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
ANO7_chr2_241183677_241230976	241218158	C C	CAGCGGGG others(14): Show CAGCGGGGGCGCGCAGGGGCGG	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00639.hp1 HG01358.hp2 others(34): Show HG00544.hp1 HG00639.hp1 HG01358.hp2 HG01516.hp1 HG01928.hp2 HG01975.hp1 HG02109.hp2 HG02683.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG03834.hp1 HG03834.hp2 HG03942.hp1 HG04199.hp2 NA18612.hp2 NA18943.hp2 NA18945.hp1 NA18946.hp1 NA18947.hp1 NA18952.hp2 NA18971.hp1 NA18974.hp2 NA18981.hp1 NA18994.hp1 NA18999.hp1 NA19000.hp2 NA19010.hp1 NA19043.hp2 NA19054.hp1 NA19055.hp2 NA19068.hp1 NA19081.hp2 NA19085.hp1 NA19091.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0003 a0011 others(2): Show a0001 a0003 a0011 a0017 a0028	a0001c0003 a0003c0004 a0003c0013 others(3): Show a0001c0003 a0003c0004 a0003c0013 a0011c0012 a0017c0035 a0028c0076	a0001c0003t0014 a0003c0004t0002 a0003c0004t0010 others(8): Show a0001c0003t0014 a0003c0004t0002 a0003c0004t0010 a0003c0004t0029 a0003c0013t0002 a0003c0013t0005 a0003c0013t0010 a0011c0012t0001 a0011c0012t0002 a0017c0035t0002 a0028c0076t0002	a0001c0003t0014g0040 a0003c0004t0002g0002 a0003c0004t0002g0269 others(32): Show a0001c0003t0014g0040 a0003c0004t0002g0002 a0003c0004t0002g0269 a0003c0004t0002g0272 a0003c0004t0002g0274 a0003c0004t0002g0275 a0003c0004t0002g0276 a0003c0004t0002g0282 a0003c0004t0002g0285 a0003c0004t0002g0287 a0003c0004t0002g0289 a0003c0004t0002g0291 a0003c0004t0010g0076 a0003c0004t0010g0079 a0003c0004t0010g0100 a0003c0004t0010g0103 a0003c0004t0010g0104 a0003c0004t0029g0290 a0003c0013t0002g0042 a0003c0013t0002g0053 a0003c0013t0002g0066 a0003c0013t0002g0114 a0003c0013t0002g0226 a0003c0013t0005g0052 a0003c0013t0010g0117 a0011c0012t0001g0127 a0011c0012t0001g0136 a0011c0012t0001g0321 a0011c0012t0002g0243 a0011c0012t0002g0309 a0011c0012t0002g0312 a0011c0012t0002g0325 a0011c0012t0002g0326 a0017c0035t0002g0343 a0028c0076t0002g0195	37	396	0.0934	21	c.217 others(36): Show c.2179-50_2179-30dupGCGCAGGGGCGGAGCGGGGGC	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	20/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANXA10_chr4_168087537_168192736	168156171	T T	TTATATTA others(14): Show TTATATTATATATTATATATTA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG03139.hp1 NA18970.hp2 HG02723.hp2 HG03139.hp1 NA18970.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0040 a0002c0002t0001g0161 a0002c0002t0001g0232 a0002c0002t0001g0040 a0002c0002t0001g0161 a0002c0002t0001g0232	3	284	0.0106	21	c.196 others(38): Show c.196-6351_196-6331dupTATATATTATATATTATATAT	ANXA10	ENSG00000109511.12	transcript	ENST00000359299.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA2R_chr5_43034371_43045319	43044121	A A	ATATTATA others(14): Show ATATTATATATAAAATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	296	0.0034	21	c.-40 others(32): Show c.-4076_-4075insATATATATTTTATATATAATA	ANXA2R	ENSG00000177721.5	transcript	ENST00000616064.2	protein_coding		3803		chr5	TogoVar
ANXA3_chr4_78546770_78615447	78578330	A A	AGAGAGAG others(14): Show AGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02135.hp1 HG01243.hp1 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0097 a0001c0001t0002g0206 a0001c0001t0001g0097 a0001c0001t0002g0206	2	330	0.0061	21	c.104 others(36): Show c.104-697_104-696insGAGAGAGAGAGAGAGAGAGAG	ANXA3	ENSG00000138772.13	transcript	ENST00000264908.11	protein_coding	3/12			chr4	TogoVar
