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.

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
ASRGL1_chr11_62332448_62398412	62383602	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp1 HG01123.hp2 others(1): Show HG01069.hp2 HG01071.hp1 HG01123.hp2 NA18979.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0124 a0001c0001t0003g0154 a0001c0001t0003g0155 others(1): Show a0001c0001t0003g0124 a0001c0001t0003g0154 a0001c0001t0003g0155 a0001c0001t0003g0168	4	370	0.0108	23	c.492 others(40): Show c.492-5527_492-5505dupAAAAAAAAAAAAAAAAAAAAAAA	ASRGL1	ENSG00000162174.12	transcript	ENST00000415229.6	protein_coding	4/6		INFO_REALIGN_3_PRIME	chr11	TogoVar
ASTN1_chr1_176856067_177169712	176922556	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0036 a0001c0003t0002g0036	1	112	0.0089	23	c.267 others(44): Show c.2671+11573_2671+11595dupTTTTTTTTTTTTTTTTTTTTTTT	ASTN1	ENSG00000152092.16	transcript	ENST00000361833.7	protein_coding	16/22			chr1	TogoVar
ASTN2_chr9_116418112_117420057	116572560	C C	CTTAAGCA others(16): Show CTTAAGCAGATGGTGAGGAAGGCT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG01099.hp1	a0001 a0001	a0001c0017 a0001c0017	a0001c0017t0002 a0001c0017t0002	a0001c0017t0002g0089 a0001c0017t0002g0089	1	102	0.0098	23	c.335 others(44): Show c.3355+45741_3355+45763dupAGCCTTCCTCACCATCTGCTTAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	19/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116933979	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp2 NA19030.hp2 HG03139.hp2 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0007 a0001c0001t0006 a0001c0001t0007	a0001c0001t0006g0079 a0001c0001t0007g0078 a0001c0001t0006g0079 a0001c0001t0007g0078	2	102	0.0196	23	c.188 others(44): Show c.1889+41206_1889+41228dupAAAAAAAAAAAAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	116946936	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02615.hp1 HG01109.hp1 HG02615.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0007 a0001c0003t0001 a0001c0003t0007	a0001c0003t0001g0055 a0001c0003t0007g0071 a0001c0003t0001g0055 a0001c0003t0007g0071	2	102	0.0196	23	c.188 others(44): Show c.1889+28271_1889+28272insTTTTTTTTTTTTTTTTTTTTTTT	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	10/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117048963	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0005 a0001c0005t0005	a0001c0005t0005g0007 a0001c0005t0005g0007	1	102	0.0098	23	c.127 others(42): Show c.1277-8999_1277-8998insAAAAAAAAAAAAAAAAAAAAAAA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	5/22			chr9	TogoVar
ASTN2_chr9_116418112_117420057	117116033	A A	ATGCATAT others(16): Show ATGCATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0016 a0001c0001t0006g0016	1	102	0.0098	23	c.116 others(44): Show c.1169-19883_1169-19882insATATATATATATATATATATGCA	ASTN2	ENSG00000148219.18	transcript	ENST00000313400.9	protein_coding	4/22			chr9	TogoVar
ASXL1_chr20_32353331_32444319	32397692	C C	CCAAGCCA others(16): Show CCAAGCCATGTGTTTCTTAAAACA	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0176 a0001c0001t0016g0176	1	282	0.0036	23	c.252 others(42): Show c.252+28576_252+28577insTGTGTTTCTTAAAACACAAGCCA	ASXL1	ENSG00000171456.22	transcript	ENST00000375687.10	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr20	TogoVar
ASXL3_chr18_33573219_33756195	33676222	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0098 a0001c0001t0001g0098	1	220	0.0046	23	c.715 others(40): Show c.715+4359_715+4381dupAAAAAAAAAAAAAAAAAAAAAAA	ASXL3	ENSG00000141431.14	transcript	ENST00000269197.12	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
