Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	chapids	thapids	thapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
AS3MT_chr10_102864470_102906899	102871546	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01243.hp2 HG01243.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0035 a0001c0002t0004g0035	1	29	0.0345	15	c.171 others(30): Show c.171-884_171-870dupAAAAAAAAAAAAAAA	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906274	A A	ATATATAT others(8): Show ATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03491.hp2 HG03491.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0134 a0001c0001t0012g0134	1	335	0.0030	15	c.55 others(26): Show c.5574_*5575insTATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4376		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02300.hp2 NA19043.hp2 HG02300.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0115 a0001c0001t0003g0073 a0001c0001t0002g0115 a0001c0001t0003g0073	2	113	0.0177	15	c.55 others(26): Show c.5576_*5577insAAAAAATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAAAATAT others(8): Show AAAAATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG02071.hp2 HG02165.hp1 others(2): Show HG01099.hp2 HG02071.hp2 HG02165.hp1 NA19009.hp1 NA19030.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0007	a0001c0001t0002g0015 a0001c0001t0003g0086 a0001c0001t0006g0171 others(2): Show a0001c0001t0002g0015 a0001c0001t0003g0086 a0001c0001t0006g0171 a0001c0001t0007g0016 a0001c0001t0007g0120	5	116	0.0431	15	c.55 others(26): Show c.5576_*5577insAAAATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
AS3MT_chr10_102864470_102906899	102906276	A A	AAATATAT others(8): Show AAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 NA19057.hp2 HG02280.hp1 NA19057.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0008 a0001c0001t0003 a0001c0001t0008	a0001c0001t0003g0001 a0001c0001t0008g0058 a0001c0001t0003g0001 a0001c0001t0008g0058	2	113	0.0177	15	c.55 others(26): Show c.5576_*5577insAATATATATATATAT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding		4378		chr10	TogoVar
ASAH1_chr8_18050992_18089107	18075001	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 NA18949.hp2 NA18967.hp2 others(1): Show HG00438.hp2 NA18949.hp2 NA18967.hp2 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 others(1): Show a0001c0001t0004g0065 a0001c0001t0004g0066 a0001c0001t0004g0067 a0001c0001t0004g0068	4	379	0.0106	15	c.125 others(30): Show c.125+539_125+540insAAAAAAAAAAAAAAA	ASAH1	ENSG00000104763.20	transcript	ENST00000637790.2	protein_coding	2/13			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130071011	G G	GGGAGAGA others(8): Show GGGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG04204.hp2 HG04204.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0188 a0001c0001t0002g0188	1	77	0.0130	15	c.270 others(34): Show c.2701+5336_2701+5337insTCTCTCTCTCTCTCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130101732	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp2 NA19240.hp1 NA19240.hp2 HG02109.hp2 NA19240.hp1 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0025 a0001c0007t0007 a0001c0001t0001 a0001c0001t0025 a0001c0007t0007	a0001c0001t0001g0280 a0001c0001t0025g0279 a0001c0007t0007g0001 a0001c0001t0001g0280 a0001c0001t0025g0279 a0001c0007t0007g0001	3	70	0.0429	15	c.240 others(34): Show