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
AHRR_chr5_316714_443285	340688	A A	ATATATAT others(28): Show ATATATATATATATATATATATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00140.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0004 a0003c0004t0004	a0003c0004t0004g0185 a0003c0004t0004g0185	1	268	0.0037	35	c.-10 others(52): Show c.-10-3204_-10-3203insATATATATATATATATATATTTTTTTTT TTTTTTT	AHRR	ENSG00000063438.20	transcript	ENST00000684583.1	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr5	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(28): Show AAAAAAAAAAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	442	0.0023	35	c.135 others(50): Show c.135+477_135+478insAAAAAAAAAAAAATATATATATATATATAT ATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(28): Show AAAAAAAAAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp2 NA18989.hp1 NA19054.hp2 others(1): Show HG03471.hp2 NA18989.hp1 NA19054.hp2 NA19074.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0010 a0001c0002t0002g0052 a0001c0002t0001g0010 a0001c0002t0002g0052	4	442	0.0091	35	c.135 others(50): Show c.135+477_135+478insAAAAAAAAATATATATATATATATATATAT ATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG03139.hp2 HG01433.hp1 HG03139.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0108 a0001c0002t0001g0109 a0001c0002t0001g0108 a0001c0002t0001g0109	2	442	0.0045	35	c.135 others(50): Show c.135+477_135+478insAAAAAAATATATATATATATATATATATAT ATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19082.hp1 NA19082.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0152 a0001c0002t0001g0152	1	442	0.0023	35	c.135 others(50): Show c.135+477_135+478insAAAAATATATATATATATATATATATATAT ATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAAAATAT others(28): Show AAAAATATACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18970.hp2 NA18970.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0304 a0001c0001t0002g0304	1	442	0.0023	35	c.135 others(50): Show c.135+477_135+478insAAATATACATATATATATATATATATATAT ATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AIMP2_chr7_6004272_6028834	6009974	A A	AAATATAC others(28): Show AAATATACATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG02300.hp1 NA19057.hp1 HG00621.hp1 HG02300.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324 a0001c0001t0002g0322 a0001c0001t0002g0323 a0001c0001t0002g0324	3	442	0.0068	35	c.135 others(50): Show c.135+477_135+478insATATACATATATATATATATATATATATAT ATATA	AIMP2	ENSG00000106305.10	transcript	ENST00000223029.8	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr7	TogoVar
AK7_chr14_96387128_96494427	96418322	T T	TAAAAAAA others(28): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG01169.hp2 HG02145.hp1 others(4): Show HG00639.hp2 HG01169.hp2 HG02145.hp1 HG02300.hp2 HG02647.hp1 HG03492.hp1 NA18906.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0007t0003 a0002c0002t0001 others(2): Show a0001c0001t0001 a0001c0007t0003 a0002c0002t0001 a0002c0002t0002 a0002c0002t0011	a0001c0001t0001g0108 a0001c0001t0001g0252 a0001c0001t0001g0277 others(4): Show a0001c0001t0001g0108 a0001c0001t0001g0252 a0001c0001t0001g0277 a0001c0007t0003g0119 a0002c0002t0001g0054 a0002c0002t0002g0306 a0002c0002t0011g0254	7	316	0.0222	35	c.499 others(52): Show c.499-2485_499-2484insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	AK7	ENSG00000140057.9	transcript	ENST00000267584.9	protein_coding	4/17		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP12_chr6_151234967_151363559	151256962	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0097 a0001c0003t0001g0097	1	316	0.0032	35	c.162 others(54): Show c.162+16238_162+16239insTATATATATATATATATATATATATA TATATATAT	AKAP12	ENSG00000131016.17	transcript	ENST00000402676.7	protein_coding	2/4			chr6	TogoVar
