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
SEPTIN14_chr7_55788540_55867752	55830349	A A	ATATATTT others(17): Show ATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02055.hp2 HG02055.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0082 a0001c0001t0006g0082	1	390	0.0026	24	c.720 others(41): Show c.720+4075_720+4076insAAAAAAAAAAAAAAAAAAAATATA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	6/9			chr7	TogoVar
SEPTIN14_chr7_55788540_55867752	55846065	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG01074.hp1 HG00099.hp1 HG01074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0252 a0001c0001t0002g0155 a0001c0001t0001g0252 a0001c0001t0002g0155	2	390	0.0051	24	c.175 others(39): Show c.175+428_175+451dupTATATATATATATATATATATATA	SEPTIN14	ENSG00000154997.9	transcript	ENST00000388975.4	protein_coding	3/9			chr7	TogoVar
SEPTIN5_chr22_19709503_19728319	19712694	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19083.hp1 NA19083.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	24	c.-18 others(35): Show c.-1895_-1894insTTTTTTTTTTTTTTTTTTTTTTTT	SEPTIN5	ENSG00000184702.20	transcript	ENST00000455784.7	protein_coding		1808		chr22	TogoVar
SEPTIN6_chrX_119611945_119698168	119621446	G G	GGTGTGTG others(17): Show GGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02129.hp1 HG02622.hp1 others(2): Show HG00639.hp2 HG02129.hp1 HG02622.hp1 NA18963.hp2 NA19004.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0018 a0001c0001t0045 a0001c0001t0001 a0001c0001t0018 a0001c0001t0045	a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0110 others(2): Show a0001c0001t0001g0034 a0001c0001t0001g0048 a0001c0001t0001g0110 a0001c0001t0018g0004 a0001c0001t0045g0093	5	252	0.0198	24	c.42 others(41): Show c.42-1419_*42-1396dupACACACACACACACACACACACAC	SEPTIN6	ENSG00000125354.24	transcript	ENST00000394610.7	protein_coding	10/10			chrX	TogoVar
SEPTIN8_chr5_132745819_132782239	132767943	C C	CCACACAC others(17): Show CCACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG04184.hp1 HG04184.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	326	0.0031	24	c.31- others(39): Show c.31-2438_31-2415dupTGTGTGTGTGTGTGTGTGTGTGTG	SEPTIN8	ENSG00000164402.14	transcript	ENST00000378719.7	protein_coding	1/9			chr5	TogoVar
SEPTIN9_chr17_77276499_77505593	77343003	G G	GTCTGTCT others(17): Show GTCTGTCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG01346.hp2 HG02717.hp2 NA18973.hp2 HG01346.hp2 HG02717.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0052 a0001c0001t0001 a0001c0001t0002 a0001c0001t0052	a0001c0001t0001g0065 a0001c0001t0002g0115 a0001c0001t0052g0013 a0001c0001t0001g0065 a0001c0001t0002g0115 a0001c0001t0052g0013	3	150	0.0200	24	c.76+ others(41): Show c.76+35809_76+35810insGTCTATCTATCTATCTATCTATCT	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77343003	G G	GTCTGTCT others(17): Show GTCTGTCTATCTATCTATCTATCTA	intron_variant intron_variant	MODIFIER	HG01346.hp1 HG02717.hp2 NA18973.hp1 HG01346.hp1 HG02717.hp2 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0038 a0001c0001t0001 a0001c0001t0002 a0001c0001t0038	a0001c0001t0001g0113 a0001c0001t0002g0098 a0001c0001t0038g0106 a0001c0001t0001g0113 a0001c0001t0002g0098 a0001c0001t0038g0106	3	158	0.0190	24	c.22+ others(41): Show c.22+22658_22+22659insGTCTATCTATCTATCTATCTATCT	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERAC1_chr6_158104519_158173262	158169681	A A	ATAATATA others(17): Show ATAATATATATTATATAATATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18959.hp1 NA18959.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0068 a0001c0001t0002g0068	1	366	0.0027	24	c.-15 others(35): Show c.-1544_-1543insCAATATATTATATAATATATATTA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1420		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169681	A A	ATATTGTA others(17): Show ATATTGTATATTATATAATATATTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02896.hp2 HG02897.hp1 HG03130.hp1 HG02896.hp2 HG02897.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0342 a0001c0001t0010g0343 a0001c0001t0010g0344 a0001c0001t0010g0342 a0001c0001t0010g0343 a0001c0001t0010g0344	3	366	0.0082	24	c.-15 others(35): Show c.-1544_-1543insCAATATATTATATAATATACAATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1420		chr6	TogoVar