ASZ1_chr7_117358222_117432493	117372838	C C	CTTTTATA others(16): Show CTTTTATATTGTGCCTTTTATAAT	intron_variant intron_variant	MODIFIER	NA18948.hp2 NA18948.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0223 a0001c0001t0001g0223	1	306	0.0033	23	c.105 others(42): Show c.1056-4144_1056-4122dupATTATAAAAGGCACAATATAAAA	ASZ1	ENSG00000154438.8	transcript	ENST00000284629.7	protein_coding	10/12			chr7	TogoVar
ATAD2B_chr2_23743664_23932123	23745400	G G	GGAGATGG others(16): Show GGAGATGGAGGATGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0229 a0001c0002t0003g0229	1	246	0.0041	23	c.66 others(34): Show c.6645_*6646insTCCTTCCTTCCATCCTCCATCTC	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3263		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23745422	A A	AAGGAAGG others(16): Show AAGGAAGGAAGGAAGGAAGGAAGG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19083.hp2 NA19083.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0213 a0001c0001t0001g0213	1	246	0.0041	23	c.66 others(34): Show c.6623_*6624insCCTTCCTTCCTTCCTTCCTTCCT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding		3241		chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878010	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0069 a0001c0001t0002g0069	1	246	0.0041	23	c.902 others(40): Show c.902-2107_902-2106insTTTTTTTTTTTTTTTTTTTTTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27			chr2	TogoVar
ATAD2B_chr2_23743664_23932123	23878025	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG01106.hp2 HG00280.hp2 HG01106.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0007 a0001c0001 a0004c0007	a0001c0001t0002 a0004c0007t0002 a0001c0001t0002 a0004c0007t0002	a0001c0001t0002g0080 a0004c0007t0002g0050 a0001c0001t0002g0080 a0004c0007t0002g0050	2	246	0.0081	23	c.902 others(40): Show c.902-2122_902-2121insCTTTTTTTTTTTTTTTTTTTTTT	ATAD2B	ENSG00000119778.15	transcript	ENST00000238789.10	protein_coding	7/27			chr2	TogoVar
ATAD2_chr8_123314850_123401447	123377091	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00741.hp2 HG01952.hp1 others(10): Show HG00642.hp1 HG00741.hp2 HG01952.hp1 HG02132.hp1 HG02293.hp1 HG02922.hp1 HG03098.hp1 HG03195.hp2 HG04115.hp1 NA18522.hp2 NA18747.hp2 NA18994.hp1 NA20905.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0004 a0001c0001 a0002c0004	a0001c0001t0001 a0001c0001t0002 a0002c0004t0003 a0001c0001t0001 a0001c0001t0002 a0002c0004t0003	a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0002g0027 others(9): Show a0001c0001t0001g0001 a0001c0001t0001g0041 a0001c0001t0002g0027 a0001c0001t0002g0031 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0038 a0001c0001t0002g0042 a0001c0001t0002g0082 a0001c0001t0002g0090 a0001c0001t0002g0153 a0002c0004t0003g0004	13	278	0.0468	23	c.320 others(40): Show c.320+3437_320+3438insTTTTTTTTTTTTTTTTTTTTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27			chr8	TogoVar
ATAD2_chr8_123314850_123401447	123378701	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0003 a0003	a0003c0002 a0003c0002	a0003c0002t0010 a0003c0002t0010	a0003c0002t0010g0125 a0003c0002t0010g0125	1	278	0.0036	23	c.320 others(40): Show c.320+1805_320+1827dupTTTTTTTTTTTTTTTTTTTTTTT	ATAD2	ENSG00000156802.13	transcript	ENST00000287394.10	protein_coding	2/27			chr8	TogoVar
ATAD3B_chr1_1466765_1502848	1482324	G G	GGCCGGCC others(16): Show GGCCGGCCACAGATGGAGCCCCGC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG03471.hp2 HG03486.hp2 others(1): Show HG00642.hp2 HG03471.hp2 HG03486.hp2 NA20300.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0012 a0001c0008t0027 a0001c0008t0012 a0001c0008t0027	a0001c0008t0012g0096 a0001c0008t0012g0098 a0001c0008t0012g0100 others(1): Show a0001c0008t0012g0096 a0001c0008t0012g0098 a0001c0008t0012g0100 a0001c0008t0027g0099	4	276	0.0145	23	c.680 others(36): Show c.680+22_680+44dupGCCGGCCACAGATGGAGCCCCGC	ATAD3B	ENSG00000160072.20	transcript	ENST00000673477.1	protein_coding	6/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATF4_chr22_39515562_39527683	39523993	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp1 NA18955.hp2 HG02071.hp1 NA18955.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0001 a0002c0002t0002g0001	2	354	0.0057	23	c.13 others(34): Show c.1391_*1392insTTTTTTTTTTTTTTTTTTTTTTT	ATF4	ENSG00000128272.18	transcript	ENST00000674920.3	protein_coding		1311		chr22	TogoVar
