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
SDK2_chr17_73329384_73649445	73355175	T T	TATATATA others(20): Show TATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01167.hp1 HG01074.hp2 HG01167.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0030 a0001c0001 a0002c0030	a0001c0001t0068 a0002c0030t0072 a0001c0001t0068 a0002c0030t0072	a0001c0001t0068g0012 a0002c0030t0072g0096 a0001c0001t0068g0012 a0002c0030t0072g0096	2	191	0.0105	27	c.559 others(46): Show c.5594-2539_5594-2538insTATATATATATATATATATATATATA T	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	40/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73426208	C C	CTTTTTTT others(20): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19007.hp1 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	4	0.2500	27	c.158 others(46): Show c.1584-2143_1584-2117dupAAAAAAAAAAAAAAAAAAAAAAAAAA A	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	12/44			chr17	TogoVar
SDK2_chr17_73329384_73649445	73509902	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03130.hp1 HG03130.hp2 others(7): Show HG02647.hp1 HG03130.hp1 HG03130.hp2 HG03453.hp1 HG03471.hp1 HG03516.hp2 HG04184.hp2 HG04228.hp2 NA19007.hp2 NA19043.hp1	a0001 a0003 a0007 others(1): Show a0001 a0003 a0007 a0023	a0001c0003 a0001c0006 a0001c0010 others(5): Show a0001c0003 a0001c0006 a0001c0010 a0001c0015 a0001c0053 a0003c0009 a0007c0050 a0023c0058	a0001c0003t0011 a0001c0006t0014 a0001c0010t0006 others(7): Show a0001c0003t0011 a0001c0006t0014 a0001c0010t0006 a0001c0010t0008 a0001c0010t0043 a0001c0015t0004 a0001c0053t0022 a0003c0009t0003 a0007c0050t0027 a0023c0058t0067	a0001c0003t0011g0068 a0001c0006t0014g0201 a0001c0010t0006g0054 others(7): Show a0001c0003t0011g0068 a0001c0006t0014g0201 a0001c0010t0006g0054 a0001c0010t0008g0059 a0001c0010t0043g0070 a0001c0015t0004g0151 a0001c0053t0022g0040 a0003c0009t0003g0084 a0007c0050t0027g0173 a0023c0058t0067g0162	10	59	0.1695	27	c.65- others(42): Show c.65-2306_65-2305insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SDK2	ENSG00000069188.17	transcript	ENST00000392650.8	protein_coding	1/44			chr17	TogoVar
SDSL_chr12_113417380_113443276	113432265	T T	TTTCTTTC others(20): Show TTTCTTTCTTTCTTTCTTTCTTTTTTTC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0075 a0001c0001t0001g0075	1	289	0.0035	27	c.355 others(44): Show c.355-1847_355-1846insTTTTCTTCTTTCTTTCTTTCTTTCTTT	SDSL	ENSG00000139410.15	transcript	ENST00000403593.9	protein_coding	4/7		INFO_REALIGN_3_PRIME	chr12	TogoVar
SEC24A_chr5_134643785_134732909	134699301	C C	CGTTTTTT others(20): Show CGTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA20300.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0306 a0001c0001t0007g0306	1	281	0.0036	27	c.226 others(46): Show c.2266+1244_2266+1245insGTTTTTTTTTTTTTTTTTTTTTTTTT T	SEC24A	ENSG00000113615.13	transcript	ENST00000398844.7	protein_coding	15/22			chr5	TogoVar
SEC24B_chr4_109428815_109545896	109439474	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG01934.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	23	0.0435	27	c.133 others(44): Show c.133+5491_133+5517dupTTTTTTTTTTTTTTTTTTTTTTTTTTT	SEC24B	ENSG00000138802.11	transcript	ENST00000265175.5	protein_coding	1/23		INFO_REALIGN_3_PRIME	chr4	TogoVar
SEC61G_chr7_54747253_54764211	54760999	T T	TAAAAAAA others(20): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18972.hp1 NA18972.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0004 a0001c0001t0001g0004	1	125	0.0080	27	c.-18 others(38): Show c.-1849_-1848insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SEC61G	ENSG00000132432.14	transcript	ENST00000352861.9	protein_coding		1789		chr7	TogoVar
