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
STAT5B_chr17_42194177_42281391	42262778	A A	ATATATAT others(41): Show ATATATATACACATATATATGTGTGTATATATACACACATATATATGTG	intron_variant intron_variant	MODIFIER	HG03688.hp1 HG04115.hp1 HG03688.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0122 a0001c0001t0003g0060 a0001c0001t0001g0122 a0001c0001t0003g0060	2	258	0.0078	48	c.-11 others(67): Show c.-11+13422_-11+13469dupCACATATATATGTGTGTATATATACA CACATATATATGTGTATATATA	STAT5B	ENSG00000173757.11	transcript	ENST00000293328.8	protein_coding	1/18			chr17	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 NA19240.hp2 HG03098.hp2 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0002 a0002c0002t0002 a0001c0001t0002 a0002c0002t0002	a0001c0001t0002g0139 a0002c0002t0002g0305 a0001c0001t0002g0139 a0002c0002t0002g0305	2	193	0.0104	48	c.762 others(67): Show c.762+35592_762+35593insAAAAAAAAAAAATATATATATATATA TATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02723.hp2 HG02723.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0293 a0002c0002t0001g0293	1	192	0.0052	48	c.762 others(67): Show c.762+35592_762+35593insAAAAAAAAAAAAAATATATATATATA TATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02895.hp2 HG02895.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0061 a0001c0001t0002g0061	1	192	0.0052	48	c.762 others(67): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAAAATATATA TATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22456972	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0054	1	192	0.0052	48	c.762 others(67): Show c.762+35592_762+35593insAAAAAAAAAAAAAAAAAAAAAATATA TATATATATATATATATATATA	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STEAP1B_chr7_22414444_22505188	22464948	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01952.hp2 HG02040.hp2 HG02109.hp1 others(4): Show HG01952.hp2 HG02040.hp2 HG02109.hp1 NA18955.hp1 NA18978.hp2 NA18997.hp2 NA19010.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0001t0002 a0002c0002t0001 a0002c0002t0002	a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0002g0146 others(4): Show a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0002g0146 a0002c0002t0001g0286 a0002c0002t0002g0227 a0002c0002t0002g0307 a0002c0002t0002g0318	7	80	0.0875	48	c.762 others(67): Show c.762+27616_762+27617insATATATATATATATATATATATATAT ATATATATATATATATATATAT	STEAP1B	ENSG00000105889.16	transcript	ENST00000678116.1	protein_coding	4/4			chr7	TogoVar
STIM2_chr4_26855841_27030381	26880600	C C	CATATATA others(41): Show CATATATATAAATATATATGTAAATATATATATAAATATATATGTAAAT	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG02109.hp1 HG02451.hp1 others(6): Show HG01192.hp2 HG02109.hp1 HG02451.hp1 HG02818.hp2 HG02965.hp2 HG03831.hp2 HG03834.hp1 NA19065.hp1 NA20300.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 others(1): Show a0001c0001t0002 a0001c0001t0003 a0001c0001t0005 a0001c0001t0015	a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0003g0162 others(6): Show a0001c0001t0002g0011 a0001c0001t0002g0012 a0001c0001t0003g0162 a0001c0001t0003g0200 a0001c0001t0005g0004 a0001c0001t0015g0329 a0001c0001t0015g0330 a0001c0001t0015g0331 a0001c0001t0015g0332	9	234	0.0385	48	c.151 others(67): Show c.151+19262_151+19309dupATAAATATATATGTAAATATATATAT AAATATATATGTAAATATATAT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STIM2_chr4_26855841_27030381	26880655	A A	ATAAATAT others(41): Show ATAAATATATATGTAAATATATATATAAATATATATGTAAATATATATG	intron_variant intron_variant	MODIFIER	HG02080.hp1 HG02080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0188 a0001c0001t0003g0188	1	332	0.0030	48	c.151 others(67): Show c.151+19309_151+19310insATAAATATATATGTAAATATATATGT AAATATATATGTAAATATATAT	STIM2	ENSG00000109689.20	transcript	ENST00000467087.7	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar
STK10_chr5_172037079_172193224	172076500	A A	AGTTGTGG others(41): Show AGTTGTGGGGGCGTCCTGTGCATTTGTTGTGGGGGCGTCCTGTGCATTT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02486.hp1 HG02630.hp2 others(12): Show HG02280.hp2 HG02486.hp1 HG02630.hp2 HG02647.hp2 HG02717.hp2 HG02895.hp2 HG02897.hp2 HG02922.hp2 HG02976.hp2 HG03041.hp2 HG03139.hp2 HG03195.hp1 NA18906.hp1 NA19240.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(6): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0006 a0001c0007 a0001c0008 a0001c0010 a0001c0031	a0001c0001t0034 a0001c0002t0018 a0001c0003t0001 others(9): Show a0001c0001t0034 a0001c0002t0018 a0001c0003t0001 a0001c0003t0011 a0001c0004t0001 a0001c0006t0004 a0001c0006t0011 a0001c0007t0001 a0001c0007t0004 a0001c0008t0009 a0001c0010t0007 a0001c0031t0014	a0001c0001t0034g0007 a0001c0002t0018g0005 a0001c0003t0001g0217 others(12): Show a0001c0001t0034g0007 a0001c0002t0018g0005 a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0011g0024 a0001c0004t0001g0015 a0001c0004t0001g0101 a0001c0006t0004g0054 a0001c0006t0011g0082 a0001c0007t0001g0040 a0001c0007t0001g0041 a0001c0007t0004g0138 a0001c0008t0009g0231 a0001c0010t0007g0050 a0001c0031t0014g0135	15	183	0.0820	48	c.198 others(67): Show c.1989+5825_1989+5826insAAATGCACAGGACGCCCCCACAACAA ATGCACAGGACGCCCCCACAAC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	12/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172076500	A A	AGTTGTGG others(41): Show AGTTGTGGGGGCGTCCTGTGCGTTAGTTGTGGGGGCGTCCTGTGCATTT	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0006 a0001c0006	a0001c0006t0003 a0001c0006t0003	a0001c0006t0003g0062 a0001c0006t0003g0062	1	169	0.0059	48	c.198 others(67): Show c.1989+5825_1989+5826insAAATGCACAGGACGCCCCCACAACTA ACGCACAGGACGCCCCCACAAC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	12/18			chr5	TogoVar
STK10_chr5_172037079_172193224	172089399	T T	TGGATGGA others(41): Show TGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGAA	intron_variant intron_variant	MODIFIER	HG02630.hp2 HG02717.hp2 HG02630.hp2 HG02717.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0217 a0001c0003t0001g0218 a0001c0003t0001g0217 a0001c0003t0001g0218	2	228	0.0088	48	c.168 others(65): Show c.1685+832_1685+833insTTCCATCCATCCATCCATCCATCCATCC ATCCATCCATCCATCCATCC	STK10	ENSG00000072786.13	transcript	ENST00000176763.10	protein_coding	10/18			chr5	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01943.hp1 NA19085.hp1 HG01943.hp1 NA19085.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0161 a0002c0003t0001g0166 a0002c0003t0001g0161 a0002c0003t0001g0166	2	132	0.0152	48	c.483 others(65): Show c.483+1630_483+1631insATATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK31_chr7_23705219_23837513	23730878	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG00642.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0159 a0002c0003t0001g0159	1	131	0.0076	48	c.483 others(65): Show c.483+1630_483+1631insATATATATATATATATATATATATTTTT TTTTTTTTTTTTTTTTTTTT	STK31	ENSG00000196335.13	transcript	ENST00000355870.8	protein_coding	6/23		INFO_REALIGN_3_PRIME	chr7	TogoVar
