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
AOPEP_chr9_94721699_95092159	94906483	A A	AATAATAA others(7): Show AATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	182	0.0055	14	c.136 others(35): Show c.1365-17502_1365-17501insTAATAATAATAATA	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
AOPEP_chr9_94721699_95092159	94914523	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG02145.hp2 HG02965.hp1 others(1): Show HG01255.hp1 HG02145.hp2 HG02965.hp1 HG06807.hp2	a0001 a0002 a0010 a0001 a0002 a0010	a0001c0001 a0002c0008 a0010c0009 a0001c0001 a0002c0008 a0010c0009	a0001c0001t0003 a0002c0008t0001 a0002c0008t0003 others(1): Show a0001c0001t0003 a0002c0008t0001 a0002c0008t0003 a0010c0009t0001	a0001c0001t0003g0107 a0002c0008t0001g0128 a0002c0008t0003g0136 others(1): Show a0001c0001t0003g0107 a0002c0008t0001g0128 a0002c0008t0003g0136 a0010c0009t0001g0170	4	182	0.0220	14	c.136 others(33): Show c.1365-9438_1365-9425dupGTGTGTGTGTGTGT	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
AOPEP_chr9_94721699_95092159	95041444	G G	GGTGTGTG others(7): Show GGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG02145.hp1 HG02165.hp2 others(3): Show HG00741.hp2 HG02145.hp1 HG02165.hp2 HG03654.hp2 NA18991.hp2 NA19010.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0016 a0003c0003 a0001c0001 a0001c0016 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0016t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0016t0001 a0003c0003t0001	a0001c0001t0001g0013 a0001c0001t0001g0115 a0001c0001t0002g0017 others(3): Show a0001c0001t0001g0013 a0001c0001t0001g0115 a0001c0001t0002g0017 a0001c0016t0001g0110 a0003c0003t0001g0173 a0003c0003t0001g0175	6	182	0.0330	14	c.211 others(35): Show c.2116-19249_2116-19248insTGTGTGTGTGTGTG	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	13/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
AOX1_chr2_200581014_200676495	200613003	C C	CGTGTGTG others(7): Show CGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03492.hp1 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0161 a0001c0001t0002g0161	1	370	0.0027	14	c.144 others(31): Show c.1448+222_1448+235dupTGTGTGTGTGTGTG	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	14/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200613027	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01243.hp1 HG02647.hp1 others(9): Show HG00639.hp2 HG01243.hp1 HG02647.hp1 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp2 HG03453.hp1 HG03486.hp2 HG03491.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0002c0002t0007 a0003c0003t0004 a0001c0001t0001 a0002c0002t0007 a0003c0003t0004	a0001c0001t0001g0003 a0001c0001t0001g0220 a0001c0001t0001g0234 others(8): Show a0001c0001t0001g0003 a0001c0001t0001g0220 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0269 a0001c0001t0001g0275 a0002c0002t0007g0252 a0003c0003t0004g0276	12	370	0.0324	14	c.144 others(31): Show c.1448+235_1448+236insTGTGTGTGTGAGAG	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	14/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200613027	T T	TGTGTGTG others(7): Show TGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	NA18940.hp2 NA18947.hp1 NA18968.hp2 others(10): Show NA18940.hp2 NA18947.hp1 NA18968.hp2 NA18969.hp1 NA18975.hp1 NA18981.hp2 NA18983.hp2 NA18984.hp2 NA18989.hp1 NA18994.hp2 NA19063.hp2 NA19074.hp2 NA19091.hp1	a0001 a0019 a0001 a0019	a0001c0001 a0019c0011 a0001c0001 a0019c0011	a0001c0001t0001 a0001c0001t0002 a0019c0011t0001 a0001c0001t0001 a0001c0001t0002 a0019c0011t0001	a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0190 others(10): Show a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0001t0001g0194 a0001c0001t0001g0195 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0002g0102 