JoGo: Joint Open Genome and Omics Platform

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.

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
HCN1_chr5_45249948_45701380	45374020	T T	AATATATA others(20): Show AATATATATTATATACATAATATATATT	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0053 a0001c0001t0003g0053	1	226	0.0044	27	c.123 others(48): Show c.1231-20774_1231-20773insATATATATTATGTATATAATATAT ATT	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN1_chr5_45249948_45701380	45374092	G G	GTATATAA others(20): Show GTATATAATATATATTATATACATAATA	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01361.hp2 HG02257.hp1 HG01192.hp2 HG01361.hp2 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0025 a0001c0001t0026 a0001c0001t0001 a0001c0001t0025 a0001c0001t0026	a0001c0001t0001g0159 a0001c0001t0025g0217 a0001c0001t0026g0071 a0001c0001t0001g0159 a0001c0001t0025g0217 a0001c0001t0026g0071	3	226	0.0133	27	c.123 others(48): Show c.1231-20873_1231-20847dupTATTATGTATATAATATATATTAT ATA	HCN1	ENSG00000164588.8	transcript	ENST00000303230.6	protein_coding	4/7			chr5	TogoVar
HCN4_chr15_73314859_73373958	73316252	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18944.hp1 NA18944.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0028 a0001c0001t0028	a0001c0001t0028g0280 a0001c0001t0028g0280	1	344	0.0029	27	c.62 others(38): Show c.6228_*6229insATATATATATATATATATATATATATA	HCN4	ENSG00000138622.4	transcript	ENST00000261917.4	protein_coding		3606		chr15	TogoVar
HCRTR2_chr6_55169515_55287617	55241861	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0181 a0002c0002t0001g0181	1	368	0.0027	27	c.224 others(44): Show c.224-6755_224-6754insTTTTTTTTTTTTTTTTTTTTTTTTTTT	HCRTR2	ENSG00000137252.10	transcript	ENST00000370862.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr6	TogoVar
HDAC8_chrX_72324516_72577843	72453464	T T	TAAGAAAG others(20): Show TAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0078 a0001c0001t0001g0078	1	208	0.0048	27	c.100 others(46): Show c.1005+8539_1005+8540insCTTTCTTTCTTTCTTTCTTTCTTTCT T	HDAC8	ENSG00000147099.21	transcript	ENST00000373573.9	protein_coding	9/10			chrX	TogoVar
HDAC9_chr7_18490749_19007416	18719331	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18983.hp1 NA18983.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0049 a0001c0002t0049	a0001c0002t0049g0066 a0001c0002t0049g0066	1	156	0.0064	27	c.173 others(46): Show c.1732-8223_1732-8222insTTTTTTTTTTTTTTTTTTTTTTTTTT T	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	12/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18824044	G G	GGAAGAGG others(20): Show GGAAGAGGAAGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02056.hp2 NA18522.hp2 others(1): Show HG02055.hp2 HG02056.hp2 NA18522.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(1): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004	a0001c0001t0004 a0001c0002t0001 a0001c0003t0007 others(1): Show a0001c0001t0004 a0001c0002t0001 a0001c0003t0007 a0001c0004t0018	a0001c0001t0004g0118 a0001c0002t0001g0044 a0001c0003t0007g0030 others(1): Show a0001c0001t0004g0118 a0001c0002t0001g0044 a0001c0003t0007g0030 a0001c0004t0018g0145	4	156	0.0256	27	c.232 others(46): Show c.2323-5112_2323-5111insGGAAGAAGAAGAAGAAGAAGAAGAAG A	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18824044	G G	GGAAGAGG others(20): Show GGAAGAGGAAGAGGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01175.hp1 HG02280.hp2 others(4): Show HG01081.hp2 HG01175.hp1 HG02280.hp2 HG02602.hp1 HG03831.hp2 HG04199.hp2 NA18979.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(4): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0023 a0001c0002t0003 a0001c0002t0011 a0001c0002t0046	a0001c0001t0002g0085 a0001c0001t0004g0128 a0001c0001t0014g0017 others(4): Show a0001c0001t0002g0085 a0001c0001t0004g0128 a0001c0001t0014g0017 a0001c0001t0023g0100 a0001c0002t0003g0063 a0001c0002t0011g0037 a0001c0002t0046g0109	7	156	0.0449	27	c.232 others(46): Show c.2323-5112_2323-5111insGGAAGAGGAAGAAGAAGAAGAAGAAG A	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDAC9_chr7_18490749_19007416	18824044	G G	GGAAGAGG others(20): Show GGAAGAGGAGGAAGAAGAAGAAGAAGAA	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0026 a0001c0002t0011g0026	1	156	0.0064	27	c.232 others(46): Show c.2323-5112_2323-5111insGGAGGAAGAAGAAGAAGAAGAAGAAG A	HDAC9	ENSG00000048052.25	transcript	ENST00000686413.1	protein_coding	17/25		INFO_REALIGN_3_PRIME	chr7	TogoVar
HDGFL2_chr19_4467297_4507207	4472463	G G	GGGTGGGG others(20): Show GGGTGGGGCGGTGGGGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0032 a0001c0001t0003g0032	1	358	0.0028	27	c.72+ others(38): Show c.72+43_72+44insTGGGGCGGTGGGGGGGGGGGGGGGTGG	HDGFL2	ENSG00000167674.15	transcript	ENST00000616600.5	protein_coding	1/15		INFO_REALIGN_3_PRIME	chr19	TogoVar