STK32C_chr10_132202492_132312950	132250313	A A	AGAGAGGG others(41): Show AGAGAGGGCAGGTGTGTGTGAGGCGCACGGGACAGGTCACTGCAGAGAG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG01074.hp2 others(16): Show HG01069.hp2 HG01071.hp2 HG01074.hp2 HG01192.hp1 HG01884.hp2 HG02071.hp1 HG02451.hp2 HG02622.hp1 HG02809.hp2 HG03017.hp2 HG03098.hp1 HG03098.hp2 HG03209.hp1 HG03453.hp1 HG03453.hp2 NA19030.hp1 NA19043.hp1 NA20905.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 others(3): Show a0001c0001 a0001c0002 a0001c0003 a0001c0010 a0001c0020 a0001c0022	a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 others(4): Show a0001c0001t0001 a0001c0001t0002 a0001c0002t0002 a0001c0003t0017 a0001c0010t0018 a0001c0020t0002 a0001c0022t0003	a0001c0001t0001g0072 a0001c0001t0001g0107 a0001c0001t0001g0111 others(16): Show a0001c0001t0001g0072 a0001c0001t0001g0107 a0001c0001t0001g0111 a0001c0001t0001g0131 a0001c0001t0001g0146 a0001c0001t0001g0189 a0001c0001t0002g0050 a0001c0001t0002g0187 a0001c0001t0002g0188 a0001c0001t0002g0190 a0001c0001t0002g0293 a0001c0002t0002g0038 a0001c0002t0002g0056 a0001c0002t0002g0186 a0001c0002t0002g0339 a0001c0003t0017g0191 a0001c0010t0018g0196 a0001c0020t0002g0284 a0001c0022t0003g0292	19	229	0.0830	48	c.263 others(65): Show c.263-4406_263-4359dupCTCTCTGCAGTGACCTGTCCCGTGCGCC TCACACACACCTGCCCTCTC	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STK32C_chr10_132202492_132312950	132253525	C C	CGGAGGGA others(41): Show CGGAGGGAGCTGGAGGGAGTCGAGGGAGCTGGAGGGAGTCGAGGGAGCT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0295 a0001c0001t0001g0295	1	358	0.0028	48	c.263 others(65): Show c.263-7618_263-7571dupAGCTCCCTCGACTCCCTCCAGCTCCCTC GACTCCCTCCAGCTCCCTCC	STK32C	ENSG00000165752.17	transcript	ENST00000298630.8	protein_coding	1/11			chr10	TogoVar
STK33_chr11_8386870_8599228	8439869	T T	TTATATAT others(41): Show TTATATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19068.hp1 NA19068.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0188 a0001c0002t0001g0188	1	127	0.0079	48	c.947 others(63): Show c.947+808_947+809insTATATATATATATATATATATATATATATA TATATATATATATATATA	STK33	ENSG00000130413.16	transcript	ENST00000687296.1	protein_coding	12/15			chr11	TogoVar
STON1_chr2_48525154_48603513	48555327	C C	CCCCCACC others(41): Show CCCCCACCTCCCTCCCGGACGGGGCTGCTGGCCGGGCGGGGGGCTGACG	intron_variant intron_variant	MODIFIER	HG02717.hp1 HG02717.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0034 a0001c0003t0034	a0001c0003t0034g0027 a0001c0003t0034g0027	1	146	0.0068	48	c.-48 others(67): Show c.-48+25115_-48+25116insACCTCCCTCCCGGACGGGGCTGCTGG CCGGGCGGGGGGCTGACGCCCC	STON1	ENSG00000243244.7	transcript	ENST00000404752.6	protein_coding	1/3		INFO_REALIGN_3_PRIME	chr2	TogoVar
STRN_chr2_36832698_36971536	36966898	A A	AACACACA others(41): Show AACACACACACACACACACACACACACACACACACACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01517.hp2 HG01517.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0262 a0001c0001t0003g0262	1	100	0.0100	48	c.-43 others(57): Show c.-436_-435insGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGT	STRN	ENSG00000115808.13	transcript	ENST00000263918.9	protein_coding		363		chr2	TogoVar
