Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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⚠️ 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
H3-3B_chr17_75771434_75784779	75782239	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp1 NA19002.hp2 HG02818.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0002 a0001c0001t0003g0006 a0001c0001t0002g0002 a0001c0001t0003g0006	2	432	0.0046	22	c.-26 others(33): Show c.-2615_-2594dupAAAAAAAAAAAAAAAAAAAAAA	H3-3B	ENSG00000132475.10	transcript	ENST00000254810.8	protein_coding		2461		chr17	TogoVar
H3C11_chr6_27866845_27877346	27875500	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03041.hp1 HG01243.hp2 HG03041.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0000 a0001c0002t0001g0000	2	374	0.0054	22	c.-31 others(33): Show c.-3186_-3185insAAAAAAAAAAAAAAAAAAAAAA	H3C11	ENSG00000275379.2	transcript	ENST00000616365.2	protein_coding		3155		chr6	TogoVar
H3C14_chr1_149835687_149846208	149838393	A A	AACACACA others(15): Show AACACACACACACACACACACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	302	0.0033	22	c.23 others(33): Show c.2332_*2353dupGTGTGTGTGTGTGTGTGTGTGT	H3C14	ENSG00000203811.2	transcript	ENST00000369158.2	protein_coding		2293		chr1	TogoVar
H3C2_chr6_26026589_26037099	26031152	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00438.hp2 HG00621.hp2 HG00639.hp2 others(25): Show HG00438.hp2 HG00621.hp2 HG00639.hp2 HG01099.hp2 HG01123.hp2 HG01167.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp1 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02300.hp2 HG02559.hp1 HG02630.hp2 HG03195.hp2 HG03579.hp2 HG03688.hp2 HG03834.hp2 HG04199.hp2 NA18943.hp2 NA18977.hp2 NA18979.hp1 NA18986.hp2 NA19091.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0005 a0001c0001 a0001c0003 a0001c0005	a0001c0001t0001 a0001c0003t0001 a0001c0005t0001 a0001c0001t0001 a0001c0003t0001 a0001c0005t0001	a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0005t0001g0000 a0001c0001t0001g0000 a0001c0003t0001g0000 a0001c0005t0001g0000	28	396	0.0707	22	c.49 others(31): Show c.497_*498insTATATATATATATATATATATA	H3C2	ENSG00000286522.2	transcript	ENST00000621411.3	protein_coding		436		chr6	TogoVar
H3Y1_chr5_17649868_17660849	17651922	C C	CTTTCTTT others(15): Show CTTTCTTTCTTTCTTTCTTTCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 NA18522.hp1 NA18522.hp2 HG02970.hp1 NA18522.hp1 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0000 a0001c0002t0002g0000	3	376	0.0080	22	c.32 others(33): Show c.3205_*3206insAAGAAAGAAAGAAAGAAAGAAA	H3Y1	ENSG00000269466.4	transcript	ENST00000598383.3	protein_coding		2945		chr5	TogoVar
H3Y2_chr5_17485967_17497076	17493385	C C	CATATATA others(15): Show CATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00621.hp1 HG01109.hp1 HG01167.hp2 others(23): Show HG00621.hp1 HG01109.hp1 HG01167.hp2 HG01515.hp2 HG01517.hp1 HG01943.hp2 HG01981.hp1 HG02523.hp2 HG02895.hp2 HG03704.hp1 HG03927.hp1 NA18747.hp1 NA18944.hp2 NA18948.hp2 NA18952.hp1 NA18962.hp2 NA18975.hp1 NA18979.hp2 NA18986.hp1 NA18990.hp2 NA18991.hp2 NA19059.hp1 NA19083.hp1 NA19084.hp1 NA20752.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	26	400	0.0650	22	c.-16 others(33): Show c.-1618_-1617insATATATATATATATATATATAT	H3Y2	ENSG00000268799.4	transcript	ENST00000600799.3	protein_coding		1310		chr5	TogoVar
H4C12_chr6_27826174_27836560	27832868	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03130.hp1 NA18950.hp1 NA18952.hp1 HG03130.hp1 NA18950.hp1 NA18952.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	3	419	0.0072	22	c.-13 others(33): Show c.-1342_-1341insAAAAAAAAAAAAAAAAAAAAAA	H4C12	ENSG00000273542.2	transcript	ENST00000611927.2	protein_coding		1309		chr6	TogoVar
