Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Enter haplotype IDs (e.g., a1c1t1g1, a1c1, a1) separated by commas <= a0001 (zero padding also accept)

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

Show

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
NUP62CL_chrX_107118427_107211433	107204721	T T	TTTAAATA others(13): Show TTTAAATAAATTTTAAATAAA	intron_variant intron_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0114 a0001c0001t0003g0114	1	280	0.0036	20	c.-92 others(37): Show c.-92+1551_-92+1552insTTTATTTAAAATTTATTTAA	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	1/8			chrX	TogoVar
NUP62CL_chrX_107118427_107211433	107204845	T T	TTTAAATA others(13): Show TTTAAATAAATTTTAAATAAA	intron_variant intron_variant	MODIFIER	HG01069.hp1 HG02698.hp1 HG01069.hp1 HG02698.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0256 a0002c0002t0001g0257	2	280	0.0071	20	c.-92 others(37): Show c.-92+1427_-92+1428insTTTATTTAAAATTTATTTAA	NUP62CL	ENSG00000198088.10	transcript	ENST00000372466.8	protein_coding	1/8			chrX	TogoVar
NUP93_chr16_56725129_56855286	56765973	T T	TTAAAAAT others(13): Show TTAAAAATGGTAACTTTGGAA	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00741.hp1 HG01106.hp1 others(8): Show HG00099.hp2 HG00741.hp1 HG01106.hp1 HG01258.hp2 HG02602.hp1 HG02698.hp1 HG03491.hp1 HG03669.hp2 HG03704.hp2 HG03927.hp1 HG06807.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0008 a0001c0004t0019 a0001c0004t0044 others(1): Show a0001c0004t0008 a0001c0004t0019 a0001c0004t0044 a0001c0004t0045	a0001c0004t0008g0172 a0001c0004t0008g0173 a0001c0004t0008g0174 others(8): Show a0001c0004t0008g0172 a0001c0004t0008g0173 a0001c0004t0008g0174 a0001c0004t0008g0175 a0001c0004t0008g0176 a0001c0004t0008g0177 a0001c0004t0008g0178 a0001c0004t0019g0180 a0001c0004t0019g0181 a0001c0004t0044g0179 a0001c0004t0045g0182	11	378	0.0291	20	c.297 others(37): Show c.297+7328_297+7347dupTAACTTTGGAATAAAAATGG	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	3/21		INFO_REALIGN_3_PRIME	chr16	TogoVar
NUP93_chr16_56725129_56855286	56827069	A A	AAAAAAAA others(13): Show AAAAAAAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	NA18961.hp1 NA19064.hp1 NA18961.hp1 NA19064.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0354 a0001c0001t0003g0373 a0001c0001t0003g0354 a0001c0001t0003g0373	2	378	0.0053	20	c.795 others(37): Show c.795-1908_795-1907insAAAAAAAAAAAAAAAAAAAT	NUP93	ENSG00000102900.13	transcript	ENST00000308159.10	protein_coding	8/21			chr16	TogoVar
NUP98_chr11_3670019_3802554	3688820	C C	CATATACA others(13): Show CATATACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0307 a0001c0001t0001g0307	1	342	0.0029	20	c.445 others(39): Show c.4454+2526_4454+2527insATATATATATATATGTATAT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	28/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3707738	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00423.hp1 HG00544.hp1 HG00621.hp2 others(37): Show HG00423.hp1 HG00544.hp1 HG00621.hp2 HG00733.hp2 HG01099.hp1 HG01167.hp2 HG01192.hp2 HG01952.hp1 HG01993.hp2 HG02015.hp2 HG02129.hp1 HG02129.hp2 HG02135.hp1 HG02165.hp1 HG02165.hp2 HG02818.hp2 HG02922.hp2 HG03017.hp1 HG03041.hp1 HG03490.hp1 HG03492.hp1 HG06807.hp2 NA18612.hp1 NA18955.hp1 NA18955.hp2 NA18957.hp1 NA18957.hp2 NA18960.hp2 NA18966.hp2 NA18971.hp1 NA18977.hp2 NA18980.hp1 NA18981.hp2 NA18984.hp2 NA19003.hp2 NA19007.hp2 NA19057.hp2 NA19060.hp1 NA19064.hp1 NA19083.hp1	a0001 a0008 a0010 