Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

e.g. ALDH2_chr12_111761933_111822532, HBB_chr11_5220464_5232071.

Chr

Chromosome name (e.g., chr11).

Snpeff genename

Exact SnpEff gene name.

Sampleids

Target sampleid (e.g. HG02615).

Snpeff haplotype class

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

Snpeff annotation impact

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

Snpeff annotation impact detail

Keyword match in SnpEff annotation.

Hapid

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

Samplehapid

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

No_hapid

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

No_samplehapid

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

Start

Start position (GRCh38).

End

End position (GRCh38).

Minac

Minimum alternate allele count (≥).

Maxac

Maximum alternate allele count (≤).

Minlen

Minimum variant length (≥).

Maxlen

Maximum variant length (≤).

Sort By

Select column to sort.

Order by

Ascending or descending.

Show

Results per page.

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

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
CPA6_chr8_67417038_67751360	67448639	G G	GAAAAAAA others(7): Show GAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02965.hp2 HG02970.hp2 others(13): Show HG02922.hp2 HG02965.hp2 HG02970.hp2 HG02976.hp2 HG03195.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp1 HG03688.hp1 HG06807.hp1 NA18946.hp1 NA18952.hp2 NA19085.hp1 NA19240.hp2 NA20300.hp2 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0012 others(13): Show a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0022 a0001c0001t0001g0030 a0001c0001t0001g0046 a0001c0001t0001g0089 a0001c0001t0001g0091 a0001c0001t0001g0105 a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0115 a0001c0001t0001g0118 a0002c0002t0001g0021 a0002c0002t0001g0029 a0002c0002t0001g0038	16	144	0.1111	14	c.839 others(33): Show c.839-14413_839-14400dupTTTTTTTTTTTTTT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	8/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67496555	A A	ATATATAT others(7): Show ATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0016 a0001c0001t0001g0016	1	144	0.0069	14	c.636 others(33): Show c.636+10231_636+10232insAATATATATATATA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	6/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67560160	G G	GATATATA others(7): Show GATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02109.hp2 others(4): Show HG01070.hp2 HG01071.hp2 HG02109.hp2 HG02451.hp1 HG02451.hp2 NA18906.hp1 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0123 others(4): Show a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0123 a0001c0001t0001g0125 a0001c0001t0001g0143 a0002c0002t0001g0101 a0002c0002t0001g0141	7	144	0.0486	14	c.193 others(33): Show c.193-42127_193-42114dupATATATATATATAT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	2/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67642793	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02055.hp1 HG02145.hp1 others(14): Show HG01891.hp2 HG02055.hp1 HG02145.hp1 HG02258.hp1 HG02451.hp2 HG02615.hp1 HG02622.hp1 HG02922.hp1 HG02965.hp1 HG02970.hp1 HG03209.hp1 HG03225.hp2 HG03471.hp1 HG03688.hp2 NA18946.hp2 NA18962.hp1 NA19240.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0010 a0001c0001 a0002c0002 a0007c0010	a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0002c0002t0001 a0007c0010t0001	a0001c0001t0001g0056 a0001c0001t0001g0080 a0001c0001t0001g0115 others(14): Show a0001c0001t0001g0056 a0001c0001t0001g0080 a0001c0001t0001g0115 a0001c0001t0001g0126 a0001c0001t0003g0002 a0002c0002t0001g0003 a0002c0002t0001g0013 a0002c0002t0001g0032 a0002c0002t0001g0045 a0002c0002t0001g0067 a0002c0002t0001g0073 a0002c0002t0001g0082 a0002c0002t0001g0101 a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0130 a0007c0010t0001g0006	17	144	0.1181	14	c.117 