ATF6_chr1_161761320_161969070	161920294	C C	CTCTTTTT others(16): Show CTCTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0144 a0001c0001t0005g0144	1	332	0.0030	23	c.180 others(42): Show c.1804+7915_1804+7916insCTTTTTTTTTTTTTTTTTTTTTT	ATF6	ENSG00000118217.7	transcript	ENST00000367942.4	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATF6_chr1_161761320_161969070	161920294	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01069.hp2 HG01071.hp2 others(13): Show HG00639.hp1 HG01069.hp2 HG01071.hp2 HG01934.hp1 HG01981.hp2 HG02572.hp2 HG03492.hp2 NA18942.hp2 NA18974.hp1 NA18986.hp2 NA19001.hp2 NA19002.hp2 NA19055.hp1 NA19074.hp1 NA19081.hp1 NA20805.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0006 a0001c0001t0057 others(2): Show a0001c0001t0005 a0001c0001t0006 a0001c0001t0057 a0001c0001t0060 a0001c0001t0064	a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0126 others(12): Show a0001c0001t0005g0124 a0001c0001t0005g0125 a0001c0001t0005g0126 a0001c0001t0005g0132 a0001c0001t0005g0137 a0001c0001t0005g0138 a0001c0001t0005g0142 a0001c0001t0006g0003 a0001c0001t0006g0006 a0001c0001t0006g0143 a0001c0001t0006g0147 a0001c0001t0006g0152 a0001c0001t0057g0121 a0001c0001t0060g0127 a0001c0001t0064g0009	16	332	0.0482	23	c.180 others(42): Show c.1804+7932_1804+7933insTTTTTTTTTTTTTTTTTTTTTTT	ATF6	ENSG00000118217.7	transcript	ENST00000367942.4	protein_coding	15/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATF7_chr12_53507054_53631382	53535328	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18947.hp1 NA18984.hp1 NA19080.hp1 others(1): Show NA18947.hp1 NA18984.hp1 NA19080.hp1 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0141 a0001c0001t0006g0142 a0001c0001t0006g0143 others(1): Show a0001c0001t0006g0141 a0001c0001t0006g0142 a0001c0001t0006g0143 a0001c0001t0006g0144	4	330	0.0121	23	c.403 others(38): Show c.403-670_403-669insTTTTTTTTTTTTTTTTTTTTTTT	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	5/11			chr12	TogoVar
ATF7_chr12_53507054_53631382	53587366	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG03195.hp1 NA18944.hp1 others(6): Show HG01256.hp2 HG03195.hp1 NA18944.hp1 NA18946.hp1 NA18953.hp2 NA18954.hp2 NA18956.hp1 NA18956.hp2 NA18980.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0252 others(6): Show a0001c0001t0001g0243 a0001c0001t0001g0248 a0001c0001t0001g0252 a0001c0001t0001g0259 a0001c0001t0001g0260 a0001c0001t0001g0269 a0001c0001t0001g0270 a0001c0001t0001g0286 a0001c0001t0004g0188	9	330	0.0273	23	c.48+ others(40): Show c.48+13586_48+13587insTTTTTTTTTTTTTTTTTTTTTTT	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11			chr12	TogoVar
ATF7_chr12_53507054_53631382	53587843	A A	ATATATAT others(16): Show ATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp2 HG01928.hp1 HG01168.hp1 HG01168.hp2 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0005 a0001c0001t0001 a0001c0002t0005	a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0002t0005g0171 a0001c0001t0001g0262 a0001c0001t0001g0263 a0001c0002t0005g0171	3	330	0.0091	23	c.48+ others(40): Show c.48+13109_48+13110insATATATATATATATATATATATA	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11			chr12	TogoVar
ATF7_chr12_53507054_53631382	53587843	A A	ATATATAT others(16): Show ATATATATATATATATATATATTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	330	0.0030	23	c.48+ others(40): Show c.48+13109_48+13110insAAATATATATATATATATATATA	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11			chr12	TogoVar
