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 (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ 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
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0059 a0002c0002t0002g0059	1	356	0.0028	28	c.848 others(43): Show c.848+373_848+374insATATATATATATTTTTTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG03669.hp1 NA18949.hp2 HG02109.hp2 HG03669.hp1 NA18949.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0199 a0002c0002t0002g0022 a0002c0002t0002g0062 a0001c0001t0001g0199 a0002c0002t0002g0022 a0002c0002t0002g0062	3	356	0.0084	28	c.848 others(43): Show c.848+373_848+374insATATATATATATATTTTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL2_chr11_47654591_47720369	47691729	A A	AAAAAAAA others(21): Show AAAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG01175.hp2 HG02280.hp2 HG00544.hp2 HG01175.hp2 HG02280.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0009 a0001c0001 a0002c0002 a0002c0009	a0001c0001t0001 a0002c0002t0002 a0002c0009t0002 a0001c0001t0001 a0002c0002t0002 a0002c0009t0002	a0001c0001t0001g0204 a0002c0002t0002g0064 a0002c0009t0002g0114 a0001c0001t0001g0204 a0002c0002t0002g0064 a0002c0009t0002g0114	3	356	0.0084	28	c.848 others(43): Show c.848+373_848+374insATATATATATATATATTTTTTTTTTTTT	AGBL2	ENSG00000165923.17	transcript	ENST00000525123.6	protein_coding	9/18			chr11	TogoVar
AGBL3_chr7_134981508_135140778	135026244	A A	ATTATTTT others(21): Show ATTATTTTATTTTATTTTTTTTATTTATT	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG01074.hp2 HG02145.hp1 others(4): Show HG01069.hp1 HG01074.hp2 HG02145.hp1 HG03209.hp1 NA18990.hp2 NA18992.hp1 NA19007.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0011 a0001c0001 a0002c0002 a0002c0011	a0001c0001t0003 a0002c0002t0002 a0002c0011t0002 a0001c0001t0003 a0002c0002t0002 a0002c0011t0002	a0001c0001t0003g0225 a0001c0001t0003g0227 a0001c0001t0003g0231 others(4): Show a0001c0001t0003g0225 a0001c0001t0003g0227 a0001c0001t0003g0231 a0001c0001t0003g0233 a0001c0001t0003g0247 a0002c0002t0002g0030 a0002c0011t0002g0013	7	320	0.0219	28	c.419 others(45): Show c.419-6583_419-6582insTTTTATTTATTTTATTTTATTTTATTTT	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	5/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGBL3_chr7_134981508_135140778	135096572	G G	GATAGATA others(21): Show GATAGATAGATAGATAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00639.hp2 HG01074.hp2 others(15): Show HG00280.hp2 HG00639.hp2 HG01074.hp2 HG01169.hp1 HG01981.hp2 HG02074.hp1 HG02165.hp1 HG02523.hp1 HG02572.hp1 HG02818.hp2 HG02970.hp1 HG06807.hp2 NA18948.hp2 NA18960.hp1 NA19007.hp2 NA19060.hp1 NA19064.hp1 NA19070.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0008 a0002c0002 others(1): Show a0001c0001 a0001c0008 a0002c0002 a0011c0017	a0001c0001t0002 a0001c0001t0003 a0001c0008t0003 others(2): Show a0001c0001t0002 a0001c0001t0003 a0001c0008t0003 a0002c0002t0002 a0011c0017t0001	a0001c0001t0002g0139 a0001c0001t0002g0184 a0001c0001t0003g0007 others(14): Show a0001c0001t0002g0139 a0001c0001t0002g0184 a0001c0001t0003g0007 a0001c0001t0003g0144 a0001c0001t0003g0224 a0001c0001t0003g0227 a0001c0001t0003g0230 a0001c0001t0003g0233 a0001c0001t0003g0236 a0001c0008t0003g0229 a0002c0002t0002g0021 a0002c0002t0002g0025 a0002c0002t0002g0029 a0002c0002t0002g0033 a0002c0002t0002g0034 a0002c0002t0002g0042 a0011c0017t0001g0312	18	320	0.0563	28	c.211 others(49): Show c.2110+14793_2110+14794insGATAGATAGATAGATACATAGATA GATA	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGBL3_chr7_134981508_135140778	135096576	G G	GATAGATA others(21): Show GATAGATAGATAGATAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01361.hp1 HG01516.hp2 others(10): Show HG00438.hp1 HG01361.hp1 HG01516.hp2 HG02055.hp2 HG02080.hp2 HG02602.hp2 HG02809.hp1 HG02922.hp1 HG03041.hp1 NA18941.hp2 NA19066.hp1 NA19072.hp1 NA19084.