others(33): Show c.117-18556_117-18543dupTGTGTGTGTGTGTG	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67678225	T T	TCACACAC others(7): Show TCACACACACACACA	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02258.hp1 HG02559.hp1 others(2): Show HG02055.hp2 HG02258.hp1 HG02559.hp1 HG03516.hp2 NA18981.hp2	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0001 a0002c0002 a0004c0005 a0001c0001 a0002c0002 a0004c0005	a0001c0001t0001 a0002c0002t0001 a0004c0005t0001 a0001c0001t0001 a0002c0002t0001 a0004c0005t0001	a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 others(2): Show a0001c0001t0001g0004 a0001c0001t0001g0016 a0001c0001t0001g0017 a0002c0002t0001g0003 a0004c0005t0001g0117	5	144	0.0347	14	c.117 others(33): Show c.117-53975_117-53974insTGTGTGTGTGTGTG	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67684001	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0112 a0001c0001t0001g0112	1	144	0.0069	14	c.117 others(33): Show c.117-59764_117-59751dupTATATATATATATA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67711720	C C	CACACACA others(7): Show CACACACACACACAT	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	144	0.0069	14	c.116 others(33): Show c.116+34293_116+34294insATGTGTGTGTGTGT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67713083	A A	ATGTGTGT others(7): Show ATGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	144	0.0069	14	c.116 others(33): Show c.116+32917_116+32930dupCACACACACACACA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67713099	G G	GTGTGTGT others(7): Show GTGTGTGTATATATA	intron_variant intron_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	144	0.0069	14	c.116 others(33): Show c.116+32914_116+32915insTATATATACACACA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67713099	G G	GTGTGTGT others(7): Show GTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02896.hp2 NA19043.hp1 HG01884.hp1 HG02896.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0142 a0002c0002t0001g0109 a0002c0002t0001g0141 a0001c0001t0001g0142 a0002c0002t0001g0109 a0002c0002t0001g0141	3	144	0.0208	14	c.116 others(33): Show c.116+32914_116+32915insTATATACACACACA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67713099	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG01069.hp2 NA19060.hp2 HG01069.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0050 a0001c0001t0001g0018 a0001c0001t0001g0050	2	144	0.0139	14	c.116 others(33): Show c.116+32914_116+32915insTATACACACACACA	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPA6_chr8_67417038_67751360	67733196	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02615.hp1 NA19240.hp2 others(1): Show HG02559.hp2 HG02615.hp1 NA19240.hp2 NA20300.hp1	a0001 a0002 a0007 a0001 a0002 a0007	a0001c0001 a0002c0002 a0007c0010 a0001c0001 a0002c0002 a0007c0010	a0001c0001t0001 a0002c0002t0001 a0007c0010t0001 a0001c0001t0001 a0002c0002t0001 a0007c0010t0001	a0001c0001t0001g0007 a0001c0001t0001g0075 a0002c0002t0001g0023 others(1): Show a0001c0001t0001g0007 a0001c0001t0001g0075 a0002c0002t0001g0023 a0007c0010t0001g0006	4	144	0.0278	14	c.116 others(33): Show c.116+12804_116+12817dupTTTTTTTTTTTTTT	CPA6	ENSG00000165078.13	transcript	ENST00000297770.10	protein_coding	1/10			chr8	TogoVar
CPAMD8_chr19_16887951_17031810	16894921	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp1 HG02129.hp2 others(2): Show HG00438.hp1 HG00597.hp1 HG02129.hp2 HG02922.hp2 HG03540.hp2	a0031 a0045 a0058 others(1): Show a0031 a0045 a0058 a0077	a0031c0041 a0045c0051 a0045c0118 others(2): Show a0031c0041 a0045c0051 a0045c0118 a0058c0158 a0077c0087	a0031c0041t0001 a0045c0051t0001 a0045c0118t0001 others(2): Show a0031c0041t0001 a0045c0051t0001 a0045c0118t0001 a0058c0158t0001 a0077c0087t0001	a0031c0041t0001g0253 a0045c0051t0001g0083 a0045c0118t0001g0024 others(2): Show a0031c0041t0001g0253 a0045c0051t0001g0083 a0045c0118t0001g0024 a0058c0158t0001g0230 a0077c0087t0001g0225	5	278	0.0180	14	c.542 others(33): Show