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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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
HCK_chr20_32047242_32106856	32102584	A A	ATACATAC others(16): Show ATACATACATACATACATACATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	290	0.0035	23	c.10 others(34): Show c.1065_*1066insTACATACATACATACATACATAC	HCK	ENSG00000101336.18	transcript	ENST00000375852.5	protein_coding		729		chr20	TogoVar
HCN1_chr5_45249948_45701380	45372063	T T	TACATATA others(16): Show TACATATATTATATATATAATATA	intron_variant intron_variant	MODIFIER	HG00738.hp2 HG03669.hp2 homoSapiens_chm13v2.hp1 HG00738.hp2 HG03669.hp2 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0030 a0001c0001t0002 a0001c0001t0030	a0001c0001t0002g0046 a0001c0001t0002g0052 a0001c0001t0030g0008 a0001c0001t0002g0046 a0001c0001t0002g0052 a0001c0001t0030g0008	3	226	0.0133	23	c.123 others(44): Show c.1231-18818_1231-18817insTATATTATATATATAATATATGT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45372072	T T	TATAATAT others(16): Show TATAATATAATTATACATATATTA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01891.hp1 HG01891.hp2 others(4): Show HG00280.hp1 HG01891.hp1 HG01891.hp2 HG03139.hp2 HG03225.hp2 HG03710.hp2 NA18977.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0002 a0001c0001t0005 a0003c0003t0002 a0001c0001t0002 a0001c0001t0005 a0003c0003t0002	a0001c0001t0002g0023 a0001c0001t0002g0038 a0001c0001t0002g0047 others(4): Show a0001c0001t0002g0023 a0001c0001t0002g0038 a0001c0001t0002g0047 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0005g0127 a0003c0003t0002g0221	7	226	0.0310	23	c.123 others(44): Show c.1231-18827_1231-18826insTAATATATGTATAATTATATTAT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN2_chr19_584881_622159	620966	G G	GGGGCGCG others(16): Show GGGGCGCGGGGGGCGCCGGGGGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp1 NA18980.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0355 a0002c0004t0002g0355	1	408	0.0025	23	c.44 others(34): Show c.4492_*4493insGGGCGCGGGGGGCGCCGGGGGGA	HCN2	ENSG00000099822.3	transcript	ENST00000251287.3	protein_coding		3808		chr19	TogoVar
HCN4_chr15_73314859_73373958	73316252	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG02056.hp1 NA18947.hp1 others(1): Show HG00544.hp1 HG02056.hp1 NA18947.hp1 NA18947.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0027 a0001c0001t0002g0118 others(1): Show a0001c0001t0002g0010 a0001c0001t0002g0027 a0001c0001t0002g0118 a0001c0001t0002g0224	4	344	0.0116	23	c.62 others(34): Show c.6228_*6229insATATATATATATATATATATATA	HCN4	ENSG00000138622.4	transcript	ENST00000261917.4	protein_coding		3606		chr15	TogoVar
HCRTR2_chr6_55169515_55287617	55241861	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0324 a0001c0001t0001g0324	1	368	0.0027	23	c.224 others(40): Show c.224-6777_224-6755dupTTTTTTTTTTTTTTTTTTTTTTT	HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
HDAC4_chr2_239043168_239406020	239282770	T T	TACAATGT others(16): Show TACAATGTACACACCCCTCTACAC	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0222 a0001c0002t0004g0222	1	242	0.0041	23	c.23- others(40): Show c.23-46129_23-46107dupGTGTAGAGGGGTGTGTACATTGT	HDAC4	ENSG00000068024.18	transcript	ENST00000543185.6	protein_coding	2/26			chr2	TogoVar