SERAC1_chr6_158104519_158173262	158169686	A A	ATATATTA others(17): Show ATATATTATATAATATATTGTATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18951.hp1 NA19070.hp2 NA18951.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0003 a0001c0001t0002 a0001c0002t0003	a0001c0001t0002g0035 a0001c0002t0003g0258 a0001c0001t0002g0035 a0001c0002t0003g0258	2	366	0.0055	24	c.-15 others(35): Show c.-1549_-1548insATATACAATATATTATATAATATA	SERAC1	ENSG00000122335.17	transcript	ENST00000647468.2	protein_coding		1425		chr6	TogoVar
SERF1B_chr5_70020251_70048113	70036629	A A	ACACTCTC others(17): Show ACACTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	NA18962.hp1 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	218	0.0046	24	c.117 others(41): Show c.117-4894_117-4893insACTCTCTCTCTCTCTCTCTCTCTC	SERF1B	ENSG00000205572.11	transcript	ENST00000380750.8	protein_coding	2/2		INFO_REALIGN_3_PRIME	chr5	TogoVar
SERF1B_chr5_70020251_70048113	70046392	C C	CTTTTTTT others(17): Show CTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0164 a0001c0001t0001g0164	1	218	0.0046	24	c.46 others(35): Show c.4652_*4653insTTTTTTTTTTTTTTTTTTTTTTTT	SERF1B	ENSG00000205572.11	transcript	ENST00000380750.8	protein_coding		3280		chr5	TogoVar
SERF2_chr15_43787320_43801079	43790997	T T	TTTTGTTT others(17): Show TTTTGTTTGTTGTGTGTAGTGGTAG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0001 a0001c0001t0012g0001	1	392	0.0026	24	c.-13 others(35): Show c.-1380_-1379insTTTGTTTGTTGTGTGTAGTGGTAG	SERF2	ENSG00000140264.22	transcript	ENST00000249786.9	protein_coding		1322		chr15	TogoVar
SERHL2_chr22_42548956_42579382	42559229	T T	TAAAAAAA others(17): Show TAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02027.hp2 HG02080.hp1 NA18963.hp2 others(4): Show HG02027.hp2 HG02080.hp1 NA18963.hp2 NA18988.hp1 NA18988.hp2 NA19000.hp2 NA19089.hp1	a0002 a0002	a0002c0002 a0002c0009 a0002c0002 a0002c0009	a0002c0002t0001 a0002c0009t0001 a0002c0002t0001 a0002c0009t0001	a0002c0002t0001g0225 a0002c0002t0001g0244 a0002c0002t0001g0265 others(4): Show a0002c0002t0001g0225 a0002c0002t0001g0244 a0002c0002t0001g0265 a0002c0002t0001g0266 a0002c0002t0001g0304 a0002c0002t0001g0342 a0002c0009t0001g0335	7	432	0.0162	24	c.533 others(39): Show c.533+776_533+799dupAAAAAAAAAAAAAAAAAAAAAAAA	SERHL2	ENSG00000183569.18	transcript	ENST00000327678.10	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERINC1_chr6_122438351_122476807	122441327	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02723.hp2 NA18906.hp2 HG02723.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0001 a0001c0001t0013	a0001c0001t0001g0198 a0001c0001t0013g0217 a0001c0001t0001g0198 a0001c0001t0013g0217	2	366	0.0055	24	c.37 others(35): Show c.3716_*3717insTTTTTTTTTTTTTTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding		2023		chr6	TogoVar