HDHD3_chr9_113368422_113381986	113381279	C C	CTTCCTCC others(20): Show CTTCCTCCCTCCCTCCTCTTTCTTTCTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0073	1	464	0.0022	27	c.-48 others(38): Show c.-4842_-4841insAAGAAAGAAAGAGGAGGGAGGGAGGAA	HDHD3	ENSG00000119431.10	transcript	ENST00000374180.4	protein_coding		4294		chr9	TogoVar
HEATR4_chr14_73473484_73563947	73506804	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18985.hp1 NA19057.hp2 NA18978.hp2 NA18985.hp1 NA19057.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0101 a0001c0002t0002g0319 a0001c0002t0002g0321 a0001c0002t0001g0101 a0001c0002t0002g0319 a0001c0002t0002g0321	3	368	0.0082	27	c.188 others(44): Show c.1882-234_1882-233insAAAAAAAAAAAAAAAAAAAAAAAAAAA	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	9/17			chr14	TogoVar
HEATR4_chr14_73473484_73563947	73524310	A A	AAAAAAAA others(20): Show AAAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0015 a0015	a0015c0030 a0015c0030	a0015c0030t0012 a0015c0030t0012	a0015c0030t0012g0134 a0015c0030t0012g0134	1	368	0.0027	27	c.-72 others(44): Show c.-72-1087_-72-1086insATATATATATATATATATATTTTTTTT	HEATR4	ENSG00000187105.9	transcript	ENST00000553558.6	protein_coding	2/17			chr14	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0245 a0001c0002t0001g0245	1	314	0.0032	27	c.591 others(46): Show c.5912-2422_5912-2421insATATATATATTTTTTTTTTTTTTTTT T	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HEATR5B_chr2_36975895_37089372	36984215	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19002.hp1 NA19002.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0212 a0001c0002t0001g0212	1	314	0.0032	27	c.591 others(46): Show c.5912-2422_5912-2421insATATATATATATATTTTTTTTTTTTT T	HEATR5B	ENSG00000008869.12	transcript	ENST00000233099.6	protein_coding	35/35			chr2	TogoVar
HECTD4_chr12_112155195_112387431	112323947	C C	CTTCTTTC others(20): Show CTTCTTTCTTTCTTTCTTCTTTCTTCCT	intron_variant intron_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0247 a0001c0003t0002g0247	1	270	0.0037	27	c.178 others(44): Show c.178-4206_178-4205insAGGAAGAAAGAAGAAAGAAAGAAAGAA	HECTD4	ENSG00000173064.14	transcript	ENST00000682272.1	protein_coding	1/75			chr12	TogoVar
HECW1_chr7_43107647_43571001	43385229	T T	TCTCCCCT others(20): Show TCTCCCCTCCCCTCCCCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01943.hp1 NA19066.hp1 HG01496.hp1 HG01943.hp1 NA19066.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0005 a0001c0002 a0002c0005	a0001c0002t0003 a0002c0005t0001 a0002c0005t0002 a0001c0002t0003 a0002c0005t0001 a0002c0005t0002	a0001c0002t0003g0066 a0002c0005t0001g0153 a0002c0005t0002g0007 a0001c0002t0003g0066 a0002c0005t0001g0153 a0002c0005t0002g0007	3	182	0.0165	27	c.556 others(46): Show c.556-11573_556-11572insCCCCTCTCCCCTCCCCTCCCCTCCCC T	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43385229	T T	TCTCCCCT others(20): Show TCTCCCCTCCTCTCCCCTCTCCCCTCCC	intron_variant intron_variant	MODIFIER	NA19066.hp2 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0062	1	182	0.0055	27	c.556 others(46): Show c.556-11576_556-11575insTCTCCCCTCTCCCCTCCCCTCCCCTC C	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43385259	C C	CCCCTCTC others(20): Show CCCCTCTCCCCTCCCCTCCCCTCCCCTT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00621.hp1 others(20): Show HG00408.hp2 HG00558.hp2 HG00621.hp1 HG01517.hp1 HG02109.hp2 HG02145.hp2 HG02165.hp1 HG02809.hp2 HG02895.hp1 HG02965.hp2 HG03139.hp2 HG03540.hp2 HG06807.hp1 NA18906.hp2 NA18941.hp2 NA18945.hp1 NA18948.hp2 NA18968.hp1 NA18971.hp1 NA18983.hp1 NA19009.hp1 NA19085.hp1 NA21309.hp2	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0025 a0006c0019	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(14): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0016 a0001c0001t0022 a0001c0001t0024 a0001c0001t0030 a0001c0002t0001 a0001c0002t0003 a0001c0002t0027 a0001c0003t0001 a0001c0004t0009 a0001c0004t0032 a0001c0006t0004 a0001c0025t0031 a0006c0019t0005	a0001c0001t0001g0064 a0001c0001t0001g0116 a0001c0001t0001g0131 others(20): Show a0001c0001t0001g0064 a0001c0001t0001g0116 a0001c0001t0001g0131 a0001c0001t0002g0045 a0001c0001t0004g0010 a0001c0001t0004g0044 a0001c0001t0004g0047 a0001c0001t0004g0057 a0001c0001t0005g0166 a0001c0001t0016g0041 a0001c0001t0022g0067 a0001c0001t0024g0070 a0001c0001t0030g0098 a0001c0002t0001g0080 a0001c0002t0003g0124 a0001c0002t0027g0142 a0001c0003t0001g0075 a0001c0003t0001g0155 a0001c0004t0009g0168 a0001c0004t0032g0027 a0001c0006t0004g0009 a0001c0025t0031g0032 a0006c0019t0005g0179	23	182	0.1264	27	c.556 others(46): Show c.556-11533_556-11532insCCCTTCCCTCTCCCCTCCCCTCCCCT C	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	6/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43430779	T T	TTTATTAT others(20): Show TTTATTATTATTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01243.hp2 HG01258.hp1 others(25): Show HG00621.hp2 HG01243.hp2 HG01258.hp1 HG01943.hp2 HG02027.hp2 HG02055.hp2 HG02056.hp2 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02647.hp2 HG02723.hp2 HG02895.hp2 HG03195.hp2 HG03239.hp1 HG03654.hp1 HG03704.hp1 HG03834.hp1 HG03834.hp2 HG04228.hp1 NA18945.hp2 NA18946.hp1 NA18957.hp2 NA18983.hp2 NA19068.hp1 NA19090.hp2 NA20905.