HDAC9_chr7_18490749_19007416	18719331	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03942.hp2 NA18939.hp2 others(1): Show HG03669.hp2 HG03942.hp2 NA18939.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0002 a0001c0002t0004 others(1): Show a0001c0001t0004 a0001c0002t0002 a0001c0002t0004 a0001c0002t0041	a0001c0001t0004g0011 a0001c0002t0002g0034 a0001c0002t0004g0091 others(1): Show a0001c0001t0004g0011 a0001c0002t0002g0034 a0001c0002t0004g0091 a0001c0002t0041g0056	4	156	0.0256	23	c.173 others(42): Show c.1732-8245_1732-8223dupTTTTTTTTTTTTTTTTTTTTTTT	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18806048	T T	AGAGGCTG others(16): Show AGAGGCTGAACTGGACTTTTTAAC	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0033 a0001c0002t0001g0033	1	156	0.0064	23	c.232 others(38): Show c.2322+12596delTinsAGAGGCTGAACTGGACTTTTTAAC	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	17/25			chr7	TogoVar
HDAC9_chr7_18490749_19007416	18946036	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0138 a0001c0002t0006g0138	1	156	0.0064	23	c.293 others(42): Show c.2938-8094_2938-8072dupAAAAAAAAAAAAAAAAAAAAAAA	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	23/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDGF_chr1_156737109_156756675	156747250	G G	GCCCCTCC others(16): Show GCCCCTCCCCCCTCCCCCCCGCCC	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	342	0.0029	23	c.88- others(38): Show c.88-1878_88-1877insGGGCGGGGGGGAGGGGGGAGGGG	HDGF	ENSG00000143321.19	transcript	ENST00000357325.10	protein_coding	1/5			chr1	TogoVar
HDHD3_chr9_113368422_113381986	113381760	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00673.hp2 HG02976.hp2 HG00673.hp2 HG02976.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0008 a0001c0001t0001 a0002c0002t0008	a0001c0001t0001g0001 a0002c0002t0008g0032 a0001c0001t0001g0001 a0002c0002t0008g0032	2	464	0.0043	23	c.-53 others(34): Show c.-5323_-5322insAAAAAAAAAAAAAAAAAAAAAAA	HDHD3	ENSG00000119431.10	transcript	ENST00000374180.4	protein_coding		4775		chr9	TogoVar
HEATR4_chr14_73473484_73563947	73506804	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02451.hp2 NA18994.hp1 HG02257.hp1 HG02451.hp2 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0002 a0001c0009t0005 a0001c0002t0002 a0001c0009t0005	a0001c0002t0002g0348 a0001c0009t0005g0005 a0001c0009t0005g0007 a0001c0002t0002g0348 a0001c0009t0005g0005 a0001c0009t0005g0007	3	368	0.0082	23	c.188 others(40): Show c.1882-234_1882-233insAAAAAAAAAAAAAAAAAAAAAAA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	9/17			chr14	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0166 a0002c0003t0002g0166	1	314	0.0032	23	c.591 others(42): Show c.5912-2422_5912-2421insATATTTTTTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18970.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0099 a0002c0003t0002g0099	1	314	0.0032	23	c.591 others(42): Show c.5912-2422_5912-2421insATATATTTTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02129.hp2 HG02056.hp2 HG02129.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0237 a0001c0002t0001g0240 a0001c0002t0001g0237 a0001c0002t0001g0240	2	314	0.0064	23	c.591 others(42): Show c.5912-2422_5912-2421insATATATATTTTTTTTTTTTTTTT	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HECTD1_chr14_31095117_31212793	31096676	C C	CATTATAT others(16): Show CATTATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0318 a0001c0002t0001g0318	1	342	0.0029	23	c.42 others(34): Show c.4253_*4254insATATATATATATATATATATAAT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding		3440		chr14	TogoVar