ANXA3_chr4_78546770_78615447	78593625	C C	CATTATTA others(14): Show CATTATTATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02258.hp1 HG02572.hp2 others(3): Show HG02145.hp2 HG02258.hp1 HG02572.hp2 HG02809.hp1 NA18906.hp2 NA20129.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0004 a0002c0003t0006 a0002c0003t0004 a0002c0003t0006	a0002c0003t0004g0048 a0002c0003t0004g0049 a0002c0003t0004g0150 others(2): Show a0002c0003t0004g0048 a0002c0003t0004g0049 a0002c0003t0004g0150 a0002c0003t0006g0005 a0002c0003t0006g0137	6	330	0.0182	21	c.484 others(38): Show c.484-1749_484-1729dupATTATTATTATTATTATTATT	ANXA3	ENSG00000138772.13	transcript	ENST00000264908.11	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANXA4_chr2_69737134_69832112	69775991	T T	TTATTTAT others(14): Show TTATTTATTTATTTATTTATTG	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0004 a0003c0003t0004	a0003c0003t0004g0025 a0003c0003t0004g0025	1	346	0.0029	21	c.-46 others(38): Show c.-46-5529_-46-5528insTATTTATTTATTTATTTATTG	ANXA4	ENSG00000196975.16	transcript	ENST00000394295.6	protein_coding	1/12			chr2	TogoVar
ANXA4_chr2_69737134_69832112	69785551	T T	TTGATGAT others(14): Show TTGATGATGATGATGATGATGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG02280.hp2 HG02622.hp1 HG00423.hp2 HG02280.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0011 a0001c0001t0005 a0001c0001t0011	a0001c0001t0005g0150 a0001c0001t0011g0130 a0001c0001t0011g0212 a0001c0001t0005g0150 a0001c0001t0011g0130 a0001c0001t0011g0212	3	346	0.0087	21	c.10- others(36): Show c.10-2494_10-2474dupATGATGATGATGATGATGATG	ANXA4	ENSG00000196975.16	transcript	ENST00000394295.6	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANXA4_chr2_69737134_69832112	69830305	G G	GGGGGGGC others(14): Show GGGGGGGCGGGGGGGGGGGGGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0075 a0002c0002t0002g0075	1	346	0.0029	21	c.47 others(32): Show c.4790_*4791insGGGGGGCGGGGGGGGGGGGGC	ANXA4	ENSG00000196975.16	transcript	ENST00000394295.6	protein_coding		3194		chr2	TogoVar
AOAH_chr7_36507941_36729494	36517206	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02922.hp2 NA19030.hp2 HG02647.hp2 HG02922.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0001 a0001c0003t0001 a0002c0002t0001 a0001c0001t0001 a0001c0003t0001 a0002c0002t0001	a0001c0001t0001g0073 a0001c0003t0001g0253 a0002c0002t0001g0194 a0001c0001t0001g0073 a0001c0003t0001g0253 a0002c0002t0001g0194	3	306	0.0098	21	c.160 others(40): Show c.1600-3827_1600-3826insAGAAAGAAAGAAAGAAAGAAA	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	20/20			chr7	TogoVar
AOAH_chr7_36507941_36729494	36517214	C C	CTTTCTTT others(14): Show CTTTCTTTCTTTCTTTCTTCTT	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	306	0.0033	21	c.160 others(40): Show c.1600-3835_1600-3834insAAGAAGAAAGAAAGAAAGAAA	AOAH	ENSG00000136250.12	transcript	ENST00000617537.5	protein_coding	20/20			chr7	TogoVar
AOPEP_chr9_94721699_95092159	94743193	A A	AGAAGAAG others(14): Show AGAAGAAGAAGAGGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0018	1	182	0.0055	21	c.-13 others(42): Show c.-135-16448_-135-16447insAGAGGAAGAAGAGGAAGAAGA	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
AOPEP_chr9_94721699_95092159	94743235	A A	AGAAGAAG others(14): Show AGAAGAAGAGGAAGAAGAAGAG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0005 a0008c0011t0001g0005	1	182	0.0055	21	c.-13 others(42): Show c.-135-16397_-135-16396insAGAGGAAGAAGAGGAAGAAGA	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
AOPEP_chr9_94721699_95092159	94765439	A A	AAATAATA others(14): Show AAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0009 a0009	a0009c0010 a0009c0010	a0009c0010t0001 a0009c0010t0001	a0009c0010t0001g0144 a0009c0010t0001g0145 a0009c0010t0001g0144 a0009c0010t0001g0145	2	182	0.0110	21	c.797 others(38): Show c.797+4880_797+4900dupTAATAATAATAATAATAATAA	AOPEP	ENSG00000148120.19	transcript	ENST00000375315.8	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr9	TogoVar