a0001c0001t0002g0181 a0001c0001t0002g0191 a0019c0011t0001g0202	13	370	0.0351	14	c.144 others(31): Show c.1448+235_1448+236insTGTGTGTGTGTGAG	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	14/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200657165	A A	AAAAAATA others(7): Show AAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0003 a0003	a0003c0006 a0003c0006	a0003c0006t0001 a0003c0006t0001	a0003c0006t0001g0105 a0003c0006t0001g0105	1	370	0.0027	14	c.317 others(31): Show c.3171+229_3171+230insAAAATATATATATA	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200657190	A A	ATATATAT others(7): Show ATATATATATATTTT	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0003 a0003	a0003c0026 a0003c0026	a0003c0026t0001 a0003c0026t0001	a0003c0026t0001g0213 a0003c0026t0001g0213	1	370	0.0027	14	c.317 others(31): Show c.3171+254_3171+255insATATATATATTTTT	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200657190	A A	ATATATAT others(7): Show ATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0216 a0001c0001t0001g0216	1	370	0.0027	14	c.317 others(31): Show c.3171+254_3171+255insATATATATTTTTTT	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200657190	A A	ATATTTTT others(7): Show ATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0007 a0006c0010t0007	a0006c0010t0007g0280 a0006c0010t0007g0280	1	370	0.0027	14	c.317 others(31): Show c.3171+254_3171+255insATTTTTTTTTTTTT	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200657190	A A	ATTTTTTT others(7): Show ATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0003 a0003	a0003c0009 a0003c0009	a0003c0009t0001 a0003c0009t0001	a0003c0009t0001g0361 a0003c0009t0001g0361	1	370	0.0027	14	c.317 others(31): Show c.3171+255_3171+268dupTTTTTTTTTTTTTT	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AP1AR_chr4_112226787_112278110	112269093	G G	GATATATA others(7): Show GATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02155.hp1 HG02155.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0025 a0001c0001t0025	a0001c0001t0025g0151 a0001c0001t0025g0151	1	398	0.0025	14	c.68 others(23): Show c.689_*702dupATATATATATATAT	AP1AR	ENSG00000138660.12	transcript	ENST00000274000.10	protein_coding	10/10	703	INFO_REALIGN_3_PRIME	chr4	TogoVar
AP1G1_chr16_71724000_71813834	71736098	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02738.hp2 NA18977.hp2 HG00733.hp2 HG02738.hp2 NA18977.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0230 a0001c0001t0002g0297 a0001c0001t0003g0277 a0001c0001t0002g0230 a0001c0001t0002g0297 a0001c0001t0003g0277	3	320	0.0094	14	c.226 others(33): Show c.2269-1405_2269-1392dupTTTTTTTTTTTTTT	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	21/22			chr16	TogoVar
AP1G1_chr16_71724000_71813834	71736117	A A	AAAAAAAA others(7): Show AAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG03209.hp2 NA19088.hp1 HG03209.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0242 a0001c0001t0002g0310 a0001c0001t0002g0242 a0001c0001t0002g0310	2	320	0.0063	14	c.226 others(33): Show c.2269-1411_2269-1410insATTTTTTTTTTTTT	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	21/22			chr16	TogoVar
AP1G1_chr16_71724000_71813834	71736117	A A	AAAAAAAA others(7): Show AAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0312 a0001c0001t0002g0312	1	320	0.0031	14	c.226 others(33): Show c.2269-1411_2269-1410insATATTTTTTTTTTT	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	21/22			chr16	TogoVar
AP1G1_chr16_71724000_71813834	71736117	A A	AAAAAAAA others(7): Show AAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0026 a0001c0001t0026	a0001c0001t0026g0311 a0001c0001t0026g0311	1	320	0.0031	14	c.226 others(33): Show c.2269-1411_2269-1410insATATATTTTTTTTT	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	21/22			chr16	TogoVar
