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
AR_chrX_67539021_67735619	67723312	C C	CTCTGTGT others(5): Show CTCTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02723.hp2 HG02922.hp1 others(1): Show HG02451.hp2 HG02723.hp2 HG02922.hp1 HG03130.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0010	a0001c0009 a0002c0010 a0004c0004 others(1): Show a0001c0009 a0002c0010 a0004c0004 a0010c0035	a0001c0009t0033 a0002c0010t0008 a0004c0004t0031 others(1): Show a0001c0009t0033 a0002c0010t0008 a0004c0004t0031 a0010c0035t0014	a0001c0009t0033g0138 a0002c0010t0008g0156 a0004c0004t0031g0170 others(1): Show a0001c0009t0033g0138 a0002c0010t0008g0156 a0004c0004t0031g0170 a0010c0035t0014g0157	4	97	0.0412	12	c.260 others(29): Show c.2607+329_2607+330insCTGTGTGTGTGT	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67723312	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02055.hp1	a0008 a0008	a0008c0017 a0008c0017	a0008c0017t0005 a0008c0017t0005	a0008c0017t0005g0174 a0008c0017t0005g0174	1	94	0.0106	12	c.260 others(29): Show c.2608-344_2608-333dupGTGTGTGTGTGT	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67723520	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0092 a0001c0001t0001g0092	1	31	0.0323	12	c.260 others(29): Show c.2608-157_2608-146dupACACACACACAC	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	7/7		INFO_REALIGN_3_PRIME	chrX	TogoVar
AR_chrX_67539021_67735619	67728574	A A	AATATATA others(5): Show AATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00741.hp1 HG01099.hp1 HG01169.hp1 others(6): Show HG00741.hp1 HG01099.hp1 HG01169.hp1 HG02735.hp1 HG02896.hp1 HG06807.hp1 NA18984.hp1 NA19005.hp1 NA19009.hp1	a0002 a0003 a0005 others(4): Show a0002 a0003 a0005 a0006 a0007 a0009 a0011	a0002c0005 a0002c0010 a0003c0002 others(5): Show a0002c0005 a0002c0010 a0003c0002 a0005c0011 a0006c0003 a0007c0008 a0009c0012 a0011c0013	a0002c0005t0009 a0002c0010t0018 a0003c0002t0009 others(5): Show a0002c0005t0009 a0002c0010t0018 a0003c0002t0009 a0005c0011t0009 a0006c0003t0009 a0007c0008t0018 a0009c0012t0041 a0011c0013t0009	a0002c0005t0009g0035 a0002c0010t0018g0165 a0003c0002t0009g0028 others(6): Show a0002c0005t0009g0035 a0002c0010t0018g0165 a0003c0002t0009g0028 a0005c0011t0009g0074 a0005c0011t0009g0094 a0006c0003t0009g0084 a0007c0008t0018g0130 a0009c0012t0041g0114 a0011c0013t0009g0047	9	34	0.2647	12	c.47 others(23): Show c.4763_*4774dupTATATATATATA	AR	ENSG00000169083.18	transcript	ENST00000374690.9	protein_coding	8/8	4775	INFO_REALIGN_3_PRIME	chrX	TogoVar
AS3MT_chr10_102864470_102906899	102871546	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03098.hp2 HG03225.hp2 others(1): Show HG03041.hp1 HG03098.hp2 HG03225.hp2 HG04115.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0026 a0001c0002t0004 a0001c0002t0022 a0001c0001t0026 a0001c0002t0004 a0001c0002t0022	a0001c0001t0026g0098 a0001c0002t0004g0068 a0001c0002t0004g0069 others(1): Show a0001c0001t0026g0098 a0001c0002t0004g0068 a0001c0002t0004g0069 a0001c0002t0022g0067	4	32	0.1250	12	c.171 others(27): Show c.171-881_171-870dupAAAAAAAAAAAA	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	3/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102889598	C C	CCTTGCCT others(5): Show CCTTGCCTGTCTG	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0031 a0001c0002t0004g0031	1	360	0.0028	12	c.886 others(27): Show c.886-945_886-944insTTGCCTGTCTGC	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102889607	T T	TCTGCCTG others(5): Show TCTGCCTGCCTGC	intron_variant intron_variant	MODIFIER	HG02896.