SERINC2_chr1_31408213_31439678	31414454	T T	TGTGTGTG others(17): Show TGTGTGTGTGTGTGTGTGTGTGAGA	intron_variant intron_variant	MODIFIER	NA18998.hp2 NA18998.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0004 a0001c0003t0004	a0001c0003t0004g0268 a0001c0003t0004g0268	1	376	0.0027	24	c.39+ others(39): Show c.39+1151_39+1152insTGTGTGTGTGTGTGTGTGTGAGAG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	1/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC4_chr15_43789162_43805220	43790997	T T	TTTTGTTT others(17): Show TTTTGTTTGTTGTGTGTAGTGGTAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0037 a0001c0001t0001g0037	1	382	0.0026	24	c.40 others(35): Show c.4002_*4003insCTACCACTACACACAACAAACAAA	SERINC4	ENSG00000184716.14	transcript	ENST00000319327.7	protein_coding		3164		chr15	TogoVar
SERINC5_chr5_80133727_80261048	80139596	A A	AAGAGAGA others(17): Show AAGAGAGAGAGAGAGAGAGAGAGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01496.hp1 HG01891.hp1 HG02145.hp2 others(7): Show HG01496.hp1 HG01891.hp1 HG02145.hp2 HG02622.hp1 HG02717.hp1 HG02896.hp1 HG02922.hp1 HG03225.hp2 NA19240.hp2 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0006 a0001c0001 a0001c0006	a0001c0001t0008 a0001c0001t0036 a0001c0001t0037 others(1): Show a0001c0001t0008 a0001c0001t0036 a0001c0001t0037 a0001c0006t0045	a0001c0001t0008g0125 a0001c0001t0008g0129 a0001c0001t0008g0182 others(7): Show a0001c0001t0008g0125 a0001c0001t0008g0129 a0001c0001t0008g0182 a0001c0001t0008g0240 a0001c0001t0008g0241 a0001c0001t0008g0259 a0001c0001t0008g0267 a0001c0001t0036g0254 a0001c0001t0037g0262 a0001c0006t0045g0128	10	286	0.0350	24	c.40 others(35): Show c.4066_*4067insCTCTCTCTCTCTCTCTCTCTCTCT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	12/12	4066		chr5	TogoVar
SERINC5_chr5_80133727_80261048	80174369	A A	AAATAATA others(17): Show AAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA18969.hp1 NA18969.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0032 a0001c0002t0003g0032	1	286	0.0035	24	c.551 others(39): Show c.551+561_551+584dupATTATTATTATTATTATTATTATT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	5/11			chr5	TogoVar
SERINC5_chr5_80133727_80261048	80181414	T T	TATTGTGT others(17): Show TATTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG01168.hp1 HG01943.hp2 others(13): Show HG00099.hp2 HG01168.hp1 HG01943.hp2 HG01975.hp2 HG02258.hp1 HG02280.hp2 HG03927.hp1 NA18940.hp2 NA18952.hp2 NA18954.hp1 NA18957.hp2 NA18963.hp2 NA18970.hp1 NA18984.hp1 NA18984.hp2 NA18995.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(6): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0014 a0001c0001t0024 a0001c0001t0062 a0001c0002t0003	a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0028 others(13): Show a0001c0001t0001g0014 a0001c0001t0001g0022 a0001c0001t0001g0028 a0001c0001t0001g0092 a0001c0001t0001g0153 a0001c0001t0001g0170 a0001c0001t0002g0211 a0001c0001t0002g0215 a0001c0001t0004g0282 a0001c0001t0006g0023 a0001c0001t0007g0275 a0001c0001t0014g0152 a0001c0001t0024g0165 a0001c0001t0062g0283 a0001c0002t0003g0010 a0001c0002t0003g0031	16	286	0.0559	24	c.196 others(41): Show c.196-3351_196-3350insCACACACACACACACACACACAAT	SERINC5	ENSG00000164300.17	transcript	ENST00000507668.7	protein_coding	2/11			chr5	TogoVar
SERPINA11_chr14_94437464_94457800	94452598	A A	AACACACA others(17): Show AACACACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18956.hp1 NA18991.hp1 NA19091.hp1 NA18956.hp1 NA18991.hp1 NA19091.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076 a0002c0002t0001g0074 a0002c0002t0001g0075 a0002c0002t0001g0076	3	452	0.0066	24	c.-4+ others(37): Show c.-4+107_-4+130dupGTGTGTGTGTGTGTGTGTGTGTGT	SERPINA11	ENSG00000186910.4	transcript	ENST00000334708.4	protein_coding	1/4			chr14	TogoVar
SERPINA1_chr14_94371747_94393602	94392918	T T	TAGAGATA others(17): Show TAGAGATATACAAAAGAGAAAAACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp1 HG01081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0142 a0001c0001t0001g0142	1	443	0.0023	24	c.-43 others(35): Show c.-4364_-4363insTGTTTTTCTCTTTTGTATATCTCT	SERPINA1	ENSG00000197249.14	transcript	ENST00000393087.9	protein_coding		4317		chr14	TogoVar