a0001 a0008 a0010	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0008c0011 a0010c0014	a0001c0001t0001 a0001c0002t0001 a0001c0002t0007 others(4): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0007 a0001c0002t0010 a0001c0003t0002 a0008c0011t0001 a0010c0014t0001	a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0075 others(37): Show a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0075 a0001c0001t0001g0135 a0001c0001t0001g0137 a0001c0001t0001g0142 a0001c0001t0001g0149 a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0177 a0001c0001t0001g0221 a0001c0001t0001g0223 a0001c0001t0001g0243 a0001c0002t0001g0069 a0001c0002t0001g0080 a0001c0002t0001g0082 a0001c0002t0001g0083 a0001c0002t0001g0086 a0001c0002t0001g0087 a0001c0002t0001g0089 a0001c0002t0001g0093 a0001c0002t0001g0094 a0001c0002t0001g0096 a0001c0002t0001g0097 a0001c0002t0001g0106 a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0002t0001g0266 a0001c0002t0001g0270 a0001c0002t0001g0274 a0001c0002t0001g0276 a0001c0002t0001g0279 a0001c0002t0001g0322 a0001c0002t0001g0327 a0001c0002t0007g0132 a0001c0002t0010g0342 a0001c0003t0002g0312 a0008c0011t0001g0071 a0008c0011t0001g0072 a0010c0014t0001g0263	40	342	0.1170	20	c.274 others(39): Show c.2743-1112_2743-1111insTTTTTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	20/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3724780	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00323.hp2 HG00544.hp1 HG00558.hp2 others(24): Show HG00323.hp2 HG00544.hp1 HG00558.hp2 HG00733.hp2 HG02015.hp2 HG02165.hp1 HG02615.hp2 HG02922.hp2 HG03209.hp1 HG03239.hp2 HG03688.hp1 HG03831.hp2 HG04184.hp2 HG06807.hp2 NA18955.hp1 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18962.hp2 NA18983.hp2 NA18984.hp2 NA18986.hp1 NA18990.hp1 NA18995.hp1 NA19009.hp1 NA19030.hp1 NA19083.hp1	a0001 a0010 a0001 a0010	a0001c0001 a0001c0002 a0010c0014 a0001c0001 a0001c0002 a0010c0014	a0001c0001t0001 a0001c0002t0001 a0001c0002t0007 others(2): Show a0001c0001t0001 a0001c0002t0001 a0001c0002t0007 a0001c0002t0010 a0010c0014t0001	a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0287 others(24): Show a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0287 a0001c0002t0001g0069 a0001c0002t0001g0070 a0001c0002t0001g0087 a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0002t0001g0095 a0001c0002t0001g0096 a0001c0002t0001g0100 a0001c0002t0001g0104 a0001c0002t0001g0262 a0001c0002t0001g0264 a0001c0002t0001g0268 a0001c0002t0001g0276 a0001c0002t0001g0277 a0001c0002t0001g0280 a0001c0002t0001g0282 a0001c0002t0001g0285 a0001c0002t0001g0288 a0001c0002t0001g0289 a0001c0002t0007g0132 a0001c0002t0010g0342 a0010c0014t0001g0263	27	342	0.0790	20	c.184 others(37): Show c.1847+322_1847+323insTTTTTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	15/32			chr11	TogoVar
NUP98_chr11_3670019_3802554	3729715	C C	CAAAAAAA others(13): Show CAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG03654.hp1 HG02647.hp1 HG03654.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0002c0005 a0001c0001 a0002c0005	a0001c0001t0001 a0002c0005t0001 a0001c0001t0001 a0002c0005t0001	a0001c0001t0001g0050 a0002c0005t0001g0299 a0001c0001t0001g0050 a0002c0005t0001g0299	2	342	0.0059	20	c.173 others(39): Show c.1730+1656_1730+1675dupTTTTTTTTTTTTTTTTTTTT	NUP98	ENSG00000110713.18	transcript	ENST00000324932.12	protein_coding	14/32			chr11	TogoVar
