chr15	TogoVar
AP3B2_chr15_82654281_82714875	82682047	C C	CTTT CTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00735.hp2 HG01361.hp1 others(5): Show HG00639.hp1 HG00735.hp2 HG01361.hp1 HG03139.hp2 HG03490.hp1 HG03492.hp1 NA18988.hp1 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0227 others(5): Show a0001c0001t0001g0197 a0001c0001t0001g0200 a0001c0001t0001g0227 a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009	8	368	0.0217	3	c.361 others(18): Show c.361-470_361-468dupAAA	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	4/26			chr15	TogoVar
AP3B2_chr15_82654281_82714875	82683047	G G	GTTT GTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00597.hp2 HG00741.hp1 others(22): Show HG00544.hp2 HG00597.hp2 HG00741.hp1 HG01261.hp1 HG02074.hp1 HG02155.hp2 HG02647.hp1 HG06807.hp1 NA18612.hp2 NA18946.hp2 NA18948.hp2 NA18955.hp2 NA18967.hp2 NA18971.hp2 NA18983.hp2 NA19001.hp1 NA19010.hp2 NA19011.hp1 NA19030.hp1 NA19057.hp1 NA19064.hp1 NA19066.hp1 NA19070.hp1 NA19090.hp1 NA20805.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0006 a0001c0007 others(2): Show a0001c0001 a0001c0006 a0001c0007 a0001c0015 a0003c0004	a0001c0001t0001 a0001c0001t0008 a0001c0006t0001 others(3): Show a0001c0001t0001 a0001c0001t0008 a0001c0006t0001 a0001c0007t0001 a0001c0015t0001 a0003c0004t0001	a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0031 others(22): Show a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0069 a0001c0001t0001g0096 a0001c0001t0001g0103 a0001c0001t0001g0105 a0001c0001t0001g0107 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0137 a0001c0001t0001g0146 a0001c0001t0001g0150 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0008g0362 a0001c0006t0001g0091 a0001c0007t0001g0114 a0001c0015t0001g0117 a0003c0004t0001g0116	25	368	0.0679	3	c.361 others(20): Show c.361-1470_361-1468dupAAA	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	4/26			chr15	TogoVar
AP3B2_chr15_82654281_82714875	82690706	T T	TGCA TGCA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00423.hp2 HG00438.hp2 others(61): Show HG00280.hp1 HG00423.hp2 HG00438.hp2 HG00544.hp2 HG00733.hp1 HG00735.hp1 HG01074.hp1 HG01099.hp2 HG01169.hp2 HG01175.hp1 HG01258.hp1 HG01346.hp1 HG01358.hp1 HG01515.hp2 HG01517.hp2 HG01928.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02015.hp1 HG02071.hp2 HG02083.hp2 HG02129.hp2 HG02132.hp2 HG02148.hp2 HG02165.hp2 HG02293.hp2 HG02300.hp1 HG02486.hp1 HG02602.hp2 HG02896.hp2 HG02897.hp2 HG03654.hp1 HG03704.hp1 HG03831.hp1 HG04184.hp2 HG04199.hp1 NA18612.hp1 NA18942.hp1 NA18944.hp2 NA18945.hp1 NA18952.hp2 NA18954.hp1 NA18961.hp1 NA18970.hp2 NA18975.hp2 NA18979.hp2 NA18987.hp2 NA19000.hp2 NA19002.hp1 NA19005.hp2 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19054.hp1 NA19057.hp2 NA19065.hp2 NA19079.hp2 NA19082.hp2 NA19085.hp1 NA20805.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0010 a0002c0003 others(1): Show a0001c0001 a0001c0010 a0002c0003 a0004c0008	a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0007 a0001c0010t0001 a0002c0003t0001 a0004c0008t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0040 others(59): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0089 a0001c0001t0001g0094 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0344 a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0007g0043 a0001c0010t0001g0050 a0002c0003t0001g0019 a0002c0003t0001g0084 a0002c0003t0001g0085 a0002c0003t0001g0086 a0002c0003t0001g0087 a0002c0003t0001g0088 a0004c0008t0001g0064 a0004c0008t0001g0081	64	368	0.1739	3	c.114 others(20): Show c.114-1256_114-1254dupTGC	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	1/26			chr15	TogoVar
AP3B2_chr15_82654281_82714875	82709806	A A	AGGC AGGC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01261.hp2 HG01070.hp1 HG01071.hp1 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0012 a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0012	3	368	0.0082	3	c.-10 others(12): Show c.-103_-101dupGCC	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	1/27	101		chr15	TogoVar
AP3D1_chr19_2095988_2156566	2155531	C C	CAAA CAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00597.hp2 HG01255.hp1 others(11): Show HG00099.hp1 HG00597.hp2 HG01255.hp1 HG01256.hp2 HG02145.hp1 HG03654.hp2 NA18951.hp2 NA18956.hp1 NA18964.hp2 NA18974.hp2 NA18992.hp2 NA19009.hp2 NA19065.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0005 others(1): Show a0001c0002 a0001c0003 a0001c0005 a0001c0006	a0001c0002t0001 a0001c0003t0002 a0001c0003t0009 others(2): Show a0001c0002t0001 a0001c0003t0002 a0001c0003t0009 a0001c0005t0002 a0001c0006t0008	a0001c0002t0001g0187 a0001c0002t0001g0270 a0001c0002t0001g0275 others(11): Show a0001c0002t0001g0187 a0001c0002t0001g0270 a0001c0002t0001g0275 a0001c0002t0001g0279 a0001c0002t0001g0301 a0001c0002t0001g0304 a0001c0002t0001g0313 a0001c0002t0001g0321 a0001c0003t0002g0030 a0001c0003t0002g0199 a0001c0003t0002g0249 a0001c0003t0009g0348 a0001c0005t0002g0023 a0001c0006t0008g0319	14	406	0.0345	3	c.-42 others(14): Show c.-4200_-4198dupTTT	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding		3966		chr19	TogoVar
AP3M1_chr10_74115255_74155828	74119981	T T	TATC TATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00733.hp2 HG02965.hp1 HG03669.hp1 others(5): Show HG00733.hp2 HG02965.hp1 HG03669.hp1 NA18943.hp2 NA18957.hp1 NA18964.hp1 NA19009.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0019 a0001c0001t0007 a0001c0001t0019	a0001c0001t0007g0216 a0001c0001t0007g0217 a0001c0001t0007g0218 others(5): Show a0001c0001t0007g0216 a0001c0001t0007g0217 a0001c0001t0007g0218 a0001c0001t0007g0219 a0001c0001t0007g0220 a0001c0001t0007g0221 a0001c0001t0007g0222 a0001c0001t0019g0215	8	334	0.0240	3	c.38 others(14): Show c.3826_*3828dupGAT	AP3M1	ENSG00000185009.13	transcript	ENST00000355264.9	protein_coding		273		chr10	TogoVar
AP3M2_chr8_42148063_42176183	42150870	G G	GTTT GTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00544.hp1 others(36): Show HG00140.hp1 HG00323.hp1 HG00544.hp1 HG00639.hp1 HG00639.hp2 HG00733.hp2 HG00741.hp1 HG01069.hp1 HG01074.hp2 HG01099.hp1 HG01192.hp2 HG01256.hp2 HG01257.hp2 HG01496.hp1 HG01934.hp1 HG01975.hp2 HG02083.hp1 HG02129.hp2 HG02132.hp1 HG02155.hp2 HG02698.hp2 HG03017.hp2 HG03239.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp2 NA18612.hp1 NA18946.hp1 NA18949.hp1 NA18951.hp2 NA18966.hp2 NA18978.hp1 NA18984.hp2 NA19004.hp1 NA19007.hp2 NA19070.hp1 NA19074.hp1 NA19078.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0013 a0001c0001t0002 a0001c0001t0010 a0001c0001t0013	a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 others(16): Show a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0103 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0117 a0001c0001t0002g0120 a0001c0001t0010g0005 a0001c0001t0010g0007 a0001c0001t0013g0009 a0001c0001t0013g0024	39	392	0.0995	3	c.-23 others(14): Show c.-2308_-2307insTTT	AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding		2192		chr8	TogoVar
