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
UBR5_chr8_102247273_102417700	102387719	A A	AAAATGGA others(27): Show AAAATGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0226 a0001c0001t0001g0226	1	328	0.0031	34	c.62+ others(51): Show c.62+24453_62+24454insCCTTCCTTCCTTCCTTCCTTCCTTCCTT CCATTT	UBR5	ENSG00000104517.13	transcript	ENST00000520539.6	protein_coding	1/58			chr8	TogoVar
UBTFL1_chr11_90080950_90092131	90082759	C C	CCTTCCTT others(27): Show CCTTCCTTCCTTTCTTTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp2 NA18946.hp2 HG00558.hp2 NA18946.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0000 a0004c0004t0000	a0004c0004t0000g0000 a0004c0004t0000g0000	2	276	0.0073	34	c.-31 others(45): Show c.-3191_-3190insCTTCCTTCCTTTCTTTTTCTTTCTTTCTTTCTTT	UBTFL1	ENSG00000255009.4	transcript	ENST00000530464.2	protein_coding		3190		chr11	TogoVar
UBTFL1_chr11_90080950_90092131	90082759	C C	CCTTCCTT others(27): Show CCTTCCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01934.hp2 HG02165.hp2 HG01934.hp2 HG02165.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0000 a0004c0004t0000	a0004c0004t0000g0000 a0004c0004t0000g0000	2	276	0.0073	34	c.-31 others(45): Show c.-3191_-3190insCTTCCTTTCTTTTTCTTTCTTTCTTTCTTTCTTT	UBTFL1	ENSG00000255009.4	transcript	ENST00000530464.2	protein_coding		3190		chr11	TogoVar
UBXN2B_chr8_58406361_58456501	58441348	C C	CATATATA others(27): Show CATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG02109.hp2 HG02602.hp1 others(5): Show HG00558.hp2 HG02109.hp2 HG02602.hp1 HG03486.hp2 HG03492.hp1 HG03579.hp2 NA19006.hp2 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0005 a0001c0001t0006	a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0257 others(5): Show a0001c0001t0005g0255 a0001c0001t0005g0256 a0001c0001t0005g0257 a0001c0001t0005g0260 a0001c0001t0005g0273 a0001c0001t0005g0280 a0001c0001t0006g0154 a0001c0001t0006g0167	8	414	0.0193	34	c.671 others(51): Show c.671+1598_671+1599insATATATATATATATATATATATATATAT ATATAT	UBXN2B	ENSG00000215114.10	transcript	ENST00000399598.7	protein_coding	6/7		INFO_REALIGN_3_PRIME	chr8	TogoVar
UBXN7_chr3_196342662_196437427	196372300	T T	TTCTCTCT others(27): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0105 a0001c0001t0003g0105	1	274	0.0037	34	c.469 others(49): Show c.469-259_469-258insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAGA	UBXN7	ENSG00000163960.12	transcript	ENST00000296328.9	protein_coding	5/10			chr3	TogoVar
UCHL3_chr13_75544791_75611020	75592446	A A	ATACATAT others(27): Show ATACATATATACATATATATATATATGTATATATG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01169.hp1 HG01243.hp2 others(6): Show HG01168.hp1 HG01169.hp1 HG01243.hp2 HG01261.hp1 HG01261.hp2 HG03710.hp2 HG04115.hp1 HG04228.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0217 a0001c0001t0001g0248 others(4): Show a0001c0001t0001g0003 a0001c0001t0001g0217 a0001c0001t0001g0248 a0001c0001t0001g0265 a0001c0001t0001g0271 a0001c0001t0001g0306 a0001c0001t0001g0307	9	326	0.0276	34	c.475 others(51): Show c.475-2467_475-2466insCATATATACATATATATATATATGTATA TATGTA	UCHL3	ENSG00000118939.19	transcript	ENST00000377595.8	protein_coding	6/8		INFO_REALIGN_3_PRIME	chr13	TogoVar
UCN3_chr10_5359966_5379692	5369987	A A	ATGCGTGT others(27): Show ATGCGTGTATATGTGTGTATATGTGTGTGTATATG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0098 a0001c0002t0007g0098	1	468	0.0021	34	c.-6- others(49): Show c.-6-3726_-6-3725insCGTGTATATGTGTGTATATGTGTGTGTATA TGTG	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCN3_chr10_5359966_5379692	5370163	A A	ATATGCGT others(27): Show ATATGCGTGTGTATATGCGTGTGTATGTGCGTGTG	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02886.hp1 HG02486.hp2 HG02886.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0241 a0002c0001t0002g0242 a0002c0001t0002g0241 a0002c0001t0002g0242	2	468	0.0043	34	c.-6- others(49): Show c.-6-3548_-6-3547insCGTGTGTATATGCGTGTGTATGTGCGTGTG TATG	UCN3	ENSG00000178473.7	transcript	ENST00000380433.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr10	TogoVar