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0002 a0001c0001t0003 a0001c0008t0003 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0008t0003 a0002c0002t0002	a0001c0001t0002g0064 a0001c0001t0002g0142 a0001c0001t0002g0181 others(10): Show a0001c0001t0002g0064 a0001c0001t0002g0142 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0186 a0001c0001t0003g0218 a0001c0001t0003g0220 a0001c0008t0003g0223 a0002c0002t0002g0020 a0002c0002t0002g0022 a0002c0002t0002g0028 a0002c0002t0002g0037	13	320	0.0406	28	c.211 others(49): Show c.2110+14793_2110+14794insGATAGATAGATAGATAGATACATA GATA	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(21): Show GATAGATAGATAGATAGATAGATAGATAC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0010	1	320	0.0031	28	c.211 others(49): Show c.2110+14793_2110+14794insGATAGATAGATAGATAGATAGATA CATA	AGBL3	ENSG00000146856.14	transcript	ENST00000436302.6	protein_coding	15/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGBL4_chr1_48527854_50028954	48996817	C C	CCCTTCCT others(21): Show CCCTTCCTTCCTTCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG02630.hp2 HG02976.hp1 others(1): Show HG00609.hp1 HG02630.hp2 HG02976.hp1 NA18983.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0003 a0001c0001t0001 a0001c0004t0003	a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0068 others(1): Show a0001c0001t0001g0008 a0001c0001t0001g0042 a0001c0001t0001g0068 a0001c0004t0003g0064	4	104	0.0385	28	c.594 others(47): Show c.594+48739_594+48766dupAAGGAAGGAAGGAAGGAAGGAAGGAA GG	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	5/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	49303451	T T	TTTTATTT others(21): Show TTTTATTTATTTATTTATTTATTTATTTA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG03209.hp2 NA20129.hp1 HG01243.hp2 HG03209.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0001 a0001c0004t0010 a0001c0001t0001 a0001c0004t0010	a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0004t0010g0048 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0004t0010g0048	3	104	0.0289	28	c.283 others(47): Show c.283-57588_283-57587insTAAATAAATAAATAAATAAATAAATA AA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	3/13			chr1	TogoVar
AGBL4_chr1_48527854_50028954	49971907	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0012 a0001c0001t0001g0012	1	104	0.0096	28	c.34+ others(45): Show c.34+51855_34+51856insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	AGBL4	ENSG00000186094.18	transcript	ENST00000371839.6	protein_coding	1/13			chr1	TogoVar
AGFG2_chr7_100534203_100573220	100551030	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA18975.hp1 HG03491.hp1 NA18975.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0189 a0001c0001t0001g0089 a0001c0001t0001g0189	2	246	0.0081	28	c.431 others(43): Show c.431+529_431+556dupATATATATATATATATATATATATATAT	AGFG2	ENSG00000106351.13	transcript	ENST00000300176.9	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGK_chr7_141546410_141660244	141602172	C C	CGTGTGTG others(21): Show CGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01258.hp2 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0083 a0001c0001t0001g0083	1	274	0.0037	28	c.297 others(43): Show c.297+892_297+893insGTGTGTGTGTGTGTGTGTGTGTGTGTGT	AGK	ENSG00000006530.18	transcript	ENST00000649286.2	protein_coding	5/15			chr7	TogoVar
