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
H2BK1_chr7_151202837_151215488	151206743	T T	TAGATAGA others(6): Show TAGATAGATAGATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19076.hp1 NA19076.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0013 a0002c0002t0001g0013	1	410	0.0024	13	c.11 others(24): Show c.1127_*1128insTATCTATCTATCT	H2BK1	ENSG00000285480.2	transcript	ENST00000644661.2	protein_coding		1093		chr7	TogoVar
H3-3B_chr17_75771434_75784779	75782239	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG02717.hp2 NA18612.hp2 others(3): Show HG01069.hp2 HG02717.hp2 NA18612.hp2 NA18747.hp1 NA18939.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0006 a0001c0001t0038 others(1): Show a0001c0001t0003 a0001c0001t0006 a0001c0001t0038 a0001c0001t0040	a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0006g0036 others(2): Show a0001c0001t0003g0004 a0001c0001t0003g0006 a0001c0001t0006g0036 a0001c0001t0038g0060 a0001c0001t0040g0056	6	432	0.0139	13	c.-26 others(24): Show c.-2606_-2594dupAAAAAAAAAAAAA	H3-3B	ENSG00000132475.10	transcript	ENST00000254810.8	protein_coding		2461		chr17	TogoVar
H3C11_chr6_27866845_27877346	27875500	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	1	374	0.0027	13	c.-31 others(24): Show c.-3186_-3185insAAAAAAAAAAAAA	H3C11	ENSG00000275379.2	transcript	ENST00000616365.2	protein_coding		3155		chr6	TogoVar
H3C14_chr1_149835687_149846208	149838391	T T	TCACACAC others(6): Show TCACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	302	0.0033	13	c.23 others(24): Show c.2355_*2356insGTGTGTGTGTGTG	H3C14	ENSG00000203811.2	transcript	ENST00000369158.2	protein_coding		2295		chr1	TogoVar
H3C14_chr1_149835687_149846208	149838393	A A	ACACACAC others(6): Show ACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	302	0.0033	13	c.23 others(24): Show c.2353_*2354insGTGTGTGTGTGTG	H3C14	ENSG00000203811.2	transcript	ENST00000369158.2	protein_coding		2293		chr1	TogoVar
H3C14_chr1_149835687_149846208	149838404	A A	ACACACAC others(6): Show ACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	302	0.0033	13	c.23 others(24): Show c.2330_*2342dupGTGTGTGTGTGTG	H3C14	ENSG00000203811.2	transcript	ENST00000369158.2	protein_coding		2282		chr1	TogoVar
H3C2_chr6_26026589_26037099	26031178	A A	ATATATAT others(6): Show ATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01255.hp1 HG03710.hp2 HG04228.hp1 HG01255.hp1 HG03710.hp2 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	396	0.0076	13	c.47 others(22): Show c.471_*472insATATATATATATA	H3C2	ENSG00000286522.2	transcript	ENST00000621411.3	protein_coding		410		chr6	TogoVar
H3C8_chr6_26265918_26276413	26266604	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01358.hp1 HG01361.hp2 HG02055.hp1 HG01358.hp1 HG01361.hp2 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	398	0.0075	13	c.43 others(24): Show c.4369_*4370insTTTTTTTTTTTTT	H3C8	ENSG00000273983.2	transcript	ENST00000614378.2	protein_coding		4313		chr6	TogoVar
H4C11_chr6_27819092_27829480	27821304	T T	TAAAAGAA others(6): Show TAAAAGAATTCCAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	396	0.0025	13	c.-28 others(24): Show c.-2821_-2820insAAAAGAATTCCAC	H4C11	ENSG00000197238.5	transcript	ENST00000355057.3	protein_coding		2787		chr6	TogoVar
H4C12_chr6_27826174_27836560	27832868	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG03654.hp1 HG02738.hp1 HG03654.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	419	0.0048	13	c.-13 others(24): Show c.-1342_-1341insAAAAAAAAAAAAA	H4C12	ENSG00000273542.2	transcript	ENST00000611927.2	protein_coding		1309		chr6	TogoVar
H4C13_chr6_27868148_27878534	27875500	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	384	0.0026	13	c.-19 others(24): Show c.-1991_-1990insAAAAAAAAAAAAA	H4C13	ENSG00000275126.2	transcript	ENST00000618305.2	protein_coding		1967		chr6	TogoVar
