Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

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regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
ANGPT2_chr8_6494632_6568245	6505210	T T	TATATATA others(20): Show TATATATATATTCTTATGTATATATAGA	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19005.hp2 HG00621.hp2 NA19005.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0007 a0001c0003t0007 a0001c0002t0007 a0001c0003t0007	a0001c0002t0007g0132 a0001c0003t0007g0080 a0001c0002t0007g0132 a0001c0003t0007g0080	2	336	0.0060	27	c.132 others(46): Show c.1328-1950_1328-1949insTCTATATATACATAAGAATATATATA T	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	8/8			chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6562552	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18944.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0259 a0001c0001t0006g0259	1	336	0.0030	27	c.288 others(40): Show c.288+94_288+95insAAAAAAAAAAAAAAAAAAAAAAAAAAA	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	1/8			chr8	TogoVar
ANGPTL5_chr11_101885674_101921522	101889419	G G	GAAAGAGA others(20): Show GAAAGAGAAAGAAAGAAAAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03130.hp1 NA19030.hp2 HG03130.hp1 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0009 a0001c0001t0001 a0002c0002t0009	a0001c0001t0001g0195 a0002c0002t0009g0060 a0001c0001t0001g0195 a0002c0002t0009g0060	2	422	0.0047	27	c.18 others(38): Show c.1859_*1860insTTCTTTCTTTTTTCTTTCTTTCTCTTT	ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding		1254		chr11	TogoVar
ANK1_chr8_41648225_41802622	41703450	A A	ATATATAT others(20): Show ATATATATATATATATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG03041.hp2 HG02965.hp1 HG03041.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0020 a0001c0002 a0004c0020	a0001c0002t0009 a0004c0020t0001 a0001c0002t0009 a0004c0020t0001	a0001c0002t0009g0098 a0004c0020t0001g0034 a0001c0002t0009g0098 a0004c0020t0001g0034	2	278	0.0072	27	c.229 others(44): Show c.2295+590_2295+591insAAAAAAAAAAAAATATATATATATATA	ANK1	ENSG00000029534.22	transcript	ENST00000289734.13	protein_coding	20/42			chr8	TogoVar
ANK2_chr4_113044653_113388736	113149874	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp2 HG04115.hp1 HG04115.hp2	a0017 a0018 a0017 a0018	a0017c0029 a0018c0017 a0017c0029 a0018c0017	a0017c0029t0001 a0018c0017t0001 a0017c0029t0001 a0018c0017t0001	a0017c0029t0001g0140 a0018c0017t0001g0170 a0017c0029t0001g0140 a0018c0017t0001g0170	2	178	0.0112	27	c.85- others(44): Show c.85-24516_85-24515insAAAAAAAAAAAAAAAAAAAAAAAAAAA	ANK2	ENSG00000145362.21	transcript	ENST00000357077.9	protein_coding	1/45		INFO_REALIGN_3_PRIME	chr4	TogoVar
ANK3_chr10_60021298_60394875	60100234	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03654.hp1 NA19005.hp2 HG03654.hp1 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0033 a0001c0007t0003 a0001c0001t0033 a0001c0007t0003	a0001c0001t0033g0018 a0001c0007t0003g0056 a0001c0001t0033g0018 a0001c0007t0003g0056	2	192	0.0104	27	c.332 others(46): Show c.3328+5670_3328+5671insAAAAAAAAAAAAAAAAAAAAAAAAAA A	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	28/43			chr10	TogoVar
