Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

Haplotype-annotation class (e.g., ahapid, ahapid+chapid).

Snpeff annotation impact

Exact impact level (e.g., HIGH, MODERATE, LOW).

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

One or more haplotype IDs (comma-separated; e.g., a0001, a01, a0001c0001, a01c02, a1c2, a0001c0001t0005, a0001c0001t0005g0018).

Samplehapid

Sample haplotype IDs to include (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

No_hapid

Haplotype IDs to exclude (comma-separated; e.g., a0001, a0002, a0001c0001, a0001c0001t0005, a1, a01).

No_samplehapid

Sample haplotype IDs to exclude (comma-separated; e.g., HG02257.hp1, HG02615.hp2, HG00673.hp2).

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

⚠️ Results limited to 10,000 hits. Refine your search for more specific results.

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
HOXB13_chr17_48719763_48733750	48731314	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00738.hp2 others(17): Show HG00140.hp2 HG00323.hp1 HG00738.hp2 HG01081.hp2 HG01109.hp2 HG01168.hp2 HG01192.hp1 HG01255.hp1 HG01258.hp2 HG01261.hp2 HG01433.hp2 HG01934.hp1 HG01975.hp1 HG01978.hp2 HG02004.hp1 HG02148.hp2 HG02257.hp2 HG02602.hp1 HG03130.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0012 a0001c0001t0013	a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0002g0002 others(3): Show a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0002g0002 a0001c0001t0004g0010 a0001c0001t0012g0029 a0001c0001t0013g0030	20	426	0.0470	13	c.-27 others(24): Show c.-2722_-2721insTTTTTTTTTTTTT	HOXB13	ENSG00000159184.8	transcript	ENST00000290295.8	protein_coding		2565		chr17	TogoVar
HOXB2_chr17_48537655_48550109	48538808	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02965.hp2 HG02965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	426	0.0024	13	c.42 others(24): Show c.4259_*4260insTTTTTTTTTTTTT	HOXB2	ENSG00000173917.11	transcript	ENST00000330070.6	protein_coding		3846		chr17	TogoVar
HOXB3_chr17_48543870_48595241	48561183	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03927.hp2 NA19090.hp1 NA19091.hp1 HG03927.hp2 NA19090.hp1 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0072 a0001c0001t0002g0263 a0001c0001t0003g0073 a0001c0001t0001g0072 a0001c0001t0002g0263 a0001c0001t0003g0073	3	374	0.0080	13	c.-24 others(32): Show c.-246-5566_-246-5565insGTGTGTGTGTGTG	HOXB3	ENSG00000120093.12	transcript	ENST00000498678.6	protein_coding	2/4			chr17	TogoVar
HOXC13_chr12_53933831_53951544	53942154	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0072 a0001c0001t0002g0072	1	402	0.0025	13	c.736 others(30): Show c.736+2537_736+2549dupTTTTTTTTTTTTT	HOXC13	ENSG00000123364.5	transcript	ENST00000243056.5	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr12	TogoVar
HOXC4_chr12_54048835_54061030	54058950	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	400	0.0025	13	c.37 others(24): Show c.3745_*3746insTGTGTGTGTGTGT	HOXC4	ENSG00000198353.8	transcript	ENST00000430889.3	protein_coding		2921		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54013990	T T	TCTTTCTC others(6): Show TCTTTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	306	0.0033	13	c.26 others(24): Show c.2609_*2610insCTTTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1222		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19090.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0001 a0001c0001t0008g0001	1	306	0.0033	13	c.26 others(24): Show c.2619_*2620insCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014000	T T	TTCTCTTC others(6): Show TTCTCTTCTTTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG02055.hp2 HG02683.hp2 others(1): Show HG00597.hp2 HG02055.hp2 HG02683.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0018 a0001c0001t0045 a0001c0001t0002 a0001c0001t0018 a0001c0001t0045	a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0018g0001 others(1): Show a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0018g0001 a0001c0001t0045g0001	4	306	0.0131	13	c.26 others(24): Show c.2619_*2620insTCTCTTCTTTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1232		chr12	TogoVar