UCP3_chr11_73995277_74014085	74013491	T T	TCTCTCTC others(27): Show TCTCTCTCAACAACAACAACGGAGGAGGAGGAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp2 HG02132.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	446	0.0022	34	c.-46 others(45): Show c.-4610_-4609insTTTTCCTCCTCCTCCGTTGTTGTTGTTGAGAGAG	UCP3	ENSG00000175564.13	transcript	ENST00000314032.9	protein_coding		4407		chr11	TogoVar
UEVLD_chr11_18524609_18593734	18560090	T T	TACACACA others(27): Show TACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18972.hp2 NA18993.hp2 others(2): Show NA18944.hp2 NA18972.hp2 NA18993.hp2 NA19056.hp1 NA19058.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0021 a0001c0002t0003 a0001c0002t0021	a0001c0002t0003g0014 a0001c0002t0003g0057 a0001c0002t0003g0069 others(2): Show a0001c0002t0003g0014 a0001c0002t0003g0057 a0001c0002t0003g0069 a0001c0002t0003g0075 a0001c0002t0021g0083	5	400	0.0125	34	c.613 others(51): Show c.613-1794_613-1761dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	UEVLD	ENSG00000151116.17	transcript	ENST00000396197.8	protein_coding	6/11			chr11	TogoVar
UEVLD_chr11_18524609_18593734	18560138	C C	CACACACA others(27): Show CACACACACACACACACACACACACACACACACAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02735.hp1 HG04204.hp1 others(2): Show HG02630.hp2 HG02735.hp1 HG04204.hp1 NA18906.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0200 others(2): Show a0001c0001t0001g0192 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0217 a0001c0001t0001g0261	5	400	0.0125	34	c.613 others(51): Show c.613-1809_613-1808insCTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGT	UEVLD	ENSG00000151116.17	transcript	ENST00000396197.8	protein_coding	6/11			chr11	TogoVar
UFSP2_chr4_185394537_185430964	185418047	A A	AACACACA others(27): Show AACACACACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02922.hp2 NA19043.hp2 HG02809.hp2 HG02922.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0027 a0001c0001t0005g0099 a0001c0001t0005g0027 a0001c0001t0005g0099	3	300	0.0100	34	c.333 others(49): Show c.333+393_333+394insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGT	UFSP2	ENSG00000109775.11	transcript	ENST00000264689.11	protein_coding	4/11			chr4	TogoVar
UGCG_chr9_111891814_111940369	111921802	A A	ATTTTTTT others(27): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0012 a0001c0002t0012	a0001c0002t0012g0085 a0001c0002t0012g0085	1	424	0.0024	34	c.241 others(51): Show c.241-1021_241-1020insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTT	UGCG	ENSG00000148154.10	transcript	ENST00000374279.4	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr9	TogoVar
UGGT1_chr2_128086200_128200677	128112454	T T	TTATATAT others(27): Show TTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp1 HG00735.hp2 others(11): Show HG00408.hp1 HG00544.hp1 HG00735.hp2 HG02027.hp1 HG02486.hp1 HG02572.hp2 HG02970.hp2 NA18948.hp2 NA19010.hp1 NA19056.hp2 NA19067.hp2 NA19084.hp2 NA20805.hp2 NA20905.