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
DMD_chrX_31114222_33216549	32483164	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02071.hp1 HG02071.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0100 a0001c0002t0001g0100	1	56	0.0179	44	c.280 others(63): Show c.2803+1754_2803+1755insGTATATATATATATATATATATATAT ATATATATATATATATAT	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	21/78			chrX	TogoVar
DMD_chrX_31114222_33216549	33008810	A A	ATGTGTAT others(37): Show ATGTGTATATATACGTATATATACGTATATATGTGTATATATACG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0008 a0008	a0008c0011 a0008c0011	a0008c0011t0001 a0008c0011t0001	a0008c0011t0001g0039 a0008c0011t0001g0039	1	83	0.0120	44	c.93+ others(61): Show c.93+11328_93+11329insCGTATATATACACATATATACGTATATA TACGTATATATACACA	DMD	ENSG00000198947.18	transcript	ENST00000357033.9	protein_coding	2/78			chrX	TogoVar
DMRTC1B_chrX_72771890_72853803	72778594	C C	CCTTAATT others(37): Show CCTTAATTAACTTTTTTTTATAATGATGATCATTTTACAGGAAAT	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0019 a0001c0001t0019	a0001c0001t0019g0025 a0001c0001t0019g0025	1	26	0.0385	44	c.-95 others(61): Show c.-95+1346_-95+1347insCTTAATTAACTTTTTTTTATAATGATGA TCATTTTACAGGAAAT	DMRTC1B	ENSG00000184911.15	transcript	ENST00000334036.10	protein_coding	1/6			chrX	TogoVar
DMXL1_chr5_119066087_119254127	119173776	G G	GTATATAT others(37): Show GTATATATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0006 a0006	a0006c0011 a0006c0011	a0006c0011t0001 a0006c0011t0001	a0006c0011t0001g0124 a0006c0011t0001g0124	1	63	0.0159	44	c.668 others(63): Show c.6682-1463_6682-1462insTATATATATATATATATATATATATA TATATATATATATATATA	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	25/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DMXL1_chr5_119066087_119254127	119202865	A A	ATATATAT others(37): Show ATATATATATATATATATATTTATATATATATATATATATATATT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20129.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0009 a0001c0004t0003g0009	1	235	0.0043	44	c.774 others(61): Show c.7746-437_7746-436insATTTATATATATATATATATATATATTT ATATATATATATATAT	DMXL1	ENSG00000172869.15	transcript	ENST00000539542.6	protein_coding	32/43		INFO_REALIGN_3_PRIME	chr5	TogoVar
DNAAF4_chr15_55425308_55513234	55447790	A A	AGGGGGAG others(37): Show AGGGGGAGAGGGGAGAGGGCAGAGGGGGAGAGGGGAGAGGGCAGA	intron_variant intron_variant	MODIFIER	NA18989.hp2 NA18989.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0175 a0001c0001t0001g0175	1	335	0.0030	44	c.783 others(61): Show c.783+2431_783+2432insTCTGCCCTCTCCCCTCTCCCCCTCTGCC CTCTCCCCTCTCCCCC	DNAAF4	ENSG00000256061.7	transcript	ENST00000321149.7	protein_coding	6/9			chr15	TogoVar
DNAAF6_chrX_107201611_107249247	107204845	T T	TTTAAATA others(37): Show TTTAAATAAATTTTAAATAAATTATTTAAATAAATTTTAAATAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18957.hp2 NA19002.hp1 NA18957.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0068 a0001c0001t0001g0071 a0001c0001t0001g0068 a0001c0001t0001g0071	2	280	0.0071	44	c.-18 others(55): Show c.-1849_-1848insTTAAATAAATTTTAAATAAATTATTTAAATAAAT TTTAAATAAA	DNAAF6	ENSG00000080572.14	transcript	ENST00000372453.8	protein_coding		1765		chrX	TogoVar