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0022 a0001c0024 a0001c0027	a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 others(15): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0018 a0001c0002t0021 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0036 a0001c0004t0001 a0001c0004t0003 a0001c0004t0013 a0001c0006t0001 a0001c0006t0003 a0001c0007t0011 a0001c0022t0020 a0001c0024t0015 a0001c0027t0011	a0001c0001t0001g0002 a0001c0001t0001g0100 a0001c0001t0001g0114 others(25): Show a0001c0001t0001g0002 a0001c0001t0001g0100 a0001c0001t0001g0114 a0001c0001t0004g0026 a0001c0001t0018g0074 a0001c0002t0021g0112 a0001c0003t0001g0071 a0001c0003t0001g0119 a0001c0003t0001g0140 a0001c0003t0001g0147 a0001c0003t0001g0157 a0001c0003t0001g0164 a0001c0003t0001g0165 a0001c0003t0002g0022 a0001c0003t0003g0082 a0001c0003t0004g0048 a0001c0003t0036g0037 a0001c0004t0001g0063 a0001c0004t0001g0092 a0001c0004t0003g0065 a0001c0004t0013g0068 a0001c0006t0001g0109 a0001c0006t0001g0125 a0001c0006t0003g0111 a0001c0007t0011g0089 a0001c0022t0020g0146 a0001c0024t0015g0035 a0001c0027t0011g0006	28	182	0.1539	27	c.802 others(44): Show c.802-7204_802-7203insATTATTATTATTATTATTATTATTATT	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	8/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW1_chr7_43107647_43571001	43497864	A A	AGAGGAAG others(20): Show AGAGGAAGAATGTCAAGGATTTTATTTT	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0063 a0001c0004t0001g0063	1	182	0.0055	27	c.343 others(46): Show c.3438-2833_3438-2807dupAGGAAGAATGTCAAGGATTTTATTTT G	HECW1	ENSG00000002746.15	transcript	ENST00000395891.7	protein_coding	19/29		INFO_REALIGN_3_PRIME	chr7	TogoVar
HECW2_chr2_196189072_196598554	196582069	A A	AAATAATA others(20): Show AAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG03130.hp1 HG06807.hp1 HG02258.hp2 HG03130.hp1 HG06807.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0012 a0002c0025 a0001c0001 a0002c0012 a0002c0025	a0001c0001t0009 a0002c0012t0004 a0002c0025t0009 a0001c0001t0009 a0002c0012t0004 a0002c0025t0009	a0001c0001t0009g0015 a0002c0012t0004g0095 a0002c0025t0009g0094 a0001c0001t0009g0015 a0002c0012t0004g0095 a0002c0025t0009g0094	3	112	0.0268	27	c.-36 others(46): Show c.-36+11438_-36+11439insATTATTATTATTATTATTATTATTAT T	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding	1/28			chr2	TogoVar
HECW2_chr2_196189072_196598554	196598474	G G	GGGAAGGG others(20): Show GGGAAGGGGAGGGAAAGGGAAGGGGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00733.hp2 HG01168.hp1 others(30): Show HG00642.hp1 HG00733.hp2 HG01168.hp1 HG01261.hp1 HG01358.hp2 HG01361.hp2 HG01496.hp2 HG01515.hp1 HG01891.hp1 HG02280.hp2 HG02559.hp1 HG02683.hp2 HG02723.hp2 HG02735.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02897.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp1 HG03239.hp1 HG03491.hp2 HG03516.hp2 HG03579.hp1 HG03710.hp1 HG03710.hp2 HG03834.hp2 HG04204.hp2 NA19240.hp2 NA20300.hp1 NA20752.hp2 NA21309.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0002 a0001c0003 others(8): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0007 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0014 a0003c0018	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(20): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0002t0001 a0001c0002t0002 a0001c0002t0005 a0001c0002t0006 a0001c0002t0015 a0001c0002t0024 a0001c0002t0031 a0001c0003t0004 a0001c0004t0002 a0001c0004t0007 a0001c0007t0004 a0001c0008t0005 a0001c0008t0010 a0001c0009t0001 a0001c0009t0006 a0001c0009t0020 a0001c0010t0018 a0001c0013t0008 a0001c0014t0026 a0003c0018t0019	a0001c0001t0001g0024 a0001c0001t0001g0089 a0001c0001t0002g0075 others(30): Show a0001c0001t0001g0024 a0001c0001t0001g0089 a0001c0001t0002g0075 a0001c0001t0006g0026 a0001c0002t0001g0039 a0001c0002t0001g0044 a0001c0002t0001g0049 a0001c0002t0001g0050 a0001c0002t0001g0051 a0001c0002t0001g0054 a0001c0002t0001g0055 a0001c0002t0001g0076 a0001c0002t0002g0053 a0001c0002t0005g0080 a0001c0002t0006g0077 a0001c0002t0015g0036 a0001c0002t0024g0085 a0001c0002t0031g0042 a0001c0003t0004g0074 a0001c0004t0002g0041 a0001c0004t0007g0057 a0001c0004t0007g0058 a0001c0004t0007g0059 a0001c0007t0004g0047 a0001c0008t0005g0086 a0001c0008t0010g0081 a0001c0009t0001g0040 a0001c0009t0006g0048 a0001c0009t0020g0087 a0001c0010t0018g0043 a0001c0013t0008g0020 a0001c0014t0026g0078 a0003c0018t0019g0088	33	112	0.2946	27	c.-50 others(38): Show c.-5003_-5002insTCTCCCCTTCCCTTTCCCTCCCCTTCC	HECW2	ENSG00000138411.13	transcript	ENST00000644978.2	protein_coding		4921		chr2	TogoVar