SERPINA5_chr14_94576426_94598118	94591580	T T	TTCTATTC others(17): Show TTCTATTCTATTCTATTCTATTCTA	intron_variant intron_variant	MODIFIER	NA18978.hp2 NA18978.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0104 a0001c0001t0002g0104	1	464	0.0022	24	c.103 others(41): Show c.1039-475_1039-452dupCTATTCTATTCTATTCTATTCTAT	SERPINA5	ENSG00000188488.14	transcript	ENST00000329597.12	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr14	TogoVar
SERPINB12_chr18_63537369_63574329	63558999	C C	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTCTCT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02258.hp1 HG01109.hp2 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0230 a0001c0001t0009g0232 a0001c0001t0009g0230 a0001c0001t0009g0232	2	402	0.0050	24	c.303 others(39): Show c.303+516_303+517insTTTCTTTCTTTCTTTCTCTCTTTC	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB12_chr18_63537369_63574329	63558999	C C	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA18997.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0132 a0001c0001t0004g0132	1	402	0.0025	24	c.303 others(39): Show c.303+516_303+517insTTTCTTTCTTTCTTTCTTTCTTTC	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB12_chr18_63537369_63574329	63559003	C C	CTTCTTTC others(17): Show CTTCTTTCTTTCTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA19056.hp1 HG02040.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0005 a0001c0001t0002 a0001c0001t0005	a0001c0001t0002g0208 a0001c0001t0005g0110 a0001c0001t0002g0208 a0001c0001t0005g0110	2	402	0.0050	24	c.304 others(39): Show c.304-542_304-519dupTTCTTTCTTTCTTTCTTTCTTTCT	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB12_chr18_63537369_63574329	63559046	C C	CTTTCTTT others(17): Show CTTTCTTTCTTTCTTTCTCTTTCTT	intron_variant intron_variant	MODIFIER	NA19086.hp2 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0192 a0001c0001t0001g0192	1	402	0.0025	24	c.304 others(39): Show c.304-519_304-518insTTCTCTTTCTTTTTCTTTCTTTCT	SERPINB12	ENSG00000166634.7	transcript	ENST00000382768.2	protein_coding	3/7		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB5_chr18_63471958_63510085	63497499	G G	GAAAAAAA others(17): Show GAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0007 a0007	a0007c0012 a0007c0012	a0007c0012t0001 a0007c0012t0001	a0007c0012t0001g0163 a0007c0012t0001g0163	1	410	0.0024	24	c.568 others(41): Show c.568-1606_568-1605insAAAAAAAAAAAAAAAAAAAAAAAA	SERPINB5	ENSG00000206075.14	transcript	ENST00000382771.9	protein_coding	5/6		INFO_REALIGN_3_PRIME	chr18	TogoVar
SERPINB9_chr6_2882270_2908309	2900885	T T	TCTCACAC others(17): Show TCTCACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00597.hp1 HG01070.hp2 others(11): Show HG00408.hp1 HG00597.hp1 HG01070.hp2 HG02080.hp2 HG02965.hp1 HG03688.hp1 NA18939.hp1 NA18947.hp2 NA18966.hp1 NA18966.hp2 NA18970.hp2 NA18975.hp1 NA18981.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0004 a0001c0001t0005 a0001c0001t0007 a0001c0001t0011 a0001c0001t0038 a0001c0001t0048	a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0288 others(9): Show a0001c0001t0001g0280 a0001c0001t0001g0283 a0001c0001t0001g0288 a0001c0001t0002g0282 a0001c0001t0002g0287 a0001c0001t0004g0284 a0001c0001t0005g0286 a0001c0001t0007g0281 a0001c0001t0011g0011 a0001c0001t0011g0285 a0001c0001t0038g0279 a0001c0001t0048g0289	14	462	0.0303	24	c.-10 others(39): Show c.-10-265_-10-264insTGTGTGTGTGTGTGTGTGTGTGAG	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding	1/6			chr6	TogoVar