NUPR1_chr16_28527708_28543974	28531064	A A	ATTACAGC others(13): Show ATTACAGCTGCCTGCCACCAT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19070.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0120 a0001c0001t0120	a0001c0001t0120g0161 a0001c0001t0120g0161	1	368	0.0027	20	c.66 others(31): Show c.6618_*6619insATGGTGGCAGGCAGCTGTAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding		1643		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535503	T T	TTTTCTTT others(13): Show TTTTCTTTCTTTCTTTCTTTC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02965.hp2 NA18955.hp1 HG02965.hp2 NA18955.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0166 a0001c0001t0190 a0001c0001t0166 a0001c0001t0190	a0001c0001t0166g0195 a0001c0001t0190g0214 a0001c0001t0166g0195 a0001c0001t0190g0214	2	368	0.0054	20	c.21 others(31): Show c.2160_*2179dupGAAAGAAAGAAAGAAAGAAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2515		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535548	T T	TTTCTTTC others(13): Show TTTCTTTCTTTCTTTCTTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02615.hp1 HG02723.hp1 NA18967.hp2 others(1): Show HG02615.hp1 HG02723.hp1 NA18967.hp2 NA18986.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0186 a0001c0001t0021 a0001c0001t0186	a0001c0001t0021g0022 a0001c0001t0186g0210 a0001c0001t0021g0022 a0001c0001t0186g0210	4	368	0.0109	20	c.21 others(31): Show c.2134_*2135insGGAAAGAAAGAAAGAAAGAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2470		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535552	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0196 a0001c0001t0196	a0001c0001t0196g0220 a0001c0001t0196g0220	1	368	0.0027	20	c.21 others(31): Show c.2130_*2131insGGAAGGAAGGAAGGAAGGAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2466		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535560	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02040.hp1 HG02040.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0195 a0001c0001t0195	a0001c0001t0195g0219 a0001c0001t0195g0219	1	368	0.0027	20	c.21 others(31): Show c.2122_*2123insGGAAGGAAGGAAGGAAGGAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2458		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535560	T T	TTTCTTTC others(13): Show TTTCTTTCCTTCCTTCCTTCC	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02074.hp2 HG02897.hp2 HG02074.hp2 HG02897.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0229 a0001c0001t0258 a0001c0001t0229 a0001c0001t0258	a0001c0001t0229g0243 a0001c0001t0258g0127 a0001c0001t0229g0243 a0001c0001t0258g0127	2	368	0.0054	20	c.21 others(31): Show c.2122_*2123insGGAAGGAAGGAAGGAAAGAA	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2458		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535571	C C	CCTTCCTT others(13): Show CCTTCCTTCCTTCCTTCCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18948.hp2 NA19079.hp2 NA19082.hp2 NA18948.hp2 NA19079.hp2 NA19082.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0175 a0001c0001t0039 a0001c0001t0175	a0001c0001t0039g0037 a0001c0001t0175g0203 a0001c0001t0039g0037 a0001c0001t0175g0203	3	368	0.0082	20	c.21 others(31): Show c.2111_*2112insAAAGGAAGGAAGGAAGGAAG	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2447		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535571	C C	CCTTCCTT others(13): Show CCTTCCTTCCTTCCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA18747.hp2 NA18947.hp2 NA18950.hp2 others(2): Show NA18747.hp2 NA18947.hp2 NA18950.hp2 NA19070.