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
SCLT1_chr4_128878993_129098539	128975040	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 NA18965.hp1 HG03139.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0206 a0001c0001t0001g0269 a0001c0001t0001g0206 a0001c0001t0001g0269	2	288	0.0069	26	c.687 others(43): Show c.687-4573_687-4572insAAAAAAAAAAAAAAAAAAAAAAAAAA	SCLT1	ENSG00000151466.12	transcript	ENST00000281142.10	protein_coding	9/20			chr4	TogoVar
SCMH1_chr1_41022202_41247306	41087937	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	NA19009.hp2 NA21309.hp1 NA19009.hp2 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0226 a0001c0001t0001g0161 a0001c0001t0001g0226	2	304	0.0066	26	c.746 others(45): Show c.746-12512_746-12487dupACACACACACACACACACACACACAC	SCMH1	ENSG00000010803.17	transcript	ENST00000695335.1	protein_coding	8/15			chr1	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp1 HG01175.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0007 a0001c0003t0007	a0001c0003t0007g0047 a0001c0003t0007g0047	1	250	0.0040	26	c.-59 others(43): Show c.-59-5837_-59-5836insATATATATATTTTTTTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(19): Show AAAAAAAAAAAAAAAATATATATATAT	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0084 a0001c0001t0010g0084	1	250	0.0040	26	c.-59 others(43): Show c.-59-5837_-59-5836insATATATATATATTTTTTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(19): Show AAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01516.hp1 HG01516.hp1	a0002 a0002	a0002c0006 a0002c0006	a0002c0006t0009 a0002c0006t0009	a0002c0006t0009g0032 a0002c0006t0009g0032	1	250	0.0040	26	c.-59 others(43): Show c.-59-5837_-59-5836insATATATATATATATATTTTTTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCML4_chr6_107697154_107829313	107778222	A A	AAAAAAAA others(19): Show AAAAAAAATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0008 a0001c0002t0010g0008	1	250	0.0040	26	c.-59 others(43): Show c.-59-5837_-59-5836insATATATATATATATATATATTTTTTT	SCML4	ENSG00000146285.15	transcript	ENST00000369020.8	protein_coding	1/7			chr6	TogoVar
SCN10A_chr3_38691807_38821217	38737832	C C	CTTTCTTT others(19): Show CTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG02258.hp2 HG02818.hp1 others(6): Show HG00438.hp2 HG02258.hp2 HG02818.hp1 NA18906.hp1 NA18939.hp1 NA18941.hp2 NA19030.hp1 NA19057.hp2 NA19240.hp1	a0004 a0005 a0004 a0005	a0004c0006 a0005c0009 a0005c0011 others(1): Show a0004c0006 a0005c0009 a0005c0011 a0005c0013	a0004c0006t0001 a0005c0009t0002 a0005c0009t0003 others(2): Show a0004c0006t0001 a0005c0009t0002 a0005c0009t0003 a0005c0011t0001 a0005c0013t0001	a0004c0006t0001g0070 a0004c0006t0001g0168 a0004c0006t0001g0212 others(6): Show a0004c0006t0001g0070 a0004c0006t0001g0168 a0004c0006t0001g0212 a0005c0009t0002g0044 a0005c0009t0002g0104 a0005c0009t0003g0003 a0005c0011t0001g0087 a0005c0011t0001g0141 a0005c0013t0001g0060	9	372	0.0242	26	c.228 others(45): Show c.2280+1682_2280+1683insAAGAAAGAAAGAAAGAAAGAAAGAAA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	15/27			chr3	TogoVar
SCN10A_chr3_38691807_38821217	38746063	G G	GTGTATAT others(19): Show GTGTATATATATATGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	HG01099.hp2 HG01175.hp1 HG01516.hp1 others(4): Show HG01099.hp2 HG01175.hp1 HG01516.hp1 HG02004.hp1 HG03017.hp1 NA18993.hp1 NA19081.hp1	a0002 a0002	a0002c0001 a0002c0015 a0002c0001 a0002c0015	a0002c0001t0001 a0002c0015t0001 a0002c0001t0001 a0002c0015t0001	a0002c0001t0001g0179 a0002c0001t0001g0199 a0002c0001t0001g0208 others(4): Show a0002c0001t0001g0179 a0002c0001t0001g0199 a0002c0001t0001g0208 a0002c0001t0001g0219 a0002c0001t0001g0235 a0002c0001t0001g0241 a0002c0015t0001g0178	7	372	0.0188	26	c.186 others(45): Show c.1868-3535_1868-3534insTATATACACACACATATATATATACA	SCN10A	ENSG00000185313.9	transcript	ENST00000449082.3	protein_coding	13/27			chr3	TogoVar