H4C14_chr1_149827657_149838052	149827857	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01192.hp1 HG01243.hp2 HG01346.hp1 others(17): Show HG01192.hp1 HG01243.hp2 HG01346.hp1 HG01358.hp1 HG01361.hp2 HG02015.hp1 HG02129.hp2 HG02155.hp2 HG02165.hp1 HG02165.hp2 HG02717.hp2 HG02895.hp1 HG02895.hp2 HG03017.hp2 HG03492.hp2 HG03540.hp2 HG04204.hp1 HG04204.hp2 NA18983.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	20	236	0.0848	13	c.-48 others(24): Show c.-4828_-4827insTTTCTTTCTTTCT	H4C14	ENSG00000270882.3	transcript	ENST00000578186.3	protein_coding		4799		chr1	TogoVar
H4C2_chr6_26021896_26032283	26031178	A A	ATATATAT others(6): Show ATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01255.hp1 HG03710.hp1 HG04228.hp2 HG01255.hp1 HG03710.hp1 HG04228.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	400	0.0075	13	c.-39 others(24): Show c.-3927_-3926insATATATATATATA	H4C2	ENSG00000278705.3	transcript	ENST00000377745.5	protein_coding		3896		chr6	TogoVar
H6PD_chr1_9229774_9276337	9237236	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00438.hp2 HG00544.hp2 others(38): Show HG00438.hp1 HG00438.hp2 HG00544.hp2 HG00597.hp1 HG00621.hp2 HG00733.hp1 HG01070.hp2 HG01106.hp1 HG01192.hp2 HG01255.hp2 HG01943.hp1 HG01952.hp2 HG01993.hp2 HG02004.hp1 HG02027.hp2 HG02040.hp2 HG02083.hp1 HG02148.hp1 HG02486.hp1 HG02683.hp1 HG03710.hp1 HG04228.hp1 NA18945.hp2 NA18947.hp2 NA18949.hp2 NA18957.hp1 NA18959.hp1 NA18967.hp1 NA18979.hp1 NA18995.hp2 NA18999.hp2 NA19002.hp1 NA19007.hp1 NA19012.hp1 NA19012.hp2 NA19055.hp2 NA19057.hp2 NA19068.hp1 NA19075.hp1 NA19087.hp1 NA20905.hp2	a0001 a0002 a0021 a0001 a0002 a0021	a0001c0001 a0001c0003 a0002c0002 others(4): Show a0001c0001 a0001c0003 a0002c0002 a0002c0010 a0002c0029 a0002c0034 a0021c0028	a0001c0001t0022 a0001c0003t0002 a0001c0003t0004 others(17): Show a0001c0001t0022 a0001c0003t0002 a0001c0003t0004 a0001c0003t0013 a0001c0003t0093 a0001c0003t0100 a0002c0002t0002 a0002c0002t0004 a0002c0002t0016 a0002c0002t0025 a0002c0002t0096 a0002c0002t0097 a0002c0002t0105 a0002c0002t0106 a0002c0002t0113 a0002c0010t0040 a0002c0010t0121 a0002c0029t0120 a0002c0034t0002 a0021c0028t0002	a0001c0001t0022g0125 a0001c0003t0002g0005 a0001c0003t0002g0012 others(29): Show a0001c0001t0022g0125 a0001c0003t0002g0005 a0001c0003t0002g0012 a0001c0003t0002g0031 a0001c0003t0002g0111 a0001c0003t0002g0115 a0001c0003t0002g0116 a0001c0003t0004g0013 a0001c0003t0004g0118 a0001c0003t0013g0032 a0001c0003t0013g0081 a0001c0003t0013g0159 a0001c0003t0093g0031 a0001c0003t0100g0145 a0002c0002t0002g0005 a0002c0002t0002g0012 a0002c0002t0002g0113 a0002c0002t0004g0117 a0002c0002t0004g0119 a0002c0002t0004g0123 a0002c0002t0016g0030 a0002c0002t0025g0013 a0002c0002t0096g0114 a0002c0002t0097g0112 a0002c0002t0105g0120 a0002c0002t0106g0012 a0002c0002t0113g0126 a0002c0010t0040g0013 a0002c0010t0121g0122 a0002c0029t0120g0121 a0002c0034t0002g0124 a0021c0028t0002g0012	41	404	0.1015	13	c.-11 others(30): Show c.-11+2184_-11+2196dupTTTTTTTTTTTTT	H6PD	ENSG00000049239.13	transcript	ENST00000377403.7	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr1	TogoVar
H6PD_chr1_9229774_9276337	9270947	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01070.hp1 HG01884.hp1 HG02257.hp2 others(14): Show HG01070.hp1 HG01884.hp1 HG02257.hp2 HG02451.hp1 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2	a0001 a0002 a0008 others(1): Show a0001 a0002 a0008 a0011	a0001c0001 a0001c0003 a0001c0004 others(4): Show a0001c0001 a0001c0003 a0001c0004 a0001c0025 a0002c0005 a0008c0018 a0011c0052	a0001c0001t0074 a0001c0001t0075 a0001c0003t0109 others(7): Show a0001c0001t0074 a0001c0001t0075 a0001c0003t0109 a0001c0004t0009 a0001c0004t0068 a0001c0004t0071 a0001c0025t0009 a0002c0005t0048 a0008c0018t0009 