DNAH10_chr12_123757301_123940714	123786681	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTTTATGTATATATAAACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02818.hp1 HG03041.hp1 others(4): Show HG01243.hp1 HG02818.hp1 HG03041.hp1 HG03486.hp1 NA18522.hp2 NA19030.hp2 NA21309.hp2	a0011 a0027 a0032 others(3): Show a0011 a0027 a0032 a0050 a0060 a0073	a0011c0012 a0027c0022 a0032c0071 others(3): Show a0011c0012 a0027c0022 a0032c0071 a0050c0073 a0060c0035 a0073c0072	a0011c0012t0002 a0027c0022t0001 a0032c0071t0001 others(3): Show a0011c0012t0002 a0027c0022t0001 a0032c0071t0001 a0050c0073t0002 a0060c0035t0002 a0073c0072t0001	a0011c0012t0002g0030 a0027c0022t0001g0120 a0027c0022t0001g0121 others(4): Show a0011c0012t0002g0030 a0027c0022t0001g0120 a0027c0022t0001g0121 a0032c0071t0001g0129 a0050c0073t0002g0123 a0060c0035t0002g0148 a0073c0072t0001g0122	7	78	0.0897	44	c.142 others(61): Show c.1421+745_1421+746insTGTGTGTGTGTGTGTTTATGTATATATA AACACACACACACACA	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	9/78			chr12	TogoVar
DNAH10_chr12_123757301_123940714	123786681	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTTTATGTATATATAAACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA20300.hp2 NA18906.hp1 NA20300.hp2	a0001 a0069 a0001 a0069	a0001c0058 a0069c0060 a0001c0058 a0069c0060	a0001c0058t0001 a0069c0060t0001 a0001c0058t0001 a0069c0060t0001	a0001c0058t0001g0033 a0069c0060t0001g0044 a0001c0058t0001g0033 a0069c0060t0001g0044	2	73	0.0274	44	c.142 others(61): Show c.1421+745_1421+746insTGTGTGTGTGTGTTTATGTATATATAAA CACACACACACACACA	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	9/78			chr12	TogoVar
DNAH10_chr12_123757301_123940714	123786681	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTTTATGTATATATAAACACACACACACACACACA	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG01109.hp1	a0030 a0030	a0030c0064 a0030c0064	a0030c0064t0001 a0030c0064t0001	a0030c0064t0001g0109 a0030c0064t0001g0109	1	72	0.0139	44	c.142 others(61): Show c.1421+745_1421+746insTGTGTGTGTGTTTATGTATATATAAACA CACACACACACACACA	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	9/78			chr12	TogoVar
DNAH10_chr12_123757301_123940714	123911579	G G	GGGGGGAT others(37): Show GGGGGGATCTGTCCTGGGGGGGTCTGTCCTGGGGGCATCCGTCCT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02896.hp2 HG02897.hp2 others(3): Show HG00642.hp1 HG02896.hp2 HG02897.hp2 HG03471.hp2 HG03486.hp2 NA18522.hp2	a0007 a0013 a0024 others(1): Show a0007 a0013 a0024 a0027	a0007c0010 a0013c0079 a0024c0016 others(1): Show a0007c0010 a0013c0079 a0024c0016 a0027c0022	a0007c0010t0001 a0013c0079t0001 a0024c0016t0001 others(1): Show a0007c0010t0001 a0013c0079t0001 a0024c0016t0001 a0027c0022t0001	a0007c0010t0001g0125 a0007c0010t0001g0127 a0007c0010t0001g0128 others(3): Show a0007c0010t0001g0125 a0007c0010t0001g0127 a0007c0010t0001g0128 a0013c0079t0001g0080 a0024c0016t0001g0103 a0027c0022t0001g0120	6	162	0.0370	44	c.101 others(63): Show c.10134+912_10134+913insATCTGTCCTGGGGGGGTCTGTCCTGG GGGCATCCGTCCTGGGGG	DNAH10	ENSG00000197653.16	transcript	ENST00000673944.1	protein_coding	59/78		INFO_REALIGN_3_PRIME	chr12	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TCTTTCTT others(37): Show TCTTTCTTTCTTTTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01192.hp2 HG01192.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0004 a0002c0002t0004	a0002c0002t0004g0296 a0002c0002t0004g0296	1	47	0.0213	44	c.100 others(63): Show c.10026+466_10026+467insCTTTCTTTCTTTTTTCTTTCTTTCTT TCTTTCTTTCTTTCTTTC	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81			chr7	TogoVar