AOX1_chr2_200581014_200676495	200588726	C C	CTTTTTTT others(14): Show CTTTTTTTTTTCTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0205 a0001c0001t0001g0205	1	370	0.0027	21	c.45+ others(36): Show c.45+2583_45+2584insCTTTTTTTTTTTTTTTTTTTT	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200588726	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01261.hp1 HG01496.hp2 others(12): Show HG01243.hp2 HG01261.hp1 HG01496.hp2 HG02027.hp1 HG02559.hp1 HG02647.hp1 HG02895.hp2 HG02897.hp2 HG03453.hp1 HG03492.hp2 HG03942.hp1 HG04199.hp1 NA18906.hp1 NA18943.hp2 NA18978.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0014 a0002c0002 others(1): Show a0001c0001 a0001c0014 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0014t0001 a0002c0002t0003 a0003c0003t0004	a0001c0001t0001g0003 a0001c0001t0001g0270 a0001c0001t0001g0271 others(11): Show a0001c0001t0001g0003 a0001c0001t0001g0270 a0001c0001t0001g0271 a0001c0001t0001g0273 a0001c0001t0001g0275 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0002g0272 a0001c0001t0002g0352 a0001c0001t0002g0354 a0001c0014t0001g0353 a0002c0002t0003g0274 a0003c0003t0004g0276	15	370	0.0405	21	c.45+ others(36): Show c.45+2574_45+2594dupTTTTTTTTTTTTTTTTTTTTT	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	1/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200657165	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA18963.hp2 NA18981.hp1 NA18955.hp2 NA18963.hp2 NA18981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0349 a0001c0001t0001g0336 a0001c0001t0001g0339 a0001c0001t0001g0349	3	370	0.0081	21	c.317 others(38): Show c.3171+229_3171+230insAAAAAAAAAAAAATATATATA	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AOX1_chr2_200581014_200676495	200657165	A A	AAAAAAAA others(14): Show AAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03942.hp1 NA18945.hp1 NA18980.hp1 others(3): Show HG03942.hp1 NA18945.hp1 NA18980.hp1 NA18999.hp1 NA19065.hp1 NA19070.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0002 a0001c0001t0001 a0001c0001t0002 a0002c0002t0002	a0001c0001t0001g0282 a0001c0001t0001g0312 a0001c0001t0001g0323 others(3): Show a0001c0001t0001g0282 a0001c0001t0001g0312 a0001c0001t0001g0323 a0001c0001t0002g0311 a0001c0001t0002g0352 a0002c0002t0002g0098	6	370	0.0162	21	c.317 others(38): Show c.3171+229_3171+230insAAAAAAAAAAATATATATATA	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(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01517.hp1 HG01517.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0250 a0003c0003t0001g0250	1	370	0.0027	21	c.317 others(38): Show c.3171+254_3171+255insATATATATATTTTTTTTTTTT	AOX1	ENSG00000138356.14	transcript	ENST00000374700.7	protein_coding	27/34		INFO_REALIGN_3_PRIME	chr2	TogoVar
AP1M1_chr19_16192911_16250906	16215194	C C	CAGGGGCG others(14): Show CAGGGGCGGGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0253 a0001c0001t0004g0253	1	308	0.0033	21	c.546 others(38): Show c.546+6017_546+6018insAGGGGCGGGGGGGGGGGGGGG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	5/11			chr19	TogoVar
AP1M1_chr19_16192911_16250906	16215210	G G	GGGGGGGG others(14): Show GGGGGGGGGGGGGGAGGGGGGA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG00544.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0116 a0001c0001t0116	a0001c0001t0116g0251 a0001c0001t0116g0251	1	308	0.0033	21	c.546 others(38): Show c.546+6034_546+6035insGGGGGGGGGGGGAGGGGGGAG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
AP1M1_chr19_16192911_16250906	16215223	G G	GGGGGGGG others(14): Show GGGGGGGGGGGGGGGGAGGGGT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0060 a0001c0002t0060	a0001c0002t0060g0178 a0001c0002t0060g0178	1	308	0.0033	21	c.546 others(38): Show c.546+6050_546+6051insGGGGGGGGGGGAGGGGTGGGG	AP1M1	ENSG00000072958.9	transcript	ENST00000291439.8	protein_coding	5/11		INFO_REALIGN_3_PRIME	chr19	TogoVar