SECISBP2L_chr15_48983638_49051446	49010154	C C	CACACACA others(20): Show CACACACACACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG03831.hp1 HG03831.hp2 HG03831.hp1 HG03831.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0004 a0002c0002t0002 a0002c0002t0004	a0002c0002t0002g0202 a0002c0002t0004g0157 a0002c0002t0002g0202 a0002c0002t0004g0157	2	376	0.0053	27	c.186 others(44): Show c.1865-777_1865-776insTGTGTGTGTGTGTGTGTGTGTGTGTGT	SECISBP2L	ENSG00000138593.9	transcript	ENST00000559471.6	protein_coding	13/17			chr15	TogoVar
SEL1L2_chr20_13844247_13995614	13848313	G G	GAGAAGAA others(20): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp1 HG00423.hp1 HG02257.hp1 others(7): Show HG00099.hp1 HG00423.hp1 HG02257.hp1 HG02523.hp2 HG02622.hp2 HG03041.hp2 HG03669.hp1 HG04184.hp1 NA18959.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0003t0001	a0001c0001t0001g0080 a0001c0001t0001g0126 a0001c0001t0001g0155 others(7): Show a0001c0001t0001g0080 a0001c0001t0001g0126 a0001c0001t0001g0155 a0001c0001t0001g0231 a0001c0001t0001g0243 a0001c0001t0001g0251 a0001c0001t0001g0296 a0001c0001t0002g0005 a0001c0001t0005g0304 a0001c0003t0001g0083	10	198	0.0505	27	c.11 others(38): Show c.1171_*1172insTCTTCTTCTTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		933		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(20): Show GAGAAGAAGAAGAAGAAGAAGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02132.hp1 HG03834.hp1 NA18943.hp1 others(4): Show HG02132.hp1 HG03834.hp1 NA18943.hp1 NA18948.hp1 NA18952.hp2 NA18960.hp2 NA19009.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0102 a0001c0001t0001g0118 a0001c0001t0001g0192 others(4): Show a0001c0001t0001g0102 a0001c0001t0001g0118 a0001c0001t0001g0192 a0001c0001t0002g0017 a0001c0001t0002g0043 a0001c0001t0002g0054 a0001c0001t0002g0069	7	56	0.1250	27	c.11 others(38): Show c.1165_*1166insTCTTCTTCTTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848319	G G	GAGAAGAA others(20): Show GAGAAGAAGAAGAAGAAGAGGAAGAAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0204 a0001c0001t0001g0204	1	50	0.0200	27	c.11 others(38): Show c.1165_*1166insTCTTCTTCCTCTTCTTCTTCTTCTTCT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		927		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13848357	G G	GAAGAAGA others(20): Show GAAGAAGAAGAAGAAGAAGAAGAAGAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp2 HG00544.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0167 a0002c0002t0003g0167	1	285	0.0035	27	c.11 others(38): Show c.1127_*1128insTTTCTTCTTCTTCTTCTTCTTCTTCTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding		889		chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13906604	T T	TAAAAATA others(20): Show TAAAAATAATTTTTTTTTCTGTATTAGC	intron_variant intron_variant	MODIFIER	HG02132.hp2 NA18951.hp2 HG02132.hp2 NA18951.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0024 a0001c0001t0002g0028 a0001c0001t0002g0024 a0001c0001t0002g0028	2	322	0.0062	27	c.549 others(44): Show c.549+7151_549+7177dupGCTAATACAGAAAAAAAAATTATTTTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	5/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13939035	G G	GTTTTTTT others(20): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02258.hp1 NA20805.hp1 HG02109.hp1 HG02258.hp1 NA20805.