HOXC8_chr12_54003985_54017769	54014004	T T	TCTCTCTC others(6): Show TCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	306	0.0033	13	c.26 others(24): Show c.2623_*2624insCTCTCTCTCTCTC	HOXC8	ENSG00000037965.6	transcript	ENST00000040584.6	protein_coding		1236		chr12	TogoVar
HOXC9_chr12_53995161_54008337	53997077	A A	AGTGGGCA others(6): Show AGTGGGCAGGCAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00140.hp2 others(148): Show HG00099.hp1 HG00140.hp1 HG00140.hp2 HG00323.hp2 HG00408.hp1 HG00423.hp1 HG00423.hp2 HG00558.hp1 HG00558.hp2 HG00609.hp2 HG00621.hp1 HG00642.hp1 HG00673.hp1 HG00673.hp2 HG00735.hp1 HG00738.hp1 HG00738.hp2 HG00741.hp1 HG01069.hp1 HG01071.hp1 HG01099.hp1 HG01106.hp1 HG01109.hp1 HG01123.hp1 HG01167.hp2 HG01192.hp1 HG01243.hp1 HG01243.hp2 HG01255.hp2 HG01256.hp1 HG01258.hp2 HG01346.hp1 HG01358.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp2 HG01884.hp1 HG01934.hp2 HG01943.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02040.hp2 HG02055.hp1 HG02056.hp1 HG02056.hp2 HG02074.hp1 HG02080.hp1 HG02109.hp2 HG02135.hp2 HG02145.hp2 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02486.hp1 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp2 HG02683.hp1 HG02698.hp1 HG02698.hp2 HG02723.hp1 HG02886.hp1 HG02886.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp2 HG03041.hp2 HG03139.hp1 HG03139.hp2 HG03209.hp1 HG03225.hp1 HG03453.hp2 HG03471.hp1 HG03471.hp2 HG03486.hp1 HG03492.hp2 HG03516.hp1 HG03669.hp2 HG03710.hp1 HG03834.hp1 HG03927.hp1 HG04199.hp1 NA18522.hp1 NA18612.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp1 NA18940.hp1 NA18943.hp1 NA18944.hp2 NA18947.hp1 NA18951.hp1 NA18951.hp2 NA18953.hp1 NA18955.hp1 NA18957.hp2 NA18959.hp1 NA18962.hp2 NA18963.hp1 NA18963.hp2 NA18964.hp2 NA18965.hp1 NA18966.hp1 NA18967.hp1 NA18967.hp2 NA18969.hp1 NA18970.hp1 NA18973.hp2 NA18975.hp2 NA18979.hp1 NA18979.hp2 NA18981.hp1 NA18983.hp1 NA18984.hp1 NA18987.hp2 NA18993.hp1 NA19000.hp2 NA19004.hp1 NA19009.hp2 NA19011.hp1 NA19011.hp2 NA19012.hp1 NA19043.hp1 NA19055.hp1 NA19056.hp1 NA19057.hp1 NA19057.hp2 NA19063.hp1 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19074.hp1 NA19077.hp2 NA19079.hp2 NA19080.hp1 NA19085.hp2 NA19089.hp2 NA19090.hp2 NA19091.hp2 NA20300.hp1 NA20752.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0001c0006 others(1): Show a0001c0001 a0001c0003 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0006 a0001c0001t0009 a0001c0003t0001 a0001c0003t0002 a0001c0006t0001 a0002c0004t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(16): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0017 a0001c0001t0006g0005 a0001c0001t0009g0001 a0001c0003t0001g0001 a0001c0003t0001g0007 a0001c0003t0002g0001 a0001c0006t0001g0001 a0002c0004t0001g0001 a0002c0004t0001g0008	151	342	0.4415	13	c.-31 others(24): Show c.-3112_-3111insGTGGGCAGGCAGG	HOXC9	ENSG00000180806.5	transcript	ENST00000303450.5	protein_coding		3083		chr12	TogoVar
HOXD10_chr2_176111778_176124937	176111826	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00741.hp2 NA18906.hp2 HG00741.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0016 a0001c0001t0011 a0001c0001t0016	a0001c0001t0011g0002 a0001c0001t0016g0023 a0001c0001t0011g0002 a0001c0001t0016g0023	2	428	0.0047	13	c.-50 others(24): Show c.-5008_-5007insAAAAAAAAAAAAA	HOXD10	ENSG00000128710.6	transcript	ENST00000249501.5	protein_coding		4951		chr2	TogoVar
HOXD11_chr2_176102280_176114754	176111826	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00741.hp1 NA18906.hp1 HG00741.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0004 a0001c0001t0002g0030 a0001c0001t0001g0004 a0001c0001t0002g0030	2	430	0.0047	13	c.26 others(24): Show c.2684_*2685insAAAAAAAAAAAAA	HOXD11	ENSG00000128713.14	transcript	ENST00000249504.7	protein_coding		2073		chr2	TogoVar
HOXD8_chr2_176124705_176137695	176127763	A A	ACACACAC others(6): Show ACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp1 HG02809.hp2 HG02895.hp1 HG02109.hp1 HG02809.hp2 HG02895.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0003 a0001c0001t0001 a0001c0002t0003	a0001c0001t0001g0002 a0001c0002t0003g0001 a0001c0001t0001g0002 a0001c0002t0003g0001	3	400	0.0075	13	c.-26 others(24): Show c.-2604_-2603insCACACACACACAC	HOXD8	ENSG00000175879.9	transcript	ENST00000313173.6	protein_coding		1941		chr2	TogoVar