AP1M2_chr19_10567671_10592312	10570547	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02055.hp1 HG02280.hp1 HG03098.hp1 others(3): Show HG02055.hp1 HG02280.hp1 HG03098.hp1 HG03195.hp1 NA18906.hp2 NA19085.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0002g0082 others(3): Show a0001c0002t0001g0095 a0001c0002t0001g0097 a0001c0002t0002g0082 a0001c0002t0002g0114 a0001c0002t0002g0122 a0001c0002t0002g0127	6	394	0.0152	21	c.25 others(32): Show c.2518_*2519insTTTTTTTTTTTTTTTTTTTTT	AP1M2	ENSG00000129354.12	transcript	ENST00000250244.11	protein_coding		2123		chr19	TogoVar
AP1S2_chrX_15820806_15859813	15834479	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA18979.hp1 HG02145.hp1 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0139 a0001c0001t0001g0170 a0001c0001t0001g0139 a0001c0001t0001g0170	2	318	0.0063	21	c.427 others(38): Show c.427-6280_427-6279insTATATATATATATATATATAT	AP1S2	ENSG00000182287.15	transcript	ENST00000672987.1	protein_coding	4/5			chrX	TogoVar
AP1S3_chr2_223750326_223842582	223832363	A A	AAACAAAC others(14): Show AAACAAACAAAACGAGTGATAG	intron_variant intron_variant	MODIFIER	NA18747.hp2 NA18747.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0055 a0001c0001t0055	a0001c0001t0055g0172 a0001c0001t0055g0172	1	340	0.0029	21	c.3+5 others(34): Show c.3+5064_3+5084dupCTATCACTCGTTTTGTTTGTT	AP1S3	ENSG00000152056.18	transcript	ENST00000396654.7	protein_coding	1/4			chr2	TogoVar
AP2A2_chr11_920870_1017240	935603	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02083.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0184 a0001c0002t0003g0184	1	268	0.0037	21	c.67+ others(36): Show c.67+9517_67+9537dupTTTTTTTTTTTTTTTTTTTTT	AP2A2	ENSG00000183020.15	transcript	ENST00000448903.7	protein_coding	1/21		INFO_REALIGN_3_PRIME	chr11	TogoVar
AP2B1_chr17_35582322_35731413	35720573	A A	ATATATAT others(14): Show ATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	NA18984.hp2 NA18984.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	372	0.0027	21	c.278 others(40): Show c.2782-3051_2782-3050insATATATATATATATATATTTT	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21		INFO_REALIGN_3_PRIME	chr17	TogoVar
AP2B1_chr17_35582322_35731413	35720574	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0295 a0001c0002t0001g0295	1	372	0.0027	21	c.278 others(40): Show c.2782-3051_2782-3050insATATATATATATATATATATA	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding	21/21			chr17	TogoVar
AP2B1_chr17_35582322_35731413	35727022	C C	CGCCAAGC others(14): Show CGCCAAGCCTAGGTTCTGATAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00280.hp1 others(25): Show HG00099.hp2 HG00140.hp2 HG00280.hp1 HG00639.hp1 HG00741.hp2 HG01168.hp1 HG01256.hp2 HG01258.hp1 HG01515.hp2 HG01952.hp1 HG02004.hp2 HG02074.hp2 HG02273.hp1 HG02602.hp1 HG02698.hp1 HG03017.hp1 HG03490.hp2 HG03492.hp2 HG03654.hp2 HG03688.hp1 HG03831.hp2 HG03942.hp2 NA18971.hp1 NA18989.hp1 NA19063.hp2 NA19085.hp1 NA20752.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0020 a0001c0001t0021 a0001c0001t0005 a0001c0001t0020 a0001c0001t0021	a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0005g0132 others(25): Show a0001c0001t0005g0130 a0001c0001t0005g0131 a0001c0001t0005g0132 a0001c0001t0005g0133 a0001c0001t0005g0134 a0001c0001t0005g0135 a0001c0001t0005g0136 a0001c0001t0005g0138 a0001c0001t0005g0139 a0001c0001t0005g0140 a0001c0001t0005g0141 a0001c0001t0005g0142 a0001c0001t0005g0143 a0001c0001t0005g0144 a0001c0001t0005g0145 a0001c0001t0005g0146 a0001c0001t0005g0147 a0001c0001t0005g0148 a0001c0001t0005g0149 a0001c0001t0005g0150 a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0005g0154 a0001c0001t0005g0155 a0001c0001t0005g0156 a0001c0001t0005g0157 a0001c0001t0020g0153 a0001c0001t0021g0137	28	372	0.0753	21	c.33 others(32): Show c.3323_*3324insGCCAAGCCTAGGTTCTGATAA	AP2B1	ENSG00000006125.18	transcript	ENST00000610402.5	protein_coding		610		chr17	TogoVar
