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
ARMH3_chr10_101840599_102061173	101935174	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01106.hp1 HG01975.hp1 HG01981.hp2 others(3): Show HG01106.hp1 HG01975.hp1 HG01981.hp2 HG02155.hp2 HG03579.hp2 NA19065.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0007 a0001c0001t0001 a0001c0001t0006 a0001c0001t0007	a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0086 others(3): Show a0001c0001t0001g0055 a0001c0001t0001g0061 a0001c0001t0001g0086 a0001c0001t0001g0089 a0001c0001t0006g0109 a0001c0001t0007g0004	6	262	0.0229	28	c.178 others(47): Show c.1781+4688_1781+4689insATATATATATATATATATATATATAT AT	ARMH3	ENSG00000120029.13	transcript	ENST00000370033.9	protein_coding	23/25			chr10	TogoVar
ARMH4_chr14_57995761_58157213	58094329	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0010 a0002c0005t0010	a0002c0005t0010g0230 a0002c0005t0010g0230	1	258	0.0039	28	c.208 others(47): Show c.2089+2394_2089+2395insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ARMH4	ENSG00000139971.15	transcript	ENST00000267485.7	protein_coding	5/7			chr14	TogoVar
ARNT_chr1_150804713_150881599	150807005	T T	TTCTCTCT others(21): Show TTCTCTCTCTCTCTCTCTCTCTCTCTCTC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0084 a0001c0002t0010g0084	1	326	0.0031	28	c.50 others(39): Show c.5015_*5016insGAGAGAGAGAGAGAGAGAGAGAGAGAGA	ARNT	ENSG00000143437.21	transcript	ENST00000358595.10	protein_coding		2707		chr1	TogoVar
ARPC2_chr2_218212189_218259348	218215618	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00323.hp2 HG02074.hp2 HG02165.hp1 others(1): Show HG00323.hp2 HG02074.hp2 HG02165.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0079 a0001c0001t0001g0159 a0001c0001t0001g0001 a0001c0001t0001g0079 a0001c0001t0001g0159	4	332	0.0121	28	c.-16 others(39): Show c.-1645_-1644insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ARPC2	ENSG00000163466.16	transcript	ENST00000315717.10	protein_coding		1570		chr2	TogoVar
ARPC3_chr12_110429823_110455337	110431990	G G	GATATATC others(21): Show GATATATCTACATATCTATATATAGATCT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03471.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0123 a0001c0001t0001g0123	1	334	0.0030	28	c.31 others(39): Show c.3164_*3165insAGATCTATATATAGATATGTAGATATAT	ARPC3	ENSG00000111229.16	transcript	ENST00000228825.12	protein_coding		2832		chr12	TogoVar
ARPC3_chr12_110429823_110455337	110450831	C C	CAAAAAAA others(21): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp2 HG01175.hp2 NA18952.hp1 others(1): Show HG00423.hp2 HG01175.hp2 NA18952.hp1 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0073 a0001c0001t0001g0128 a0001c0001t0001g0138 others(1): Show a0001c0001t0001g0073 a0001c0001t0001g0128 a0001c0001t0001g0138 a0001c0001t0001g0208	4	334	0.0120	28	c.-57 others(37): Show c.-572_-571insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	ARPC3	ENSG00000111229.16	transcript	ENST00000228825.12	protein_coding		495		chr12	TogoVar
ARPP21_chr3_35634525_35799486	35748067	G G	GAAGGAAG others(21): Show GAAGGAAGGAAGGAAGGAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG00733.hp2 HG01255.hp1 HG02257.hp1 HG00733.hp2 HG01255.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0001 a0001c0005t0001 a0001c0001t0001 a0001c0005t0001	a0001c0001t0001g0046 a0001c0005t0001g0036 a0001c0005t0001g0086 a0001c0001t0001g0046 a0001c0005t0001g0036 a0001c0005t0001g0086	3	266	0.0113	28	c.213 others(47): Show c.2137+4105_2137+4106insGAAGGAAGGAAGGAAGAAAGAAAGAA AG	ARPP21	ENSG00000172995.17	transcript	ENST00000684406.1	protein_coding	19/20		INFO_REALIGN_3_PRIME	chr3	TogoVar
