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	status	chr	external
AGAP9_chr10_47496854_47528638	47503937	C C	CAAAAAAA others(9): Show CAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	206	0.0049	16	c.585 others(31): Show c.585+236_585+251dupTTTTTTTTTTTTTTTT	AGAP9	ENSG00000204172.12	transcript	ENST00000452145.6	protein_coding	7/7		chr10	TogoVar
AGBL1_chr15_86074871_86921156	86084833	T T	TATCCATC others(9): Show TATCCATCCATCCATCC	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG02602.hp1	a0002 a0002	a0002c0060 a0002c0060	a0002c0060t0004 a0002c0060t0004	a0002c0060t0004g0072 a0002c0060t0004g0072	1	132	0.0076	16	c.51+ others(31): Show c.51+4815_51+4830dupATCCATCCATCCATCC	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	1/22	INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86196868	T T	TGCGCGCG others(9): Show TGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0001 a0001c0010t0001	a0001c0010t0001g0119 a0001c0010t0001g0119	1	132	0.0076	16	c.489 others(35): Show c.489-28034_489-28033insGCGCGCGCGCGCGCGC	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	5/22	INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86196879	G G	GCGCGCGC others(9): Show GCGCGCGCGCGCACACA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0055 a0002c0005t0055	a0002c0005t0055g0033 a0002c0005t0055g0033	1	132	0.0076	16	c.489 others(35): Show c.489-28034_489-28033insGCGCGCGCGCACACAC	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	5/22	INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86298246	A A	AATATATA others(9): Show AATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG03540.hp1 HG03540.hp2 others(1): Show HG01081.hp2 HG03540.hp1 HG03540.hp2 NA20129.hp2	a0001 a0004 a0017 a0001 a0004 a0017	a0001c0002 a0001c0006 a0004c0031 others(1): Show a0001c0002 a0001c0006 a0004c0031 a0017c0025	a0001c0002t0001 a0001c0006t0045 a0004c0031t0015 others(1): Show a0001c0002t0001 a0001c0006t0045 a0004c0031t0015 a0017c0025t0065	a0001c0002t0001g0128 a0001c0006t0045g0044 a0004c0031t0015g0104 others(1): Show a0001c0002t0001g0128 a0001c0006t0045g0044 a0004c0031t0015g0104 a0017c0025t0065g0022	4	132	0.0303	16	c.237 others(35): Show c.2374+2857_2374+2872dupATATATATATATATAT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	17/22	INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86298246	A A	ATTATATA others(9): Show ATTATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG03579.hp1 NA19043.hp1 HG02896.hp2 HG03579.hp1 NA19043.hp1	a0001 a0018 a0001 a0018	a0001c0001 a0018c0038 a0001c0001 a0018c0038	a0001c0001t0006 a0001c0001t0009 a0018c0038t0013 a0001c0001t0006 a0001c0001t0009 a0018c0038t0013	a0001c0001t0006g0093 a0001c0001t0009g0099 a0018c0038t0013g0091 a0001c0001t0006g0093 a0001c0001t0009g0099 a0018c0038t0013g0091	3	132	0.0227	16	c.237 others(35): Show c.2374+2838_2374+2839insTTATATATATATATAT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	17/22		chr15	TogoVar
AGBL1_chr15_86074871_86921156	86386102	T T	TCCTCCTC others(9): Show TCCTCCTCCCCTCTCCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG03209.hp1 HG03579.hp1 HG01192.hp1 HG03209.hp1 HG03579.hp1	a0001 a0014 a0001 a0014	a0001c0001 a0001c0007 a0014c0043 a0001c0001 a0001c0007 a0014c0043	a0001c0001t0009 a0001c0007t0038 a0014c0043t0001 a0001c0001t0009 a0001c0007t0038 a0014c0043t0001	a0001c0001t0009g0099 a0001c0007t0038g0129 a0014c0043t0001g0121 a0001c0001t0009g0099 a0001c0007t0038g0129 a0014c0043t0001g0121	3	132	0.0227	16	c.237 others(37): Show c.2375-11205_2375-11190dupTCTCCCCCTCCTCCCC	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	17/22	INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86402187	G G	GTTATTTA others(9): Show GTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19030.hp1 NA20300.hp2 HG02145.hp1 NA19030.hp1 NA20300.