HECTD1_chr14_31095117_31212793	31134042	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03130.hp1 HG03139.hp1 others(2): Show HG02280.hp1 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03453.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0233 a0001c0002t0001g0312 a0001c0002t0001g0316 others(2): Show a0001c0002t0001g0233 a0001c0002t0001g0312 a0001c0002t0001g0316 a0001c0002t0001g0318 a0001c0002t0001g0319	5	342	0.0146	23	c.357 others(40): Show c.3579-368_3579-367insTTTTTTTTTTTTTTTTTTTTTTT	HECTD1	ENSG00000092148.14	transcript	ENST00000399332.6	protein_coding	22/42			chr14	TogoVar
HECTD4_chr12_112155195_112387431	112323969	C C	CTTTCTTT others(16): Show CTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0002 a0002	a0002c0026 a0002c0026	a0002c0026t0001 a0002c0026t0001	a0002c0026t0001g0215 a0002c0026t0001g0215	1	270	0.0037	23	c.178 others(40): Show c.178-4228_178-4227insAAAGAAAGAAAGAAAGAAAGAAA	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECW2_chr2_196189072_196598554	196517522	T T	TTGATTGA others(16): Show TTGATTGATTGATTACTTGATTGA	intron_variant intron_variant	MODIFIER	HG02683.hp2 HG03834.hp2 NA20752.hp2 HG02683.hp2 HG03834.hp2 NA20752.hp2	a0001 a0001	a0001c0002 a0001c0009 a0001c0002 a0001c0009	a0001c0002t0001 a0001c0009t0006 a0001c0002t0001 a0001c0009t0006	a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0009t0006g0048 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0009t0006g0048	3	112	0.0268	23	c.-36 others(42): Show c.-36+75985_-36+75986insTCAATCAAGTAATCAATCAATCA	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28			chr2	TogoVar
HELB_chr12_66297493_66343199	66327054	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0004 a0004	a0004c0035 a0004c0035	a0004c0035t0001 a0004c0035t0001	a0004c0035t0001g0183 a0004c0035t0001g0183	1	390	0.0026	23	c.267 others(42): Show c.2670+1928_2670+1929insTATATATATATATATATATATAT	HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	11/12			chr12	TogoVar
HELQ_chr4_83402346_83460823	83405907	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 NA18906.hp2 HG03471.hp2 NA18906.hp2	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0001 a0006c0008t0001	a0006c0008t0001g0117 a0006c0008t0001g0119 a0006c0008t0001g0117 a0006c0008t0001g0119	2	316	0.0063	23	c.15 others(34): Show c.1545_*1546insTTTTTTTTTTTTTTTTTTTTTTT	HELQ	ENSG00000163312.11	transcript	ENST00000295488.8	protein_coding		1438		chr4	TogoVar
HELT_chr4_185013490_185025953	185023078	T T	TCTCTCTC others(16): Show TCTCTCTCTCTCTCTCTCTCTCCC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG00597.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	454	0.0022	23	c.23 others(34): Show c.2306_*2307insCTCTCTCTCTCTCTCTCTCTCCC	HELT	ENSG00000187821.9	transcript	ENST00000515777.6	protein_coding		2126		chr4	TogoVar
HEPHL1_chr11_94016354_94119208	94042875	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	368	0.0027	23	c.171 others(40): Show c.171-2780_171-2779insAAAAAAAAAAAAAAAAAAAAAAA	HEPHL1	ENSG00000181333.12	transcript	ENST00000315765.10	protein_coding	1/19		INFO_REALIGN_3_PRIME	chr11	TogoVar
HERC1_chr15_63603618_63838948	63720103	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01106.hp1 HG02055.hp2 others(14): Show HG00741.hp2 HG01106.hp1 HG02055.hp2 HG02129.hp1 HG02615.hp2 HG02647.hp1 HG02809.hp2 HG02818.hp1 HG02895.hp2 HG02970.hp2 HG03579.hp2 HG03834.hp2 NA18961.hp2 NA18967.hp1 NA19067.hp1 NA19070.hp1 NA21309.hp2	a0001 a0006 a0015 a0001 a0006 a0015	a0001c0001 a0001c0006 a0001c0008 others(5): Show a0001c0001 a0001c0006 a0001c0008 a0001c0011 a0001c0013 a0001c0027 a0006c0016 a0015c0032	a0001c0001t0001 a0001c0006t0001 a0001c0008t0001 others(5): Show a0001c0001t0001 a0001c0006t0001 a0001c0008t0001 a0001c0011t0001 a0001c0013t0001 a0001c0027t0001 a0006c0016t0001 a0015c0032t0001	a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0127 others(14): Show a0001c0001t0001g0116 a0001c0001t0001g0120 a0001c0001t0001g0127 a0001c0001t0001g0134 a0001c0001t0001g0155 a0001c0001t0001g0170 a0001c0001t0001g0173 a0001c0001t0001g0186 a0001c0001t0001g0192 a0001c0001t0001g0193 a0001c0006t0001g0129 a0001c0008t0001g0146 a0001c0011t0001g0133 a0001c0013t0001g0172 a0001c0027t0001g0153 a0006c0016t0001g0123 a0015c0032t0001g0109	17	216	0.0787	23	c.374 others(42): Show c.3743-1207_3743-1206insAAAAAAAAAAAAAAAAAAAAAAA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	19/77			chr15	TogoVar