ARRB1_chr11_75255122_75356661	75351057	G G	GTGAGATT others(21): Show GTGAGATTACGTTAAGAATAGATAGTTCT	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00323.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0224 a0001c0001t0005g0224	1	320	0.0031	28	c.20+ others(41): Show c.20+530_20+531insAGAACTATCTATTCTTAACGTAATCTCA	ARRB1	ENSG00000137486.17	transcript	ENST00000420843.7	protein_coding	1/15			chr11	TogoVar
ARSB_chr5_78772209_78990310	78972516	T T	TACACACA others(21): Show TACACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0004 a0001c0007t0004	a0001c0007t0004g0100 a0001c0007t0004g0100	1	360	0.0028	28	c.313 others(45): Show c.313-3352_313-3325dupGTGTGTGTGTGTGTGTGTGTGTGTGTGT	ARSB	ENSG00000113273.17	transcript	ENST00000264914.10	protein_coding	1/7			chr5	TogoVar
ARSD_chrX_2898972_2934339	2908231	T T	TTATCTAT others(21): Show TTATCTATCTATCTATCTATCTATCTATC	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp2 HG02965.hp1 HG01070.hp2 HG01071.hp2 HG02965.hp1	a0005 a0005	a0005c0008 a0005c0008	a0005c0008t0018 a0005c0008t0027 a0005c0008t0018 a0005c0008t0027	a0005c0008t0018g0006 a0005c0008t0027g0027 a0005c0008t0018g0006 a0005c0008t0027g0027	3	344	0.0087	28	c.142 others(45): Show c.1420+489_1420+490insGATAGATAGATAGATAGATAGATAGATA	ARSD	ENSG00000006756.16	transcript	ENST00000381154.6	protein_coding	9/9			chrX	TogoVar
ARSD_chrX_2898972_2934339	2908238	T T	TCTATCTA others(21): Show TCTATCTATCTATCTATCTATCTATCTAC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0008 a0008	a0008c0021 a0008c0021	a0008c0021t0028 a0008c0021t0028	a0008c0021t0028g0112 a0008c0021t0028g0112	1	344	0.0029	28	c.142 others(45): Show c.1420+482_1420+483insGTAGATAGATAGATAGATAGATAGATAG	ARSD	ENSG00000006756.16	transcript	ENST00000381154.6	protein_coding	9/9			chrX	TogoVar
ARSH_chrX_3001546_3039111	3012603	T T	TATATATA others(21): Show TATATATATATATAATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA19003.hp1 HG00673.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0030 a0001c0001t0001g0040 a0001c0001t0001g0030 a0001c0001t0001g0040	2	248	0.0081	28	c.215 others(43): Show c.215-438_215-437insATATATAATATATATATATATAATATAT	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding	2/8		INFO_REALIGN_3_PRIME	chrX	TogoVar
ARSH_chrX_3001546_3039111	3035498	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00280.hp1 HG00438.hp1 HG00609.hp1 others(7): Show HG00280.hp1 HG00438.hp1 HG00609.hp1 NA18975.hp1 NA18983.hp1 NA18985.hp1 NA19055.hp1 NA19057.hp2 NA19066.hp1 NA19075.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0107 others(7): Show a0001c0001t0001g0065 a0001c0001t0001g0077 a0001c0001t0001g0107 a0001c0001t0001g0116 a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0001g0136 a0001c0001t0001g0161 a0001c0001t0001g0192 a0001c0001t0001g0195	10	248	0.0403	28	c.21 others(39): Show c.2113_*2114insTGTGTGTGTGTGTGGAGAGAGAGAGAGA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		1388		chrX	TogoVar