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0001c0004 others(1): Show a0001c0001 a0001c0003 a0001c0004 a0003c0006	a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 others(7): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0017 a0001c0001t0061 a0001c0003t0002 a0001c0003t0007 a0001c0004t0001 a0001c0004t0004 a0001c0004t0063 a0003c0006t0002	a0001c0001t0001g0049 a0001c0001t0001g0068 a0001c0001t0001g0075 others(11): Show a0001c0001t0001g0049 a0001c0001t0001g0068 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0091 a0001c0001t0004g0060 a0001c0001t0017g0092 a0001c0001t0061g0048 a0001c0003t0002g0219 a0001c0003t0007g0175 a0001c0004t0001g0082 a0001c0004t0004g0041 a0001c0004t0063g0157 a0003c0006t0002g0178	14	332	0.0422	34	c.522 others(49): Show c.522-611_522-610insATATATATATATATATATATATATATATAT ATAT	UGGT1	ENSG00000136731.13	transcript	ENST00000259253.11	protein_coding	5/40		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGGT1_chr2_128086200_128200677	128196907	G G	GGGGGGTT others(27): Show GGGGGGTTCCTGTTTATACATAAGGCAGATTCCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp2 HG00140.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0054 a0001c0001t0054	a0001c0001t0054g0079 a0001c0001t0054g0079	1	332	0.0030	34	c.71 others(45): Show c.7165_*7166insGGGGGTTCCTGTTTATACATAAGGCAGATTCCAT	UGGT1	ENSG00000136731.13	transcript	ENST00000259253.11	protein_coding		1231		chr2	TogoVar
UGT1A10_chr2_233631448_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0153	1	302	0.0033	34	c.856 others(51): Show c.856-9490_856-9489insCATATACATATACATATATATATATATA TATATA	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A10_chr2_233631448_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03669.hp1 HG03688.hp1 others(2): Show HG02738.hp2 HG03669.hp1 HG03688.hp1 NA18942.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0133 a0001c0001t0001g0145 others(2): Show a0001c0001t0001g0007 a0001c0001t0001g0133 a0001c0001t0001g0145 a0001c0001t0001g0152 a0001c0001t0001g0230	5	302	0.0166	34	c.856 others(51): Show c.856-9490_856-9489insCATATACATATATATATATATATATATA TATATA	UGT1A10	ENSG00000242515.6	transcript	ENST00000344644.10	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A1_chr2_233755270_233778300	233757535	A A	AATATATA others(27): Show AATATATAAACATATACATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	412	0.0024	34	c.-27 others(45): Show c.-2753_-2752insATATATAAACATATACATATATATATATATATAT	UGT1A1	ENSG00000241635.8	transcript	ENST00000305208.10	protein_coding		2734		chr2	TogoVar
UGT1A1_chr2_233755270_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATACATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	412	0.0024	34	c.-27 others(45): Show c.-2753_-2752insATATATATACATATACATATACATATATATATAT	UGT1A1	ENSG00000241635.8	transcript	ENST00000305208.10	protein_coding		2734		chr2	TogoVar
UGT1A1_chr2_233755270_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG03669.hp2 HG03688.hp2 others(3): Show HG02738.hp1 HG03669.hp2 HG03688.hp2 NA18942.hp1 NA18944.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0077 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0077	6	412	0.0146	34	c.-27 others(45): Show c.-2753_-2752insATATATATACATATACATATATATATATATATAT	UGT1A1	ENSG00000241635.8	transcript	ENST00000305208.10	protein_coding		2734		chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233757535	A A	AATATATA others(27): Show AATATATAAACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0186 a0002c0002t0001g0186	1	350	0.0029	34	c.868 others(51): Show c.868-9492_868-9491insAACATATACATATATATATATATATATA TATATA	UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0205 a0002c0002t0001g0205	1	350	0.0029	34	c.868 others(51): Show c.868-9490_868-9489insCATATACATATACATATATATATATATA TATATA	UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A3_chr2_233724042_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03669.hp2 HG03688.hp2 others(3): Show HG02738.hp2 HG03669.hp2 HG03688.hp2 NA18942.hp2 NA18944.hp1 NA19012.