a0011c0052t0069	a0001c0001t0074g0222 a0001c0001t0075g0010 a0001c0003t0109g0085 others(12): Show a0001c0001t0074g0222 a0001c0001t0075g0010 a0001c0003t0109g0085 a0001c0004t0009g0037 a0001c0004t0009g0038 a0001c0004t0009g0165 a0001c0004t0009g0166 a0001c0004t0009g0167 a0001c0004t0009g0170 a0001c0004t0068g0020 a0001c0004t0071g0038 a0001c0025t0009g0020 a0002c0005t0048g0022 a0008c0018t0009g0035 a0011c0052t0069g0060	17	404	0.0421	13	c.60 others(24): Show c.6090_*6091insTTTTTTTTTTTTT	H6PD	ENSG00000049239.13	transcript	ENST00000377403.7	protein_coding	5/5	6091	INFO_REALIGN_3_PRIME	chr1	TogoVar
HAAO_chr2_42762089_42797583	42765682	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18968.hp2 NA18990.hp1 NA18968.hp2 NA18990.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0368 a0001c0001t0001g0371 a0001c0001t0001g0368 a0001c0001t0001g0371	2	410	0.0049	13	c.17 others(24): Show c.1754_*1755insGTTTTTTTTTTTT	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		1406		chr2	TogoVar
HAAO_chr2_42762089_42797583	42765686	A A	AAAAAAAA others(6): Show AAAAAAAAAAAAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02148.hp1 HG02976.hp2 HG04115.hp2 HG02148.hp1 HG02976.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0312 a0001c0001t0001g0344 a0001c0001t0001g0362 a0001c0001t0001g0312 a0001c0001t0001g0344 a0001c0001t0001g0362	3	410	0.0073	13	c.17 others(24): Show c.1750_*1751insGTTTTTTTTTTTT	HAAO	ENSG00000162882.15	transcript	ENST00000294973.11	protein_coding		1402		chr2	TogoVar
HABP4_chr9_96445169_96496336	96447277	A A	AACACACA others(6): Show AACACACAACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0113 a0001c0001t0001g0113	1	306	0.0033	13	c.-30 others(24): Show c.-3003_-3002insACACACAACACAC	HABP4	ENSG00000130956.14	transcript	ENST00000375249.5	protein_coding		2891		chr9	TogoVar
HABP4_chr9_96445169_96496336	96447324	A A	ACACACAC others(6): Show ACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18954.hp1 NA19084.hp2 NA18954.hp1 NA19084.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0180 a0001c0001t0001g0114 a0001c0001t0001g0180	2	306	0.0065	13	c.-29 others(24): Show c.-2956_-2955insCACACACACACAC	HABP4	ENSG00000130956.14	transcript	ENST00000375249.5	protein_coding		2844		chr9	TogoVar
HACD1_chr10_17584032_17622374	17591976	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02818.hp1 HG02258.hp2 HG02818.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0006 a0003c0003t0003 a0001c0001t0006 a0003c0003t0003	a0001c0001t0006g0255 a0003c0003t0003g0248 a0001c0001t0006g0255 a0003c0003t0003g0248	2	410	0.0049	13	c.785 others(30): Show c.785-1543_785-1531dupAAAAAAAAAAAAA	HACD1	ENSG00000165996.14	transcript	ENST00000361271.8	protein_coding	6/6			chr10	TogoVar
HACD2_chr3_123486554_123590053	123542146	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19085.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0021 a0001c0002t0005g0021	1	350	0.0029	13	c.293 others(32): Show c.293-13685_293-13673dupTTTTTTTTTTTTT	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	3/6			chr3	TogoVar
HACD3_chr15_65525463_65583349	65556460	A A	ATGGAGAG others(6): Show ATGGAGAGCGAGTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00323.hp1 HG00408.hp1 others(99): Show HG00140.hp2 HG00323.hp1 HG00408.hp1 HG00423.hp1 HG00544.hp2 HG00621.hp2 HG00733.hp2 HG00735.hp2 HG00738.hp1 HG00738.hp2 HG01069.hp2 HG01070.hp2 HG01071.hp2 HG01099.hp1 HG01099.hp2 HG01192.hp2 HG01243.hp2 HG01255.hp1 HG01255.hp2 HG01346.hp2 HG01433.hp1 HG01515.hp2 HG01516.hp1 HG01517.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01993.hp2 HG02004.hp1 HG02004.