SCN11A_chr3_38840764_39056944	38929131	G G	GCGCGCGC others(19): Show GCGCGCGCGCGCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0195 a0001c0002t0004g0195	1	314	0.0032	26	c.489 others(43): Show c.489-2201_489-2200insTGTGTGTGTGTGTGTGCGCGCGCGCG	SCN11A	ENSG00000168356.13	transcript	ENST00000302328.9	protein_coding	7/29			chr3	TogoVar
SCN1A_chr2_165980813_166133020	166050613	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02155.hp2 HG02683.hp2 HG01884.hp2 HG02155.hp2 HG02683.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0012 a0001c0001t0017 a0001c0001t0001 a0001c0001t0012 a0001c0001t0017	a0001c0001t0001g0049 a0001c0001t0012g0003 a0001c0001t0017g0056 a0001c0001t0001g0049 a0001c0001t0012g0003 a0001c0001t0017g0056	3	356	0.0084	26	c.964 others(43): Show c.964+1105_964+1106insTATATATATATATATATATATATATA	SCN1A	ENSG00000144285.23	transcript	ENST00000674923.1	protein_coding	9/28			chr2	TogoVar
SCN2A_chr2_165234414_165397304	165291575	T T	TTCTCTCT others(19): Show TTCTCTCTCTCTCTCTCTCTCTCTCTC	intron_variant intron_variant	MODIFIER	NA18940.hp1 NA18940.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0019 a0001c0001t0001g0019	1	358	0.0028	26	c.-51 others(43): Show c.-51-4173_-51-4172insCTCTCTCTCTCTCTCTCTCTCTCTCT	SCN2A	ENSG00000136531.19	transcript	ENST00000375437.7	protein_coding	1/26		INFO_REALIGN_3_PRIME	chr2	TogoVar
SCN2B_chr11_118157806_118181639	118162086	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0030 a0001c0001t0010g0030	1	450	0.0022	26	c.48 others(37): Show c.4800_*4801insCTCTCTCTCTCTCTCTCTCTCTCTCT	SCN2B	ENSG00000149575.9	transcript	ENST00000278947.6	protein_coding		719		chr11	TogoVar
SCN3B_chr11_123624188_123659624	123625973	A A	AGAGAGAG others(19): Show AGAGAGAGAGAGAGAGAGAGAGAGATC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03942.hp2 NA18950.hp1 HG03942.hp2 NA18950.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0124 a0001c0001t0001g0128 a0001c0001t0001g0124 a0001c0001t0001g0128	2	450	0.0044	26	c.78 others(37): Show c.7825_*7826insGATCTCTCTCTCTCTCTCTCTCTCTC	SCN3B	ENSG00000166257.10	transcript	ENST00000299333.8	protein_coding		3214		chr11	TogoVar
SCN5A_chr3_38543062_38654687	38555159	A A	AACACACA others(19): Show AACACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02145.hp2 HG03490.hp2 HG02145.hp2 HG03490.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0027 a0001c0001 a0003c0027	a0001c0001t0004 a0003c0027t0004 a0001c0001t0004 a0003c0027t0004	a0001c0001t0004g0292 a0003c0027t0004g0053 a0001c0001t0004g0292 a0003c0027t0004g0053	2	340	0.0059	26	c.454 others(43): Show c.4542+471_4542+496dupGTGTGTGTGTGTGTGTGTGTGTGTGT	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	26/27			chr3	TogoVar