SERPINB9_chr6_2882270_2908309	2900885	T T	TCTCTCAC others(17): Show TCTCTCACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02155.hp2 NA18975.hp2 HG02155.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0024 a0001c0001t0033 a0001c0001t0024 a0001c0001t0033	a0001c0001t0024g0069 a0001c0001t0033g0242 a0001c0001t0024g0069 a0001c0001t0033g0242	2	462	0.0043	24	c.-10 others(39): Show c.-10-265_-10-264insTGTGTGTGTGTGTGTGTGTGAGAG	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding	1/6			chr6	TogoVar
SERPINB9_chr6_2882270_2908309	2900885	T T	TCTCTCTC others(17): Show TCTCTCTCTCACACACACACACACA	intron_variant intron_variant	MODIFIER	HG02976.hp2 HG03139.hp2 NA19240.hp1 HG02976.hp2 HG03139.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0080 a0001c0001t0085 a0001c0001t0086 a0001c0001t0080 a0001c0001t0085 a0001c0001t0086	a0001c0001t0080g0088 a0001c0001t0085g0086 a0001c0001t0086g0085 a0001c0001t0080g0088 a0001c0001t0085g0086 a0001c0001t0086g0085	3	462	0.0065	24	c.-10 others(39): Show c.-10-265_-10-264insTGTGTGTGTGTGTGTGAGAGAGAG	SERPINB9	ENSG00000170542.6	transcript	ENST00000380698.5	protein_coding	1/6			chr6	TogoVar
SERPIND1_chr22_20769113_20792720	20780775	C C	CAAAAAAA others(17): Show CAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG01074.hp2 HG01123.hp1 others(9): Show HG00673.hp1 HG01074.hp2 HG01123.hp1 HG02165.hp2 HG02698.hp1 HG03239.hp1 HG03704.hp2 HG04199.hp2 NA18949.hp2 NA18970.hp1 NA18999.hp2 NA19088.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0051 a0001c0001t0001g0006 a0001c0001t0001g0051	12	412	0.0291	24	c.889 others(39): Show c.889+590_889+591insAAAAAAAAAAAAAAAAAAAAAAAA	SERPIND1	ENSG00000099937.11	transcript	ENST00000215727.10	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERPINE1_chr7_101122104_101144247	101129660	G G	GAGAAAGA others(17): Show GAGAAAGAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG00544.hp1 HG02056.hp1 HG02135.hp2 others(4): Show HG00544.hp1 HG02056.hp1 HG02135.hp2 NA18964.hp2 NA18967.hp1 NA18999.hp2 NA19064.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0074 a0001c0001t0001g0202 a0001c0001t0001g0203 others(4): Show a0001c0001t0001g0074 a0001c0001t0001g0202 a0001c0001t0001g0203 a0001c0001t0001g0204 a0001c0001t0001g0205 a0001c0001t0001g0206 a0001c0001t0001g0207	7	436	0.0161	24	c.272 others(39): Show c.272-744_272-743insGAAAGAAAGAAAGAAAGAAAGAAA	SERPINE1	ENSG00000106366.9	transcript	ENST00000223095.5	protein_coding	2/8		INFO_REALIGN_3_PRIME	chr7	TogoVar
SERPINE2_chr2_223970045_224044286	224005065	T T	TTATATAT others(17): Show TTATATATTTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG00639.hp1 HG02145.hp1 others(12): Show HG00621.hp2 HG00639.hp1 HG02145.hp1 HG02165.hp2 HG02622.hp2 HG03486.hp2 NA18522.hp1 NA18941.hp1 NA19000.hp1 NA19057.hp2 NA19063.hp1 NA19064.hp1 NA19082.hp2 NA19086.hp2 NA20300.hp2	a0001 a0001	a0001c0002 a0001c0003 a0001c0009 a0001c0002 a0001c0003 a0001c0009	a0001c0002t0001 a0001c0003t0001 a0001c0009t0001 a0001c0002t0001 a0001c0003t0001 a0001c0009t0001	a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0042 others(12): Show a0001c0002t0001g0038 a0001c0002t0001g0039 a0001c0002t0001g0042 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0164 a0001c0002t0001g0165 a0001c0002t0001g0172 a0001c0002t0001g0173 a0001c0002t0001g0195 a0001c0002t0001g0196 a0001c0002t0001g0197 a0001c0003t0001g0160 a0001c0003t0001g0175 a0001c0009t0001g0133	15	374	0.0401	24	c.-22 others(41): Show c.-22-3144_-22-3143insTATATATATATATATAAATATATA	SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding	1/8			chr2	TogoVar
SERPINE2_chr2_223970045_224044286	224044077	T T	TTTCCTTC others(17): Show TTTCCTTCCTTCCTTCCTTCCTTCC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 HG02976.hp1 HG02486.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0002 a0001c0003t0001 a0001c0001t0002 a0001c0003t0001	a0001c0001t0002g0281 a0001c0003t0001g0056 a0001c0001t0002g0281 a0001c0003t0001g0056	2	374	0.0054	24	c.-50 others(35): Show c.-5002_-5001insGGAAGGAAGGAAGGAAGGAAGGAA	SERPINE2	ENSG00000135919.14	transcript	ENST00000409304.6	protein_coding		4792		chr2	TogoVar