DNAH11_chr7_21538039_21906839	21789808	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG02897.hp1 HG02897.hp1	a0135 a0135	a0135c0221 a0135c0221	a0135c0221t0001 a0135c0221t0001	a0135c0221t0001g0233 a0135c0221t0001g0233	1	47	0.0213	44	c.100 others(63): Show c.10026+468_10026+511dupTTCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCT	DNAH11	ENSG00000105877.19	transcript	ENST00000409508.8	protein_coding	61/81		INFO_REALIGN_3_PRIME	chr7	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0152 a0002c0002t0001g0152	1	134	0.0075	44	c.730 others(63): Show c.7305+2049_7305+2050insTATATATATATATATATATATATATA TATATATACACACACACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18949.hp1 NA18949.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0136 a0002c0002t0001g0136	1	134	0.0075	44	c.730 others(63): Show c.7305+2049_7305+2050insTATATATATATATATATATATATATA TACACACACACACACACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02922.hp1 HG03453.hp2 others(1): Show HG01884.hp2 HG02922.hp1 HG03453.hp2 NA19060.hp2	a0001 a0008 a0011 a0001 a0008 a0011	a0001c0026 a0008c0017 a0011c0069 a0001c0026 a0008c0017 a0011c0069	a0001c0026t0001 a0008c0017t0001 a0011c0069t0001 a0001c0026t0001 a0008c0017t0001 a0011c0069t0001	a0001c0026t0001g0204 a0008c0017t0001g0080 a0008c0017t0001g0104 others(1): Show a0001c0026t0001g0204 a0008c0017t0001g0080 a0008c0017t0001g0104 a0011c0069t0001g0264	4	137	0.0292	44	c.730 others(63): Show c.7305+2049_7305+2050insTATATATATATATATATATATATATA CACACACACACACACACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57389822	G G	GTGTGTGT others(37): Show GTGTGTGTGTGTGTGTGTGTGTGTATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA19064.hp2 NA19064.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0148 a0002c0002t0001g0148	1	134	0.0075	44	c.730 others(63): Show c.7305+2049_7305+2050insTATATATATATATATATATATACACA CACACACACACACACACA	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	45/73			chr3	TogoVar
DNAH12_chr3_57288700_57549344	57499647	A A	AAAAAAAA others(37): Show AAAAAAAAAAAAAAAATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19064.hp1 NA19064.hp1	a0004 a0004	a0004c0004 a0004c0004	a0004c0004t0001 a0004c0004t0001	a0004c0004t0001g0068 a0004c0004t0001g0068	1	59	0.0169	44	c.133 others(63): Show c.1335+1673_1335+1674insATATATATATATATATATATATATAT ATATTTTTTTTTTTTTTT	DNAH12	ENSG00000174844.15	transcript	ENST00000495027.6	protein_coding	11/73			chr3	TogoVar
DNAH17_chr17_78418697_78582396	78558447	C C	CTGACATC others(37): Show CTGACATCACCCTCATGGGTGGATGACATCACCCTCATGGGTGGA	intron_variant intron_variant	MODIFIER	HG00280.hp1 HG00280.hp2 HG00323.hp2 others(30): Show HG00280.hp1 HG00280.hp2 HG00323.hp2 HG00621.hp1 HG00733.hp1 HG00738.hp2 HG00741.hp2 HG01123.hp1 HG01243.hp2 HG01346.hp2 HG01516.hp1 HG01517.hp2 HG01891.hp1 HG01993.hp1 HG01993.hp2 HG02004.hp2 HG02040.hp1 HG02055.hp2 HG02293.hp1 HG02300.hp1 HG02572.hp2 HG02896.hp2 HG02922.hp1 HG03209.hp1 HG03579.hp1 HG04184.hp2 HG04228.hp1 NA18906.hp1 NA18939.hp2 NA18960.hp2 NA18964.hp1 NA18971.hp2 NA20905.hp1	a0001 a0003 a0004 others(21): Show a0001 a0003 a0004 a0005 a0006 a0007 a0017 a0019 a0020 a0022 a0025 a0031 a0034 a0041 a0045 a0059 a0060 a0061 a0088 a0111 a0120 a0126 a0129 a0141	a0001c0063 a0001c0064 a0001c0131 others(30): Show a0001c0063 a0001c0064 a0001c0131 a0001c0138 a0001c0172 a0001c0208 a0003c0081 a0003c0101 a0003c0175 a0004c0145 a0004c0189 a0005c0226 a0006c0004 a0007c0165 a0017c0166 a0017c0167 a0019c0136 a0020c0062 a0022c0080 a0025c0048 a0031c0123 a0034c0184 a0041c0076 a0045c0201 a0059c0174 a0060c0055 a0061c0057 a0088c0210 a0111c0046 a0120c0047 a0126c0206 a0129c0164 a0141c0056	a0001c0063t0001 a0001c0064t0001 a0001c0131t0001 others(30): Show