ATF7_chr12_53507054_53631382	53587843	A A	ATATATAT others(16): Show ATATATATATATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG06807.hp1 HG02145.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0151 a0001c0001t0001g0157 a0001c0001t0001g0151 a0001c0001t0001g0157	2	330	0.0061	23	c.48+ others(40): Show c.48+13109_48+13110insAAAAATATATATATATATATATA	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11			chr12	TogoVar
ATF7_chr12_53507054_53631382	53587843	A A	ATATATAT others(16): Show ATATATATATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0152 a0001c0001t0001g0152	1	330	0.0030	23	c.48+ others(40): Show c.48+13109_48+13110insAAAAAAATATATATATATATATA	ATF7	ENSG00000170653.19	transcript	ENST00000420353.7	protein_coding	2/11			chr12	TogoVar
ATG10_chr5_81967023_82261133	81993360	C C	CTTCTTTC others(16): Show CTTCTTTCTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0008 a0002c0002t0008	a0002c0002t0008g0077 a0002c0002t0008g0077	1	226	0.0044	23	c.108 others(40): Show c.108+5688_108+5689insCTTTCTTTTCTTTTCTTTTCTTT	ATG10	ENSG00000152348.16	transcript	ENST00000282185.8	protein_coding	2/7		INFO_REALIGN_3_PRIME	chr5	TogoVar
ATG14_chr14_55361391_55416830	55402926	A A	AAAAATAT others(16): Show AAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19079.hp2 NA19079.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0044 a0001c0002t0002g0044	1	366	0.0027	23	c.222 others(40): Show c.222-5493_222-5492insATATATATATATATATATATTTT	ATG14	ENSG00000126775.9	transcript	ENST00000247178.6	protein_coding	1/9			chr14	TogoVar
ATG4B_chr2_241632693_241678857	241642871	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0088 a0001c0002t0005g0088	1	410	0.0024	23	c.10+ others(38): Show c.10+5147_10+5148insTTTTTTTTTTTTTTTTTTTTTTT	ATG4B	ENSG00000168397.17	transcript	ENST00000404914.8	protein_coding	1/12			chr2	TogoVar
ATG7_chr3_11267397_11562665	11378027	A A	ATTTTTTT others(16): Show ATTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02615.hp1 HG02970.hp1 others(4): Show HG02257.hp1 HG02615.hp1 HG02970.hp1 HG02976.hp2 HG03130.hp1 NA19043.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0003 a0001c0001t0005 a0001c0002t0013 others(1): Show a0001c0001t0003 a0001c0001t0005 a0001c0002t0013 a0001c0002t0017	a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0261 others(4): Show a0001c0001t0003g0255 a0001c0001t0003g0256 a0001c0001t0003g0261 a0001c0001t0005g0254 a0001c0001t0005g0257 a0001c0002t0013g0133 a0001c0002t0017g0120	7	292	0.0240	23	c.187 others(42): Show c.1876-1927_1876-1926insTTTTTTTTTTTTTTTTTTTTTTT	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	18/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATG7_chr3_11267397_11562665	11475868	G G	GACACACA others(16): Show GACACACAACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0011 a0001c0001t0002g0011	1	292	0.0034	23	c.207 others(44): Show c.2079+48949_2079+48950insACACACACACACACACACACACA	ATG7	ENSG00000197548.13	transcript	ENST00000693202.1	protein_coding	20/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATL2_chr2_38288954_38382273	38311381	C C	CAGTCTCC others(16): Show CAGTCTCCTAAACACTCTTCTGGA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00140.hp1 HG00323.hp1 others(78): Show HG00099.hp1 HG00140.hp1 HG00323.hp1 HG00642.hp2 HG00738.hp1 HG01069.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01175.hp2 HG01243.hp2 HG01258.hp2 HG01891.hp1 HG01934.hp2 HG01943.hp1 HG01943.hp2 HG01975.hp2 HG01981.hp1 HG01993.hp1 HG01993.hp2 HG02055.hp1 HG02071.hp2 HG02080.hp1 HG02083.hp1 HG02129.hp1 HG02135.hp1 HG02135.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02280.hp1 HG02280.hp2 HG02451.hp2 HG02559.hp1 HG02602.hp1 HG02602.hp2 HG02717.hp2 HG02723.hp2 HG02735.hp2 HG02818.hp1 HG02886.hp1 HG02895.