AKAP13_chr15_85375603_85754355	85504503	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03017.hp1 HG03017.hp1	a0002 a0002	a0002c0017 a0002c0017	a0002c0017t0002 a0002c0017t0002	a0002c0017t0002g0161 a0002c0017t0002g0161	1	314	0.0032	35	c.34- others(52): Show c.34-16893_34-16892insAAAAAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	2/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85547394	A A	ATTGCCAG others(28): Show ATTGCCAGTCTATTTTGATAAAGCAAGTCTTACTTC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02258.hp2 HG02886.hp1 others(3): Show HG01243.hp1 HG02258.hp2 HG02886.hp1 HG02976.hp2 HG03041.hp2 HG03139.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0014 a0004c0006t0014	a0004c0006t0014g0077 a0004c0006t0014g0093 a0004c0006t0014g0094 others(3): Show a0004c0006t0014g0077 a0004c0006t0014g0093 a0004c0006t0014g0094 a0004c0006t0014g0214 a0004c0006t0014g0219 a0004c0006t0014g0227	6	314	0.0191	35	c.662 others(52): Show c.662+3441_662+3475dupTGCCAGTCTATTTTGATAAAGCAAGTCT TACTTCT	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	5/36		INFO_REALIGN_3_PRIME	chr15	TogoVar
AKAP13_chr15_85375603_85754355	85613713	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA20752.hp1 NA20752.hp1	a0008 a0008	a0008c0009 a0008c0009	a0008c0009t0009 a0008c0009t0009	a0008c0009t0009g0150 a0008c0009t0009g0150	1	314	0.0032	35	c.416 others(56): Show c.4162-25661_4162-25660insATATATATATATATATATATATAT ATATATATATA	AKAP13	ENSG00000170776.22	transcript	ENST00000394518.7	protein_coding	8/36			chr15	TogoVar
AKAP6_chr14_32324298_32842684	32404711	T T	TATATATA others(28): Show TATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01175.hp2	a0011 a0011	a0011c0016 a0011c0016	a0011c0016t0002 a0011c0016t0002	a0011c0016t0002g0088 a0011c0016t0002g0088	1	154	0.0065	35	c.-34 others(54): Show c.-34-28749_-34-28748insATATATATATATATATATATATATAT ATATATATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	1/13			chr14	TogoVar
AKAP6_chr14_32324298_32842684	32615167	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02165.hp1 HG02165.hp2 HG02451.hp1 others(3): Show HG02165.hp1 HG02165.hp2 HG02451.hp1 HG03704.hp2 NA18983.hp2 NA20752.hp2	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0011	a0001c0001 a0002c0002 a0003c0003 others(3): Show a0001c0001 a0002c0002 a0003c0003 a0003c0005 a0003c0057 a0011c0016	a0001c0001t0038 a0002c0002t0003 a0003c0003t0002 others(3): Show a0001c0001t0038 a0002c0002t0003 a0003c0003t0002 a0003c0005t0002 a0003c0057t0026 a0011c0016t0002	a0001c0001t0038g0038 a0002c0002t0003g0086 a0003c0003t0002g0035 others(3): Show a0001c0001t0038g0038 a0002c0002t0003g0086 a0003c0003t0002g0035 a0003c0005t0002g0053 a0003c0057t0026g0003 a0011c0016t0002g0085	6	154	0.0390	35	c.273 others(56): Show c.2730+14394_2730+14395insAAAAAAAAAAAAAAAAAAAAAAAA AAAAAAAAAAA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	7/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32769037	A A	ATTTTTTT others(28): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18991.hp2 NA20129.hp2 NA18991.hp2 NA20129.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0017 a0001c0001 a0003c0017	a0001c0001t0001 a0003c0017t0002 a0001c0001t0001 a0003c0017t0002	a0001c0001t0001g0134 a0003c0017t0002g0073 a0001c0001t0001g0134 a0003c0017t0002g0073	2	154	0.0130	35	c.337 others(54): Show c.3373-4614_3373-4613insTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTT	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKAP6_chr14_32324298_32842684	32780155	A A	AAACATAT others(28): Show AAACATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0003 a0003	a0003c0017 a0003c0017	a0003c0017t0002 a0003c0017t0002	a0003c0017t0002g0073 a0003c0017t0002g0073	1	154	0.0065	35	c.358 others(54): Show c.3588+6263_3588+6264insACATATATATATATATATATATATAT ATATATATA	AKAP6	ENSG00000151320.11	transcript	ENST00000280979.9	protein_coding	12/13		INFO_REALIGN_3_PRIME	chr14	TogoVar