AP3M2_chr8_42148063_42176183	42156045	T T	TATG TATG	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00280.hp1 others(348): Show HG00140.hp1 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00408.hp2 HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00558.hp2 HG00597.hp1 HG00597.hp2 HG00609.hp1 HG00609.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01175.hp2 HG01192.hp2 HG01243.hp1 HG01243.hp2 HG01255.hp1 HG01256.hp1 HG01256.hp2 HG01257.hp1 HG01257.hp2 HG01258.hp1 HG01258.hp2 HG01261.hp1 HG01261.hp2 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01517.hp2 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01928.hp1 HG01928.hp2 HG01934.hp1 HG01934.hp2 HG01952.hp1 HG01952.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG01993.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02080.hp2 HG02083.hp1 HG02083.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02132.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp2 HG02280.hp2 HG02293.hp1 HG02293.hp2 HG02300.hp1 HG02300.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02615.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02723.hp1 HG02723.hp2 HG02738.hp1 HG02738.hp2 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp2 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03490.hp1 HG03491.hp1 HG03491.hp2 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp2 HG03579.hp2 HG03654.hp2 HG03669.hp1 HG03669.hp2 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG04228.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18940.hp2 NA18941.hp1 NA18941.hp2 NA18944.hp1 NA18944.hp2 NA18945.hp1 NA18945.hp2 NA18946.hp1 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18949.hp1 NA18949.hp2 NA18951.hp1 NA18951.hp2 NA18952.hp1 NA18952.hp2 NA18953.hp1 NA18953.hp2 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18959.hp1 NA18959.hp2 NA18960.hp1 NA18960.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp1 NA18964.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp1 NA18966.hp2 NA18968.hp1 NA18968.hp2 NA18969.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp1 NA18973.hp2 NA18974.hp1 NA18974.hp2 NA18975.hp1 NA18975.hp2 NA18977.hp1 NA18977.hp2 NA18978.hp1 NA18978.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18984.hp1 NA18984.hp2 NA18985.hp1 NA18985.hp2 NA18986.hp1 NA18986.hp2 NA18987.hp1 NA18987.hp2 NA18990.hp1 NA18990.hp2 NA18991.hp1 NA18991.hp2 NA18992.hp1 NA18992.hp2 NA18993.hp1 NA18993.hp2 NA18994.hp1 NA18994.hp2 NA18995.hp1 NA18995.hp2 NA18998.hp1 NA18998.hp2 NA19000.hp1 NA19000.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19007.hp1 NA19007.hp2 NA19009.hp1 NA19009.hp2 NA19010.hp1 NA19043.hp2 NA19057.hp1 NA19057.hp2 NA19058.hp1 NA19058.hp2 NA19060.hp1 NA19060.hp2 NA19062.hp2 NA19065.hp1 NA19065.hp2 NA19066.hp1 NA19066.hp2 NA19067.hp1 NA19067.hp2 NA19070.hp1 NA19070.hp2 NA19074.hp1 NA19074.hp2 NA19075.hp1 NA19075.hp2 NA19076.hp1 NA19076.hp2 NA19078.hp1 NA19078.hp2 NA19081.hp1 NA19081.hp2 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp1 NA19088.hp2 NA19090.hp1 NA19090.hp2 NA19091.hp1 NA19091.hp2 NA19240.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(23): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0025 a0001c0002t0005 a0001c0003t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(152): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0002g0005 a0001c0001t0002g0007 a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0012 a0001c0001t0002g0017 a0001c0001t0002g0024 a0001c0001t0002g0039 a0001c0001t0002g0040 a0001c0001t0002g0052 a0001c0001t0002g0098 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0101 a0001c0001t0002g0102 a0001c0001t0002g0103 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0120 a0001c0001t0002g0121 a0001c0001t0002g0140 a0001c0001t0003g0002 a0001c0001t0003g0011 a0001c0001t0003g0026 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0153 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0156 a0001c0001t0004g0025 a0001c0001t0004g0027 a0001c0001t0004g0030 a0001c0001t0004g0041 a0001c0001t0004g0042 a0001c0001t0004g0056 a0001c0001t0004g0057 a0001c0001t0004g0058 a0001c0001t0004g0122 a0001c0001t0004g0123 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0126 a0001c0001t0004g0127 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0132 a0001c0001t0004g0133 a0001c0001t0004g0134 a0001c0001t0004g0139 a0001c0001t0004g0145 a0001c0001t0004g0157 a0001c0001t0005g0013 a0001c0001t0005g0022 a0001c0001t0005g0035 a0001c0001t0005g0036 a0001c0001t0005g0037 a0001c0001t0005g0059 a0001c0001t0005g0061 a0001c0001t0005g0092 a0001c0001t0005g0093 a0001c0001t0005g0138 a0001c0001t0006g0019 a0001c0001t0007g0023 a0001c0001t0007g0038 a0001c0001t0007g0097 a0001c0001t0008g0018 a0001c0001t0008g0049 a0001c0001t0008g0050 a0001c0001t0008g0051 a0001c0001t0009g0028 a0001c0001t0009g0029 a0001c0001t0009g0047 a0001c0001t0009g0048 a0001c0001t0010g0005 a0001c0001t0010g0007 a0001c0001t0010g0054 a0001c0001t0012g0021 a0001c0001t0012g0090 a0001c0001t0013g0009 a0001c0001t0013g0024 a0001c0001t0014g0026 a0001c0001t0014g0152 a0001c0001t0016g0005 a0001c0001t0016g0008 a0001c0001t0017g0141 a0001c0001t0017g0142 a0001c0001t0018g0017 a0001c0001t0019g0131 a0001c0001t0020g0005 a0001c0001t0021g0105 a0001c0001t0022g0042 a0001c0001t0023g0088 a0001c0001t0024g0083 a0001c0001t0025g0003 a0001c0002t0005g0022 a0001c0003t0001g0003 a0001c0003t0001g0082 a0002c0004t0001g0034	351	392	0.8954	3	c.273 others(20): Show c.273+1087_273+1088insGAT	AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
AP3M2_chr8_42148063_42176183	42162943	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02055.hp1 HG02572.hp2 others(3): Show HG01993.hp1 HG02055.hp1 HG02572.hp2 HG02895.hp1 HG02897.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0007 a0001c0001t0002 a0001c0001t0004 a0001c0001t0007	a0001c0001t0002g0110 a0001c0001t0004g0127 a0001c0001t0004g0139 others(1): Show a0001c0001t0002g0110 a0001c0001t0004g0127 a0001c0001t0004g0139 a0001c0001t0007g0023	6	392	0.0153	3	c.583 others(18): Show c.583+551_583+553dupAAA	AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
AP3S1_chr5_115836935_115919081	115839122	C C	CAAA CAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02257.hp1 HG02258.hp2 others(13): Show HG01891.hp1 HG02257.hp1 HG02258.hp2 HG02486.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02895.hp1 HG03098.hp2 HG03209.hp2 HG03225.hp1 HG03516.hp2 HG03540.hp1 HG03654.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0210 others(13): Show a0001c0001t0001g0016 a0001c0001t0001g0031 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0218 a0001c0001t0001g0234 a0001c0001t0001g0325 a0001c0001t0001g0335 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0348 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346	16	378	0.0423	3	c.-29 others(14): Show c.-2916_-2915insAAA	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding		2812		chr5	TogoVar
AP3S1_chr5_115836935_115919081	115845836	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00738.hp1 HG01256.hp2 others(10): Show HG00423.hp1 HG00738.hp1 HG01256.hp2 HG03098.hp2 HG03704.hp1 NA18980.hp1 NA18980.hp2 NA19007.hp1 NA19070.hp1 NA19083.hp2 NA19090.hp1 NA19090.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 others(10): Show a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041	13	378	0.0344	3	c.69+ others(18): Show c.69+3766_69+3768dupAAA	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
AP3S1_chr5_115836935_115919081	115850292	C C	CCTG CCTG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03654.hp2 NA19043.hp1 HG02809.hp1 HG03654.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0325 a0001c0001t0001g0333 a0001c0001t0004g0351 a0001c0001t0001g0325 a0001c0001t0001g0333 a0001c0001t0004g0351	3	378	0.0079	3	c.69+ others(18): Show c.69+8188_69+8189insGCT	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