c.5426+1241_5426+1254dupGTGTGTGTGTGTGT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	41/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16987179	A A	AATATATA others(7): Show AATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0047 a0047	a0047c0046 a0047c0046	a0047c0046t0002 a0047c0046t0002	a0047c0046t0002g0136 a0047c0046t0002g0136	1	278	0.0036	14	c.139 others(33): Show c.1395+2450_1395+2463dupATATATATATATAT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	13/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	16990863	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03490.hp2 HG03490.hp2	a0113 a0113	a0113c0136 a0113c0136	a0113c0136t0002 a0113c0136t0002	a0113c0136t0002g0169 a0113c0136t0002g0169	1	278	0.0036	14	c.126 others(33): Show c.1267-1106_1267-1093dupTTTTTTTTTTTTTT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	12/41			chr19	TogoVar
CPAMD8_chr19_16887951_17031810	17018717	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0061 a0061	a0061c0142 a0061c0142	a0061c0142t0002 a0061c0142t0002	a0061c0142t0002g0015 a0061c0142t0002g0015	1	278	0.0036	14	c.267 others(31): Show c.267+1600_267+1613dupGTGTGTGTGTGTGT	CPAMD8	ENSG00000160111.15	transcript	ENST00000443236.7	protein_coding	3/41			chr19	TogoVar
CPB1_chr3_148822811_148865187	148846797	G G	GTATATAT others(7): Show GTATATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG02145.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0043 a0001c0001t0001g0043	1	456	0.0022	14	c.981 others(31): Show c.981+1203_981+1216dupATATATATATATAT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB1_chr3_148822811_148865187	148846797	G G	GTGTATAT others(7): Show GTGTATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG02080.hp1 NA18971.hp2 HG00609.hp2 HG02080.hp1 NA18971.hp2	a0001 a0005 a0001 a0005	a0001c0001 a0005c0009 a0001c0001 a0005c0009	a0001c0001t0001 a0005c0009t0001 a0001c0001t0001 a0005c0009t0001	a0001c0001t0001g0274 a0001c0001t0001g0327 a0005c0009t0001g0328 a0001c0001t0001g0274 a0001c0001t0001g0327 a0005c0009t0001g0328	3	456	0.0066	14	c.981 others(31): Show c.981+1172_981+1173insGTATATATATATAT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB1_chr3_148822811_148865187	148846797	G G	GTGTGTAT others(7): Show GTGTGTATATATATA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0405 a0001c0001t0001g0405	1	456	0.0022	14	c.981 others(31): Show c.981+1172_981+1173insGTGTATATATATAT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB1_chr3_148822811_148865187	148846797	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTATA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00673.hp2 HG01168.hp2 others(6): Show HG00438.hp1 HG00673.hp2 HG01168.hp2 HG01891.hp1 NA18939.hp1 NA18992.hp1 NA19007.hp1 NA19068.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0067 a0001c0001t0001g0079 a0001c0001t0001g0170 others(6): Show a0001c0001t0001g0067 a0001c0001t0001g0079 a0001c0001t0001g0170 a0001c0001t0001g0179 a0001c0001t0001g0196 a0001c0001t0001g0240 a0001c0001t0001g0251 a0001c0001t0001g0290 a0001c0001t0001g0309	9	456	0.0197	14	c.981 others(31): Show c.981+1172_981+1173insGTGTGTGTGTATAT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPB1_chr3_148822811_148865187	148846797	G G	GTGTGTGT others(7): Show GTGTGTGTGTGTGTA	intron_variant intron_variant	MODIFIER	NA18994.hp1 NA18994.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0350	1	456	0.0022	14	c.981 others(31): Show c.981+1172_981+1173insGTGTGTGTGTGTAT	CPB1	ENSG00000153002.12	transcript	ENST00000282957.9	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr3	TogoVar
CPEB1_chr15_82538201_82652363	82574722	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02257.hp2 NA18962.hp1 HG02257.hp2 NA18962.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0010 a0002c0002t0003g0018 a0002c0002t0003g0010 a0002c0002t0003g0018	2	354	0.0057	14	c.272 others(31): Show c.272-3204_272-3191dupTTTTTTTTTTTTTT	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12			chr15	TogoVar