a0001c0063t0001 a0001c0064t0001 a0001c0131t0001 a0001c0138t0001 a0001c0172t0001 a0001c0208t0001 a0003c0081t0001 a0003c0101t0001 a0003c0175t0002 a0004c0145t0002 a0004c0189t0001 a0005c0226t0002 a0006c0004t0001 a0007c0165t0001 a0017c0166t0001 a0017c0167t0001 a0019c0136t0001 a0020c0062t0001 a0022c0080t0001 a0025c0048t0001 a0031c0123t0001 a0034c0184t0003 a0041c0076t0002 a0045c0201t0001 a0059c0174t0002 a0060c0055t0001 a0061c0057t0001 a0088c0210t0001 a0111c0046t0001 a0120c0047t0001 a0126c0206t0006 a0129c0164t0003 a0141c0056t0001	a0001c0063t0001g0155 a0001c0064t0001g0189 a0001c0131t0001g0044 others(30): Show a0001c0063t0001g0155 a0001c0064t0001g0189 a0001c0131t0001g0044 a0001c0138t0001g0226 a0001c0172t0001g0218 a0001c0208t0001g0067 a0003c0081t0001g0024 a0003c0101t0001g0114 a0003c0175t0002g0051 a0004c0145t0002g0068 a0004c0189t0001g0199 a0005c0226t0002g0079 a0006c0004t0001g0205 a0007c0165t0001g0202 a0017c0166t0001g0052 a0017c0167t0001g0094 a0019c0136t0001g0190 a0020c0062t0001g0192 a0022c0080t0001g0112 a0025c0048t0001g0170 a0031c0123t0001g0223 a0034c0184t0003g0252 a0041c0076t0002g0196 a0045c0201t0001g0140 a0059c0174t0002g0153 a0060c0055t0001g0007 a0061c0057t0001g0164 a0088c0210t0001g0118 a0111c0046t0001g0102 a0120c0047t0001g0091 a0126c0206t0006g0066 a0129c0164t0003g0247 a0141c0056t0001g0073	33	131	0.2519	44	c.203 others(61): Show c.2032-237_2032-194dupTCCACCCATGAGGGTGATGTCATCCACC CATGAGGGTGATGTCA	DNAH17	ENSG00000187775.17	transcript	ENST00000389840.7	protein_coding	13/80			chr17	TogoVar
DNAH2_chr17_7712744_7838742	7725440	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 HG00673.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0001 a0003c0004t0001	a0003c0004t0001g0148 a0003c0004t0001g0148	1	276	0.0036	44	c.229 others(61): Show c.229-1681_229-1680insATATATATATATATATATATATATATAT TTTTTTTTTTTTTTTT	DNAH2	ENSG00000183914.15	transcript	ENST00000572933.6	protein_coding	3/85		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAH3_chr16_20928111_21155846	21020348	G G	GTGTGTAT others(37): Show GTGTGTATATATATATATATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0230 a0001c0002t0001g0230	1	57	0.0175	44	c.563 others(61): Show c.5639-480_5639-479insTATATATATATATATATATATATATATA TATATATATATACACA	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	40/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21067772	G G	GGGGGGAG others(37): Show GGGGGGAGGGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0033 a0001c0033	a0001c0033t0001 a0001c0033t0001	a0001c0033t0001g0075 a0001c0033t0001g0075	1	170	0.0059	44	c.324 others(61): Show c.3244-354_3244-353insTCTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCCCTCCCTCCCCC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21067772	G G	GGGGGGAG others(37): Show GGGGGGAGGGAGGGAGGGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0001 a0002c0004t0001	a0002c0004t0001g0120 a0002c0004t0001g0120	1	170	0.0059	44	c.324 others(61): Show c.3244-354_3244-353insTCTCTCTCTCTCTCTCTCTCTCTCTCTC CCTCCCTCCCTCCCCC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAH3_chr16_20928111_21155846	21067772	G G	GGGGGGGG others(37): Show GGGGGGGGAGGGAGGGAGAGGGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	NA18945.hp2 NA18945.hp2	a0047 a0047	a0047c0085 a0047c0085	a0047c0085t0001 a0047c0085t0001	a0047c0085t0001g0211 a0047c0085t0001g0211	1	170	0.0059	44	c.324 others(61): Show c.3244-354_3244-353insTCTCTCTCTCTCTCTCTCTCTCTCCCTC TCCCTCCCTCCCCCCC	DNAH3	ENSG00000158486.15	transcript	ENST00000698260.1	protein_coding	23/61			chr16	TogoVar