AP3S1_chr5_115836935_115919081	115856642	C C	CATT CATT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(151): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00280.hp2 HG00609.hp2 HG00639.hp2 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG01069.hp2 HG01071.hp2 HG01081.hp2 HG01099.hp1 HG01175.hp2 HG01255.hp1 HG01255.hp2 HG01258.hp1 HG01346.hp1 HG01346.hp2 HG01358.hp1 HG01358.hp2 HG01496.hp1 HG01517.hp1 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01978.hp2 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02129.hp2 HG02135.hp2 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02683.hp2 HG02698.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02738.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG02976.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03491.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03704.hp2 HG03831.hp1 HG03831.hp2 HG04115.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18967.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18986.hp2 NA18989.hp1 NA18992.hp1 NA18993.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19063.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19077.hp2 NA19083.hp1 NA19085.hp2 NA19087.hp1 NA19089.hp1 NA20129.hp1 NA20300.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(139): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0019 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0261 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0268 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0276 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0002g0233 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0004g0351 a0001c0001t0005g0216 a0002c0002t0001g0229 a0002c0002t0001g0230	154	378	0.4074	3	c.70- others(20): Show c.70-10028_70-10027insATT	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	1/5			chr5	TogoVar
AP3S1_chr5_115836935_115919081	115869705	C C	CTGA CTGA	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02559.hp1 HG02615.hp2 others(10): Show HG02257.hp1 HG02559.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp2 HG02922.hp1 HG03130.hp2 HG03486.hp1 HG03486.hp2 HG03516.hp2 HG03540.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 others(10): Show a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347	13	378	0.0344	3	c.162 others(18): Show c.162-306_162-304dupATG	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
AP3S1_chr5_115836935_115919081	115878441	C C	CATT CATT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00140.hp1 others(154): Show HG00099.hp1 HG00099.hp2 HG00140.hp1 HG00280.hp1 HG00609.hp2 HG00639.hp1 HG00735.hp1 HG00735.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp2 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01099.hp2 HG01123.hp1 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp1 HG01358.hp2 HG01884.hp2 HG01891.hp1 HG01928.hp1 HG01934.hp1 HG01934.hp2 HG01943.hp2 HG01975.hp1 HG01978.hp1 HG01981.hp2 HG02004.hp2 HG02040.hp1 HG02071.hp1 HG02074.hp1 HG02083.hp1 HG02109.hp2 HG02129.hp2 HG02135.hp2 HG02145.hp1 HG02148.hp2 HG02165.hp2 HG02257.hp1 HG02258.hp2 HG02273.hp1 HG02280.hp1 HG02293.hp1 HG02293.hp2 HG02300.hp2 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02615.hp1 HG02615.hp2 HG02630.hp1 HG02630.hp2 HG02717.hp1 HG02717.hp2 HG02735.hp1 HG02809.hp1 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp2 HG03017.hp2 HG03041.hp1 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp2 HG03225.hp1 HG03239.hp1 HG03453.hp2 HG03471.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03516.hp2 HG03540.hp1 HG03579.hp1 HG03654.hp2 HG03704.hp2 HG03831.hp1 HG04115.hp1 HG04204.hp2 HG04228.hp2 HG06807.hp2 NA18522.hp1 NA18522.hp2 NA18906.hp1 NA18939.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18946.hp1 NA18948.hp2 NA18949.hp2 NA18950.hp1 NA18952.hp2 NA18953.hp1 NA18955.hp1 NA18962.hp2 NA18963.hp1 NA18965.hp2 NA18967.hp1 NA18971.hp2 NA18972.hp1 NA18974.hp1 NA18977.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18985.hp2 NA18986.hp2 NA18989.hp1 NA18992.hp1 NA18993.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19007.hp2 NA19009.hp1 NA19010.hp1 NA19011.hp1 NA19043.hp1 NA19054.hp2 NA19055.hp2 NA19063.hp2 NA19065.hp2 NA19068.hp2 NA19070.hp2 NA19072.hp2 NA19077.hp2 NA19083.hp1 NA19085.hp2 NA19087.hp1 NA19089.hp1 NA19240.hp2 NA20129.hp1 NA20300.hp1 NA20905.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(140): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0061 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0121 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0156 a0001c0001t0001g0191 a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0231 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0240 a0001c0001t0001g0241 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 a0001c0001t0001g0248 a0001c0001t0001g0249 a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0263 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0322 a0001c0001t0001g0323 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0001g0341 a0001c0001t0001g0342 a0001c0001t0001g0343 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0001g0350 a0001c0001t0001g0352 a0001c0001t0002g0233 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0022 a0001c0001t0003g0092 a0001c0001t0003g0157 a0001c0001t0004g0197 a0001c0001t0004g0351 a0001c0001t0005g0216 a0002c0002t0001g0229 a0002c0002t0001g0230	157	378	0.4153	3	c.273 others(20): Show c.273+8313_273+8314insATT	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	3/5			chr5	TogoVar
AP3S1_chr5_115836935_115919081	115914854	C C	CTTT CTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp2 HG01346.hp1 HG01361.hp1 others(10): Show HG00738.hp2 HG01346.hp1 HG01361.hp1 HG01981.hp2 HG02148.hp2 HG02293.hp1 HG04199.hp1 NA18955.hp1 NA18963.hp1 NA18981.hp1 NA18989.hp1 NA18995.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0123 a0001c0001t0001g0221 others(10): Show a0001c0001t0001g0046 a0001c0001t0001g0123 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0232 a0001c0001t0001g0250 a0001c0001t0001g0257 a0001c0001t0001g0259 a0001c0001t0001g0292 a0001c0001t0001g0296 a0001c0001t0001g0302 a0001c0001t0001g0309 a0001c0001t0001g0320	13	378	0.0344	3	c.13 others(14): Show c.1364_*1365insTTT	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding		774		chr5	TogoVar
AP3S2_chr15_89825599_89898994	89854813	C C	CTCT CTCT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01261.hp2 HG02622.hp2 HG01109.hp1 HG01261.hp2 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0043 a0001c0001t0002 a0001c0001t0043	a0001c0001t0002g0192 a0001c0001t0002g0272 a0001c0001t0043g0184 a0001c0001t0002g0192 a0001c0001t0002g0272 a0001c0001t0043g0184	3	312	0.0096	3	c.345 others(22): Show c.345+16661_345+16662insAGA	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89866261	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00597.hp1 HG00621.hp2 others(54): Show HG00423.hp2 HG00597.hp1 HG00621.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp2 HG01109.hp1 HG01123.hp1 HG01175.hp2 HG01192.hp2 HG01358.hp1 HG01361.hp1 HG01361.hp2 HG01952.hp1 HG01981.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp1 HG02129.hp1 HG02132.hp1 HG02145.hp1 HG02257.hp2 HG02300.hp1 HG02559.hp2 HG02622.hp2 HG02630.hp2 HG02723.hp1 HG03209.hp2 HG03453.hp1 HG03453.hp2 HG03516.hp2 HG03669.hp1 HG04184.hp1 HG04184.hp2 HG04199.hp1 HG06807.hp2 NA18522.hp1 NA18943.hp1 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18954.hp1 NA18960.hp1 NA18975.hp2 NA18979.hp1 NA18990.hp1 NA18991.hp2 NA18995.hp1 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19010.hp2 NA19030.hp1 NA19056.hp1 NA19065.hp1 NA19067.hp1 NA19091.