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0173 a0001c0001t0020g0173	1	314	0.0032	12	c.886 others(27): Show c.886-927_886-926insGCCTGCCTGCCT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102889614	G G	GCCTTCCT others(5): Show GCCTTCCTTCCTT	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00642.hp1 HG01106.hp1 others(10): Show HG00408.hp1 HG00642.hp1 HG01106.hp1 HG01255.hp1 NA18954.hp1 NA18965.hp2 NA18973.hp2 NA18975.hp1 NA18991.hp1 NA19010.hp2 NA19054.hp2 NA19056.hp2 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0010 a0001c0001t0011 a0001c0001t0001 a0001c0001t0010 a0001c0001t0011	a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0267 others(8): Show a0001c0001t0001g0023 a0001c0001t0001g0025 a0001c0001t0001g0267 a0001c0001t0001g0297 a0001c0001t0001g0298 a0001c0001t0001g0299 a0001c0001t0001g0300 a0001c0001t0001g0301 a0001c0001t0001g0317 a0001c0001t0010g0148 a0001c0001t0011g0296	13	122	0.1066	12	c.886 others(27): Show c.886-909_886-898dupCCTTCCTTCCTT	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
AS3MT_chr10_102864470_102906899	102894352	G G	GGTGGAGG others(5): Show GGTGGAGGTTGCA	intron_variant intron_variant	MODIFIER	NA18974.hp2 NA18974.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0144 a0001c0001t0002g0144	1	360	0.0028	12	c.102 others(31): Show c.1020+3678_1020+3689dupGAGGTTGCAGTG	AS3MT	ENSG00000214435.9	transcript	ENST00000369880.8	protein_coding	10/10		INFO_REALIGN_3_PRIME	chr10	TogoVar
ASAH2_chr10_50179861_50256516	50187084	C C	CCTCTCTC others(5): Show CCTCTCTCTCTCT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02027.hp2 NA18948.hp2 HG02027.hp2 NA18948.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0003 a0002c0001 a0003c0003	a0002c0001t0003 a0003c0003t0003 a0002c0001t0003 a0003c0003t0003	a0002c0001t0003g0313 a0003c0003t0003g0158 a0002c0001t0003g0313 a0003c0003t0003g0158	2	320	0.0063	12	c.21 others(21): Show c.219_*230dupAGAGAGAGAGAG	ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	21/21	230		chr10	TogoVar
ASAH2_chr10_50179861_50256516	50187116	T T	TCACATAC others(5): Show TCACATACACACA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0008 a0008	a0008c0023 a0008c0023	a0008c0023t0037 a0008c0023t0037	a0008c0023t0037g0343 a0008c0023t0037g0343	1	369	0.0027	12	c.19 others(21): Show c.198_*199insTGTGTGTATGTG	ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	21/21	198		chr10	TogoVar
ASAH2_chr10_50179861_50256516	50206537	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG01515.hp2 HG01981.hp2 HG02698.hp2 others(2): Show HG01515.hp2 HG01981.hp2 HG02698.hp2 HG03239.hp1 NA18952.hp1	a0001 a0002 a0001 a0002	a0001c0002 a0001c0005 a0002c0001 a0001c0002 a0001c0005 a0002c0001	a0001c0002t0011 a0001c0005t0053 a0002c0001t0003 others(1): Show a0001c0002t0011 a0001c0005t0053 a0002c0001t0003 a0002c0001t0017	a0001c0002t0011g0118 a0001c0005t0053g0258 a0002c0001t0003g0204 others(2): Show a0001c0002t0011g0118 a0001c0005t0053g0258 a0002c0001t0003g0204 a0002c0001t0003g0307 a0002c0001t0017g0317	5	53	0.0943	12	c.141 others(29): Show c.1415-452_1415-441dupGTGTGTGTGTGT	ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	12/20			chr10	TogoVar