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0082 a0001c0001t0001g0101 a0001c0001t0001g0123 a0001c0001t0001g0082 a0001c0001t0001g0101 a0001c0001t0001g0123	3	250	0.0120	27	c.115 others(44): Show c.115-7265_115-7264insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13939040	G G	GGTTTTTT others(20): Show GGTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp2 HG01496.hp2 HG02293.hp1 others(13): Show HG00673.hp2 HG01496.hp2 HG02293.hp1 HG04228.hp1 NA18951.hp2 NA18957.hp1 NA18959.hp1 NA18966.hp1 NA18968.hp2 NA18975.hp1 NA18982.hp2 NA18984.hp2 NA18999.hp1 NA19054.hp1 NA19083.hp1 NA19084.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0001c0013 a0002c0002 others(1): Show a0001c0001 a0001c0013 a0002c0002 a0003c0005	a0001c0001t0002 a0001c0013t0002 a0002c0002t0004 others(1): Show a0001c0001t0002 a0001c0013t0002 a0002c0002t0004 a0003c0005t0002	a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0009 others(13): Show a0001c0001t0002g0003 a0001c0001t0002g0005 a0001c0001t0002g0009 a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0023 a0001c0001t0002g0024 a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0039 a0001c0001t0002g0045 a0001c0001t0002g0050 a0001c0001t0002g0065 a0001c0013t0002g0057 a0002c0002t0004g0014 a0003c0005t0002g0007	16	26	0.6154	27	c.115 others(44): Show c.115-7270_115-7269insAAAAAAAAAAAAAAAAAAAAAAAAAAC	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13944869	A A	AAGGGAGA others(20): Show AAGGGAGAAAATATGAAACAGTGATCTT	intron_variant intron_variant	MODIFIER	NA19054.hp2 NA19054.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0193 a0001c0001t0001g0193	1	322	0.0031	27	c.114 others(46): Show c.114+11206_114+11207insAAGATCACTGTTTCATATTTTCTCCC T	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	2/19			chr20	TogoVar
SEL1L2_chr20_13844247_13995614	13983023	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19011.hp2 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0120 a0001c0001t0001g0120	1	8	0.1250	27	c.58+ others(42): Show c.58+7453_58+7454insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SEL1L2	ENSG00000101251.13	transcript	ENST00000284951.10	protein_coding	1/19			chr20	TogoVar
SELENBP1_chr1_151359304_151377705	151367355	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAAAAAGAAAAG	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00639.hp2 HG01074.hp1 others(56): Show HG00099.hp2 HG00639.hp2 HG01074.hp1 HG01167.hp1 HG01167.hp2 HG01175.hp2 HG01255.hp1 HG01257.hp2 HG01258.hp2 HG01358.hp1 HG01358.hp2 HG01433.hp2 HG01496.hp2 HG01517.hp2 HG01928.hp1 HG02129.hp2 HG02155.hp1 HG02257.hp1 HG02258.hp1 HG02293.hp2 HG02523.hp1 HG02615.hp1 HG02622.hp1 HG02647.hp1 HG02738.hp2 HG02896.hp2 HG02897.hp1 HG02922.hp2 HG02970.hp1 HG03041.hp1 HG03098.hp2 HG03195.hp1 HG03225.hp2 HG03239.hp2 HG03453.hp2 HG03491.hp2 HG03516.hp1 HG03669.hp1 HG04115.hp1 HG04199.hp2 HG04228.hp1 NA18612.hp2 NA18940.hp2 NA18946.hp1 NA18949.hp2 NA18952.hp1 NA18955.hp2 NA18964.hp2 NA18979.hp2 NA18989.hp1 NA19000.hp1 NA19001.hp2 NA19004.hp1 NA19005.hp2 NA19010.hp1 NA19056.hp1 NA19060.hp1 NA19079.hp1 NA20905.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0002 a0001c0005 others(1): Show a0001c0001 a0001c0002 a0001c0005 a0002c0003	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(1): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0002c0003t0001	a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0031 others(32): Show a0001c0001t0001g0005 a0001c0001t0001g0020 a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0043 a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0087 a0001c0001t0001g0100 a0001c0001t0001g0101 a0001c0001t0001g0119 a0001c0001t0001g0131 a0001c0001t0001g0132 