ANK3_chr10_60021298_60394875	60226490	C C	CATATACT others(20): Show CATATACTATAGTATATATACATAGTAT	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA19000.hp1 NA19058.hp2 NA18994.hp2 NA19000.hp1 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0039 a0001c0002t0010 a0001c0001t0001 a0001c0001t0039 a0001c0002t0010	a0001c0001t0001g0103 a0001c0001t0039g0172 a0001c0002t0010g0015 a0001c0001t0001g0103 a0001c0001t0039g0172 a0001c0002t0010g0015	3	192	0.0156	27	c.897 others(44): Show c.897+8171_897+8197dupATACTATGTATATATACTATAGTATAT	ANK3	ENSG00000151150.22	transcript	ENST00000280772.7	protein_coding	8/43			chr10	TogoVar
ANKAR_chr2_189669670_189751647	189729715	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0110 a0001c0001t0001g0110	1	296	0.0034	27	c.319 others(44): Show c.3194-779_3194-778insTGTGTGTGTGTGTGTGTGTGTGTGTGG	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	15/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189744990	T T	TCTACTAC others(20): Show TCTACTACTACTACTACTACTACTACTA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG02486.hp2 HG02622.hp1 others(12): Show HG00733.hp2 HG02486.hp2 HG02622.hp1 HG02647.hp2 HG02735.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA18948.hp1 NA18959.hp2 NA20905.hp1 NA21309.hp2	a0001 a0010 a0016 a0001 a0010 a0016	a0001c0001 a0010c0020 a0016c0012 a0001c0001 a0010c0020 a0016c0012	a0001c0001t0001 a0001c0001t0002 a0010c0020t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0010c0020t0001 a0016c0012t0001	a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0221 others(12): Show a0001c0001t0001g0076 a0001c0001t0001g0080 a0001c0001t0001g0221 a0001c0001t0001g0226 a0001c0001t0001g0241 a0001c0001t0001g0243 a0001c0001t0001g0245 a0001c0001t0001g0258 a0001c0001t0002g0203 a0001c0001t0002g0205 a0001c0001t0002g0206 a0001c0001t0002g0209 a0001c0001t0002g0213 a0010c0020t0001g0229 a0016c0012t0001g0067	15	296	0.0507	27	c.405 others(44): Show c.4057+215_4057+241dupCTACTACTACTACTACTACTACTACTA	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189745027	C C	CTACTACT others(20): Show CTACTACTACTACTAATAATAATAATAA	intron_variant intron_variant	MODIFIER	NA19066.hp1 NA19079.hp1 NA19066.hp1 NA19079.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0180 a0001c0001t0001g0175 a0001c0001t0001g0180	2	296	0.0068	27	c.405 others(44): Show c.4057+241_4057+242insCTACTACTACTAATAATAATAATAATA	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189745027	C C	CTACTACT others(20): Show CTACTACTACTACTACTAATAATAATAA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	296	0.0034	27	c.405 others(44): Show c.4057+241_4057+242insCTACTACTACTACTAATAATAATAATA	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKAR_chr2_189669670_189751647	189745027	C C	CTACTACT others(20): Show CTACTACTACTACTACTACTAATAATAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0292 a0004c0006t0001g0292	1	296	0.0034	27	c.405 others(44): Show c.4057+241_4057+242insCTACTACTACTACTACTAATAATAATA	ANKAR	ENSG00000151687.15	transcript	ENST00000684021.1	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANKDD1A_chr15_64906902_64963691	64952863	C C	CTTCCTCT others(20): Show CTTCCTCTTTTCTTCTCTTTCTTCTTCT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03195.hp1 HG02451.hp2 HG03195.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0006c0012 a0001c0001 a0006c0012	a0001c0001t0001 a0006c0012t0001 a0001c0001t0001 a0006c0012t0001	a0001c0001t0001g0243 a0006c0012t0001g0244 a0001c0001t0001g0243 a0006c0012t0001g0244	2	338	0.0059	27	c.148 others(46): Show c.1483+2893_1483+2894insCCTCTTTTCTTCTCTTTCTTCTTCTT T	ANKDD1A	ENSG00000166839.18	transcript	ENST00000319580.13	protein_coding	14/14		INFO_REALIGN_3_PRIME	chr15	TogoVar