ARSH_chrX_3001546_3039111	3035498	G G	GTGTGTGT others(21): Show GTGTGTGTGTGTGTGTGGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG01099.hp1 HG01256.hp1 others(9): Show HG00738.hp1 HG01099.hp1 HG01256.hp1 HG01952.hp1 HG02280.hp1 HG03669.hp2 HG03834.hp1 HG03942.hp1 HG04228.hp1 NA18970.hp1 NA19000.hp1 NA19012.hp1	a0001 a0011 a0001 a0011	a0001c0001 a0011c0012 a0001c0001 a0011c0012	a0001c0001t0001 a0001c0001t0010 a0011c0012t0001 a0001c0001t0001 a0001c0001t0010 a0011c0012t0001	a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0046 others(9): Show a0001c0001t0001g0033 a0001c0001t0001g0037 a0001c0001t0001g0046 a0001c0001t0001g0049 a0001c0001t0001g0072 a0001c0001t0001g0097 a0001c0001t0001g0108 a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0153 a0001c0001t0010g0155 a0011c0012t0001g0196	12	248	0.0484	28	c.21 others(39): Show c.2113_*2114insTGTGTGTGTGTGTGTGGAGAGAGAGAGA	ARSH	ENSG00000205667.3	transcript	ENST00000381130.3	protein_coding		1388		chrX	TogoVar
ARV1_chr1_230974094_231005733	230999882	G G	GAGATTGC others(21): Show GAGATTGCGTCGAGGACCTAGTATTGTGT	intron_variant intron_variant	MODIFIER	NA19012.hp1 NA19012.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0189 a0001c0001t0001g0189	1	402	0.0025	28	c.5- others(41): Show c.5-256_*5-255insAGATTGCGTCGAGGACCTAGTATTGTGT	ARV1	ENSG00000173409.14	transcript	ENST00000310256.7	protein_coding	5/5			chr1	TogoVar
AS3MT_chr10_102864470_102906899	102889614	G G	GCCTGCCT others(21): Show GCCTGCCTGCCTGCCTGCCTGCCTTCCTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01934.hp2 HG02055.hp1 others(8): Show HG01109.hp2 HG01934.hp2 HG02055.hp1 HG02273.hp2 HG02300.hp2 HG03688.hp2 HG03942.hp1 HG04115.hp1 NA19064.hp2 NA20129.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 others(1): Show a0001c0001t0002 a0001c0001t0006 a0001c0001t0012 a0001c0001t0015	a0001c0001t0002g0003 a0001c0001t0002g0060 a0001c0001t0002g0108 others(7): Show a0001c0001t0002g0003 a0001c0001t0002g0060 a0001c0001t0002g0108 a0001c0001t0002g0109 a0001c0001t0002g0133 a0001c0001t0006g0172 a0001c0001t0006g0173 a0001c0001t0012g0003 a0001c0001t0012g0123 a0001c0001t0015g0059	11	362	0.0304	28	c.886 others(43): Show c.886-927_886-926insGCCTGCCTGCCTGCCTGCCTTCCTTCCT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102889614	G G	GCCTGCCT others(21): Show GCCTGCCTGCCTGCCTGCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG01069.hp1 HG01167.hp1 others(21): Show HG00544.hp1 HG01069.hp1 HG01167.hp1 HG01433.hp2 HG02071.hp2 HG02074.hp1 HG02129.hp1 HG02165.hp1 HG04228.hp1 NA18612.hp2 NA18747.hp1 NA18957.hp1 NA18962.hp1 NA18975.hp2 NA18978.hp1 NA18990.hp1 NA18997.hp2 NA19054.hp1 NA19057.hp1 NA19060.hp2 NA19070.hp2 NA19082.hp2 NA19084.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 others(2): Show a0001c0001t0002 a0001c0001t0007 a0001c0001t0012 a0001c0001t0032 a0001c0004t0007	a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 others(21): Show a0001c0001t0002g0110 a0001c0001t0002g0111 a0001c0001t0002g0112 a0001c0001t0002g0113 a0001c0001t0002g0126 a0001c0001t0002g0139 a0001c0001t0002g0140 a0001c0001t0002g0141 a0001c0001t0002g0147 a0001c0001t0002g0153 a0001c0001t0002g0155 a0001c0001t0002g0160 a0001c0001t0007g0107 a0001c0001t0007g0114 a0001c0001t0007g0116 a0001c0001t0007g0117 a0001c0001t0007g0118 a0001c0001t0007g0120 a0001c0001t0007g0129 a0001c0001t0007g0130 a0001c0001t0007g0138 a0001c0001t0012g0151 a0001c0001t0032g0131 a0001c0004t0007g0162	24	362	0.0663	28	c.886 others(43): Show c.886-927_886-926insGCCTGCCTGCCTGCCTTCCTTCCTTCCT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102889614	G G	GCCTGCCT others(21): Show GCCTGCCTGCCTGCCTTCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0002 a0001c0011t0002	a0001c0011t0002g0132 a0001c0011t0002g0132	1	362	0.0028	28	c.886 