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0004 a0001c0001 a0002c0002 a0003c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(13): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0016 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0029 a0001c0001t0039 a0001c0001t0042 a0001c0001t0043 a0002c0002t0013 a0003c0004t0016	a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0001t0001g0047 others(54): Show a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0061 a0001c0001t0001g0063 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0174 a0001c0001t0001g0182 a0001c0001t0001g0209 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0233 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0001g0294 a0001c0001t0002g0057 a0001c0001t0002g0180 a0001c0001t0002g0239 a0001c0001t0002g0241 a0001c0001t0002g0246 a0001c0001t0002g0249 a0001c0001t0002g0255 a0001c0001t0002g0259 a0001c0001t0002g0272 a0001c0001t0002g0273 a0001c0001t0002g0276 a0001c0001t0002g0279 a0001c0001t0002g0280 a0001c0001t0002g0289 a0001c0001t0004g0248 a0001c0001t0004g0257 a0001c0001t0004g0258 a0001c0001t0004g0281 a0001c0001t0004g0285 a0001c0001t0006g0210 a0001c0001t0006g0225 a0001c0001t0006g0288 a0001c0001t0012g0295 a0001c0001t0012g0296 a0001c0001t0012g0311 a0001c0001t0014g0010 a0001c0001t0016g0301 a0001c0001t0016g0302 a0001c0001t0019g0229 a0001c0001t0020g0200 a0001c0001t0022g0029 a0001c0001t0022g0160 a0001c0001t0029g0178 a0001c0001t0039g0064 a0001c0001t0042g0256 a0001c0001t0043g0184 a0002c0002t0013g0187 a0003c0004t0016g0304	57	312	0.1827	3	c.345 others(20): Show c.345+5211_345+5213dupTTT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP4B1_chr1_113889194_113909799	113892712	T T	TAAA TAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01109.hp1 HG02055.hp1 HG02886.hp2 others(6): Show HG01109.hp1 HG02055.hp1 HG02886.hp2 HG03098.hp1 HG04115.hp2 HG04199.hp2 NA18972.hp1 NA19030.hp1 NA19030.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0003 a0002c0002t0002 a0002c0002t0003	a0002c0002t0002g0003 a0002c0002t0002g0016 a0002c0002t0002g0020 others(3): Show a0002c0002t0002g0003 a0002c0002t0002g0016 a0002c0002t0002g0020 a0002c0002t0002g0026 a0002c0002t0003g0005 a0002c0002t0003g0025	9	434	0.0207	3	c.23 others(14): Show c.2352_*2353insTTT	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding		1481		chr1	TogoVar
AP4B1_chr1_113889194_113909799	113893250	G G	GTTA GTTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp1 HG03098.hp1 NA19030.hp1 HG02723.hp1 HG03098.hp1 NA19030.hp1	a0002 a0008 a0002 a0008	a0002c0002 a0008c0012 a0002c0002 a0008c0012	a0002c0002t0002 a0008c0012t0002 a0002c0002t0002 a0008c0012t0002	a0002c0002t0002g0026 a0008c0012t0002g0048 a0002c0002t0002g0026 a0008c0012t0002g0048	3	434	0.0069	3	c.18 others(14): Show c.1814_*1815insTAA	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding		943		chr1	TogoVar
AP4B1_chr1_113889194_113909799	113897142	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18963.hp1 NA18967.hp2 others(4): Show NA18940.hp1 NA18963.hp1 NA18967.hp2 NA18979.hp1 NA18981.hp2 NA18993.hp2 NA19006.hp1	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0001 a0001c0004t0001 a0001c0003t0001 a0001c0004t0001	a0001c0003t0001g0013 a0001c0004t0001g0081 a0001c0003t0001g0013 a0001c0004t0001g0081	7	434	0.0161	3	c.130 others(20): Show c.1303-680_1303-678dupTTT	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding	7/9			chr1	TogoVar
AP4B1_chr1_113889194_113909799	113907234	T T	TTTA TTTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG02056.hp2 HG02155.hp2 others(9): Show HG00423.hp2 HG02056.hp2 HG02155.hp2 HG02723.hp1 NA18945.hp1 NA18945.hp2 NA18946.hp2 NA18957.hp1 NA18988.hp2 NA19006.hp1 NA19012.hp2 NA19067.hp1	a0001 a0008 a0001 a0008	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0008c0012	a0001c0001t0001 a0001c0003t0001 a0001c0003t0008 others(2): Show a0001c0001t0001 a0001c0003t0001 a0001c0003t0008 a0001c0004t0001 a0008c0012t0002	a0001c0001t0001g0060 a0001c0003t0001g0004 a0001c0003t0001g0013 others(3): Show a0001c0001t0001g0060 a0001c0003t0001g0004 a0001c0003t0001g0013 a0001c0003t0008g0064 a0001c0004t0001g0011 a0008c0012t0002g0048	12	434	0.0277	3	c.-25 others(14): Show c.-2518_-2517insTAA	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding		2436		chr1	TogoVar
AP4E1_chr15_50903683_51010895	50907295	G G	GTTT GTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG04199.hp2 NA19058.hp2 HG01175.hp1 HG04199.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0326 a0001c0001t0004g0366 a0001c0001t0004g0380 a0001c0001t0001g0326 a0001c0001t0004g0366 a0001c0001t0004g0380	3	392	0.0077	3	c.-14 others(14): Show c.-1484_-1483insTTT	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding		1387		chr15	TogoVar
AP4E1_chr15_50903683_51010895	50920109	C C	CCTT CCTT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00609.hp1 others(77): Show HG00099.hp2 HG00408.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01109.hp2 HG01167.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp1 HG01243.hp1 HG01261.hp1 HG01515.hp2 HG01517.hp1 HG01891.hp2 HG02027.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02145.hp2 HG02486.hp2 HG02615.hp2 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG03195.hp1 HG03239.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp1 HG03704.hp2 HG03710.hp1 HG03834.hp2 HG03927.hp1 HG04115.hp1 HG06807.hp1 NA18612.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18943.hp2 NA18946.hp1 NA18947.hp2 NA18948.hp1 NA18948.hp2 NA18956.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18975.hp1 NA18978.hp2 NA18979.hp1 NA18981.hp1 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18992.hp1 NA19004.hp1 NA19006.hp1 NA19057.hp1 NA19058.hp1 NA19067.hp1 NA19074.hp2 NA19079.hp1 NA19088.hp1 NA20129.hp2 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0011c0009	a0001c0001t0003 a0002c0002t0002 a0002c0003t0003 others(8): Show a0001c0001t0003 a0002c0002t0002 a0002c0003t0003 a0002c0003t0010 a0002c0003t0013 a0002c0003t0014 a0002c0003t0020 a0002c0003t0022 a0003c0004t0007 a0003c0004t0018 a0011c0009t0003	a0001c0001t0003g0328 a0002c0002t0002g0080 a0002c0002t0002g0082 others(76): Show a0001c0001t0003g0328 a0002c0002t0002g0080 a0002c0002t0002g0082 a0002c0002t0002g0106 a0002c0003t0003g0025 a0002c0003t0003g0026 a0002c0003t0003g0027 a0002c0003t0003g0028 a0002c0003t0003g0031 a0002c0003t0003g0126 a0002c0003t0003g0127 a0002c0003t0003g0128 a0002c0003t0003g0129 a0002c0003t0003g0130 a0002c0003t0003g0131 a0002c0003t0003g0133 a0002c0003t0003g0134 a0002c0003t0003g0135 a0002c0003t0003g0136 a0002c0003t0003g0137 a0002c0003t0003g0138 a0002c0003t0003g0139 a0002c0003t0003g0140 a0002c0003t0003g0141 a0002c0003t0003g0142 a0002c0003t0003g0143 a0002c0003t0003g0144 a0002c0003t0003g0145 a0002c0003t0003g0146 a0002c0003t0003g0147 a0002c0003t0003g0148 a0002c0003t0003g0149 a0002c0003t0003g0150 a0002c0003t0003g0151 a0002c0003t0003g0152 a0002c0003t0003g0153 a0002c0003t0003g0154 a0002c0003t0003g0155 a0002c0003t0003g0156 a0002c0003t0003g0157 a0002c0003t0003g0158 a0002c0003t0003g0159 a0002c0003t0003g0160 a0002c0003t0003g0162 a0002c0003t0003g0163 a0002c0003t0003g0164 a0002c0003t0003g0166 a0002c0003t0003g0167 a0002c0003t0003g0168 a0002c0003t0003g0169 a0002c0003t0003g0171 a0002c0003t0003g0172 a0002c0003t0003g0173 a0002c0003t0003g0174 a0002c0003t0003g0175 a0002c0003t0003g0176 a0002c0003t0003g0177 a0002c0003t0003g0178 a0002c0003t0003g0180 a0002c0003t0003g0181 a0002c0003t0003g0182 a0002c0003t0003g0183 a0002c0003t0003g0193 a0002c0003t0003g0194 a0002c0003t0010g0032 a0002c0003t0010g0033 a0002c0003t0010g0034 a0002c0003t0013g0001 a0002c0003t0014g0017 a0002c0003t0014g0018 a0002c0003t0020g0008 a0002c0003t0022g0007 a0003c0004t0007g0021 a0003c0004t0007g0022 a0003c0004t0007g0023 a0003c0004t0007g0024 a0003c0004t0018g0019 a0003c0004t0018g0020 a0011c0009t0003g0161	80	392	0.2041	3	c.347 others(20): Show c.347-3821_347-3819dupCTT	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50922163	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG02071.hp2 HG02080.hp1 others(12): Show HG00423.hp1 HG02071.hp2 HG02080.hp1 HG02135.hp2 HG02148.hp1 HG02698.hp2 HG04199.hp1 NA18966.hp1 NA18978.hp1 NA19000.hp1 NA19002.hp1 NA19006.hp1 NA19066.hp2 NA19067.hp2 NA19086.