SCN5A_chr3_38543062_38654687	38585662	G G	GGTGTGTG others(19): Show GGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00140.hp1 HG00423.hp1 HG00438.hp1 others(77): Show HG00140.hp1 HG00423.hp1 HG00438.hp1 HG00544.hp1 HG00544.hp2 HG00558.hp1 HG00597.hp1 HG00609.hp1 HG00673.hp2 HG00738.hp1 HG01081.hp1 HG01081.hp2 HG01106.hp2 HG01175.hp2 HG01243.hp2 HG01256.hp2 HG01433.hp2 HG01884.hp2 HG01891.hp1 HG02109.hp1 HG02109.hp2 HG02129.hp1 HG02165.hp1 HG02280.hp2 HG02523.hp1 HG02735.hp2 HG02809.hp1 HG02818.hp2 HG02886.hp2 HG02895.hp2 HG02896.hp2 HG02922.hp1 HG02976.hp1 HG03209.hp1 HG03486.hp2 HG03490.hp1 HG03492.hp2 HG03540.hp2 HG03654.hp2 HG03669.hp2 HG03688.hp1 HG03834.hp2 HG04115.hp2 NA18747.hp1 NA18906.hp2 NA18939.hp1 NA18942.hp2 NA18945.hp1 NA18946.hp2 NA18948.hp1 NA18950.hp2 NA18951.hp2 NA18955.hp1 NA18956.hp2 NA18959.hp2 NA18963.hp1 NA18966.hp2 NA18967.hp1 NA18975.hp1 NA18975.hp2 NA18982.hp2 NA18986.hp2 NA18992.hp2 NA18993.hp2 NA18999.hp2 NA19000.hp2 NA19002.hp1 NA19002.hp2 NA19007.hp1 NA19012.hp1 NA19043.hp1 NA19043.hp2 NA19057.hp2 NA19065.hp2 NA19066.hp2 NA19070.hp2 NA19082.hp1 NA19083.hp1 NA20805.hp2 NA21309.hp2	a0001 a0002 a0012 others(3): Show a0001 a0002 a0012 a0017 a0018 a0024	a0001c0001 a0001c0002 a0001c0003 others(15): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0008 a0001c0012 a0001c0050 a0002c0006 a0002c0007 a0002c0059 a0002c0061 a0002c0062 a0002c0064 a0002c0065 a0012c0037 a0017c0063 a0018c0057 a0024c0058	a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 others(28): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0005 a0001c0001t0006 a0001c0001t0027 a0001c0002t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0004 a0001c0003t0005 a0001c0003t0009 a0001c0004t0001 a0001c0008t0002 a0001c0012t0001 a0001c0050t0003 a0002c0006t0003 a0002c0007t0002 a0002c0007t0003 a0002c0007t0004 a0002c0007t0018 a0002c0007t0025 a0002c0059t0002 a0002c0061t0001 a0002c0062t0008 a0002c0064t0001 a0002c0065t0002 a0012c0037t0002 a0017c0063t0001 a0018c0057t0001 a0024c0058t0002	a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0223 others(76): Show a0001c0001t0002g0020 a0001c0001t0002g0033 a0001c0001t0002g0223 a0001c0001t0002g0309 a0001c0001t0003g0052 a0001c0001t0003g0158 a0001c0001t0003g0159 a0001c0001t0003g0179 a0001c0001t0003g0185 a0001c0001t0003g0197 a0001c0001t0003g0226 a0001c0001t0003g0245 a0001c0001t0003g0308 a0001c0001t0004g0144 a0001c0001t0004g0176 a0001c0001t0004g0317 a0001c0001t0004g0333 a0001c0001t0005g0003 a0001c0001t0005g0065 a0001c0001t0006g0172 a0001c0001t0027g0193 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0149 a0001c0002t0001g0150 a0001c0002t0001g0164 a0001c0002t0001g0174 a0001c0002t0001g0299 a0001c0002t0001g0300 a0001c0002t0001g0304 a0001c0003t0002g0067 a0001c0003t0002g0297 a0001c0003t0003g0070 a0001c0003t0003g0076 a0001c0003t0003g0078 a0001c0003t0003g0086 a0001c0003t0003g0099 a0001c0003t0003g0100 a0001c0003t0003g0101 a0001c0003t0003g0102 a0001c0003t0003g0103 a0001c0003t0003g0294 a0001c0003t0003g0298 a0001c0003t0004g0079 a0001c0003t0004g0088 a0001c0003t0005g0295 a0001c0003t0009g0006 a0001c0004t0001g0080 a0001c0004t0001g0081 a0001c0004t0001g0082 a0001c0004t0001g0089 a0001c0004t0001g0095 a0001c0004t0001g0113 a0001c0004t0001g0202 a0001c0004t0001g0208 a0001c0004t0001g0296 a0001c0008t0002g0134 a0001c0012t0001g0032 a0001c0050t0003g0287 a0002c0006t0003g0136 a0002c0007t0002g0011 a0002c0007t0002g0129 a0002c0007t0003g0046 a0002c0007t0003g0190 a0002c0007t0003g0243 a0002c0007t0003g0244 a0002c0007t0004g0186 a0002c0007t0004g0187 a0002c0007t0018g0152 a0002c0007t0025g0220 a0002c0059t0002g0035 a0002c0061t0001g0057 a0002c0062t0008g0013 a0002c0064t0001g0010 a0002c0065t0002g0130 a0012c0037t0002g0051 a0017c0063t0001g0198 a0018c0057t0001g0093 a0024c0058t0002g0315	80	340	0.2353	26	c.278 others(41): Show c.2787+28_2787+29insACACACACACACACACACACACACAC	SCN5A	ENSG00000183873.18	transcript	ENST00000413689.6	protein_coding	16/27			chr3	TogoVar