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0023 a0001c0001t0157 a0001c0001t0159 a0001c0001t0023 a0001c0001t0157 a0001c0001t0159	a0001c0001t0023g0023 a0001c0001t0157g0187 a0001c0001t0159g0189 a0001c0001t0023g0023 a0001c0001t0157g0187 a0001c0001t0159g0189	5	368	0.0136	20	c.21 others(31): Show c.2111_*2112insAAAGAAAGGAAGGAAGGAAG	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2447		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535571	C C	CCTTCCTT others(13): Show CCTTCCTTCCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02080.hp2 HG02896.hp2 HG02080.hp2 HG02896.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0139 a0001c0001t0140 a0001c0001t0139 a0001c0001t0140	a0001c0001t0139g0174 a0001c0001t0140g0175 a0001c0001t0139g0174 a0001c0001t0140g0175	2	368	0.0054	20	c.21 others(31): Show c.2111_*2112insAAAGAAAGAAAGGAAGGAAG	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2447		chr16	TogoVar
NUPR1_chr16_28527708_28543974	28535571	C C	CCTTCCTT others(13): Show CCTTCCTTTCTTTCTTTCTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0125 a0001c0001t0125	a0001c0001t0125g0166 a0001c0001t0125g0166	1	368	0.0027	20	c.21 others(31): Show c.2111_*2112insAAAGAAAGAAAGAAAGGAAG	NUPR1	ENSG00000176046.9	transcript	ENST00000324873.8	protein_coding	3/3	2447		chr16	TogoVar
NUPR2_chr7_56109681_56121417	56115399	A A	ATATATAT others(13): Show ATATATATATATATACATATG	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0087 a0001c0001t0001g0087	1	448	0.0022	20	c.7- others(33): Show c.7-503_*7-502insCATATGTATATATATATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115414	T T	TACACATA others(13): Show TACACATATGTATATATATAC	intron_variant intron_variant	MODIFIER	HG01255.hp1 HG06807.hp2 NA20129.hp1 HG01255.hp1 HG06807.hp2 NA20129.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0023 a0001c0001t0001g0023	3	448	0.0067	20	c.7- others(33): Show c.7-518_*7-517insGTATATATATACATATGTGT	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUPR2_chr7_56109681_56121417	56115625	T T	TTATATAT others(13): Show TTATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG01256.hp1 HG01261.hp1 others(11): Show HG00423.hp2 HG01256.hp1 HG01261.hp1 HG02071.hp1 HG02145.hp2 HG03139.hp2 HG03540.hp1 NA18942.hp1 NA18946.hp1 NA18947.hp1 NA18967.hp1 NA19056.hp1 NA19060.hp2 NA19063.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0006 a0001c0001t0001g0051 a0001c0001t0001g0006 a0001c0001t0001g0051	14	448	0.0313	20	c.6+ others(33): Show c.6+370_*6+389dupTATATATATATATATATATA	NUPR2	ENSG00000185290.4	transcript	ENST00000329309.4	protein_coding	1/1			chr7	TogoVar
NUSAP1_chr15_41327881_41386046	41336654	T T	TTTGTTTT others(13): Show TTTGTTTTTTTTTTTTGTTTG	intron_variant intron_variant	MODIFIER	HG00140.hp2 HG03942.hp1 HG00140.hp2 HG03942.hp1	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0002 a0002c0003t0002	a0002c0003t0002g0233 a0002c0003t0002g0234 a0002c0003t0002g0233 a0002c0003t0002g0234	2	292	0.0069	20	c.93+ others(35): Show c.93+3606_93+3607insGTTTTTTTTTTTTGTTTGTT	NUSAP1	ENSG00000137804.14	transcript	ENST00000559596.6	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr15	TogoVar
NUTM2G_chr9_96923843_96944416	96930872	G G	GTTTTTTT others(13): Show GTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0156 a0001c0001t0005g0156	1	374	0.0027	20	c.17- others(33): Show c.17-829_17-810dupTTTTTTTTTTTTTTTTTTTT	NUTM2G	ENSG00000188152.13	transcript	ENST00000372322.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr9	TogoVar