H4C13_chr6_27868148_27878534	27875500	A A	ATTTTTTT others(15): Show ATTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp2 HG03041.hp2 HG01243.hp2 HG03041.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	2	384	0.0052	22	c.-19 others(33): Show c.-1991_-1990insAAAAAAAAAAAAAAAAAAAAAA	H4C13	ENSG00000275126.2	transcript	ENST00000618305.2	protein_coding		1967		chr6	TogoVar
H4C14_chr1_149827657_149838052	149827861	T T	TTCTTTCT others(15): Show TTCTTTCTTTCTTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	236	0.0042	22	c.-48 others(33): Show c.-4824_-4823insTCTTTCTTTCTTTCTTTCTTTC	H4C14	ENSG00000270882.3	transcript	ENST00000578186.3	protein_coding		4795		chr1	TogoVar
H4C14_chr1_149827657_149838052	149827865	T T	TTTCTTTC others(15): Show TTTCTTTCTTTCTTTCTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00140.hp2 HG00621.hp1 HG01106.hp1 others(28): Show HG00140.hp2 HG00621.hp1 HG01106.hp1 HG01106.hp2 HG01167.hp2 HG01169.hp1 HG01169.hp2 HG01192.hp2 HG01255.hp2 HG01258.hp2 HG01361.hp1 HG01975.hp1 HG02129.hp1 HG02132.hp1 HG03669.hp2 HG04115.hp1 HG04115.hp2 NA18612.hp1 NA18945.hp2 NA18948.hp1 NA18948.hp2 NA18969.hp1 NA18983.hp1 NA18984.hp2 NA19009.hp1 NA19009.hp2 NA19074.hp2 NA19079.hp1 NA19079.hp2 NA19090.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0001g0000 a0001c0001t0004g0000	31	236	0.1314	22	c.-48 others(33): Show c.-4820_-4819insTTCTTTCTTTCTTTCTTCTTTC	H4C14	ENSG00000270882.3	transcript	ENST00000578186.3	protein_coding		4791		chr1	TogoVar
H4C2_chr6_26021896_26032283	26031152	G G	GTATATAT others(15): Show GTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp1 HG00621.hp2 HG00639.hp1 others(25): Show HG00438.hp1 HG00621.hp2 HG00639.hp1 HG01099.hp1 HG01123.hp1 HG01167.hp2 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG02040.hp2 HG02056.hp2 HG02071.hp1 HG02071.hp2 HG02109.hp2 HG02300.hp2 HG02559.hp1 HG02630.hp1 HG03195.hp2 HG03579.hp1 HG03688.hp2 HG03834.hp1 HG04199.hp2 NA18972.hp1 NA18977.hp1 NA18979.hp1 NA18986.hp2 NA19091.hp2 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0002t0002 a0001c0002t0004 a0001c0003t0001	a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0002t0002g0000 others(2): Show a0001c0001t0001g0000 a0001c0001t0003g0000 a0001c0002t0002g0000 a0001c0002t0004g0000 a0001c0003t0001g0000	28	400	0.0700	22	c.-39 others(33): Show c.-3901_-3900insTATATATATATATATATATATA	H4C2	ENSG00000278705.3	transcript	ENST00000377745.5	protein_coding		3870		chr6	TogoVar
H4C5_chr6_26199610_26210021	26208098	G G	GACACACA others(15): Show GACACACACACACACACAGACAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	408	0.0025	22	c.31 others(33): Show c.3142_*3143insACACACACACACACACAGACAC	H4C5	ENSG00000276966.3	transcript	ENST00000615164.3	protein_coding		3078		chr6	TogoVar
HACD2_chr3_123486554_123590053	123534798	T T	TTGTGTGT others(15): Show TTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00642.hp2 HG00735.hp1 others(5): Show HG00099.hp1 HG00642.hp2 HG00735.hp1 HG01255.hp2 HG01261.hp2 HG01346.hp1 HG02129.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0013 a0001c0003t0007 a0001c0001t0013 a0001c0003t0007	a0001c0001t0013g0116 a0001c0003t0007g0305 a0001c0003t0007g0306 others(5): Show a0001c0001t0013g0116 a0001c0003t0007g0305 a0001c0003t0007g0306 a0001c0003t0007g0307 a0001c0003t0007g0308 a0001c0003t0007g0310 a0001c0003t0007g0311 a0001c0003t0007g0312	8	350	0.0229	22	c.293 others(39): Show c.293-6325_293-6324insCACACACACACACACACACACA	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	3/6			chr3	TogoVar