ANKFN1_chr17_56148475_56522016	56189170	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0035 a0002c0002t0002g0035	1	112	0.0089	27	c.-70 others(46): Show c.-70-23410_-70-23409insTTTTTTTTTTTTTTTTTTTTTTTTTT T	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	1/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
ANKFN1_chr17_56148475_56522016	56467791	G G	GAAAGAAA others(20): Show GAAAGAAAGAAGAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0040 a0002c0002t0002g0040	1	112	0.0089	27	c.177 others(46): Show c.1773+1222_1773+1223insAGAAAGAAGAAGAAAGAAAGAAAGAA A	ANKFN1	ENSG00000153930.13	transcript	ENST00000682825.1	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr17	TogoVar
ANKFY1_chr17_4158821_4268979	4160262	G G	GTACCCCT others(20): Show GTACCCCTGTATCCACGACTCGGCTCCA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00140.hp1 HG00280.hp2 HG01081.hp1 others(22): Show HG00140.hp1 HG00280.hp2 HG01081.hp1 HG01168.hp2 HG01169.hp1 HG01175.hp2 HG01192.hp2 HG01255.hp1 HG01256.hp2 HG01258.hp1 HG01516.hp2 HG02109.hp2 HG02145.hp1 HG02148.hp1 HG02257.hp1 HG02257.hp2 HG02451.hp2 HG02572.hp2 HG02630.hp2 HG02809.hp2 HG02976.hp2 HG03710.hp2 NA18612.hp2 NA18906.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0010 a0001c0001 a0001c0003 a0001c0010	a0001c0001t0001 a0001c0001t0015 a0001c0001t0027 others(5): Show a0001c0001t0001 a0001c0001t0015 a0001c0001t0027 a0001c0003t0001 a0001c0003t0016 a0001c0003t0021 a0001c0003t0026 a0001c0010t0001	a0001c0001t0001g0231 a0001c0001t0001g0240 a0001c0001t0001g0252 others(22): Show a0001c0001t0001g0231 a0001c0001t0001g0240 a0001c0001t0001g0252 a0001c0001t0001g0253 a0001c0001t0015g0251 a0001c0001t0015g0254 a0001c0001t0027g0271 a0001c0003t0001g0144 a0001c0003t0001g0152 a0001c0003t0001g0193 a0001c0003t0001g0199 a0001c0003t0001g0200 a0001c0003t0001g0216 a0001c0003t0001g0219 a0001c0003t0001g0220 a0001c0003t0001g0221 a0001c0003t0001g0222 a0001c0003t0001g0223 a0001c0003t0001g0224 a0001c0003t0001g0225 a0001c0003t0016g0217 a0001c0003t0016g0218 a0001c0003t0021g0300 a0001c0003t0026g0145 a0001c0010t0001g0141	25	300	0.0833	27	c.74 others(38): Show c.7490_*7516dupTGGAGCCGAGTCGTGGATACAGGGGTA	ANKFY1	ENSG00000185722.18	transcript	ENST00000341657.9	protein_coding		3558		chr17	TogoVar
ANKLE2_chr12_132720503_132766832	132746348	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03492.hp2 HG03492.hp2	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0001 a0004c0006t0001	a0004c0006t0001g0155 a0004c0006t0001g0155	1	350	0.0029	27	c.123 others(46): Show c.1230+1483_1230+1484insTTTTTTTTTTTTTTTTTTTTTTTTTT T	ANKLE2	ENSG00000176915.15	transcript	ENST00000357997.10	protein_coding	5/12			chr12	TogoVar