a0001c0001t0001g0133 a0001c0001t0001g0138 a0001c0001t0001g0149 a0001c0001t0001g0158 a0001c0001t0001g0163 a0001c0001t0001g0172 a0001c0001t0001g0173 a0001c0001t0001g0180 a0001c0001t0001g0188 a0001c0001t0001g0195 a0001c0001t0001g0204 a0001c0001t0001g0226 a0001c0001t0001g0229 a0001c0002t0001g0099 a0001c0002t0001g0130 a0001c0002t0001g0152 a0001c0005t0001g0140 a0002c0003t0001g0084 a0002c0003t0001g0120	59	139	0.4245	27	c.482 others(42): Show c.482-452_482-451insCTTTTCTTTTTTTTTTTTTTTTTTTTT	SELENBP1	ENSG00000143416.21	transcript	ENST00000368868.10	protein_coding	5/11			chr1	TogoVar
SELENOT_chr3_150598321_150635436	150631202	C C	CAAAAAAA others(20): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG02040.hp2 HG00423.hp1 HG02040.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0198 a0001c0001t0002g0200 a0001c0001t0002g0198 a0001c0001t0002g0200	2	32	0.0625	27	c.35 others(38): Show c.3573_*3574insAAAAAAAAAAAAAAAAAAAAAAAAAAA	SELENOT	ENSG00000198843.14	transcript	ENST00000471696.6	protein_coding		767		chr3	TogoVar
SEMA3B_chr3_50264147_50282546	50272855	A A	AAATAATA others(20): Show AAATAATAATAATAATAATAATAATAAT	intron_variant intron_variant	MODIFIER	NA18990.hp2 NA18990.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0089 a0002c0002t0001g0089	1	199	0.0050	27	c.665 others(42): Show c.665-417_665-416insTAATAATAATAATAATAATAATAATAA	SEMA3B	ENSG00000012171.20	transcript	ENST00000616701.5	protein_coding	6/16		INFO_REALIGN_3_PRIME	chr3	TogoVar
SEMA3E_chr7_83358238_83654139	83454272	A A	AAAAAAAT others(20): Show AAAAAAATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG03098.hp1 HG02451.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0022 a0001c0001t0022	a0001c0001t0022g0055 a0001c0001t0022g0177 a0001c0001t0022g0055 a0001c0001t0022g0177	2	188	0.0106	27	c.456 others(46): Show c.456+12209_456+12210insATATATATATATATATATATATTTTT T	SEMA3E	ENSG00000170381.15	transcript	ENST00000643230.2	protein_coding	4/16			chr7	TogoVar
SEMA5A_chr5_9030033_9551075	9341674	T T	TATATATA others(20): Show TATATATATATAATATATATAATATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0007 a0001c0007	a0001c0007t0003 a0001c0007t0003	a0001c0007t0003g0063 a0001c0007t0003g0063	1	131	0.0076	27	c.125 others(44): Show c.125-3863_125-3862insTATATATTATATATATTATATATATAT	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353096	A A	AAGGAAAG others(20): Show AAGGAAAGGAAAGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0001 a0001	a0001c0010 a0001c0010	a0001c0010t0076 a0001c0010t0076	a0001c0010t0076g0125 a0001c0010t0076g0125	1	50	0.0200	27	c.125 others(46): Show c.125-15285_125-15284insCTTCCCTTCCCTTCCCTTTCCTTTCC T	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353098	G G	GAAAGGAA others(20): Show GAAAGGAAAGGAAAGGAAAGGAAAGGGA	intron_variant intron_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0001 a0001c0006t0001	a0001c0006t0001g0024 a0001c0006t0001g0024	1	38	0.0263	27	c.125 others(46): Show c.125-15287_125-15286insTCCCTTTCCTTTCCTTTCCTTTCCTT T	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5A_chr5_9030033_9551075	9353100	A A	AAGGAAAG others(20): Show AAGGAAAGGAAAGGAAAGGAAAGGAAAG	intron_variant intron_variant	MODIFIER	HG03130.hp1 HG03130.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0066 a0001c0001t0066	a0001c0001t0066g0106 a0001c0001t0066g0106	1	100	0.0100	27	c.125 others(46): Show c.125-15289_125-15288insCTTTCCTTTCCTTTCCTTTCCTTTCC T	SEMA5A	ENSG00000112902.12	transcript	ENST00000382496.10	protein_coding	3/22			chr5	TogoVar