AP1G1_chr16_71724000_71813834	71801878	C C	CGCCACTG others(7): Show CGCCACTGCACTCCA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0196 a0001c0001t0003g0196	1	320	0.0031	14	c.-4+ others(29): Show c.-4+6871_-4+6884dupTGGAGTGCAGTGGC	AP1G1	ENSG00000166747.13	transcript	ENST00000299980.9	protein_coding	1/22			chr16	TogoVar
AP1M1_chr19_16192911_16250906	16215194	C C	CAGGGGCG others(7): Show CAGGGGCGGGGGGCG	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0094 a0001c0002t0005g0094	1	308	0.0033	14	c.546 others(31): Show c.546+6017_546+6018insAGGGGCGGGGGGCG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	5/11			chr19	TogoVar
AP1M1_chr19_16192911_16250906	16215194	C C	CAGGGGCG others(7): Show CAGGGGCGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01358.hp1 HG01928.hp2 others(3): Show HG00609.hp1 HG01358.hp1 HG01928.hp2 HG02717.hp1 NA18978.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0031 a0001c0001t0134 others(3): Show a0001c0001t0004 a0001c0001t0031 a0001c0001t0134 a0001c0001t0138 a0001c0002t0002 a0001c0002t0075	a0001c0001t0004g0237 a0001c0001t0031g0258 a0001c0001t0134g0243 others(3): Show a0001c0001t0004g0237 a0001c0001t0031g0258 a0001c0001t0134g0243 a0001c0001t0138g0242 a0001c0002t0002g0028 a0001c0002t0075g0121	6	308	0.0195	14	c.546 others(31): Show c.546+6017_546+6018insAGGGGCGGGGGGGG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	5/11			chr19	TogoVar
AP1M1_chr19_16192911_16250906	16215220	G G	GGGGGGGG others(7): Show GGGGGGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0016 a0001c0001t0042g0016	1	308	0.0033	14	c.546 others(31): Show c.546+6043_546+6044insGGGGGGGGAGGGGA	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	5/11			chr19	TogoVar
AP1M1_chr19_16192911_16250906	16250292	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0158 a0001c0002t0002g0158	1	308	0.0033	14	c.15 others(27): Show c.15857_*15858insTGTGTGTGTGTGTG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding		4387		chr19	TogoVar
AP1M1_chr19_16192911_16250906	16250312	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02258.hp1 HG02630.hp2 HG02717.hp2 others(2): Show HG02258.hp1 HG02630.hp2 HG02717.hp2 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0035 a0001c0001t0038 a0001c0001t0034 a0001c0001t0035 a0001c0001t0038	a0001c0001t0034g0048 a0001c0001t0034g0050 a0001c0001t0035g0030 others(1): Show a0001c0001t0034g0048 a0001c0001t0034g0050 a0001c0001t0035g0030 a0001c0001t0038g0004	5	308	0.0162	14	c.15 others(27): Show c.15877_*15878insTGTGTGTGTGTGTA	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding		4407		chr19	TogoVar
AP1M2_chr19_10567671_10592312	10570547	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01106.hp2 HG01928.hp2 NA18945.hp1 HG01106.hp2 HG01928.hp2 NA18945.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0001 a0001c0002t0002g0025 a0001c0002t0002g0128 a0001c0002t0002g0001 a0001c0002t0002g0025 a0001c0002t0002g0128	3	394	0.0076	14	c.25 others(25): Show c.2518_*2519insTTTTTTTTTTTTTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding		2123		chr19	TogoVar
AP1M2_chr19_10567671_10592312	10585353	A A	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA18979.hp2 NA18979.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0191 a0001c0003t0001g0191	1	394	0.0025	14	c.43- others(29): Show c.43-1284_43-1283insCTTTCTTTCTTTCT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding	1/11			chr19	TogoVar