ASAH2_chr10_50179861_50256516	50212182	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG01123.hp1 HG03098.hp1 HG03834.hp2 others(5): Show HG01123.hp1 HG03098.hp1 HG03834.hp2 NA18522.hp1 NA18942.hp1 NA18997.hp2 NA19079.hp2 NA19083.hp1	a0001 a0004 a0001 a0004	a0001c0002 a0004c0013 a0001c0002 a0004c0013	a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 others(2): Show a0001c0002t0004 a0001c0002t0007 a0001c0002t0008 a0001c0002t0048 a0004c0013t0004	a0001c0002t0004g0259 a0001c0002t0007g0019 a0001c0002t0007g0097 others(4): Show a0001c0002t0004g0259 a0001c0002t0007g0019 a0001c0002t0007g0097 a0001c0002t0008g0112 a0001c0002t0048g0089 a0004c0013t0004g0076 a0004c0013t0004g0077	8	201	0.0398	12	c.122 others(29): Show c.1227+778_1227+789dupGTGTGTGTGTGT	ASAH2	ENSG00000188611.17	transcript	ENST00000682911.1	protein_coding	10/20			chr10	TogoVar
ASAP1_chr8_130047104_130448674	130064893	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0272 a0001c0001t0001g0272	1	106	0.0094	12	c.270 others(31): Show c.2702-3836_2702-3825dupCACACACACACA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130070902	A A	AGGGAGAG others(5): Show AGGGAGAGAGAGG	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG02451.hp1 HG02922.hp2 others(1): Show HG02280.hp2 HG02451.hp1 HG02922.hp2 NA20129.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0006 a0002c0002t0006	a0002c0002t0006g0304 a0002c0002t0006g0305 a0002c0002t0006g0306 others(1): Show a0002c0002t0006g0304 a0002c0002t0006g0305 a0002c0002t0006g0306 a0002c0002t0006g0307	4	251	0.0159	12	c.270 others(31): Show c.2701+5434_2701+5445dupCCTCTCTCTCCC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130071009	G G	GGAGAGAG others(5): Show GGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG03831.hp2 HG04184.hp2 HG06807.hp1 others(2): Show HG03831.hp2 HG04184.hp2 HG06807.hp1 NA18522.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0013 a0001c0001t0032 a0001c0001t0001 a0001c0001t0013 a0001c0001t0032	a0001c0001t0001g0048 a0001c0001t0001g0243 a0001c0001t0001g0254 others(2): Show a0001c0001t0001g0048 a0001c0001t0001g0243 a0001c0001t0001g0254 a0001c0001t0013g0302 a0001c0001t0032g0297	5	220	0.0227	12	c.270 others(31): Show c.2701+5338_2701+5339insTCTCTCTCTCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130071011	G G	GGAGAGAG others(5): Show GGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01123.hp2 HG02004.hp2 others(9): Show HG00609.hp2 HG01123.hp2 HG02004.hp2 HG02071.hp1 HG03710.hp1 NA18960.hp1 NA18963.hp1 NA18973.hp1 NA18990.hp2 NA18994.hp2 NA19003.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0017 a0001c0001t0024	a0001c0001t0001g0056 a0001c0001t0001g0196 a0001c0001t0002g0044 others(9): Show a0001c0001t0001g0056 a0001c0001t0001g0196 a0001c0001t0002g0044 a0001c0001t0002g0162 a0001c0001t0002g0180 a0001c0001t0002g0187 a0001c0001t0002g0194 a0001c0001t0002g0207 a0001c0001t0002g0210 a0001c0001t0002g0211 a0001c0001t0017g0198 a0001c0001t0024g0209	12	88	0.1364	12	c.270 others(31): Show c.2701+5325_2701+5336dupTCTCTCTCTCTC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072791	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	184	0.0054	12	c.270 others(31): Show c.2701+3556_2701+3557insCACACACACACA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130072824	T T	TGTGTGTG others(5): Show TGTGTGTGTGTGC	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02897.hp2 HG02055.