NVL_chr1_224222345_224335172	224274035	A A	AACACACA others(13): Show AACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0207 a0001c0001t0001g0207	1	284	0.0035	20	c.208 others(39): Show c.2082+1284_2082+1303dupGTGTGTGTGTGTGTGTGTGT	NVL	ENSG00000143748.18	transcript	ENST00000281701.11	protein_coding	17/22			chr1	TogoVar
NWD1_chr19_16714847_16822953	16736193	T T	TTTCCTTC others(13): Show TTTCCTTCTTTCCTTCTTTCC	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0034 a0034	a0034c0051 a0034c0051	a0034c0051t0002 a0034c0051t0002	a0034c0051t0002g0028 a0034c0051t0002g0028	1	300	0.0033	20	c.82- others(33): Show c.82-434_82-433insTTTCCTTCTTTCCTTCCTTC	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD1_chr19_16714847_16822953	16736209	T T	TTTCCTTC others(13): Show TTTCCTTCCTTCCTTCCTTCC	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02109.hp1 HG03225.hp2 others(1): Show HG01109.hp2 HG02109.hp1 HG03225.hp2 NA19240.hp1	a0006 a0011 a0006 a0011	a0006c0014 a0011c0011 a0006c0014 a0011c0011	a0006c0014t0002 a0006c0014t0009 a0011c0011t0011 a0006c0014t0002 a0006c0014t0009 a0011c0011t0011	a0006c0014t0002g0015 a0006c0014t0009g0014 a0006c0014t0009g0016 others(1): Show a0006c0014t0002g0015 a0006c0014t0009g0014 a0006c0014t0009g0016 a0011c0011t0011g0017	4	300	0.0133	20	c.82- others(33): Show c.82-408_82-407insTCCTTCCTTCCTTCCTTCCT	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	3/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD1_chr19_16714847_16822953	16737964	C C	CGAAAAGA others(13): Show CGAAAAGAAAAGAAAAGAAAA	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02723.hp2 HG02886.hp1 others(3): Show HG02615.hp2 HG02723.hp2 HG02886.hp1 HG02922.hp1 HG06807.hp1 NA19043.hp2	a0004 a0017 a0042 others(2): Show a0004 a0017 a0042 a0043 a0046	a0004c0005 a0004c0060 a0017c0021 others(3): Show a0004c0005 a0004c0060 a0017c0021 a0042c0066 a0043c0064 a0046c0062	a0004c0005t0029 a0004c0060t0002 a0017c0021t0002 others(3): Show a0004c0005t0029 a0004c0060t0002 a0017c0021t0002 a0042c0066t0008 a0043c0064t0002 a0046c0062t0030	a0004c0005t0029g0265 a0004c0060t0002g0125 a0017c0021t0002g0051 others(3): Show a0004c0005t0029g0265 a0004c0060t0002g0125 a0017c0021t0002g0051 a0042c0066t0008g0264 a0043c0064t0002g0300 a0046c0062t0030g0250	6	300	0.0200	20	c.198 others(37): Show c.198+1244_198+1263dupAGAAAAGAAAAGAAAAGAAA	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	4/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD1_chr19_16714847_16822953	16755687	C C	CTTATTTA others(13): Show CTTATTTATTTATTTATTTAT	intron_variant intron_variant	MODIFIER	HG01074.hp2 HG01074.hp2	a0002 a0002	a0002c0001 a0002c0001	a0002c0001t0001 a0002c0001t0001	a0002c0001t0001g0159 a0002c0001t0001g0159	1	300	0.0033	20	c.177 others(39): Show c.1770-3526_1770-3507dupTTTATTTATTTATTTATTTA	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	6/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD1_chr19_16714847_16822953	16760229	C C	CATTTTAT others(13): Show CATTTTATTTTATTTTATTTT	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01433.hp2 HG01496.hp1 others(13): Show HG01358.hp1 HG01433.hp2 HG01496.hp1 HG01891.hp2 HG02083.hp1 HG02129.hp1 HG02622.hp2 HG02895.hp1 HG02897.hp1 HG06807.hp1 NA18747.hp1 NA18960.hp2 NA18966.hp1 NA18968.hp1 NA19070.hp2 NA21309.hp1	a0001 a0002 a0003 others(7): Show a0001 a0002 a0003 a0004 a0009 a0019 a0020 a0022 a0034 a0043	a0001c0002 a0002c0001 a0003c0003 others(7): Show a0001c0002 a0002c0001 a0003c0003 a0004c0005 a0009c0029 a0019c0024 