SEMA5B_chr3_122904082_123032763	122917829	G G	GATCAATG others(20): Show GATCAATGGTTTGATTTGAGGGTGTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01884.hp2 HG02572.hp2 others(3): Show HG00735.hp1 HG01884.hp2 HG02572.hp2 HG02647.hp1 HG02965.hp1 HG03139.hp2	a0006 a0015 a0006 a0015	a0006c0009 a0015c0017 a0006c0009 a0015c0017	a0006c0009t0003 a0006c0009t0017 a0015c0017t0016 a0006c0009t0003 a0006c0009t0017 a0015c0017t0016	a0006c0009t0003g0023 a0006c0009t0003g0039 a0006c0009t0003g0045 others(3): Show a0006c0009t0003g0023 a0006c0009t0003g0039 a0006c0009t0003g0045 a0006c0009t0017g0014 a0015c0017t0016g0011 a0015c0017t0016g0012	6	288	0.0208	27	c.168 others(46): Show c.1689-1966_1689-1940dupAAAACACCCTCAAATCAAACCATTGA T	SEMA5B	ENSG00000082684.16	transcript	ENST00000357599.8	protein_coding	12/22			chr3	TogoVar
SENP2_chr3_185581295_185638551	185631477	T T	TCTCCCTC others(20): Show TCTCCCTCCCTCCCCCTCCCCCCTCCCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01167.hp2 HG01167.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0097 a0002c0002t0097	a0002c0002t0097g0232 a0002c0002t0097g0232	1	335	0.0030	27	c.16 others(38): Show c.1634_*1635insTCCCTCCCTCCCCCTCCCCCCTCCCCC	SENP2	ENSG00000163904.13	transcript	ENST00000296257.10	protein_coding	17/17	1635	INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP5_chr3_196862920_196939714	196914586	A A	AAATATAT others(20): Show AAATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02257.hp1 HG02257.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0034 a0001c0001t0044g0034	1	67	0.0149	27	c.188 others(46): Show c.1885-8827_1885-8826insATATATATATATATATATATATATAT A	SENP5	ENSG00000119231.11	transcript	ENST00000323460.10	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr3	TogoVar
SENP6_chr6_75596880_75723281	75719958	A A	ATTTTTTT others(20): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0006 a0003c0007t0006	a0003c0007t0006g0295 a0003c0007t0006g0295	1	165	0.0061	27	c.43 others(38): Show c.4364_*4365insTTTTTTTTTTTTTTTTTTTTTTTTTTT	SENP6	ENSG00000112701.18	transcript	ENST00000447266.7	protein_coding		1678		chr6	TogoVar
SEPTIN2_chr2_241310925_241359027	241338771	T T	TATATTAT others(20): Show TATATTATATTTATATTATATATAATAC	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG03453.hp2 HG03471.hp2 HG01884.hp2 HG03453.hp2 HG03471.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0016 a0001c0001t0016	a0001c0001t0016g0049 a0001c0001t0016g0296 a0001c0001t0016g0049 a0001c0001t0016g0296	3	267	0.0112	27	c.594 others(43): Show c.594+999_594+1000insATATAATACATATTATATTTATATTAT	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEPTIN2_chr2_241310925_241359027	241338771	T T	TTATATTT others(20): Show TTATATTTATATTATTTATATATAATAC	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0129 a0001c0001t0001g0129	1	265	0.0038	27	c.594 others(42): Show c.594+981_594+982insTATATTTATATTATTTATATATAATAC	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding	7/12			chr2	TogoVar
SEPTIN2_chr2_241310925_241359027	241338820	T T	TTTATATA others(20): Show TTTATATATAATATATATTATATTTATA	intron_variant intron_variant	MODIFIER	HG01261.hp1 HG02559.hp1 HG02572.hp1 others(2): Show HG01261.hp1 HG02559.hp1 HG02572.hp1 HG02809.hp2 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0024 a0001c0001t0006 a0001c0001t0024	a0001c0001t0006g0038 a0001c0001t0006g0194 a0001c0001t0006g0195 others(1): Show a0001c0001t0006g0038 a0001c0001t0006g0194 a0001c0001t0006g0195 a0001c0001t0024g0193	5	406	0.0123	27	c.594 others(44): Show c.594+1047_594+1048insTATATTTATATTATATATAATATATAT	SEPTIN2	ENSG00000168385.18	transcript	ENST00000391971.7	protein_coding	7/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