others(43): Show c.886-927_886-926insGCCTGCCTGCCTTCCTTCCTTCCTTCCT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAAAAA others(21): Show AAAAAAAAAATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0093 a0001c0001t0005g0093	1	362	0.0028	28	c.55 others(39): Show c.5576_*5577insAAAAAAAAATATATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAAAAA others(21): Show AAAAAAAATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0017 a0001c0002t0004g0017	1	362	0.0028	28	c.55 others(39): Show c.5576_*5577insAAAAAAATATATATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG02056.hp2 HG02683.hp2 others(1): Show HG00408.hp2 HG02056.hp2 HG02683.hp2 NA19005.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0005 a0001c0001t0003 a0001c0001t0005	a0001c0001t0003g0082 a0001c0001t0003g0106 a0001c0001t0005g0006 others(1): Show a0001c0001t0003g0082 a0001c0001t0003g0106 a0001c0001t0005g0006 a0001c0001t0005g0101	4	362	0.0111	28	c.55 others(39): Show c.5576_*5577insAAAAATATATATATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0164 a0001c0001t0006g0164	1	362	0.0028	28	c.55 others(39): Show c.5576_*5577insAAATATATATATATATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
ASAP1_chr8_130047104_130448674	130072790	G G	GGTGTGTG others(21): Show GGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01496.hp2 HG01496.hp2	a0004 a0004	a0004c0012 a0004c0012	a0004c0012t0027 a0004c0012t0027	a0004c0012t0027g0233 a0004c0012t0027g0233	1	308	0.0033	28	c.270 others(47): Show c.2701+3557_2701+3558insACACACACACACACACACACACACAC AC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGCGCGCGCGCGCGCGC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03041.hp2 NA19043.hp2 HG02622.hp2 HG03041.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0254 a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0254	3	308	0.0097	28	c.270 others(47): Show c.2701+3523_2701+3524insGCGCGCGCGCGCGCGCACACACACAC AC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(21): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0017 a0001c0001t0008g0017	1	308	0.0033	28	c.270 others(47): Show c.2701+3523_2701+3524insGCACACACACACACACACACACACAC AC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130101732	A A	ATTTTTTT others(21): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0244 a0001c0008t0001g0244	1	308	0.0033	28	c.240 others(47): Show c.2402-9590_2402-9589insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130153357	A A	ATATATAT others(21): Show ATATATATGTATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	308	0.0033	28	c.101 others(45): Show c.1011-553_1011-552insCATATATATATATATATATACATATATA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	12/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276728	A A	ACACACAC others(21): Show ACACACACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0274 a0002c0002t0003g0274	1	308	0.0033	28	c.187 others(47): Show c.187-39735_187-39734insAGAGAGAGAGAGAGAGAGAGAGTGTG TG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300153	C C	CACACAGA others(21): Show CACACAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0296 a0001c0001t0012g0296	1	308	0.0033	28	c.186 others(47): Show c.186+57863_186+57864insCTCTCTCTCTCTCTCTCTCTCTCTGT GT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300153	C C	CACAGAGA others(21): Show CACAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG06807.hp2 HG02723.