AP1S2_chrX_15820806_15859813	15834439	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp1 HG01515.hp1 others(11): Show HG00733.hp1 HG00738.hp1 HG01515.hp1 HG01517.hp1 HG01975.hp2 HG02004.hp1 HG02615.hp2 HG03453.hp2 HG03669.hp1 NA18980.hp1 NA19002.hp2 NA19064.hp1 NA20300.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005	a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0040 others(5): Show a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0040 a0001c0001t0002g0079 a0001c0001t0002g0108 a0001c0001t0002g0131 a0001c0001t0004g0018 a0001c0001t0005g0017	14	318	0.0440	14	c.427 others(31): Show c.427-6253_427-6240dupATATATATATATAT	AP1S2	ENSG00000182287.15	transcript	ENST00000672987.1	protein_coding	4/5			chrX	TogoVar
AP1S3_chr2_223750326_223842582	223770497	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01433.hp1 HG01981.hp2 others(23): Show HG00544.hp2 HG01433.hp1 HG01981.hp2 HG01993.hp1 HG02056.hp2 HG02074.hp1 HG02293.hp2 HG02523.hp1 HG03490.hp2 HG03688.hp2 HG03710.hp1 HG03927.hp1 HG04184.hp2 NA18612.hp2 NA18951.hp1 NA18971.hp1 NA18974.hp2 NA18984.hp2 NA18998.hp1 NA18999.hp2 NA19030.hp2 NA19074.hp2 NA19079.hp2 NA19084.hp1 NA19089.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0011 a0001c0001t0018 a0001c0001t0069 a0001c0001t0072	a0001c0001t0001g0070 a0001c0001t0001g0110 a0001c0001t0002g0007 others(23): Show a0001c0001t0001g0070 a0001c0001t0001g0110 a0001c0001t0002g0007 a0001c0001t0002g0179 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0017 a0001c0001t0003g0020 a0001c0001t0003g0024 a0001c0001t0003g0027 a0001c0001t0003g0028 a0001c0001t0003g0029 a0001c0001t0003g0037 a0001c0001t0003g0063 a0001c0001t0003g0092 a0001c0001t0003g0198 a0001c0001t0003g0312 a0001c0001t0011g0022 a0001c0001t0011g0036 a0001c0001t0011g0200 a0001c0001t0011g0214 a0001c0001t0011g0228 a0001c0001t0011g0238 a0001c0001t0018g0068 a0001c0001t0069g0059 a0001c0001t0072g0339	26	340	0.0765	14	c.292 others(31): Show c.292-5161_292-5148dupGTGTGTGTGTGTGT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	3/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223780276	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0056 a0001c0001t0056	a0001c0001t0056g0003 a0001c0001t0056g0003	1	340	0.0029	14	c.4-2 others(27): Show c.4-2421_4-2408dupATATATATATATAT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223780308	T T	TATATATA others(7): Show TATATATATATATAG	intron_variant intron_variant	MODIFIER	NA18980.hp2 NA19005.hp2 NA18980.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0252 a0001c0001t0005g0328 a0001c0001t0001g0252 a0001c0001t0005g0328	2	340	0.0059	14	c.4-2 others(27): Show c.4-2440_4-2439insCTATATATATATAT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP1S3_chr2_223750326_223842582	223835072	A A	ATAATATT others(7): Show ATAATATTATGAAAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp2 HG00639.hp2 others(78): Show HG00099.hp1 HG00140.hp2 HG00639.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp1 HG01106.hp1 HG01109.hp2 HG01123.hp2 HG01168.hp1 HG01175.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01258.hp1 HG01261.hp1 HG01361.hp1 HG01361.hp2 HG01433.hp2 HG01496.hp1 HG01496.hp2 HG01515.hp2 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02145.hp2 HG02165.hp1 HG02257.hp2 HG02451.hp1 HG02451.hp2 HG02622.hp2 HG02698.hp1 HG02723.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02965.hp1 HG02970.hp1 HG03041.hp2 HG03098.hp1 HG03130.hp2 HG03195.hp1 HG03195.hp2 HG03453.hp1 HG03471.hp2 HG03486.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG03669.hp2 HG03710.hp1 HG03831.hp2 NA18522.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 NA19079.hp1 NA19086.hp2 NA19087.hp1 NA19089.hp2 NA19090.hp2 NA19240.