HACD2_chr3_123486554_123590053	123569491	A A	AGCTGGGA others(15): Show AGCTGGGACTACAGGCAATTGCC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0218 a0001c0001t0006g0218	1	350	0.0029	22	c.274 others(39): Show c.274-1733_274-1712dupGGCAATTGCCTGTAGTCCCAGC	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	2/6			chr3	TogoVar
HACD2_chr3_123486554_123590053	123570917	T T	TACACACA others(15): Show TACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG02071.hp1 HG02559.hp2 others(13): Show HG01943.hp1 HG02071.hp1 HG02559.hp2 NA18945.hp1 NA18957.hp2 NA18971.hp2 NA18973.hp1 NA18978.hp2 NA18979.hp2 NA18998.hp1 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19062.hp2 NA19066.hp2 NA19074.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0030 a0001c0003t0003 a0001c0001t0030 a0001c0003t0003	a0001c0001t0030g0252 a0001c0003t0003g0007 a0001c0003t0003g0253 others(12): Show a0001c0001t0030g0252 a0001c0003t0003g0007 a0001c0003t0003g0253 a0001c0003t0003g0279 a0001c0003t0003g0280 a0001c0003t0003g0281 a0001c0003t0003g0282 a0001c0003t0003g0283 a0001c0003t0003g0284 a0001c0003t0003g0285 a0001c0003t0003g0286 a0001c0003t0003g0287 a0001c0003t0003g0288 a0001c0003t0003g0289 a0001c0003t0003g0295	16	350	0.0457	22	c.274 others(39): Show c.274-3159_274-3138dupGTGTGTGTGTGTGTGTGTGTGT	HACD2	ENSG00000206527.10	transcript	ENST00000383657.10	protein_coding	2/6			chr3	TogoVar
HACE1_chr6_104723094_104864919	104811238	T T	TTATACAT others(15): Show TTATACATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG02004.hp1 HG03704.hp2 others(2): Show HG00408.hp1 HG02004.hp1 HG03704.hp2 NA18939.hp2 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0171 a0001c0001t0001g0198 a0001c0001t0001g0217 others(2): Show a0001c0001t0001g0171 a0001c0001t0001g0198 a0001c0001t0001g0217 a0001c0001t0001g0224 a0001c0001t0001g0227	5	346	0.0145	22	c.617 others(35): Show c.617+72_617+73insTATATATATATATATATGTATA	HACE1	ENSG00000085382.12	transcript	ENST00000262903.9	protein_coding	7/23			chr6	TogoVar
HADHB_chr2_26239939_26295465	26273244	C C	CAAACTAA others(15): Show CAAACTAAAATTTAACATAAAAA	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02897.hp1 HG02717.hp1 HG02897.hp1	a0001 a0005 a0001 a0005	a0001c0001 a0005c0006 a0001c0001 a0005c0006	a0001c0001t0001 a0005c0006t0001 a0001c0001t0001 a0005c0006t0001	a0001c0001t0001g0242 a0005c0006t0001g0243 a0001c0001t0001g0242 a0005c0006t0001g0243	2	290	0.0069	22	c.255 others(37): Show c.255-406_255-405insAACTAAAATTTAACATAAAAAA	HADHB	ENSG00000138029.14	transcript	ENST00000317799.10	protein_coding	5/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
HADHB_chr2_26239939_26295465	26285739	G G	GTTTTTTT others(15): Show GTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG03130.hp2 HG03831.hp1 HG02280.hp1 HG03130.hp2 HG03831.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0129 a0001c0001t0001g0161 a0001c0001t0001g0075 a0001c0001t0001g0129 a0001c0001t0001g0161	3	290	0.0103	22	c.138 others(39): Show c.1389+186_1389+187insTTTTTTTTTTTTTTTTTTTTTT	HADHB	ENSG00000138029.14	transcript	ENST00000317799.10	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAO1_chr20_7877985_7945458	7909360	C C	CATATATA others(15): Show CATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0330 a0001c0001t0001g0330	1	348	0.0029	22	c.546 others(39): Show c.546-3032_546-3031insATATATATATATATATATATAT	HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	3/7			chr20	TogoVar