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0295 a0001c0001t0012g0298 a0001c0001t0012g0295 a0001c0001t0012g0298	2	308	0.0065	28	c.186 others(47): Show c.186+57863_186+57864insCTCTCTCTCTCTCTCTCTCTCTCTCT GT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300186	A A	AGAGAGAG others(21): Show AGAGAGAGAGAGAGAGAGAGAGAGAGAGC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0001 a0001c0007t0001	a0001c0007t0001g0037 a0001c0007t0001g0037	1	308	0.0033	28	c.186 others(47): Show c.186+57830_186+57831insGCTCTCTCTCTCTCTCTCTCTCTCTC TC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAATA others(21): Show AAAAAATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG04115.hp1 HG04115.hp1	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0001 a0002c0005t0001	a0002c0005t0001g0025 a0002c0005t0001g0025	1	210	0.0048	28	c.127 others(47): Show c.127-25080_127-25079insAAAATATATATATATATATATATATA TA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAATATA others(21): Show AAAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0013 a0001c0013	a0001c0013t0017 a0001c0013t0017	a0001c0013t0017g0045 a0001c0013t0017g0045	1	210	0.0048	28	c.127 others(47): Show c.127-25080_127-25079insAATATATATATATATATATATATATA TA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254254	T T	TATATATA others(21): Show TATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp2 HG03540.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0038 a0001c0003t0004g0038	1	210	0.0048	28	c.127 others(47): Show c.127-25062_127-25061insTATATATATATATATATATACACACA CA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254254	T T	TATATATA others(21): Show TATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0121 a0002c0001t0001g0121	1	210	0.0048	28	c.127 others(47): Show c.127-25062_127-25061insTATATATATATATATATATATACACA CA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP3_chr1_23423563_23489179	23473974	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0024 a0001c0001t0001g0024	1	346	0.0029	28	c.129 others(47): Show c.129+10030_129+10031insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	ASAP3	ENSG00000088280.21	transcript	ENST00000336689.8	protein_coding	1/24			chr1	TogoVar
ASB14_chr3_57263342_57297685	57284088	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0246 a0001c0001t0003g0246	1	336	0.0030	28	c.470 others(43): Show c.470-650_470-649insCACACACACACACACACACACACACACA	ASB14	ENSG00000239388.10	transcript	ENST00000487349.6	protein_coding	5/10			chr3	TogoVar
ASB14_chr3_57263342_57297685	57284094	A A	ATGTGTGT others(21): Show ATGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG02129.hp2 NA18979.hp2 others(4): Show HG01192.hp1 HG02129.hp2 NA18979.hp2 NA18994.hp1 NA19060.hp1 NA19066.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0059 others(4): Show a0001c0001t0001g0049 a0001c0001t0001g0055 a0001c0001t0001g0059 a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0001g0160 a0001c0001t0001g0210	7	336	0.0208	28	c.470 others(43): Show c.470-683_470-656dupCACACACACACACACACACACACACACA	ASB14	ENSG00000239388.10	transcript	ENST00000487349.6	protein_coding	5/10			chr3	TogoVar
ASB15_chr7_123596821_123644481	123637878	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01261.hp1 HG01261.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0027 a0001c0001t0027	a0001c0001t0027g0029 a0001c0001t0027g0029	1	380	0.0026	28	c.91 others(37): Show c.919_*920insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	12/12	920	INFO_REALIGN_3_PRIME	chr7	TogoVar