STX2_chr12_130784600_130844250	130818185	A A	AAAAAAAA others(41): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19091.hp1 NA19091.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0014 a0003c0003t0003g0014	1	213	0.0047	48	c.205 others(65): Show c.205+3503_205+3504insATATATATATATATATATATATATATAT ATATATTTTTTTTTTTTTTT	STX2	ENSG00000111450.15	transcript	ENST00000392373.7	protein_coding	3/10			chr12	TogoVar
STX6_chr1_180967725_181027870	181023028	A A	ATATATAT others(41): Show ATATATATATATATATATATATATCTCTCTCTCTCTCTCTCTCTCTCTC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0320 a0001c0002t0003g0320	1	278	0.0036	48	c.-35 others(57): Show c.-356_-355insGAGAGAGAGAGAGAGAGAGAGAGAGATATATATATA TATATATATATA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		159		chr1	TogoVar
STX6_chr1_180967725_181027870	181023145	C C	CTCTCTCT others(41): Show CTCTCTCTCCTCTCTCTTCTCTCTCTCTCTCCTCTCTCCTCTCTCCTCT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA20905.hp2 NA20905.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0029 a0001c0001t0029	a0001c0001t0029g0314 a0001c0001t0029g0314	1	337	0.0030	48	c.-47 others(57): Show c.-473_-472insAGAGGAGAGAGGAGAGAGGAGAGAGAGAGAGAAGAG AGAGGAGAGAGA	STX6	ENSG00000135823.14	transcript	ENST00000258301.6	protein_coding		276		chr1	TogoVar
STXBP3_chr1_108741674_108814523	108771862	C C	CATATATA others(41): Show CATATATAAATACATATGATATCTATATATCATATATAAATACATATGA	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG02717.hp1 NA20129.hp2 HG00642.hp2 HG02717.hp1 NA20129.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0291 a0001c0001t0001g0297 a0001c0001t0001g0298	3	230	0.0130	48	c.439 others(63): Show c.439-803_439-802insATATATAAATACATATGATATCTATATATC ATATATAAATACATATGA	STXBP3	ENSG00000116266.11	transcript	ENST00000370008.4	protein_coding	6/18			chr1	TogoVar
SUGT1_chr13_52647836_52705909	52702972	A A	ATTTATCT others(41): Show ATTTATCTTCGACTGCATTTTTCTTTATCCTAGTGCTGTTTCCCTGGAG	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0065 a0001c0001t0065	a0001c0001t0065g0002 a0001c0001t0065g0002	1	308	0.0032	48	c.15 others(61): Show c.15137_*15138insTTTATCTTCGACTGCATTTTTCTTTATCCTAG TGCTGTTTCCCTGGAG	SUGT1	ENSG00000165416.15	transcript	ENST00000310528.9	protein_coding		2064		chr13	TogoVar
SUPT3H_chr6_44821726_45382934	44928882	C C	CAAAATAA others(41): Show CAAAATAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0018 a0001c0001t0006g0018	1	106	0.0094	48	c.912 others(65): Show c.912+3770_912+3771insTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTATTTATTTT	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	10/10			chr6	TogoVar
SUPT3H_chr6_44821726_45382934	45230660	G G	GCCTATAT others(41): Show GCCTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19081.hp1 NA19081.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0253 a0001c0001t0001g0253	1	121	0.0083	48	c.102 others(69): Show c.102-124655_102-124654insTATATATATATATATATATATATA TATATATATATATATATATATAGG	SUPT3H	ENSG00000196284.18	transcript	ENST00000371459.6	protein_coding	2/10			chr6	TogoVar
SUSD1_chr9_112035783_112180297	112138240	T T	TATATATA others(41): Show TATATATATATATATATATATATATATATATATATATATGTATATACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG03453.hp2 HG02257.hp2 HG03453.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0035 a0001c0001t0001g0082 a0001c0001t0001g0035 a0001c0001t0001g0082	2	289	0.0069	48	c.706 others(65): Show c.706+4079_706+4080insGTGTATATACATATATATATATATATAT ATATATATATATATATATAT	SUSD1	ENSG00000106868.17	transcript	ENST00000374270.8	protein_coding	5/16			chr9	TogoVar