ANKRD10_chr13_110873540_110920069	110892416	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01243.hp1 HG02451.hp2 others(2): Show HG00673.hp2 HG01243.hp1 HG02451.hp2 HG03139.hp1 NA18953.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0001 a0001c0006t0001 a0001c0001t0001 a0001c0006t0001	a0001c0001t0001g0073 a0001c0001t0001g0102 a0001c0001t0001g0181 others(2): Show a0001c0001t0001g0073 a0001c0001t0001g0102 a0001c0001t0001g0181 a0001c0001t0001g0183 a0001c0006t0001g0225	5	362	0.0138	27	c.691 others(42): Show c.691+611_691+612insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ANKRD10	ENSG00000088448.14	transcript	ENST00000267339.6	protein_coding	4/5			chr13	TogoVar
ANKRD11_chr16_89262630_89495561	89384879	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00280.hp2 NA18956.hp1 HG00280.hp2 NA18956.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0069 a0001c0001t0001g0040 a0001c0001t0001g0069	2	310	0.0065	27	c.-60 others(46): Show c.-60+33378_-60+33404dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD11_chr16_89262630_89495561	89415829	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG00741.hp2 HG01106.hp2 others(5): Show HG00741.hp1 HG00741.hp2 HG01106.hp2 HG01346.hp1 HG01952.hp2 NA18906.hp2 NA18977.hp1 NA19063.hp1	a0001 a0002 a0003 others(3): Show a0001 a0002 a0003 a0005 a0007 a0034	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0005c0005 a0007c0012 a0034c0023	a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 others(3): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0001 a0005c0005t0001 a0007c0012t0001 a0034c0023t0001	a0001c0001t0001g0177 a0001c0001t0001g0236 a0002c0002t0002g0222 others(5): Show a0001c0001t0001g0177 a0001c0001t0001g0236 a0002c0002t0002g0222 a0003c0003t0001g0140 a0003c0003t0001g0302 a0005c0005t0001g0142 a0007c0012t0001g0161 a0034c0023t0001g0023	8	310	0.0258	27	c.-60 others(44): Show c.-60+2454_-60+2455insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ANKRD11	ENSG00000167522.17	transcript	ENST00000301030.10	protein_coding	2/12			chr16	TogoVar
ANKRD12_chr18_9131781_9290985	9157603	A A	ATATATAT others(20): Show ATATATATATATATATATATATATGTAT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0004 a0004c0004t0004	a0004c0004t0004g0304 a0004c0004t0004g0304	1	318	0.0031	27	c.-52 others(46): Show c.-52+20639_-52+20640insATATATATATATATATATATATGTAT T	ANKRD12	ENSG00000101745.17	transcript	ENST00000262126.9	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr18	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0127 a0001c0002t0002g0127	1	292	0.0034	27	c.696 others(46): Show c.6962-1474_6962-1473insATATATATATATATATTTTTTTTTTT T	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG03831.hp1 HG00408.hp2 HG03831.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0003t0003 a0001c0002t0002 a0001c0003t0003	a0001c0002t0002g0135 a0001c0003t0003g0232 a0001c0002t0002g0135 a0001c0003t0003g0232	2	292	0.0069	27	c.696 others(46): Show c.6962-1474_6962-1473insATATATATATATATATATTTTTTTTT T	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18747.hp1 NA18953.hp1 NA18982.hp1 others(1): Show NA18747.hp1 NA18953.hp1 NA18982.hp1 NA18995.hp1	a0001 a0001	a0001c0002 a0001c0003 a0001c0002 a0001c0003	a0001c0002t0002 a0001c0002t0004 a0001c0003t0006 a0001c0002t0002 a0001c0002t0004 a0001c0003t0006	a0001c0002t0002g0101 a0001c0002t0002g0143 a0001c0002t0004g0078 others(1): Show a0001c0002t0002g0101 a0001c0002t0002g0143 a0001c0002t0004g0078 a0001c0003t0006g0265	4	292	0.0137	27	c.696 others(46): Show c.6962-1474_6962-1473insATATATATATATATATATATATTTTT T	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73086919	A A	ATATATAT others(20): Show ATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0059	1	292	0.0034	27	c.696 others(46): Show c.6962-1474_6962-1473insATATATATATATATATATATATATAT A	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	29/33			chr4	TogoVar