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0255 a0001c0001t0001g0159 a0001c0001t0001g0255	2	153	0.0131	12	c.270 others(31): Show c.2701+3523_2701+3524insGCACACACACAC	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130074486	C C	CACACACA others(5): Show CACACACACAGAG	intron_variant intron_variant	MODIFIER	HG02300.hp2 HG02300.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0031 a0002c0003t0001g0031	1	110	0.0091	12	c.270 others(31): Show c.2701+1861_2701+1862insCTCTGTGTGTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	27/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130101732	A A	ATTTTTTT others(5): Show ATTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp2 NA19043.hp2 HG02572.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0021 a0001c0001t0001 a0001c0001t0021	a0001c0001t0001g0254 a0001c0001t0021g0263 a0001c0001t0001g0254 a0001c0001t0021g0263	2	69	0.0290	12	c.240 others(31): Show c.2402-9601_2402-9590dupAAAAAAAAAAAA	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	24/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130131153	A A	AAAACAAA others(5): Show AAAACAAACAAAC	intron_variant intron_variant	MODIFIER	NA18962.hp2 NA18962.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0067 a0002c0002t0001g0067	1	118	0.0085	12	c.121 others(31): Show c.1218-3075_1218-3064dupGTTTGTTTGTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	15/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130256738	C C	CATATATA others(5): Show CATATATATATAT	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG01071.hp1 NA18945.hp2 HG00609.hp2 HG01071.hp1 NA18945.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0182 a0001c0001t0002g0211 a0001c0001t0002g0225 a0001c0001t0002g0182 a0001c0001t0002g0211 a0001c0001t0002g0225	3	246	0.0122	12	c.187 others(31): Show c.187-19745_187-19744insATATATATATAT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130268490	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	NA18975.hp2 NA19001.hp1 NA19003.hp2 others(1): Show NA18975.hp2 NA19001.hp1 NA19003.hp2 NA19005.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0003 a0001c0001t0001 a0002c0002t0003	a0001c0001t0001g0051 a0002c0002t0003g0247 a0002c0002t0003g0248 others(1): Show a0001c0001t0001g0051 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0252	4	44	0.0909	12	c.187 others(31): Show c.187-31508_187-31497dupGTGTGTGTGTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276687	A A	AACACACA others(5): Show AACACACACACAC	intron_variant intron_variant	MODIFIER	HG02895.hp1 HG02897.hp2 HG02895.hp1 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0255 a0001c0001t0001g0256	2	263	0.0076	12	c.187 others(31): Show c.187-39705_187-39694dupGTGTGTGTGTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276728	A A	ACACACTC others(5): Show ACACACTCTCTCT	intron_variant intron_variant	MODIFIER	HG01517.hp1 NA18975.hp2 NA18998.hp1 others(1): Show HG01517.hp1 NA18975.hp2 NA18998.hp1 NA19003.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0082 a0002c0002t0003g0247 a0002c0002t0003g0248 others(1): Show a0002c0002t0003g0082 a0002c0002t0003g0247 a0002c0002t0003g0248 a0002c0002t0003g0283	4	115	0.0348	12	c.187 others(31): Show c.187-39735_187-39734insAGAGAGAGTGTG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130276760	T T	TCTCTCTC others(5): Show TCTCTCTCTCTCC	intron_variant intron_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0022 a0002c0003t0001g0022	1	262	0.0038	12	c.187 others(31): Show c.187-39767_187-39766insGGAGAGAGAGAG	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130284842	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0001 a0001c0009t0001	a0001c0009t0001g0232 a0001c0009t0001g0232	1	100	0.0100	12	c.187 others(31): Show c.187-47860_187-47849dupGTGTGTGTGTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300113	T T	TACACACA others(5): Show TACACACACACAC	intron_variant intron_variant	MODIFIER	HG03540.hp1 NA18946.hp1 NA19090.hp1 HG03540.hp1 NA18946.hp1 NA19090.