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(29): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0001t0017 a0001c0001t0018 a0001c0001t0019 a0001c0001t0020 a0001c0001t0022 a0001c0001t0028 a0001c0001t0029 a0001c0001t0037 a0001c0001t0042 a0001c0001t0044 a0001c0001t0047 a0001c0001t0053 a0001c0001t0054 a0001c0001t0056 a0001c0001t0057 a0001c0001t0058 a0001c0001t0061 a0001c0001t0062 a0001c0001t0063 a0001c0001t0065 a0001c0001t0066 a0001c0001t0071 a0001c0001t0072 a0001c0003t0034	a0001c0001t0001g0001 a0001c0001t0001g0110 a0001c0001t0001g0119 others(77): Show a0001c0001t0001g0001 a0001c0001t0001g0110 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0138 a0001c0001t0001g0144 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0162 a0001c0001t0002g0004 a0001c0001t0002g0097 a0001c0001t0002g0098 a0001c0001t0002g0109 a0001c0001t0002g0153 a0001c0001t0002g0154 a0001c0001t0002g0163 a0001c0001t0004g0107 a0001c0001t0004g0108 a0001c0001t0004g0111 a0001c0001t0004g0112 a0001c0001t0004g0113 a0001c0001t0004g0114 a0001c0001t0004g0115 a0001c0001t0004g0116 a0001c0001t0004g0124 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0141 a0001c0001t0004g0146 a0001c0001t0004g0155 a0001c0001t0004g0157 a0001c0001t0006g0103 a0001c0001t0007g0156 a0001c0001t0007g0158 a0001c0001t0007g0159 a0001c0001t0007g0337 a0001c0001t0012g0099 a0001c0001t0012g0106 a0001c0001t0013g0142 a0001c0001t0013g0143 a0001c0001t0013g0165 a0001c0001t0015g0095 a0001c0001t0017g0096 a0001c0001t0018g0104 a0001c0001t0018g0149 a0001c0001t0019g0139 a0001c0001t0020g0137 a0001c0001t0020g0140 a0001c0001t0022g0101 a0001c0001t0022g0130 a0001c0001t0028g0117 a0001c0001t0029g0123 a0001c0001t0037g0105 a0001c0001t0042g0152 a0001c0001t0044g0150 a0001c0001t0047g0322 a0001c0001t0053g0321 a0001c0001t0054g0005 a0001c0001t0056g0003 a0001c0001t0057g0118 a0001c0001t0058g0100 a0001c0001t0061g0120 a0001c0001t0062g0102 a0001c0001t0063g0145 a0001c0001t0065g0127 a0001c0001t0066g0161 a0001c0001t0071g0338 a0001c0001t0072g0339 a0001c0003t0034g0164	81	340	0.2382	14	c.3+2 others(27): Show c.3+2375_3+2376insATTTCATAATATTA	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP2A2_chr11_920870_1017240	935603	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA19085.hp1 HG02135.hp1 NA19085.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0195 a0001c0003t0002g0210 a0001c0003t0002g0195 a0001c0003t0002g0210	2	268	0.0075	14	c.67+ others(29): Show c.67+9524_67+9537dupTTTTTTTTTTTTTT	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2B1_chr17_35582322_35731413	35590847	T T	TTAAGACT others(7): Show TTAAGACTTAGGTTA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0120 a0001c0001t0002g0120	1	372	0.0027	14	c.-23 others(31): Show c.-23-3160_-23-3147dupTAAGACTTAGGTTA	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35648743	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0271 a0001c0002t0001g0271	1	372	0.0027	14	c.153 others(33): Show c.1537-1769_1537-1756dupTGTGTGTGTGTGTG	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	12/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720541	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0138 a0001c0001t0005g0139 a0001c0001t0005g0138 a0001c0001t0005g0139	2	372	0.0054	14	c.278 others(33): Show c.2782-3081_2782-3080insATATATATATATAT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720545	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG03471.hp2 HG00323.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0110 a0001c0001t0003g0014 a0001c0001t0002g0110 a0001c0001t0003g0014	2	372	0.0054	14	c.278 others(33): Show c.2782-3064_2782-3051dupATATATATATATAT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720573	A A	ATATATAT others(7): Show ATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0129 a0001c0001t0015g0129	1	372	0.0027	14	c.278 others(33): Show c.2782-3051_2782-3050insATATATTTTTTTTT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATTT others(7): Show ATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0002 a0001c0004t0002	a0001c0004t0002g0006 a0001c0004t0002g0006	1	226	0.0044	14	c.787 others(33): Show c.787-12109_787-12108insAAAAAAAAAATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATTTTT others(7): Show ATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0162 a0001c0002t0002g0162	1	226	0.0044	14	c.787 others(33): Show c.787-12109_787-12108insAAAAAAAAAAAATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78202552	A A	AGTGTGTG others(7): Show AGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG04199.hp2 NA19074.hp1 HG01175.hp1 HG04199.hp2 NA19074.