SCN7A_chr2_166398573_166499249	166413981	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01109.hp2 HG02083.hp1 others(8): Show HG00609.hp2 HG01109.hp2 HG02083.hp1 HG02630.hp1 HG03041.hp1 HG03540.hp1 HG03579.hp2 HG04199.hp1 NA18941.hp1 NA18942.hp1 NA19064.hp2	a0001 a0003 a0008 others(1): Show a0001 a0003 a0008 a0027	a0001c0001 a0001c0036 a0003c0003 others(2): Show a0001c0001 a0001c0036 a0003c0003 a0008c0010 a0027c0032	a0001c0001t0001 a0001c0001t0004 a0001c0036t0001 others(3): Show a0001c0001t0001 a0001c0001t0004 a0001c0036t0001 a0003c0003t0001 a0008c0010t0001 a0027c0032t0008	a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0100 others(8): Show a0001c0001t0001g0077 a0001c0001t0001g0082 a0001c0001t0001g0100 a0001c0001t0001g0115 a0001c0001t0001g0335 a0001c0001t0001g0337 a0001c0001t0004g0046 a0001c0036t0001g0117 a0003c0003t0001g0125 a0008c0010t0001g0104 a0027c0032t0008g0371	11	394	0.0279	26	c.341 others(43): Show c.3415-861_3415-860insTATATATATATATATATATATATATA	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166414002	T T	TATATATA others(19): Show TATATATATATATATATATATATATAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0014 a0003c0003t0014	a0003c0003t0014g0209 a0003c0003t0014g0209	1	394	0.0025	26	c.341 others(43): Show c.3415-882_3415-881insTTATATATATATATATATATATATAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166414853	T T	TATAATAT others(19): Show TATAATATATAATACATATTTTATAGG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG00609.hp2 HG00642.hp2 others(37): Show HG00140.hp2 HG00609.hp2 HG00642.hp2 HG00738.hp1 HG01071.hp1 HG01081.hp1 HG01106.hp1 HG01109.hp1 HG01168.hp2 HG01255.hp1 HG01358.hp2 HG01928.hp1 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01978.hp2 HG01981.hp2 HG02027.hp2 HG02040.hp2 HG02135.hp2 HG02273.hp1 HG02683.hp1 HG02698.hp2 HG03017.hp2 HG03490.hp2 HG03491.hp2 HG03492.hp2 HG03704.hp1 HG03927.hp2 HG03942.hp1 HG04115.hp2 HG04184.hp2 NA18941.hp1 NA18948.hp1 NA18964.hp1 NA18983.hp1 NA19011.hp1 NA19060.hp1 NA19066.hp2 NA19091.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0012 a0001c0001t0034	a0001c0001t0001g0015 a0001c0001t0001g0296 a0001c0001t0001g0297 others(36): Show a0001c0001t0001g0015 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0001g0302 a0001c0001t0001g0303 a0001c0001t0001g0304 a0001c0001t0001g0306 a0001c0001t0001g0307 a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 a0001c0001t0001g0312 a0001c0001t0001g0313 a0001c0001t0001g0314 a0001c0001t0001g0318 a0001c0001t0001g0319 a0001c0001t0001g0320 a0001c0001t0001g0324 a0001c0001t0001g0325 a0001c0001t0001g0326 a0001c0001t0001g0327 a0001c0001t0001g0328 a0001c0001t0001g0329 a0001c0001t0001g0331 a0001c0001t0001g0332 a0001c0001t0001g0333 a0001c0001t0001g0334 a0001c0001t0001g0335 a0001c0001t0001g0336 a0001c0001t0001g0337 a0001c0001t0001g0339 a0001c0001t0001g0340 a0001c0001t0003g0305 a0001c0001t0003g0311 a0001c0001t0003g0330 a0001c0001t0012g0321 a0001c0001t0012g0322 a0001c0001t0012g0323 a0001c0001t0034g0338	40	394	0.1015	26	c.341 others(45): Show c.3415-1733_3415-1732insCCTATAAAATATGTATTATATATTAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166414853	T T	TATAATAT others(19): Show TATAATATATAATATATATTATATAGG	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG01943.hp1 HG02145.hp2 HG01175.hp2 HG01943.hp1 HG02145.hp2	a0005 a0007 a0019 a0005 a0007 a0019	a0005c0005 a0007c0007 a0019c0023 a0005c0005 a0007c0007 a0019c0023	