DNAI2_chr17_74269234_74319884	74301918	G G	GGAAAGAA others(37): Show GGAAAGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	NA18985.hp2 NA18985.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0159 a0001c0001t0001g0159	1	381	0.0026	44	c.987 others(59): Show c.987+753_987+754insAGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAGGAAGGAAAGAA	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI2_chr17_74269234_74319884	74301970	G G	GGAAGGAA others(37): Show GGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG00621.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0046 a0001c0001t0001g0046	1	321	0.0031	44	c.987 others(59): Show c.987+814_987+857dupGGAAGGAAGGAAGGAAGGAAGGAAGGAAGG AAAGAAGGAAGGAA	DNAI2	ENSG00000171595.14	transcript	ENST00000311014.11	protein_coding	8/13		INFO_REALIGN_3_PRIME	chr17	TogoVar
DNAI7_chr12_25103289_25200160	25120312	A A	AAGAGAGA others(37): Show AAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	NA18968.hp2 NA18968.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0119 a0001c0001t0001g0119	1	333	0.0030	44	c.124 others(63): Show c.1240-1012_1240-1011insCTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTCTCTCTCTCT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	11/15			chr12	TogoVar
DNAI7_chr12_25103289_25200160	25120317	G G	GGAGAGAG others(37): Show GGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA	intron_variant intron_variant	MODIFIER	HG00323.hp1 HG00639.hp2 HG01243.hp2 others(6): Show HG00323.hp1 HG00639.hp2 HG01243.hp2 HG02630.hp2 HG02886.hp1 NA18984.hp2 NA19085.hp1 NA19085.hp2 NA20752.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0095 others(6): Show a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0115 a0001c0001t0001g0146 a0001c0001t0001g0164	9	55	0.1636	44	c.124 others(63): Show c.1240-1017_1240-1016insTCTCTCTCTCTCTCTCTCTCTCTCTC TCTCTCTCTCTCTCTCTC	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	11/15			chr12	TogoVar
DNAI7_chr12_25103289_25200160	25174626	G G	GATATATA others(37): Show GATATATATCATATATATGGAATATATATATCATATATATGGAAT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp1 HG03453.hp1 HG02615.hp2 HG02723.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0326 a0001c0001t0001g0330 a0001c0001t0001g0331 a0001c0001t0001g0326 a0001c0001t0001g0330 a0001c0001t0001g0331	3	333	0.0090	44	c.22- others(61): Show c.22-13430_22-13429insATTCCATATATATGATATATATATTCCA TATATATGATATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DNAI7_chr12_25103289_25200160	25174681	T T	TATATATG others(37): Show TATATATGGAATATATATATCATATATATATGGAATATAGATATC	intron_variant intron_variant	MODIFIER	HG02818.hp1 HG02895.hp2 HG03540.hp2 others(1): Show HG02818.hp1 HG02895.hp2 HG03540.hp2 NA19240.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0332 others(1): Show a0001c0001t0001g0327 a0001c0001t0001g0329 a0001c0001t0001g0332 a0001c0001t0001g0333	4	329	0.0122	44	c.22- others(61): Show c.22-13485_22-13484insGATATCTATATTCCATATATATATGATA TATATATTCCATATAT	DNAI7	ENSG00000118307.20	transcript	ENST00000395987.8	protein_coding	2/15			chr12	TogoVar
DNAJA1_chr9_33020273_33044907	33039536	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01361.hp1 HG01952.hp2 HG03041.hp2 others(1): Show HG01361.hp1 HG01952.hp2 HG03041.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0037 a0001c0001t0020 a0001c0001t0037	a0001c0001t0020g0003 a0001c0001t0020g0008 a0001c0001t0020g0032 others(1): Show a0001c0001t0020g0003 a0001c0001t0020g0008 a0001c0001t0020g0032 a0001c0001t0037g0119	4	326	0.0123	44	c.64 others(53): Show c.644_*645insTATATATATATATATATATATATATATATATATATA TATATATA	DNAJA1	ENSG00000086061.16	transcript	ENST00000330899.5	protein_coding	9/9	645	INFO_REALIGN_3_PRIME	chr9	TogoVar