ANKRD17_chr4_73068376_73263798	73158152	A A	AAAGAAAG others(20): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01099.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0146 a0001c0002t0002g0146	1	292	0.0034	27	c.705 others(44): Show c.705-1987_705-1986insCTTTCTTTCTTTCTTTCTTTCTTTCTT	ANKRD17	ENSG00000132466.20	transcript	ENST00000358602.9	protein_coding	3/33			chr4	TogoVar
ANKRD22_chr10_88814896_88856844	88822544	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01074.hp1 HG03239.hp1 NA18972.hp2 others(4): Show HG01074.hp1 HG03239.hp1 NA18972.hp2 NA19062.hp1 NA19083.hp2 NA19084.hp2 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0031 a0001c0001t0060 a0001c0002t0030 a0001c0001t0031 a0001c0001t0060 a0001c0002t0030	a0001c0001t0031g0051 a0001c0001t0031g0339 a0001c0001t0060g0258 others(2): Show a0001c0001t0031g0051 a0001c0001t0031g0339 a0001c0001t0060g0258 a0001c0002t0030g0040 a0001c0002t0030g0161	7	418	0.0168	27	c.39 others(36): Show c.396_*397insAAAAAAAAAAAAAAAAAAAAAAAAAAA	ANKRD22	ENSG00000152766.6	transcript	ENST00000371930.5	protein_coding	6/6	396		chr10	TogoVar
ANKRD22_chr10_88814896_88856844	88850912	A A	AAATTATG others(20): Show AAATTATGTATAATGACATCATTACACC	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0070 a0001c0002t0007g0070	1	418	0.0024	27	c.21+ others(40): Show c.21+648_21+674dupGGTGTAATGATGTCATTATACATAATT	ANKRD22	ENSG00000152766.6	transcript	ENST00000371930.5	protein_coding	1/5			chr10	TogoVar
ANKRD24_chr19_4177689_4229814	4223402	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG03195.hp2 HG02895.hp2 HG03195.hp2	a0003 a0006 a0003 a0006	a0003c0003 a0006c0007 a0003c0003 a0006c0007	a0003c0003t0001 a0006c0007t0001 a0003c0003t0001 a0006c0007t0001	a0003c0003t0001g0028 a0006c0007t0001g0100 a0003c0003t0001g0028 a0006c0007t0001g0100	2	356	0.0056	27	c.329 others(44): Show c.3297+607_3297+608insATATATATATATATATATATATATATA	ANKRD24	ENSG00000089847.13	transcript	ENST00000318934.9	protein_coding	20/21			chr19	TogoVar
ANKRD26_chr10_26999116_27105494	27104818	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0091 a0001c0001t0001g0091	1	358	0.0028	27	c.-44 others(38): Show c.-4493_-4492insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ANKRD26	ENSG00000107890.17	transcript	ENST00000376087.5	protein_coding		4325		chr10	TogoVar
ANKRD30A_chr10_37120598_37237567	37232697	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02040.hp2 HG02040.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0104 a0007c0010t0001g0104	1	286	0.0035	27	c.41 others(36): Show c.410_*411insATATATATATATATATATATATATATA	ANKRD30A	ENSG00000148513.20	transcript	ENST00000361713.2	protein_coding		131		chr10	TogoVar