a0005c0005t0001 a0007c0007t0002 a0019c0023t0008 a0005c0005t0001 a0007c0007t0002 a0019c0023t0008	a0005c0005t0001g0083 a0007c0007t0002g0271 a0019c0023t0008g0079 a0005c0005t0001g0083 a0007c0007t0002g0271 a0019c0023t0008g0079	3	394	0.0076	26	c.341 others(45): Show c.3415-1758_3415-1733dupCCTATATAATATATATTATATATTAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	21/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166475093	C C	CGTATATA others(19): Show CGTATATATGTATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03579.hp2 HG03471.hp1 HG03579.hp2	a0026 a0027 a0026 a0027	a0026c0035 a0027c0032 a0026c0035 a0027c0032	a0026c0035t0008 a0027c0032t0008 a0026c0035t0008 a0027c0032t0008	a0026c0035t0008g0372 a0027c0032t0008g0371 a0026c0035t0008g0372 a0027c0032t0008g0371	2	394	0.0051	26	c.235 others(41): Show c.235-750_235-749insATATATATATATATATACATATATAC	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	3/25			chr2	TogoVar
SCN7A_chr2_166398573_166499249	166475123	T T	TATATATG others(19): Show TATATATGTATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0025 a0025	a0025c0033 a0025c0033	a0025c0033t0004 a0025c0033t0004	a0025c0033t0004g0029 a0025c0033t0004g0029	1	394	0.0025	26	c.235 others(41): Show c.235-780_235-779insGTATATATATATATATATACATATAT	SCN7A	ENSG00000136546.17	transcript	ENST00000643258.1	protein_coding	3/25			chr2	TogoVar
SCNN1G_chr16_23177745_23221883	23204302	T T	TATATATA others(19): Show TATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0116 a0001c0001t0005g0116	1	320	0.0031	26	c.107 others(45): Show c.1078-5423_1078-5422insCATATATATATATATATATATATATA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204332	T T	TACATATA others(19): Show TACATATATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0096 a0001c0003t0002g0096	1	320	0.0031	26	c.107 others(45): Show c.1078-5417_1078-5416insCATATATATATATATATATATATAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCNN1G_chr16_23177745_23221883	23204334	T T	TATATATA others(19): Show TATATATATATATAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0248 a0001c0001t0005g0248	1	320	0.0031	26	c.107 others(45): Show c.1078-5415_1078-5414insTATATATATATAGAGAGAGAGAGAGA	SCNN1G	ENSG00000166828.3	transcript	ENST00000300061.3	protein_coding	6/12		INFO_REALIGN_3_PRIME	chr16	TogoVar
SCP2_chr1_52922276_53056698	52945744	A A	AATATATA others(19): Show AATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02622.hp2 HG02109.hp1 HG02622.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0008 a0001c0001t0006 a0001c0003t0008	a0001c0001t0006g0034 a0001c0003t0008g0033 a0001c0001t0006g0034 a0001c0003t0008g0033	2	280	0.0071	26	c.128 others(43): Show c.128-2249_128-2248insATATATATATATATATATATATATAT	SCP2	ENSG00000116171.19	transcript	ENST00000371514.8	protein_coding	2/15		INFO_REALIGN_3_PRIME	chr1	TogoVar
SCRG1_chr4_173379701_173404116	173396741	T T	TGTGTGTG others(19): Show TGTGTGTGTGTGTGTGTGTGTGTGTGA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0024	a0001c0001t0024g0150 a0001c0001t0024g0150	1	380	0.0026	26	c.-15 others(43): Show c.-15+2326_-15+2327insTCACACACACACACACACACACACAC	SCRG1	ENSG00000164106.8	transcript	ENST00000296506.8	protein_coding	1/2			chr4	TogoVar
SCRN1_chr7_29915109_29994801	29966159	C C	CAGAGAGA others(19): Show CAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA19088.hp2 NA18522.hp2 NA19088.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0006 a0002c0002t0006 a0001c0001t0006 a0002c0002t0006	a0001c0001t0006g0191 a0002c0002t0006g0223 a0001c0001t0006g0191 a0002c0002t0006g0223	2	274	0.0073	26	c.159 others(43): Show c.159+2724_159+2749dupCTCTCTCTCTCTCTCTCTCTCTCTCT	SCRN1	ENSG00000136193.17	transcript	ENST00000242059.10	protein_coding	2/7			chr7	TogoVar