DNAJB6_chr7_157332004_157422439	157357257	T T	TTCCTTTC others(37): Show TTCCTTTCTTTCCTTTCCTTCCTTTCCTTCCCTCCCTTCCCTTCC	intron_variant intron_variant	MODIFIER	NA19043.hp1 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0340 a0001c0001t0001g0340	1	339	0.0029	44	c.-26 others(61): Show c.-26-1290_-26-1289insTCCTTTCTTTCCTTTCCTTCCTTTCCTT CCCTCCCTTCCCTTCC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	1/9			chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157357261	T T	TTCCTTTC others(37): Show TTCCTTTCTTTCCTTTCCTTCCTTTCCTTCCCTCCCTTCCCTTCC	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA18960.hp1 HG00621.hp2 NA18960.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0370 a0001c0001t0002g0341 a0001c0001t0001g0370 a0001c0001t0002g0341	2	366	0.0055	44	c.-26 others(61): Show c.-26-1286_-26-1285insTCCTTTCTTTCCTTTCCTTCCTTTCCTT CCCTCCCTTCCCTTCC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	1/9			chr7	TogoVar
DNAJB6_chr7_157332004_157422439	157357265	T T	TTCCTTTC others(37): Show TTCCTTTCTTTCCTTTCCTTCCTTTCCTTCCCTCCCTTCCCTTCC	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00597.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0014 a0001c0001t0014	a0001c0001t0014g0344 a0001c0001t0014g0344	1	237	0.0042	44	c.-26 others(61): Show c.-26-1282_-26-1281insTCCTTTCTTTCCTTTCCTTCCTTTCCTT CCCTCCCTTCCCTTCC	DNAJB6	ENSG00000105993.15	transcript	ENST00000262177.9	protein_coding	1/9			chr7	TogoVar
DNAJC11_chr1_6629170_6706816	6706343	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATACACATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02523.hp2 HG02523.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0221 a0001c0001t0001g0221	1	258	0.0039	44	c.-45 others(55): Show c.-4544_-4543insGTATGTATGTGTATATATATATATATATATATAT ATATATATAT	DNAJC11	ENSG00000007923.17	transcript	ENST00000377577.10	protein_coding		4528		chr1	TogoVar
DNAJC11_chr1_6629170_6706816	6706343	T T	TATATATA others(37): Show TATATATATATATATATATATATATATATATATATATATACATAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0132 a0001c0001t0001g0132	1	258	0.0039	44	c.-45 others(55): Show c.-4544_-4543insGTATGTATATATATATATATATATATATATATAT ATATATATAT	DNAJC11	ENSG00000007923.17	transcript	ENST00000377577.10	protein_coding		4528		chr1	TogoVar
DNAJC3_chr13_95672139_95799988	95704851	G G	GTTTTTTT others(37): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18965.hp2 NA18965.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0181 a0001c0001t0005g0181	1	206	0.0049	44	c.83- others(59): Show c.83-4358_83-4357insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TTTTTTTTTTTTTT	DNAJC3	ENSG00000102580.15	transcript	ENST00000602402.6	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr13	TogoVar
DNAJC4_chr11_64225548_64239281	64237109	G G	GAGAGAGA others(37): Show GAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAGAGAGAGAGAGA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02257.hp2 NA18906.hp2 HG02257.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0007 a0001c0001t0001g0007	2	330	0.0061	44	c.29 others(55): Show c.2925_*2926insAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAGAGA GAGAGAGAGA	DNAJC4	ENSG00000110011.14	transcript	ENST00000628077.3	protein_coding		2829		chr11	TogoVar