c.2402-9604_2402-9590dupAAAAAAAAAAAAAAA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130215975	A A	AAAAGGAA others(8): Show AAAAGGAAAGGAAAGG	intron_variant intron_variant	MODIFIER	HG03491.hp1 NA19240.hp1 HG03491.hp1 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0007t0007 a0001c0001t0001 a0001c0007t0007	a0001c0001t0001g0097 a0001c0007t0007g0001 a0001c0001t0001g0097 a0001c0007t0007g0001	2	95	0.0211	15	c.260 others(32): Show c.260-1289_260-1275dupCCTTTCCTTTCCTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	4/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130262416	A A	AAAAAAAA others(8): Show AAAAAAAAAGAGAGAG	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0007 a0001c0005t0007	a0001c0005t0007g0002 a0001c0005t0007g0002	1	216	0.0046	15	c.187 others(34): Show c.187-25423_187-25422insCTCTCTCTTTTTTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAA others(8): Show AAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG01346.hp2 NA18522.hp1 HG01346.hp2 NA18522.hp1	a0001 a0001	a0001c0002 a0001c0004 a0001c0002 a0001c0004	a0001c0002t0003 a0001c0004t0005 a0001c0002t0003 a0001c0004t0005	a0001c0002t0003g0141 a0001c0004t0005g0138 a0001c0002t0003g0141 a0001c0004t0005g0138	2	95	0.0211	15	c.127 others(34): Show c.127-25080_127-25079insAAAAAAAAATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG03579.hp1 HG03579.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0175 a0001c0003t0004g0175	1	94	0.0106	15	c.127 others(34): Show c.127-25080_127-25079insAAAAAAATATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0022 a0002c0001t0001g0022	1	94	0.0106	15	c.127 others(34): Show c.127-25080_127-25079insAAAAATATATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0046 a0001c0003t0001g0046	1	94	0.0106	15	c.127 others(34): Show c.127-25080_127-25079insATATATATATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9270785	A A	ATTTTTTT others(8): Show ATTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01074.hp2 HG01167.hp2 others(7): Show HG00735.hp1 HG01074.hp2 HG01167.hp2 HG01256.hp1 HG01257.hp2 HG02135.hp1 HG04115.hp2 HG04199.hp1 NA19091.hp2 NA21309.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0002c0001 a0002c0005 a0001c0002 a0002c0001 a0002c0005	a0001c0002t0002 a0001c0002t0012 a0002c0001t0001 others(1): Show a0001c0002t0002 a0001c0002t0012 a0002c0001t0001 a0002c0005t0001	a0001c0002t0002g0026 a0001c0002t0002g0055 a0001c0002t0002g0060 others(7): Show a0001c0002t0002g0026 a0001c0002t0002g0055 a0001c0002t0002g0060 a0001c0002t0002g0069 a0001c0002t0002g0177 a0001c0002t0002g0187 a0001c0002t0012g0143 a0002c0001t0001g0012 a0002c0005t0001g0003 a0002c0005t0001g0054	10	32	0.3125	15	c.127 others(32): Show c.127-8521_127-8507dupTTTTTTTTTTTTTTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9286447	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00408.hp1	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0067 a0002c0001t0001g0067	1	65	0.0154	15	c.199 others(32): Show c.199+7059_199+7060insAAATATATATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9286447	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19065.hp1 NA19065.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0006 a0001c0003t0006	a0001c0003t0006g0105 a0001c0003t0006g0105	1	65	0.0154	15	c.199 others(32): Show c.199+7059_199+7060insATATATATATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9286447	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0010 a0001c0004t0005g0010	1	65	0.0154	15	c.199 others(32): Show c.199+7058_199+7059insTATATATATATATAT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	2/27			chr2	TogoVar