AKR1D1_chr7_138071459_138123305	138091926	A A	AACCATGA others(28): Show AACCATGAGCCAATAGCTATGTGCATGAAGCTCTGC	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02922.hp2 HG02970.hp1 others(3): Show HG02630.hp2 HG02922.hp2 HG02970.hp1 HG02976.hp2 NA20129.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0036 a0001c0001t0064 a0001c0001t0015 a0001c0001t0036 a0001c0001t0064	a0001c0001t0015g0355 a0001c0001t0015g0356 a0001c0001t0015g0357 others(3): Show a0001c0001t0015g0355 a0001c0001t0015g0356 a0001c0001t0015g0357 a0001c0001t0015g0358 a0001c0001t0036g0109 a0001c0001t0064g0354	6	426	0.0141	35	c.378 others(50): Show c.378+144_378+178dupCTGCACCATGAGCCAATAGCTATGTGCATG AAGCT	AKR1D1	ENSG00000122787.15	transcript	ENST00000242375.8	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
AKT2_chr19_40225317_40290345	40228679	A A	AAAAAAAA others(28): Show AAAAAAAAATATATATATATATATATATCTATATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0122 a0001c0001t0003g0122	1	360	0.0028	35	c.51 others(46): Show c.5192_*5193insAGATATAGATATATATATATATATATATTTTTTT T	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding		1637		chr19	TogoVar
AKT2_chr19_40225317_40290345	40228679	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATCTATATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0296 a0001c0001t0003g0296	1	360	0.0028	35	c.51 others(46): Show c.5192_*5193insAGATATAGATATATATATATATATATATATTTTT T	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding		1637		chr19	TogoVar
AKT2_chr19_40225317_40290345	40228679	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATCTATATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02486.hp2 HG02572.hp2 HG02622.hp2 others(2): Show HG02486.hp2 HG02572.hp2 HG02622.hp2 HG02818.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0009 a0001c0001t0003g0311 a0001c0001t0003g0313 others(1): Show a0001c0001t0003g0009 a0001c0001t0003g0311 a0001c0001t0003g0313 a0001c0001t0003g0314	5	360	0.0139	35	c.51 others(46): Show c.5192_*5193insAGATATAGATATATATATATATATATATATATTT T	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding		1637		chr19	TogoVar
AKT2_chr19_40225317_40290345	40228679	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATCTATATCTATATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0305 a0001c0001t0003g0305	1	360	0.0028	35	c.51 others(46): Show c.5192_*5193insAGATATAGATATAGATATATATATATATATATTT T	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding		1637		chr19	TogoVar
AKT2_chr19_40225317_40290345	40228679	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATCTATATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01884.hp1 HG02257.hp2 HG02965.hp1 others(2): Show HG01884.hp1 HG02257.hp2 HG02965.hp1 HG03471.hp1 NA19057.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0297 a0001c0001t0003g0304 a0001c0001t0003g0308 others(2): Show a0001c0001t0003g0297 a0001c0001t0003g0304 a0001c0001t0003g0308 a0001c0001t0003g0309 a0001c0001t0003g0310	5	360	0.0139	35	c.51 others(46): Show c.5192_*5193insAGATATAGATATATATATATATATATATATATAT T	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding		1637		chr19	TogoVar
AKT2_chr19_40225317_40290345	40228679	A A	AAATATAT others(28): Show AAATATATATATATATATATATCTATATCTATATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp1 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0300 a0001c0001t0033g0300	1	360	0.0028	35	c.51 others(46): Show c.5192_*5193insAGATATAGATATAGATATATATATATATATATAT T	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding		1637		chr19	TogoVar