AGK_chr7_141546410_141660244	141602173	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02027.hp1 NA18954.hp1 NA18968.hp1 others(1): Show HG02027.hp1 NA18954.hp1 NA18968.hp1 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0045 others(1): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0045 a0001c0001t0001g0105	4	274	0.0146	28	c.297 others(43): Show c.297+905_297+932dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	AGK	ENSG00000006530.18	transcript	ENST00000649286.2	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr7	TogoVar
AGL_chr1_99845361_99929020	99857843	G G	GGGGGAGA others(21): Show GGGGGAGAGGGAGACCGTGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG01981.hp2 HG02080.hp2 others(9): Show HG00642.hp2 HG01981.hp2 HG02080.hp2 HG02148.hp1 HG02257.hp2 HG02280.hp1 HG02451.hp1 HG03486.hp1 NA18948.hp2 NA18962.hp2 NA18970.hp1 NA19068.hp2	a0003 a0025 a0003 a0025	a0003c0006 a0003c0015 a0025c0035 a0003c0006 a0003c0015 a0025c0035	a0003c0006t0001 a0003c0006t0019 a0003c0015t0012 others(1): Show a0003c0006t0001 a0003c0006t0019 a0003c0015t0012 a0025c0035t0001	a0003c0006t0001g0178 a0003c0006t0001g0179 a0003c0006t0001g0180 others(9): Show a0003c0006t0001g0178 a0003c0006t0001g0179 a0003c0006t0001g0180 a0003c0006t0001g0181 a0003c0006t0001g0184 a0003c0006t0001g0185 a0003c0006t0001g0186 a0003c0006t0001g0196 a0003c0006t0001g0200 a0003c0006t0019g0188 a0003c0015t0012g0197 a0025c0035t0001g0187	12	318	0.0377	28	c.83- others(43): Show c.83-3657_83-3656insGAGAGGGAGACCGTGGGGAGGGGGAGGG	AGL	ENSG00000162688.17	transcript	ENST00000361915.8	protein_coding	2/33		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGMO_chr7_15195317_15567015	15248179	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0014 a0014	a0014c0014 a0014c0014	a0014c0014t0001 a0014c0014t0001	a0014c0014t0001g0180 a0014c0014t0001g0180	1	236	0.0042	28	c.126 others(49): Show c.1264-46848_1264-46821dupATATATATATATATATATATATAT ATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15248214	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0235 a0001c0001t0012g0235	1	236	0.0042	28	c.126 others(49): Show c.1264-46856_1264-46855insCATATATATATATATATATATATA TATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15248222	A A	ATATATAT others(21): Show ATATATATATATATATATATATATCTATC	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0198 a0001c0001t0001g0198	1	236	0.0042	28	c.126 others(49): Show c.1264-46864_1264-46863insGATAGATATATATATATATATATA TATA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15322537	T T	TATATATA others(21): Show TATATATATAAATATATATAAATATATAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0144 a0001c0001t0001g0144	1	236	0.0042	28	c.126 others(49): Show c.1263+42949_1263+42976dupTTATATATTTATATATATTTATAT ATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15354314	G G	GTGTATAT others(21): Show GTGTATATACACACGCGTCTATACACACA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0002 a0001c0005t0002	a0001c0005t0002g0013 a0001c0005t0002g0013	1	236	0.0042	28	c.126 others(49): Show c.1263+11199_1263+11200insTGTGTGTATAGACGCGTGTGTATA TACA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15365380	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	236	0.0042	28	c.126 others(45): Show c.1263+133_1263+134insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	12/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15432379	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03209.hp2 HG03041.hp1 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0021 a0002c0002t0001g0022 a0002c0002t0001g0021 a0002c0002t0001g0022	2	236	0.0085	28	c.410 others(45): Show c.410-1272_410-1271insGTGTATATATATATATATATATATATAT	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGMO_chr7_15195317_15567015	15459599	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG04184.hp1 HG06807.hp2 HG03688.hp2 HG04184.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0071 a0001c0001t0001g0149 a0001c0001t0001g0046 a0001c0001t0001g0071 a0001c0001t0001g0149	3	236	0.0127	28	c.410 others(47): Show c.410-28492_410-28491insCACACACACACACACACACACACACA CA	AGMO	ENSG00000187546.14	transcript	ENST00000342526.8	protein_coding	3/12			chr7	TogoVar