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0032 a0004c0009 a0001c0001 a0001c0032 a0004c0009	a0001c0001t0001 a0001c0032t0009 a0004c0009t0003 a0001c0001t0001 a0001c0032t0009 a0004c0009t0003	a0001c0001t0001g0111 a0001c0032t0009g0108 a0004c0009t0003g0095 a0001c0001t0001g0111 a0001c0032t0009g0108 a0004c0009t0003g0095	3	132	0.0227	16	c.255 others(35): Show c.2555+4656_2555+4671dupATTTATTTATTTATTT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	18/22	INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86410807	G G	GATATATA others(9): Show GATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0055 a0001c0055	a0001c0055t0009 a0001c0055t0009	a0001c0055t0009g0064 a0001c0055t0009g0064	1	132	0.0076	16	c.255 others(37): Show c.2555+13281_2555+13296dupTATATATATATATATA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	18/22	INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86410839	T T	TATATATA others(9): Show TATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0003 a0003	a0003c0040 a0003c0040	a0003c0040t0004 a0003c0040t0004	a0003c0040t0004g0089 a0003c0040t0004g0089	1	132	0.0076	16	c.255 others(37): Show c.2555+13296_2555+13297insTATATATATATAAATA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	18/22	INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86410841	T T	TATATATA others(9): Show TATATATATATATATAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0003 a0001c0002t0006g0003	1	132	0.0076	16	c.255 others(37): Show c.2555+13296_2555+13297insTATATATATATATAAA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	18/22	INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86501088	A A	AATTTGAC others(9): Show AATTTGACAATTTAAGG	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0032 a0001c0032	a0001c0032t0009 a0001c0032t0009	a0001c0032t0009g0108 a0001c0032t0009g0108	1	132	0.0076	16	c.255 others(37): Show c.2556-21721_2556-21720insTTTGACAATTTAAGGA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	18/22	INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86526544	G G	GTGTATAT others(9): Show GTGTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0109 a0001c0001t0001g0109	1	132	0.0076	16	c.268 others(35): Show c.2685+3606_2685+3607insGTATATATATATATAT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	19/22	INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86526544	G G	GTGTGTAT others(9): Show GTGTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG02615.hp1 HG02615.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0097 a0001c0001t0003g0097	1	132	0.0076	16	c.268 others(35): Show c.2685+3606_2685+3607insGTGTATATATATATAT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	19/22	INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86635300	C C	CCCCTCCT others(9): Show CCCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03710.hp1 HG02602.hp1 HG03710.hp1	a0001 a0002 a0001 a0002	a0001c0008 a0002c0060 a0001c0008 a0002c0060	a0001c0008t0001 a0002c0060t0004 a0001c0008t0001 a0002c0060t0004	a0001c0008t0001g0006 a0002c0060t0004g0072 a0001c0008t0001g0006 a0002c0060t0004g0072	2	132	0.0152	16	c.299 others(37): Show c.2995-38971_2995-38970insCTCCTCCTCCTCCTCC	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	21/22	INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86635300	C C	CTCCTCCT others(9): Show CTCCTCCTCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG03540.hp1 HG03540.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0128 a0001c0002t0001g0128	1	132	0.0076	16	c.299 others(37): Show c.2995-38973_2995-38972insTCCTCCTCCTCCTCCT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	21/22		chr15	TogoVar