HELB_chr12_66297493_66343199	66327066	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01361.hp2 HG02273.hp1 NA20300.hp2 HG01361.hp2 HG02273.hp1 NA20300.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0002 a0002c0001t0002	a0002c0001t0002g0037 a0002c0001t0002g0185 a0002c0001t0002g0037 a0002c0001t0002g0185	3	390	0.0077	27	c.267 others(46): Show c.2670+1940_2670+1941insTATATATATATATATATATATATATA T	HELB	ENSG00000127311.10	transcript	ENST00000247815.9	protein_coding	11/12			chr12	TogoVar
HELLS_chr10_94540788_94607099	94542798	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0036 a0001c0002t0001g0036	1	358	0.0028	27	c.-31 others(38): Show c.-3124_-3123insTTTTTTTTTTTTTTTTTTTTTTTTTTT	HELLS	ENSG00000119969.16	transcript	ENST00000348459.10	protein_coding		2989		chr10	TogoVar
HEPHL1_chr11_94016354_94119208	94030766	T T	TCTTGCAC others(20): Show TCTTGCACAGGGAAATGTAAGTCTTTGC	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0256 a0001c0001t0003g0256	1	368	0.0027	27	c.170 others(44): Show c.170+9232_170+9258dupGCACAGGGAAATGTAAGTCTTTGCCTT	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(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02572.hp1 HG03471.hp1 HG02559.hp1 HG02572.hp1 HG03471.hp1	a0001 a0001	a0001c0004 a0001c0015 a0001c0004 a0001c0015	a0001c0004t0003 a0001c0015t0001 a0001c0004t0003 a0001c0015t0001	a0001c0004t0003g0107 a0001c0015t0001g0195 a0001c0015t0001g0196 a0001c0004t0003g0107 a0001c0015t0001g0195 a0001c0015t0001g0196	3	216	0.0139	27	c.374 others(46): Show c.3743-1207_3743-1206insAAAAAAAAAAAAAAAAAAAAAAAAAA A	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	19/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63821726	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0002 a0002	a0002c0019 a0002c0019	a0002c0019t0002 a0002c0019t0002	a0002c0019t0002g0093 a0002c0019t0002g0093	1	216	0.0046	27	c.-27 others(46): Show c.-27+12100_-27+12101insTTTTTTTTTTTTTTTTTTTTTTTTTT T	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77			chr15	TogoVar
HERC1_chr15_63603618_63838948	63826806	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0122 a0001c0001t0001g0122	1	216	0.0046	27	c.-27 others(44): Show c.-27+7020_-27+7021insATATATATATATATATATATATATATA	HERC1	ENSG00000103657.14	transcript	ENST00000443617.7	protein_coding	1/77			chr15	TogoVar
HERC2_chr15_28106040_28327179	28205285	C C	CTGCAGGG others(20): Show CTGCAGGGAGCACGTGCACCGCCCCACG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(225): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00544.hp1 HG00544.hp2 HG00597.hp1 HG00597.hp2 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00642.hp1 HG00642.hp2 HG00673.hp1 HG00673.hp2 HG00733.hp1 HG00733.hp2 HG00735.hp1 HG00735.hp2 HG00741.hp1 HG00741.hp2 HG01069.hp1 HG01069.hp2 HG01070.hp1 HG01070.hp2 HG01071.hp1 HG01071.hp2 HG01074.hp1 HG01074.hp2 HG01081.hp1 HG01081.hp2 HG01099.hp1 HG01099.hp2 HG01106.hp1 HG01106.hp2 HG01257.hp1 HG01257.hp2 HG01261.hp1 HG01261.hp2 HG01433.hp1 HG01884.hp1 HG01884.hp2 HG01891.hp1 HG01891.hp2 HG01978.hp1 HG01978.hp2 HG01981.hp1 HG01981.hp2 HG02004.hp1 HG02004.hp2 HG02015.hp1 HG02015.hp2 HG02027.hp1 HG02027.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp1 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02148.hp1 HG02148.hp2 HG02155.hp1 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02273.hp1 HG02273.hp2 HG02293.hp1 HG02293.hp2 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02559.hp2 HG02572.hp1 HG02572.hp2 HG02602.hp1 HG02602.hp2 HG02622.hp1 HG02622.hp2 HG02630.hp1 HG02630.hp2 HG02647.hp1 HG02723.hp1 HG02723.hp2 HG02735.hp2 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02886.hp1 HG02895.hp1 HG02895.hp2 HG02896.hp1 HG02896.hp2 HG02897.hp1 HG02897.hp2 HG02922.hp1 HG02965.hp1 HG02965.hp2 HG02970.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03139.hp1 HG03139.hp2 HG03195.hp1 HG03195.hp2 HG03209.hp1 HG03209.hp2 HG03225.hp2 HG03239.hp1 HG03239.hp2 HG03453.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03516.hp1 HG03516.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03669.hp2 HG03688.hp1 HG03704.hp1 HG03704.hp2 HG03710.hp1 HG03710.hp2 HG03834.hp1 HG03834.hp2 HG03927.hp1 HG03927.hp2 HG04115.hp1 HG04184.hp2 HG04199.hp1 HG04199.hp2 HG04204.hp1 HG04204.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18612.