AGO4_chr1_35803016_35862890	35818658	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGAAAGGAAGAAAGGAAGG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0020 a0001c0001t0006g0020	1	270	0.0037	28	c.185 others(45): Show c.185+1614_185+1615insAAAGAAAGAAAGGAAGAAAGGAAGGAAG	AGO4	ENSG00000134698.11	transcript	ENST00000373210.4	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGO4_chr1_35803016_35862890	35818658	A A	AAAGAAAG others(21): Show AAAGAAAGAAAGGAAGAAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA19088.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0031 a0001c0001t0003g0031	1	270	0.0037	28	c.185 others(45): Show c.185+1614_185+1615insAAAGAAAGGAAGAAAGGAAGGAAGGAAG	AGO4	ENSG00000134698.11	transcript	ENST00000373210.4	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGO4_chr1_35803016_35862890	35818658	A A	AAAGAAAG others(21): Show AAAGAAAGGAAGAAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02451.hp1 HG02615.hp1 others(4): Show HG02055.hp1 HG02451.hp1 HG02615.hp1 HG02717.hp1 HG02886.hp2 HG03471.hp2 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007	a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 others(4): Show a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0051 a0001c0001t0006g0040 a0001c0001t0007g0018	7	270	0.0259	28	c.185 others(45): Show c.185+1614_185+1615insAAAGGAAGAAAGGAAGGAAGGAAGGAAG	AGO4	ENSG00000134698.11	transcript	ENST00000373210.4	protein_coding	2/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGPAT4_chr6_161124967_161279061	161228661	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18955.hp1 HG02040.hp1 NA18955.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0039 a0001c0002t0004 a0001c0002t0039	a0001c0002t0004g0083 a0001c0002t0039g0119 a0001c0002t0004g0083 a0001c0002t0039g0119	2	264	0.0076	28	c.178 others(45): Show c.178+3374_178+3375insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	AGPAT4	ENSG00000026652.15	transcript	ENST00000320285.9	protein_coding	2/8			chr6	TogoVar
AGPS_chr2_177387773_177548834	177450963	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02965.hp1 HG03471.hp1 others(1): Show HG02055.hp1 HG02965.hp1 HG03471.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0007 others(1): Show a0001c0002t0004g0002 a0001c0002t0004g0003 a0001c0002t0004g0007 a0001c0002t0004g0010	4	258	0.0155	28	c.870 others(45): Show c.870+5349_870+5350insATATATATATATATATATATATATATAT	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGPS_chr2_177387773_177548834	177450964	A A	ATATATAT others(21): Show ATATATATACACACATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02965.hp2 HG03209.hp1 HG02258.hp2 HG02965.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0014 a0001c0001t0012g0015 a0001c0001t0012g0016 a0001c0001t0012g0014 a0001c0001t0012g0015 a0001c0001t0012g0016	3	258	0.0116	28	c.870 others(45): Show c.870+5346_870+5347insCACACATATATGTATATATGTATATATA	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGPS_chr2_177387773_177548834	177450964	A A	ATATATAT others(21): Show ATATATATATACACATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01243.hp1 HG02055.hp2 others(9): Show HG01109.hp1 HG01243.hp1 HG02055.hp2 HG02559.hp1 HG02818.hp1 HG02895.hp1 HG02970.hp1 HG03453.hp2 HG03471.hp2 HG06807.hp1 HG06807.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0016 a0001c0001t0018 others(2): Show a0001c0001t0008 a0001c0001t0016 a0001c0001t0018 a0001c0001t0049 a0001c0001t0050	a0001c0001t0008g0216 a0001c0001t0008g0217 a0001c0001t0008g0218 others(9): Show a0001c0001t0008g0216 a0001c0001t0008g0217 a0001c0001t0008g0218 a0001c0001t0008g0219 a0001c0001t0008g0220 a0001c0001t0016g0212 a0001c0001t0016g0213 a0001c0001t0016g0214 a0001c0001t0018g0215 a0001c0001t0018g0221 a0001c0001t0049g0001 a0001c0001t0050g0001	12	258	0.0465	28	c.870 others(45): Show c.870+5348_870+5349insCACATATATGTATATATGTATATATATA	AGPS	ENSG00000018510.18	transcript	ENST00000264167.11	protein_coding	8/19		INFO_REALIGN_3_PRIME	chr2	TogoVar