HAO1_chr20_7877985_7945458	7909381	A A	ATATATAT others(15): Show ATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	NA18970.hp1 NA18973.hp1 NA19062.hp2 others(1): Show NA18970.hp1 NA18973.hp1 NA19062.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0147 a0001c0001t0002g0007 a0001c0001t0002g0150 a0001c0001t0001g0147 a0001c0001t0002g0007 a0001c0001t0002g0150	4	348	0.0115	22	c.546 others(39): Show c.546-3053_546-3052insCATATATATATATATATATATA	HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	3/7			chr20	TogoVar
HAO1_chr20_7877985_7945458	7936503	C C	CGTGTGTG others(15): Show CGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01516.hp1 HG01928.hp1 others(15): Show HG01123.hp2 HG01516.hp1 HG01928.hp1 HG01978.hp2 HG02451.hp2 HG02523.hp2 HG02647.hp1 HG02738.hp1 HG03516.hp2 NA18522.hp2 NA18946.hp1 NA18968.hp2 NA18982.hp1 NA18985.hp2 NA19011.hp1 NA19079.hp1 NA19087.hp1 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0064 a0001c0001t0001g0211 a0001c0001t0001g0233 others(15): Show a0001c0001t0001g0064 a0001c0001t0001g0211 a0001c0001t0001g0233 a0001c0001t0001g0234 a0001c0001t0001g0235 a0001c0001t0001g0236 a0001c0001t0001g0238 a0001c0001t0001g0242 a0001c0001t0001g0244 a0001c0001t0001g0245 a0001c0001t0001g0316 a0001c0001t0001g0321 a0001c0001t0002g0237 a0001c0001t0002g0239 a0001c0001t0002g0240 a0001c0001t0002g0241 a0001c0001t0002g0246 a0001c0001t0003g0243	18	348	0.0517	22	c.138 others(39): Show c.138-1890_138-1869dupACACACACACACACACACACAC	HAO1	ENSG00000101323.5	transcript	ENST00000378789.4	protein_coding	1/7			chr20	TogoVar
HAO2_chr1_119363785_119399130	119365061	T T	TCACACAC others(15): Show TCACACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03041.hp1 NA19043.hp2 HG03041.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0001g0168 a0001c0001t0001g0172	2	428	0.0047	22	c.-38 others(33): Show c.-3850_-3849insCACACACACACACACACACACA	HAO2	ENSG00000116882.15	transcript	ENST00000325945.4	protein_coding		3723		chr1	TogoVar
HAP1_chr17_41717640_41739643	41719007	C C	CTTGCTCT others(15): Show CTTGCTCTGTCACCCAGGCTGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18955.hp1 NA18955.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0002 a0008c0007t0002	a0008c0007t0002g0344 a0008c0007t0002g0344	1	374	0.0027	22	c.56 others(33): Show c.5672_*5693dupTCCAGCCTGGGTGACAGAGCAA	HAP1	ENSG00000173805.16	transcript	ENST00000347901.9	protein_coding		3632		chr17	TogoVar
HAPLN1_chr5_83632805_83725855	83661208	A A	ATATCTAT others(15): Show ATATCTATATCTATATCTATATC	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG01081.hp1 HG03669.hp2 HG00140.hp2 HG01081.hp1 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0071 a0001c0001t0016g0072 a0001c0001t0016g0093 a0001c0001t0016g0071 a0001c0001t0016g0072 a0001c0001t0016g0093	3	372	0.0081	22	c.101 others(39): Show c.101-8385_101-8384insGATATAGATATAGATATAGATA	HAPLN1	ENSG00000145681.11	transcript	ENST00000274341.9	protein_coding	2/4			chr5	TogoVar
HAPLN1_chr5_83632805_83725855	83721737	G G	GGGCGCGC others(15): Show GGGCGCGCGCGCACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18941.hp1 NA18941.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0052 a0001c0001t0052	a0001c0001t0052g0367 a0001c0001t0052g0367	1	372	0.0027	22	c.-97 others(31): Show c.-976_-975insTGTGTGTGTGTGCGCGCGCGCC	HAPLN1	ENSG00000145681.11	transcript	ENST00000274341.9	protein_coding		883		chr5	TogoVar
HAPLN2_chr1_156614415_156630725	156623033	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18969.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0088 a0001c0001t0001g0088	1	418	0.0024	22	c.-24 others(37): Show c.-24-427_-24-426insAAAAAAAAAAAAAAAAAAAAAA	HAPLN2	ENSG00000132702.13	transcript	ENST00000255039.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr1	TogoVar