DNAJC6_chr1_65304543_65420871	65417065	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00735.hp1 HG02056.hp2 HG03471.hp2 others(2): Show HG00735.hp1 HG02056.hp2 HG03471.hp2 HG03927.hp1 NA20300.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0002 others(1): Show a0001c0001 a0001c0003 a0002c0002 a0002c0013	a0001c0001t0001 a0001c0003t0003 a0002c0002t0001 others(1): Show a0001c0001t0001 a0001c0003t0003 a0002c0002t0001 a0002c0013t0030	a0001c0001t0001g0095 a0001c0003t0003g0114 a0002c0002t0001g0028 others(2): Show a0001c0001t0001g0095 a0001c0003t0003g0114 a0002c0002t0001g0028 a0002c0002t0001g0215 a0002c0013t0030g0042	5	146	0.0342	44	c.40 others(55): Show c.4040_*4041insATATATATATATATATATATATATATATATATAT ATATATATAT	DNAJC6	ENSG00000116675.16	transcript	ENST00000371069.5	protein_coding		1195		chr1	TogoVar
DNAL1_chr14_73639986_73708732	73648403	C C	CATATATA others(37): Show CATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02970.hp1 NA19064.hp1 HG02970.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0009 a0001c0001t0005 a0001c0001t0009	a0001c0001t0005g0096 a0001c0001t0009g0097 a0001c0001t0005g0096 a0001c0001t0009g0097	2	52	0.0385	44	c.3+3 others(57): Show c.3+3375_3+3376insATATATATATATATATATATATATATATATAT ATATATATATAT	DNAL1	ENSG00000119661.15	transcript	ENST00000553645.7	protein_coding	1/7		INFO_REALIGN_3_PRIME	chr14	TogoVar
DNM1_chr9_128198379_128260244	128246783	C C	CTCCTCTC others(37): Show CTCCTCTCCCTCCCCCCTCTCCCCTTCCTCCCTCTCCCTCCTCCT	intron_variant intron_variant	MODIFIER	HG02735.hp2 HG02735.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0173 a0001c0002t0001g0173	1	348	0.0029	44	c.178 others(61): Show c.1781+280_1781+281insTCCTCTCCCTCCCCCCTCTCCCCTTCCT CCCTCTCCCTCCTCCT	DNM1	ENSG00000106976.22	transcript	ENST00000372923.8	protein_coding	16/21			chr9	TogoVar
DNM3_chr1_171836498_172417717	172336489	A A	ATTATAAT others(37): Show ATTATAATTTATATATATAAATTTTATAATTTATATATATAAATT	intron_variant intron_variant	MODIFIER	HG06807.hp2 HG06807.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0024 a0001c0002t0024	a0001c0002t0024g0085 a0001c0002t0024g0085	1	134	0.0075	44	c.189 others(65): Show c.1893+13186_1893+13187insATAAATTTTATAATTTATATATAT AAATTTTATAATTTATATAT	DNM3	ENSG00000197959.15	transcript	ENST00000627582.3	protein_coding	17/20		INFO_REALIGN_3_PRIME	chr1	TogoVar
DOCK10_chr2_224760090_225047468	225035546	A A	ATATATAT others(37): Show ATATATATATATATATATATATATTATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0009 a0009	a0009c0027 a0009c0027	a0009c0027t0005 a0009c0027t0005	a0009c0027t0005g0009 a0009c0027t0005g0009	1	170	0.0059	44	c.123 others(61): Show c.123+6705_123+6706insATATATATATATATATATATAATATATA TATATATATATATATA	DOCK10	ENSG00000135905.21	transcript	ENST00000258390.12	protein_coding	1/55			chr2	TogoVar
DOCK11_chrX_118490815_118691147	118516004	A A	AATATATA others(37): Show AATATATATATATATATATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02965.hp1 HG02965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	16	0.0625	44	c.102 others(63): Show c.102+19946_102+19947insTATATATATATATATATATATATATA TATATATATATATATATA	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	1/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
DOCK11_chrX_118490815_118691147	118647975	T T	TATAATAT others(37): Show TATAATATATAATAATATATAATATATTATTATATATAATATATA	intron_variant intron_variant	MODIFIER	HG03927.hp1 HG03927.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0002 a0001c0003t0002	a0001c0003t0002g0054 a0001c0003t0002g0054	1	205	0.0049	44	c.439 others(61): Show c.4399-937_4399-936insTATAATATATAATAATATATAATAATAT ATAATATATTATTATA	DOCK11	ENSG00000147251.16	transcript	ENST00000276202.9	protein_coding	40/52		INFO_REALIGN_3_PRIME	chrX	TogoVar