AGR3_chr7_16854412_16886983	16880054	C C	CTTCCCCT others(21): Show CTTCCCCTTCCTTCCTTCCCCTTCCTTCT	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG01192.hp2 HG01261.hp2 others(13): Show HG00738.hp2 HG01192.hp2 HG01261.hp2 HG01358.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01993.hp1 HG02257.hp2 HG02683.hp2 HG02965.hp1 HG03516.hp2 HG03704.hp2 HG03831.hp1 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0002t0001 a0001c0001t0001 a0001c0001t0003 a0001c0002t0001	a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0038 others(8): Show a0001c0001t0001g0014 a0001c0001t0001g0033 a0001c0001t0001g0038 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0164 a0001c0001t0001g0207 a0001c0001t0003g0158 a0001c0002t0001g0059	16	458	0.0349	28	c.-27 others(45): Show c.-27-1437_-27-1410dupAGAAGGAAGGGGAAGGAAGGAAGGGGAA	AGR3	ENSG00000173467.9	transcript	ENST00000310398.7	protein_coding	1/7			chr7	TogoVar
AGRN_chr1_1015120_1061116	1029365	A A	ATCTATGC others(21): Show ATCTATGCAGGCAGGTGGGGGGATCAGTG	intron_variant intron_variant	MODIFIER	HG01257.hp1 HG02895.hp1 HG02896.hp2 others(8): Show HG01257.hp1 HG02895.hp1 HG02896.hp2 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG03130.hp1 HG03225.hp2 HG03471.hp1 HG03486.hp2 NA21309.hp1	a0001 a0004 a0014 others(1): Show a0001 a0004 a0014 a0024	a0001c0007 a0001c0013 a0001c0047 others(6): Show a0001c0007 a0001c0013 a0001c0047 a0001c0059 a0001c0063 a0001c0064 a0004c0057 a0014c0058 a0024c0050	a0001c0007t0005 a0001c0013t0008 a0001c0013t0010 others(7): Show a0001c0007t0005 a0001c0013t0008 a0001c0013t0010 a0001c0047t0001 a0001c0059t0001 a0001c0063t0003 a0001c0064t0005 a0004c0057t0003 a0014c0058t0008 a0024c0050t0018	a0001c0007t0005g0180 a0001c0013t0008g0025 a0001c0013t0010g0011 others(8): Show a0001c0007t0005g0180 a0001c0013t0008g0025 a0001c0013t0010g0011 a0001c0013t0010g0020 a0001c0047t0001g0061 a0001c0059t0001g0171 a0001c0063t0003g0189 a0001c0064t0005g0192 a0004c0057t0003g0046 a0014c0058t0008g0195 a0024c0050t0018g0022	11	210	0.0524	28	c.464 others(45): Show c.464-5890_464-5863dupATCAGTGTCTATGCAGGCAGGTGGGGGG	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGRN_chr1_1015120_1061116	1030152	T T	TGTGCAGT others(21): Show TGTGCAGTGCATGGTGCTGTGAGATCAGC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG03486.hp2 HG02895.hp1 HG03486.hp2	a0001 a0004 a0001 a0004	a0001c0059 a0004c0057 a0001c0059 a0004c0057	a0001c0059t0001 a0004c0057t0003 a0001c0059t0001 a0004c0057t0003	a0001c0059t0001g0171 a0004c0057t0003g0046 a0001c0059t0001g0171 a0004c0057t0003g0046	2	210	0.0095	28	c.464 others(45): Show c.464-5122_464-5121insCAGTGCATGGTGCTGTGAGATCAGCGTG	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGRN_chr1_1015120_1061116	1030732	T T	TGTGCAGT others(21): Show TGTGCAGTGCATGGTGCTGTGAGATCAGC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0047 a0001c0047	a0001c0047t0001 a0001c0047t0001	a0001c0047t0001g0061 a0001c0047t0001g0061	1	210	0.0048	28	c.464 others(45): Show c.464-4542_464-4541insCAGTGCATGGTGCTGTGAGATCAGCGTG	AGRN	ENSG00000188157.15	transcript	ENST00000379370.7	protein_coding	2/35		INFO_REALIGN_3_PRIME	chr1	TogoVar