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0002 a0001c0005t0001 a0001c0001t0002 a0001c0005t0001	a0001c0001t0002g0177 a0001c0001t0002g0193 a0001c0005t0001g0166 a0001c0001t0002g0177 a0001c0001t0002g0193 a0001c0005t0001g0166	3	179	0.0168	12	c.186 others(31): Show c.186+57892_186+57903dupGTGTGTGTGTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300149	C C	CAGAGAGA others(5): Show CAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0167 a0001c0001t0001g0167	1	291	0.0034	12	c.186 others(31): Show c.186+57867_186+57868insCTCTCTCTCTCT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300153	C C	CACACAGA others(5): Show CACACAGAGAGAG	intron_variant intron_variant	MODIFIER	HG00597.hp1 HG02523.hp1 HG03654.hp2 others(5): Show HG00597.hp1 HG02523.hp1 HG03654.hp2 HG03704.hp2 HG04199.hp1 NA18969.hp2 NA19002.hp2 NA19074.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0003	a0002c0002t0003g0113 a0002c0002t0003g0117 a0002c0002t0003g0118 others(5): Show a0002c0002t0003g0113 a0002c0002t0003g0117 a0002c0002t0003g0118 a0002c0002t0003g0130 a0002c0002t0003g0135 a0002c0002t0003g0136 a0002c0002t0003g0258 a0002c0002t0003g0284	8	132	0.0606	12	c.186 others(31): Show c.186+57863_186+57864insCTCTCTCTGTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300153	C C	CACAGAGA others(5): Show CACAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01168.hp2 HG01169.hp2 NA18948.hp1 HG01168.hp2 HG01169.hp2 NA18948.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0003 a0002c0002t0004 a0002c0002t0003 a0002c0002t0004	a0002c0002t0003g0275 a0002c0002t0004g0230 a0002c0002t0004g0231 a0002c0002t0003g0275 a0002c0002t0004g0230 a0002c0002t0004g0231	3	127	0.0236	12	c.186 others(31): Show c.186+57863_186+57864insCTCTCTCTCTGT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130300153	C C	CAGAGAGA others(5): Show CAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02293.hp1 NA18973.hp1 others(2): Show HG01934.hp2 HG02293.hp1 NA18973.hp1 NA18985.hp2 NA19001.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0002c0002t0004 a0001c0001t0001 a0001c0001t0002 a0002c0002t0004	a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0102 others(2): Show a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0102 a0001c0001t0002g0044 a0002c0002t0004g0111	5	129	0.0388	12	c.186 others(31): Show c.186+57852_186+57863dupCTCTCTCTCTCT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130311761	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp2 HG00642.hp1 others(39): Show HG00609.hp1 HG00609.hp2 HG00642.hp1 HG01123.hp1 HG01255.hp1 HG01978.hp2 HG02080.hp2 HG02083.hp1 HG02109.hp1 HG02109.hp2 HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02572.hp1 HG02572.hp2 HG02622.hp2 HG02698.hp2 HG02717.hp1 HG02886.hp1 HG03139.hp1 HG03579.hp2 HG03669.hp1 HG03942.hp2 HG04199.hp2 HG04228.hp1 NA18906.hp1 NA18940.hp2 NA18945.hp1 NA18948.