ASAP2_chr2_9201812_9410678	9301820	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0013 a0001c0002t0013	a0001c0002t0013g0001 a0001c0002t0013g0001	1	106	0.0094	15	c.345 others(32): Show c.345+4382_345+4396dupTTTTTTTTTTTTTTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	3/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9322518	A A	ATTTTGTG others(8): Show ATTTTGTGGCTCTTTT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG02145.hp1 HG02486.hp2 others(7): Show HG01175.hp2 HG02145.hp1 HG02486.hp2 HG02922.hp1 HG03139.hp2 HG03225.hp2 HG03516.hp2 HG03579.hp2 NA19240.hp2 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0007 a0001c0010 a0001c0003 a0001c0007 a0001c0010	a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 others(4): Show a0001c0003t0001 a0001c0003t0004 a0001c0003t0007 a0001c0003t0016 a0001c0007t0001 a0001c0007t0004 a0001c0010t0018	a0001c0003t0001g0210 a0001c0003t0004g0200 a0001c0003t0007g0170 others(7): Show a0001c0003t0001g0210 a0001c0003t0004g0200 a0001c0003t0007g0170 a0001c0003t0007g0199 a0001c0003t0016g0174 a0001c0007t0001g0030 a0001c0007t0004g0015 a0001c0007t0004g0154 a0001c0007t0004g0203 a0001c0010t0018g0173	10	210	0.0476	15	c.471 others(30): Show c.471-601_471-600insTTGTGGCTCTTTTTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	5/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP3_chr1_23423563_23489179	23467173	C C	CATTATTA others(8): Show CATTATTATTATTATT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0174 a0001c0001t0001g0174	1	281	0.0036	15	c.130 others(34): Show c.130-10994_130-10980dupAATAATAATAATAAT	ASAP3	ENSG00000088280.21	transcript	ENST00000336689.8	protein_coding	1/24			chr1	TogoVar
ASAP3_chr1_23423563_23489179	23473974	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03540.hp1 HG03579.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027 a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0027	3	55	0.0545	15	c.129 others(34): Show c.129+10016_129+10030dupAAAAAAAAAAAAAAA	ASAP3	ENSG00000088280.21	transcript	ENST00000336689.8	protein_coding	1/24			chr1	TogoVar
ASB11_chrX_15276697_15320640	15278635	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp1 HG01071.hp1 HG01123.hp2 others(31): Show HG01070.hp1 HG01071.hp1 HG01123.hp2 HG01256.hp1 HG01346.hp2 HG01361.hp1 HG01361.hp2 HG01496.hp2 HG01516.hp1 HG01516.hp2 HG01517.hp2 HG01884.hp2 HG02129.hp1 HG02451.hp1 HG02523.hp1 HG02523.hp2 HG03491.hp2 HG03540.hp2 HG03834.hp2 NA18942.hp2 NA18946.hp2 NA18954.hp2 NA18960.hp1 NA18971.hp1 NA18988.hp1 NA19001.hp2 NA19057.hp2 NA19063.hp1 NA19074.hp1 NA19079.hp1 NA19081.hp2 NA19083.hp1 NA19086.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0002 a0001c0001t0003	a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0007 others(29): Show a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0007 a0001c0001t0002g0039 a0001c0001t0002g0044 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0052 a0001c0001t0002g0055 a0001c0001t0002g0077 a0001c0001t0002g0080 a0001c0001t0002g0095 a0001c0001t0002g0098 a0001c0001t0002g0100 a0001c0001t0002g0102 a0001c0001t0002g0138 a0001c0001t0002g0157 a0001c0001t0002g0169 a0001c0001t0002g0173 a0001c0001t0002g0233 a0001c0001t0003g0012 a0001c0001t0003g0013 a0001c0001t0003g0075 a0001c0001t0003g0079 a0001c0001t0003g0084 a0001c0001t0003g0090 a0001c0001t0003g0092 a0001c0001t0003g0094 a0001c0001t0003g0096 a0001c0001t0003g0103 a0001c0001t0003g0140 a0001c0001t0003g0147	34	162	0.2099	15	c.48 others(26): Show c.4869_*4870insTTTTTTTTTTTTTTT	ASB11	ENSG00000165192.14	transcript	ENST00000480796.6	protein_coding		3061		chrX	TogoVar