AGTPBP1_chr9_85541539_85746954	85630391	C C	CTTACTTA others(21): Show CTTACTTACTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03669.hp2 HG03704.hp1 others(2): Show HG01433.hp1 HG03669.hp2 HG03704.hp1 HG03831.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 others(2): Show a0001c0001t0002g0211 a0001c0001t0002g0212 a0001c0001t0002g0213 a0001c0001t0002g0218 a0001c0001t0003g0297	5	302	0.0166	28	c.201 others(47): Show c.2015+2270_2015+2271insATAAATAAATAAATAAATAAGTAAGT AA	AGTPBP1	ENSG00000135049.16	transcript	ENST00000357081.8	protein_coding	14/25			chr9	TogoVar
AHCYL2_chr7_129220030_129435211	129365628	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG01109.hp1 HG01123.hp2 others(2): Show HG00735.hp2 HG01109.hp1 HG01123.hp2 HG02486.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0002 a0001c0001t0001g0079 a0001c0001t0002g0027 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0079 a0001c0001t0002g0027 a0001c0001t0002g0028 a0001c0001t0011g0291	5	292	0.0171	28	c.364 others(47): Show c.364-13993_364-13992insATATATATATATATATATATATATAT AT	AHCYL2	ENSG00000158467.17	transcript	ENST00000325006.8	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr7	TogoVar
AHI1_chr6_135278532_135502740	135293616	G G	GACAAATA others(21): Show GACAAATACCTGTAAATTGAAACTTAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00639.hp1 HG01074.hp2 others(73): Show HG00323.hp2 HG00639.hp1 HG01074.hp2 HG01099.hp2 HG01109.hp1 HG01167.hp1 HG01167.hp2 HG01169.hp2 HG01496.hp2 HG01884.hp1 HG01891.hp1 HG01891.hp2 HG01928.hp2 HG01952.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp2 HG02280.hp2 HG02293.hp1 HG02559.hp1 HG02559.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02647.hp2 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02895.hp1 HG02897.hp1 HG02922.hp1 HG02922.hp2 HG02976.hp1 HG03017.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03130.hp1 HG03195.hp1 HG03209.hp2 HG03225.hp1 HG03225.hp2 HG03453.hp2 HG03471.hp1 HG03486.hp1 HG03486.hp2 HG03516.hp1 HG03540.hp2 HG03654.hp1 HG03834.hp1 NA18522.hp1 NA18612.hp2 NA18906.hp1 NA18906.hp2 NA18940.hp2 NA18951.hp2 NA18960.hp2 NA18981.hp2 NA19000.hp2 NA19007.hp2 NA19030.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA21309.hp1	a0001 a0002 a0004 others(3): Show a0001 a0002 a0004 a0006 a0008 a0009	a0001c0001 a0001c0003 a0001c0006 others(11): Show a0001c0001 a0001c0003 a0001c0006 a0001c0010 a0001c0013 a0001c0015 a0001c0016 a0001c0018 a0001c0021 a0002c0004 a0004c0007 a0006c0009 a0008c0019 a0009c0017	a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 others(16): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0012 a0001c0001t0017 a0001c0003t0002 a0001c0003t0004 a0001c0003t0013 a0001c0006t0002 a0001c0010t0014 a0001c0013t0007 a0001c0015t0010 a0001c0016t0002 a0001c0018t0007 a0001c0021t0010 a0002c0004t0002 a0004c0007t0011 a0006c0009t0008 a0008c0019t0003 a0009c0017t0003	a0001c0001t0002g0011 a0001c0001t0002g0041 a0001c0001t0002g0081 others(73): Show a0001c0001t0002g0011 a0001c0001t0002g0041 a0001c0001t0002g0081 a0001c0001t0002g0088 a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0002g0109 a0001c0001t0002g0120 a0001c0001t0002g0128 a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0172 a0001c0001t0002g0173 a0001c0001t0002g0199 a0001c0001t0002g0200 a0001c0001t0002g0201 a0001c0001t0002g0202 a0001c0001t0002g0203 a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0207 a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0212 a0001c0001t0002g0218 a0001c0001t0003g0012 a0001c0001t0003g0018 a0001c0001t0003g0029 a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0039 a0001c0001t0003g0040 a0001c0001t0003g0042 a0001c0001t0003g0043 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0049 a0001c0001t0003g0050 a0001c0001t0003g0118 a0001c0001t0003g0119 a0001c0001t0003g0177 a0001c0001t0003g0178 a0001c0001t0003g0179 a0001c0001t0003g0182 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0012g0019 