AKT2_chr19_40225317_40290345	40228679	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATCTATATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03516.hp2 NA19043.hp1 HG03516.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0277 a0001c0001t0003g0312 a0001c0001t0003g0277 a0001c0001t0003g0312	2	360	0.0056	35	c.51 others(46): Show c.5192_*5193insAGATATAGATATATATATATATATATATATATAT A	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding		1637		chr19	TogoVar
AKT2_chr19_40225317_40290345	40228679	A A	ATATATAT others(28): Show ATATATATATATATATATATATCTATATCTATATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18969.hp1 NA18970.hp2 NA18986.hp1 others(1): Show NA18969.hp1 NA18970.hp2 NA18986.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0023 a0001c0001t0003 a0001c0001t0023	a0001c0001t0003g0292 a0001c0001t0003g0294 a0001c0001t0003g0299 others(1): Show a0001c0001t0003g0292 a0001c0001t0003g0294 a0001c0001t0003g0299 a0001c0001t0023g0301	4	360	0.0111	35	c.51 others(46): Show c.5192_*5193insAGATATAGATATAGATATATATATATATATATAT A	AKT2	ENSG00000105221.18	transcript	ENST00000392038.7	protein_coding		1637		chr19	TogoVar
AKT3_chr1_243494724_243855243	243686651	A A	ATATATAT others(28): Show ATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03490.hp1 HG03490.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0208 a0001c0001t0001g0208	1	301	0.0033	35	c.172 others(52): Show c.172+8939_172+8940insATATATATATATATATATATATATATAT ATATATA	AKT3	ENSG00000117020.19	transcript	ENST00000673466.1	protein_coding	3/13			chr1	TogoVar
ALCAM_chr3_105361909_105581900	105368264	A A	AGAGAGAG others(28): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03654.hp2 HG03654.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0310	1	378	0.0027	35	c.73+ others(48): Show c.73+783_73+784insGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA GAG	ALCAM	ENSG00000170017.12	transcript	ENST00000306107.9	protein_coding	1/15			chr3	TogoVar
ALDH16A1_chr19_49448225_49476050	49456197	T T	TCAACCAT others(28): Show TCAACCATCATCAACATTTATCCCAGCGCTGTTTCC	intron_variant intron_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0147 a0002c0002t0001g0147	1	342	0.0029	35	c.91- others(50): Show c.91-2288_91-2254dupCAACCATCATCAACATTTATCCCAGCGCTG TTTCC	ALDH16A1	ENSG00000161618.10	transcript	ENST00000293350.9	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr19	TogoVar
ALDH1L1_chr3_126098570_126185586	126183242	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTCCCCCCCCCTTCCA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0007 a0007	a0007c0010 a0007c0010	a0007c0010t0001 a0007c0010t0001	a0007c0010t0001g0070 a0007c0010t0001g0070	1	338	0.0030	35	c.-27 others(46): Show c.-2791_-2790insTGGAAGGGGGGGGGAAAAAAAAAAAAAAAAAAAA A	ALDH1L1	ENSG00000144908.14	transcript	ENST00000393434.7	protein_coding		2657		chr3	TogoVar
ALLC_chr2_3653200_3707671	3690283	T T	TCCCCCTC others(28): Show TCCCCCTCCCCTCCCCCCTCCCCTCCCCCTCCCCTC	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG00558.hp2 others(16): Show HG00423.hp1 HG00423.hp2 HG00558.hp2 HG01167.hp1 HG01169.hp2 HG01258.hp1 HG02004.hp2 HG02015.hp1 HG02071.hp2 HG02155.hp1 HG02293.hp2 HG02523.hp1 NA18952.hp1 NA18961.hp2 NA18999.hp2 NA19007.hp1 NA19066.hp1 NA19068.hp1 NA19068.