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02083.hp1 HG02132.hp2 HG02148.hp1 HG02273.hp2 HG02486.hp2 HG02602.hp2 HG02615.hp2 HG02809.hp2 HG03017.hp1 HG03017.hp2 HG03239.hp2 HG03471.hp1 HG03491.hp1 HG03492.hp2 HG03516.hp2 HG03654.hp1 HG03654.hp2 HG03669.hp1 HG03688.hp1 HG03831.hp2 HG03834.hp1 HG04184.hp1 HG04199.hp1 HG04204.hp1 HG04228.hp1 NA18612.hp1 NA18939.hp2 NA18942.hp2 NA18947.hp1 NA18949.hp2 NA18950.hp2 NA18954.hp1 NA18955.hp1 NA18964.hp2 NA18965.hp2 NA18968.hp2 NA18975.hp2 NA18977.hp2 NA18984.hp2 NA18986.hp1 NA18992.hp2 NA18994.hp1 NA18995.hp2 NA18999.hp1 NA18999.hp2 NA19000.hp1 NA19001.hp2 NA19003.hp2 NA19004.hp2 NA19010.hp2 NA19011.hp1 NA19012.hp1 NA19056.hp2 NA19058.hp2 NA19060.hp1 NA19063.hp2 NA19065.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp2 NA19077.hp1 NA19081.hp1 NA19085.hp2 NA19087.hp1 NA20129.hp1 NA20752.hp2 NA20905.hp2 NA21309.hp1 homoSapiens_chm13v2.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0007 a0001c0001t0008 a0001c0001t0001 a0001c0001t0007 a0001c0001t0008	a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(92): Show a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0023 a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0075 a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0001g0078 a0001c0001t0001g0079 a0001c0001t0001g0080 a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 a0001c0001t0001g0084 a0001c0001t0001g0085 a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 a0001c0001t0001g0092 a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0100 a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0176 a0001c0001t0001g0177 a0001c0001t0001g0178 a0001c0001t0001g0181 a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0001g0190 a0001c0001t0001g0191 a0001c0001t0001g0192 a0001c0001t0001g0195 a0001c0001t0007g0051 a0001c0001t0007g0184 a0001c0001t0007g0185 a0001c0001t0007g0186 a0001c0001t0007g0187 a0001c0001t0008g0038 a0001c0001t0008g0179 a0001c0001t0008g0180	102	328	0.3110	13	c.205 others(28): Show c.205-277_205-265dupGGAGAGCGAGTCT	HACD3	ENSG00000074696.13	transcript	ENST00000261875.10	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
HACE1_chr6_104723094_104864919	104745455	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01952.hp1 HG02056.hp1 others(11): Show HG01515.hp1 HG01952.hp1 HG02056.hp1 HG02257.hp1 HG02280.hp1 HG02572.hp2 HG02717.hp2 HG03471.hp1 HG03579.hp2 NA18967.hp1 NA18972.hp2 NA18993.hp1 NA20300.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0010 a0001c0001t0002g0030 a0001c0001t0002g0062 others(11): Show a0001c0001t0002g0010 a0001c0001t0002g0030 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0072 a0001c0001t0002g0074 a0001c0002t0001g0083 a0001c0002t0001g0085 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0090 a0001c0002t0001g0093 a0001c0002t0001g0099 a0001c0002t0001g0100	14	346	0.0405	13	c.234 others(30): Show c.2344-846_2344-845insAAAAAAAAAAAAA	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	20/23			chr6	TogoVar
HADHB_chr2_26239939_26295465	26266871	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0241 a0001c0001t0001g0241	1	290	0.0035	13	c.210 others(30): Show c.210-3071_210-3059dupAAAAAAAAAAAAA	HADHB	ENSG00000138029.14	transcript	ENST00000317799.10	protein_coding	4/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
HADHB_chr2_26239939_26295465	26285739	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03225.hp2 HG03471.hp1 others(2): Show HG01106.hp2 HG03225.hp2 HG03471.hp1 HG03486.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0005 a0001c0001 a0003c0005	a0001c0001t0001 a0003c0005t0004 a0001c0001t0001 a0003c0005t0004	a0001c0001t0001g0082 a0001c0001t0001g0164 a0001c0001t0001g0167 others(2): Show a0001c0001t0001g0082 a0001c0001t0001g0164 a0001c0001t0001g0167 a0003c0005t0004g0081 a0003c0005t0004g0089	5	290	0.0172	13	c.138 others(30): Show c.1389+174_1389+186dupTTTTTTTTTTTTT	HADHB	ENSG00000138029.14	transcript	ENST00000317799.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAGH_chr16_1802629_1831825	1803541	A A	ATCTTTTT others(6): Show ATCTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0285 a0001c0001t0004g0285	1	436	0.0023	13	c.57 others(24): Show c.5741_*5742insAAAAAAAAAAAGA	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding		4087		chr16	TogoVar