AGBL1_chr15_86074871_86921156	86636758	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0002 a0001c0006t0002	a0001c0006t0002g0051 a0001c0006t0002g0051	1	132	0.0076	16	c.299 others(37): Show c.2995-37514_2995-37513insTATATATATATATACA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	21/22	INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86667234	G G	GTATCTAT others(9): Show GTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00544.hp1 HG03471.hp2 others(1): Show HG00423.hp2 HG00544.hp1 HG03471.hp2 HG03710.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0008 a0001c0001 a0001c0002 a0001c0008	a0001c0001t0001 a0001c0002t0022 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0002t0022 a0001c0008t0001 a0001c0008t0053	a0001c0001t0001g0076 a0001c0002t0022g0041 a0001c0008t0001g0006 others(1): Show a0001c0001t0001g0076 a0001c0002t0022g0041 a0001c0008t0001g0006 a0001c0008t0053g0042	4	132	0.0303	16	c.299 others(35): Show c.2995-7036_2995-7035insCTATCTATCTATCTAT	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	21/22	INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86670600	G G	GACACACA others(9): Show GACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02451.hp1 HG02559.hp2 others(4): Show HG01346.hp2 HG02451.hp1 HG02559.hp2 HG03209.hp1 HG03209.hp2 HG06807.hp1 NA20129.hp2	a0001 a0004 a0008 a0001 a0004 a0008	a0001c0002 a0001c0007 a0001c0052 others(3): Show a0001c0002 a0001c0007 a0001c0052 a0004c0020 a0004c0031 a0008c0058	a0001c0002t0018 a0001c0007t0038 a0001c0007t0044 others(4): Show a0001c0002t0018 a0001c0007t0038 a0001c0007t0044 a0001c0052t0026 a0004c0020t0012 a0004c0031t0015 a0008c0058t0010	a0001c0002t0018g0101 a0001c0007t0038g0129 a0001c0007t0044g0114 others(4): Show a0001c0002t0018g0101 a0001c0007t0038g0129 a0001c0007t0044g0114 a0001c0052t0026g0126 a0004c0020t0012g0073 a0004c0031t0015g0104 a0008c0058t0010g0053	7	132	0.0530	16	c.299 others(35): Show c.2995-3661_2995-3646dupCACACACACACACACA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	21/22	INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86769206	A A	AGAGACAG others(9): Show AGAGACAGAGAAAGAGG	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01258.hp2 HG01978.hp1 others(6): Show HG01081.hp1 HG01258.hp2 HG01978.hp1 HG02698.hp1 HG02698.hp2 HG02738.hp1 NA18906.hp2 NA18943.hp1 NA19012.hp2	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0002 a0001c0004 a0001c0006 others(5): Show a0001c0002 a0001c0004 a0001c0006 a0001c0050 a0001c0051 a0001c0059 a0002c0018 a0009c0035	a0001c0002t0027 a0001c0004t0052 a0001c0006t0002 others(6): Show a0001c0002t0027 a0001c0004t0052 a0001c0006t0002 a0001c0006t0025 a0001c0050t0028 a0001c0051t0033 a0001c0059t0001 a0002c0018t0001 a0009c0035t0007	a0001c0002t0027g0082 a0001c0004t0052g0030 a0001c0006t0002g0051 others(6): Show a0001c0002t0027g0082 a0001c0004t0052g0030 a0001c0006t0002g0051 a0001c0006t0025g0035 a0001c0050t0028g0054 a0001c0051t0033g0060 a0001c0059t0001g0011 a0002c0018t0001g0074 a0009c0035t0007g0045	9	132	0.0682	16	c.315 others(37): Show c.3158+94774_3158+94775insCAGAGAAAGAGGGAGA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22	INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL1_chr15_86074871_86921156	86828914	G G	GTATATAT others(9): Show GTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0003 a0003	a0003c0041 a0003c0041	a0003c0041t0017 a0003c0041t0017	a0003c0041t0017g0117 a0003c0041t0017g0117	1	132	0.0076	16	c.315 others(37): Show c.3159-78160_3159-78145dupTATATATATATATATA	AGBL1	ENSG00000273540.5	transcript	ENST00000614907.3	protein_coding	22/22	INFO_REALIGN_3_PRIME	chr15	TogoVar