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0130 a0001c0002t0002g0160 a0001c0002t0002g0166 a0001c0002t0002g0130 a0001c0002t0002g0160 a0001c0002t0002g0166	3	226	0.0133	14	c.786 others(33): Show c.786+13489_786+13502dupACACACACACACAC	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78223027	C C	CTCTTTTT others(7): Show CTCTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01168.hp1 HG01258.hp1 others(34): Show HG00408.hp1 HG01168.hp1 HG01258.hp1 HG01346.hp1 HG01496.hp1 HG01934.hp1 HG01952.hp2 HG01993.hp1 HG02004.hp2 HG02055.hp2 HG02071.hp2 HG02280.hp1 HG02451.hp1 HG02523.hp2 HG02647.hp2 HG02886.hp1 HG03486.hp1 HG03516.hp2 HG03704.hp2 HG03831.hp1 HG04184.hp2 NA18747.hp1 NA18961.hp2 NA18970.hp1 NA18972.hp1 NA18973.hp1 NA18978.hp1 NA18979.hp1 NA18988.hp1 NA18995.hp1 NA18998.hp2 NA19002.hp1 NA19009.hp2 NA19057.hp2 NA19063.hp1 NA19083.hp1 NA20300.hp1	a0001 a0002 a0005 others(1): Show a0001 a0002 a0005 a0006	a0001c0001 a0001c0005 a0001c0010 others(3): Show a0001c0001 a0001c0005 a0001c0010 a0002c0003 a0005c0015 a0006c0013	a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0005t0001 a0001c0005t0002 a0001c0010t0002 a0002c0003t0002 a0005c0015t0001 a0006c0013t0002	a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0002g0011 others(34): Show a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0002g0015 a0001c0001t0002g0016 a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0020 a0001c0001t0002g0021 a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0025 a0001c0001t0002g0026 a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0093 a0001c0001t0002g0094 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0119 a0001c0001t0002g0159 a0001c0005t0001g0195 a0001c0005t0002g0004 a0001c0005t0002g0187 a0001c0005t0002g0188 a0001c0005t0002g0190 a0001c0005t0002g0191 a0001c0005t0002g0192 a0001c0005t0002g0194 a0001c0010t0002g0024 a0002c0003t0002g0031 a0005c0015t0001g0105 a0006c0013t0002g0193	37	226	0.1637	14	c.603 others(31): Show c.603+2514_603+2515insAAAAAAAAAAAAGA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	6/26			chr5	TogoVar
AP3B2_chr15_82654281_82714875	82665376	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG03486.hp1 HG04115.hp2 others(1): Show HG00323.hp1 HG03486.hp1 HG04115.hp2 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0231 a0001c0001t0001g0283 others(1): Show a0001c0001t0001g0157 a0001c0001t0001g0231 a0001c0001t0001g0283 a0001c0001t0001g0309	4	368	0.0109	14	c.197 others(29): Show c.1971+67_1972-74dupGTGTGTGTGTGTGT	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	16/26			chr15	TogoVar
AP3B2_chr15_82654281_82714875	82700397	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp1 HG00544.hp1 others(93): Show HG00140.hp1 HG00323.hp1 HG00544.hp1 HG00639.hp2 HG00673.hp1 HG00741.hp1 HG01070.hp2 HG01106.hp2 HG01257.hp2 HG01261.hp1 HG01346.hp1 HG01496.hp2 HG01516.hp1 HG01517.hp1 HG01952.hp1 HG01981.hp1 HG01993.hp1 HG02004.hp2 HG02056.hp2 HG02071.hp1 HG02074.hp1 HG02074.hp2 HG02080.hp1 HG02129.hp1 HG02132.hp1 HG02148.