ANKRD30B_chr18_14743172_14859667	14766493	A A	AAGAAAAG others(20): Show AAGAAAAGAAAAGAAAAGAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp1 HG02630.hp2 HG02717.hp1	a0008 a0008	a0008c0010 a0008c0010	a0008c0010t0001 a0008c0010t0001	a0008c0010t0001g0261 a0008c0010t0001g0262 a0008c0010t0001g0261 a0008c0010t0001g0262	2	316	0.0063	27	c.122 others(46): Show c.1225+2404_1225+2405insGAAAAGAAAAGAAAAGAAAAGAAAAG A	ANKRD30B	ENSG00000180777.15	transcript	ENST00000690538.1	protein_coding	7/43		INFO_REALIGN_3_PRIME	chr18	TogoVar
ANKRD34B_chr5_80551755_80575280	80567621	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02004.hp1 HG02056.hp1 others(1): Show HG01346.hp2 HG02004.hp1 HG02056.hp1 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0118 others(1): Show a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0118 a0001c0001t0001g0149	4	392	0.0102	27	c.-19 others(44): Show c.-190-848_-190-847insTTTTTTTTTTTTTTTTTTTTTTTTTTT	ANKRD34B	ENSG00000189127.8	transcript	ENST00000338682.8	protein_coding	2/4			chr5	TogoVar
ANKRD42_chr11_83188712_83253971	83242567	G G	GTTTTTTT others(20): Show GTTTTTTTTTTGTTTGTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0099 a0001c0001t0002g0099	1	350	0.0029	27	c.119 others(46): Show c.1195+1643_1195+1644insGTTTGTTTGTTTTTTTTTTTTTTTTT T	ANKRD42	ENSG00000137494.14	transcript	ENST00000533342.6	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANKRD44_chr2_196981662_197315780	197076750	G G	GTGTTCTC others(20): Show GTGTTCTCATCATTTAGCTCCCCCTTAT	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18953.hp1 NA18994.hp1 HG02155.hp2 NA18953.hp1 NA18994.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0007 a0001c0002t0007	a0001c0002t0007g0011 a0001c0002t0007g0035 a0001c0002t0007g0104 a0001c0002t0007g0011 a0001c0002t0007g0035 a0001c0002t0007g0104	3	114	0.0263	27	c.165 others(46): Show c.1650+1952_1650+1953insATAAGGGGGAGCTAAATGATGAGAAC A	ANKRD44	ENSG00000065413.20	transcript	ENST00000282272.15	protein_coding	16/27			chr2	TogoVar
ANKRD55_chr5_56094680_56238330	56112511	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0278 a0001c0001t0001g0278	1	308	0.0033	27	c.966 others(42): Show c.966-730_966-729insGTTTTTTTTTTTTTTTTTTTTTTTTTT	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	9/11			chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56135356	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG00140.hp2 NA19030.hp2 HG00140.hp2 NA19030.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0002 a0001c0004 a0002c0002	a0001c0004t0003 a0002c0002t0001 a0001c0004t0003 a0002c0002t0001	a0001c0004t0003g0306 a0002c0002t0001g0142 a0001c0004t0003g0306 a0002c0002t0001g0142	2	308	0.0065	27	c.613 others(44): Show c.613-8251_613-8250insGAAAGAAAGAAAGAAAGAAAGAAAGAA	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	7/11			chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56166091	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01255.hp2 NA19010.hp2 others(3): Show HG01081.hp1 HG01255.hp2 NA19010.hp2 NA19057.hp2 NA19081.hp1 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0002c0005 a0001c0001 a0002c0002 a0002c0005	a0001c0001t0001 a0002c0002t0001 a0002c0005t0001 a0001c0001t0001 a0002c0002t0001 a0002c0005t0001	a0001c0001t0001g0141 a0001c0001t0001g0250 a0002c0002t0001g0043 others(3): Show a0001c0001t0001g0141 a0001c0001t0001g0250 a0002c0002t0001g0043 a0002c0002t0001g0209 a0002c0005t0001g0157 a0002c0005t0001g0191	6	308	0.0195	27	c.422 others(44): Show c.422+4576_422+4602dupGAAAGAAAGAAAGAAAGAAAGAAAGAA	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	5/11			chr5	TogoVar