HERC4_chr10_67916905_68080283	68059554	T T	TATATCAT others(16): Show TATATCATAATATTATATATCATA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0036 a0001c0001t0001g0036	1	360	0.0028	23	c.226 others(42): Show c.226+13328_226+13329insTATGATATATAATATTATGATAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059721	T T	TATATTAT others(16): Show TATATTATAATATTATATATCATA	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03239.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	360	0.0028	23	c.226 others(42): Show c.226+13161_226+13162insTATGATATATAATATTATAATAT	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HES1_chr3_194131148_194143732	194141600	G G	GCGGCGGG others(16): Show GCGGCGGGGGAGAGGGGCGGGAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	434	0.0023	23	c.33 others(34): Show c.3367_*3368insCGGCGGGGGAGAGGGGCGGGAGC	HES1	ENSG00000114315.4	transcript	ENST00000232424.4	protein_coding		2869		chr3	TogoVar
HEXD_chr17_82413347_82447645	82433077	G G	GAAAAAAA others(16): Show GAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0052 a0002c0004t0001g0052	1	400	0.0025	23	c.283 others(38): Show c.283-566_283-565insAAAAAAAAAAAAAAAAAAAAAAA	HEXD	ENSG00000169660.17	transcript	ENST00000327949.15	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr17	TogoVar
HEY1_chr8_79759010_79772767	79769371	A A	ATCTTTTT others(16): Show ATCTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp1 HG00140.hp2 HG00621.hp1 others(31): Show HG00140.hp1 HG00140.hp2 HG00621.hp1 HG00733.hp1 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01175.hp1 HG01175.hp2 HG01978.hp2 HG02040.hp1 HG02165.hp1 HG02273.hp1 HG02735.hp2 HG03239.hp1 HG03654.hp2 NA18940.hp2 NA18941.hp1 NA18945.hp1 NA18956.hp1 NA18959.hp2 NA18962.hp1 NA18971.hp2 NA18973.hp2 NA18975.hp2 NA18983.hp1 NA18987.hp2 NA18990.hp1 NA19000.hp1 NA19062.hp1 NA19064.hp1 NA19067.hp1 NA19077.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0002g0010	34	460	0.0739	23	c.-17 others(34): Show c.-1709_-1708insAAAAAAAAAAAAAAAAAAAAAGA	HEY1	ENSG00000164683.19	transcript	ENST00000354724.8	protein_coding		1605		chr8	TogoVar
HFE_chr6_26082429_26103343	26102871	T T	TTAACCAG others(16): Show TTAACCAGAGAGTGGTGGGTGGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0006 a0001c0001t0006g0006	1	402	0.0025	23	c.86 others(34): Show c.8645_*8646insTAACCAGAGAGTGGTGGGTGGGG	HFE	ENSG00000010704.19	transcript	ENST00000357618.10	protein_coding		4529		chr6	TogoVar
HFM1_chr1_91255766_91409837	91264361	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp2 HG03239.hp1 HG03654.hp1 others(1): Show HG00735.hp2 HG03239.hp1 HG03654.hp1 NA19005.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0203 a0001c0001t0001g0222 a0001c0001t0001g0237 others(1): Show a0001c0001t0001g0203 a0001c0001t0001g0222 a0001c0001t0001g0237 a0001c0001t0001g0301	4	362	0.0111	23	c.397 others(42): Show c.3974+1633_3974+1655dupAAAAAAAAAAAAAAAAAAAAAAA	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding	36/38			chr1	TogoVar