AGBL2_chr11_47654591_47720369	47678330	A A	ATTATTAT others(9): Show ATTATTATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0031 a0002c0002t0002g0031	1	356	0.0028	16	c.201 others(33): Show c.2017-930_2017-929insAAAAAAAAAATAATAA	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	13/18		chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00639.hp1 HG00642.hp2 others(5): Show HG00140.hp1 HG00639.hp1 HG00642.hp2 HG00741.hp1 NA18944.hp2 NA19009.hp1 NA19091.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0192 others(5): Show a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0192 a0001c0001t0001g0197 a0001c0001t0001g0209 a0001c0001t0001g0223 a0001c0001t0001g0229 a0001c0001t0001g0231	8	356	0.0225	16	c.848 others(31): Show c.848+373_848+374insATTTTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18		chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG02135.hp1 NA18522.hp1 NA18953.hp1 others(2): Show HG02135.hp1 NA18522.hp1 NA18953.hp1 NA18990.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0165 others(2): Show a0001c0001t0001g0123 a0001c0001t0001g0129 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0336	5	356	0.0140	16	c.848 others(31): Show c.848+373_848+374insATATTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18		chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(9): Show AAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02976.hp1 HG03209.hp1 others(6): Show HG02735.hp1 HG02976.hp1 HG03209.hp1 HG03654.hp2 HG03942.hp1 HG04228.hp2 NA18952.hp2 NA19063.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0128 a0001c0001t0001g0150 a0001c0001t0001g0179 others(6): Show a0001c0001t0001g0128 a0001c0001t0001g0150 a0001c0001t0001g0179 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0186 a0001c0001t0001g0226 a0001c0001t0001g0242 a0002c0002t0001g0349	9	356	0.0253	16	c.848 others(31): Show c.848+373_848+374insATATATTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18		chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(9): Show AAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02148.hp2 HG02602.hp1 others(1): Show HG02056.hp2 HG02148.hp2 HG02602.hp1 HG03669.hp2	a0001 a0010 a0001 a0010	a0001c0001 a0010c0014 a0001c0001 a0010c0014	a0001c0001t0001 a0010c0014t0001 a0001c0001t0001 a0010c0014t0001	a0001c0001t0001g0147 a0001c0001t0001g0163 a0001c0001t0001g0225 others(1): Show a0001c0001t0001g0147 a0001c0001t0001g0163 a0001c0001t0001g0225 a0010c0014t0001g0222	4	356	0.0112	16	c.848 others(31): Show c.848+373_848+374insATATATATTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18		chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(9): Show AAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18966.hp1 NA18992.hp1 NA18966.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0143 a0001c0001t0001g0190 a0001c0001t0001g0143 a0001c0001t0001g0190	2	356	0.0056	16	c.848 others(31): Show c.848+373_848+374insATATATATATTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18		chr11	TogoVar
AGBL3_chr7_134981508_135140778	135096558	A A	AAGATAGA others(9): Show AAGATAGATAGATAGAT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0045 a0002c0002t0002g0045	1	320	0.0031	16	c.211 others(37): Show c.2110+14778_2110+14793dupGATAGATAGATAGATA	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	15/16	INFO_REALIGN_3_PRIME	chr7	TogoVar
AGBL3_chr7_134981508_135140778	135096580	G G	GATAGATA others(9): Show GATAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0014 a0014	a0014c0012 a0014c0012	a0014c0012t0001 a0014c0012t0001	a0014c0012t0001g0280 a0014c0012t0001g0280	1	320	0.0031	16	c.211 others(37): Show c.2110+14793_2110+14794insGATAGATAGATACATA	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	15/16	INFO_REALIGN_3_PRIME	chr7	TogoVar