ASB11_chrX_15276697_15320640	15309967	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG00673.hp1 HG01070.hp1 others(17): Show HG00597.hp1 HG00673.hp1 HG01070.hp1 HG01175.hp1 HG01175.hp2 HG02135.hp1 HG02257.hp1 HG03130.hp1 HG03486.hp1 HG03834.hp2 HG04115.hp1 NA18943.hp1 NA18980.hp2 NA18988.hp1 NA18991.hp1 NA18993.hp2 NA19009.hp1 NA19055.hp1 NA19074.hp1 NA19088.hp1	a0001 a0004 a0007 a0001 a0004 a0007	a0001c0001 a0004c0004 a0007c0006 a0001c0001 a0004c0004 a0007c0006	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0004c0004t0008 a0007c0006t0011	a0001c0001t0001g0064 a0001c0001t0002g0003 a0001c0001t0002g0006 others(12): Show a0001c0001t0001g0064 a0001c0001t0002g0003 a0001c0001t0002g0006 a0001c0001t0002g0012 a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0060 a0001c0001t0002g0062 a0001c0001t0002g0063 a0001c0001t0002g0065 a0001c0001t0002g0077 a0001c0001t0003g0012 a0001c0001t0003g0029 a0004c0004t0008g0124 a0007c0006t0011g0061	20	171	0.1170	15	c.181 others(32): Show c.181+5443_181+5457dupTTTTTTTTTTTTTTT	ASB11	ENSG00000165192.14	transcript	ENST00000480796.6	protein_coding	1/6			chrX	TogoVar
ASB13_chr10_5633867_5671595	5652026	C C	CACACACA others(8): Show CACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp1 HG02451.hp2 others(5): Show HG02257.hp2 HG02280.hp1 HG02451.hp2 HG02622.hp2 HG02717.hp1 HG02886.hp2 HG03209.hp2 NA19043.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0005 a0001c0001 a0002c0003 a0003c0005	a0001c0001t0001 a0002c0003t0001 a0002c0003t0015 others(1): Show a0001c0001t0001 a0002c0003t0001 a0002c0003t0015 a0003c0005t0001	a0001c0001t0001g0021 a0001c0001t0001g0077 a0001c0001t0001g0249 others(5): Show a0001c0001t0001g0021 a0001c0001t0001g0077 a0001c0001t0001g0249 a0002c0003t0001g0088 a0002c0003t0001g0106 a0002c0003t0015g0105 a0002c0003t0015g0147 a0003c0005t0001g0252	8	161	0.0497	15	c.232 others(30): Show c.232-664_232-663insTGTGTGTGTGTGTGT	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	2/5			chr10	TogoVar
ASB13_chr10_5633867_5671595	5662560	G G	GGAGAAGA others(8): Show GGAGAAGAGAAGAGAA	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG01168.hp2 HG01169.hp2 others(2): Show HG00438.hp2 HG01168.hp2 HG01169.hp2 NA19004.hp2 NA19006.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0008 a0001c0001t0017	a0001c0001t0002g0097 a0001c0001t0003g0095 a0001c0001t0003g0261 others(2): Show a0001c0001t0002g0097 a0001c0001t0003g0095 a0001c0001t0003g0261 a0001c0001t0008g0039 a0001c0001t0017g0096	5	421	0.0119	15	c.43+ others(30): Show c.43+3948_43+3949insTTCTCTTCTCTTCTC	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar
ASB13_chr10_5633867_5671595	5662565	G G	GGAGAACA others(8): Show GGAGAACAGAAGAGAA	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01074.hp2 HG01516.hp2 others(6): Show HG00741.hp2 HG01074.hp2 HG01516.hp2 HG01517.hp2 HG02145.hp2 HG02622.hp1 HG02922.hp2 HG03195.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0010 a0001c0001t0012 a0001c0001t0014	a0001c0001t0001g0363 a0001c0001t0001g0399 a0001c0001t0002g0029 others(5): Show a0001c0001t0001g0363 a0001c0001t0001g0399 a0001c0001t0002g0029 a0001c0001t0002g0349 a0001c0001t0002g0350 a0001c0001t0010g0364 a0001c0001t0012g0365 a0001c0001t0014g0400	9	122	0.0738	15	c.43+ others(30): Show c.43+3943_43+3944insTTCTCTTCTGTTCTC	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar