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0001 a0001c0001t0005 a0004c0004t0001 others(1): Show a0001c0001t0001 a0001c0001t0005 a0004c0004t0001 a0004c0004t0002	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(13): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0058 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0096 a0001c0001t0005g0097 a0004c0004t0001g0079 a0004c0004t0001g0226 a0004c0004t0002g0184 a0004c0004t0002g0185 a0004c0004t0002g0192 a0004c0004t0002g0206	19	274	0.0693	35	c.512 others(52): Show c.512-5405_512-5371dupTCCCCTCCCCCCTCCCCTCCCCCCTCCC CTCCCCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALLC_chr2_3653200_3707671	3690296	C C	CCCTCCCC others(28): Show CCCTCCCCCTCCCCTCCCCTCCCCCTCCCCTCCCCT	intron_variant intron_variant	MODIFIER	HG04228.hp2 HG04228.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0175 a0002c0002t0002g0175	1	274	0.0037	35	c.512 others(52): Show c.512-5419_512-5418insTCCCCCTCCCCTCCCCTCCCCCTCCCCT CCCCTCC	ALLC	ENSG00000151360.10	transcript	ENST00000252505.4	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr2	TogoVar
ALOXE3_chr17_8090900_8123514	8107961	G G	GAAAGAAA others(28): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	intron_variant intron_variant	MODIFIER	HG02735.hp1 HG02735.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0020 a0002c0003t0001g0020	1	422	0.0024	35	c.168 others(52): Show c.1684+506_1684+507insTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALOXE3_chr17_8090900_8123514	8107965	G G	GAAAGAAA others(28): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAGA	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0360 a0001c0001t0002g0360	1	422	0.0024	35	c.168 others(52): Show c.1684+502_1684+503insTCTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTT	ALOXE3	ENSG00000179148.10	transcript	ENST00000448843.7	protein_coding	13/15			chr17	TogoVar
ALPL_chr1_21504423_21583410	21527015	G G	GTTCTTTT others(28): Show GTTCTTTTCTTTTCTTTTCTTTTCTTTTCTTTTCTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA19043.hp1 HG01109.hp2 NA19043.hp1	a0001 a0002 a0001 a0002	a0001c0019 a0002c0002 a0001c0019 a0002c0002	a0001c0019t0010 a0002c0002t0005 a0001c0019t0010 a0002c0002t0005	a0001c0019t0010g0295 a0002c0002t0005g0126 a0001c0019t0010g0295 a0002c0002t0005g0126	2	370	0.0054	35	c.-10 others(56): Show c.-105+17529_-105+17530insTCTTTTCTTTTCTTTTCTTTTCTT TTCTTTTCTTT	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
ALPL_chr1_21504423_21583410	21561666	C C	CTTTTTTT others(28): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01106.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0267 a0002c0002t0005g0267	1	370	0.0027	35	c.297 others(50): Show c.297+474_297+475insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTT	ALPL	ENSG00000162551.14	transcript	ENST00000374840.8	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr1	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAAAAAT others(28): Show AAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0014 a0001c0001t0003g0014	1	160	0.0063	35	c.-12 others(54): Show c.-121+8132_-121+8133insATATATATATATATATATATATATAT ATATTTTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02109.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0102 a0001c0002t0002g0102	1	160	0.0063	35	c.-12 others(54): Show c.-121+8132_-121+8133insATATATATATATATATATATATATAT ATATATTTT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMBRA1_chr11_46391414_46599023	46585695	A A	AAATATAT others(28): Show AAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0144 a0001c0002t0002g0144	1	160	0.0063	35	c.-12 others(54): Show c.-121+8132_-121+8133insATATATATATATATATATATATATAT ATATATATT	AMBRA1	ENSG00000110497.15	transcript	ENST00000683756.1	protein_coding	1/17			chr11	TogoVar
AMFR_chr16_56356452_56430545	56406552	C C	CAAAAAAA others(28): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0137 a0001c0001t0014g0137	1	356	0.0028	35	c.667 others(52): Show c.667-1309_667-1308insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTT	AMFR	ENSG00000159461.15	transcript	ENST00000290649.10	protein_coding	4/13			chr16	TogoVar