HOXD8_chr2_176124705_176137695	176127792	A A	ACACACAC others(6): Show ACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19089.hp2 NA19089.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0001 a0001c0002t0003g0001	1	400	0.0025	13	c.-25 others(24): Show c.-2575_-2574insCACACACACACAC	HOXD8	ENSG00000175879.9	transcript	ENST00000313173.6	protein_coding		1912		chr2	TogoVar
HOXD9_chr2_176117719_176129937	176127760	T T	TACACACA others(6): Show TACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02683.hp1 HG02683.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0001 a0002c0002t0001g0001	1	404	0.0025	13	c.35 others(24): Show c.3585_*3586insACACACACACACA	HOXD9	ENSG00000128709.13	transcript	ENST00000249499.8	protein_coding		2824		chr2	TogoVar
HOXD9_chr2_176117719_176129937	176127763	A A	ACACACAC others(6): Show ACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0002 a0001c0003t0001g0002	1	404	0.0025	13	c.35 others(24): Show c.3588_*3589insCACACACACACAC	HOXD9	ENSG00000128709.13	transcript	ENST00000249499.8	protein_coding		2827		chr2	TogoVar
HP1BP3_chr1_20735266_20792307	20746227	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0151 a0001c0001t0004g0151	1	378	0.0027	13	c.125 others(30): Show c.1254-572_1254-571insCACACACACACAC	HP1BP3	ENSG00000127483.19	transcript	ENST00000438032.6	protein_coding	11/12			chr1	TogoVar
HPCAL1_chr2_10297904_10432604	10399233	C C	CGCCGCTG others(6): Show CGCCGCTGCCAGCT	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0124	1	314	0.0032	13	c.-25 others(30): Show c.-25+2313_-25+2314insGCCGCTGCCAGCT	HPCAL1	ENSG00000115756.13	transcript	ENST00000307845.8	protein_coding	2/4			chr2	TogoVar
HPD_chr12_121834527_121863859	121835030	T T	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0247 a0001c0001t0001g0247	1	406	0.0025	13	c.46 others(24): Show c.4697_*4698insGAAAGAAAGAAAG	HPD	ENSG00000158104.11	transcript	ENST00000289004.8	protein_coding		4496		chr12	TogoVar
HPGDS_chr4_94293535_94347836	94340309	C C	CTTTCTTT others(6): Show CTTTCTTTCTCTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02135.hp1 HG00438.hp2 HG02135.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0157 a0001c0001t0002g0265 a0001c0001t0002g0157 a0001c0001t0002g0265	2	312	0.0064	13	c.-10 others(30): Show c.-10+2485_-10+2486insAAAGAGAAAGAAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPGDS_chr4_94293535_94347836	94340309	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0066 a0001c0001t0001g0066	1	312	0.0032	13	c.-10 others(30): Show c.-10+2485_-10+2486insAGAAAGAAAGAAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPGDS_chr4_94293535_94347836	94340310	T T	TTTCTTTC others(6): Show TTTCTTTCTTTCTC	intron_variant intron_variant	MODIFIER	NA19089.hp1 NA19089.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	312	0.0032	13	c.-10 others(30): Show c.-10+2484_-10+2485insGAGAAAGAAAGAA	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPGDS_chr4_94293535_94347836	94340312	T T	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	312	0.0032	13	c.-10 others(30): Show c.-10+2482_-10+2483insGAAAGAAAGAAAG	HPGDS	ENSG00000163106.11	transcript	ENST00000295256.10	protein_coding	1/5			chr4	TogoVar
HPGD_chr4_174485175_174527488	174497568	C C	CTTTTCTT others(6): Show CTTTTCTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02809.hp1 HG02896.hp2 HG02257.hp2 HG02809.hp1 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0002t0004 a0001c0001t0004 a0001c0002t0004	a0001c0001t0004g0027 a0001c0002t0004g0125 a0001c0001t0004g0027 a0001c0002t0004g0125	3	414	0.0073	13	c.422 others(30): Show c.422-1945_422-1944insAAAAAAAAGAAAA	HPGD	ENSG00000164120.14	transcript	ENST00000296522.11	protein_coding	4/6			chr4	TogoVar