DOCK1_chr10_126900428_127457516	127093198	T T	TTTTCTTT others(37): Show TTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02055.hp1 HG01109.hp2 HG02055.hp1	a0001 a0003 a0001 a0003	a0001c0034 a0003c0003 a0001c0034 a0003c0003	a0001c0034t0001 a0003c0003t0003 a0001c0034t0001 a0003c0003t0003	a0001c0034t0001g0015 a0003c0003t0003g0037 a0001c0034t0001g0015 a0003c0003t0003g0037	2	116	0.0172	44	c.244 others(65): Show c.2446-13010_2446-13009insCTTTCTTTCTTTCTTTCTTTCTTT CTTTCTTTCTTTCTTTCTTT	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	23/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK1_chr10_126900428_127457516	127362837	A A	ACACATGC others(37): Show ACACATGCACGTCCCCACACACACACATACACATACACATCCCCC	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03486.hp2 NA18906.hp2 HG03225.hp1 HG03486.hp2 NA18906.hp2	a0001 a0004 a0001 a0004	a0001c0001 a0001c0027 a0004c0020 a0001c0001 a0001c0027 a0004c0020	a0001c0001t0002 a0001c0027t0002 a0004c0020t0003 a0001c0001t0002 a0001c0027t0002 a0004c0020t0003	a0001c0001t0002g0065 a0001c0027t0002g0113 a0004c0020t0003g0033 a0001c0001t0002g0065 a0001c0027t0002g0113 a0004c0020t0003g0033	3	81	0.0370	44	c.343 others(61): Show c.3432+629_3432+630insTGCACGTCCCCACACACACACATACACA TACACATCCCCCCACA	DOCK1	ENSG00000150760.13	transcript	ENST00000623213.2	protein_coding	33/51		INFO_REALIGN_3_PRIME	chr10	TogoVar
DOCK3_chr3_50669927_51389198	50886208	A A	ATATATAT others(37): Show ATATATATATATATATATATATATATATATATATATATATATATG	intron_variant intron_variant	MODIFIER	HG01934.hp2 NA19005.hp1 NA19058.hp1 HG01934.hp2 NA19005.hp1 NA19058.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022 a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0022	3	187	0.0160	44	c.163 others(61): Show c.163-3817_163-3816insATATATATATATATATATATATATATAT ATATATATATATATGT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	3/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK3_chr3_50669927_51389198	51016654	T T	TATATATA others(37): Show TATATATATTATATGATATATATTTATATATCATATAATATATAA	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02486.hp2 HG02559.hp2 others(2): Show HG02258.hp2 HG02486.hp2 HG02559.hp2 HG02886.hp1 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0013 a0001c0001 a0001c0013	a0001c0001t0001 a0001c0013t0001 a0001c0001t0001 a0001c0013t0001	a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 others(2): Show a0001c0001t0001g0207 a0001c0001t0001g0209 a0001c0001t0001g0210 a0001c0001t0001g0211 a0001c0013t0001g0208	5	209	0.0239	44	c.316 others(63): Show c.316-47780_316-47737dupGATATATATTTATATATCATATAATA TATAAATATATATTATAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52		INFO_REALIGN_3_PRIME	chr3	TogoVar
DOCK3_chr3_50669927_51389198	51016677	T T	TTATATAT others(37): Show TTATATATCATATAATATATAAATATATATTATATGATATATATA	intron_variant intron_variant	MODIFIER	HG02717.hp2 NA19043.hp2 HG02717.hp2 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0191 a0001c0001t0004g0192 a0001c0001t0004g0191 a0001c0001t0004g0192	2	205	0.0098	44	c.316 others(63): Show c.316-47737_316-47736insGATATATATATATATATCATATAATA TATAAATATATATTATAT	DOCK3	ENSG00000088538.13	transcript	ENST00000266037.10	protein_coding	5/52		INFO_REALIGN_3_PRIME	chr3	TogoVar

Search by Variant

Search

Search Results