HAGH_chr16_1802629_1831825	1819031	C C	CGAAGCTG others(6): Show CGAAGCTGCCCCGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0036 a0001c0001t0036	a0001c0001t0036g0271 a0001c0001t0036g0271	1	436	0.0023	13	c.541 others(26): Show c.541+71_541+83dupACGGGGCAGCTTC	HAGH	ENSG00000063854.13	transcript	ENST00000397356.8	protein_coding	5/8			chr16	TogoVar
HAL_chr12_95967662_96001344	95971936	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0010 a0001c0001t0007g0010	1	418	0.0024	13	c.22 others(24): Show c.2295_*2296insAAAAAAAAAAAAA	HAL	ENSG00000084110.11	transcript	ENST00000261208.8	protein_coding		725		chr12	TogoVar
HAP1_chr17_41717640_41739643	41729549	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18961.hp2 NA18970.hp1 NA18961.hp2 NA18970.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0049 a0002c0002t0001g0055 a0002c0002t0001g0049 a0002c0002t0001g0055	2	374	0.0054	13	c.107 others(32): Show c.1070-1231_1070-1219dupTTTTTTTTTTTTT	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	6/10			chr17	TogoVar
HAP1_chr17_41717640_41739643	41730054	A A	AGAGAGAG others(6): Show AGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0053 a0002c0002t0001g0053	1	374	0.0027	13	c.106 others(32): Show c.1069+1438_1069+1439insCTCTCTCTCTCTC	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding	6/10			chr17	TogoVar
HAP1_chr17_41717640_41739643	41737065	G G	GAGGGAGG others(6): Show GAGGGAGGAAGAGA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0232 a0003c0003t0001g0232	1	374	0.0027	13	c.-24 others(24): Show c.-2432_-2431insTCTCTTCCTCCCT	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding		2423		chr17	TogoVar
HAPLN1_chr5_83632805_83725855	83645475	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00323.hp2 HG00597.hp1 others(123): Show HG00140.hp1 HG00323.hp2 HG00597.hp1 HG00621.hp1 HG00621.hp2 HG00639.hp1 HG01070.hp1 HG01168.hp2 HG01256.hp1 HG01258.hp1 HG01261.hp1 HG01261.hp2 HG01361.hp1 HG01361.hp2 HG01433.hp1 HG01496.hp2 HG01515.hp1 HG01515.hp2 HG01517.hp1 HG01928.hp1 HG01928.hp2 HG01943.hp2 HG02015.hp1 HG02056.hp1 HG02071.hp1 HG02155.hp1 HG02155.hp2 HG02257.hp2 HG02486.hp2 HG02523.hp1 HG02523.hp2 HG02559.hp1 HG02602.hp1 HG02622.hp1 HG02622.hp2 HG02647.hp1 HG02717.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02809.hp1 HG02886.hp2 HG02965.hp1 HG02970.hp1 HG03017.hp2 HG03098.hp2 HG03130.hp2 HG03209.hp1 HG03225.hp2 HG03486.hp2 HG03490.hp1 HG03490.hp2 HG03491.hp1 HG03492.hp1 HG03579.hp2 HG03831.hp1 HG03834.hp1 HG03927.hp1 HG03942.hp1 HG04199.hp1 HG04228.hp1 HG04228.hp2 NA18747.hp1 NA18747.hp2 NA18906.hp2 NA18941.hp1 NA18944.hp1 NA18944.hp2 NA18949.hp2 NA18950.hp2 NA18957.hp2 NA18960.hp1 NA18960.hp2 NA18961.hp1 NA18964.hp1 NA18965.hp1 NA18966.hp1 NA18968.hp1 NA18969.hp1 NA18970.hp1 NA18971.hp1 NA18977.hp1 NA18980.hp1 NA18982.hp1 NA18984.hp1 NA18989.hp2 NA18990.hp1 NA18994.hp2 NA18995.hp2 NA19002.hp1 NA19002.hp2 NA19003.hp2 NA19005.hp1 NA19009.hp1 NA19030.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp1 NA19058.hp1 NA19058.hp2 NA19059.hp1 NA19059.hp2 NA19064.hp2 NA19067.hp1 NA19067.hp2 NA19068.hp1 NA19068.hp2 NA19074.hp1 NA19075.hp1 NA19076.hp1 NA19079.hp1 NA19081.hp1 NA19082.hp2 NA19084.hp1 NA19085.hp1 NA19085.hp2 NA19086.hp2 NA19087.hp1 NA19091.hp1 NA19091.hp2 NA20129.hp2 NA20752.hp1 NA20752.hp2 NA20805.hp1 NA20905.hp1 NA21309.