HPGD_chr4_174485175_174527488	174497568	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00642.hp2 HG01074.hp2 others(18): Show HG00140.hp1 HG00642.hp2 HG01074.hp2 HG01192.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp1 HG01934.hp1 HG01993.hp1 HG02109.hp1 HG02280.hp1 HG02451.hp1 HG02622.hp1 HG03654.hp2 HG03831.hp2 NA18941.hp2 NA18989.hp2 NA19000.hp1 NA19043.hp2 NA19085.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0005 a0001c0001 a0001c0002 a0001c0005	a0001c0001t0003 a0001c0001t0004 a0001c0001t0018 others(3): Show a0001c0001t0003 a0001c0001t0004 a0001c0001t0018 a0001c0002t0003 a0001c0002t0004 a0001c0005t0001	a0001c0001t0003g0029 a0001c0001t0003g0181 a0001c0001t0003g0184 others(16): Show a0001c0001t0003g0029 a0001c0001t0003g0181 a0001c0001t0003g0184 a0001c0001t0003g0197 a0001c0001t0003g0199 a0001c0001t0003g0216 a0001c0001t0003g0231 a0001c0001t0003g0263 a0001c0001t0003g0271 a0001c0001t0003g0274 a0001c0001t0004g0047 a0001c0001t0018g0196 a0001c0002t0003g0062 a0001c0002t0003g0101 a0001c0002t0003g0103 a0001c0002t0003g0109 a0001c0002t0003g0111 a0001c0002t0004g0129 a0001c0005t0001g0133	21	414	0.0507	13	c.422 others(30): Show c.422-1957_422-1945dupAAAAAAAAAAAAA	HPGD	ENSG00000164120.14	transcript	ENST00000296522.11	protein_coding	4/6			chr4	TogoVar
HPN_chr19_35036721_35071573	35048028	A A	AAAAAGAA others(6): Show AAAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00438.hp1 HG00738.hp1 others(13): Show HG00408.hp2 HG00438.hp1 HG00738.hp1 HG01167.hp2 HG01169.hp2 HG01975.hp1 HG03239.hp1 HG03710.hp2 NA18961.hp1 NA18967.hp2 NA18969.hp2 NA18979.hp1 NA18984.hp2 NA19057.hp1 NA19068.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0078 others(11): Show a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0157 a0001c0001t0001g0249 a0001c0001t0002g0002 a0001c0001t0002g0006 a0001c0001t0002g0088 a0001c0001t0002g0155 a0001c0001t0002g0156 a0001c0001t0002g0236 a0001c0001t0002g0277 a0001c0001t0002g0278	16	384	0.0417	13	c.17- others(28): Show c.17-1259_17-1258insAGAAAGAAAGAAA	HPN	ENSG00000105707.15	transcript	ENST00000672452.2	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr19	TogoVar
HPN_chr19_35036721_35071573	35048028	A A	AGAAAGAA others(6): Show AGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00735.hp2 HG01123.hp2 others(12): Show HG00323.hp2 HG00735.hp2 HG01123.hp2 HG01256.hp2 HG01261.hp2 HG01346.hp1 HG01952.hp1 HG01978.hp1 HG02293.hp1 HG02717.hp2 HG02897.hp1 NA18950.hp1 NA19011.hp1 NA19068.hp1 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0075 a0001c0001t0001g0119 others(10): Show a0001c0001t0001g0004 a0001c0001t0001g0075 a0001c0001t0001g0119 a0001c0001t0001g0201 a0001c0001t0001g0219 a0001c0001t0001g0220 a0001c0001t0001g0221 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0256 a0001c0001t0001g0268 a0001c0001t0001g0285 a0001c0001t0001g0314	15	384	0.0391	13	c.17- others(28): Show c.17-1262_17-1261insGAAAGAAAGAAAG	HPN	ENSG00000105707.15	transcript	ENST00000672452.2	protein_coding	2/12			chr19	TogoVar
HPS3_chr3_149124638_149178732	149175680	T T	TGTGTGTG others(6): Show TGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp2 HG01255.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0120 a0001c0004t0004g0120	1	392	0.0026	13	c.34 others(24): Show c.3458_*3459insGTGTGTGTGTGTG	HPS3	ENSG00000163755.9	transcript	ENST00000296051.7	protein_coding		1949		chr3	TogoVar
HPS5_chr11_18273676_18327140	18302830	G G	GGGGGGGG others(6): Show GGGGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02572.hp1 HG02257.hp2 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0328 a0001c0001t0013g0297 a0001c0001t0001g0328 a0001c0001t0013g0297	2	372	0.0054	13	c.897 others(30): Show c.897-1915_897-1914insTCCCCCCCCCCCC	HPS5	ENSG00000110756.18	transcript	ENST00000349215.8	protein_coding	8/22			chr11	TogoVar
HPS5_chr11_18273676_18327140	18302831	G G	GGAGGGGG others(6): Show GGAGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00323.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0025 a0001c0003t0001g0025	1	372	0.0027	13	c.897 others(30): Show c.897-1916_897-1915insTCCCCCCCCCCTC	HPS5	ENSG00000110756.18	transcript	ENST00000349215.8	protein_coding	8/22			chr11	TogoVar