AP2S1_chr19_46833167_46855846	46833431	A A	AGAAGAGA others(14): Show AGAAGAGAAGAGAAGAGAAGAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0228	1	424	0.0024	21	c.50 others(32): Show c.5015_*5016insATCTTCTCTTCTCTTCTCTTC	AP2S1	ENSG00000042753.12	transcript	ENST00000263270.11	protein_coding		4735		chr19	TogoVar
AP3B1_chr5_77997326_78299698	78126504	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0142 a0001c0012t0001g0142	1	226	0.0044	21	c.196 others(40): Show c.1968+1505_1968+1525dupTTTTTTTTTTTTTTTTTTTTT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	17/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(14): Show ATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0155 a0001c0002t0002g0155	1	226	0.0044	21	c.787 others(40): Show c.787-12109_787-12108insAAAAAAATATATATATATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(14): Show ATATATATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0137 a0001c0002t0002g0137	1	226	0.0044	21	c.787 others(40): Show c.787-12109_787-12108insAAAAAAAAATATATATATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78193770	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0002 a0008c0011t0002	a0008c0011t0002g0165 a0008c0011t0002g0165	1	226	0.0044	21	c.787 others(40): Show c.787-12109_787-12108insAAAAAAAAAAATATATATATA	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	7/26			chr5	TogoVar
AP3B1_chr5_77997326_78299698	78279907	A A	AATATATA others(14): Show AATATATATATATGACTTAAAT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG01168.hp2 others(17): Show HG00558.hp1 HG00642.hp1 HG01168.hp2 HG01358.hp2 HG01934.hp2 HG01981.hp2 HG02071.hp1 HG02135.hp2 HG02280.hp2 HG02523.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp2 NA18970.hp2 NA18979.hp2 NA18982.hp2 NA19063.hp2 NA19068.hp1 NA19081.hp1 NA20752.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0002c0003t0001 a0001c0001t0001 a0002c0003t0001	a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 others(17): Show a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0202 a0001c0001t0001g0207 a0001c0001t0001g0208 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0001t0001g0222 a0001c0001t0001g0224 a0002c0003t0001g0218 a0002c0003t0001g0219	20	226	0.0885	21	c.129 others(40): Show c.129-12313_129-12312insATTTAAGTCATATATATATAT	AP3B1	ENSG00000132842.15	transcript	ENST00000255194.11	protein_coding	1/26			chr5	TogoVar
AP3B2_chr15_82654281_82714875	82700397	C C	CTTTTTTT others(14): Show CTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00733.hp1 HG00735.hp1 others(28): Show HG00280.hp1 HG00733.hp1 HG00735.hp1 HG00741.hp2 HG01074.hp1 HG01106.hp1 HG01169.hp2 HG01175.hp1 HG01258.hp1 HG01358.hp1 HG01884.hp1 HG01891.hp1 HG01928.hp2 HG01978.hp1 HG01981.hp2 HG01993.hp2 HG02004.hp1 HG02015.hp1 HG02083.hp1 HG02083.hp2 HG02293.hp2 HG02486.hp1 HG06807.hp2 NA18970.hp2 NA18975.hp2 NA18982.hp1 NA19007.hp2 NA19009.hp1 NA20905.hp1 NA20905.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0010 a0001c0011 a0001c0001 a0001c0010 a0001c0011	a0001c0001t0001 a0001c0001t0003 a0001c0010t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0010t0001 a0001c0011t0005	a0001c0001t0001g0002 a0001c0001t0001g0040 a0001c0001t0001g0049 others(27): Show a0001c0001t0001g0002 a0001c0001t0001g0040 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0242 a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0344 a0001c0001t0001g0345 a0001c0001t0001g0346 a0001c0001t0001g0347 a0001c0001t0001g0348 a0001c0001t0001g0349 a0001c0001t0003g0014 a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0010t0001g0050 a0001c0011t0005g0173	31	368	0.0842	21	c.113 others(38): Show c.113+9196_113+9197insAAAAAAAAAAAAAAAAAAAAA	AP3B2	ENSG00000103723.17	transcript	ENST00000535359.6	protein_coding	1/26			chr15	TogoVar