CPEB1_chr15_82538201_82652363	82584903	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19240.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0188 a0001c0001t0009g0188	1	354	0.0028	14	c.272 others(33): Show c.272-13385_272-13372dupAAAAAAAAAAAAAA	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	3/12			chr15	TogoVar
CPEB1_chr15_82538201_82652363	82639935	G G	GGGAATTA others(7): Show GGGAATTAAACTAGA	intron_variant intron_variant	MODIFIER	NA19075.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0350 a0001c0001t0001g0350	1	354	0.0028	14	c.-98 others(31): Show c.-98+7201_-98+7202insTCTAGTTTAATTCC	CPEB1	ENSG00000214575.10	transcript	ENST00000684509.1	protein_coding	1/12			chr15	TogoVar
CPEB2_chr4_14997481_15075151	15018936	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0001 a0003c0003t0001	a0003c0003t0001g0138 a0003c0003t0001g0138	1	288	0.0035	14	c.212 others(33): Show c.2125+1679_2125+1692dupTATATATATATATA	CPEB2	ENSG00000137449.17	transcript	ENST00000538197.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPEB2_chr4_14997481_15075151	15018969	T T	TATATATA others(7): Show TATATATATATATAC	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0006 a0004c0004t0006	a0004c0004t0006g0054 a0004c0004t0006g0054	1	288	0.0035	14	c.212 others(33): Show c.2125+1692_2125+1693insTATATATATATACA	CPEB2	ENSG00000137449.17	transcript	ENST00000538197.7	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPEB3_chr10_92041692_92296078	92048387	T T	TCACACAC others(7): Show TCACACACACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02257.hp1 HG02572.hp2 HG02615.hp1 others(3): Show HG02257.hp1 HG02572.hp2 HG02615.hp1 HG02723.hp2 HG02897.hp2 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0011 a0001c0001t0037 a0001c0004t0011 a0001c0001t0011 a0001c0001t0037 a0001c0004t0011	a0001c0001t0011g0217 a0001c0001t0011g0265 a0001c0001t0011g0272 others(3): Show a0001c0001t0011g0217 a0001c0001t0011g0265 a0001c0001t0011g0272 a0001c0001t0037g0273 a0001c0004t0011g0252 a0001c0004t0011g0264	6	278	0.0216	14	c.38 others(25): Show c.3811_*3824dupTGTGTGTGTGTGTG	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	10/10	3824		chr10	TogoVar
CPEB3_chr10_92041692_92296078	92059325	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01070.hp2 others(26): Show HG00639.hp1 HG00738.hp1 HG01070.hp2 HG01081.hp1 HG01258.hp1 HG01433.hp2 HG01928.hp2 HG01952.hp2 HG02015.hp2 HG02083.hp2 HG02257.hp1 HG02572.hp2 HG02615.hp1 HG02622.hp2 HG02723.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp1 HG02965.hp2 HG03041.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp1 HG03225.hp1 HG03453.hp2 HG03486.hp2 HG03654.hp1 NA18978.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 others(8): Show a0001c0001t0002 a0001c0001t0005 a0001c0001t0011 a0001c0001t0015 a0001c0001t0025 a0001c0001t0036 a0001c0001t0037 a0001c0001t0038 a0001c0003t0001 a0001c0003t0010 a0001c0004t0011	a0001c0001t0002g0262 a0001c0001t0005g0246 a0001c0001t0005g0248 others(26): Show a0001c0001t0002g0262 a0001c0001t0005g0246 a0001c0001t0005g0248 a0001c0001t0005g0249 a0001c0001t0005g0250 a0001c0001t0005g0251 a0001c0001t0005g0254 a0001c0001t0005g0257 a0001c0001t0005g0258 a0001c0001t0005g0259 a0001c0001t0005g0260 a0001c0001t0005g0261 a0001c0001t0011g0265 a0001c0001t0011g0272 a0001c0001t0015g0267 a0001c0001t0025g0253 a0001c0001t0036g0275 a0001c0001t0037g0273 a0001c0001t0038g0263 a0001c0003t0001g0138 a0001c0003t0001g0161 a0001c0003t0001g0162 a0001c0003t0001g0165 a0001c0003t0001g0167 a0001c0003t0001g0174 a0001c0003t0001g0180 a0001c0003t0001g0199 a0001c0003t0010g0193 a0001c0004t0011g0264	29	278	0.1043	14	c.187 others(33): Show c.1870-6887_1870-6886insTTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	9/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92258625	A A	AACTAATA others(7): Show AACTAATATATATAT	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA18964.hp2 NA19058.hp2 HG03209.hp1 NA18964.hp2 NA19058.