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03130.hp1 HG03225.hp1 HG03453.hp2 HG03490.hp1 HG03490.hp2 HG03492.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp1 HG03704.hp2 HG03831.hp1 HG03834.hp2 HG03927.hp1 HG04199.hp1 HG04228.hp1 NA18939.hp1 NA18939.hp2 NA18953.hp2 NA18978.hp1 NA18981.hp2 NA18984.hp2 NA18998.hp2 NA19030.hp1 NA19056.hp1 NA19063.hp1 NA19064.hp1 NA19086.hp1 NA19240.hp1 NA20129.hp2 NA20300.hp2 homoSapiens_chm13v2.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0006 a0007	a0001c0001 a0002c0006 a0004c0008 others(2): Show a0001c0001 a0002c0006 a0004c0008 a0006c0011 a0007c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(11): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0009 a0001c0001t0010 a0001c0001t0011 a0001c0001t0018 a0001c0001t0031 a0001c0001t0035 a0002c0006t0004 a0002c0006t0009 a0004c0008t0002 a0006c0011t0002 a0007c0010t0002	a0001c0001t0001g0079 a0001c0001t0001g0094 a0001c0001t0002g0050 others(78): Show a0001c0001t0001g0079 a0001c0001t0001g0094 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 a0001c0001t0002g0056 a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0062 a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0067 a0001c0001t0002g0068 a0001c0001t0002g0072 a0001c0001t0002g0073 a0001c0001t0002g0074 a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0080 a0001c0001t0002g0081 a0001c0001t0002g0083 a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0088 a0001c0001t0002g0092 a0001c0001t0002g0093 a0001c0001t0002g0101 a0001c0001t0002g0104 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0108 a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 a0001c0001t0002g0121 a0001c0001t0002g0122 a0001c0001t0002g0123 a0001c0001t0002g0124 a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0002g0127 a0001c0001t0004g0051 a0001c0001t0004g0058 a0001c0001t0004g0060 a0001c0001t0004g0063 a0001c0001t0004g0064 a0001c0001t0004g0077 a0001c0001t0004g0087 a0001c0001t0004g0091 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0105 a0001c0001t0004g0109 a0001c0001t0004g0119 a0001c0001t0004g0120 a0001c0001t0009g0075 a0001c0001t0009g0089 a0001c0001t0009g0097 a0001c0001t0010g0082 a0001c0001t0010g0100 a0001c0001t0010g0115 a0001c0001t0011g0070 a0001c0001t0011g0071 a0001c0001t0011g0098 a0001c0001t0018g0099 a0001c0001t0031g0055 a0001c0001t0035g0090 a0002c0006t0004g0168 a0002c0006t0004g0170 a0002c0006t0009g0157 a0004c0008t0002g0025 a0006c0011t0002g0069 a0007c0010t0002g0096	81	236	0.3432	23	c.805 others(38): Show c.805-957_805-935dupTCCAGAAGAGTGTTTAGGAGACT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	7/12			chr2	TogoVar
ATL2_chr2_38288954_38382273	38334880	A A	ATATAATA others(16): Show ATATAATATATAATATATATTATT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02486.hp1 HG02922.hp1 HG02109.hp1 HG02486.hp1 HG02922.hp1	a0003 a0003	a0003c0005 a0003c0005	a0003c0005t0001 a0003c0005t0001	a0003c0005t0001g0046 a0003c0005t0001g0047 a0003c0005t0001g0048 a0003c0005t0001g0046 a0003c0005t0001g0047 a0003c0005t0001g0048	3	236	0.0127	23	c.363 others(40): Show c.363+8365_363+8387dupAATAATATATATTATATATTATA	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATL2_chr2_38288954_38382273	38337486	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0086 a0001c0001t0002g0086	1	236	0.0042	23	c.363 others(40): Show c.363+5759_363+5781dupTTTTTTTTTTTTTTTTTTTTTTT	ATL2	ENSG00000119787.14	transcript	ENST00000378954.9	protein_coding	2/12			chr2	TogoVar