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0001 a0001c0001t0002 a0002c0002t0001	a0001c0001t0002g0114 a0002c0002t0001g0158 a0002c0002t0001g0160 others(3): Show a0001c0001t0002g0114 a0002c0002t0001g0158 a0002c0002t0001g0160 a0002c0002t0001g0167 a0002c0002t0001g0176 a0002c0002t0001g0214	6	350	0.0171	34	c.868 others(51): Show c.868-9490_868-9489insCATATACATATATATATATATATATATA TATATA	UGT1A3	ENSG00000288702.1	transcript	ENST00000482026.6	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233757535	A A	AATATATA others(27): Show AATATATAAACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	332	0.0030	34	c.868 others(51): Show c.868-9492_868-9491insAACATATACATATATATATATATATATA TATATA	UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0106 a0001c0001t0001g0106	1	332	0.0030	34	c.868 others(51): Show c.868-9490_868-9489insCATATACATATACATATATATATATATA TATATA	UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A4_chr2_233713736_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03669.hp2 HG03688.hp1 others(3): Show HG02738.hp1 HG03669.hp2 HG03688.hp1 NA18942.hp1 NA18944.hp2 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0067 others(3): Show a0001c0001t0001g0054 a0001c0001t0001g0057 a0001c0001t0001g0067 a0001c0001t0001g0083 a0001c0001t0001g0109 a0001c0001t0001g0239	6	332	0.0181	34	c.868 others(51): Show c.868-9490_868-9489insCATATACATATATATATATATATATATA TATATA	UGT1A4	ENSG00000244474.6	transcript	ENST00000373409.8	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233757535	A A	AATATATA others(27): Show AATATATAAACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0140 a0001c0001t0001g0140	1	330	0.0030	34	c.868 others(51): Show c.868-9492_868-9491insAACATATACATATATATATATATATATA TATATA	UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	330	0.0030	34	c.868 others(51): Show c.868-9490_868-9489insCATATACATATACATATATATATATATA TATATA	UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A5_chr2_233707907_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03669.hp1 HG03688.hp1 others(3): Show HG02738.hp1 HG03669.hp1 HG03688.hp1 NA18942.hp2 NA18944.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0111 others(3): Show a0001c0001t0001g0100 a0001c0001t0001g0102 a0001c0001t0001g0111 a0001c0001t0001g0123 a0001c0001t0001g0145 a0001c0002t0001g0251	6	330	0.0182	34	c.868 others(51): Show c.868-9490_868-9489insCATATACATATATATATATATATATATA TATATA	UGT1A5	ENSG00000288705.1	transcript	ENST00000373414.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233757535	A A	AATATATA others(27): Show AATATATAAACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0036 a0002c0002t0001g0036	1	332	0.0030	34	c.862 others(51): Show c.862-9492_862-9491insAACATATACATATATATATATATATATA TATATA	UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A6_chr2_233687890_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03669.hp2 HG03688.hp2 others(2): Show HG02738.hp1 HG03669.hp2 HG03688.hp2 NA18942.hp1 NA18944.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0152 a0002c0002t0001g0013 a0002c0002t0001g0026 others(2): Show a0001c0001t0001g0152 a0002c0002t0001g0013 a0002c0002t0001g0026 a0002c0002t0001g0038 a0002c0002t0001g0299	5	332	0.0151	34	c.862 others(51): Show c.862-9490_862-9489insCATATACATATATATATATATATATATA TATATA	UGT1A6	ENSG00000167165.19	transcript	ENST00000305139.11	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233757535	A A	AATATATA others(27): Show AATATATAAACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0046 a0002c0002t0001g0046	1	320	0.0031	34	c.856 others(51): Show c.856-9492_856-9491insAACATATACATATATATATATATATATA TATATA	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0063 a0002c0002t0001g0063	1	320	0.0031	34	c.856 others(51): Show c.856-9490_856-9489insCATATACATATACATATATATATATATA TATATA	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A7_chr2_233676901_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03669.hp2 HG03688.hp1 others(3): Show HG02738.hp1 HG03669.hp2 HG03688.hp1 NA18942.hp1 NA18944.hp2 NA19012.