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18906.hp2 NA18939.hp1 NA18939.hp2 NA18941.hp1 NA18941.hp2 NA18945.hp1 NA18945.hp2 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18953.hp2 NA18954.hp1 NA18954.hp2 NA18955.hp1 NA18955.hp2 NA18959.hp1 NA18959.hp2 NA18962.hp1 NA18962.hp2 NA18966.hp2 NA18967.hp1 NA18967.hp2 NA18970.hp1 NA18970.hp2 NA18975.hp1 NA18975.hp2 NA18982.hp2 NA18983.hp1 NA18983.hp2 NA19000.hp1 NA19000.hp2 NA19001.hp1 NA19001.hp2 NA19003.hp1 NA19003.hp2 NA19004.hp1 NA19004.hp2 NA19009.hp1 NA19009.hp2 NA19030.hp1 NA19030.hp2 NA19043.hp1 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19074.hp1 NA19077.hp1 NA19077.hp2 NA19079.hp1 NA19079.hp2 NA19080.hp2 NA19081.hp1 NA19081.hp2 NA20129.hp1 NA20129.hp2 NA20905.hp1 NA20905.hp2 NA21309.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0003 others(29): Show a0001 a0002 a0003 a0004 a0005 a0006 a0007 a0008 a0009 a0010 a0011 a0012 a0013 a0014 a0015 a0016 a0017 a0018 a0019 a0020 a0021 a0022 a0023 a0024 a0025 a0026 a0027 a0028 a0029 a0030 a0031 a0033	a0001c0001 a0001c0003 a0001c0005 others(59): Show a0001c0001 a0001c0003 a0001c0005 a0001c0008 a0001c0013 a0001c0014 a0001c0024 a0001c0025 a0001c0026 a0001c0028 a0001c0029 a0001c0041 a0001c0043 a0001c0044 a0001c0045 a0001c0063 a0001c0066 a0001c0070 a0002c0002 a0002c0052 a0002c0056 a0002c0058 a0002c0064 a0003c0004 a0003c0039 a0003c0059 a0003c0060 a0003c0068 a0003c0071 a0004c0006 a0004c0012 a0004c0030 a0004c0061 a0004c0072 a0005c0009 a0006c0018 a0007c0015 a0008c0016 a0009c0017 a0010c0019 a0011c0020 a0012c0031 a0013c0037 a0014c0023 a0015c0057 a0016c0021 a0017c0053 a0018c0055 a0019c0069 a0020c0054 a0021c0033 a0022c0050 a0023c0035 a0024c0051 a0025c0042 a0026c0040 a0027c0067 a0028c0027 a0029c0048 a0030c0062 a0031c0034 a0033c0073	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(64): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0005t0003 a0001c0008t0001 a0001c0013t0002 a0001c0014t0001 a0001c0014t0003 a0001c0024t0001 a0001c0025t0001 a0001c0026t0001 a0001c0028t0001 a0001c0029t0001 a0001c0041t0001 a0001c0043t0001 a0001c0044t0001 a0001c0045t0001 a0001c0063t0001 a0001c0066t0001 a0001c0070t0001 a0002c0002t0001 a0002c0052t0001 a0002c0056t0001 a0002c0058t0002 a0002c0064t0001 a0003c0004t0002 a0003c0039t0002 a0003c0059t0002 a0003c0060t0002 a0003c0068t0006 a0003c0071t0002 a0004c0006t0002 a0004c0006t0004 a0004c0012t0002 a0004c0030t0002 a0004c0061t0002 a0004c0072t0002 a0005c0009t0001 a0006c0018t0001 a0006c0018t0005 a0007c0015t0001 a0008c0016t0002 a0009c0017t0001 a0010c0019t0002 a0011c0020t0001 a0012c0031t0001 a0013c0037t0001 a0014c0023t0001 a0015c0057t0001 a0016c0021t0001 a0017c0053t0001 a0018c0055t0001 a0019c0069t0001 a0020c0054t0001 a0021c0033t0001 a0022c0050t0001 a0023c0035t0002 a0024c0051t0001 a0025c0042t0001 a0026c0040t0001 a0027c0067t0001 a0028c0027t0001 a0029c0048t0001 a0030c0062t0002 a0031c0034t0001 a0033c0073t0001	a0001c0001t0001g0036 a0001c0001t0001g0098 a0001c0001t0001g0099 others(225): Show a0001c0001t0001g0036 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0107 a0001c0001t0001g0110 a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0129 a0001c0001t0001g0135 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 a0001c0001t0001g0157 a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0003g0111 a0001c0001t0003g0113 a0001c0001t0003g0130 a0001c0001t0003g0139 a0001c0001t0003g0140 a0001c0001t0003g0161 a0001c0003t0001g0017 a0001c0003t0001g0185 a0001c0003t0001g0187 a0001c0003t0001g0188 a0001c0003t0001g0189 a0001c0003t0001g0190 a0001c0003t0001g0205 a0001c0003t0001g0207 a0001c0003t0001g0209 a0001c0003t0001g0210 a0001c0003t0001g0211 a0001c0003t0001g0212 a0001c0003t0001g0213 a0001c0003t0001g0214 a0001c0003t0001g0215 a0001c0003t0001g0218 a0001c0003t0001g0219 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0001g0227 a0001c0003t0001g0228 a0001c0003t0001g0229 a0001c0003t0001g0232 a0001c0003t0001g0233 a0001c0003t0001g0234 a0001c0003t0001g0236 a0001c0003t0001g0237 a0001c0003t0001g0239 a0001c0003t0001g0241 a0001c0003t0001g0246 a0001c0003t0001g0247 a0001c0003t0002g0217 a0001c0005t0003g0116 a0001c0005t0003g0121 a0001c0005t0003g0122 a0001c0005t0003g0123 a0001c0005t0003g0125 a0001c0005t0003g0131 a0001c0005t0003g0145 a0001c0005t0003g0158 a0001c0005t0003g0166 a0001c0008t0001g0108 a0001c0008t0001g0132 a0001c0008t0001g0133 a0001c0008t0001g0134 a0001c0008t0001g0148 a0001c0008t0001g0149 a0001c0013t0002g0243 a0001c0013t0002g0244 a0001c0013t0002g0245 a0001c0014t0001g0097 a0001c0014t0003g0105 a0001c0024t0001g0127 a0001c0025t0001g0126 a0001c0026t0001g0162 a0001c0028t0001g0151 a0001c0029t0001g0150 a0001c0041t0001g0031 a0001c0043t0001g0208 a0001c0044t0001g0235 a0001c0045t0001g0186 a0001c0063t0001g0008 a0001c0066t0001g0230 a0001c0070t0001g0216 a0002c0002t0001g0032 a0002c0002t0001g0038 a0002c0002t0001g0039 a0002c0002t0001g0040 a0002c0002t0001g0041 a0002c0002t0001g0042 a0002c0002t0001g0043 a0002c0002t0001g0044 a0002c0002t0001g0046 a0002c0002t0001g0047 a0002c0002t0001g0048 a0002c0002t0001g0049 a0002c0002t0001g0050 a0002c0002t0001g0051 a0002c0002t0001g0052 a0002c0002t0001g0053 a0002c0002t0001g0055 a0002c0002t0001g0057 a0002c0002t0001g0058 