SV2C_chr5_76078383_76338956	76172080	T T	TGCCCGGC others(41): Show TGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGGTCAGCCCCCC	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02523.hp1 HG03195.hp2 others(4): Show HG02083.hp1 HG02523.hp1 HG03195.hp2 NA19007.hp1 NA19081.hp2 NA19083.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0001c0009 a0003c0004 a0001c0001 a0001c0009 a0003c0004	a0001c0001t0002 a0001c0001t0022 a0001c0001t0077 others(4): Show a0001c0001t0002 a0001c0001t0022 a0001c0001t0077 a0001c0001t0092 a0001c0009t0076 a0003c0004t0019 a0003c0004t0058	a0001c0001t0002g0094 a0001c0001t0022g0214 a0001c0001t0077g0212 others(4): Show a0001c0001t0002g0094 a0001c0001t0022g0214 a0001c0001t0077g0212 a0001c0001t0092g0211 a0001c0009t0076g0213 a0003c0004t0019g0145 a0003c0004t0058g0051	7	232	0.0302	48	c.581 others(67): Show c.581-22823_581-22822insCGTCCGGGAGGGAGGTGGGGGGTCAG CCCCCCGCCCGGCCAGCCGCCC	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SV2C_chr5_76078383_76338956	76172289	G G	GGGGGGGT others(41): Show GGGGGGGTCGGCCCCCCGCCCGGCCAGCCGCCCCGTCCGGGAGGGAGGT	intron_variant intron_variant	MODIFIER	HG02083.hp1 HG02523.hp1 NA19007.hp1 others(2): Show HG02083.hp1 HG02523.hp1 NA19007.hp1 NA19081.hp2 NA19088.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0004 a0001c0001 a0003c0004	a0001c0001t0022 a0001c0001t0077 a0001c0001t0092 others(2): Show a0001c0001t0022 a0001c0001t0077 a0001c0001t0092 a0003c0004t0019 a0003c0004t0058	a0001c0001t0022g0214 a0001c0001t0077g0212 a0001c0001t0092g0211 others(2): Show a0001c0001t0022g0214 a0001c0001t0077g0212 a0001c0001t0092g0211 a0003c0004t0019g0145 a0003c0004t0058g0051	5	230	0.0217	48	c.581 others(67): Show c.581-22624_581-22623insTCGGCCCCCCGCCCGGCCAGCCGCCC CGTCCGGGAGGGAGGTGGGGGG	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SV2C_chr5_76078383_76338956	76172408	C C	CCGGGAGG others(41): Show CCGGGAGGGAGGTGGGGGGGTCAGCCCCCCGCCCGGCCAGCCGCCCCGT	intron_variant intron_variant	MODIFIER	HG02015.hp2 NA18951.hp2 NA18975.hp1 others(1): Show HG02015.hp2 NA18951.hp2 NA18975.hp1 NA19068.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0003 a0001c0001 a0002c0003	a0001c0001t0001 a0001c0001t0054 a0001c0001t0055 others(1): Show a0001c0001t0001 a0001c0001t0054 a0001c0001t0055 a0002c0003t0059	a0001c0001t0001g0057 a0001c0001t0054g0063 a0001c0001t0055g0064 others(1): Show a0001c0001t0001g0057 a0001c0001t0054g0063 a0001c0001t0055g0064 a0002c0003t0059g0043	4	232	0.0172	48	c.581 others(67): Show c.581-22492_581-22491insTCAGCCCCCCGCCCGGCCAGCCGCCC CGTCGGGAGGGAGGTGGGGGGG	SV2C	ENSG00000122012.14	transcript	ENST00000502798.7	protein_coding	2/12		INFO_REALIGN_3_PRIME	chr5	TogoVar
SVEP1_chr9_110360248_110584741	110390336	C C	CTTATATA others(41): Show CTTATATAAGTATATATATACTTATATATATACTTATATAAGTATATAT	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19080.hp2 NA19010.hp1 NA19080.hp2	a0009 a0016 a0009 a0016	a0009c0010 a0016c0012 a0009c0010 a0016c0012	a0009c0010t0003 a0016c0012t0003 a0009c0010t0003 a0016c0012t0003	a0009c0010t0003g0169 a0016c0012t0003g0304 a0009c0010t0003g0169 a0016c0012t0003g0304	2	295	0.0068	48	c.982 others(65): Show c.9823-750_9823-749insATATATACTTATATAAGTATATATATAA GTATATATATACTTATATAA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVEP1_chr9_110360248_110584741	110392133	T T	TTTTATAT others(41): Show TTTTATATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01515.hp2	a0025 a0025	a0025c0087 a0025c0087	a0025c0087t0002 a0025c0087t0002	a0025c0087t0002g0352 a0025c0087t0002g0352	1	217	0.0046	48	c.982 others(67): Show c.9823-2547_9823-2546insTATATATATATATATATATATATATA TATATATATATATATATATAAA	SVEP1	ENSG00000165124.19	transcript	ENST00000374469.6	protein_coding	40/47			chr9	TogoVar