AP3M2_chr8_42148063_42176183	42160005	G G	GGAAAGAT others(14): Show GGAAAGATAAAATGTGTCCTAC	intron_variant intron_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0072 a0001c0001t0006g0072	1	392	0.0026	21	c.445 others(38): Show c.445+1894_445+1914dupGAAAGATAAAATGTGTCCTAC	AP3M2	ENSG00000070718.13	transcript	ENST00000396926.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr8	TogoVar
AP3S2_chr15_89825599_89898994	89858523	G G	GAGAGAGA others(14): Show GAGAGAGAGAGAGAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0050 a0001c0001t0001g0050	1	312	0.0032	21	c.345 others(40): Show c.345+12951_345+12952insTTCTTTCTTCTCTCTCTCTCT	AP3S2	ENSG00000157823.17	transcript	ENST00000336418.9	protein_coding	4/5			chr15	TogoVar
AP4E1_chr15_50903683_51010895	50962889	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02897.hp1 HG03130.hp2 HG02622.hp2 HG02897.hp1 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0358 a0001c0001t0009g0319 a0001c0001t0009g0320 a0001c0001t0004g0358 a0001c0001t0009g0319 a0001c0001t0009g0320	3	392	0.0077	21	c.185 others(40): Show c.1851+4102_1851+4122dupAAAAAAAAAAAAAAAAAAAAA	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20		INFO_REALIGN_3_PRIME	chr15	TogoVar
AP4E1_chr15_50903683_51010895	50964955	C C	CACACACA others(14): Show CACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG03710.hp2 HG01167.hp1 HG03710.hp2	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0017 a0002c0003t0006 a0002c0002t0017 a0002c0003t0006	a0002c0002t0017g0054 a0002c0003t0006g0186 a0002c0002t0017g0054 a0002c0003t0006g0186	2	392	0.0051	21	c.185 others(40): Show c.1852-3308_1852-3307insACACACACACACACACACACA	AP4E1	ENSG00000081014.11	transcript	ENST00000261842.10	protein_coding	14/20			chr15	TogoVar
AP5S1_chr20_3815547_3833838	3831679	A A	ATATATAT others(14): Show ATATATATATATTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18522.hp2 NA19086.hp2 NA18522.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0031 a0001c0001t0002 a0001c0001t0031	a0001c0001t0002g0002 a0001c0001t0031g0015 a0001c0001t0002g0002 a0001c0001t0031g0015	2	412	0.0049	21	c.73 others(32): Show c.7382_*7383insTATATATATATTTTTTTTTTT	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2842		chr20	TogoVar
AP5S1_chr20_3815547_3833838	3831679	A A	ATATATAT others(14): Show ATATATATATTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0059 a0001c0001t0059	a0001c0001t0059g0010 a0001c0001t0059g0010	1	412	0.0024	21	c.73 others(32): Show c.7382_*7383insTATATATATTTTTTTTTTTTT	AP5S1	ENSG00000125843.11	transcript	ENST00000615891.2	protein_coding		2842		chr20	TogoVar
APAF1_chr12_98640290_98740433	98643812	G G	GTTTTCTT others(14): Show GTTTTCTTTTTTTTTTTTTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0323 a0001c0001t0002g0323	1	366	0.0027	21	c.-20 others(32): Show c.-2065_-2064insTTTTCTTTTTTTTTTTTTTTC	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding		1477		chr12	TogoVar
APAF1_chr12_98640290_98740433	98653687	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	366	0.0027	21	c.526 others(38): Show c.526+4003_526+4004insTATATATATATATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26			chr12	TogoVar