a0002c0002t0001g0059 a0002c0002t0001g0060 a0002c0002t0001g0062 a0002c0002t0001g0063 a0002c0002t0001g0066 a0002c0002t0001g0067 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0082 a0002c0002t0001g0083 a0002c0002t0001g0085 a0002c0002t0001g0086 a0002c0052t0001g0084 a0002c0056t0001g0064 a0002c0058t0002g0089 a0002c0064t0001g0087 a0003c0004t0002g0003 a0003c0004t0002g0009 a0003c0004t0002g0010 a0003c0004t0002g0011 a0003c0004t0002g0012 a0003c0004t0002g0013 a0003c0004t0002g0015 a0003c0004t0002g0020 a0003c0004t0002g0021 a0003c0004t0002g0022 a0003c0004t0002g0023 a0003c0004t0002g0025 a0003c0004t0002g0026 a0003c0004t0002g0027 a0003c0004t0002g0029 a0003c0004t0002g0030 a0003c0004t0002g0033 a0003c0004t0002g0034 a0003c0004t0002g0035 a0003c0039t0002g0094 a0003c0059t0002g0016 a0003c0060t0002g0088 a0003c0068t0006g0249 a0003c0071t0002g0005 a0004c0006t0002g0191 a0004c0006t0002g0192 a0004c0006t0002g0193 a0004c0006t0002g0194 a0004c0006t0002g0195 a0004c0006t0002g0197 a0004c0006t0002g0199 a0004c0006t0002g0200 a0004c0006t0004g0196 a0004c0012t0002g0004 a0004c0012t0002g0006 a0004c0012t0002g0007 a0004c0030t0002g0109 a0004c0061t0002g0018 a0004c0072t0002g0242 a0005c0009t0001g0090 a0005c0009t0001g0091 a0005c0009t0001g0092 a0005c0009t0001g0095 a0006c0018t0001g0093 a0006c0018t0005g0248 a0007c0015t0001g0136 a0007c0015t0001g0137 a0008c0016t0002g0024 a0008c0016t0002g0028 a0009c0017t0001g0001 a0009c0017t0001g0002 a0010c0019t0002g0198 a0011c0020t0001g0056 a0012c0031t0001g0114 a0013c0037t0001g0037 a0014c0023t0001g0152 a0015c0057t0001g0070 a0016c0021t0001g0065 a0017c0053t0001g0045 a0018c0055t0001g0077 a0019c0069t0001g0061 a0020c0054t0001g0054 a0021c0033t0001g0167 a0022c0050t0001g0226 a0023c0035t0002g0019 a0024c0051t0001g0220 a0025c0042t0001g0231 a0026c0040t0001g0240 a0027c0067t0001g0106 a0028c0027t0001g0138 a0029c0048t0001g0238 a0030c0062t0002g0014 a0031c0034t0001g0206 a0033c0073t0001g0168	228	250	0.9120	27	c.721 others(44): Show c.7212+954_7212+955insCGTGGGGCGGTGCACGTGCTCCCTGCA	HERC2	ENSG00000128731.18	transcript	ENST00000261609.13	protein_coding	45/92			chr15	TogoVar
HERC2_chr15_28106040_28327179	28205285	C C	CTGCAGGG others(20): Show CTGCAGGGAGCTCGTGCACCGCCCCACG	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG03041.hp2 HG03098.hp1 others(2): Show HG02809.hp1 HG03041.hp2 HG03098.hp1 HG03225.hp1 NA18522.hp1	a0001 a0001	a0001c0011 a0001c0022 a0001c0032 a0001c0011 a0001c0022 a0001c0032	a0001c0011t0001 a0001c0022t0001 a0001c0032t0007 a0001c0011t0001 a0001c0022t0001 a0001c0032t0007	a0001c0011t0001g0202 a0001c0011t0001g0203 a0001c0011t0001g0204 others(2): Show a0001c0011t0001g0202 a0001c0011t0001g0203 a0001c0011t0001g0204 a0001c0022t0001g0201 a0001c0032t0007g0250	5	250	0.0200	27	c.721 others(44): Show c.7212+954_7212+955insCGTGGGGCGGTGCACGAGCTCCCTGCA	HERC2	ENSG00000128731.18	transcript	ENST00000261609.13	protein_coding	45/92			chr15	TogoVar
HERC4_chr10_67916905_68080283	68059618	A A	AATATTAT others(20): Show AATATTATATATCATAATATTATATATT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02818.hp2 HG02976.hp2 others(1): Show HG02451.hp2 HG02818.hp2 HG02976.hp2 HG03704.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0002 a0001c0001t0001 a0001c0002t0002	a0001c0001t0001g0302 a0001c0002t0002g0009 a0001c0002t0002g0010 others(1): Show a0001c0001t0001g0302 a0001c0002t0002g0009 a0001c0002t0002g0010 a0001c0002t0002g0011	4	360	0.0111	27	c.226 others(46): Show c.226+13238_226+13264dupAATATATAATATTATGATATATAATA T	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059781	A A	AATATTAT others(20): Show AATATTATATATCATAATATTATATATT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02976.hp2 HG02630.hp2 HG02976.hp2	a0001 a0001	a0001c0002 a0001c0008 a0001c0002 a0001c0008	a0001c0002t0002 a0001c0008t0001 a0001c0002t0002 a0001c0008t0001	a0001c0002t0002g0011 a0001c0008t0001g0311 a0001c0002t0002g0011 a0001c0008t0001g0311	2	360	0.0056	27	c.226 others(46): Show c.226+13075_226+13101dupAATATATAATATTATGATATATAATA T	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059811	A A	AATATTAT others(20): Show AATATTATATATCATAATATTATATATT	intron_variant intron_variant	MODIFIER	HG02148.hp1 HG02148.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0264 a0001c0002t0001g0264	1	360	0.0028	27	c.226 others(46): Show c.226+13045_226+13071dupAATATATAATATTATGATATATAATA T	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERC4_chr10_67916905_68080283	68059873	A A	AATATTAT others(20): Show AATATTATATATCATAATATTATATATT	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0008 a0001c0002t0002g0008	1	360	0.0028	27	c.226 others(46): Show c.226+13009_226+13010insAATATATAATATTATGATATATAATA T	HERC4	ENSG00000148634.16	transcript	ENST00000373700.9	protein_coding	3/24			chr10	TogoVar