a0001c0001t0017g0036 a0001c0003t0002g0219 a0001c0003t0004g0008 a0001c0003t0004g0009 a0001c0003t0013g0046 a0001c0006t0002g0150 a0001c0006t0002g0151 a0001c0010t0014g0020 a0001c0013t0007g0168 a0001c0015t0010g0104 a0001c0016t0002g0180 a0001c0018t0007g0175 a0001c0021t0010g0181 a0002c0004t0002g0013 a0002c0004t0002g0014 a0002c0004t0002g0015 a0002c0004t0002g0047 a0004c0007t0011g0072 a0004c0007t0011g0102 a0006c0009t0008g0005 a0006c0009t0008g0006 a0008c0019t0003g0211 a0009c0017t0003g0030	76	220	0.3455	28	c.348 others(47): Show c.3486-3092_3486-3091insTTTTAAGTTTCAATTTACAGGTATTT GT	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	27/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135344926	T T	TCACACAC others(21): Show TCACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0004 a0004	a0004c0007 a0004c0007	a0004c0007t0011 a0004c0007t0011	a0004c0007t0011g0102 a0004c0007t0011g0102	1	220	0.0046	28	c.316 others(49): Show c.3165+13178_3165+13205dupTGTGTGTGTGTGTGTGTGTGTGTG TGTG	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	24/28			chr6	TogoVar
AHI1_chr6_135278532_135502740	135482894	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03516.hp2 NA19043.hp1 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0005 a0001c0003t0004 a0001c0001t0005 a0001c0003t0004	a0001c0001t0005g0193 a0001c0003t0004g0017 a0001c0001t0005g0193 a0001c0003t0004g0017	2	220	0.0091	28	c.135 others(45): Show c.135+7728_135+7729insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	AHI1	ENSG00000135541.22	transcript	ENST00000265602.11	protein_coding	5/28			chr6	TogoVar
AHRR_chr5_316714_443285	340664	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01993.hp2 HG03041.hp2 HG01993.hp2 HG03041.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0003 a0001c0001 a0004c0003	a0001c0001t0002 a0004c0003t0009 a0001c0001t0002 a0004c0003t0009	a0001c0001t0002g0196 a0004c0003t0009g0232 a0001c0001t0002g0196 a0004c0003t0009g0232	2	268	0.0075	28	c.-10 others(45): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATAT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(21): Show ATATATATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG01167.hp2 NA18951.hp1 HG01167.hp2 NA18951.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0178 a0001c0001t0003g0103 a0001c0001t0002g0178 a0001c0001t0003g0103	2	268	0.0075	28	c.-10 others(45): Show c.-10-3204_-10-3203insATATATATATATATATATATATATATTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(21): Show ATATATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0004 a0004	a0004c0003 a0004c0003	a0004c0003t0034 a0004c0003t0034	a0004c0003t0034g0229 a0004c0003t0034g0229	1	268	0.0037	28	c.-10 others(45): Show c.-10-3204_-10-3203insATATATATATATATATATATTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	355277	A A	AGTGGGCA others(21): Show AGTGGGCACCACCCTGCATGCACCTGGGC	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG01361.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0015 a0005c0005t0015	a0005c0005t0015g0147 a0005c0005t0015g0147	1	268	0.0037	28	c.244 others(45): Show c.244+1367_244+1394dupGTGGGCACCACCCTGCATGCACCTGGGC	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	370064	A A	ATCCTCCC others(21): Show ATCCTCCCGGGCCCTCGCTGGAAGCCCCG	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0013 a0001c0001t0029g0013	1	268	0.0037	28	c.245 others(45): Show c.245-6497_245-6470dupAAGCCCCGTCCTCCCGGGCCCTCGCTGG	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AHRR_chr5_316714_443285	441497	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0045 a0001c0001t0045	a0001c0001t0045g0026 a0001c0001t0045g0026	1	268	0.0037	28	c.66 others(39): Show c.6663_*6664insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding		3213		chr5	TogoVar