ATL3_chr11_63619087_63676376	63657208	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG03453.hp1 HG03540.hp2 HG02486.hp1 HG03453.hp1 HG03540.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0011 a0001c0001t0007 a0001c0001t0011	a0001c0001t0007g0030 a0001c0001t0007g0031 a0001c0001t0011g0034 a0001c0001t0007g0030 a0001c0001t0007g0031 a0001c0001t0011g0034	3	242	0.0124	23	c.405 others(40): Show c.405+1552_405+1553insTTTTTTTTTTTTTTTTTTTTTTT	ATL3	ENSG00000184743.13	transcript	ENST00000398868.8	protein_coding	3/12			chr11	TogoVar
ATOSA_chr15_52576321_52684388	52672172	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG01255.hp1	a0004 a0004	a0004c0005 a0004c0005	a0004c0005t0001 a0004c0005t0001	a0004c0005t0001g0198 a0004c0005t0001g0198	1	362	0.0028	23	c.16+ others(38): Show c.16+5833_16+5834insTTTTTTTTTTTTTTTTTTTTTTT	ATOSA	ENSG00000047346.13	transcript	ENST00000619572.5	protein_coding	2/12			chr15	TogoVar
ATP10B_chr5_160558120_160857211	160704914	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG03041.hp1 NA21309.hp1 HG02451.hp2 HG03041.hp1 NA21309.hp1	a0001 a0007 a0001 a0007	a0001c0011 a0007c0015 a0001c0011 a0007c0015	a0001c0011t0035 a0007c0015t0004 a0001c0011t0035 a0007c0015t0004	a0001c0011t0035g0195 a0007c0015t0004g0176 a0007c0015t0004g0187 a0001c0011t0035g0195 a0007c0015t0004g0176 a0007c0015t0004g0187	3	236	0.0127	23	c.-20 others(44): Show c.-205+11994_-205+11995insAAAAAAAAAAAAAAAAAAAAAAA	ATP10B	ENSG00000118322.14	transcript	ENST00000327245.10	protein_coding	3/25			chr5	TogoVar
ATP11A_chr13_112685038_112892168	112803810	C C	CCCTCCTT others(16): Show CCCTCCTTCTCTCATTCCCCTCCT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0128 a0001c0006t0001g0128	1	254	0.0039	23	c.163 others(40): Show c.163-1139_163-1138insTCTCATTCCCCTCCTCCTCCTTC	ATP11A	ENSG00000068650.19	transcript	ENST00000375645.8	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr13	TogoVar
ATP11C_chrX_139721348_139938053	139866343	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01978.hp2 NA19005.hp1 NA19090.hp1 HG01978.hp2 NA19005.hp1 NA19090.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054 a0002c0002t0002g0052 a0002c0002t0002g0053 a0002c0002t0002g0054	3	234	0.0128	23	c.28- others(40): Show c.28-39543_28-39521dupTTTTTTTTTTTTTTTTTTTTTTT	ATP11C	ENSG00000101974.15	transcript	ENST00000682941.1	protein_coding	1/29			chrX	TogoVar
ATP2B3_chrX_153512642_153587929	153584594	A A	AGGGAGGG others(16): Show AGGGAGGGAGGGAGGGAGGGAGGG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0231 a0001c0003t0007g0231	1	267	0.0038	23	c.42 others(34): Show c.4296_*4297insGGGAGGGAGGGAGGGAGGGAGGG	ATP2B3	ENSG00000067842.19	transcript	ENST00000263519.5	protein_coding		1666		chrX	TogoVar
ATP2B4_chr1_203621832_203749081	203686685	C C	CTTTTTTT others(16): Show CTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18964.hp1 NA18964.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0201 a0001c0001t0004g0201	1	318	0.0031	23	c.193 others(40): Show c.193+3291_193+3313dupTTTTTTTTTTTTTTTTTTTTTTT	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	2/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2B4_chr1_203621832_203749081	203719225	G G	GAAAAAAA others(16): Show GAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0042 a0001c0001t0042	a0001c0001t0042g0144 a0001c0001t0042g0144	1	318	0.0031	23	c.240 others(42): Show c.2407-1304_2407-1303insAAAAAAAAAAAAAAAAAAAAAAA	ATP2B4	ENSG00000058668.16	transcript	ENST00000357681.10	protein_coding	15/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
ATP2C1_chr3_130889084_131008150	130902284	G G	GTTTTTTT others(16): Show GTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0369 a0001c0003t0001g0369	1	382	0.0026	23	c.6+7 others(36): Show c.6+7521_6+7522insTTTTTTTTTTTTTTTTTTTTTTT	ATP2C1	ENSG00000017260.20	transcript	ENST00000510168.6	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr3	TogoVar