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp1 NA18966.hp1 NA19010.hp1 NA19030.hp1 NA19063.hp2 NA19065.hp1 NA19087.hp2 NA19090.hp1 NA19091.hp2 NA19240.hp2 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0009 a0002c0002 a0001c0001 a0001c0009 a0002c0002	a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 others(8): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0007 a0001c0001t0021 a0001c0001t0025 a0001c0001t0028 a0001c0009t0001 a0002c0002t0001 a0002c0002t0002 a0002c0002t0006 a0002c0002t0011	a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0035 others(39): Show a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0035 a0001c0001t0001g0228 a0001c0001t0001g0278 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0002g0176 a0001c0001t0002g0177 a0001c0001t0002g0178 a0001c0001t0002g0187 a0001c0001t0002g0211 a0001c0001t0007g0004 a0001c0001t0021g0263 a0001c0001t0025g0279 a0001c0001t0028g0088 a0001c0009t0001g0232 a0002c0002t0001g0060 a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0068 a0002c0002t0001g0069 a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 a0002c0002t0001g0073 a0002c0002t0001g0075 a0002c0002t0001g0077 a0002c0002t0001g0078 a0002c0002t0001g0079 a0002c0002t0001g0080 a0002c0002t0001g0081 a0002c0002t0001g0146 a0002c0002t0001g0147 a0002c0002t0001g0234 a0002c0002t0001g0269 a0002c0002t0002g0033 a0002c0002t0002g0265 a0002c0002t0002g0270 a0002c0002t0006g0306 a0002c0002t0006g0307 a0002c0002t0011g0235	42	120	0.3500	12	c.186 others(31): Show c.186+46244_186+46255dupTTTTTTTTTTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP1_chr8_130047104_130448674	130311775	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAC	intron_variant intron_variant	MODIFIER	HG02040.hp1 NA18950.hp2 NA19074.hp1 HG02040.hp1 NA18950.hp2 NA19074.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0001 a0002c0002t0001 a0002c0003t0001	a0002c0002t0001g0160 a0002c0003t0001g0030 a0002c0003t0001g0032 a0002c0002t0001g0160 a0002c0003t0001g0030 a0002c0003t0001g0032	3	296	0.0101	12	c.186 others(31): Show c.186+46241_186+46242insGTTTTTTTTTTT	ASAP1	ENSG00000153317.15	transcript	ENST00000518721.6	protein_coding	3/29			chr8	TogoVar
ASAP2_chr2_9201812_9410678	9202482	A A	AAAAAAAA others(5): Show AAAAAAAAAAAAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02738.hp2 HG02738.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0053 a0002c0001t0001g0053	1	176	0.0057	12	c.-46 others(23): Show c.-4623_-4622insAAAAAAAAAAAC	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding		4329		chr2	TogoVar
ASAP2_chr2_9201812_9410678	9254236	A A	AAAAAAAA others(5): Show AAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA20129.hp1 NA20129.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0210 a0001c0003t0001g0210	1	94	0.0106	12	c.127 others(31): Show c.127-25080_127-25079insAAAAAATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	1/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9286447	A A	AAAATATA others(5): Show AAAATATATATAT	intron_variant intron_variant	MODIFIER	NA18953.hp2 NA18953.hp2	a0002 a0002	a0002c0008 a0002c0008	a0002c0008t0001 a0002c0008t0001	a0002c0008t0001g0108 a0002c0008t0001g0108	1	65	0.0154	12	c.199 others(29): Show c.199+7059_199+7060insAATATATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	2/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9361974	C C	CGTGTGTG others(5): Show CGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG01106.hp2 HG01175.hp1 others(4): Show HG00280.hp1 HG01106.hp2 HG01175.hp1 HG01496.hp1 HG01934.hp1 NA19091.hp2 NA20905.