HAPLN2_chr1_156614415_156630725	156623048	A A	AAAAAAAA others(15): Show AAAAAAAAAGAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0099	1	418	0.0024	22	c.-24 others(37): Show c.-24-419_-24-418insAAAAAAAAGAAAAAAAAAAAAC	HAPLN2	ENSG00000132702.13	transcript	ENST00000255039.6	protein_coding	2/6			chr1	TogoVar
HAPSTR1_chr16_9086644_9126635	9088603	C C	CAAAAAAA others(15): Show CAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01070.hp1 HG01123.hp1 HG01952.hp1 others(17): Show HG01070.hp1 HG01123.hp1 HG01952.hp1 HG02027.hp1 HG02717.hp2 HG02735.hp2 NA18747.hp2 NA18946.hp2 NA18948.hp1 NA18968.hp2 NA18972.hp1 NA18979.hp1 NA18989.hp1 NA18993.hp1 NA19057.hp2 NA19060.hp1 NA19063.hp2 NA19074.hp1 NA19081.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(5): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0019 a0001c0001t0045 a0001c0001t0052 a0001c0001t0056 a0001c0001t0067	a0001c0001t0001g0168 a0001c0001t0003g0003 a0001c0001t0003g0021 others(12): Show a0001c0001t0001g0168 a0001c0001t0003g0003 a0001c0001t0003g0021 a0001c0001t0003g0037 a0001c0001t0003g0038 a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0176 a0001c0001t0005g0001 a0001c0001t0005g0208 a0001c0001t0019g0021 a0001c0001t0045g0003 a0001c0001t0052g0114 a0001c0001t0056g0129 a0001c0001t0067g0210	20	398	0.0503	22	c.-34 others(33): Show c.-3442_-3441insAAAAAAAAAAAAAAAAAAAAAA	HAPSTR1	ENSG00000182831.12	transcript	ENST00000327827.12	protein_coding		3040		chr16	TogoVar
HAS1_chr19_51708112_51728991	51723884	T T	TACACACA others(15): Show TACACACAAACACACACACACAC	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0311 a0001c0003t0003g0311	1	464	0.0022	22	c.9+4 others(31): Show c.9+40_9+41insGTGTGTGTGTGTGTTTGTGTGT	HAS1	ENSG00000105509.11	transcript	ENST00000540069.7	protein_coding	1/4			chr19	TogoVar
HAT1_chr2_171917461_171988686	171938024	T T	TTCTCTCT others(15): Show TTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA19007.hp1 NA18985.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0093 a0001c0001t0001g0094	2	326	0.0061	22	c.113 others(39): Show c.113-8654_113-8633dupCTCTCTCTCTCTCTCTCTCTCT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	2/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171953626	T T	TAAAAAAA others(15): Show TAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0266 a0001c0001t0001g0266	1	326	0.0031	22	c.309 others(37): Show c.309+633_309+654dupAAAAAAAAAAAAAAAAAAAAAA	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	4/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977557	A A	ATATATAT others(15): Show ATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA18963.hp1 NA18986.hp2 NA19070.hp1 NA18963.hp1 NA18986.hp2 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0174 a0001c0001t0001g0203 a0001c0001t0001g0132 a0001c0001t0001g0174 a0001c0001t0001g0203	3	326	0.0092	22	c.975 others(39): Show c.975+1250_975+1251insATATATATATATATATATATTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977557	A A	ATATATAT others(15): Show ATATATATATATATATTATTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	326	0.0031	22	c.975 others(39): Show c.975+1250_975+1251insATATATATATATATTATTTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977557	A A	ATATATAT others(15): Show ATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp2 NA18943.hp1 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0182 a0001c0001t0001g0087 a0001c0001t0001g0182	2	326	0.0061	22	c.975 others(39): Show c.975+1250_975+1251insATATATATATATATTTTTTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAT1_chr2_171917461_171988686	171977557	A A	ATATATAT others(15): Show ATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA19081.hp2 NA18990.hp2 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0148 a0001c0001t0001g0186 a0001c0001t0001g0148 a0001c0001t0001g0186	2	326	0.0061	22	c.975 others(39): Show c.975+1250_975+1251insATATATATATATTTTTTTTTTT	HAT1	ENSG00000128708.13	transcript	ENST00000264108.5	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr2	TogoVar