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02273.hp1 HG02293.hp1 HG02300.hp2 HG02523.hp1 HG02922.hp1 HG02922.hp2 HG03041.hp2 HG03209.hp2 HG03453.hp1 HG03471.hp2 HG03579.hp2 HG03942.hp2 HG04115.hp1 NA18522.hp1 NA18941.hp1 NA18942.hp2 NA18945.hp2 NA18946.hp2 NA18947.hp1 NA18947.hp2 NA18948.hp2 NA18950.hp1 NA18950.hp2 NA18954.hp2 NA18955.hp2 NA18962.hp1 NA18962.hp2 NA18963.hp2 NA18964.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18971.hp2 NA18972.hp2 NA18973.hp2 NA18979.hp1 NA18980.hp2 NA18983.hp2 NA18986.hp2 NA18987.hp1 NA18988.hp2 NA18989.hp1 NA18997.hp2 NA18999.hp1 NA19001.hp1 NA19007.hp1 NA19009.hp2 NA19011.hp1 NA19012.hp1 NA19012.hp2 NA19054.hp2 NA19057.hp1 NA19060.hp2 NA19064.hp1 NA19066.hp1 NA19074.hp2 NA19082.hp2 NA19084.hp1 NA19084.hp2 NA19085.hp2 NA19088.hp1 NA19088.hp2 NA19091.hp2 NA19240.hp1 NA20805.hp1 NA20805.hp2 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0007 a0001c0013 others(2): Show a0001c0001 a0001c0007 a0001c0013 a0001c0015 a0003c0004	a0001c0001t0001 a0001c0007t0001 a0001c0013t0001 others(2): Show a0001c0001t0001 a0001c0007t0001 a0001c0013t0001 a0001c0015t0001 a0003c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0027 others(90): Show a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0083 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0113 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0001g0124 a0001c0001t0001g0125 a0001c0001t0001g0127 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0162 a0001c0001t0001g0170 a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0223 a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 a0001c0001t0001g0230 a0001c0001t0001g0231 a0001c0001t0001g0232 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0239 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0317 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0001g0332 a0001c0007t0001g0111 a0001c0007t0001g0114 a0001c0013t0001g0212 a0001c0015t0001g0117 a0003c0004t0001g0115 a0003c0004t0001g0116 a0003c0004t0001g0126	96	368	0.2609	14	c.113 others(31): Show c.113+9183_113+9196dupAAAAAAAAAAAAAA	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	1/26			chr15	TogoVar
AP3D1_chr19_2095988_2156566	2104363	C C	CACCGAGA others(7): Show CACCGAGATGCCGAA	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.3553-2096_3553-2095insTTCGGCATCTCGGT	AP3D1	ENSG00000065000.20	transcript	ENST00000643116.3	protein_coding	31/31			chr19	TogoVar
AP3M2_chr8_42148063_42176183	42166591	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp2 HG02080.hp1 others(1): Show HG00639.hp1 HG00639.hp2 HG02080.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0002 a0001c0001t0018	a0001c0001t0002g0017 a0001c0001t0018g0017 a0001c0001t0002g0017 a0001c0001t0018g0017	4	392	0.0102	14	c.804 others(29): Show c.804-567_804-554dupAAAAAAAAAAAAAA	AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
AP3S1_chr5_115836935_115919081	115868982	G G	GGAGGGAG others(7): Show GGAGGGAGGGAGGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01256.hp1 HG01258.hp2 others(6): Show HG00099.hp1 HG01256.hp1 HG01258.hp2 HG02486.hp2 HG02615.hp1 HG02896.hp1 HG03239.hp1 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0001 a0001c0001t0003 a0001c0001t0004	a0001c0001t0001g0012 a0001c0001t0001g0128 a0001c0001t0001g0129 others(5): Show a0001c0001t0001g0012 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0199 a0001c0001t0001g0209 a0001c0001t0003g0020 a0001c0001t0003g0022 a0001c0001t0004g0197	9	378	0.0238	14	c.162 others(31): Show c.162-1032_162-1031insGGAGGGAGGGAGAG	AP3S1	ENSG00000177879.17	transcript	ENST00000316788.12	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr5	TogoVar