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0207 a0001c0001t0001g0208 a0002c0002t0001g0019 others(3): Show a0001c0001t0001g0207 a0001c0001t0001g0208 a0002c0002t0001g0019 a0002c0002t0001g0043 a0002c0002t0001g0054 a0002c0002t0001g0065	6	320	0.0188	34	c.856 others(51): Show c.856-9490_856-9489insCATATACATATATATATATATATATATA TATATA	UGT1A7	ENSG00000244122.3	transcript	ENST00000373426.4	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0173	1	290	0.0035	34	c.856 others(51): Show c.856-9490_856-9489insCATATACATATACATATATATATATATA TATATA	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A8_chr2_233612633_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG03669.hp2 HG03688.hp2 others(1): Show HG02738.hp1 HG03669.hp2 HG03688.hp2 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0157 a0001c0001t0001g0172 a0001c0001t0001g0209 others(1): Show a0001c0001t0001g0157 a0001c0001t0001g0172 a0001c0001t0001g0209 a0001c0001t0001g0272	4	290	0.0138	34	c.856 others(51): Show c.856-9490_856-9489insCATATACATATATATATATATATATATA TATATA	UGT1A8	ENSG00000242366.4	transcript	ENST00000373450.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233757535	A A	AATATATA others(27): Show AATATATAAACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0229	1	318	0.0031	34	c.856 others(51): Show c.856-9492_856-9491insAACATATACATATATATATATATATATA TATATA	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATACATATATATATAT	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0240 a0001c0001t0001g0240	1	318	0.0031	34	c.856 others(51): Show c.856-9490_856-9489insCATATACATATACATATATATATATATA TATATA	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT1A9_chr2_233666898_233778300	233757535	A A	AATATATA others(27): Show AATATATATACATATACATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02738.hp2 HG03669.hp2 HG03688.hp1 others(3): Show HG02738.hp2 HG03669.hp2 HG03688.hp1 NA18942.hp1 NA18944.hp2 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0219 others(3): Show a0001c0001t0001g0173 a0001c0001t0001g0174 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0231 a0001c0001t0001g0294	6	318	0.0189	34	c.856 others(51): Show c.856-9490_856-9489insCATATACATATATATATATATATATATA TATATA	UGT1A9	ENSG00000241119.2	transcript	ENST00000354728.5	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr2	TogoVar
UGT3A2_chr5_36030021_36071882	36067865	G G	GAGAGAGA others(27): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01358.hp1 HG01952.hp2 others(5): Show HG01081.hp1 HG01358.hp1 HG01952.hp2 HG03669.hp2 HG04199.hp1 NA18522.hp1 NA18974.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0126 a0001c0001t0002g0002 a0001c0001t0002g0038 others(4): Show a0001c0001t0001g0126 a0001c0001t0002g0002 a0001c0001t0002g0038 a0001c0001t0002g0121 a0001c0001t0002g0123 a0001c0001t0003g0011 a0001c0001t0003g0045	8	410	0.0195	34	c.-10 others(45): Show c.-1077_-1076insTTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	UGT3A2	ENSG00000168671.10	transcript	ENST00000282507.8	protein_coding		984		chr5	TogoVar
UGT8_chr4_114593807_114683225	114611431	T T	TATACATA others(27): Show TATACATATATATATATATACATATATATATACAC	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG03540.hp1 HG01257.hp2 HG03540.hp1	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0014 a0001c0007t0019 a0001c0007t0014 a0001c0007t0019	a0001c0007t0014g0255 a0001c0007t0019g0254 a0001c0007t0014g0255 a0001c0007t0019g0254	2	280	0.0071	34	c.-2- others(51): Show c.-2-11445_-2-11444insCATATATATATATATACATATATATATA CACATA	UGT8	ENSG00000174607.11	transcript	ENST00000310836.11	protein_coding	1/5		INFO_REALIGN_3_PRIME	chr4	TogoVar