ASB13_chr10_5633867_5671595	5662565	G G	GGAGAAGA others(8): Show GGAGAAGAGAAGAGAA	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01255.hp2 HG01257.hp1 others(25): Show HG00738.hp1 HG01255.hp2 HG01257.hp1 HG01346.hp2 HG01884.hp1 HG01884.hp2 HG02080.hp2 HG02257.hp2 HG02735.hp1 HG02735.hp2 NA18522.hp2 NA18612.hp1 NA18747.hp1 NA18939.hp2 NA18940.hp2 NA18942.hp1 NA18948.hp1 NA18975.hp2 NA18998.hp1 NA19002.hp2 NA19006.hp1 NA19007.hp1 NA19012.hp2 NA19055.hp1 NA19070.hp1 NA19091.hp2 NA20129.hp1 NA20300.hp1	a0001 a0002 a0009 a0001 a0002 a0009	a0001c0001 a0001c0013 a0002c0003 others(1): Show a0001c0001 a0001c0013 a0002c0003 a0009c0010	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0022 a0001c0001t0025 a0001c0001t0026 a0001c0013t0001 a0002c0003t0001 a0009c0010t0009	a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0218 others(21): Show a0001c0001t0001g0213 a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0234 a0001c0001t0002g0109 a0001c0001t0003g0212 a0001c0001t0003g0214 a0001c0001t0003g0326 a0001c0001t0003g0327 a0001c0001t0004g0031 a0001c0001t0004g0139 a0001c0001t0004g0149 a0001c0001t0005g0005 a0001c0001t0005g0217 a0001c0001t0007g0020 a0001c0001t0007g0243 a0001c0001t0011g0328 a0001c0001t0022g0112 a0001c0001t0025g0244 a0001c0001t0026g0329 a0001c0013t0001g0215 a0002c0003t0001g0106 a0009c0010t0009g0150	28	141	0.1986	15	c.43+ others(30): Show c.43+3929_43+3943dupTTCTCTTCTCTTCTC	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	1/5			chr10	TogoVar
ASB15_chr7_123596821_123644481	123637878	T T	TAAAAAAA others(8): Show TAAAAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18961.hp1 NA19005.hp2 NA19010.hp1 others(3): Show NA18961.hp1 NA19005.hp2 NA19010.hp1 NA19010.hp2 NA19062.hp1 NA20129.hp1	a0001 a0017 a0001 a0017	a0001c0001 a0017c0016 a0001c0001 a0017c0016	a0001c0001t0014 a0017c0016t0039 a0001c0001t0014 a0017c0016t0039	a0001c0001t0014g0005 a0001c0001t0014g0022 a0001c0001t0014g0023 others(2): Show a0001c0001t0014g0005 a0001c0001t0014g0022 a0001c0001t0014g0023 a0001c0001t0014g0240 a0017c0016t0039g0266	6	92	0.0652	15	c.90 others(24): Show c.905_*919dupAAAAAAAAAAAAAAA	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	12/12	920	INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB16_chr17_44165704_44184084	44182343	T T	TAAATTAG others(8): Show TAAATTAGTCAGAACC	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18950.hp2 NA18950.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	1	360	0.0028	15	c.39 others(26): Show c.3953_*3954insAAATTAGTCAGAACC	ASB16	ENSG00000161664.7	transcript	ENST00000293414.6	protein_coding		3260		chr17	TogoVar