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0024 a0002c0002t0002 a0002c0002t0024	a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0039 others(12): Show a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0039 a0002c0002t0002g0044 a0002c0002t0002g0045 a0002c0002t0002g0049 a0002c0002t0002g0050 a0002c0002t0002g0051 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0106 a0002c0002t0002g0110 a0002c0002t0002g0120 a0002c0002t0002g0121 a0002c0002t0024g0047	15	392	0.0383	3	c.347 others(20): Show c.347-1749_347-1747dupAAA	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	3/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50948339	C C	CTTT CTTT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG02293.hp1 HG02738.hp2 others(7): Show HG01516.hp1 HG02293.hp1 HG02738.hp2 HG03490.hp2 HG03492.hp1 HG03516.hp1 HG03688.hp1 HG03927.hp2 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0307 a0001c0001t0003g0309 a0001c0001t0003g0310 others(7): Show a0001c0001t0003g0307 a0001c0001t0003g0309 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0327 a0001c0001t0003g0328 a0001c0001t0003g0342	10	392	0.0255	3	c.131 others(20): Show c.1316+196_1316+198dupTTT	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	11/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50957671	C C	CTTT CTTT	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01123.hp2 HG01255.hp1 others(29): Show HG01109.hp1 HG01123.hp2 HG01255.hp1 HG01433.hp1 HG01496.hp1 HG01516.hp1 HG02055.hp2 HG02083.hp2 HG02257.hp2 HG02293.hp1 HG02622.hp2 HG02630.hp2 HG02647.hp2 HG02809.hp1 HG02895.hp1 HG02970.hp1 HG03098.hp1 HG03130.hp2 HG03139.hp1 HG03209.hp1 HG03225.hp2 HG03453.hp2 HG03492.hp1 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03688.hp1 HG03927.hp2 NA19043.hp2 NA20300.hp1 NA20752.hp1 homoSapiens_chm13v2.hp1	a0001 a0007 a0008 a0001 a0007 a0008	a0001c0001 a0007c0011 a0008c0013 a0001c0001 a0007c0011 a0008c0013	a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 others(3): Show a0001c0001t0003 a0001c0001t0005 a0001c0001t0009 a0001c0001t0029 a0007c0011t0005 a0008c0013t0005	a0001c0001t0003g0308 a0001c0001t0003g0310 a0001c0001t0003g0311 others(29): Show a0001c0001t0003g0308 a0001c0001t0003g0310 a0001c0001t0003g0311 a0001c0001t0003g0312 a0001c0001t0003g0313 a0001c0001t0003g0314 a0001c0001t0003g0315 a0001c0001t0003g0316 a0001c0001t0003g0317 a0001c0001t0003g0327 a0001c0001t0003g0342 a0001c0001t0005g0301 a0001c0001t0005g0302 a0001c0001t0005g0303 a0001c0001t0005g0305 a0001c0001t0005g0306 a0001c0001t0005g0321 a0001c0001t0005g0330 a0001c0001t0005g0331 a0001c0001t0005g0332 a0001c0001t0005g0333 a0001c0001t0005g0334 a0001c0001t0005g0335 a0001c0001t0005g0338 a0001c0001t0005g0340 a0001c0001t0009g0318 a0001c0001t0009g0319 a0001c0001t0009g0320 a0001c0001t0009g0337 a0001c0001t0029g0304 a0007c0011t0005g0339 a0008c0013t0005g0329	32	392	0.0816	3	c.154 others(20): Show c.1549-800_1549-798dupTTT	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	13/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50962889	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00323.hp1 HG00609.hp2 others(25): Show HG00099.hp1 HG00323.hp1 HG00609.hp2 HG00639.hp2 HG01069.hp1 HG01071.hp2 HG01106.hp1 HG01167.hp2 HG01168.hp2 HG01169.hp1 HG01175.hp1 HG01257.hp1 HG01346.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01952.hp2 HG01975.hp1 HG01993.hp2 HG02602.hp2 HG03209.hp2 HG03225.hp1 HG03704.hp1 HG04184.hp2 HG04199.hp2 HG04204.hp1 HG06807.hp1 NA18961.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0002c0006 a0001c0001 a0002c0003 a0002c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0025 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0025 a0002c0003t0003 a0002c0003t0010 a0002c0006t0015	a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0004g0365 others(25): Show a0001c0001t0001g0263 a0001c0001t0001g0264 a0001c0001t0004g0365 a0001c0001t0004g0366 a0001c0001t0004g0368 a0001c0001t0004g0369 a0001c0001t0004g0370 a0001c0001t0004g0372 a0001c0001t0004g0373 a0001c0001t0004g0374 a0001c0001t0004g0375 a0001c0001t0004g0376 a0001c0001t0004g0377 a0001c0001t0004g0378 a0001c0001t0004g0379 a0001c0001t0004g0380 a0001c0001t0004g0381 a0001c0001t0004g0382 a0001c0001t0004g0383 a0001c0001t0004g0384 a0001c0001t0004g0386 a0001c0001t0004g0388 a0001c0001t0025g0371 a0002c0003t0003g0025 a0002c0003t0010g0032 a0002c0003t0010g0033 a0002c0003t0010g0034 a0002c0006t0015g0348	28	392	0.0714	3	c.185 others(22): Show c.1851+4120_1851+4122dupAAA	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50965221	T T	TGGC TGGC	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG06807.hp1 HG01167.hp2 HG01169.hp1 HG06807.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0010 a0002c0003t0010	a0002c0003t0010g0032 a0002c0003t0010g0033 a0002c0003t0010g0034 a0002c0003t0010g0032 a0002c0003t0010g0033 a0002c0003t0010g0034	3	392	0.0077	3	c.185 others(22): Show c.1852-3041_1852-3039dupGGC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50982086	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00408.hp2 HG00609.hp1 others(57): Show HG00099.hp2 HG00408.hp2 HG00609.hp1 HG00621.hp1 HG00621.hp2 HG00733.hp1 HG00741.hp2 HG01074.hp2 HG01099.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp1 HG01243.hp1 HG01261.hp1 HG01515.hp2 HG01517.hp1 HG01981.hp2 HG02056.hp1 HG02071.hp1 HG02074.hp1 HG02257.hp1 HG02486.hp1 HG02895.hp2 HG03098.hp2 HG03492.hp2 HG03516.hp2 HG03704.hp2 HG03834.hp2 HG03927.hp1 NA18612.hp2 NA18747.hp2 NA18939.hp1 NA18946.hp1 NA18948.hp2 NA18959.hp1 NA18960.hp1 NA18964.hp2 NA18965.hp1 NA18967.hp2 NA18975.hp1 NA18978.hp2 NA18981.hp2 NA18982.hp1 NA18984.hp2 NA18986.hp1 NA18990.hp2 NA18993.hp2 NA19001.hp1 NA19004.hp1 NA19004.hp2 NA19057.hp1 NA19058.hp1 NA19067.hp1 NA19068.hp1 NA19079.hp1 NA19079.hp2 NA19086.hp1 NA19088.hp1 NA19088.hp2 NA20752.hp2	a0002 a0011 a0002 a0011	a0002c0002 a0002c0003 a0002c0006 others(1): Show a0002c0002 a0002c0003 a0002c0006 a0011c0009	a0002c0002t0002 a0002c0002t0012 a0002c0003t0003 others(4): Show a0002c0002t0002 a0002c0002t0012 a0002c0003t0003 a0002c0003t0006 a0002c0003t0013 a0002c0006t0015 a0011c0009t0003	a0002c0002t0002g0046 a0002c0002t0002g0074 a0002c0002t0002g0082 others(56): Show a0002c0002t0002g0046 a0002c0002t0002g0074 a0002c0002t0002g0082 a0002c0002t0002g0087 a0002c0002t0002g0100 a0002c0002t0002g0119 a0002c0002t0002g0120 a0002c0002t0002g0125 a0002c0002t0012g0112 a0002c0003t0003g0026 a0002c0003t0003g0126 a0002c0003t0003g0130 a0002c0003t0003g0131 a0002c0003t0003g0132 a0002c0003t0003g0133 a0002c0003t0003g0134 a0002c0003t0003g0135 a0002c0003t0003g0136 a0002c0003t0003g0138 a0002c0003t0003g0139 a0002c0003t0003g0140 a0002c0003t0003g0141 a0002c0003t0003g0142 a0002c0003t0003g0143 a0002c0003t0003g0144 a0002c0003t0003g0145 a0002c0003t0003g0146 a0002c0003t0003g0148 a0002c0003t0003g0149 a0002c0003t0003g0150 a0002c0003t0003g0151 a0002c0003t0003g0152 a0002c0003t0003g0153 a0002c0003t0003g0154 a0002c0003t0003g0156 a0002c0003t0003g0157 a0002c0003t0003g0159 a0002c0003t0003g0162 a0002c0003t0003g0163 a0002c0003t0003g0164 a0002c0003t0003g0165 a0002c0003t0003g0166 a0002c0003t0003g0168 a0002c0003t0003g0171 a0002c0003t0003g0172 a0002c0003t0003g0173 a0002c0003t0003g0174 a0002c0003t0003g0175 a0002c0003t0003g0176 a0002c0003t0003g0177 a0002c0003t0003g0181 a0002c0003t0003g0182 a0002c0003t0003g0183 a0002c0003t0003g0193 a0002c0003t0006g0188 a0002c0003t0006g0192 a0002c0003t0013g0001 a0002c0006t0015g0347 a0011c0009t0003g0161	60	392	0.1531	3	c.196 others(22): Show c.1967-1915_1967-1913dupAAA	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50990344	T T	TTTA TTTA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01167.hp1 HG01257.hp2 others(18): Show HG00609.hp2 HG01167.hp1 HG01257.hp2 HG01891.hp1 HG01978.hp2 HG02109.hp1 HG02486.hp1 HG02615.hp1 HG03041.hp1 HG03516.hp1 HG03516.hp2 HG03942.hp2 HG04115.hp2 HG06807.hp2 NA18942.hp1 NA18953.hp2 NA18955.hp1 NA18977.hp1 NA18986.hp2 NA19060.hp2 NA20129.hp1	a0001 a0002 a0005 a0001 a0002 a0005	a0001c0001 a0002c0003 a0005c0007 a0001c0001 a0002c0003 a0005c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0019 a0002c0003t0006 a0005c0007t0011	a0001c0001t0001g0204 a0001c0001t0001g0222 a0001c0001t0001g0233 others(18): Show a0001c0001t0001g0204 a0001c0001t0001g0222 a0001c0001t0001g0233 a0001c0001t0001g0237 a0001c0001t0001g0247 a0001c0001t0001g0264 a0001c0001t0001g0266 a0001c0001t0001g0269 a0001c0001t0001g0277 a0001c0001t0003g0328 a0001c0001t0019g0215 a0001c0001t0019g0230 a0002c0003t0006g0186 a0002c0003t0006g0187 a0002c0003t0006g0188 a0002c0003t0006g0189 a0002c0003t0006g0190 a0002c0003t0006g0191 a0002c0003t0006g0192 a0005c0007t0011g0184 a0005c0007t0011g0185	21	392	0.0536	3	c.209 others(22): Show c.2091-2996_2091-2994dupATT	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	16/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4M1_chr7_100096643_100114039	100103887	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01361.hp2 HG01433.hp2 others(26): Show HG00673.hp2 HG01361.hp2 HG01433.hp2 HG01981.hp2 HG02071.hp2 HG02083.hp1 HG02109.hp2 HG02486.hp1 HG02523.hp2 HG02602.hp2 HG02723.hp1 HG02738.hp2 HG04184.hp1 HG04199.hp2 NA18944.hp1 NA18975.hp2 NA18977.hp1 NA18979.hp1 NA18985.hp1 NA18987.hp2 NA19000.hp2 NA19002.hp2 NA19006.hp1 NA19009.hp1 NA19066.hp2 NA19084.hp1 NA19089.hp2 NA19090.