SVOP_chr12_108902741_109026068	108903287	G G	GAGAAAGG others(41): Show GAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01243.hp2 HG02897.hp2 NA19000.hp1 HG01243.hp2 HG02897.hp2 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0049 a0001c0002t0023 a0001c0002t0074 a0001c0001t0049 a0001c0002t0023 a0001c0002t0074	a0001c0001t0049g0017 a0001c0002t0023g0279 a0001c0002t0074g0264 a0001c0001t0049g0017 a0001c0002t0023g0279 a0001c0002t0074g0264	3	108	0.0278	48	c.92 others(59): Show c.9247_*9248insTCCTTCCTTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCTTTCT	SVOP	ENSG00000166111.10	transcript	ENST00000610966.5	protein_coding		4453		chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18941.hp2 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0126 a0001c0001t0001g0126	1	120	0.0083	48	c.236 others(63): Show c.236-828_236-827insAAAAAAAAAAAAAATATATATATATATATA TATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0111 a0001c0001t0001g0111	1	120	0.0083	48	c.236 others(63): Show c.236-828_236-827insAAAAAAAAAAAAAAAATATATATATATATA TATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYCP3_chr12_101723648_101744462	101735871	A A	ATATATAT others(41): Show ATATATATATATATATATATATATATATATATTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA18975.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0096	1	120	0.0083	48	c.236 others(63): Show c.236-828_236-827insAAAAAAAAAAAAAAAAAATATATATATATA TATATATATATATATATA	SYCP3	ENSG00000139351.15	transcript	ENST00000392924.2	protein_coding	4/8			chr12	TogoVar
SYK_chr9_90796819_90903549	90884150	T T	TGTATATA others(41): Show TGTATATATATATATACACATACGTGTATATATACACACATACACATAC	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0359 a0001c0001t0015g0359	1	257	0.0039	48	c.158 others(67): Show c.1582-3597_1582-3596insATATATATATATACACATACGTGTAT ATATACACACATACACATACGT	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884218	C C	CATACACA others(41): Show CATACACATACGTGTATATATACACATACACATACACATACGTGTATAT	intron_variant intron_variant	MODIFIER	HG00558.hp2 HG01109.hp2 HG02055.hp1 others(18): Show HG00558.hp2 HG01109.hp2 HG02055.hp1 HG02056.hp2 HG02071.hp1 HG02818.hp2 HG03041.hp2 HG03195.hp2 HG03209.hp1 HG03239.hp2 HG03834.hp2 NA18747.hp1 NA18940.hp1 NA18943.hp2 NA18947.hp1 NA18953.hp2 NA18954.hp2 NA18980.hp1 NA19004.hp1 NA19066.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 others(4): Show a0001c0001t0001 a0001c0001t0006 a0001c0001t0012 a0001c0001t0027 a0001c0001t0036 a0001c0001t0054 a0001c0001t0056	a0001c0001t0001g0074 a0001c0001t0001g0100 a0001c0001t0001g0106 others(18): Show a0001c0001t0001g0074 a0001c0001t0001g0100 a0001c0001t0001g0106 a0001c0001t0001g0137 a0001c0001t0001g0183 a0001c0001t0001g0185 a0001c0001t0001g0200 a0001c0001t0001g0207 a0001c0001t0001g0271 a0001c0001t0001g0283 a0001c0001t0001g0293 a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0006g0322 a0001c0001t0012g0303 a0001c0001t0012g0371 a0001c0001t0027g0357 a0001c0001t0027g0362 a0001c0001t0036g0336 a0001c0001t0054g0222 a0001c0001t0056g0141	21	315	0.0667	48	c.158 others(67): Show c.1582-3528_1582-3527insCACATACGTGTATATATACACATACA CATACACATACGTGTATATATA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYK_chr9_90796819_90903549	90884477	A A	ATATACAC others(41): Show ATATACACATGTGTGTACATATACATACATATACACATGTGTGTACATG	intron_variant intron_variant	MODIFIER	NA18994.hp2 NA18994.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0011 a0001c0003t0011	a0001c0003t0011g0192 a0001c0003t0011g0192	1	338	0.0030	48	c.158 others(67): Show c.1582-3270_1582-3269insTACACATGTGTGTACATATACATACA TATACACATGTGTGTACATGTA	SYK	ENSG00000165025.15	transcript	ENST00000375754.9	protein_coding	11/13		INFO_REALIGN_3_PRIME	chr9	TogoVar