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0004 a0001c0002t0002 a0001c0002t0004	a0001c0002t0002g0020 a0001c0002t0002g0024 a0001c0002t0004g0015 a0001c0002t0002g0020 a0001c0002t0002g0024 a0001c0002t0004g0015	3	278	0.0108	14	c.-11 others(33): Show c.-11-18265_-11-18264insATATATATATTAGT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPEB3_chr10_92041692_92296078	92289718	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01517.hp2 HG02145.hp2 others(8): Show HG01516.hp2 HG01517.hp2 HG02145.hp2 HG02698.hp1 HG02896.hp2 HG02897.hp2 HG03209.hp1 HG04115.hp1 HG04184.hp1 NA18962.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 others(4): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0008 a0001c0001t0011 a0001c0002t0002 a0001c0002t0003 a0001c0002t0004	a0001c0001t0002g0240 a0001c0001t0007g0208 a0001c0001t0008g0235 others(8): Show a0001c0001t0002g0240 a0001c0001t0007g0208 a0001c0001t0008g0235 a0001c0001t0011g0217 a0001c0002t0002g0016 a0001c0002t0002g0041 a0001c0002t0002g0075 a0001c0002t0003g0052 a0001c0002t0003g0053 a0001c0002t0003g0054 a0001c0002t0004g0015	11	278	0.0396	14	c.-12 others(31): Show c.-12+1194_-12+1207dupTTTTTTTTTTTTTT	CPEB3	ENSG00000107864.15	transcript	ENST00000265997.5	protein_coding	1/9			chr10	TogoVar
CPEB4_chr5_173883349_173966980	173892997	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0154 a0001c0001t0003g0154	1	372	0.0027	14	c.112 others(33): Show c.1125+2166_1125+2179dupTGTGTGTGTGTGTG	CPEB4	ENSG00000113742.14	transcript	ENST00000265085.10	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
CPED1_chr7_120983711_121302442	120994625	C C	CTGTGTGT others(7): Show CTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0056 a0001c0001t0001g0056	1	140	0.0071	14	c.249 others(31): Show c.249+4777_249+4790dupGTGTGTGTGTGTGT	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	2/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121088763	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG04115.hp1 NA20805.hp1 others(1): Show HG01433.hp2 HG04115.hp1 NA20805.hp1 homoSapiens_chm13v2.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0003	a0002c0002t0001g0055 a0002c0002t0001g0129 a0002c0002t0002g0103 others(1): Show a0002c0002t0001g0055 a0002c0002t0001g0129 a0002c0002t0002g0103 a0002c0002t0003g0014	4	140	0.0286	14	c.617 others(31): Show c.617-8920_617-8907dupAAAAAAAAAAAAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121093397	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01192.hp2 HG02109.hp2 others(13): Show HG01074.hp2 HG01192.hp2 HG02109.hp2 HG02280.hp1 HG02647.hp2 HG02717.hp1 HG02818.hp1 HG02818.hp2 HG02886.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 NA18941.hp1 NA18998.hp1 NA19030.hp2 NA19043.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0015 a0002c0002 others(3): Show a0001c0001 a0001c0015 a0002c0002 a0002c0004 a0003c0016 a0004c0009	a0001c0001t0001 a0001c0001t0003 a0001c0015t0002 others(6): Show a0001c0001t0001 a0001c0001t0003 a0001c0015t0002 a0002c0002t0001 a0002c0002t0002 a0002c0004t0001 a0002c0004t0002 a0003c0016t0005 a0004c0009t0001	a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 others(13): Show a0001c0001t0001g0057 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0118 a0001c0001t0003g0008 a0001c0015t0002g0123 a0002c0002t0001g0070 a0002c0002t0002g0065 a0002c0004t0001g0114 a0002c0004t0002g0110 a0002c0004t0002g0112 a0002c0004t0002g0113 a0002c0004t0002g0119 a0003c0016t0005g0015 a0004c0009t0001g0029	16	140	0.1143	14	c.617 others(31): Show c.617-4284_617-4271dupCACACACACACACA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121093397	T T	TATACACA others(7): Show TATACACACACACAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA20805.hp2 NA18522.hp2 NA20805.