ASB17_chr1_75913873_75937404	75920758	G G	GCTTTTCT others(8): Show GCTTTTCTTTTCTTTT	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG02071.hp2 HG02559.hp1 others(12): Show HG01884.hp1 HG02071.hp2 HG02559.hp1 HG02895.hp1 HG02895.hp2 HG02897.hp2 HG03540.hp1 NA18612.hp1 NA18959.hp2 NA18961.hp1 NA18970.hp1 NA19001.hp1 NA19002.hp2 NA19063.hp1 NA19082.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0007 a0002c0002 a0001c0001 a0001c0007 a0002c0002	a0001c0001t0001 a0001c0007t0001 a0002c0002t0001 a0001c0001t0001 a0001c0007t0001 a0002c0002t0001	a0001c0001t0001g0012 a0001c0001t0001g0118 a0001c0001t0001g0124 others(5): Show a0001c0001t0001g0012 a0001c0001t0001g0118 a0001c0001t0001g0124 a0001c0007t0001g0116 a0002c0002t0001g0029 a0002c0002t0001g0030 a0002c0002t0001g0061 a0002c0002t0001g0062	15	310	0.0484	15	c.681 others(32): Show c.681+1307_681+1321dupAAAAGAAAAGAAAAG	ASB17	ENSG00000154007.7	transcript	ENST00000284142.7	protein_coding	2/2			chr1	TogoVar
ASB18_chr2_236188459_236269406	236202794	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG02698.hp1 HG04115.hp2 others(1): Show HG01358.hp2 HG02698.hp1 HG04115.hp2 NA18947.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0001 a0001c0001t0010	a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0191 others(1): Show a0001c0001t0001g0146 a0001c0001t0001g0152 a0001c0001t0001g0191 a0001c0001t0010g0154	4	133	0.0301	15	c.110 others(34): Show c.1102-6410_1102-6409insATATATATTTTTTTT	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	4/5			chr2	TogoVar
ASB18_chr2_236188459_236269406	236202794	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00438.hp2 HG01433.hp2 others(10): Show HG00423.hp2 HG00438.hp2 HG01433.hp2 HG01515.hp2 HG02015.hp2 HG04204.hp1 NA18966.hp2 NA19010.hp1 NA19012.hp1 NA19063.hp2 NA19077.hp2 NA19084.hp1 NA19085.hp1	a0001 a0013 a0001 a0013	a0001c0001 a0013c0019 a0001c0001 a0013c0019	a0001c0001t0001 a0001c0001t0010 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0010 a0001c0001t0017 a0013c0019t0001	a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0139 others(10): Show a0001c0001t0001g0107 a0001c0001t0001g0109 a0001c0001t0001g0139 a0001c0001t0001g0166 a0001c0001t0001g0167 a0001c0001t0001g0172 a0001c0001t0001g0177 a0001c0001t0001g0187 a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0010g0142 a0001c0001t0017g0068 a0013c0019t0001g0168	13	142	0.0915	15	c.110 others(34): Show c.1102-6410_1102-6409insATATATATATTTTTT	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	4/5			chr2	TogoVar
ASB18_chr2_236188459_236269406	236202794	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp1 NA18946.hp2 NA18983.hp2 others(1): Show HG00621.hp1 NA18946.hp2 NA18983.hp2 NA19003.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0059 a0001c0001t0001g0108 a0002c0002t0001g0054 others(1): Show a0001c0001t0001g0059 a0001c0001t0001g0108 a0002c0002t0001g0054 a0002c0002t0001g0121	4	133	0.0301	15	c.110 others(34): Show c.1102-6410_1102-6409insATATATATATATTTT	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	4/5			chr2	TogoVar
ASB18_chr2_236188459_236269406	236258384	C C	CATGTTCA others(8): Show CATGTTCAAGGTCACA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0188 a0001c0001t0001g0188	1	247	0.0040	15	c.205 others(32): Show c.205+5742_205+5756dupTGTGACCTTGAACAT	ASB18	ENSG00000182177.15	transcript	ENST00000409749.8	protein_coding	1/5			chr2	TogoVar
ASB2_chr14_93929166_93981570	93980570	G G	GTCTCATA others(8): Show GTCTCATACTGTGACA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19009.hp1 NA19009.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0104 a0001c0003t0001g0104	1	372	0.0027	15	c.-42 others(26): Show c.-4211_-4210insTGTCACAGTATGAGA	ASB2	ENSG00000100628.12	transcript	ENST00000555019.6	protein_coding		4001		chr14	TogoVar