ANKRD55_chr5_56094680_56238330	56166103	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02615.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0265 a0001c0001t0004g0265	1	308	0.0033	27	c.422 others(44): Show c.422+4564_422+4590dupGAAAGAAAGAAAGAAAGAAAGAAAGAA	ANKRD55	ENSG00000164512.18	transcript	ENST00000341048.9	protein_coding	5/11			chr5	TogoVar
ANKRD66_chr6_46741933_46764506	46744355	C C	CTCTTCCT others(20): Show CTCTTCCTCTTCCTCTTCTTTTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0019 a0001c0001t0002g0019	1	402	0.0025	27	c.-27 others(38): Show c.-2732_-2731insTCTTCCTCTTCCTCTTCTTTTTCTTCT	ANKRD66	ENSG00000230062.7	transcript	ENST00000565422.3	protein_coding		2577		chr6	TogoVar
ANKRD66_chr6_46741933_46764506	46744355	C C	CTCTTCTT others(20): Show CTCTTCTTCTTCTTCTTCTTCTTCTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	402	0.0025	27	c.-27 others(38): Show c.-2732_-2731insTCTTCTTCTTCTTCTTCTTCTTCTTCT	ANKRD66	ENSG00000230062.7	transcript	ENST00000565422.3	protein_coding		2577		chr6	TogoVar
ANKRD66_chr6_46741933_46764506	46744369	T T	TTTCTTCT others(20): Show TTTCTTCTTCTTCTTCTTCTTCTTCTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01943.hp1 HG02683.hp1 HG03540.hp1 others(1): Show HG01943.hp1 HG02683.hp1 HG03540.hp1 NA19085.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0013 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0013 a0002c0002t0001g0026	4	402	0.0100	27	c.-27 others(38): Show c.-2718_-2717insTTCTTCTTCTTCTTCTTCTTCTTCTTC	ANKRD66	ENSG00000230062.7	transcript	ENST00000565422.3	protein_coding		2563		chr6	TogoVar
ANKS1B_chr12_98738974_99989936	99702725	T T	TTGTAGAG others(20): Show TTGTAGAGGCAGAGTTTCCCTATGTTGC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0001 a0001c0001t0010g0001	1	48	0.0208	27	c.112 others(48): Show c.1129-47516_1129-47515insGCAACATAGGGAAACTCTGCCTCT ACA	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	8/26			chr12	TogoVar
ANKS1B_chr12_98738974_99989936	99850281	G G	GTCTCTCC others(20): Show GTCTCTCCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0012 a0001c0012	a0001c0012t0001 a0001c0012t0001	a0001c0012t0001g0016 a0001c0012t0001g0016	1	48	0.0208	27	c.135 others(46): Show c.135-24893_135-24892insGAGAGAGAGAGAGAGAGAGAGGAGAG A	ANKS1B	ENSG00000185046.21	transcript	ENST00000683438.2	protein_coding	1/26			chr12	TogoVar
ANO1_chr11_70073317_70194530	70095317	A A	AAGGAAGG others(20): Show AAGGAAGGAAGGAAGGAAGGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01258.hp2 HG01256.hp1 HG01258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0142 a0001c0001t0001g0143	2	302	0.0066	27	c.441 others(44): Show c.441+7234_441+7235insGGAAGGAAGGAAGGAAGGAAAGAAAGA	ANO1	ENSG00000131620.18	transcript	ENST00000355303.10	protein_coding	2/25		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO3_chr11_26327130_26668289	26586503	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02809.hp2 HG03669.hp1 HG02735.hp2 HG02809.hp2 HG03669.hp1	a0001 a0001	a0001c0003 a0001c0005 a0001c0014 a0001c0003 a0001c0005 a0001c0014	a0001c0003t0002 a0001c0005t0010 a0001c0014t0006 a0001c0003t0002 a0001c0005t0010 a0001c0014t0006	a0001c0003t0002g0057 a0001c0005t0010g0081 a0001c0014t0006g0126 a0001c0003t0002g0057 a0001c0005t0010g0081 a0001c0014t0006g0126	3	190	0.0158	27	c.144 others(48): Show c.1448-11844_1448-11843insTTTTTTTTTTTTTTTTTTTTTTTT TTT	ANO3	ENSG00000134343.14	transcript	ENST00000256737.8	protein_coding	14/26		INFO_REALIGN_3_PRIME	chr11	TogoVar