ASCC1_chr10_72091032_72221276	72198353	G G	GGAGGGGA others(21): Show GGAGGGGAGGGGAGGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA21309.hp1 NA19240.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0062 a0001c0001t0001g0084 a0001c0001t0001g0062 a0001c0001t0001g0084	2	216	0.0093	28	c.311 others(45): Show c.311-1365_311-1364insTCCCCTCCCCTCCCCCTCCCCTCCCCTC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC3_chr6_100503194_100886329	100597809	G G	GAAAAAAA others(21): Show GAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG00558.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0019 a0002c0003t0002g0019	1	314	0.0032	28	c.530 others(47): Show c.5303+4000_5303+4001insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	34/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608097	C C	CACATATA others(21): Show CACATATATATGTATATATATCTATATAT	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0249 a0001c0001t0001g0249	1	314	0.0032	28	c.478 others(47): Show c.4786-1037_4786-1010dupATATATAGATATATATACATATATAT GT	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608118	C C	CTATATAT others(21): Show CTATATATACATATATATGTATATATATG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00558.hp1 HG00609.hp1 others(48): Show HG00423.hp1 HG00558.hp1 HG00609.hp1 HG00621.hp2 HG01099.hp1 HG01192.hp2 HG01358.hp2 HG01496.hp1 HG01928.hp2 HG01993.hp2 HG02004.hp1 HG02074.hp2 HG02129.hp2 HG02273.hp1 HG02280.hp1 HG02300.hp1 HG02523.hp2 HG02572.hp1 HG02896.hp2 HG02897.hp1 HG03139.hp1 HG03654.hp2 HG03688.hp1 HG03834.hp1 NA18906.hp2 NA18940.hp1 NA18941.hp2 NA18963.hp2 NA18964.hp1 NA18971.hp1 NA18977.hp1 NA18981.hp2 NA18982.hp2 NA18983.hp1 NA18986.hp2 NA18991.hp1 NA18994.hp1 NA18998.hp1 NA19004.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp1 NA19012.hp1 NA19058.hp2 NA19060.hp2 NA19065.hp1 NA19070.hp2 NA19077.hp2 NA19079.hp1 NA19084.hp2 NA19085.hp1	a0001 a0004 a0005 others(2): Show a0001 a0004 a0005 a0008 a0017	a0001c0002 a0001c0019 a0001c0020 others(4): Show a0001c0002 a0001c0019 a0001c0020 a0004c0008 a0005c0022 a0008c0010 a0017c0031	a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 others(8): Show a0001c0002t0002 a0001c0002t0003 a0001c0002t0006 a0001c0002t0011 a0001c0002t0013 a0001c0019t0012 a0001c0020t0003 a0004c0008t0003 a0005c0022t0003 a0008c0010t0007 a0017c0031t0003	a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0135 others(48): Show a0001c0002t0002g0086 a0001c0002t0002g0087 a0001c0002t0002g0135 a0001c0002t0003g0075 a0001c0002t0003g0076 a0001c0002t0003g0078 a0001c0002t0003g0079 a0001c0002t0003g0080 a0001c0002t0003g0082 a0001c0002t0003g0097 a0001c0002t0003g0099 a0001c0002t0003g0100 a0001c0002t0003g0101 a0001c0002t0003g0102 a0001c0002t0003g0103 a0001c0002t0003g0104 a0001c0002t0003g0105 a0001c0002t0003g0106 a0001c0002t0003g0107 a0001c0002t0003g0108 a0001c0002t0003g0109 a0001c0002t0003g0112 a0001c0002t0003g0113 a0001c0002t0003g0115 a0001c0002t0003g0116 a0001c0002t0003g0117 a0001c0002t0003g0118 a0001c0002t0003g0122 a0001c0002t0003g0124 a0001c0002t0003g0125 a0001c0002t0003g0126 a0001c0002t0003g0132 a0001c0002t0003g0137 a0001c0002t0003g0140 a0001c0002t0003g0143 a0001c0002t0003g0144 a0001c0002t0003g0145 a0001c0002t0003g0146 a0001c0002t0003g0153 a0001c0002t0006g0181 a0001c0002t0006g0183 a0001c0002t0006g0186 a0001c0002t0011g0003 a0001c0002t0013g0121 a0001c0019t0012g0120 a0001c0020t0003g0134 a0004c0008t0003g0063 a0005c0022t0003g0098 a0008c0010t0007g0002 a0008c0010t0007g0004 a0017c0031t0003g0110	51	314	0.1624	28	c.478 others(47): Show c.4786-1031_4786-1030insCATATATATACATATATATGTATATA TA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608145	T T	TGTATATA others(21): Show TGTATATATACATATATATGTATATATAG	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02965.hp2 HG02818.hp2 HG02965.