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0001c0004 a0002c0003 others(1): Show a0001c0001 a0001c0004 a0002c0003 a0004c0007	a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 others(22): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0008 a0001c0001t0009 a0001c0001t0012 a0001c0001t0013 a0001c0001t0019 a0001c0001t0023 a0001c0001t0024 a0001c0001t0029 a0001c0001t0033 a0001c0001t0035 a0001c0001t0036 a0001c0001t0038 a0001c0001t0043 a0001c0001t0044 a0001c0001t0046 a0001c0001t0048 a0001c0001t0051 a0001c0001t0052 a0001c0004t0004 a0002c0003t0021 a0004c0007t0001	a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0029 others(122): Show a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0029 a0001c0001t0001g0035 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0051 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0076 a0001c0001t0001g0085 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0094 a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0116 a0001c0001t0001g0121 a0001c0001t0001g0126 a0001c0001t0001g0131 a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0137 a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0164 a0001c0001t0001g0167 a0001c0001t0001g0183 a0001c0001t0001g0194 a0001c0001t0001g0200 a0001c0001t0001g0201 a0001c0001t0001g0202 a0001c0001t0001g0204 a0001c0001t0001g0206 a0001c0001t0001g0209 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0216 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0225 a0001c0001t0001g0226 a0001c0001t0001g0253 a0001c0001t0001g0258 a0001c0001t0001g0266 a0001c0001t0001g0267 a0001c0001t0001g0271 a0001c0001t0001g0276 a0001c0001t0001g0285 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0294 a0001c0001t0001g0296 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0305 a0001c0001t0001g0308 a0001c0001t0001g0310 a0001c0001t0001g0318 a0001c0001t0001g0323 a0001c0001t0001g0328 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0335 a0001c0001t0001g0340 a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0351 a0001c0001t0004g0002 a0001c0001t0004g0120 a0001c0001t0004g0122 a0001c0001t0004g0160 a0001c0001t0004g0293 a0001c0001t0004g0301 a0001c0001t0004g0347 a0001c0001t0004g0348 a0001c0001t0004g0350 a0001c0001t0006g0017 a0001c0001t0006g0249 a0001c0001t0006g0250 a0001c0001t0007g0113 a0001c0001t0007g0114 a0001c0001t0007g0317 a0001c0001t0008g0027 a0001c0001t0008g0057 a0001c0001t0008g0141 a0001c0001t0008g0277 a0001c0001t0009g0012 a0001c0001t0009g0048 a0001c0001t0009g0326 a0001c0001t0012g0356 a0001c0001t0012g0359 a0001c0001t0012g0362 a0001c0001t0012g0363 a0001c0001t0013g0357 a0001c0001t0019g0130 a0001c0001t0019g0312 a0001c0001t0019g0313 a0001c0001t0023g0300 a0001c0001t0024g0055 a0001c0001t0024g0270 a0001c0001t0029g0311 a0001c0001t0033g0081 a0001c0001t0035g0192 a0001c0001t0036g0352 a0001c0001t0038g0295 a0001c0001t0043g0210 a0001c0001t0044g0135 a0001c0001t0046g0208 a0001c0001t0048g0361 a0001c0001t0051g0358 a0001c0001t0052g0367 a0001c0004t0004g0046 a0001c0004t0004g0059 a0001c0004t0004g0186 a0002c0003t0021g0005 a0002c0003t0021g0006 a0002c0003t0021g0274 a0004c0007t0001g0205	126	372	0.3387	13	c.473 others(28): Show c.473-823_473-811dupAAAAAAAAAAAAA	HAPLN1	ENSG00000145681.11	transcript	ENST00000274341.9	protein_coding	3/4			chr5	TogoVar
HAPLN1_chr5_83632805_83725855	83678220	G G	GTGTGTGT others(6): Show GTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02523.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0303 a0001c0001t0001g0303	1	372	0.0027	13	c.-26 others(30): Show c.-26-4672_-26-4671insACACACACACACA	HAPLN1	ENSG00000145681.11	transcript	ENST00000274341.9	protein_coding	1/4			chr5	TogoVar
HAPLN1_chr5_83632805_83725855	83721728	G G	GGCGCGCG others(6): Show GGCGCGCGCGGGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	372	0.0027	13	c.-96 others(22): Show c.-967_-966insGCCCCGCGCGCGC	HAPLN1	ENSG00000145681.11	transcript	ENST00000274341.9	protein_coding		874		chr5	TogoVar