UHRF2_chr9_6408199_6512054	6445981	C C	CTTTGTTT others(27): Show CTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	318	0.0031	34	c.644 others(53): Show c.644+11811_644+11812insGTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTT	UHRF2	ENSG00000147854.17	transcript	ENST00000276893.10	protein_coding	3/15		INFO_REALIGN_3_PRIME	chr9	TogoVar
ULK4_chr3_41241599_41967103	41831531	A A	ATATATAT others(27): Show ATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0001 a0006c0005t0001	a0006c0005t0001g0063 a0006c0005t0001g0063	1	72	0.0139	34	c.176 others(53): Show c.1764+4332_1764+4333insAAAAAAAAAAAAAAAATATATATATA TATATATA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	18/36			chr3	TogoVar
UMODL1_chr21_42066317_42147996	42100761	A A	ATGCCCTC others(27): Show ATGCCCTCCTCACCCTCCCCACCCCACCAACCCTG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02451.hp2 others(2): Show HG01070.hp2 HG01071.hp2 HG02451.hp2 HG03453.hp2 HG06807.hp2	a0030 a0039 a0030 a0039	a0030c0025 a0039c0036 a0030c0025 a0039c0036	a0030c0025t0013 a0039c0036t0001 a0030c0025t0013 a0039c0036t0001	a0030c0025t0013g0005 a0030c0025t0013g0368 a0039c0036t0001g0380 others(1): Show a0030c0025t0013g0005 a0030c0025t0013g0368 a0039c0036t0001g0380 a0039c0036t0001g0383	5	400	0.0125	34	c.118 others(53): Show c.1187-1379_1187-1346dupCCAACCCTGTGCCCTCCTCACCCTCC CCACCCCA	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMODL1_chr21_42066317_42147996	42100821	G G	GCAACCCC others(27): Show GCAACCCCGTGCCCTCCTCACCCTCCCCACCCCAC	intron_variant intron_variant	MODIFIER	NA18967.hp2 NA19078.hp2 NA18967.hp2 NA19078.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0165 a0002c0004t0001g0166 a0002c0004t0001g0165 a0002c0004t0001g0166	2	400	0.0050	34	c.118 others(53): Show c.1187-1279_1187-1246dupCACCAACCCCGTGCCCTCCTCACCCT CCCCACCC	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	7/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UMOD_chr16_20328051_20357715	20345400	T T	TTCTTTCT others(27): Show TTCTTTCTTTCTTTCTTTTCTTTCTTTCTTCTTTC	intron_variant intron_variant	MODIFIER	NA18981.hp1 NA18981.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0072 a0001c0003t0002g0072	1	404	0.0025	34	c.118 others(51): Show c.1182+725_1182+726insGAAAGAAGAAAGAAAGAAAAGAAAGAAA GAAAGA	UMOD	ENSG00000169344.16	transcript	ENST00000396138.9	protein_coding	5/10			chr16	TogoVar
UNC13B_chr9_35157009_35410335	35183200	C C	CGGGGTGG others(27): Show CGGGGTGGCCGGGCAGAGGCGCTCCCCACCTCCCA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0008 a0004c0005t0008	a0004c0005t0008g0172 a0004c0005t0008g0172	1	224	0.0045	34	c.22+ others(51): Show c.22+20896_22+20897insGGGTGGCCGGGCAGAGGCGCTCCCCACC TCCCAG	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	1/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(27): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01433.hp2 HG01175.hp1 HG01433.hp2	a0006 a0008 a0006 a0008	a0006c0008 a0008c0012 a0006c0008 a0008c0012	a0006c0008t0002 a0008c0012t0001 a0006c0008t0002 a0008c0012t0001	a0006c0008t0002g0002 a0008c0012t0001g0107 a0006c0008t0002g0002 a0008c0012t0001g0107	2	224	0.0089	34	c.152 others(49): Show c.152+979_152+980insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	54186836	A A	AATATATA others(27): Show AATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0113 a0001c0001t0016g0113	1	158	0.0063	34	c.307 others(55): Show c.3071+43160_3071+43161insATATATATATATATATATATATAT ATATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	4/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54339640	G G	GATATATA others(27): Show GATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0086 a0001c0002t0022g0086	1	158	0.0063	34	c.471 others(53): Show c.4713+1175_4713+1176insATATATATATATATATATATATATAT ATATATAT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	17/32		INFO_REALIGN_3_PRIME	chr15	TogoVar

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