HPS5_chr11_18273676_18327140	18302831	G G	GGGGGGGG others(6): Show GGGGGGGGGGGGGA	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00642.hp1 HG02109.hp1 others(6): Show HG00280.hp2 HG00642.hp1 HG02109.hp1 HG02280.hp2 HG02559.hp1 HG02970.hp2 NA19002.hp2 NA19068.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0001c0003t0004	a0001c0001t0001g0078 a0001c0001t0002g0210 a0001c0001t0002g0264 others(6): Show a0001c0001t0001g0078 a0001c0001t0002g0210 a0001c0001t0002g0264 a0001c0001t0002g0276 a0001c0001t0002g0289 a0001c0001t0002g0291 a0001c0001t0006g0345 a0001c0003t0004g0029 a0001c0003t0004g0030	9	372	0.0242	13	c.897 others(30): Show c.897-1916_897-1915insTCCCCCCCCCCCC	HPS5	ENSG00000110756.18	transcript	ENST00000349215.8	protein_coding	8/22			chr11	TogoVar
HPSE2_chr10_98452077_99240852	98475580	C C	CCCTCAGA others(6): Show CCCTCAGAAATATA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00438.hp1 others(72): Show HG00423.hp1 HG00423.hp2 HG00438.hp1 HG00438.hp2 HG00597.hp1 HG00639.hp2 HG01081.hp1 HG01109.hp1 HG01109.hp2 HG01255.hp1 HG01361.hp2 HG01884.hp1 HG01891.hp2 HG01981.hp1 HG01993.hp2 HG02055.hp2 HG02083.hp2 HG02129.hp2 HG02135.hp1 HG02135.hp2 HG02145.hp1 HG02257.hp1 HG02257.hp2 HG02258.hp1 HG02258.hp2 HG02451.hp2 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02647.hp2 HG02723.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02965.hp1 HG03098.hp1 HG03098.hp2 HG03130.hp1 HG03130.hp2 HG03209.hp2 HG03471.hp1 HG03490.hp1 HG03490.hp2 HG03540.hp2 HG03579.hp1 HG03579.hp2 HG03654.hp1 HG03710.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp2 NA18747.hp2 NA18906.hp2 NA18939.hp1 NA18946.hp1 NA18950.hp2 NA18968.hp1 NA18968.hp2 NA18974.hp1 NA18974.hp2 NA18977.hp2 NA18982.hp2 NA19003.hp2 NA19030.hp1 NA19043.hp1 NA19043.hp2 NA19240.hp1 NA19240.hp2 NA20129.hp1 NA20129.hp2 NA21309.hp1 NA21309.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0005c0005	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(24): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0008 a0001c0001t0009 a0001c0001t0014 a0001c0001t0016 a0001c0001t0017 a0001c0001t0023 a0001c0001t0026 a0001c0001t0027 a0001c0001t0028 a0001c0001t0030 a0001c0001t0031 a0002c0002t0007 a0002c0002t0010 a0002c0002t0011 a0002c0002t0013 a0002c0002t0015 a0002c0002t0020 a0002c0002t0021 a0003c0003t0001 a0003c0003t0003 a0004c0004t0015 a0005c0005t0001	a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0038 others(72): Show a0001c0001t0001g0013 a0001c0001t0001g0024 a0001c0001t0001g0038 a0001c0001t0001g0052 a0001c0001t0001g0055 a0001c0001t0001g0058 a0001c0001t0001g0060 a0001c0001t0001g0071 a0001c0001t0001g0079 a0001c0001t0001g0086 a0001c0001t0001g0092 a0001c0001t0003g0069 a0001c0001t0003g0075 a0001c0001t0003g0077 a0001c0001t0003g0114 a0001c0001t0003g0125 a0001c0001t0003g0131 a0001c0001t0003g0135 a0001c0001t0004g0033 a0001c0001t0004g0070 a0001c0001t0004g0088 a0001c0001t0004g0112 a0001c0001t0004g0115 a0001c0001t0005g0027 a0001c0001t0005g0066 a0001c0001t0005g0082 a0001c0001t0005g0091 a0001c0001t0005g0093 a0001c0001t0005g0094 a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0104 a0001c0001t0006g0106 a0001c0001t0006g0107 a0001c0001t0008g0004 a0001c0001t0008g0030 a0001c0001t0008g0067 a0001c0001t0008g0084 a0001c0001t0009g0049 a0001c0001t0009g0057 a0001c0001t0009g0103 a0001c0001t0009g0122 a0001c0001t0014g0102 a0001c0001t0014g0136 a0001c0001t0016g0025 a0001c0001t0016g0124 a0001c0001t0017g0053 a0001c0001t0017g0054 a0001c0001t0023g0141 a0001c0001t0026g0105 a0001c0001t0027g0003 a0001c0001t0028g0097 a0001c0001t0030g0108 a0001c0001t0031g0109 a0002c0002t0007g0010 a0002c0002t0007g0031 a0002c0002t0007g0032 a0002c0002t0007g0101 a0002c0002t0010g0021 a0002c0002t0010g0042 a0002c0002t0010g0056 a0002c0002t0011g0012 a0002c0002t0011g0074 a0002c0002t0011g0081 a0002c0002t0013g0046 a0002c0002t0013g0063 a0002c0002t0013g0113 a0002c0002t0015g0002 a0002c0002t0020g0139 a0002c0002t0021g0099 a0003c0003t0001g0073 a0003c0003t0003g0090 a0003c0003t0003g0111 a0004c0004t0015g0110 a0005c0005t0001g0085	75	142	0.5282	13	c.161 others(32): Show c.1613+7055_1613+7056insTATATTTCTGAGG	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	11/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98600926	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00423.hp2 HG00639.hp1 others(28): Show HG00323.hp1 HG00423.hp2 HG00639.hp1 HG01167.hp2 HG01255.hp2 HG01361.hp1 HG01928.hp1 HG01928.hp2 HG01981.hp1 HG01981.hp2 HG01993.hp1 HG02083.hp2 HG02257.hp1 HG02273.hp1 HG02523.hp1 HG03654.hp2 HG06807.hp1 NA18747.hp1 NA18939.hp1 NA18950.hp2 NA18954.hp2 NA18962.hp2 NA18965.hp1 NA18965.hp2 NA18966.hp2 NA18977.hp1 NA18979.hp1 NA18982.hp1 NA19003.hp2 NA19009.hp2 NA19083.