SERPINI1_chr3_167730721_167830569	167759400	G G	GTATATAT others(17): Show GTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01099.hp1 HG01255.hp1 others(17): Show HG01081.hp2 HG01099.hp1 HG01255.hp1 HG02071.hp1 HG02083.hp1 HG02630.hp2 HG02698.hp1 HG03041.hp2 HG03486.hp2 HG03831.hp1 NA18946.hp1 NA18956.hp2 NA18964.hp1 NA18969.hp1 NA18972.hp1 NA19011.hp1 NA19043.hp1 NA19058.hp1 NA19060.hp2 NA19089.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0098 others(17): Show a0001c0001t0001g0021 a0001c0001t0001g0034 a0001c0001t0001g0098 a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0001g0115 a0001c0001t0001g0119 a0001c0001t0001g0121 a0001c0001t0001g0123 a0001c0001t0001g0132 a0001c0001t0001g0204 a0001c0001t0001g0205 a0002c0002t0001g0012 a0002c0002t0001g0059 a0002c0002t0001g0140 a0002c0002t0001g0202 a0002c0002t0001g0206 a0002c0002t0001g0215	20	232	0.0862	24	c.-19 others(43): Show c.-19+23598_-19+23599insATATATATATATATATATATATAT	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERPINI1_chr3_167730721_167830569	167772823	A A	ACTCTCTC others(17): Show ACTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0160 a0001c0001t0001g0160	1	232	0.0043	24	c.-18 others(43): Show c.-18-16269_-18-16246dupCTCTCTCTCTCTCTCTCTCTCTCT	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERPINI1_chr3_167730721_167830569	167772864	C C	CTCTATAT others(17): Show CTCTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01928.hp1 HG01928.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0172 a0001c0001t0001g0172	1	232	0.0043	24	c.-18 others(43): Show c.-18-16246_-18-16245insCTATATATATATATATATATATAT	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERPINI1_chr3_167730721_167830569	167772864	C C	CTCTCTCT others(17): Show CTCTCTCTCTATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0161 a0001c0001t0001g0161	1	232	0.0043	24	c.-18 others(43): Show c.-18-16246_-18-16245insCTCTCTCTATATATATATATATAT	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERPINI1_chr3_167730721_167830569	167772864	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTATATATATATA	intron_variant intron_variant	MODIFIER	HG02145.hp1 NA19089.hp2 HG02145.hp1 NA19089.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0212 a0001c0001t0001g0114 a0001c0001t0001g0212	2	232	0.0086	24	c.-18 others(43): Show c.-18-16246_-18-16245insCTCTCTCTCTCTATATATATATAT	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERPINI1_chr3_167730721_167830569	167772864	C C	CTCTCTCT others(17): Show CTCTCTCTCTCTCTCTCTCTCTCTA	intron_variant intron_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0149 a0001c0001t0001g0149	1	232	0.0043	24	c.-18 others(43): Show c.-18-16246_-18-16245insCTCTCTCTCTCTCTCTCTCTCTAT	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERPINI1_chr3_167730721_167830569	167772889	T T	TATATATA others(17): Show TATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0100 a0001c0001t0001g0100	1	232	0.0043	24	c.-18 others(43): Show c.-18-16217_-18-16216insTATATATATATATATATACATATA	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	1/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERPINI1_chr3_167730721_167830569	167793596	A A	ATATATAT others(17): Show ATATATATATATATATATTTTTTTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03579.hp1 HG02280.hp2 HG03579.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0217 a0002c0002t0001g0218 a0002c0002t0001g0217 a0002c0002t0001g0218	2	232	0.0086	24	c.676 others(39): Show c.676+813_676+814insATATATATATATATATTTTTTTTT	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERPINI1_chr3_167730721_167830569	167793596	A A	ATATATAT others(17): Show ATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02630.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0215 a0002c0002t0001g0215	1	232	0.0043	24	c.676 others(39): Show c.676+813_676+814insATATATATATATATTTTTTTTTTT	SERPINI1	ENSG00000163536.13	transcript	ENST00000446050.7	protein_coding	4/8		INFO_REALIGN_3_PRIME	chr3	TogoVar