ANO6_chr12_45211095_45437349	45255818	G G	GGTTTTTT others(20): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0135 a0001c0002t0004g0135	1	234	0.0043	27	c.70+ others(44): Show c.70+39427_70+39428insGTTTTTTTTTTTTTTTTTTTTTTTTTT	ANO6	ENSG00000177119.17	transcript	ENST00000320560.13	protein_coding	1/19			chr12	TogoVar
ANO7_chr2_241183677_241230976	241206139	A A	AGCACTCC others(20): Show AGCACTCCCAGACTGACAGGCAGACGGG	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02572.hp2 HG02809.hp2 others(1): Show HG01109.hp2 HG02572.hp2 HG02809.hp2 NA19240.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0013 a0002c0002t0011 a0002c0002t0032 a0001c0001t0013 a0002c0002t0011 a0002c0002t0032	a0001c0001t0013g0294 a0002c0002t0011g0296 a0002c0002t0011g0297 others(1): Show a0001c0001t0013g0294 a0002c0002t0011g0296 a0002c0002t0011g0297 a0002c0002t0032g0295	4	396	0.0101	27	c.980 others(44): Show c.980+1185_980+1186insCACTCCCAGACTGACAGGCAGACGGGG	ANO7	ENSG00000146205.15	transcript	ENST00000674324.2	protein_coding	10/24		INFO_REALIGN_3_PRIME	chr2	TogoVar
ANO9_chr11_412938_447011	433514	G G	GCCTCAGA others(20): Show GCCTCAGAACCCTCCCCCGTCTATTCCA	intron_variant intron_variant	MODIFIER	HG00741.hp1 HG01358.hp2 HG01884.hp1 others(18): Show HG00741.hp1 HG01358.hp2 HG01884.hp1 HG02145.hp2 HG02257.hp2 HG02451.hp2 HG02486.hp1 HG02630.hp2 HG02809.hp2 HG02896.hp2 HG02897.hp2 HG03139.hp1 HG03471.hp1 HG03471.hp2 HG03490.hp1 HG03540.hp1 HG03669.hp1 HG06807.hp1 NA18522.hp1 NA18906.hp1 NA19043.hp2	a0001 a0002 a0006 a0001 a0002 a0006	a0001c0001 a0001c0006 a0002c0002 others(1): Show a0001c0001 a0001c0006 a0002c0002 a0006c0009	a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 others(4): Show a0001c0001t0001 a0001c0001t0004 a0001c0006t0003 a0001c0006t0004 a0001c0006t0006 a0002c0002t0001 a0006c0009t0001	a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0211 others(18): Show a0001c0001t0001g0204 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0238 a0001c0001t0001g0259 a0001c0001t0004g0113 a0001c0001t0004g0118 a0001c0006t0003g0011 a0001c0006t0003g0013 a0001c0006t0003g0014 a0001c0006t0004g0140 a0001c0006t0006g0012 a0001c0006t0006g0015 a0002c0002t0001g0062 a0002c0002t0001g0063 a0006c0009t0001g0209	21	286	0.0734	27	c.205 others(40): Show c.205-56_205-55insTGGAATAGACGGGGGAGGGTTCTGAGG	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	3/22			chr11	TogoVar
ANO9_chr11_412938_447011	433568	G G	GCCTCAGA others(20): Show GCCTCAGAACCCTTCCCCCTCTATTCCA	intron_variant intron_variant	MODIFIER	homoSapiens_chm13v2.hp1 homoSapiens_chm13v2.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0093 a0003c0003t0001g0093	1	286	0.0035	27	c.205 others(42): Show c.205-110_205-109insTGGAATAGAGGGGGAAGGGTTCTGAGG	ANO9	ENSG00000185101.13	transcript	ENST00000332826.7	protein_coding	3/22			chr11	TogoVar

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Search Results (Total: 7463 hits)