HERPUD2_chr7_35627659_35700135	35631832	A A	AAAATTAT others(20): Show AAAATTATATATAAATATATAAATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00140.hp2 HG00609.hp1 others(87): Show HG00099.hp2 HG00140.hp2 HG00609.hp1 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG01070.hp1 HG01071.hp1 HG01081.hp2 HG01099.hp2 HG01106.hp1 HG01123.hp2 HG01167.hp1 HG01169.hp1 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp1 HG01258.hp1 HG01261.hp2 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp1 HG01891.hp1 HG01928.hp1 HG01934.hp2 HG01975.hp2 HG01978.hp1 HG01981.hp1 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02129.hp1 HG02280.hp1 HG02300.hp1 HG02300.hp2 HG02559.hp1 HG02602.hp1 HG02735.hp1 HG02738.hp1 HG02818.hp2 HG03017.hp1 HG03688.hp2 HG03831.hp2 HG03942.hp2 HG04115.hp1 HG04184.hp1 HG04228.hp1 NA18612.hp1 NA18747.hp1 NA18942.hp2 NA18947.hp2 NA18948.hp1 NA18957.hp2 NA18959.hp1 NA18965.hp2 NA18969.hp1 NA18970.hp2 NA18977.hp1 NA18985.hp2 NA18986.hp1 NA18987.hp1 NA18990.hp1 NA18992.hp2 NA18993.hp2 NA18995.hp2 NA18998.hp2 NA19000.hp1 NA19001.hp1 NA19004.hp2 NA19010.hp1 NA19012.hp1 NA19060.hp1 NA19062.hp1 NA19063.hp1 NA19065.hp1 NA19072.hp2 NA19074.hp2 NA19076.hp2 NA19078.hp1 NA19084.hp1 NA19085.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp2	a0001 a0003 a0004 a0001 a0003 a0004	a0001c0001 a0001c0006 a0003c0003 others(1): Show a0001c0001 a0001c0006 a0003c0003 a0004c0004	a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0015 a0001c0001t0022 a0001c0006t0001 a0003c0003t0001 a0004c0004t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(87): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0056 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0075 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0217 a0001c0001t0006g0026 a0001c0001t0006g0058 a0001c0001t0006g0069 a0001c0001t0006g0096 a0001c0001t0015g0052 a0001c0001t0022g0392 a0001c0006t0001g0036 a0003c0003t0001g0039 a0003c0003t0001g0055 a0003c0003t0001g0066 a0003c0003t0001g0082 a0004c0004t0001g0021 a0004c0004t0001g0027	90	392	0.2296	27	c.18 others(38): Show c.1857_*1858insATATATTTATATATTTATATATAATTT	HERPUD2	ENSG00000122557.11	transcript	ENST00000311350.8	protein_coding		826		chr7	TogoVar
HFM1_chr1_91255766_91409837	91264361	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0245 a0006c0010t0001g0245	1	362	0.0028	27	c.397 others(46): Show c.3974+1629_3974+1655dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	HFM1	ENSG00000162669.16	transcript	ENST00000370425.8	protein_coding	36/38			chr1	TogoVar
HHAT_chr1_210323902_210681290	210334178	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp1 HG03704.hp1 HG02602.hp1 HG03704.hp1	a0001 a0003 a0001 a0003	a0001c0002 a0003c0004 a0001c0002 a0003c0004	a0001c0002t0004 a0003c0004t0004 a0001c0002t0004 a0003c0004t0004	a0001c0002t0004g0140 a0003c0004t0004g0139 a0001c0002t0004g0140 a0003c0004t0004g0139	2	268	0.0075	27	c.-44 others(44): Show c.-44+5094_-44+5095insTTTTTTTTTTTTTTTTTTTTTTTTTTT	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(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20905.hp1 NA20905.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0118 a0003c0004t0001g0118	1	268	0.0037	27	c.-44 others(44): Show c.-44+7206_-44+7207insTTTTTTTTTTTTTTTTTTTTTTTTTTT	HHAT	ENSG00000054392.13	transcript	ENST00000261458.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
HIBADH_chr7_27520442_27667883	27527917	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03492.hp2 HG03491.hp1 HG03492.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0132 a0001c0001t0003g0136 a0001c0001t0003g0132 a0001c0001t0003g0136	2	326	0.0061	27	c.853 others(44): Show c.853-1546_853-1545insAAAAAAAAAAAAAAAAAAAAAAAAAAA	HIBADH	ENSG00000106049.9	transcript	ENST00000265395.7	protein_coding	7/7			chr7	TogoVar
HIBCH_chr2_190198920_190324826	190317535	T T	TGCATAAG others(20): Show TGCATAAGCAGAAGGGCACCTCTGTGAG	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0350 a0001c0001t0004g0350	1	368	0.0027	27	c.35+ others(42): Show c.35+2154_35+2180dupCTCACAGAGGTGCCCTTCTGCTTATGC	HIBCH	ENSG00000198130.16	transcript	ENST00000359678.10	protein_coding	1/13			chr2	TogoVar
HIGD2B_chr15_72670798_72691182	72684271	T T	TTACTTCG others(20): Show TTACTTCGGGTATGCCTTATGTAAATAG	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0102 a0001c0001t0001g0102	1	436	0.0023	27	c.-19 others(46): Show c.-193+1520_-193+1546dupCTATTTACATAAGGCATACCCGAAGT A	HIGD2B	ENSG00000175202.6	transcript	ENST00000311755.6	protein_coding	1/2			chr15	TogoVar