HFM1_chr1_91255766_91409837	91289852	A A	AAGAGGGA others(16): Show AAGAGGGAGAGGGAGACGAGAGGG	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0009 a0009	a0009c0019 a0009c0019	a0009c0019t0001 a0009c0019t0001	a0009c0019t0001g0053 a0009c0019t0001g0053	1	362	0.0028	23	c.339 others(44): Show c.3392-12813_3392-12791dupCCCTCTCGTCTCCCTCTCCCTCT	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding	30/38			chr1	TogoVar
HFM1_chr1_91255766_91409837	91408602	C C	CCCTTCTC others(16): Show CCCTTCTCTTTCTTTTCCCTCCTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0206	1	362	0.0028	23	c.-38 others(34): Show c.-3833_-3832insTAGGAGGGAAAAGAAAGAGAAGG	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding		3766		chr1	TogoVar
HHAT_chr1_210323902_210681290	210334178	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG01261.hp1 HG02717.hp1 others(7): Show HG00609.hp1 HG01261.hp1 HG02717.hp1 HG02723.hp1 HG02723.hp2 HG03195.hp1 HG03669.hp1 NA18969.hp2 NA19007.hp2 NA19080.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0008	a0001c0001 a0001c0002 a0002c0003 others(3): Show a0001c0001 a0001c0002 a0002c0003 a0002c0009 a0003c0007 a0008c0010	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0002c0003t0001 a0002c0003t0002 a0002c0003t0020 a0002c0009t0001 a0003c0007t0004 a0008c0010t0002	a0001c0001t0001g0130 a0001c0001t0002g0132 a0001c0002t0002g0229 others(7): Show a0001c0001t0001g0130 a0001c0001t0002g0132 a0001c0002t0002g0229 a0002c0003t0001g0267 a0002c0003t0002g0264 a0002c0003t0002g0265 a0002c0003t0020g0263 a0002c0009t0001g0266 a0003c0007t0004g0133 a0008c0010t0002g0131	10	268	0.0373	23	c.-44 others(40): Show c.-44+5094_-44+5095insTTTTTTTTTTTTTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210336287	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19005.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0116 a0001c0001t0002g0116	1	268	0.0037	23	c.-44 others(40): Show c.-44+7184_-44+7206dupTTTTTTTTTTTTTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210386230	C C	CTTTCTTT others(16): Show CTTTCTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01884.hp2 HG04184.hp2 HG01074.hp2 HG01884.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0014 a0001c0001t0002g0086 a0001c0001t0002g0205 a0001c0001t0001g0014 a0001c0001t0002g0086 a0001c0001t0002g0205	3	268	0.0112	23	c.160 others(40): Show c.160-1235_160-1234insCTTTTTTTTTTTTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210494542	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18961.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0061 a0001c0002t0003g0061	1	268	0.0037	23	c.100 others(44): Show c.1008-18606_1008-18584dupTTTTTTTTTTTTTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210526367	G G	GTTTTGTT others(16): Show GTTTTGTTTTGTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0224	1	268	0.0037	23	c.104 others(44): Show c.1043+13183_1043+13184insGTTTTGTTTTGTTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HHAT_chr1_210323902_210681290	210569373	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0146 a0001c0001t0003g0146	1	268	0.0037	23	c.104 others(44): Show c.1044-18521_1044-18499dupAAAAAAAAAAAAAAAAAAAAAAA	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	9/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HIBADH_chr7_27520442_27667883	27527917	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0169 a0001c0001t0001g0169	1	326	0.0031	23	c.853 others(40): Show c.853-1546_853-1545insAAAAAAAAAAAAAAAAAAAAAAA	HIBADH	ENSG00000106049.9	transcript	ENST00000265395.7	protein_coding	7/7			chr7	TogoVar