SCTR_chr2_119434843_119529483	119444440	T T	TATATATA others(19): Show TATATATACGTACGTATATATATACAC	intron_variant intron_variant	MODIFIER	HG01952.hp2 NA20905.hp2 HG01952.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0016 a0001c0002 a0001c0016	a0001c0002t0004 a0001c0016t0001 a0001c0002t0004 a0001c0016t0001	a0001c0002t0004g0037 a0001c0016t0001g0284 a0001c0002t0004g0037 a0001c0016t0001g0284	2	290	0.0069	26	c.114 others(45): Show c.1140+2293_1140+2318dupGTGTATATATATACGTACGTATATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCTR_chr2_119434843_119529483	119444506	T T	TATATATA others(19): Show TATATATATACACATATATACGTACGA	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG01169.hp1 HG01167.hp2 HG01169.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0004 a0001c0002t0001 a0001c0002t0004	a0001c0002t0001g0159 a0001c0002t0004g0032 a0001c0002t0001g0159 a0001c0002t0004g0032	2	290	0.0069	26	c.114 others(45): Show c.1140+2227_1140+2252dupTCGTACGTATATATGTGTATATATAT	SCTR	ENSG00000080293.10	transcript	ENST00000019103.8	protein_coding	11/12			chr2	TogoVar
SCT_chr11_621309_632181	628896	C C	CTTTTCTT others(19): Show CTTTTCTTTCTTTCTTTCTTTCTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02717.hp2 HG02895.hp1 HG02897.hp2 HG02717.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	3	411	0.0073	26	c.-17 others(37): Show c.-1754_-1753insAGAAAGAAAGAAAGAAAGAAAGAAAA	SCT	ENSG00000070031.4	transcript	ENST00000176195.4	protein_coding		1716		chr11	TogoVar
SCUBE1_chr22_43192280_43348372	43192577	T T	TGTATATA others(19): Show TGTATATATACACGTATATATATATAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0153 a0002c0002t0002g0153	1	280	0.0036	26	c.11 others(39): Show c.11419_*11420insGTATATATATATACGTGTATATATAC	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4702		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43192610	G G	GTATATAT others(19): Show GTATATATATATATATATATACGTATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0004 a0001c0004t0004	a0001c0004t0004g0252 a0001c0004t0004g0252	1	280	0.0036	26	c.11 others(39): Show c.11386_*11387insTATACGTATATATATATATATATATA	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding		4669		chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281314	T T	TCCTCAGC others(19): Show TCCTCAGCCACCCTCCTGTCACCTCCC	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp1	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0011 a0001c0006t0011	a0001c0006t0011g0198 a0001c0006t0011g0198	1	280	0.0036	26	c.484 others(43): Show c.484+9731_484+9732insGGGAGGTGACAGGAGGGTGGCTGAGG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE1_chr22_43192280_43348372	43281540	T T	TCACCCTC others(19): Show TCACCCTCCTGTCACCTCCCCCTCAGC	intron_variant intron_variant	MODIFIER	HG01515.hp1 HG01517.hp2 HG01515.hp1 HG01517.hp2	a0003 a0003	a0003c0001 a0003c0001	a0003c0001t0001 a0003c0001t0001	a0003c0001t0001g0087 a0003c0001t0001g0088 a0003c0001t0001g0087 a0003c0001t0001g0088	2	280	0.0071	26	c.484 others(43): Show c.484+9480_484+9505dupGCTGAGGGGGAGGTGACAGGAGGGTG	SCUBE1	ENSG00000159307.20	transcript	ENST00000360835.9	protein_coding	4/21			chr22	TogoVar