APAF1_chr12_98640290_98740433	98653691	A A	AAAAATAT others(14): Show AAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0032 a0001c0001t0001g0032	1	366	0.0027	21	c.526 others(38): Show c.526+4008_526+4009insAAATATATATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26		INFO_REALIGN_3_PRIME	chr12	TogoVar
APAF1_chr12_98640290_98740433	98653691	A A	ATATATAT others(14): Show ATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02004.hp1 HG02004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0067	1	366	0.0027	21	c.526 others(38): Show c.526+4007_526+4008insTATATATATATATATATATAT	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	4/26			chr12	TogoVar
APAF1_chr12_98640290_98740433	98665279	T T	TATATATA others(14): Show TATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01258.hp2 NA18978.hp1 HG01258.hp2 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0004 a0001c0001t0003 a0001c0001t0004	a0001c0001t0003g0139 a0001c0001t0004g0180 a0001c0001t0003g0139 a0001c0001t0004g0180	2	366	0.0055	21	c.956 others(36): Show c.956-274_956-273insATATATATATATATATATATA	APAF1	ENSG00000120868.14	transcript	ENST00000551964.6	protein_coding	7/26			chr12	TogoVar
APBA2_chr15_28880974_29123315	28908315	G G	GTTTTTTT others(14): Show GTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG02976.hp1 HG03130.hp1 others(1): Show HG01257.hp2 HG02976.hp1 HG03130.hp1 HG03195.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0004 a0001c0001t0029 a0002c0002t0007 others(1): Show a0001c0001t0004 a0001c0001t0029 a0002c0002t0007 a0002c0002t0011	a0001c0001t0004g0045 a0001c0001t0029g0046 a0002c0002t0007g0115 others(1): Show a0001c0001t0004g0045 a0001c0001t0029g0046 a0002c0002t0007g0115 a0002c0002t0011g0123	4	204	0.0196	21	c.-20 others(42): Show c.-204-13312_-204-13311insTTTTTTTTTTTTTTTTTTTTT	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBA2_chr15_28880974_29123315	28949063	T T	TGAGGAGA others(14): Show TGAGGAGAACACACCGAGAAGG	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0188 a0001c0001t0039g0188	1	204	0.0049	21	c.-95 others(40): Show c.-95+27322_-95+27342dupACACACCGAGAAGGGAGGAGA	APBA2	ENSG00000034053.15	transcript	ENST00000683413.1	protein_coding	2/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
APBB1IP_chr10_26433341_26572803	26516543	C C	CAAAAAAA others(14): Show CAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02717.hp1 HG02896.hp2 others(4): Show HG01884.hp2 HG02717.hp1 HG02896.hp2 HG02976.hp2 NA18522.hp1 NA18981.hp1 NA20129.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0001c0001t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0001g0009 a0001c0001t0001g0113 a0001c0001t0001g0129 others(4): Show a0001c0001t0001g0009 a0001c0001t0001g0113 a0001c0001t0001g0129 a0001c0001t0001g0196 a0001c0001t0002g0344 a0002c0002t0001g0144 a0002c0002t0001g0194	7	358	0.0196	21	c.813 others(38): Show c.813+2901_813+2902insAAAAAAAAAAAAAAAAAAAAA	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar
APBB1IP_chr10_26433341_26572803	26524955	C C	CTTTCTTT others(14): Show CTTTCTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00408.hp2 HG00544.hp1 others(9): Show HG00280.hp2 HG00408.hp2 HG00544.hp1 HG01069.hp2 HG01978.hp1 HG02155.hp2 HG02630.hp1 HG03490.hp2 NA18939.hp2 NA18980.hp2 NA18981.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0049 others(9): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0049 a0001c0001t0001g0075 a0001c0001t0001g0082 a0001c0001t0001g0093 a0001c0001t0001g0118 a0001c0001t0001g0131 a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0002g0300 a0001c0001t0002g0314	12	358	0.0335	21	c.814 others(38): Show c.814-8481_814-8480insCTTTTTTTTTTTTTTTTTTTT	APBB1IP	ENSG00000077420.16	transcript	ENST00000376236.9	protein_coding	8/14		INFO_REALIGN_3_PRIME	chr10	TogoVar

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