SEPTIN9_chr17_77276499_77505593	77484979	G G	GTGGTGAT others(20): Show GTGGTGATTGTGATGGTGAAGGGGGTGA	intron_variant intron_variant	MODIFIER	NA18973.hp1 NA18973.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0064 a0001c0001t0001g0064	1	141	0.0071	27	c.914 others(44): Show c.914-2428_914-2427insAAGGGGGTGATGGTGATTGTGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000427177.6	protein_coding	4/11		INFO_REALIGN_3_PRIME	chr17	TogoVar
SEPTIN9_chr17_77314518_77505593	77484979	G G	GTGGTGAT others(20): Show GTGGTGATTGTGATGGTGAAGGGGGTGA	intron_variant intron_variant	MODIFIER	NA18973.hp2 NA18973.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0038 a0001c0001t0001g0038	1	148	0.0068	27	c.860 others(44): Show c.860-2428_860-2427insAAGGGGGTGATGGTGATTGTGATGGTG	SEPTIN9	ENSG00000184640.20	transcript	ENST00000329047.13	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr17	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAAAAAATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0023 a0001c0001t0007g0023	1	95	0.0105	27	c.92 others(38): Show c.9279_*9280insATATATATATTTTTTTTTTTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAAAATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04115.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0023 a0001c0001t0007g0023	1	95	0.0105	27	c.92 others(38): Show c.9279_*9280insATATATATATATATTTTTTTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERBP1_chr1_67402810_67435402	67403927	A A	AAAAAAAA others(20): Show AAAAAAAAAAATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01099.hp2 HG01257.hp2 HG01258.hp1 others(1): Show HG01099.hp2 HG01257.hp2 HG01258.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0035 a0001c0001t0011 a0001c0001t0035	a0001c0001t0011g0019 a0001c0001t0035g0073 a0001c0001t0011g0019 a0001c0001t0035g0073	4	98	0.0408	27	c.92 others(38): Show c.9279_*9280insATATATATATATATATATTTTTTTTTT	SERBP1	ENSG00000142864.15	transcript	ENST00000361219.11	protein_coding		3882		chr1	TogoVar
SERGEF_chr11_17783048_18018047	17896590	A A	AGGGAAGG others(20): Show AGGGAAGGGAAGGGGAAGGGAAGGGAAG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0038 a0002c0003t0001g0038	1	195	0.0051	27	c.101 others(48): Show c.1012-18347_1012-18346insCTTCCCTTCCCTTCCCCTTCCCTT CCC	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERGEF_chr11_17783048_18018047	17896623	G G	GGGAAGGG others(20): Show GGGAAGGGGAAGGGAAGGGGAAGGGGAA	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02572.hp1 HG02280.hp2 HG02572.hp1	a0006 a0006	a0006c0007 a0006c0007	a0006c0007t0001 a0006c0007t0002 a0006c0007t0001 a0006c0007t0002	a0006c0007t0001g0101 a0006c0007t0002g0147 a0006c0007t0001g0101 a0006c0007t0002g0147	2	75	0.0267	27	c.101 others(48): Show c.1012-18380_1012-18379insTTCCCCTTCCCCTTCCCTTCCCCT TCC	SERGEF	ENSG00000129158.11	transcript	ENST00000265965.10	protein_coding	9/10			chr11	TogoVar
SERHL2_chr22_42548956_42579382	42562526	A A	AGGGGAGG others(20): Show AGGGGAGGGCTCGTGGAGGACGCAGAGT	intron_variant intron_variant	MODIFIER	NA18988.hp2 NA19003.hp1 NA18988.hp2 NA19003.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0322 a0002c0002t0001g0324 a0002c0002t0001g0322 a0002c0002t0001g0324	2	430	0.0047	27	c.613 others(44): Show c.613+2271_613+2297dupTCGTGGAGGACGCAGAGTGGGGAGGGC	SERHL2	ENSG00000183569.18	transcript	ENST00000327678.10	protein_coding	8/11		INFO_REALIGN_3_PRIME	chr22	TogoVar