HAPLN2_chr1_156614415_156630725	156616503	T T	TCCTTCTC others(6): Show TCCTTCTCTAACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18968.hp1 NA18968.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	418	0.0024	13	c.-31 others(24): Show c.-3198_-3197insCCTTCTCTAACAC	HAPLN2	ENSG00000132702.13	transcript	ENST00000255039.6	protein_coding		2911		chr1	TogoVar
HARBI1_chr11_46597861_46622227	46619372	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0072 a0001c0001t0001g0072	1	258	0.0039	13	c.-24 others(24): Show c.-2406_-2394dupAAAAAAAAAAAAA	HARBI1	ENSG00000180423.4	transcript	ENST00000326737.3	protein_coding		2146		chr11	TogoVar
HAS1_chr19_51708112_51728991	51714695	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01123.hp2 HG01243.hp2 others(29): Show HG01109.hp2 HG01123.hp2 HG01243.hp2 HG01891.hp1 HG01978.hp2 HG02055.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp1 HG02738.hp1 HG02738.hp2 HG02809.hp2 HG02818.hp2 HG02886.hp2 HG02970.hp1 HG02976.hp2 HG03139.hp2 HG03195.hp2 HG03453.hp1 HG03942.hp1 HG03942.hp2 HG04199.hp2 HG04204.hp2 NA18950.hp2 NA18965.hp2 NA18978.hp1 NA18994.hp1 NA19010.hp1 NA19043.hp2 NA20129.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(2): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0003 a0001c0002t0006 a0001c0005t0001 a0001c0005t0003 a0001c0006t0001 a0002c0004t0001	a0001c0001t0001g0205 a0001c0001t0002g0065 a0001c0001t0002g0202 others(23): Show a0001c0001t0001g0205 a0001c0001t0002g0065 a0001c0001t0002g0202 a0001c0001t0005g0040 a0001c0002t0001g0050 a0001c0002t0001g0071 a0001c0002t0001g0114 a0001c0002t0001g0186 a0001c0002t0001g0192 a0001c0002t0001g0214 a0001c0002t0001g0218 a0001c0002t0001g0219 a0001c0002t0001g0239 a0001c0002t0001g0290 a0001c0002t0001g0307 a0001c0002t0003g0195 a0001c0002t0006g0013 a0001c0002t0006g0222 a0001c0005t0001g0027 a0001c0005t0001g0067 a0001c0005t0001g0118 a0001c0005t0001g0158 a0001c0005t0003g0068 a0001c0005t0003g0139 a0001c0006t0001g0209 a0002c0004t0001g0166	32	464	0.0690	13	c.105 others(30): Show c.1059-594_1059-593insTTTTTTTTTTTTT	HAS1	ENSG00000105509.11	transcript	ENST00000540069.7	protein_coding	4/4			chr19	TogoVar
HAS2_chr8_121607116_121646440	121642845	T T	TCCCACCG others(6): Show TCCCACCGCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02717.hp2 HG02922.hp1 HG02451.hp2 HG02717.hp2 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0029 a0001c0001t0006 a0001c0001t0029	a0001c0001t0006g0054 a0001c0001t0006g0056 a0001c0001t0029g0067 a0001c0001t0006g0054 a0001c0001t0006g0056 a0001c0001t0029g0067	3	376	0.0080	13	c.-19 others(24): Show c.-1994_-1993insGGGGGGCGGTGGG	HAS2	ENSG00000170961.7	transcript	ENST00000303924.5	protein_coding		1406		chr8	TogoVar
HAS2_chr8_121607116_121646440	121642852	G G	GCCCCCCC others(6): Show GCCCCCCCCCCCCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00639.hp2 HG01071.hp1 HG02293.hp1 others(4): Show HG00639.hp2 HG01071.hp1 HG02293.hp1 HG03654.hp2 NA18952.hp1 NA18975.hp1 NA19066.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0009 a0001c0001t0022 others(3): Show a0001c0001t0003 a0001c0001t0009 a0001c0001t0022 a0001c0001t0042 a0001c0001t0065 a0001c0001t0093	a0001c0001t0003g0012 a0001c0001t0009g0148 a0001c0001t0022g0026 others(4): Show a0001c0001t0003g0012 a0001c0001t0009g0148 a0001c0001t0022g0026 a0001c0001t0022g0187 a0001c0001t0042g0224 a0001c0001t0065g0149 a0001c0001t0093g0220	7	376	0.0186	13	c.-20 others(24): Show c.-2001_-2000insGGGGGGGGGGGGG	HAS2	ENSG00000170961.7	transcript	ENST00000303924.5	protein_coding		1413		chr8	TogoVar
HASPIN_chr17_3718903_3731699	3719234	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp2 HG02257.hp2 HG02486.hp2 others(6): Show HG01884.hp2 HG02257.hp2 HG02486.hp2 HG02572.hp2 HG02647.hp1 HG02723.hp2 HG02809.hp1 HG02809.hp2 HG03516.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0000 a0003c0003t0003g0000	9	414	0.0217	13	c.-47 others(24): Show c.-4702_-4701insAAAAAAAAAAAAA	HASPIN	ENSG00000177602.5	transcript	ENST00000325418.5	protein_coding		4668		chr17	TogoVar