SYN3_chr22_32502820_33063381	32758681	C C	CATATATA others(41): Show CATATATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00735.hp1 HG02040.hp1 others(1): Show HG00673.hp1 HG00735.hp1 HG02040.hp1 HG02071.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0066 a0001c0001t0001 a0001c0001t0002 a0001c0001t0066	a0001c0001t0001g0029 a0001c0001t0001g0051 a0001c0001t0002g0057 others(1): Show a0001c0001t0001g0029 a0001c0001t0001g0051 a0001c0001t0002g0057 a0001c0001t0066g0052	4	14	0.2857	48	c.711 others(69): Show c.711+106233_711+106234insATATATATATATATATATATATAT ATATATATATATATATATATATAT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32814324	A A	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGG	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0167 a0002c0002t0004g0167	1	21	0.0476	48	c.711 others(67): Show c.711+50590_711+50591insCCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYN3_chr22_32502820_33063381	32814324	A A	AAAGAAAG others(41): Show AAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGGAAGAAAGG	intron_variant intron_variant	MODIFIER	HG03239.hp2 HG03453.hp1 HG03831.hp2 others(3): Show HG03239.hp2 HG03453.hp1 HG03831.hp2 NA19240.hp1 NA20129.hp2 NA21309.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0009 a0001c0001t0032 a0002c0002t0005	a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0003g0169 others(3): Show a0001c0001t0001g0020 a0001c0001t0001g0035 a0001c0001t0003g0169 a0001c0001t0009g0090 a0001c0001t0032g0150 a0002c0002t0005g0089	6	26	0.2308	48	c.711 others(67): Show c.711+50590_711+50591insCCTTTCTTCCTTTCTTTCTTTCTTTC TTTCTTTCTTTCTTTCTTTCTT	SYN3	ENSG00000185666.16	transcript	ENST00000358763.7	protein_coding	6/13			chr22	TogoVar
SYNCRIP_chr6_85608976_85647886	85621913	T T	TGTAGGCG others(41): Show TGTAGGCGACTTCATTACAAGATTGTGATGGCTATACAATTATGGCTAA	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02630.hp2 HG02559.hp2 HG02630.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0055 a0001c0001t0001g0056	2	362	0.0055	48	c.100 others(65): Show c.1008+521_1008+568dupTTAGCCATAATTGTATAGCCATCACAAT CTTGTAATGAAGTCGCCTAC	SYNCRIP	ENSG00000135316.20	transcript	ENST00000369622.8	protein_coding	8/10			chr6	TogoVar
SYNE3_chr14_95402266_95521650	95429967	T T	TAAGGAAG others(41): Show TAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG02809.hp1 HG02818.hp1 others(3): Show HG00639.hp2 HG02809.hp1 HG02818.hp1 HG02896.hp1 HG02897.hp2 HG06807.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0022 a0001c0032 a0002c0041 others(2): Show a0001c0022 a0001c0032 a0002c0041 a0003c0004 a0006c0044	a0001c0022t0163 a0001c0032t0166 a0002c0041t0143 others(2): Show a0001c0022t0163 a0001c0032t0166 a0002c0041t0143 a0003c0004t0031 a0006c0044t0030	a0001c0022t0163g0191 a0001c0032t0166g0251 a0002c0041t0143g0003 others(3): Show a0001c0022t0163g0191 a0001c0032t0166g0251 a0002c0041t0143g0003 a0003c0004t0031g0080 a0006c0044t0030g0041 a0006c0044t0030g0042	6	85	0.0706	48	c.272 others(67): Show c.2727+2111_2727+2112insCCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTTCCTTCCTTCCTT	SYNE3	ENSG00000176438.13	transcript	ENST00000682763.1	protein_coding	17/17			chr14	TogoVar