AMOTL2_chr3_134350347_134379447	134351764	A A	AACTATTG others(28): Show AACTATTGATATTATTATATTACGGTGGAACCTAGC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01256.hp2 HG01256.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0035 a0001c0001t0005g0035	1	336	0.0030	35	c.59 others(46): Show c.5940_*5941insGCTAGGTTCCACCGTAATATAATAATATCAATAG T	AMOTL2	ENSG00000114019.15	transcript	ENST00000249883.10	protein_coding		3582		chr3	TogoVar
AMT_chr3_49411778_49427473	49427467	C C	CTTAATCT others(28): Show CTTAATCTTACTCAAACCTACCACCAACATATATAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	358	0.0028	35	c.-50 others(46): Show c.-5018_-5017insCTATATATGTTGGTGGTAGGTTTGAGTAAGATTA A	AMT	ENSG00000145020.16	transcript	ENST00000273588.9	protein_coding		4995		chr3	TogoVar
AMY2A_chr1_103612427_103630780	103619894	T T	TAAAACAT others(28): Show TAAAACATAATGGTTGTACCAATTTACATTCCCACC	intron_variant intron_variant	MODIFIER	HG01070.hp1 HG01516.hp1 HG01884.hp2 others(19): Show HG01070.hp1 HG01516.hp1 HG01884.hp2 HG02145.hp1 HG02258.hp1 HG02717.hp2 HG02818.hp1 HG02818.hp2 HG02895.hp1 HG02896.hp2 HG02922.hp2 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03098.hp2 HG03130.hp1 HG03139.hp1 HG03195.hp2 HG03209.hp1 NA19043.hp1 NA19080.hp1 NA20752.hp2	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0012	a0001c0001 a0001c0002 a0001c0005 others(4): Show a0001c0001 a0001c0002 a0001c0005 a0001c0010 a0002c0003 a0004c0007 a0012c0017	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0010t0001 a0002c0003t0002 a0004c0007t0001 a0012c0017t0002	a0001c0001t0001g0010 a0001c0001t0001g0060 a0001c0001t0001g0061 others(8): Show a0001c0001t0001g0010 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0063 a0001c0002t0001g0018 a0001c0005t0001g0005 a0001c0010t0001g0064 a0002c0003t0002g0017 a0004c0007t0001g0005 a0012c0017t0002g0017	22	312	0.0705	35	c.744 others(50): Show c.744+116_744+117insTAATGGTTGTACCAATTTACATTCCCACCA AAACA	AMY2A	ENSG00000243480.8	transcript	ENST00000414303.7	protein_coding	4/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
ANAPC10_chr4_144989576_145103196	145011336	A A	AAAAATAA others(28): Show AAAAATAAAATAAAATAAAATAAAATAAAATAAAAT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG03927.hp2 HG02602.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0310 a0001c0001t0001g0315 a0001c0001t0001g0310 a0001c0001t0001g0315	2	336	0.0060	35	c.328 others(54): Show c.328-15768_328-15734dupATTTTATTTTATTTTATTTTATTTTA TTTTATTTT	ANAPC10	ENSG00000164162.14	transcript	ENST00000507656.6	protein_coding	4/4			chr4	TogoVar
ANGEL2_chr1_212987182_213020867	212996640	A A	AAAAATAT others(28): Show AAAAATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0150 a0001c0001t0004g0150	1	392	0.0026	35	c.148 others(52): Show c.1483+514_1483+515insATATATATATATATATATATATATATAT ATATTTT	ANGEL2	ENSG00000174606.14	transcript	ENST00000366962.8	protein_coding	8/8			chr1	TogoVar
ANGPT1_chr8_107244482_107502918	107299722	A A	ATAGTTAT others(28): Show ATAGTTATATCTAGATATACTATATATCTAGATATG	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00621.hp2 HG01099.hp1 others(31): Show HG00597.hp2 HG00621.hp2 HG01099.hp1 HG01109.hp2 HG01258.hp2 HG01934.hp2 HG01981.hp1 HG02074.hp1 HG02080.hp1 HG02129.hp2 HG02165.hp1 HG02735.hp2 HG04115.hp2 NA18940.hp2 NA18944.hp1 NA18953.hp1 NA18968.hp1 NA18977.hp2 NA18982.hp2 NA18985.hp2 NA18986.hp2 NA18991.hp1 NA19009.hp2 NA19010.hp1 NA19011.hp1 NA19060.hp1 NA19063.hp2 NA19066.hp2 NA19067.hp1 NA19074.hp1 NA19077.hp1 NA19084.hp2 NA19087.