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0008 a0001c0003t0001 a0001c0003t0008	a0001c0003t0001g0081 a0001c0003t0008g0030 a0001c0003t0001g0081 a0001c0003t0008g0030	2	140	0.0143	14	c.617 others(31): Show c.617-4301_617-4300insTACACACACACACA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	5/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121129293	A A	ATATATAT others(7): Show ATATATATATACACG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0026 a0001c0003t0003g0026	1	140	0.0071	14	c.140 others(31): Show c.1407+817_1407+818insCACGTATATATATA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	11/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121189760	T T	TTATATAT others(7): Show TTATATATATATATA	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01496.hp1 HG01975.hp1 others(9): Show HG01192.hp1 HG01496.hp1 HG01975.hp1 HG01978.hp1 HG02056.hp1 HG02280.hp1 HG02486.hp2 HG02572.hp2 HG02809.hp2 HG02922.hp1 HG02965.hp1 HG03579.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0004	a0001c0001 a0001c0003 a0002c0002 others(2): Show a0001c0001 a0001c0003 a0002c0002 a0003c0006 a0004c0009	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(7): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0010 a0001c0003t0001 a0001c0003t0002 a0001c0003t0008 a0002c0002t0001 a0003c0006t0001 a0004c0009t0001	a0001c0001t0001g0043 a0001c0001t0002g0062 a0001c0001t0002g0078 others(9): Show a0001c0001t0001g0043 a0001c0001t0002g0062 a0001c0001t0002g0078 a0001c0001t0003g0008 a0001c0001t0010g0121 a0001c0003t0001g0126 a0001c0003t0002g0125 a0001c0003t0008g0045 a0002c0002t0001g0100 a0002c0002t0001g0140 a0003c0006t0001g0040 a0004c0009t0001g0029	12	140	0.0857	14	c.205 others(35): Show c.2056-46929_2056-46916dupTATATATATATATA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121199689	A A	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0005 a0002c0002t0005g0005	1	140	0.0071	14	c.205 others(35): Show c.2056-37024_2056-37023insGAAAGAAAGAAAGA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121199693	A A	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0119 a0002c0004t0002g0119	1	140	0.0071	14	c.205 others(35): Show c.2056-37020_2056-37019insGAAAGAAAGAAAGA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	16/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121294806	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02717.hp2 HG02896.hp2 others(1): Show HG02647.hp1 HG02717.hp2 HG02896.hp2 HG03209.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0006 a0001c0007t0006 a0001c0001t0006 a0001c0007t0006	a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0124 others(1): Show a0001c0001t0006g0048 a0001c0001t0006g0049 a0001c0001t0006g0124 a0001c0007t0006g0107	4	140	0.0286	14	c.286 others(31): Show c.2869-631_2869-618dupAAAAAAAAAAAAAA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPED1_chr7_120983711_121302442	121295140	A A	AACACACA others(7): Show AACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG01081.hp2 others(5): Show HG01070.hp2 HG01071.hp2 HG01081.hp2 HG02976.hp1 HG03195.hp2 HG04115.hp2 NA18522.hp2 NA18979.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 a0001c0001 a0001c0003 a0002c0002	a0001c0001t0004 a0001c0003t0004 a0001c0003t0008 others(1): Show a0001c0001t0004 a0001c0003t0004 a0001c0003t0008 a0002c0002t0004	a0001c0001t0004g0032 a0001c0001t0004g0041 a0001c0001t0004g0077 others(5): Show a0001c0001t0004g0032 a0001c0001t0004g0041 a0001c0001t0004g0077 a0001c0003t0004g0066 a0001c0003t0008g0030 a0002c0002t0004g0133 a0002c0002t0004g0134 a0002c0002t0004g0135	8	140	0.0571	14	c.286 others(31): Show c.2869-278_2869-265dupCACACACACACACA	CPED1	ENSG00000106034.18	transcript	ENST00000310396.10	protein_coding	22/22		INFO_REALIGN_3_PRIME	chr7	TogoVar