SYNJ1_chr21_32623763_32733013	32713548	A A	AGATGATT others(41): Show AGATGATTTCCCATATGTCAACATGGATGATTTCCCATATGTCAACATG	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG01261.hp2 HG02698.hp1 HG01168.hp1 HG01261.hp2 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0002g0281 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0002g0281	3	282	0.0106	48	c.125 others(67): Show c.125-11549_125-11502dupCATGTTGACATATGGGAAATCATCCA TGTTGACATATGGGAAATCATC	SYNJ1	ENSG00000159082.18	transcript	ENST00000674351.1	protein_coding	2/32			chr21	TogoVar
SYNJ1_chr21_32623763_32733013	32713636	G G	GTCAACAT others(41): Show GTCAACATGGATGATTTCCCATATATCAACATGGATGATTTCCCATATA	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0141 a0002c0002t0001g0141	1	177	0.0056	48	c.125 others(67): Show c.125-11637_125-11590dupTATATGGGAAATCATCCATGTTGATA TATGGGAAATCATCCATGTTGA	SYNJ1	ENSG00000159082.18	transcript	ENST00000674351.1	protein_coding	2/32			chr21	TogoVar
SYNM_chr15_99100080_99140593	99104555	A A	ATATATAT others(41): Show ATATATATATATATATATATTATATATATATATTTTTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19003.hp2 NA19003.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0004 a0003c0003t0003g0004	1	59	0.0169	48	c.-64 others(57): Show c.-645_-644insTATATATATATATATATATTATATATATATATTTTT TTTTTTTTTTTT	SYNM	ENSG00000182253.15	transcript	ENST00000336292.11	protein_coding		524		chr15	TogoVar
SYNPO2_chr4_118883854_119066247	119007239	T T	TATACATA others(41): Show TATACATATATATATATATATGTATATACATATATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0007 a0002c0003t0007	a0002c0003t0007g0108 a0002c0003t0007g0108	1	307	0.0033	48	c.106 others(67): Show c.106-16188_106-16187insCATATATATATATATATGTATATACA TATATATATATGTATATACATA	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	119007254	A A	ATATATAT others(41): Show ATATATATATGTATATATATACATATATATATGTATATACATATATATG	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0004 a0004	a0004c0039 a0004c0039	a0004c0039t0011 a0004c0039t0011	a0004c0039t0011g0044 a0004c0039t0011g0044	1	307	0.0033	48	c.106 others(67): Show c.106-16167_106-16166insGTATATATATACATATATATATGTAT ATACATATATATGTATATATAT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPO2_chr4_118883854_119066247	119007261	T T	TATATGTA others(41): Show TATATGTATATACATATATATATGTATATACATATATATATGTATATAC	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02896.hp1 HG02897.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0024 a0002c0003t0024	a0002c0003t0024g0161 a0002c0003t0024g0184 a0002c0003t0024g0161 a0002c0003t0024g0184	2	305	0.0066	48	c.106 others(67): Show c.106-16165_106-16164insGTATATACATATATATATGTATATAC ATATATATATGTATATACATAT	SYNPO2	ENSG00000172403.11	transcript	ENST00000307142.9	protein_coding	1/4		INFO_REALIGN_3_PRIME	chr4	TogoVar
SYNPR_chr3_63273308_63621924	63313916	T T	TATATATA others(41): Show TATATATATCCATATATATATCCATATATATATCCATATATATATATCC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0021 a0001c0001t0001g0021	1	228	0.0044	48	c.84+ others(65): Show c.84+35182_84+35183insCCATATATATATCCATATATATATCCAT ATATATATATCCATATATAT	SYNPR	ENSG00000163630.11	transcript	ENST00000478300.6	protein_coding	2/5		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results