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0015 a0001c0005t0002	a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0021 others(31): Show a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0022 a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0055 a0001c0001t0001g0068 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0188 a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0002g0015 a0001c0001t0002g0064 a0001c0001t0002g0106 a0001c0001t0002g0107 a0001c0001t0002g0111 a0001c0001t0002g0114 a0001c0001t0002g0115 a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0122 a0001c0001t0002g0130 a0001c0001t0002g0132 a0001c0001t0002g0137 a0001c0001t0002g0143 a0001c0001t0002g0149 a0001c0001t0002g0163 a0001c0001t0002g0203 a0001c0001t0002g0212 a0001c0001t0015g0145 a0001c0001t0015g0204 a0001c0005t0002g0113	34	292	0.1164	35	c.936 others(52): Show c.936+3483_936+3517dupCATATCTAGATATATAGTATATCTAGAT ATAACTA	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	5/8			chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107299784	C C	CTAGATAT others(28): Show CTAGATATGTAGTTACATCTAGATATACTATATATT	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	292	0.0034	35	c.936 others(52): Show c.936+3455_936+3456insAATATATAGTATATCTAGATGTAACTAC ATATCTA	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	5/8			chr8	TogoVar
ANGPT1_chr8_107244482_107502918	107370407	A A	AGAAAAAG others(28): Show AGAAAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAG	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0210 a0001c0001t0002g0210	1	292	0.0034	35	c.298 others(54): Show c.298-23311_298-23310insCTTCCTTTCTTTCTTTCTTTCTTTCT TTCTTTTTC	ANGPT1	ENSG00000154188.10	transcript	ENST00000517746.6	protein_coding	1/8			chr8	TogoVar
ANGPT2_chr8_6494632_6568245	6505239	A A	AATATATA others(28): Show AATATATATATATATTCTTATGTATATATAGAATAT	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01361.hp1 HG01884.hp1 others(3): Show HG01243.hp1 HG01361.hp1 HG01884.hp1 HG02451.hp2 HG03225.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0006 a0001c0001t0079 others(1): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0079 a0001c0002t0005	a0001c0001t0001g0079 a0001c0001t0001g0181 a0001c0001t0006g0258 others(3): Show a0001c0001t0001g0079 a0001c0001t0001g0181 a0001c0001t0006g0258 a0001c0001t0006g0276 a0001c0001t0079g0333 a0001c0002t0005g0298	6	336	0.0179	35	c.132 others(54): Show c.1328-1979_1328-1978insATATTCTATATATACATAAGAATATA TATATATAT	ANGPT2	ENSG00000091879.14	transcript	ENST00000629816.3	protein_coding	8/8			chr8	TogoVar
ANGPTL5_chr11_101885674_101921522	101889419	G G	GAAAGAGA others(28): Show GAAAGAGAAAGAAAGAAAAAAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG03195.hp1 others(1): Show HG02895.hp1 HG02897.hp2 HG03195.hp1 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0006 a0001c0001t0001 a0003c0003t0006	a0001c0001t0001g0044 a0001c0001t0001g0196 a0003c0003t0006g0042 a0001c0001t0001g0044 a0001c0001t0001g0196 a0003c0003t0006g0042	4	422	0.0095	35	c.18 others(46): Show c.1859_*1860insTTCTTTCTTTCTTTCTTTTTTCTTTCTTTCTCTT T	ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding		1254		chr11	TogoVar
ANGPTL5_chr11_101885674_101921522	101889419	G G	GAAAGAGA others(28): Show GAAAGAGAAAGAAAGAAAGAAAAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03490.hp2 HG03492.hp2 HG03490.hp2 HG03492.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0043 a0002c0002t0001g0043	2	422	0.0047	35	c.18 others(46): Show c.1859_*1860insTTCTTTCTTTCTTTTTTCTTTCTTTCTTTCTCTT T	ANGPTL5	ENSG00000187151.7	transcript	ENST00000334289.7	protein_coding		1254		chr11	TogoVar

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Search Results (Total: 4618 hits)