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(9): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0017 a0001c0001t0024 a0001c0001t0025 a0001c0001t0029 a0002c0002t0002 a0002c0002t0010 a0002c0002t0013 a0002c0002t0018 a0002c0002t0019	a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 others(28): Show a0001c0001t0001g0011 a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0018 a0001c0001t0001g0023 a0001c0001t0001g0036 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0071 a0001c0001t0001g0127 a0001c0001t0001g0138 a0001c0001t0003g0114 a0001c0001t0003g0131 a0001c0001t0004g0095 a0001c0001t0017g0054 a0001c0001t0024g0132 a0001c0001t0025g0130 a0001c0001t0029g0083 a0002c0002t0002g0015 a0002c0002t0002g0016 a0002c0002t0002g0017 a0002c0002t0002g0022 a0002c0002t0002g0040 a0002c0002t0002g0068 a0002c0002t0002g0118 a0002c0002t0002g0120 a0002c0002t0010g0021 a0002c0002t0013g0113 a0002c0002t0018g0044 a0002c0002t0019g0089	31	142	0.2183	13	c.132 others(34): Show c.1320+13965_1320+13977dupTATATATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	9/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98778297	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0137 a0001c0001t0001g0137	1	142	0.0070	13	c.611 others(32): Show c.611-34242_611-34241insCTCTCTCTCTCTC	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	98888135	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0113 a0002c0002t0013g0113	1	142	0.0070	13	c.611 others(34): Show c.611-144080_611-144079insGTGTGTGTGTGTG	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99094540	A A	ATATATAT others(6): Show ATATATATATATTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0102 a0001c0001t0014g0102	1	142	0.0070	13	c.610 others(32): Show c.610+49697_610+49698insAAATATATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99094540	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0013 a0002c0002t0013	a0002c0002t0013g0113 a0002c0002t0013g0113	1	142	0.0070	13	c.610 others(32): Show c.610+49697_610+49698insAAAAATATATATA	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99094541	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01993.hp1 HG02257.hp1 HG01928.hp1 HG01993.hp1 HG02257.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0002 a0001c0001t0001 a0002c0002t0002	a0001c0001t0001g0013 a0002c0002t0002g0015 a0002c0002t0002g0016 a0001c0001t0001g0013 a0002c0002t0002g0015 a0002c0002t0002g0016	3	142	0.0211	13	c.610 others(32): Show c.610+49696_610+49697insTATATATATATAT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99132233	G G	GAAGAAAG others(6): Show GAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0007 a0001c0001t0006g0007	1	142	0.0070	13	c.610 others(32): Show c.610+12004_610+12005insTTCTTTCTTTCTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	3/11			chr10	TogoVar
HPSE2_chr10_98452077_99240852	99181397	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0004 a0001c0001t0008g0004	1	142	0.0070	13	c.449 others(32): Show c.449-37011_449-36999dupTTTTTTTTTTTTT	HPSE2	ENSG00000172987.14	transcript	ENST00000370552.8	protein_coding	2/11			chr10	TogoVar
HPSE_chr4_83287461_83339848	83339052	C C	CAGACTGA others(6): Show CAGACTGATTCAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp1 HG00099.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0023 a0002c0002t0023	a0002c0002t0023g0313 a0002c0002t0023g0313	1	320	0.0031	13	c.-42 others(24): Show c.-4271_-4270insTCTGAATCAGTCT	HPSE	ENSG00000173083.16	transcript	ENST00000311412.10	protein_coding		4205		chr4	TogoVar
HRH1_chr3_11149493_11268557	11181000	C C	CACACACA others(6): Show CACACACACACACA	intron_variant intron_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0024	1	352	0.0028	13	c.-36 others(32): Show c.-36+26446_-36+26447insACACACACACACA	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1			chr3	TogoVar