AGBL3_chr7_134981508_135140778	135096742	T T	TGAAAGAA others(9): Show TGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01123.hp2 HG02738.hp1 others(9): Show HG00735.hp1 HG01123.hp2 HG02738.hp1 HG02976.hp2 HG03453.hp1 HG03516.hp2 HG03942.hp2 NA18964.hp1 NA18975.hp2 NA19066.hp1 NA19072.hp1 NA19085.hp1	a0001 a0002 a0014 a0001 a0002 a0014	a0001c0001 a0002c0002 a0014c0012 a0001c0001 a0002c0002 a0014c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0002c0002t0001 a0002c0002t0002 a0014c0012t0001	a0001c0001t0001g0103 a0001c0001t0001g0255 a0001c0001t0001g0256 others(9): Show a0001c0001t0001g0103 a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0188 a0001c0001t0002g0274 a0001c0001t0003g0203 a0001c0001t0003g0234 a0002c0002t0001g0018 a0002c0002t0002g0031 a0014c0012t0001g0280	12	320	0.0375	16	c.211 others(37): Show c.2110+14989_2110+15004dupGAAAGAAAGAAAGAAA	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	15/16	INFO_REALIGN_3_PRIME	chr7	TogoVar
AGBL4_chr1_48527854_50028954	48588656	A A	AGTGTGTG others(9): Show AGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0077	1	104	0.0096	16	c.110 others(35): Show c.1105-1506_1105-1491dupACACACACACACACAC	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	10/13		chr1	TogoVar
AGBL4_chr1_48527854_50028954	48625090	C C	CTCCTTCC others(9): Show CTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01943.hp1 HG02922.hp2 others(2): Show HG00639.hp1 HG01943.hp1 HG02922.hp2 HG02970.hp1 NA18522.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0002c0003t0001	a0001c0001t0001g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 others(2): Show a0001c0001t0001g0083 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0007g0085 a0002c0003t0001g0015	5	104	0.0481	16	c.951 others(33): Show c.951+9387_951+9402dupAGGAAGGAAGGAAGGA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	9/13		chr1	TogoVar
AGBL4_chr1_48527854_50028954	48650444	A A	ACCTTCCT others(9): Show ACCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	NA18906.hp2 NA18906.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0009 a0002c0003t0001g0009	1	104	0.0096	16	c.839 others(33): Show c.839+2877_839+2892dupAAGGAAGGAAGGAAGG	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	8/13		chr1	TogoVar
AGBL4_chr1_48527854_50028954	48827995	T T	TACACACA others(9): Show TACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0035 a0001c0002t0001g0035	1	104	0.0096	16	c.634 others(35): Show c.634+39180_634+39195dupGTGTGTGTGTGTGTGT	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	6/13		chr1	TogoVar
AGBL4_chr1_48527854_50028954	48837711	C C	CTATATAT others(9): Show CTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18970.hp2 NA18977.hp2 others(2): Show HG02132.hp2 NA18970.hp2 NA18977.hp2 NA18983.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 others(1): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0015 a0001c0002t0002	a0001c0001t0005g0066 a0001c0001t0006g0025 a0001c0001t0015g0058 others(2): Show a0001c0001t0005g0066 a0001c0001t0006g0025 a0001c0001t0015g0058 a0001c0002t0002g0003 a0001c0002t0002g0005	5	104	0.0481	16	c.634 others(35): Show c.634+29464_634+29479dupTATATATATATATATA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	6/13		chr1	TogoVar
AGBL4_chr1_48527854_50028954	48871353	T T	TTGTGTGT others(9): Show TTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG04204.hp2 HG03831.hp1 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0012 a0001c0001t0004 a0001c0001t0012	a0001c0001t0004g0078 a0001c0001t0012g0054 a0001c0001t0004g0078 a0001c0001t0012g0054	2	104	0.0192	16	c.595 others(33): Show c.595-4139_595-4124dupCACACACACACACACA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	5/13		chr1	TogoVar