a0020c0027 a0022c0042 a0034c0051 a0043c0064	a0001c0002t0002 a0001c0002t0005 a0002c0001t0005 others(10): Show a0001c0002t0002 a0001c0002t0005 a0002c0001t0005 a0002c0001t0014 a0003c0003t0004 a0003c0003t0024 a0004c0005t0006 a0009c0029t0002 a0019c0024t0001 a0020c0027t0007 a0022c0042t0001 a0034c0051t0002 a0043c0064t0002	a0001c0002t0002g0007 a0001c0002t0005g0130 a0002c0001t0005g0184 others(13): Show a0001c0002t0002g0007 a0001c0002t0005g0130 a0002c0001t0005g0184 a0002c0001t0005g0241 a0002c0001t0005g0244 a0002c0001t0014g0238 a0003c0003t0004g0073 a0003c0003t0024g0087 a0004c0005t0006g0228 a0004c0005t0006g0230 a0009c0029t0002g0298 a0019c0024t0001g0259 a0020c0027t0007g0080 a0022c0042t0001g0152 a0034c0051t0002g0028 a0043c0064t0002g0300	16	300	0.0533	20	c.197 others(37): Show c.1973+829_1973+848dupTTTATTTTATTTTATTTTAT	NWD1	ENSG00000188039.17	transcript	ENST00000524140.7	protein_coding	7/18		INFO_REALIGN_3_PRIME	chr19	TogoVar
NWD2_chr4_37239743_37454463	37348675	T T	TATATATA others(13): Show TATATATACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0202 a0001c0004t0001g0202	1	296	0.0034	20	c.241 others(37): Show c.241-7690_241-7689insTATATACACACACACACACA	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37348675	T T	TATATATA others(13): Show TATATATATACACACACACAC	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0006 a0002c0003t0006	a0002c0003t0006g0057 a0002c0003t0006g0057	1	296	0.0034	20	c.241 others(37): Show c.241-7690_241-7689insTATATATACACACACACACA	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37348675	T T	TATATATA others(13): Show TATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02056.hp1 HG04184.hp2 HG04199.hp2 HG02056.hp1 HG04184.hp2 HG04199.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0006 a0001c0001 a0002c0006	a0001c0001t0001 a0001c0001t0002 a0002c0006t0010 a0001c0001t0001 a0001c0001t0002 a0002c0006t0010	a0001c0001t0001g0168 a0001c0001t0002g0150 a0002c0006t0010g0293 a0001c0001t0001g0168 a0001c0001t0002g0150 a0002c0006t0010g0293	3	296	0.0101	20	c.241 others(37): Show c.241-7690_241-7689insTATATATATATATATACACA	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	2/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NWD2_chr4_37239743_37454463	37364691	T T	TACACACA others(13): Show TACACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03139.hp1 HG02922.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0021 a0001c0001 a0001c0021	a0001c0001t0002 a0001c0021t0001 a0001c0001t0002 a0001c0021t0001	a0001c0001t0002g0034 a0001c0021t0001g0036 a0001c0001t0002g0034 a0001c0021t0001g0036	2	296	0.0068	20	c.357 others(37): Show c.357+8224_357+8243dupACACACACACACACACACAC	NWD2	ENSG00000174145.8	transcript	ENST00000309447.6	protein_coding	3/6		INFO_REALIGN_3_PRIME	chr4	TogoVar
NXF2B_chrX_102355395_102445008	102435129	A A	AAAAACAA others(13): Show AAAAACAAAACAAAACAAAAC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0028	1	54	0.0185	20	c.-54 others(37): Show c.-54+3423_-54+3424insGTTTTGTTTTGTTTTGTTTT	NXF2B	ENSG00000269437.8	transcript	ENST00000602195.6	protein_coding	2/22			chrX	TogoVar