HAUS1_chr18_46099385_46133333	46113037	T T	TATATATA others(15): Show TATATATATTCCATATATATGGA	intron_variant intron_variant	MODIFIER	HG02004.hp2 HG02129.hp2 HG02132.hp2 others(6): Show HG02004.hp2 HG02129.hp2 HG02132.hp2 NA18947.hp2 NA18972.hp2 NA18975.hp1 NA18990.hp2 NA19057.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0059 a0001c0001t0001g0060 others(2): Show a0001c0001t0001g0003 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063	9	372	0.0242	22	c.206 others(39): Show c.206-5129_206-5128insATATGGAATATATATTCCATAT	HAUS1	ENSG00000152240.13	transcript	ENST00000282058.11	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr18	TogoVar
HAUS2_chr15_42543838_42574994	42544842	C C	CTATATAT others(15): Show CTATATATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG02258.hp1 HG02886.hp2 HG02145.hp1 HG02258.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0030 a0001c0001t0019 a0001c0001t0030	a0001c0001t0019g0026 a0001c0001t0019g0038 a0001c0001t0030g0037 a0001c0001t0019g0026 a0001c0001t0019g0038 a0001c0001t0030g0037	3	350	0.0086	22	c.-40 others(33): Show c.-4031_-4030insTATATATATATATATATATATA	HAUS2	ENSG00000137814.12	transcript	ENST00000260372.8	protein_coding		3995		chr15	TogoVar
HAUS8_chr19_17044729_17080452	17075751	C C	CGGGGGTG others(15): Show CGGGGGTGGGGGGTGGGGCGGGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0023 a0001c0002t0004g0023	1	400	0.0025	22	c.-33 others(31): Show c.-330_-329insCCCCGCCCCACCCCCCACCCCC	HAUS8	ENSG00000131351.15	transcript	ENST00000253669.10	protein_coding		300		chr19	TogoVar
HAVCR1_chr5_157024413_157064116	157044586	G G	GGAAAGAA others(15): Show GGAAAGAAAGAAAGAAAGAGAAA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG02976.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0206 a0002c0002t0001g0206	1	352	0.0028	22	c.782 others(39): Show c.782-1905_782-1904insTTTCTCTTTCTTTCTTTCTTTC	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAVCR1_chr5_157024413_157064116	157044615	G G	GAGAAAGA others(15): Show GAGAAAGAAAGAAAGAAAGAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG03490.hp2 HG03492.hp1 HG01891.hp1 HG03490.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0163 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0163	3	352	0.0085	22	c.782 others(39): Show c.782-1934_782-1933insTTTTCTTTCTTTCTTTCTTTCT	HAVCR1	ENSG00000113249.14	transcript	ENST00000523175.6	protein_coding	5/8			chr5	TogoVar
HAX1_chr1_154267629_154280875	154277309	A A	AATATATA others(15): Show AATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01978.hp1 HG02630.hp1 HG03017.hp2 HG01978.hp1 HG02630.hp1 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	3	392	0.0077	22	c.16 others(33): Show c.1608_*1609insATATATATATATATATATATAT	HAX1	ENSG00000143575.16	transcript	ENST00000328703.12	protein_coding		1435		chr1	TogoVar
HBA1_chr16_171680_182522	181982	C C	CCACACAC others(15): Show CCACACACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp1 HG00408.hp2 HG00733.hp2 others(36): Show HG00408.hp1 HG00408.hp2 HG00733.hp2 HG01099.hp2 HG01106.hp1 HG01243.hp2 HG02015.hp1 HG02071.hp1 HG02071.hp2 HG02257.hp2 HG02647.hp1 HG02683.hp1 HG02723.hp2 HG02886.hp2 HG02896.hp1 HG02897.hp2 HG03041.hp2 HG03098.hp2 HG03139.hp1 HG03540.hp1 HG03540.hp2 HG03654.hp2 HG04184.hp1 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18950.hp1 NA18953.hp2 NA18964.hp2 NA18968.hp2 NA18970.hp1 NA18979.hp2 NA18980.hp1 NA18990.hp2 NA19006.hp1 NA19060.hp1 NA19066.hp2 NA19068.hp1 NA19078.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(1): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0006	39	398	0.0980	22	c.45 others(33): Show c.4571_*4572insCACACACACACACACACACACA	HBA1	ENSG00000206172.8	transcript	ENST00000320868.9	protein_coding		4461		chr16	TogoVar