ASB3_chr2_53664980_53791953	53674844	A A	AAAATAAG others(8): Show AAAATAAGTAACTCTG	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA19009.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0171 a0001c0001t0003g0171	1	348	0.0029	15	c.137 others(34): Show c.1370-4155_1370-4154insCAGAGTTACTTATTT	ASB3	ENSG00000115239.24	transcript	ENST00000263634.8	protein_coding	9/9			chr2	TogoVar
ASB3_chr2_53664980_53791953	53744384	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0150 a0001c0001t0001g0150	1	305	0.0033	15	c.355 others(32): Show c.355+6398_355+6399insTTTTTTTTTTTTTTT	ASB3	ENSG00000115239.24	transcript	ENST00000263634.8	protein_coding	3/9			chr2	TogoVar
ASB3_chr2_53664980_53791953	53790069	T T	TCAGGTGA others(8): Show TCAGGTGAGGAGAGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	348	0.0029	15	c.-32 others(26): Show c.-3263_-3262insTACTCTCCTCACCTG	ASB3	ENSG00000115239.24	transcript	ENST00000263634.8	protein_coding		3117		chr2	TogoVar
ASB5_chr4_176208673_176274222	176218253	T T	TATATATA others(8): Show TATATATATTTGTATG	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG02258.hp1 HG02896.hp1 others(6): Show HG01515.hp2 HG02258.hp1 HG02896.hp1 HG02897.hp2 HG03098.hp1 HG03486.hp2 NA18973.hp2 NA18998.hp1 NA19078.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0026 a0001c0002t0001g0086 a0001c0002t0001g0087 others(6): Show a0001c0002t0001g0026 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0254 a0001c0002t0001g0277 a0001c0002t0001g0282 a0001c0002t0001g0283 a0001c0002t0001g0295 a0001c0002t0001g0296	9	317	0.0284	15	c.671 others(32): Show c.671-1245_671-1244insCATACAAATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176218280	T T	TATATATA others(8): Show TATATATATTTGTATG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18947.hp2 NA18963.hp2 others(6): Show NA18943.hp1 NA18947.hp2 NA18963.hp2 NA18964.hp1 NA19000.hp1 NA19002.hp1 NA19057.hp1 NA19081.hp2 NA19089.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0262 others(4): Show a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0262 a0001c0002t0001g0265 a0001c0002t0001g0268 a0001c0002t0001g0281 a0001c0002t0001g0288	9	392	0.0230	15	c.671 others(32): Show c.671-1272_671-1271insCATACAAATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176218886	T T	TATATATA others(8): Show TATATATATTTGTATG	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0050 a0001c0002t0003g0050	1	408	0.0025	15	c.671 others(32): Show c.671-1892_671-1878dupCATACAAATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176218980	T T	TATATATA others(8): Show TATATATATTTGTATG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG03942.hp1 HG00735.hp1 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0047 a0001c0002t0003g0052 a0001c0002t0003g0047 a0001c0002t0003g0052	2	408	0.0049	15	c.671 others(32): Show c.671-1986_671-1972dupCATACAAATATATAT	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176219074	T T	TTTGTATG others(8): Show TTTGTATGATATATAA	intron_variant intron_variant	MODIFIER	NA18984.hp1 NA18984.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0250 a0001c0002t0001g0250	1	407	0.0025	15	c.671 others(32): Show c.671-2066_671-2065insTTATATATCATACAA	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	5/6			chr4	TogoVar