ATP2C2_chr16_84363538_84469187	84397655	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00621.hp2 HG01515.hp2 others(15): Show HG00609.hp2 HG00621.hp2 HG01515.hp2 HG02055.hp2 HG03490.hp2 HG03834.hp2 NA18939.hp2 NA18942.hp1 NA18949.hp2 NA18961.hp2 NA18991.hp2 NA19002.hp1 NA19004.hp2 NA19011.hp2 NA19070.hp1 NA19077.hp1 NA19082.hp2 NA19087.hp2	a0001 a0002 a0019 a0001 a0002 a0019	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0005 a0001c0010 a0001c0011 a0001c0044 a0001c0045 a0002c0004 a0002c0007 a0002c0016 a0002c0048 a0019c0051	a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 others(12): Show a0001c0001t0002 a0001c0002t0002 a0001c0003t0001 a0001c0005t0001 a0001c0010t0001 a0001c0010t0002 a0001c0011t0001 a0001c0011t0002 a0001c0044t0002 a0001c0045t0001 a0002c0004t0001 a0002c0007t0001 a0002c0016t0002 a0002c0048t0001 a0019c0051t0009	a0001c0001t0002g0186 a0001c0001t0002g0195 a0001c0002t0002g0155 others(15): Show a0001c0001t0002g0186 a0001c0001t0002g0195 a0001c0002t0002g0155 a0001c0003t0001g0152 a0001c0005t0001g0328 a0001c0005t0001g0424 a0001c0010t0001g0058 a0001c0010t0002g0135 a0001c0011t0001g0201 a0001c0011t0002g0193 a0001c0011t0002g0194 a0001c0044t0002g0363 a0001c0045t0001g0204 a0002c0004t0001g0223 a0002c0007t0001g0399 a0002c0016t0002g0354 a0002c0048t0001g0342 a0019c0051t0009g0407	18	432	0.0417	23	c.100 others(38): Show c.100-826_100-825insAAAAAAAAAAAAAAAAAAAAAAA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84397672	A A	AAAAAAAA others(16): Show AAAAAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA19004.hp1 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0296 a0001c0001t0003g0296	1	432	0.0023	23	c.100 others(38): Show c.100-826_100-825insAAAAAAAAAAAAAAAAAAAAATA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr16	TogoVar
ATP2C2_chr16_84363538_84469187	84424599	T T	TTTTTTTT others(16): Show TTTTTTTTTTTTTTTTTTTTTTTA	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0028 a0001c0028	a0001c0028t0001 a0001c0028t0001	a0001c0028t0001g0003 a0001c0028t0001g0003	1	432	0.0023	23	c.920 others(40): Show c.920-1136_920-1135insTTTTTTTTTTTTTTTTTTTTTTA	ATP2C2	ENSG00000064270.13	transcript	ENST00000262429.9	protein_coding	10/26			chr16	TogoVar
ATP5MC1_chr17_48887787_48900871	48899067	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02293.hp2 HG03017.hp2 NA20300.hp1 HG02293.hp2 HG03017.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0002 a0001c0001t0003g0003 a0001c0001t0002g0002 a0001c0001t0003g0003	3	334	0.0090	23	c.32 others(34): Show c.3298_*3299insAAAAAAAAAAAAAAAAAAAAAAA	ATP5MC1	ENSG00000159199.14	transcript	ENST00000393366.7	protein_coding		3197		chr17	TogoVar
ATP5MC2_chr12_53660170_53681083	53672083	C C	CAAAAAAA others(16): Show CAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 NA18989.hp1 HG02630.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0093 a0001c0001t0001g0076 a0001c0001t0001g0093	2	418	0.0048	23	c.39+ others(36): Show c.39+492_39+493insTTTTTTTTTTTTTTTTTTTTTTT	ATP5MC2	ENSG00000135390.21	transcript	ENST00000394349.9	protein_coding	2/4			chr12	TogoVar
ATP5MGL_chr22_42634803_42645601	42638728	T T	TAAAAAAA others(16): Show TAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp1 NA18966.hp1 NA18976.hp2 HG00673.hp1 NA18966.hp1 NA18976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0002g0000 a0001c0001t0005g0000	3	374	0.0080	23	c.12 others(34): Show c.1243_*1244insTTTTTTTTTTTTTTTTTTTTTTT	ATP5MGL	ENSG00000249222.1	transcript	ENST00000505920.1	protein_coding		1074		chr22	TogoVar
ATP5MJ_chr14_103907288_103926529	103914837	C C	CAAAAAGG others(16): Show CAAAAAGGAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0166 a0001c0001t0002g0166	1	440	0.0023	23	c.124 others(38): Show c.124+228_124+229insTTTTTTTTTTTTTTTTCCTTTTT	ATP5MJ	ENSG00000156411.10	transcript	ENST00000286953.8	protein_coding	2/3			chr14	TogoVar

Search by Variant

Search

Search Results (Total: 8696 hits)