AGBL4_chr1_48527854_50028954	48962096	C C	CCCATCCA others(9): Show CCCATCCATCCATCCAT	intron_variant intron_variant	MODIFIER	HG02132.hp2 HG03492.hp1 HG04204.hp2 others(2): Show HG02132.hp2 HG03492.hp1 HG04204.hp2 NA18962.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0002 a0001c0001t0012 a0001c0001t0015 others(1): Show a0001c0001t0002 a0001c0001t0012 a0001c0001t0015 a0002c0003t0008	a0001c0001t0002g0056 a0001c0001t0012g0054 a0001c0001t0012g0055 others(2): Show a0001c0001t0002g0056 a0001c0001t0012g0054 a0001c0001t0012g0055 a0001c0001t0015g0058 a0002c0003t0008g0088	5	104	0.0481	16	c.594 others(35): Show c.594+83472_594+83487dupATGGATGGATGGATGG	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	5/13		chr1	TogoVar
AGBL4_chr1_48527854_50028954	48996817	C C	CCCTTCCT others(9): Show CCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG02055.hp2 HG02559.hp2 others(4): Show HG01243.hp2 HG02055.hp2 HG02559.hp2 HG02647.hp2 HG03130.hp1 HG03195.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(3): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0016 a0001c0004t0010	a0001c0001t0002g0018 a0001c0001t0002g0044 a0001c0001t0003g0100 others(4): Show a0001c0001t0002g0018 a0001c0001t0002g0044 a0001c0001t0003g0100 a0001c0001t0004g0065 a0001c0001t0008g0047 a0001c0001t0016g0001 a0001c0004t0010g0048	7	104	0.0673	16	c.594 others(35): Show c.594+48751_594+48766dupAAGGAAGGAAGGAAGG	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	5/13		chr1	TogoVar
AGBL4_chr1_48527854_50028954	49207542	T T	TTTTCTTT others(9): Show TTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02071.hp1 HG02630.hp2 others(10): Show HG02055.hp1 HG02071.hp1 HG02630.hp2 HG02647.hp1 HG02698.hp2 HG02809.hp2 HG03453.hp1 HG04204.hp1 NA18522.hp2 NA18946.hp2 NA19002.hp2 NA19030.hp2 NA19068.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0002c0003 a0001c0001 a0001c0002 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0010 a0001c0001t0013 a0001c0002t0001 a0001c0002t0002 a0002c0003t0001	a0001c0001t0001g0068 a0001c0001t0002g0097 a0001c0001t0002g0099 others(10): Show a0001c0001t0001g0068 a0001c0001t0002g0097 a0001c0001t0002g0099 a0001c0001t0004g0081 a0001c0001t0005g0093 a0001c0001t0006g0069 a0001c0001t0007g0085 a0001c0001t0009g0039 a0001c0001t0010g0027 a0001c0001t0013g0090 a0001c0002t0001g0036 a0001c0002t0002g0002 a0002c0003t0001g0013	13	104	0.1250	16	c.377 others(35): Show c.377+38212_377+38227dupGAAAGAAAGAAAGAAA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	4/13		chr1	TogoVar
AGBL4_chr1_48527854_50028954	49303451	T T	TTTTATTT others(9): Show TTTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01071.hp2 HG01167.hp2 others(21): Show HG00639.hp2 HG01071.hp2 HG01167.hp2 HG01496.hp1 HG01943.hp2 HG02004.hp2 HG02055.hp1 HG02132.hp2 HG02622.hp2 HG02647.hp1 HG02717.hp1 HG02922.hp2 HG02970.hp1 HG03471.hp1 HG03471.hp2 HG03492.hp1 HG03540.hp2 HG04204.hp2 NA18906.hp2 NA18962.hp1 NA18971.hp2 NA18977.hp1 NA19030.hp1 NA19043.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0012 a0001c0001t0013 a0001c0001t0015 a0001c0004t0003 a0002c0003t0001 a0002c0003t0005	a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0087 others(21): Show a0001c0001t0001g0077 a0001c0001t0001g0079 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0002g0018 a0001c0001t0002g0056 a0001c0001t0002g0075 a0001c0001t0002g0084 a0001c0001t0002g0086 a0001c0001t0004g0095 a0001c0001t0004g0104 a0001c0001t0005g0091 a0001c0001t0005g0093 a0001c0001t0007g0098 a0001c0001t0011g0010 a0001c0001t0012g0054 a0001c0001t0012g0055 a0001c0001t0013g0006 a0001c0001t0015g0058 a0001c0004t0003g0057 a0002c0003t0001g0009 a0002c0003t0001g0013 a0002c0003t0001g0059 a0002c0003t0005g0017	24	104	0.2308	16	c.283 others(35): Show c.283-57603_283-57588dupTAAATAAATAAATAAA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	3/13		chr1	TogoVar