AIG1_chr6_143055889_143346058	143143528	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG02056.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0132 a0001c0006t0001g0132	1	204	0.0049	28	c.297 others(45): Show c.297+6539_297+6540insAATATATATATATATATATATATATATA	AIG1	ENSG00000146416.19	transcript	ENST00000357847.9	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr6	TogoVar
AIPL1_chr17_6418738_6440121	6433586	A A	ATCTCTCT others(21): Show ATCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02015.hp2 HG02071.hp2 HG04184.hp2 others(2): Show HG02015.hp2 HG02071.hp2 HG04184.hp2 NA18949.hp1 NA18972.hp2	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0007 a0001c0004t0005 a0001c0004t0020 a0001c0002t0007 a0001c0004t0005 a0001c0004t0020	a0001c0002t0007g0350 a0001c0004t0005g0239 a0001c0004t0020g0200 others(2): Show a0001c0002t0007g0350 a0001c0004t0005g0239 a0001c0004t0020g0200 a0001c0004t0020g0240 a0001c0004t0020g0249	5	454	0.0110	28	c.276 others(43): Show c.276+332_276+333insGAGAGAGAGAGAGAGAGAGAGAGAGAGA	AIPL1	ENSG00000129221.16	transcript	ENST00000381129.8	protein_coding	2/5			chr17	TogoVar
AK5_chr1_77277019_77564966	77368245	A A	ATATATAT others(21): Show ATATATATATATATATATGTTATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00609.hp1 HG00609.hp2 others(24): Show HG00408.hp2 HG00609.hp1 HG00609.hp2 HG01106.hp2 HG01169.hp2 HG01496.hp1 HG02027.hp1 HG02132.hp1 HG02145.hp1 HG02165.hp2 HG02965.hp2 HG03239.hp1 HG03486.hp1 HG03942.hp2 NA18942.hp2 NA18982.hp1 NA18992.hp1 NA18993.hp1 NA19003.hp2 NA19009.hp2 NA19010.hp1 NA19058.hp2 NA19060.hp2 NA19063.hp1 NA19066.hp1 NA19066.hp2 NA19079.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0007 a0001c0001 a0002c0002 a0004c0007	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0002c0002t0002 a0002c0002t0005 a0004c0007t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0111 others(24): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0111 a0001c0001t0001g0198 a0001c0001t0001g0199 a0001c0001t0003g0152 a0001c0001t0003g0153 a0001c0001t0003g0157 a0001c0001t0003g0160 a0001c0001t0003g0161 a0001c0001t0003g0180 a0001c0001t0003g0181 a0001c0001t0003g0191 a0001c0001t0003g0284 a0001c0001t0004g0195 a0001c0001t0006g0227 a0001c0001t0006g0228 a0001c0001t0007g0281 a0002c0002t0002g0037 a0002c0002t0002g0059 a0002c0002t0002g0066 a0002c0002t0002g0196 a0002c0002t0002g0205 a0002c0002t0002g0265 a0002c0002t0005g0162 a0002c0002t0005g0186 a0004c0007t0001g0215	27	284	0.0951	28	c.891 others(47): Show c.891+27685_891+27686insTATATATATGTTATATATATTATATA TA	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77391495	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0272 a0002c0002t0002g0272	1	284	0.0035	28	c.892 others(47): Show c.892-19485_892-19484insGTATATATATATATATATATATATAT AT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK5_chr1_77277019_77564966	77391495	G G	GTGTGTGT others(21): Show GTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp2 HG03471.hp1 HG03471.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0013 a0002c0002t0002 a0002c0002t0013	a0002c0002t0002g0267 a0002c0002t0013g0094 a0002c0002t0002g0267 a0002c0002t0013g0094	2	284	0.0070	28	c.892 others(47): Show c.892-19485_892-19484insGTGTGTATATATATATATATATATAT AT	AK5	ENSG00000154027.19	transcript	ENST00000354567.7	protein_coding	6/13		INFO_REALIGN_3_PRIME	chr1	TogoVar
AK7_chr14_96387128_96494427	96418322	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG03831.hp1 HG01099.hp1 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0292 a0001c0001t0002g0040 a0001c0001t0001g0292 a0001c0001t0002g0040	2	316	0.0063	28	c.499 others(45): Show c.499-2485_499-2484insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr14	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)