SCUBE2_chr11_9014476_9096599	9054701	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18957.hp2 NA18957.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0344 a0002c0001t0001g0344	1	358	0.0028	26	c.120 others(43): Show c.1208-943_1208-942insTATATATATATATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(19): Show ATATATATATATATATATATATTTTTT	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02056.hp2	a0015 a0015	a0015c0018 a0015c0018	a0015c0018t0001 a0015c0018t0001	a0015c0018t0001g0005 a0015c0018t0001g0005	1	358	0.0028	26	c.120 others(43): Show c.1208-967_1208-966insAAAAAATATATATATATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCUBE2_chr11_9014476_9096599	9054725	A A	ATATATAT others(19): Show ATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0021 a0001c0021	a0001c0021t0001 a0001c0021t0001	a0001c0021t0001g0052 a0001c0021t0001g0052	1	358	0.0028	26	c.120 others(43): Show c.1208-967_1208-966insAAAAAAAAAAAAAAAATATATATATA	SCUBE2	ENSG00000175356.14	transcript	ENST00000649792.2	protein_coding	10/22			chr11	TogoVar
SCYGR1_chr2_227382683_227392949	227389893	C C	CTTTTCTT others(19): Show CTTTTCTTTTCTTTTCTTTTCTTTTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0000 a0003c0004t0001g0000	1	454	0.0022	26	c.-19 others(37): Show c.-1945_-1944insAGAAAAGAAAAGAAAAGAAAAGAAAA	SCYGR1	ENSG00000284629.1	transcript	ENST00000641359.1	protein_coding		1945		chr2	TogoVar
SCYL1_chr11_65520083_65543704	65524847	G G	GCCCCGCC others(19): Show GCCCCGCCCCTCCCTAGCCCCCCCCAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0047 a0001c0001t0001g0047	1	278	0.0036	26	c.-30 others(35): Show c.-307_-306insCCCCGCCCCTCCCTAGCCCCCCCCAT	SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding		235		chr11	TogoVar
SCYL1_chr11_65520083_65543704	65524863	G G	GCCCCCCC others(19): Show GCCCCCCCATCCCCGCCCCTCCCTAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01175.hp1 HG01978.hp1 HG02809.hp1 others(2): Show HG01175.hp1 HG01978.hp1 HG02809.hp1 HG04228.hp2 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0045 others(2): Show a0001c0001t0001g0002 a0001c0001t0001g0026 a0001c0001t0001g0045 a0001c0001t0001g0070 a0001c0001t0001g0071	5	278	0.0180	26	c.-29 others(35): Show c.-291_-290insCCCCCCCATCCCCGCCCCTCCCTAGC	SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding		219		chr11	TogoVar
SCYL1_chr11_65520083_65543704	65524888	G G	GCCCCCCC others(19): Show GCCCCCCCATCCCCGCCCCTCCCTAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00438.hp2 HG02055.hp1 HG02056.hp1 others(1): Show HG00438.hp2 HG02055.hp1 HG02056.hp1 NA18977.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0024 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0024 a0001c0001t0001g0050	4	278	0.0144	26	c.-26 others(35): Show c.-266_-265insCCCCCCCATCCCCGCCCCTCCCTAGC	SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding		194		chr11	TogoVar
SCYL1_chr11_65520083_65543704	65524913	G G	GCCCCCCC others(19): Show GCCCCCCCATCCCCGCCCCTCCCTAGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02451.hp2 HG02572.hp1 HG02647.hp1 others(3): Show HG02451.hp2 HG02572.hp1 HG02647.hp1 HG02738.hp2 HG02896.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0042 others(1): Show a0001c0001t0001g0002 a0001c0001t0001g0020 a0001c0001t0001g0042 a0001c0001t0001g0077	6	278	0.0216	26	c.-24 others(35): Show c.-241_-240insCCCCCCCATCCCCGCCCCTCCCTAGC	SCYL1	ENSG00000142186.18	transcript	ENST00000270176.10	protein_coding		169		chr11	TogoVar