HAT1_chr2_171917461_171988686	171953626	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 NA19043.hp2 HG02027.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0242 a0001c0001t0001g0286 a0001c0001t0001g0242 a0001c0001t0001g0286	2	326	0.0061	13	c.309 others(28): Show c.309+642_309+654dupAAAAAAAAAAAAA	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977558	T T	TATATATA others(6): Show TATATATATATATA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0211 a0001c0001t0001g0211	1	326	0.0031	13	c.975 others(30): Show c.975+1250_975+1251insATATATATATATA	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10			chr2	TogoVar
HAUS1_chr18_46099385_46133333	46113035	A A	AATATATA others(6): Show AATATATATATTCC	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0199 a0001c0001t0002g0199	1	372	0.0027	13	c.206 others(30): Show c.206-5141_206-5129dupATATATTCCATAT	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
HAUS2_chr15_42543838_42574994	42544836	C C	CTATATAT others(6): Show CTATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG02897.hp1 NA19043.hp2 HG01981.hp1 HG02897.hp1 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0297 a0001c0002t0004g0302 a0001c0002t0004g0307 a0001c0002t0004g0297 a0001c0002t0004g0302 a0001c0002t0004g0307	3	350	0.0086	13	c.-40 others(24): Show c.-4037_-4036insTATATATATATAT	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding		4001		chr15	TogoVar
HAUS6_chr9_19048141_19107904	19092916	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19072.hp2 NA19072.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0005 a0002c0003t0005	a0002c0003t0005g0360 a0002c0003t0005g0360	1	406	0.0025	13	c.436 others(28): Show c.436+242_436+254dupTTTTTTTTTTTTT	HAUS6	ENSG00000147874.11	transcript	ENST00000380502.8	protein_coding	4/16			chr9	TogoVar
HAUS8_chr19_17044729_17080452	17048279	A A	ACTAGAAA others(6): Show ACTAGAAACAACTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19087.hp2 NA19087.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0177 a0002c0001t0001g0177	1	400	0.0025	13	c.15 others(24): Show c.1593_*1594insAAGTTGTTTCTAG	HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding		1449		chr19	TogoVar
HAUS8_chr19_17044729_17080452	17055143	A A	AAAAAAAA others(6): Show AAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA18954.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0284 a0002c0001t0001g0284	1	400	0.0025	13	c.787 others(28): Show c.787+717_787+718insATATATTTTTTTT	HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10			chr19	TogoVar
HAUS8_chr19_17044729_17080452	17055180	A A	AGTATATA others(6): Show AGTATATATACTAG	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0309 a0001c0003t0002g0309	1	400	0.0025	13	c.787 others(28): Show c.787+680_787+681insCTAGTATATATAC	HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding	9/10			chr19	TogoVar
HAVCR1_chr5_157024413_157064116	157063236	A A	AAATGAGT others(6): Show AAATGAGTACACTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0262 a0001c0001t0001g0262	1	352	0.0028	13	c.-43 others(24): Show c.-4329_-4328insAAGTGTACTCATT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding		4121		chr5	TogoVar
HAVCR2_chr5_157080832_157114044	157092878	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG02897.hp1 HG01361.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0244 a0001c0001t0001g0168 a0001c0001t0001g0244	2	380	0.0053	13	c.676 others(30): Show c.676+2415_676+2427dupTTTTTTTTTTTTT	HAVCR2	ENSG00000135077.10	transcript	ENST00000307851.9	protein_coding	5/6			chr5	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)