CPE_chr4_165374008_165503547	165461180	A A	AAGAAAGA others(7): Show AAGAAAGAAAGAAAG	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02976.hp2 HG01884.hp2 HG02976.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0009 a0001c0001t0001g0010	2	332	0.0060	14	c.308 others(31): Show c.308-3209_308-3208insGAAAGAAAGAAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPE_chr4_165374008_165503547	165461186	A A	AAAAGAAA others(7): Show AAAAGAAAGAAAAAG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02280.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0177 a0001c0001t0001g0177	1	332	0.0030	14	c.308 others(31): Show c.308-3203_308-3202insAAGAAAGAAAAAGA	CPE	ENSG00000109472.14	transcript	ENST00000402744.9	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr4	TogoVar
CPHXL_chr16_75709131_75731490	75725753	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00609.hp1 HG00609.hp2 others(30): Show HG00438.hp1 HG00609.hp1 HG00609.hp2 HG00673.hp1 HG00673.hp2 HG01069.hp2 HG01106.hp1 HG02027.hp1 HG02056.hp1 HG02056.hp2 HG02083.hp1 HG02738.hp1 HG02738.hp2 HG03831.hp2 HG03834.hp1 HG04199.hp2 NA18957.hp1 NA18962.hp1 NA18965.hp2 NA18970.hp1 NA18980.hp2 NA18981.hp2 NA18986.hp1 NA18991.hp1 NA18998.hp1 NA19005.hp2 NA19009.hp1 NA19010.hp2 NA19066.hp1 NA19067.hp1 NA19081.hp1 NA19088.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0139 others(15): Show a0001c0001t0001g0003 a0001c0001t0001g0021 a0001c0001t0001g0139 a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 a0001c0001t0001g0153 a0001c0001t0001g0154	33	388	0.0851	14	c.25+ others(27): Show c.25+651_25+664dupAAAAAAAAAAAAAA	CPHXL	ENSG00000283755.2	transcript	ENST00000640559.2	protein_coding	1/2			chr16	TogoVar
CPHXL_chr16_75709131_75731490	75729585	C C	CAGCGTGC others(7): Show CAGCGTGCAACGGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00733.hp1 HG00733.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0178 a0001c0002t0001g0178	1	388	0.0026	14	c.-31 others(25): Show c.-3144_-3143insCACCGTTGCACGCT	CPHXL	ENSG00000283755.2	transcript	ENST00000640559.2	protein_coding		3096		chr16	TogoVar
CPLANE1_chr5_37101235_37254376	37123930	T T	TACACACA others(7): Show TACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG03209.hp1 HG02257.hp1 HG03209.hp1	a0008 a0008	a0008c0007 a0008c0007	a0008c0007t0003 a0008c0007t0003	a0008c0007t0003g0040 a0008c0007t0003g0045 a0008c0007t0003g0040 a0008c0007t0003g0045	2	268	0.0075	14	c.895 others(33): Show c.8958+1300_8958+1313dupGTGTGTGTGTGTGT	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	47/52			chr5	TogoVar
CPLANE1_chr5_37101235_37254376	37154459	C C	CTTTTTTT others(7): Show CTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0249 a0006c0005t0002g0249	1	268	0.0037	14	c.812 others(31): Show c.8120-480_8120-467dupAAAAAAAAAAAAAA	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	41/52			chr5	TogoVar
CPLANE1_chr5_37101235_37254376	37187060	C C	CAAAAAAA others(7): Show CAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0045 a0001c0045	a0001c0045t0001 a0001c0045t0001	a0001c0045t0001g0197 a0001c0045t0001g0197	1	268	0.0037	14	c.408 others(31): Show c.4080+340_4080+353dupTTTTTTTTTTTTTT	CPLANE1	ENSG00000197603.16	transcript	ENST00000651892.2	protein_coding	23/52			chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871421	G G	GAGAGAGA others(7): Show GAGAGAGAGAGAGAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03831.hp2 HG03831.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0003 a0001c0001t0030g0003	1	378	0.0027	14	c.-37 others(23): Show c.-373_-372insAGAGAGAGAGAGAC	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		156		chr5	TogoVar
CPLX2_chr5_175866578_175889021	175871433	C C	CAGAGAGA others(7): Show CAGAGAGAGAGAGAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01516.hp1 HG02922.hp1 HG03516.hp2 others(2): Show HG01516.hp1 HG02922.hp1 HG03516.hp2 HG03927.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0072 a0001c0001t0003 a0001c0001t0005 a0001c0001t0072	a0001c0001t0003g0003 a0001c0001t0003g0080 a0001c0001t0005g0005 others(1): Show a0001c0001t0003g0003 a0001c0001t0003g0080 a0001c0001t0005g0005 a0001c0001t0072g0003	5	378	0.0132	14	c.-36 others(23): Show c.-361_-360insAGAGAGAGAGAGAG	CPLX2	ENSG00000145920.15	transcript	ENST00000393745.8	protein_coding		144		chr5	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)