NXNL1_chr19_17450425_17465926	17453086	A A	AATATATA others(13): Show AATATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0033 a0003c0003t0003g0033	1	408	0.0025	20	c.25 others(31): Show c.2560_*2561insATATATATATATATATATAT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2338		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453089	T T	TAATATAT others(13): Show TAATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00639.hp1 HG02486.hp2 HG02622.hp2 others(3): Show HG00639.hp1 HG02486.hp2 HG02622.hp2 HG03041.hp2 NA18965.hp1 NA19066.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0056 others(1): Show a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0056 a0001c0001t0001g0072	6	408	0.0147	20	c.25 others(31): Show c.2557_*2558insTATATATATATATATATATT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2335		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453089	T T	TTATATAT others(13): Show TTATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02280.hp1 HG02280.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0112 a0003c0003t0003g0112	1	408	0.0025	20	c.25 others(31): Show c.2557_*2558insTATATATATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2335		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(13): Show ATATATATATATATATATATT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp1 HG02630.hp1	a0003 a0003	a0003c0003 a0003c0003	a0003c0003t0003 a0003c0003t0003	a0003c0003t0003g0008 a0003c0003t0003g0008	1	408	0.0025	20	c.25 others(31): Show c.2531_*2532insAATATATATATATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17453115	A A	ATATATAT others(13): Show ATATATATATTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA18980.hp2 NA18980.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	408	0.0025	20	c.25 others(31): Show c.2531_*2532insAAAAAAAAAAAATATATATA	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding		2309		chr19	TogoVar
NXNL1_chr19_17450425_17465926	17456307	C C	CAAATAAA others(13): Show CAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp2 HG02572.hp1 others(1): Show HG01192.hp1 HG01192.hp2 HG02572.hp1 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0017 a0001c0001t0001g0017	4	408	0.0098	20	c.327 others(35): Show c.327-368_327-349dupATTTATTTATTTATTTATTT	NXNL1	ENSG00000171773.3	transcript	ENST00000301944.3	protein_coding	1/1			chr19	TogoVar
NXN_chr17_794310_984776	839797	T T	TAAAAAAA others(13): Show TAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG00621.hp1 HG01891.hp1 NA18955.hp2 HG00621.hp1 HG01891.hp1 NA18955.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0033 a0001c0001t0004 a0001c0001t0033	a0001c0001t0004g0129 a0001c0001t0004g0155 a0001c0001t0033g0241 a0001c0001t0004g0129 a0001c0001t0004g0155 a0001c0001t0033g0241	3	242	0.0124	20	c.361 others(39): Show c.361-13720_361-13719insTTTTTTTTTTTTTTTTTTTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	843006	G G	GAGAAAGA others(13): Show GAGAAAGAGAGAAAGAGAGAA	intron_variant intron_variant	MODIFIER	NA18943.hp2 NA18943.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0102 a0001c0001t0002g0102	1	242	0.0041	20	c.361 others(39): Show c.361-16929_361-16928insTTCTCTCTTTCTCTCTTTCT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	876249	G G	GAAGAAAA others(13): Show GAAGAAAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG01257.hp2 HG01258.hp2 HG02055.hp2 others(5): Show HG01257.hp2 HG01258.hp2 HG02055.hp2 HG02257.hp1 HG02965.hp2 HG03041.hp1 HG03130.hp1 HG03710.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0012 a0001c0001 a0003c0012	a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0006 a0003c0012t0001	a0001c0001t0001g0047 a0001c0001t0001g0076 a0001c0001t0001g0126 others(5): Show a0001c0001t0001g0047 a0001c0001t0001g0076 a0001c0001t0001g0126 a0001c0001t0001g0177 a0001c0001t0002g0178 a0001c0001t0006g0099 a0001c0001t0006g0100 a0003c0012t0001g0236	8	242	0.0331	20	c.361 others(39): Show c.361-50191_361-50172dupTTCTTTTCTTTTCTTTTCTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	876249	G G	GAAGAGAA others(13): Show GAAGAGAAGAAAAGAAAAGAA	intron_variant intron_variant	MODIFIER	HG01081.hp2 HG01081.