ASB5_chr4_176208673_176274222	176231843	T T	TCAAAACA others(8): Show TCAAAACAAAACAAAA	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	5	0.2000	15	c.197 others(32): Show c.197-6517_197-6503dupTTTTGTTTTGTTTTG	ASB5	ENSG00000164122.9	transcript	ENST00000296525.7	protein_coding	1/6			chr4	TogoVar
ASB7_chr15_100597589_100656701	100600551	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG02615.hp1 HG02922.hp1 others(1): Show HG01109.hp1 HG02615.hp1 HG02922.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0001 a0001c0001t0002 a0001c0001t0004	a0001c0001t0001g0167 a0001c0001t0002g0012 a0001c0001t0002g0163 others(1): Show a0001c0001t0001g0167 a0001c0001t0002g0012 a0001c0001t0002g0163 a0001c0001t0004g0205	4	48	0.0833	15	c.-27 others(26): Show c.-2768_-2767insAAAAAAAAAAAAAAA	ASB7	ENSG00000183475.13	transcript	ENST00000332783.12	protein_coding		2037		chr15	TogoVar
ASB8_chr12_48142789_48162515	48158545	T T	TTTATTAT others(8): Show TTTATTATTATTATTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00558.hp1 HG02080.hp1 HG02602.hp2 others(6): Show HG00558.hp1 HG02080.hp1 HG02602.hp2 HG02965.hp2 NA18973.hp2 NA18977.hp2 NA18992.hp2 NA18999.hp1 NA19001.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0089 a0001c0001t0004g0032	9	44	0.2045	15	c.-11 others(26): Show c.-1135_-1121dupTAATAATAATAATAA	ASB8	ENSG00000177981.11	transcript	ENST00000317697.8	protein_coding		1031		chr12	TogoVar
ASCC1_chr10_72091032_72221276	72198285	T T	TGGGGGGG others(8): Show TGGGGGGGAGGGGGAG	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG06807.hp1 HG02895.hp1 HG06807.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0001 a0003c0003t0002 a0001c0001t0001 a0003c0003t0002	a0001c0001t0001g0002 a0003c0003t0002g0001 a0001c0001t0001g0002 a0003c0003t0002g0001	2	184	0.0109	15	c.311 others(32): Show c.311-1297_311-1296insCTCCCCCTCCCCCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC1_chr10_72091032_72221276	72198365	G G	GGGGAGGG others(8): Show GGGGAGGGGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG01884.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0057 a0001c0001t0002g0057	1	171	0.0058	15	c.311 others(32): Show c.311-1377_311-1376insTCCCCCTCCCCTCCC	ASCC1	ENSG00000138303.19	transcript	ENST00000672957.1	protein_coding	4/9			chr10	TogoVar
ASCC2_chr22_29783611_29843274	29838203	T T	TGCCGCCG others(8): Show TGCCGCCGCCGCCGCC	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG00423.hp1 HG01070.hp1 HG01934.hp1 others(15): Show HG00423.hp1 HG01070.hp1 HG01934.hp1 HG01978.hp1 HG02080.hp2 HG02132.hp1 HG02145.hp2 HG02735.hp2 HG03516.hp2 NA18942.hp1 NA18945.hp2 NA18946.hp1 NA18948.hp2 NA18956.hp2 NA18985.hp2 NA19005.hp1 NA19009.hp1 NA19054.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0004c0004 a0001c0001 a0004c0004	a0001c0001t0005 a0004c0004t0005 a0001c0001t0005 a0004c0004t0005	a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 others(15): Show a0001c0001t0005g0048 a0001c0001t0005g0049 a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0052 a0001c0001t0005g0061 a0004c0004t0005g0047 a0004c0004t0005g0053 a0004c0004t0005g0054 a0004c0004t0005g0055 a0004c0004t0005g0056 a0004c0004t0005g0057 a0004c0004t0005g0058 a0004c0004t0005g0059 a0004c0004t0005g0060 a0004c0004t0005g0062 a0004c0004t0005g0063 a0004c0004t0005g0064	18	166	0.1084	15	c.-58 others(22): Show c.-58_-44dupGGCGGCGGCGGCGGC	ASCC2	ENSG00000100325.15	transcript	ENST00000307790.8	protein_coding	1/20	5879		chr22	TogoVar

Search by Variant

Search

Search Results