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0008 a0001c0001t0012 a0001c0001t0018 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032	a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0017 others(13): Show a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0040 a0001c0001t0001g0055 a0001c0001t0001g0060 a0001c0001t0001g0064 a0001c0001t0008g0009 a0001c0001t0012g0030 a0001c0001t0012g0061 a0001c0001t0018g0014 a0001c0001t0030g0031 a0001c0001t0031g0009 a0001c0001t0032g0051	29	416	0.0697	3	c.544 others(18): Show c.544-188_544-186dupAAA	AP4M1	ENSG00000221838.11	transcript	ENST00000359593.9	protein_coding	6/14		INFO_REALIGN_3_PRIME	chr7	TogoVar
AP4S1_chr14_31020649_31101450	31032523	A A	ATTT ATTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00323.hp2 others(69): Show HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00621.hp1 HG00733.hp1 HG00738.hp1 HG01069.hp1 HG01081.hp2 HG01123.hp2 HG01168.hp1 HG01168.hp2 HG01169.hp1 HG01243.hp1 HG01257.hp1 HG01258.hp2 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02145.hp1 HG02451.hp2 HG02486.hp1 HG02559.hp1 HG02572.hp1 HG02630.hp2 HG02683.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp2 HG02970.hp1 HG03139.hp1 HG03195.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp1 HG03491.hp1 HG03579.hp1 HG03704.hp1 HG03704.hp2 HG03831.hp1 HG03927.hp2 HG04199.hp2 HG04204.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp2 NA18943.hp1 NA18946.hp2 NA18954.hp2 NA18957.hp2 NA18968.hp1 NA18977.hp1 NA18982.hp1 NA18983.hp1 NA18988.hp1 NA18999.hp1 NA19003.hp2 NA19005.hp2 NA19009.hp2 NA19060.hp2 NA19068.hp2 NA19078.hp2 NA19080.hp2 NA19088.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0008 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0016 a0001c0001t0018 a0001c0001t0020 a0001c0001t0032 a0001c0001t0041 a0001c0001t0043 a0001c0001t0047	a0001c0001t0001g0003 a0001c0001t0001g0206 a0001c0001t0001g0207 others(69): Show a0001c0001t0001g0003 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0210 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0228 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0246 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0338 a0001c0001t0002g0196 a0001c0001t0003g0245 a0001c0001t0003g0247 a0001c0001t0003g0258 a0001c0001t0003g0259 a0001c0001t0003g0260 a0001c0001t0004g0209 a0001c0001t0004g0216 a0001c0001t0004g0253 a0001c0001t0004g0254 a0001c0001t0004g0255 a0001c0001t0004g0256 a0001c0001t0004g0257 a0001c0001t0004g0278 a0001c0001t0005g0226 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0007g0265 a0001c0001t0007g0266 a0001c0001t0007g0267 a0001c0001t0007g0268 a0001c0001t0007g0269 a0001c0001t0008g0003 a0001c0001t0008g0244 a0001c0001t0012g0199 a0001c0001t0012g0200 a0001c0001t0012g0201 a0001c0001t0013g0276 a0001c0001t0015g0211 a0001c0001t0016g0197 a0001c0001t0016g0198 a0001c0001t0018g0205 a0001c0001t0020g0202 a0001c0001t0032g0250 a0001c0001t0041g0227 a0001c0001t0043g0204 a0001c0001t0047g0264	72	346	0.2081	3	c.-72 others(20): Show c.-72+6749_-72+6751dupTTT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31039571	T T	TTTG TTTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00673.hp2 others(59): Show HG00140.hp2 HG00423.hp2 HG00673.hp2 HG01081.hp1 HG01109.hp2 HG01175.hp1 HG01243.hp2 HG01346.hp2 HG01884.hp1 HG01952.hp1 HG02015.hp1 HG02056.hp2 HG02080.hp1 HG02129.hp2 HG02165.hp1 HG02257.hp1 HG02280.hp1 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02698.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp2 HG03017.hp2 HG03041.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03453.hp2 HG03516.hp1 HG03654.hp2 HG03834.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18939.hp1 NA18946.hp2 NA18947.hp2 NA18948.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp2 NA18969.hp1 NA18977.hp1 NA18987.hp1 NA18988.hp1 NA18994.hp1 NA18995.hp2 NA19000.hp1 NA19002.hp2 NA19007.hp1 NA19011.hp1 NA19043.hp1 NA19065.hp1 NA19068.hp1 NA19081.hp1 NA19082.hp2 NA19091.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0019 a0001c0001t0031 a0001c0001t0040 a0001c0001t0042	a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 others(59): Show a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0092 a0001c0001t0001g0118 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0311 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0001t0005g0279 a0001c0001t0005g0305 a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0018 a0001c0001t0006g0019 a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0001t0006g0327 a0001c0001t0006g0328 a0001c0001t0008g0013 a0001c0001t0019g0008 a0001c0001t0031g0326 a0001c0001t0040g0323 a0001c0001t0042g0014	62	346	0.1792	3	c.-72 others(22): Show c.-72+13784_-72+13785insTTG	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5			chr14	TogoVar
AP4S1_chr14_31020649_31101450	31049428	A A	ATAT ATAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03516.hp1 NA18982.hp1 others(5): Show HG01099.hp1 HG03516.hp1 NA18982.hp1 NA18991.hp1 NA19007.hp2 NA19058.hp2 NA19062.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0019 a0001c0001t0001 a0001c0001t0019	a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0113 others(5): Show a0001c0001t0001g0103 a0001c0001t0001g0106 a0001c0001t0001g0113 a0001c0001t0001g0117 a0001c0001t0001g0120 a0001c0001t0001g0122 a0001c0001t0001g0212 a0001c0001t0019g0008	8	346	0.0231	3	c.-71 others(22): Show c.-71-16698_-71-16697insTAT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5			chr14	TogoVar
AP4S1_chr14_31020649_31101450	31054867	C C	CAAA CAAA	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00673.hp2 HG01109.hp2 others(13): Show HG00544.hp2 HG00673.hp2 HG01109.hp2 HG01175.hp1 HG01243.hp2 HG02015.hp1 HG02056.hp2 HG02080.hp1 HG02602.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 NA18947.hp2 NA18988.hp1 NA19002.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0040 a0001c0001t0001 a0001c0001t0005 a0001c0001t0040	a0001c0001t0001g0118 a0001c0001t0001g0281 a0001c0001t0001g0284 others(13): Show a0001c0001t0001g0118 a0001c0001t0001g0281 a0001c0001t0001g0284 a0001c0001t0001g0288 a0001c0001t0001g0309 a0001c0001t0001g0312 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0318 a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0341 a0001c0001t0005g0279 a0001c0001t0040g0323	16	346	0.0462	3	c.-71 others(22): Show c.-71-11232_-71-11230dupAAA	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31079900	T T	TTAC TTAC	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00280.hp2 others(169): Show HG00099.hp1 HG00099.hp2 HG00280.hp2 HG00323.hp1 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00438.hp1 HG00621.hp2 HG00639.hp1 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00733.hp2 HG00738.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp1 HG01168.hp2 HG01169.hp1 HG01169.hp2 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01255.hp2 HG01256.hp1 HG01256.hp2 HG01257.hp2 HG01258.hp1 HG01346.