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0205 a0001c0001t0003g0205	1	242	0.0041	20	c.361 others(39): Show c.361-50172_361-50171insTTCTTTTCTTTTCTTCTCTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	884223	A A	AAAATAAA others(13): Show AAAATAAATAAATAAATAAAT	intron_variant intron_variant	MODIFIER	HG00642.hp1 HG02145.hp1 HG02622.hp2 others(5): Show HG00642.hp1 HG02145.hp1 HG02622.hp2 HG02970.hp2 HG03486.hp2 HG03516.hp2 NA18952.hp2 NA19007.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0006 a0001c0001t0023 a0001c0001t0027 a0001c0002t0004	a0001c0001t0001g0014 a0001c0001t0001g0201 a0001c0001t0003g0065 others(5): Show a0001c0001t0001g0014 a0001c0001t0001g0201 a0001c0001t0003g0065 a0001c0001t0005g0209 a0001c0001t0006g0144 a0001c0001t0023g0052 a0001c0001t0027g0010 a0001c0002t0004g0043	8	242	0.0331	20	c.361 others(39): Show c.361-58165_361-58146dupATTTATTTATTTATTTATTT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	905270	T T	TATATATA others(13): Show TATATATATATATATAGATAG	intron_variant intron_variant	MODIFIER	NA18939.hp2 NA18939.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0180 a0001c0001t0003g0180	1	242	0.0041	20	c.360 others(39): Show c.360+74048_360+74049insCTATCTATATATATATATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	905270	T T	TATATATA others(13): Show TATATATATATATATATATAG	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG04199.hp2 HG04204.hp2 others(1): Show HG00738.hp1 HG04199.hp2 HG04204.hp2 NA18972.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0017	a0001c0001t0001g0086 a0001c0001t0002g0067 a0001c0001t0003g0140 others(1): Show a0001c0001t0001g0086 a0001c0001t0002g0067 a0001c0001t0003g0140 a0001c0001t0017g0002	4	242	0.0165	20	c.360 others(39): Show c.360+74048_360+74049insCTATATATATATATATATAT	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948819	T T	TCCCCGCG others(13): Show TCCCCGCGGCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	NA19010.hp1 NA19010.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0218 a0001c0001t0001g0218	1	242	0.0041	20	c.360 others(39): Show c.360+30480_360+30499dupGAGAGGAGGAGGCCGCGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948876	T T	TCCCCCCG others(13): Show TCCCCCCGGCCTCCTCCTCTC	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG00738.hp2 HG02109.hp1 HG00733.hp1 HG00738.hp2 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0001 a0001c0001t0002 a0001c0001t0003	a0001c0001t0001g0034 a0001c0001t0002g0031 a0001c0001t0003g0033 a0001c0001t0001g0034 a0001c0001t0002g0031 a0001c0001t0003g0033	3	242	0.0124	20	c.360 others(39): Show c.360+30442_360+30443insGAGAGGAGGAGGCCGGGGGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar
NXN_chr17_794310_984776	948880	C C	CCCTGCCT others(13): Show CCCTGCCTCCTCCTCTCCCCG	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG06807.hp1 HG01167.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0029 a0001c0001t0001g0226 a0001c0001t0001g0029 a0001c0001t0001g0226	2	242	0.0083	20	c.360 others(39): Show c.360+30438_360+30439insCGGGGAGAGGAGGAGGCAGG	NXN	ENSG00000167693.17	transcript	ENST00000336868.8	protein_coding	1/7			chr17	TogoVar

Search by Variant

Search

Search Results