SERTAD1_chr19_40416589_40430992	40419253	A A	AGAGAGAG others(17): Show AGAGAGAGAGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG03139.hp1 HG03139.hp2 HG02280.hp1 HG03139.hp1 HG03139.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0005 a0001c0003t0003g0005	3	368	0.0082	24	c.35 others(35): Show c.3582_*3583insACACACACACACACACTCTCTCTC	SERTAD1	ENSG00000197019.5	transcript	ENST00000357949.5	protein_coding		2335		chr19	TogoVar
SERTAD1_chr19_40416589_40430992	40419253	A A	AGAGAGTG others(17): Show AGAGAGTGTGTGTGTGTGTGTGTGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0005 a0001c0003t0003g0005	1	368	0.0027	24	c.35 others(35): Show c.3582_*3583insACACACACACACACACACACTCTC	SERTAD1	ENSG00000197019.5	transcript	ENST00000357949.5	protein_coding		2335		chr19	TogoVar
SERTM1_chr13_36669020_36702839	36678679	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01516.hp2 HG01516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0082 a0001c0001t0018g0082	1	438	0.0023	24	c.-17 others(43): Show c.-174+4511_-174+4512insTATATATATATATATATATATATA	SERTM1	ENSG00000180440.4	transcript	ENST00000315190.4	protein_coding	1/1		INFO_REALIGN_3_PRIME	chr13	TogoVar
SESN1_chr6_108979309_109099846	109064622	G G	GGGGAGGG others(17): Show GGGGAGGGGAGGGGAGGGGAGGGGA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG01123.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0044 a0002c0002t0002g0044	1	184	0.0054	24	c.279 others(43): Show c.279+29172_279+29173insTCCCCTCCCCTCCCCTCCCCTCCC	SESN1	ENSG00000080546.14	transcript	ENST00000436639.7	protein_coding	1/9			chr6	TogoVar
SESN3_chr11_95160513_95236202	95186194	C C	CTGTGTGT others(17): Show CTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG01168.hp1 HG01255.hp2 others(11): Show HG00323.hp1 HG01168.hp1 HG01255.hp2 HG01515.hp1 HG02074.hp2 HG02109.hp2 HG02622.hp2 HG02818.hp2 NA18965.hp1 NA18966.hp2 NA18969.hp1 NA18988.hp1 NA19065.hp1 NA19084.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 others(6): Show a0001c0001t0009 a0001c0001t0010 a0001c0001t0012 a0001c0001t0017 a0001c0001t0020 a0001c0001t0028 a0001c0001t0068 a0001c0002t0042 a0001c0003t0050	a0001c0001t0009g0005 a0001c0001t0009g0037 a0001c0001t0009g0056 others(10): Show a0001c0001t0009g0005 a0001c0001t0009g0037 a0001c0001t0009g0056 a0001c0001t0009g0087 a0001c0001t0010g0173 a0001c0001t0012g0033 a0001c0001t0017g0169 a0001c0001t0017g0172 a0001c0001t0020g0031 a0001c0001t0028g0125 a0001c0001t0068g0164 a0001c0002t0042g0068 a0001c0003t0050g0075	14	392	0.0357	24	c.526 others(39): Show c.526-726_526-703dupCACACACACACACACACACACACA	SESN3	ENSG00000149212.12	transcript	ENST00000536441.7	protein_coding	4/9			chr11	TogoVar
SESTD1_chr2_179096678_179269832	179229749	T T	TTATATAT others(17): Show TTATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG02300.hp1 HG02523.hp1 others(1): Show HG00408.hp2 HG02300.hp1 HG02523.hp1 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0015 a0001c0001t0020 a0001c0001t0005 a0001c0001t0015 a0001c0001t0020	a0001c0001t0005g0035 a0001c0001t0005g0131 a0001c0001t0015g0138 others(1): Show a0001c0001t0005g0035 a0001c0001t0005g0131 a0001c0001t0015g0138 a0001c0001t0020g0193	4	274	0.0146	24	c.-26 others(43): Show c.-26+34726_-26+34749dupTATATATATATATATATATATATA	SESTD1	ENSG00000187231.14	transcript	ENST00000428443.8	protein_coding	1/17			chr2	TogoVar

Search by Variant

Search

Search Results