HIKESHI_chr11_86297240_86350943	86307283	T T	TATTATGT others(20): Show TATTATGTGTAATATACATTATATATCA	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01884.hp2 HG02055.hp1 others(16): Show HG01074.hp1 HG01884.hp2 HG02055.hp1 HG02055.hp2 HG02273.hp2 HG02572.hp1 HG02809.hp1 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG02976.hp1 HG03139.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03516.hp1 HG03579.hp2 HG06807.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0354 a0001c0001t0001g0355 others(15): Show a0001c0001t0001g0021 a0001c0001t0001g0354 a0001c0001t0001g0355 a0001c0001t0001g0356 a0001c0001t0001g0357 a0001c0001t0001g0358 a0001c0001t0001g0359 a0001c0001t0001g0360 a0001c0001t0001g0361 a0001c0001t0001g0362 a0001c0001t0001g0363 a0001c0001t0001g0364 a0001c0001t0001g0365 a0001c0001t0001g0366 a0001c0001t0001g0369 a0001c0001t0001g0370 a0001c0001t0001g0371 a0001c0001t0001g0372	19	398	0.0477	27	c.268 others(42): Show c.268+803_268+804insTATGTGTAATATACATTATATATCAAT	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIKESHI_chr11_86297240_86350943	86307957	A A	AAAATATA others(20): Show AAAATATATATTATGTGTAATATATATT	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00280.hp1 HG00741.hp2 others(27): Show HG00140.hp2 HG00280.hp1 HG00741.hp2 HG01099.hp1 HG01192.hp2 HG01358.hp2 HG01361.hp1 HG01952.hp1 HG02258.hp2 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02647.hp2 HG02895.hp2 HG02897.hp1 HG03139.hp1 HG03486.hp1 HG04184.hp1 NA18952.hp1 NA18960.hp2 NA18967.hp2 NA18969.hp2 NA18970.hp2 NA18978.hp1 NA19000.hp1 NA19043.hp1 NA19054.hp2 NA19086.hp2 NA19087.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0200 a0001c0001t0001g0228 a0001c0001t0003g0057 others(27): Show a0001c0001t0001g0200 a0001c0001t0001g0228 a0001c0001t0003g0057 a0001c0001t0003g0058 a0001c0001t0003g0059 a0001c0001t0003g0199 a0001c0001t0003g0204 a0001c0001t0003g0205 a0001c0001t0003g0206 a0001c0001t0003g0207 a0001c0001t0003g0208 a0001c0001t0003g0209 a0001c0001t0003g0210 a0001c0001t0003g0211 a0001c0001t0003g0212 a0001c0001t0003g0213 a0001c0001t0003g0214 a0001c0001t0003g0215 a0001c0001t0003g0216 a0001c0001t0003g0217 a0001c0001t0003g0218 a0001c0001t0003g0219 a0001c0001t0003g0220 a0001c0001t0003g0221 a0001c0001t0003g0222 a0001c0001t0003g0223 a0001c0001t0003g0224 a0001c0001t0003g0225 a0001c0001t0003g0226 a0001c0001t0003g0227	30	398	0.0754	27	c.268 others(44): Show c.268+1475_268+1476insAAATATATATTATGTGTAATATATATT	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4			chr11	TogoVar
HIKESHI_chr11_86297240_86350943	86318303	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00642.hp1 HG02015.hp1 others(8): Show HG00423.hp2 HG00642.hp1 HG02015.hp1 HG03017.hp1 HG03516.hp2 NA18969.hp1 NA18971.hp1 NA18973.hp1 NA19009.hp1 NA19066.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0053 others(8): Show a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0053 a0001c0001t0001g0063 a0001c0001t0001g0075 a0001c0001t0001g0079 a0001c0001t0001g0107 a0001c0001t0001g0124 a0001c0001t0001g0241 a0001c0001t0001g0254 a0001c0001t0001g0263	11	398	0.0276	27	c.268 others(46): Show c.268+11841_268+11842insAAAAAAAAAAAAAAAAAAAAAAAAAA A	HIKESHI	ENSG00000149196.17	transcript	ENST00000278483.8	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
HINFP_chr11_119116580_119141059	119129490	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG03688.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0173 a0001c0001t0003g0173	1	404	0.0025	27	c.182 others(44): Show c.182-1220_182-1219insTTTTTTTTTTTTTTTTTTTTTTTTTTT	HINFP	ENSG00000172273.13	transcript	ENST00000350777.7	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr11	TogoVar
HIPK3_chr11_33252381_33362023	33310281	T T	TATCTATC others(20): Show TATCTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	NA19006.hp1 NA19006.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	342	0.0029	27	c.109 others(48): Show c.1098-18229_1098-18228insATCTATCTATCTATCTATCTATCT ATC	HIPK3	ENSG00000110422.12	transcript	ENST00000303296.9	protein_coding	2/16			chr11	TogoVar
HIRA_chr22_19325698_19436733	19390601	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	364	0.0028	27	c.936 others(44): Show c.936+1499_936+1500insTTTTTTTTTTTTTTTTTTTTTTTTTTT	HIRA	ENSG00000100084.14	transcript	ENST00000263208.5	protein_coding	9/24			chr22	TogoVar
HIVEP1_chr6_12007312_12169999	12009120	T T	TGGCGGCG others(20): Show TGGCGGCGGCGGCGGCGGCGGCGGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02132.hp1 HG02132.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0030	1	344	0.0029	27	c.-35 others(38): Show c.-3550_-3549insGGCGGCGGCGGCGGCGGCGGCGGCGGC	HIVEP1	ENSG00000095951.17	transcript	ENST00000379388.7	protein_coding		3191		chr6	TogoVar
HIVEP2_chr6_142746469_142950176	142793669	T T	TTTTTTTT others(20): Show TTTTTTTTTCTTTCTTTCTTTCTCTCTC	intron_variant intron_variant	MODIFIER	HG02165.hp2 HG02165.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0259 a0001c0001t0001g0259	1	288	0.0035	27	c.-52 others(48): Show c.-527-10055_-527-10054insGAGAGAGAAAGAAAGAAAGAAAAA AAA	HIVEP2	ENSG00000010818.11	transcript	ENST00000367603.8	protein_coding	2/9			chr6	TogoVar

Search by Variant

Search

Search Results (Total: 7463 hits)