HIBADH_chr7_27520442_27667883	27638308	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG01891.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0036 a0001c0005t0001g0036	1	326	0.0031	23	c.253 others(40): Show c.253-5864_253-5863insTTTTTTTTTTTTTTTTTTTTTTT	HIBADH	ENSG00000106049.9	transcript	ENST00000265395.7	protein_coding	2/7			chr7	TogoVar
HIF1A_chr14_61690513_61753258	61724381	C C	CTCTCTCT others(16): Show CTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	322	0.0031	23	c.458 others(40): Show c.458-2325_458-2324insTCTCTCTCTCTCTCTCTCTCTCT	HIF1A	ENSG00000100644.17	transcript	ENST00000337138.9	protein_coding	4/14			chr14	TogoVar
HIGD1A_chr3_42777908_42809490	42805124	G G	GACAATTG others(16): Show GACAATTGCTTCAGAGCCTTGGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18992.hp1 NA18992.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0129 a0001c0001t0002g0129	1	400	0.0025	23	c.-73 others(32): Show c.-734_-712dupTTCCAAGGCTCTGAAGCAATTGT	HIGD1A	ENSG00000181061.14	transcript	ENST00000321331.12	protein_coding		635		chr3	TogoVar
HIGD2B_chr15_72670798_72691182	72688411	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	436	0.0023	23	c.-27 others(34): Show c.-2787_-2786insAAAAAAAAAAAAAAAAAAAAAAA	HIGD2B	ENSG00000175202.6	transcript	ENST00000311755.6	protein_coding		2230		chr15	TogoVar
HIKESHI_chr11_86297240_86350943	86318303	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01517.hp2 HG01975.hp2 others(9): Show HG00408.hp1 HG01517.hp2 HG01975.hp2 HG02015.hp2 HG02027.hp1 HG03041.hp1 NA18954.hp1 NA19058.hp1 NA19067.hp2 NA19074.hp2 NA19077.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0047 others(9): Show a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0050 a0001c0001t0001g0116 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0188 a0001c0001t0001g0257 a0001c0001t0001g0272 a0001c0001t0001g0275	12	398	0.0302	23	c.268 others(42): Show c.268+11841_268+11842insAAAAAAAAAAAAAAAAAAAAAAA	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIPK3_chr11_33252381_33362023	33310281	T T	TATCTATC others(16): Show TATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18982.hp1 NA18970.hp2 NA18982.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0175 a0001c0001t0001g0173 a0001c0001t0001g0175	2	342	0.0059	23	c.109 others(44): Show c.1098-18229_1098-18228insATCTATCTATCTATCTATCTATC	HIPK3	ENSG00000110422.12	transcript	ENST00000303296.9	protein_coding	2/16			chr11	TogoVar
HIRA_chr22_19325698_19436733	19390601	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02922.hp1 HG03098.hp1 HG02886.hp1 HG02922.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0342 a0001c0001t0003g0345 a0001c0001t0003g0346 a0001c0001t0003g0342 a0001c0001t0003g0345 a0001c0001t0003g0346	3	364	0.0082	23	c.936 others(40): Show c.936+1477_936+1499dupTTTTTTTTTTTTTTTTTTTTTTT	HIRA	ENSG00000100084.14	transcript	ENST00000263208.5	protein_coding	9/24			chr22	TogoVar
HIVEP1_chr6_12007312_12169999	12090735	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0079 a0007c0012t0001g0079	1	344	0.0029	23	c.94+ others(38): Show c.94+1500_94+1522dupTTTTTTTTTTTTTTTTTTTTTTT	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr6	TogoVar
HIVEP1_chr6_12007312_12169999	12141691	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG03225.hp2 HG02258.hp1 HG03225.hp2	a0006 a0006	a0006c0009 a0006c0009	a0006c0009t0001 a0006c0009t0001	a0006c0009t0001g0155 a0006c0009t0001g0316 a0006c0009t0001g0155 a0006c0009t0001g0316	2	344	0.0058	23	c.648 others(42): Show c.6487+5806_6487+5828dupAAAAAAAAAAAAAAAAAAAAAAA	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding	7/8		INFO_REALIGN_3_PRIME	chr6	TogoVar

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