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0290 a0001c0002t0002g0090 a0001c0002t0001g0290 a0001c0002t0002g0090	2	314	0.0064	28	c.478 others(47): Show c.4786-1058_4786-1057insCTATATATACATATATATGTATATAT AC	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608289	T T	TTATATAT others(21): Show TTATATATACCTTATATATGTATACCTTA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0212 a0001c0001t0001g0212	1	314	0.0032	28	c.478 others(47): Show c.4786-1229_4786-1202dupTAAGGTATACATATATAAGGTATATA TA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608438	T T	TTATATAT others(21): Show TTATATATATATTATATATATATACTTTA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0279 a0001c0001t0001g0279	1	314	0.0032	28	c.478 others(47): Show c.4786-1351_4786-1350insTAAAGTATATATATATAATATATATA TA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608438	T T	TTATATAT others(21): Show TTATATATATTTTATATATATATACTTTA	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01515.hp2 HG01516.hp2 others(8): Show HG01358.hp1 HG01515.hp2 HG01516.hp2 HG01517.hp2 HG01943.hp2 HG02602.hp1 HG02809.hp1 HG03654.hp1 HG04199.hp1 NA19011.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0236 others(8): Show a0001c0001t0001g0229 a0001c0001t0001g0234 a0001c0001t0001g0236 a0001c0001t0001g0240 a0001c0001t0001g0243 a0001c0001t0001g0273 a0001c0001t0001g0274 a0001c0001t0001g0275 a0001c0001t0001g0277 a0001c0001t0001g0282 a0001c0001t0001g0295	11	314	0.0350	28	c.478 others(47): Show c.4786-1378_4786-1351dupTAAAGTATATATATATAAAATATATA TA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608451	A A	ATATATAT others(21): Show ATATATATATACTTTATATATATATACTT	intron_variant intron_variant	MODIFIER	NA19000.hp2 NA19000.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0268 a0001c0001t0001g0268	1	314	0.0032	28	c.478 others(47): Show c.4786-1391_4786-1364dupAAGTATATATATATAAAGTATATATA TA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608490	C C	CTTTATAT others(21): Show CTTTATATATATATACTTTATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01175.hp2 HG01952.hp2 others(4): Show HG00738.hp1 HG01175.hp2 HG01952.hp2 HG01978.hp1 HG02486.hp2 NA18951.hp2 NA19054.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0228 a0001c0001t0001g0251 a0001c0001t0001g0256 others(4): Show a0001c0001t0001g0228 a0001c0001t0001g0251 a0001c0001t0001g0256 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0284 a0001c0001t0001g0304	7	314	0.0223	28	c.478 others(47): Show c.4786-1403_4786-1402insATATATATATAAAGTATATATATATA AA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar
ASCC3_chr6_100503194_100886329	100608546	C C	CTTTATAT others(21): Show CTTTATATATATATACTTTATATATATAT	intron_variant intron_variant	MODIFIER	HG01109.hp2 NA20300.hp1 HG01109.hp2 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0224 a0001c0001t0001g0226 a0001c0001t0001g0224 a0001c0001t0001g0226	2	314	0.0064	28	c.478 others(47): Show c.4786-1486_4786-1459dupATATATATATAAAGTATATATATATA AA	ASCC3	ENSG00000112249.14	transcript	ENST00000369162.7	protein_coding	30/41			chr6	TogoVar

Search by Variant

Search

Search Results (Total: 10000 hits)