HBG1_chr11_5243269_5254857	5253698	G G	GCGCACAC others(15): Show GCGCACACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp2 HG03927.hp1 others(3): Show HG02698.hp1 HG02698.hp2 HG03927.hp1 NA18974.hp1 NA19074.hp1 NA19081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0002g0002 a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0002g0002	6	433	0.0139	22	c.-38 others(33): Show c.-3895_-3894insTGTGTGTGTGTGTGTGTGTGCG	HBG1	ENSG00000213934.9	transcript	ENST00000330597.5	protein_coding		3842		chr11	TogoVar
HBG1_chr11_5243269_5254857	5253698	G G	GCGCGCAC others(15): Show GCGCGCACACACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	433	0.0023	22	c.-38 others(33): Show c.-3895_-3894insTGTGTGTGTGTGTGTGTGCGCG	HBG1	ENSG00000213934.9	transcript	ENST00000330597.5	protein_coding		3842		chr11	TogoVar
HBG2_chr11_5248188_5259781	5253698	G G	GCGCACAC others(15): Show GCGCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp2 HG03927.hp1 others(3): Show HG02698.hp1 HG02698.hp2 HG03927.hp1 NA18974.hp1 NA19074.hp2 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	6	430	0.0140	22	c.316 others(37): Show c.316-294_316-293insTGTGTGTGTGTGTGTGTGTGCG	HBG2	ENSG00000196565.15	transcript	ENST00000336906.6	protein_coding	2/2			chr11	TogoVar
HBG2_chr11_5248188_5259781	5253698	G G	GCGCGCAC others(15): Show GCGCGCACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03669.hp2 HG03669.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	430	0.0023	22	c.316 others(37): Show c.316-294_316-293insTGTGTGTGTGTGTGTGTGCGCG	HBG2	ENSG00000196565.15	transcript	ENST00000336906.6	protein_coding	2/2			chr11	TogoVar
HBM_chr16_160978_171764	164692	C C	CGGGGCGC others(15): Show CGGGGCGCGGTGCGGGCGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19077.hp2 NA19077.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	22	c.-13 others(33): Show c.-1306_-1305insGGGGCGCGGTGCGGGCGGGGCG	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1285		chr16	TogoVar
HBM_chr16_160978_171764	164718	C C	CGCGGTGC others(15): Show CGCGGTGCGGGCGGGGCGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 NA18993.hp1 NA19003.hp1 HG01109.hp1 NA18993.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0002 a0001c0001t0002g0001 a0001c0001t0001g0002 a0001c0001t0002g0001	3	370	0.0081	22	c.-12 others(33): Show c.-1280_-1279insGCGGTGCGGGCGGGGCGGGGCG	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1259		chr16	TogoVar
HBM_chr16_160978_171764	164733	G G	GGGCGGGG others(15): Show GGGCGGGGCCGCGGGGCGGGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02165.hp1 HG02165.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	22	c.-12 others(33): Show c.-1265_-1264insGGCGGGGCCGCGGGGCGGGGTC	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1244		chr16	TogoVar
HBM_chr16_160978_171764	164764	G G	GGTCGCGG others(15): Show GGTCGCGGGGCGGGGCGGGGGTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	370	0.0027	22	c.-12 others(33): Show c.-1234_-1233insGTCGCGGGGCGGGGCGGGGGTC	HBM	ENSG00000206177.7	transcript	ENST00000356815.4	protein_coding		1213		chr16	TogoVar

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Search Results (Total: 10000 hits)