HRH1_chr3_11149493_11268557	11202436	A A	AAATAAAT others(6): Show AAATAAATAAATAT	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0006 a0001c0001t0003g0006	1	352	0.0028	13	c.-36 others(32): Show c.-36+47883_-36+47884insATAAATAAATATA	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr3	TogoVar
HRH1_chr3_11149493_11268557	11242509	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0002 a0003c0005t0002	a0003c0005t0002g0341 a0003c0005t0002g0341	1	352	0.0028	13	c.-35 others(32): Show c.-35-16494_-35-16493insAAAAAAAAAAAAT	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding	1/1			chr3	TogoVar
HRH1_chr3_11149493_11268557	11268006	T T	TCTCTCTC others(6): Show TCTCTCTCCACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0283 a0001c0001t0001g0283	1	352	0.0028	13	c.75 others(24): Show c.7505_*7506insCTCTCTCCACACA	HRH1	ENSG00000196639.7	transcript	ENST00000431010.3	protein_coding		4450		chr3	TogoVar
HRH4_chr18_24455637_24484961	24471606	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0134 a0001c0001t0009g0134	1	424	0.0024	13	c.357 others(30): Show c.357+2670_357+2682dupAAAAAAAAAAAAA	HRH4	ENSG00000134489.7	transcript	ENST00000256906.5	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr18	TogoVar
HRK_chr12_116851144_116886441	116868253	G G	GCTAAAAT others(6): Show GCTAAAATGCCTGA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG00609.hp1 others(122): Show HG00423.hp2 HG00438.hp2 HG00609.hp1 HG00621.hp2 HG00642.hp2 HG01074.hp2 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01109.hp2 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01243.hp1 HG01256.hp2 HG01258.hp2 HG01261.hp2 HG01358.hp1 HG01361.hp1 HG01433.hp1 HG01884.hp2 HG02015.hp2 HG02040.hp1 HG02040.hp2 HG02055.hp2 HG02056.hp1 HG02056.hp2 HG02071.hp2 HG02083.hp1 HG02109.hp1 HG02132.hp2 HG02135.hp1 HG02145.hp2 HG02148.hp2 HG02155.hp1 HG02257.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp1 HG02451.hp2 HG02486.hp2 HG02523.hp1 HG02559.hp1 HG02559.hp2 HG02572.hp2 HG02615.hp1 HG02615.hp2 HG02622.hp2 HG02647.hp2 HG02683.hp1 HG02735.hp1 HG02738.hp1 HG02809.hp1 HG02818.hp2 HG02886.hp1 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG02922.hp2 HG02965.hp2 HG02970.hp1 HG02976.hp2 HG03017.hp1 HG03041.hp1 HG03130.hp2 HG03139.hp2 HG03195.hp2 HG03209.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp2 HG03492.hp2 HG03540.hp1 HG03540.hp2 HG03579.hp2 HG03927.hp1 HG04228.hp1 NA18522.hp1 NA18522.hp2 NA18906.hp2 NA18939.hp1 NA18941.hp2 NA18943.hp1 NA18944.hp1 NA18947.hp2 NA18948.hp2 NA18949.hp1 NA18950.hp1 NA18951.hp1 NA18954.hp2 NA18957.hp1 NA18960.hp1 NA18963.hp2 NA18967.hp2 NA18968.hp2 NA18975.hp1 NA18980.hp2 NA18985.hp2 NA18986.hp2 NA18991.hp1 NA18992.hp1 NA18993.hp1 NA19005.hp2 NA19006.hp2 NA19007.hp2 NA19009.hp1 NA19012.hp1 NA19043.hp2 NA19058.hp1 NA19060.hp2 NA19063.hp1 NA19063.hp2 NA19064.hp1 NA19067.hp2 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19079.hp2 NA19081.hp1 NA19240.hp1 NA20129.hp1 NA20300.hp2 NA20805.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0004 a0001c0001 a0001c0003 a0002c0004	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(41): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007 a0001c0001t0009 a0001c0001t0011 a0001c0001t0015 a0001c0001t0025 a0001c0001t0027 a0001c0001t0028 a0001c0001t0032 a0001c0001t0033 a0001c0001t0037 a0001c0001t0038 a0001c0001t0042 a0001c0001t0043 a0001c0001t0044 a0001c0001t0050 a0001c0001t0051 a0001c0001t0052 a0001c0001t0053 a0001c0001t0056 a0001c0001t0057 a0001c0001t0075 a0001c0001t0078 a0001c0001t0079 a0001c0001t0097 a0001c0001t0098 a0001c0001t0100 a0001c0001t0104 a0001c0001t0105 a0001c0001t0106 a0001c0001t0108 a0001c0001t0110 a0001c0001t0111 a0001c0001t0112 a0001c0001t0113 a0001c0001t0114 a0001c0001t0118 a0001c0001t0119 a0001c0001t0120 a0001c0001t0121 a0001c0003t0103 a0002c0004t0077	a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0021 others(95): Show a0001c0001t0002g0004 a0001c0001t0002g0010 a0001c0001t0002g0021 a0001c0001t0002g0048 a0001c0001t0002g0057 a0001c0001t0002g0069 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0094 a0001c0001t0002g0099 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0119 a0001c0001t0002g0217 a0001c0001t0002g0231 