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0002 a0001c0002t0001 a0001c0002t0002	a0001c0002t0001g0116 a0001c0002t0001g0126 a0001c0002t0001g0182 others(4): Show a0001c0002t0001g0116 a0001c0002t0001g0126 a0001c0002t0001g0182 a0001c0002t0002g0096 a0001c0002t0002g0129 a0001c0002t0002g0162 a0001c0002t0002g0187	7	67	0.1045	12	c.146 others(31): Show c.1461+3112_1461+3123dupGTGTGTGTGTGT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	15/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9387213	C C	CAAAAAAA others(5): Show CAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00738.hp1 HG01884.hp2 others(10): Show HG00639.hp1 HG00738.hp1 HG01884.hp2 HG02451.hp2 HG02486.hp1 HG02717.hp2 HG02976.hp2 HG03130.hp1 HG03130.hp2 HG03579.hp2 NA18522.hp1 NA18906.hp2 NA19240.hp2	a0001 a0001	a0001c0003 a0001c0004 a0001c0003 a0001c0004	a0001c0003t0004 a0001c0003t0007 a0001c0004t0005 a0001c0003t0004 a0001c0003t0007 a0001c0004t0005	a0001c0003t0004g0200 a0001c0003t0007g0170 a0001c0004t0005g0010 others(10): Show a0001c0003t0004g0200 a0001c0003t0007g0170 a0001c0004t0005g0010 a0001c0004t0005g0021 a0001c0004t0005g0034 a0001c0004t0005g0041 a0001c0004t0005g0138 a0001c0004t0005g0185 a0001c0004t0005g0192 a0001c0004t0005g0193 a0001c0004t0005g0195 a0001c0004t0005g0196 a0001c0004t0005g0201	13	124	0.1048	12	c.213 others(31): Show c.2131-1078_2131-1067dupAAAAAAAAAAAA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	21/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9397727	G G	GAGATATA others(5): Show GAGATATATATAT	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0028 a0001c0004t0005g0028	1	182	0.0055	12	c.268 others(31): Show c.2685-2295_2685-2294insGATATATATATA	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP2_chr2_9201812_9410678	9397750	A A	ATATATAT others(5): Show ATATATATATTTT	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0005 a0001c0004t0005	a0001c0004t0005g0176 a0001c0004t0005g0176	1	112	0.0089	12	c.268 others(31): Show c.2685-2272_2685-2271insATATATATTTTT	ASAP2	ENSG00000151693.11	transcript	ENST00000281419.8	protein_coding	24/27		INFO_REALIGN_3_PRIME	chr2	TogoVar
ASAP3_chr1_23423563_23489179	23467173	C C	CATTATTA others(5): Show CATTATTATTATT	intron_variant intron_variant	MODIFIER	HG03139.hp2 HG03139.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0176 a0001c0001t0001g0176	1	281	0.0036	12	c.130 others(31): Show c.130-10991_130-10980dupAATAATAATAAT	ASAP3	ENSG00000088280.21	transcript	ENST00000336689.8	protein_coding	1/24			chr1	TogoVar
ASB11_chrX_15276697_15320640	15305597	T T	TTAGATAG others(5): Show TTAGATAGATAGA	intron_variant intron_variant	MODIFIER	HG03704.hp2 HG03834.hp1 NA18946.hp1 HG03704.hp2 HG03834.hp1 NA18946.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0153 a0001c0001t0001g0218 a0001c0001t0001g0219 a0001c0001t0001g0153 a0001c0001t0001g0218 a0001c0001t0001g0219	3	104	0.0288	12	c.182 others(29): Show c.182-2802_182-2791dupTCTATCTATCTA	ASB11	ENSG00000165192.14	transcript	ENST00000480796.6	protein_coding	1/6			chrX	TogoVar