SERINC1_chr6_122438351_122476807	122451776	A A	AAAAAAAA others(20): Show AAAAAAAAAAAAATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00099.hp1 NA20752.hp1 HG00099.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0074 a0001c0001t0002g0079 a0001c0001t0002g0074 a0001c0001t0002g0079	2	71	0.0282	27	c.760 others(40): Show c.760-23_760-22insATATATATATATATATTTTTTTTTTTT	SERINC1	ENSG00000111897.7	transcript	ENST00000339697.5	protein_coding	6/9			chr6	TogoVar
SERINC2_chr1_31408213_31439678	31414421	T T	TGTGTGTG others(20): Show TGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18943.hp1 NA18943.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0353 a0002c0002t0001g0353	1	38	0.0263	27	c.39+ others(42): Show c.39+1117_39+1118insGTGTGTGTGTGTGTGTGTGTGTGTGTG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	1/9			chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431840	A A	ATAGGGTG others(20): Show ATAGGGTGGTTAGGGTGGTTAGGGTGGT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02486.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0011 a0001c0001t0011	a0001c0001t0011g0116 a0001c0001t0011g0116	1	351	0.0028	27	c.101 others(46): Show c.1014-1119_1014-1118insTTAGGGTGGTTAGGGTGGTTAGGGTG G	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431868	T T	TAGGATGG others(20): Show TAGGATGGTTAGGGTGGACAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0054 a0001c0003t0002g0054	1	296	0.0034	27	c.101 others(46): Show c.1014-1096_1014-1095insATGGTTAGGGTGGACAGGGTGGACAG G	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431895	T T	TAGGGTGG others(20): Show TAGGGTGGTTAGGGTGGTTAGGGTGGAC	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0025 a0001c0001t0005g0025	1	306	0.0033	27	c.101 others(46): Show c.1014-1065_1014-1064insTTAGGGTGGTTAGGGTGGACAGGGTG G	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31431958	T T	TAGGGTGG others(20): Show TAGGGTGGATAGGGTGGAGAGGGTGGAG	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0021 a0001c0001t0005g0021	1	329	0.0030	27	c.101 others(44): Show c.1014-992_1014-991insGAGGGTGGAGAGGGTGGATAGGGTGGA	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432138	C C	CAGGGTGG others(20): Show CAGGGTGGACAGGGTGGTTAGGGTGGTT	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02818.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0095 a0001c0003t0002g0095	1	179	0.0056	27	c.101 others(44): Show c.1014-813_1014-812insTTAGGGTGGTTAGGGTGGACAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432165	T T	TAGGGTGG others(20): Show TAGGGTGGATAGGGTGGATAGGATGGTC	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG00735.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0356 a0002c0002t0001g0356	1	278	0.0036	27	c.101 others(44): Show c.1014-781_1014-780insATGGTCAGGGTGGATAGGGTGGATAGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432174	T T	TAGGGTGG others(20): Show TAGGGTGGATAGGATGGTCAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA20905.hp1 NA18962.hp2 NA20905.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0174 a0001c0004t0003g0180 a0001c0004t0003g0174 a0001c0004t0003g0180	2	229	0.0087	27	c.101 others(44): Show c.1014-781_1014-780insATGGTCAGGGTGGACAGGGTGGATAGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar
SERINC2_chr1_31408213_31439678	31432174	T T	TAGGGTGG others(20): Show TAGGGTGGATAGGGTGGATAGGGTGGAC	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0054 a0001c0003t0002g0054	1	228	0.0044	27	c.101 others(44): Show c.1014-777_1014-776insATAGGGTGGACAGGGTGGATAGGGTGG	SERINC2	ENSG00000168528.12	transcript	ENST00000373709.8	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr1	TogoVar

Search by Variant

Search

Search Results