a0001c0001t0002g0252 a0001c0001t0003g0013 a0001c0001t0003g0016 a0001c0001t0003g0023 a0001c0001t0003g0049 a0001c0001t0003g0072 a0001c0001t0003g0090 a0001c0001t0003g0093 a0001c0001t0003g0097 a0001c0001t0003g0112 a0001c0001t0003g0117 a0001c0001t0003g0118 a0001c0001t0003g0125 a0001c0001t0003g0204 a0001c0001t0003g0210 a0001c0001t0003g0214 a0001c0001t0006g0007 a0001c0001t0006g0009 a0001c0001t0006g0015 a0001c0001t0006g0075 a0001c0001t0007g0003 a0001c0001t0007g0073 a0001c0001t0007g0101 a0001c0001t0007g0213 a0001c0001t0009g0022 a0001c0001t0009g0031 a0001c0001t0009g0065 a0001c0001t0009g0098 a0001c0001t0011g0018 a0001c0001t0011g0058 a0001c0001t0011g0080 a0001c0001t0011g0096 a0001c0001t0015g0017 a0001c0001t0015g0066 a0001c0001t0025g0020 a0001c0001t0025g0078 a0001c0001t0027g0044 a0001c0001t0027g0062 a0001c0001t0027g0071 a0001c0001t0028g0036 a0001c0001t0028g0040 a0001c0001t0032g0067 a0001c0001t0032g0077 a0001c0001t0033g0086 a0001c0001t0033g0229 a0001c0001t0037g0019 a0001c0001t0038g0060 a0001c0001t0038g0074 a0001c0001t0042g0059 a0001c0001t0042g0076 a0001c0001t0043g0064 a0001c0001t0043g0068 a0001c0001t0044g0206 a0001c0001t0044g0207 a0001c0001t0050g0038 a0001c0001t0051g0039 a0001c0001t0052g0037 a0001c0001t0053g0042 a0001c0001t0056g0084 a0001c0001t0057g0082 a0001c0001t0075g0079 a0001c0001t0078g0095 a0001c0001t0079g0085 a0001c0001t0097g0193 a0001c0001t0098g0087 a0001c0001t0100g0047 a0001c0001t0104g0088 a0001c0001t0105g0054 a0001c0001t0106g0191 a0001c0001t0108g0089 a0001c0001t0110g0113 a0001c0001t0111g0211 a0001c0001t0112g0063 a0001c0001t0113g0212 a0001c0001t0114g0091 a0001c0001t0118g0103 a0001c0001t0119g0092 a0001c0001t0120g0051 a0001c0001t0121g0070 a0001c0003t0103g0043 a0002c0004t0077g0289	125	366	0.3415	13	c.57 others(30): Show c.57-6800_*57-6788dupTCAGGCATTTTAG	HRK	ENSG00000135116.9	transcript	ENST00000257572.5	protein_coding	1/1			chr12	TogoVar
HS2ST1_chr1_86909635_87114982	86990837	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00408.hp2 HG00741.hp1 others(10): Show HG00140.hp1 HG00408.hp2 HG00741.hp1 HG02258.hp1 HG02896.hp1 HG02897.hp2 HG03017.hp1 HG03098.hp2 HG03471.hp2 HG03492.hp2 HG03669.hp1 HG03942.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014	a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0085 others(10): Show a0001c0001t0001g0068 a0001c0001t0001g0070 a0001c0001t0001g0085 a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0002g0015 a0001c0001t0002g0017 a0001c0001t0005g0135 a0001c0001t0005g0136 a0001c0001t0005g0138 a0001c0001t0010g0063 a0001c0001t0012g0093 a0001c0001t0014g0126	13	154	0.0844	13	c.124 others(32): Show c.124+75677_124+75678insATATATATATATA	HS2ST1	ENSG00000153936.18	transcript	ENST00000370550.10	protein_coding	1/6			chr1	TogoVar
HS3ST1_chr4_11388150_11433894	11429643	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00544.hp1 HG00558.hp1 HG01255.hp1 others(10): Show HG00544.hp1 HG00558.hp1 HG01255.hp1 HG01993.hp1 HG02273.hp1 HG02622.hp2 HG02976.hp1 HG03017.hp2 NA18956.hp1 NA18960.hp2 NA18970.hp1 NA18978.hp1 NA19004.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(3): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0012 a0001c0001t0019 a0001c0001t0062	a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 others(9): Show a0001c0001t0001g0023 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0251 a0001c0001t0001g0252 a0001c0001t0001g0317 a0001c0001t0001g0383 a0001c0001t0003g0045 a0001c0001t0005g0231 a0001c0001t0012g0384 a0001c0001t0019g0309 a0001c0001t0062g0042	13	440	0.0296	13	c.-10 others(24): Show c.-1054_-1053insAAAAAAAAAAAAA	HS3ST1	ENSG00000002587.10	transcript	ENST00000002596.6	protein_coding		750		chr4	TogoVar
HS3ST2_chr16_22809162_22921338	22832151	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02074.hp1 NA19086.hp1 HG02074.hp1 NA19086.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0212 a0001c0002t0001g0348 a0001c0001t0001g0212 a0001c0002t0001g0348	2	350	0.0057	13	c.485 others(32): Show c.485+17062_485+17074dupTTTTTTTTTTTTT	HS3ST2	ENSG00000122254.7	transcript	ENST00000261374.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr16	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)