ASB13_chr10_5633867_5671595	5652023	A A	ACCACACA others(5): Show ACCACACACACAC	intron_variant intron_variant	MODIFIER	NA18944.hp2 NA18998.hp1 NA19070.hp1 others(1): Show NA18944.hp2 NA18998.hp1 NA19070.hp1 NA19070.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0005 a0001c0001t0001 a0001c0001t0005	a0001c0001t0001g0185 a0001c0001t0005g0005 a0001c0001t0005g0174 others(1): Show a0001c0001t0001g0185 a0001c0001t0005g0005 a0001c0001t0005g0174 a0001c0001t0005g0217	4	266	0.0150	12	c.232 others(27): Show c.232-661_232-660insGTGTGTGTGTGG	ASB13	ENSG00000196372.13	transcript	ENST00000357700.11	protein_coding	2/5			chr10	TogoVar
ASB14_chr3_57263342_57297685	57284088	C C	CTGTGTGT others(5): Show CTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG02129.hp1 HG02886.hp2 HG02129.hp1 HG02886.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0001 a0001c0001t0003	a0001c0001t0001g0059 a0001c0001t0003g0092 a0001c0001t0001g0059 a0001c0001t0003g0092	2	321	0.0062	12	c.470 others(27): Show c.470-650_470-649insCACACACACACA	ASB14	ENSG00000239388.10	transcript	ENST00000487349.6	protein_coding	5/10			chr3	TogoVar
ASB14_chr3_57263342_57297685	57284094	A A	ATGTGTGT others(5): Show ATGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG01069.hp2 HG01071.hp1 others(17): Show HG00423.hp1 HG01069.hp2 HG01071.hp1 HG01074.hp2 HG01167.hp2 HG01169.hp1 HG01891.hp2 HG02486.hp2 HG02735.hp1 HG02818.hp1 HG02895.hp2 HG02897.hp1 HG03041.hp1 HG03098.hp1 HG03139.hp1 HG03834.hp2 HG03942.hp1 NA18991.hp1 NA18992.hp1 NA20129.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0008 a0002c0002 a0001c0001 a0001c0008 a0002c0002	a0001c0001t0001 a0001c0001t0003 a0001c0008t0001 others(1): Show a0001c0001t0001 a0001c0001t0003 a0001c0008t0001 a0002c0002t0007	a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0037 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0037 a0001c0001t0001g0055 a0001c0001t0001g0066 a0001c0001t0001g0137 a0001c0001t0003g0022 a0001c0001t0003g0177 a0001c0001t0003g0201 a0001c0001t0003g0202 a0001c0001t0003g0208 a0001c0001t0003g0215 a0001c0008t0001g0151 a0002c0002t0007g0046 a0002c0002t0007g0196 a0002c0002t0007g0199	20	23	0.8696	12	c.470 others(27): Show c.470-667_470-656dupCACACACACACA	ASB14	ENSG00000239388.10	transcript	ENST00000487349.6	protein_coding	5/10			chr3	TogoVar
ASB15_chr7_123596821_123644481	123597918	G G	GTGTGTGT others(5): Show GTGTGTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02257.hp2 HG02109.hp2 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0002 a0001c0002t0001 a0001c0001t0002 a0001c0002t0001	a0001c0001t0002g0113 a0001c0002t0001g0102 a0001c0001t0002g0113 a0001c0002t0001g0102	2	378	0.0053	12	c.-42 others(23): Show c.-4241_-4240insTGTGTGTGTGTA	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding		3902		chr7	TogoVar
ASB15_chr7_123596821_123644481	123621481	G G	GTTCTTGA others(5): Show GTTCTTGAATCTA	intron_variant intron_variant	MODIFIER	HG00609.hp2 HG00609.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0012 a0001c0001t0012	a0001c0001t0012g0074 a0001c0001t0012g0074	1	378	0.0026	12	c.452 others(29): Show c.452-3086_452-3075dupTCTTGAATCTAT	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	7/11		INFO_REALIGN_3_PRIME	chr7	TogoVar
ASB15_chr7_123596821_123644481	123637878	T T	TAAAAAAA others(5): Show TAAAAAAAAAAAA	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA19030.hp2 NA19030.hp2	a0015 a0015	a0015c0015 a0015c0015	a0015c0015t0040 a0015c0015t0040	a0015c0015t0040g0135 a0015c0015t0040g0135	1	87	0.0115	12	c.90 others(21): Show c.908_*919dupAAAAAAAAAAAA	ASB15	ENSG00000146809.14	transcript	ENST00000451215.6	protein_coding	12/12	920	INFO_REALIGN_3_PRIME	chr7	TogoVar

Search by Variant

Search

Search Results