AP3S2_chr15_89825599_89898994	89858523	G G	GAGAGAAA others(7): Show GAGAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02273.hp1 HG02280.hp1 others(2): Show HG01361.hp1 HG02273.hp1 HG02280.hp1 HG02698.hp2 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 others(2): Show a0001c0001t0002 a0001c0001t0009 a0001c0001t0010 a0001c0001t0028 a0001c0001t0039	a0001c0001t0002g0016 a0001c0001t0009g0308 a0001c0001t0010g0052 others(2): Show a0001c0001t0002g0016 a0001c0001t0009g0308 a0001c0001t0010g0052 a0001c0001t0028g0139 a0001c0001t0039g0064	5	312	0.0160	14	c.345 others(33): Show c.345+12951_345+12952insTTCTTTCTTTCTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP3S2_chr15_89825599_89898994	89858523	G G	GAGAGAGA others(7): Show GAGAGAGAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0049	1	312	0.0032	14	c.345 others(33): Show c.345+12951_345+12952insTTCTTTCTCTCTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP4B1_chr1_113889194_113909799	113907204	G G	GTTTTTTT others(7): Show GTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0005 a0002c0002t0003g0005	1	434	0.0023	14	c.-25 others(25): Show c.-2501_-2488dupAAAAAAAAAAAAAA	AP4B1	ENSG00000134262.14	transcript	ENST00000369569.6	protein_coding		2406		chr1	TogoVar
AP4E1_chr15_50903683_51010895	50927937	A A	ATTTGCAG others(7): Show ATTTGCAGAAATATT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0003 a0002c0003t0003	a0002c0003t0003g0167 a0002c0003t0003g0167	1	392	0.0026	14	c.543 others(31): Show c.543-1071_543-1070insTTGCAGAAATATTT	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	5/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50962889	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02809.hp1 NA18999.hp2 HG01109.hp1 HG02809.hp1 NA18999.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0005 a0001c0001t0004 a0001c0001t0005	a0001c0001t0004g0353 a0001c0001t0005g0331 a0001c0001t0005g0340 a0001c0001t0004g0353 a0001c0001t0005g0331 a0001c0001t0005g0340	3	392	0.0077	14	c.185 others(33): Show c.1851+4109_1851+4122dupAAAAAAAAAAAAAA	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50964955	C C	CCACACAC others(7): Show CCACACACACACACA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00558.hp2 HG00621.hp1 others(32): Show HG00323.hp2 HG00558.hp2 HG00621.hp1 HG01070.hp2 HG01123.hp1 HG01175.hp2 HG01255.hp2 HG01257.hp1 HG01346.hp2 HG01358.hp2 HG01496.hp2 HG01891.hp1 HG01952.hp2 HG01981.hp2 HG02300.hp2 HG02615.hp2 HG03041.hp1 HG03239.hp2 HG03491.hp2 NA18950.hp1 NA18953.hp1 NA18959.hp2 NA18962.hp2 NA18965.hp2 NA18971.hp2 NA18982.hp2 NA18992.hp2 NA19006.hp1 NA19056.hp1 NA19066.hp2 NA19068.hp1 NA19072.hp2 NA19074.hp1 NA19086.hp1 NA21309.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0005	a0001c0001 a0002c0002 a0002c0003 others(2): Show a0001c0001 a0002c0002 a0002c0003 a0003c0004 a0005c0007	a0001c0001t0004 a0001c0001t0025 a0002c0002t0002 others(4): Show a0001c0001t0004 a0001c0001t0025 a0002c0002t0002 a0002c0002t0016 a0002c0003t0001 a0003c0004t0007 a0005c0007t0011	a0001c0001t0004g0365 a0001c0001t0004g0372 a0001c0001t0004g0378 others(32): Show a0001c0001t0004g0365 a0001c0001t0004g0372 a0001c0001t0004g0378 a0001c0001t0004g0385 a0001c0001t0025g0371 a0002c0002t0002g0009 a0002c0002t0002g0010 a0002c0002t0002g0011 a0002c0002t0002g0041 a0002c0002t0002g0045 a0002c0002t0002g0046 a0002c0002t0002g0063 a0002c0002t0002g0066 a0002c0002t0002g0069 a0002c0002t0002g0073 a0002c0002t0002g0074 a0002c0002t0002g0076 a0002c0002t0002g0079 a0002c0002t0002g0081 a0002c0002t0002g0082 a0002c0002t0002g0083 a0002c0002t0002g0088 a0002c0002t0002g0105 a0002c0002t0002g0106 a0002c0002t0002g0108 a0002c0002t0002g0117 a0002c0002t0002g0118 a0002c0002t0002g0120 a0002c0002t0002g0125 a0002c0002t0016g0116 a0002c0003t0001g0071 a0002c0003t0001g0078 a0003c0004t0007g0024 a0005c0007t0011g0184 a0005c0007t0011g0185	35	392	0.0893	14	c.185 others(33): Show c.1852-3284_1852-3271dupACACACACACACAC	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar

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