SCYL3_chr1_169844631_169898896	169851045	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03942.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0089 a0001c0001t0089	a0001c0001t0089g0299 a0001c0001t0089g0299	1	418	0.0024	26	c.26 others(37): Show c.2642_*2667dupAAAAAAAAAAAAAAAAAAAAAAAAAA	SCYL3	ENSG00000000457.14	transcript	ENST00000367771.11	protein_coding	13/13	2667		chr1	TogoVar
SDAD1_chr4_75944915_75995945	75994045	A A	AAAAAATA others(19): Show AAAAAATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03209.hp1 HG03209.hp1	a0004 a0004	a0004c0006 a0004c0006	a0004c0006t0002 a0004c0006t0002	a0004c0006t0002g0282 a0004c0006t0002g0282	1	376	0.0027	26	c.-32 others(37): Show c.-3205_-3204insATATATATATATATATATATATTTTT	SDAD1	ENSG00000198301.12	transcript	ENST00000356260.10	protein_coding		3101		chr4	TogoVar
SDC2_chr8_96488813_96616790	96540340	G G	GTATATAT others(19): Show GTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG04184.hp2 HG04184.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0100 a0001c0001t0002g0100	1	334	0.0030	26	c.60+ others(43): Show c.60+46025_60+46026insTATATATATATATATATATATATATA	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96540340	G G	GTGTATAT others(19): Show GTGTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0268 a0003c0004t0001g0268	1	334	0.0030	26	c.60+ others(43): Show c.60+46010_60+46011insGTATATATATATATATATATATATAT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDC2_chr8_96488813_96616790	96565084	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00140.hp1 NA19002.hp2 HG00140.hp1 NA19002.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0040 a0001c0003t0001g0243 a0001c0001t0001g0040 a0001c0003t0001g0243	2	334	0.0060	26	c.61- others(43): Show c.61-28381_61-28380insTTTTTTTTTTTTTTTTTTTTTTTTTT	SDC2	ENSG00000169439.12	transcript	ENST00000302190.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr8	TogoVar
SDCCAG8_chr1_243251041_243505091	243294506	C C	CGAGAGAG others(19): Show CGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG01243.hp2 HG01257.hp2 others(4): Show HG00438.hp1 HG01243.hp2 HG01257.hp2 HG01496.hp2 HG01981.hp1 HG02738.hp1 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0002 a0001c0001t0002 a0001c0002t0002	a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0002t0002g0080 others(4): Show a0001c0001t0002g0075 a0001c0001t0002g0077 a0001c0002t0002g0080 a0001c0002t0002g0085 a0001c0002t0002g0090 a0001c0002t0002g0094 a0001c0002t0002g0105	7	189	0.0370	26	c.675 others(43): Show c.675+1307_675+1308insGAGAGAGAGAGAGAGAGAGAGAGAGA	SDCCAG8	ENSG00000054282.16	transcript	ENST00000366541.8	protein_coding	6/17		INFO_REALIGN_3_PRIME	chr1	TogoVar
SDF2_chr17_28643346_28666906	28663828	A A	ATTTTTTT others(19): Show ATTTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18966.hp2 NA18966.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0041 a0001c0001t0002g0041	1	398	0.0025	26	c.-19 others(37): Show c.-1953_-1952insAAAAAAAAAAAAAAAAAAAAAAAAAA	SDF2	ENSG00000132581.10	transcript	ENST00000247020.9	protein_coding		1923		chr17	TogoVar
SDHAF3_chr7_97112698_97186763	97183901	C C	CTTTTTTT others(19): Show CTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01516.hp1 NA18971.hp2 NA19062.hp1 HG01516.hp1 NA18971.hp2 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0321 a0001c0001t0002g0070 a0001c0001t0002g0087 a0001c0001t0001g0321 a0001c0001t0002g0070 a0001c0001t0002g0087	3	402	0.0075	26	c.26 others(37): Show c.2686_*2687insTTTTTTTTTTTTTTTTTTTTTTTTTT	SDHAF3	ENSG00000196636.8	transcript	ENST00000432641.3	protein_coding		2139		chr7	TogoVar

Search by Variant

Search

Search Results