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01884.hp1 HG01884.hp2 HG01928.hp1 HG01952.hp2 HG01981.hp1 HG01981.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02071.hp1 HG02074.hp2 HG02083.hp2 HG02135.hp1 HG02145.hp1 HG02165.hp2 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02486.hp1 HG02523.hp1 HG02559.hp2 HG02572.hp1 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02647.hp1 HG02647.hp2 HG02683.hp2 HG02698.hp1 HG02723.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp1 HG02922.hp2 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG03017.hp1 HG03041.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03486.hp1 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03491.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp2 HG03540.hp2 HG03579.hp1 HG03654.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG03942.hp2 HG04115.hp2 HG04199.hp2 HG06807.hp1 HG06807.hp2 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18942.hp2 NA18943.hp2 NA18944.hp1 NA18945.hp1 NA18947.hp1 NA18951.hp1 NA18953.hp1 NA18954.hp1 NA18956.hp1 NA18957.hp1 NA18971.hp2 NA18972.hp1 NA18983.hp2 NA18986.hp2 NA18988.hp2 NA18989.hp1 NA18989.hp2 NA18991.hp2 NA18994.hp2 NA18995.hp1 NA18999.hp2 NA19000.hp2 NA19003.hp1 NA19005.hp1 NA19009.hp1 NA19057.hp2 NA19058.hp1 NA19065.hp2 NA19067.hp1 NA19075.hp1 NA19075.hp2 NA19076.hp2 NA19078.hp2 NA19082.hp1 NA19088.hp1 NA19090.hp2 NA19091.hp1 NA20300.hp1 NA20300.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(25): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0021 a0001c0001t0022 a0001c0001t0023 a0001c0001t0024 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0001c0001t0032 a0001c0001t0034 a0001c0001t0035 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0049	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(167): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0023 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0092 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0107 a0001c0001t0001g0126 a0001c0001t0001g0128 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0001g0207 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0237 a0001c0001t0001g0238 a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0246 a0001c0001t0001g0270 a0001c0001t0001g0320 a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0162 a0001c0001t0002g0163 a0001c0001t0002g0165 a0001c0001t0002g0166 a0001c0001t0002g0168 a0001c0001t0002g0169 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0174 a0001c0001t0002g0175 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0180 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0185 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0189 a0001c0001t0002g0191 a0001c0001t0002g0196 a0001c0001t0002g0277 a0001c0001t0003g0002 a0001c0001t0003g0024 a0001c0001t0003g0025 a0001c0001t0003g0026 a0001c0001t0003g0027 a0001c0001t0003g0071 a0001c0001t0003g0130 a0001c0001t0003g0145 a0001c0001t0003g0146 a0001c0001t0003g0147 a0001c0001t0003g0148 a0001c0001t0003g0149 a0001c0001t0003g0150 a0001c0001t0003g0151 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0156 a0001c0001t0003g0245 a0001c0001t0004g0216 a0001c0001t0005g0064 a0001c0001t0005g0081 a0001c0001t0005g0226 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0006g0015 a0001c0001t0006g0016 a0001c0001t0006g0017 a0001c0001t0006g0018 a0001c0001t0006g0019 a0001c0001t0006g0020 a0001c0001t0006g0021 a0001c0001t0006g0327 a0001c0001t0006g0328 a0001c0001t0008g0003 a0001c0001t0008g0013 a0001c0001t0008g0061 a0001c0001t0008g0244 a0001c0001t0009g0038 a0001c0001t0009g0065 a0001c0001t0009g0069 a0001c0001t0009g0070 a0001c0001t0009g0262 a0001c0001t0010g0271 a0001c0001t0010g0272 a0001c0001t0010g0273 a0001c0001t0010g0274 a0001c0001t0010g0275 a0001c0001t0013g0276 a0001c0001t0013g0301 a0001c0001t0013g0317 a0001c0001t0015g0143 a0001c0001t0017g0077 a0001c0001t0017g0078 a0001c0001t0021g0001 a0001c0001t0022g0167 a0001c0001t0023g0181 a0001c0001t0024g0190 a0001c0001t0026g0194 a0001c0001t0027g0164 a0001c0001t0028g0193 a0001c0001t0030g0068 a0001c0001t0031g0326 a0001c0001t0032g0250 a0001c0001t0034g0010 a0001c0001t0035g0034 a0001c0001t0042g0014 a0001c0001t0043g0204 a0001c0001t0044g0131 a0001c0001t0049g0229	172	346	0.4971	3	c.295 others(18): Show c.295-671_295-669dupACT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	4/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31083433	A A	AGTG AGTG	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG03195.hp2 HG03209.hp2 HG02109.hp1 HG03195.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0018 a0001c0001t0047 a0001c0001t0015 a0001c0001t0018 a0001c0001t0047	a0001c0001t0015g0263 a0001c0001t0018g0205 a0001c0001t0047g0264 a0001c0001t0015g0263 a0001c0001t0018g0205 a0001c0001t0047g0264	3	346	0.0087	3	c.306 others(20): Show c.306+2852_306+2854dupGGT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP4S1_chr14_31020649_31101450	31083496	C C	CTTT CTTT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00423.hp2 HG00438.hp1 others(65): Show HG00140.hp2 HG00423.hp2 HG00438.hp1 HG00544.hp2 HG00621.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp2 HG01081.hp1 HG01109.hp2 HG01123.hp1 HG01175.hp2 HG01192.hp1 HG01192.hp2 HG01243.hp2 HG01361.hp2 HG01928.hp1 HG01952.hp1 HG02015.hp1 HG02040.hp2 HG02056.hp2 HG02074.hp1 HG02129.hp2 HG02155.hp2 HG02572.hp2 HG02602.hp2 HG02683.hp1 HG02698.hp2 HG03017.hp2 HG03098.hp1 HG03209.hp1 HG03225.hp1 HG03490.hp1 HG03516.hp2 HG03579.hp1 HG03654.hp1 HG03704.hp2 HG03710.hp2 HG03834.hp2 HG03927.hp2 HG03942.hp1 HG04115.hp1 HG04184.hp2 NA18939.hp1 NA18943.hp2 NA18946.hp2 NA18948.hp2 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18977.hp1 NA18977.hp2 NA18987.hp1 NA18988.hp1 NA18995.hp1 NA18995.hp2 NA19000.hp2 NA19002.hp2 NA19007.hp1 NA19043.hp1 NA19043.hp2 NA19065.hp1 NA19068.hp1 NA19078.hp2 NA19081.hp1 NA19082.hp1 NA20300.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0007 a0001c0001t0009 a0001c0001t0013 a0001c0001t0014 a0001c0001t0035 a0001c0001t0040 a0001c0001t0045	a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0039 others(65): Show a0001c0001t0001g0033 a0001c0001t0001g0035 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0056 a0001c0001t0001g0060 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0118 a0001c0001t0001g0141 a0001c0001t0001g0238 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0270 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0284 a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0290 a0001c0001t0001g0292 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0315 a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0001g0322 a0001c0001t0001g0325 a0001c0001t0001g0329 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0335 a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0341 a0001c0001t0002g0174 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0005g0030 a0001c0001t0005g0305 a0001c0001t0007g0265 a0001c0001t0007g0266 a0001c0001t0007g0268 a0001c0001t0007g0269 a0001c0001t0009g0038 a0001c0001t0009g0065 a0001c0001t0009g0069 a0001c0001t0009g0070 a0001c0001t0009g0262 a0001c0001t0013g0276 a0001c0001t0014g0158 a0001c0001t0014g0159 a0001c0001t0014g0160 a0001c0001t0035g0034 a0001c0001t0040g0323 a0001c0001t0045g0086	68	346	0.1965	3	c.306 others(20): Show c.306+2936_306+2938dupTTT	AP4S1	ENSG00000100478.16	transcript	ENST00000542754.7	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