AGBL4_chr1_48527854_50028954	49530259	T T	TAAAAAAA others(9): Show TAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0102 a0001c0001t0003g0102	1	104	0.0096	16	c.282 others(37): Show c.282+167053_282+167054insTTTTTTTTTTTTTTTT	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	3/13		chr1	TogoVar
AGBL4_chr1_48527854_50028954	49530274	A A	AAAAAAAA others(9): Show AAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0010 a0001c0001t0011g0010	1	104	0.0096	16	c.282 others(37): Show c.282+167038_282+167039insGTTTTTTTTTTTTTTT	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	3/13		chr1	TogoVar
AGBL4_chr1_48527854_50028954	49568487	T T	TCACACAC others(9): Show TCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0080 a0001c0001t0001g0080	1	104	0.0096	16	c.282 others(37): Show c.282+128810_282+128825dupTGTGTGTGTGTGTGTG	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	3/13		chr1	TogoVar
AGBL4_chr1_48527854_50028954	49714569	C C	CATATATA others(9): Show CATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0098 a0001c0001t0007g0098	1	104	0.0096	16	c.158 others(35): Show c.158-17148_158-17133dupATATATATATATATAT	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	2/13		chr1	TogoVar
AGBL4_chr1_48527854_50028954	49714593	T T	TATATATA others(9): Show TATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	104	0.0096	16	c.158 others(35): Show c.158-17157_158-17156insGTATATATATATATAT	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	2/13		chr1	TogoVar
AGBL4_chr1_48527854_50028954	49823778	A A	ATGTGTGT others(9): Show ATGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0013 a0002c0003t0001g0013	1	104	0.0096	16	c.157 others(35): Show c.157+27602_157+27617dupCACACACACACACACA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	2/13		chr1	TogoVar
AGBL4_chr1_48527854_50028954	49971907	G G	GTTGTTTT others(9): Show GTTGTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0027 a0001c0001t0010g0027	1	104	0.0096	16	c.34+ others(33): Show c.34+51855_34+51856insAAAAAAAAAAAAACAA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13		chr1	TogoVar
AGBL4_chr1_48527854_50028954	49971907	G G	GTTTTTTT others(9): Show GTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02922.hp2 HG03471.hp1 others(1): Show HG02647.hp1 HG02922.hp2 HG03471.hp1 HG03540.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0002 a0002c0003t0001 a0001c0001t0001 a0001c0001t0002 a0002c0003t0001	a0001c0001t0001g0087 a0001c0001t0002g0018 a0001c0001t0002g0084 others(1): Show a0001c0001t0001g0087 a0001c0001t0002g0018 a0001c0001t0002g0084 a0002c0003t0001g0013	4	104	0.0385	16	c.34+ others(33): Show c.34+51840_34+51855dupAAAAAAAAAAAAAAAA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13		chr1	TogoVar
AGBL4_chr1_48527854_50028954	50019306	T T	TCTCACAC others(9): Show TCTCACACACACACACA	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA19002.hp2 NA18983.hp1 NA19002.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0002 a0001c0002t0002g0003	2	104	0.0192	16	c.34+ others(31): Show c.34+4456_34+4457insTGTGTGTGTGTGTGAG	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13		chr1	TogoVar
AGBL4_chr1_48527854_50028954	50019306	T T	TCTCTCTC others(9): Show TCTCTCTCACACACACA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0052 a0001c0004t0003g0052	1	104	0.0096	16	c.34+ others(31): Show c.34+4456_34+4457insTGTGTGTGTGAGAGAG	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13		chr1	TogoVar

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