AP5B1_chr11_65768898_65785976	65769257	C C	CAAA CAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00741.hp2 HG01106.hp1 others(17): Show HG00423.hp1 HG00741.hp2 HG01106.hp1 HG01891.hp2 HG02145.hp1 HG02280.hp2 HG02572.hp2 HG02896.hp1 HG03195.hp2 HG03209.hp1 HG03516.hp1 HG03942.hp1 NA18949.hp1 NA18979.hp1 NA18979.hp2 NA18987.hp1 NA18987.hp2 NA19078.hp1 NA19240.hp1 NA20300.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0010	a0001c0004 a0002c0003 a0002c0007 others(3): Show a0001c0004 a0002c0003 a0002c0007 a0003c0002 a0004c0005 a0010c0016	a0001c0004t0002 a0002c0003t0002 a0002c0007t0002 others(6): Show a0001c0004t0002 a0002c0003t0002 a0002c0007t0002 a0003c0002t0003 a0003c0002t0011 a0004c0005t0006 a0004c0005t0024 a0004c0005t0044 a0010c0016t0024	a0001c0004t0002g0005 a0002c0003t0002g0002 a0002c0007t0002g0006 others(6): Show a0001c0004t0002g0005 a0002c0003t0002g0002 a0002c0007t0002g0006 a0003c0002t0003g0003 a0003c0002t0011g0013 a0004c0005t0006g0008 a0004c0005t0024g0051 a0004c0005t0044g0050 a0010c0016t0024g0040	20	424	0.0472	3	c.85 others(14): Show c.8598_*8599insTTT	AP5B1	ENSG00000254470.3	transcript	ENST00000532090.3	protein_coding		4640		chr11	TogoVar
AP5S1_chr20_3815547_3833838	3818084	C C	CAAA CAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp1 HG01109.hp1 HG01123.hp1 others(23): Show HG00639.hp1 HG01109.hp1 HG01123.hp1 HG01168.hp1 HG01891.hp1 HG02258.hp1 HG02486.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02723.hp2 HG02735.hp2 HG02895.hp2 HG02897.hp1 HG03239.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG03540.hp2 HG03669.hp2 NA18947.hp2 NA18951.hp1 NA18955.hp2 NA19083.hp1 NA20805.hp2 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0034 a0002c0002t0010	a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0004g0002 others(12): Show a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0004g0002 a0001c0001t0005g0003 a0001c0001t0006g0006 a0001c0001t0008g0003 a0001c0001t0009g0003 a0001c0001t0009g0016 a0001c0001t0009g0029 a0001c0001t0010g0002 a0001c0001t0012g0007 a0001c0001t0013g0012 a0001c0001t0015g0017 a0001c0001t0034g0016 a0002c0002t0010g0002	26	412	0.0631	3	c.-26 others(14): Show c.-2691_-2690insAAA	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2462		chr20	TogoVar
AP5S1_chr20_3815547_3833838	3818462	C C	CTAG CTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 HG02970.hp2 HG03195.hp1 others(4): Show HG02818.hp1 HG02970.hp2 HG03195.hp1 HG03225.hp2 HG03486.hp1 NA18522.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0019 a0001c0001t0028 others(3): Show a0001c0001t0013 a0001c0001t0019 a0001c0001t0028 a0001c0001t0029 a0001c0001t0030 a0001c0001t0031	a0001c0001t0013g0012 a0001c0001t0019g0025 a0001c0001t0028g0009 others(3): Show a0001c0001t0013g0012 a0001c0001t0019g0025 a0001c0001t0028g0009 a0001c0001t0029g0026 a0001c0001t0030g0009 a0001c0001t0031g0015	7	412	0.0170	3	c.-23 others(14): Show c.-2313_-2312insTAG	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2084		chr20	TogoVar
AP5S1_chr20_3815547_3833838	3824931	C C	CAAA CAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00735.hp1 HG01884.hp1 HG02055.hp1 others(26): Show HG00735.hp1 HG01884.hp1 HG02055.hp1 HG02109.hp1 HG02258.hp2 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02895.hp1 HG02897.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03225.hp2 HG03453.hp1 HG03540.hp1 HG03579.hp2 NA18522.hp2 NA19043.hp2 NA19240.hp1 NA20129.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0004 a0001c0001 a0006c0004	a0001c0001t0006 a0001c0001t0013 a0001c0001t0018 others(7): Show a0001c0001t0006 a0001c0001t0013 a0001c0001t0018 a0001c0001t0019 a0001c0001t0029 a0001c0001t0031 a0001c0001t0057 a0001c0001t0058 a0001c0001t0059 a0006c0004t0056	a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0010 others(15): Show a0001c0001t0006g0005 a0001c0001t0006g0006 a0001c0001t0006g0010 a0001c0001t0006g0030 a0001c0001t0006g0031 a0001c0001t0006g0033 a0001c0001t0006g0034 a0001c0001t0006g0035 a0001c0001t0013g0012 a0001c0001t0018g0009 a0001c0001t0019g0015 a0001c0001t0019g0025 a0001c0001t0029g0026 a0001c0001t0031g0015 a0001c0001t0057g0018 a0001c0001t0058g0005 a0001c0001t0059g0010 a0006c0004t0056g0010	29	412	0.0704	3	c.64 others(12): Show c.648_*650dupAAA	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding	3/3	651	INFO_REALIGN_3_PRIME	chr20	TogoVar
AP5S1_chr20_3815547_3833838	3831641	T T	TGTG TGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG01123.hp1 HG01981.hp2 others(14): Show HG00639.hp1 HG01123.hp1 HG01981.hp2 HG02055.hp2 HG02622.hp2 HG02630.hp1 HG02735.hp2 HG02809.hp2 HG03239.hp2 HG03516.hp2 HG03669.hp2 NA18906.hp1 NA19043.hp1 NA20300.hp2 NA20805.hp2 NA20905.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 others(3): Show a0001c0001t0001 a0001c0001t0009 a0001c0001t0015 a0001c0001t0026 a0001c0001t0033 a0001c0001t0034	a0001c0001t0001g0001 a0001c0001t0009g0003 a0001c0001t0009g0016 others(6): Show a0001c0001t0001g0001 a0001c0001t0009g0003 a0001c0001t0009g0016 a0001c0001t0009g0029 a0001c0001t0015g0003 a0001c0001t0015g0017 a0001c0001t0026g0003 a0001c0001t0033g0003 a0001c0001t0034g0016	17	412	0.0413	3	c.73 others(14): Show c.7344_*7345insGTG	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2804		chr20	TogoVar
AP5Z1_chr7_4770623_4799397	4795460	A A	ATTT ATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01081.hp1 HG01496.hp1 HG01884.hp2 others(5): Show HG01081.hp1 HG01496.hp1 HG01884.hp2 HG01891.hp2 HG02630.hp2 HG02886.hp2 HG03041.hp1 HG03195.hp1	a0001 a0005 a0001 a0005	a0001c0005 a0005c0008 a0001c0005 a0005c0008	a0001c0005t0009 a0001c0005t0048 a0005c0008t0013 a0001c0005t0009 a0001c0005t0048 a0005c0008t0013	a0001c0005t0009g0031 a0001c0005t0009g0032 a0001c0005t0009g0089 others(3): Show a0001c0005t0009g0031 a0001c0005t0009g0032 a0001c0005t0009g0089 a0001c0005t0048g0031 a0005c0008t0013g0033 a0005c0008t0013g0092	8	340	0.0235	3	c.40 others(14): Show c.4075_*4076insTTT	AP5Z1	ENSG00000242802.9	transcript	ENST00000649063.2	protein_coding		1064		chr7	TogoVar
APAF1_chr12_98640290_98740433	98659752	G G	GAAA GAAA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG02080.hp2 HG02135.hp2 others(17): Show HG00438.hp1 HG02080.hp2 HG02135.hp2 HG03239.hp2 HG03831.hp1 NA18747.hp2 NA18942.hp1 NA18948.hp1 NA18949.hp2 NA18950.hp1 NA18954.hp2 NA18959.hp1 NA18963.hp1 NA18968.hp2 NA18970.hp2 NA18972.hp1 NA18978.hp2 NA19081.hp1 NA19086.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0021 a0001c0001t0002 a0001c0001t0021	a0001c0001t0002g0221 a0001c0001t0002g0314 a0001c0001t0002g0324 others(17): Show a0001c0001t0002g0221 a0001c0001t0002g0314 a0001c0001t0002g0324 a0001c0001t0002g0326 a0001c0001t0002g0331 a0001c0001t0002g0332 a0001c0001t0002g0333 a0001c0001t0002g0334 a0001c0001t0002g0335 a0001c0001t0002g0336 a0001c0001t0002g0337 a0001c0001t0002g0338 a0001c0001t0002g0339 a0001c0001t0002g0340 a0001c0001t0002g0341 a0001c0001t0002g0344 a0001c0001t0002g0345 a0001c0001t0002g0346 a0001c0001t0002g0348 a0001c0001t0021g0350	20	366	0.0546	3	c.710 others(18): Show c.710+427_710+429dupAAA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	5/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98667765	A A	ATTT ATTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00438.hp1 HG02015.hp2 others(13): Show HG00408.hp1 HG00438.hp1 HG02015.hp2 HG02056.hp1 HG02080.hp2 HG02148.hp2 HG02293.hp1 HG03831.hp1 HG04199.hp2 NA18949.hp2 NA18959.hp1 NA19000.hp2 NA19002.hp1 NA19057.hp2 NA19063.hp2 NA19078.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0021 a0001c0001t0002 a0001c0001t0006 a0001c0001t0021	a0001c0001t0002g0209 a0001c0001t0002g0221 a0001c0001t0002g0328 others(13): Show a0001c0001t0002g0209 a0001c0001t0002g0221 a0001c0001t0002g0328 a0001c0001t0002g0329 a0001c0001t0002g0330 a0001c0001t0002g0341 a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 a0001c0001t0002g0346 a0001c0001t0002g0347 a0001c0001t0006g0138 a0001c0001t0006g0150 a0001c0001t0006g0166 a0001c0001t0006g0222 a0001c0001t0021g0350	16	366	0.0437	3	c.149 others(20): Show c.1494+143_1494+145dupTTT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	10/26		INFO_REALIGN_3_PRIME	chr12	TogoVar

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