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
ULK4_chr3_41241599_41967103	41484458	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG01071.hp1 HG01071.hp2 others(21): Show HG00735.hp1 HG01071.hp1 HG01071.hp2 HG01081.hp2 HG01106.hp1 HG01109.hp1 HG01169.hp1 HG01243.hp1 HG01433.hp1 HG01891.hp2 HG02145.hp2 HG02165.hp1 HG02572.hp2 HG02735.hp1 HG02818.hp1 HG02970.hp2 HG02976.hp1 HG02976.hp2 HG03209.hp2 HG03486.hp2 HG03540.hp2 HG06807.hp1 NA18522.hp1 NA18522.hp2	a0001 a0002 a0004 others(8): Show a0001 a0002 a0004 a0005 a0006 a0007 a0008 a0013 a0014 a0018 a0020	a0001c0001 a0002c0004 a0002c0009 others(9): Show a0001c0001 a0002c0004 a0002c0009 a0004c0002 a0005c0006 a0006c0007 a0007c0005 a0008c0010 a0013c0024 a0014c0022 a0018c0021 a0020c0018	a0001c0001t0001 a0001c0001t0003 a0002c0004t0002 others(10): Show a0001c0001t0001 a0001c0001t0003 a0002c0004t0002 a0002c0009t0002 a0004c0002t0005 a0005c0006t0004 a0006c0007t0001 a0007c0005t0001 a0008c0010t0002 a0013c0024t0001 a0014c0022t0001 a0018c0021t0001 a0020c0018t0001	a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 others(21): Show a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0044 a0001c0001t0001g0053 a0001c0001t0001g0055 a0001c0001t0003g0069 a0001c0001t0003g0070 a0002c0004t0002g0014 a0002c0004t0002g0015 a0002c0009t0002g0012 a0004c0002t0005g0067 a0005c0006t0004g0001 a0005c0006t0004g0002 a0005c0006t0004g0003 a0006c0007t0001g0023 a0007c0005t0001g0064 a0007c0005t0001g0066 a0008c0010t0002g0056 a0013c0024t0001g0027 a0014c0022t0001g0029 a0018c0021t0001g0045 a0020c0018t0001g0050	24	63	0.3810	13	c.322 others(34): Show c.3227-21206_3227-21205insAAAAAAAAAAAAA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41506767	A A	AAAAAAAA others(6): Show AAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0020 a0020	a0020c0018 a0020c0018	a0020c0018t0001 a0020c0018t0001	a0020c0018t0001g0050 a0020c0018t0001g0050	1	21	0.0476	13	c.322 others(34): Show c.3227-43515_3227-43514insATATATTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	32/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41657818	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01934.hp2 HG02895.hp2 HG02896.hp2 others(2): Show HG01934.hp2 HG02895.hp2 HG02896.hp2 HG03540.hp1 HG04115.hp1	a0001 a0009 a0010 a0001 a0009 a0010	a0001c0001 a0009c0008 a0010c0011 a0001c0001 a0009c0008 a0010c0011	a0001c0001t0001 a0009c0008t0002 a0010c0011t0002 a0001c0001t0001 a0009c0008t0002 a0010c0011t0002	a0001c0001t0001g0040 a0001c0001t0001g0046 a0009c0008t0002g0021 others(2): Show a0001c0001t0001g0040 a0001c0001t0001g0046 a0009c0008t0002g0021 a0010c0011t0002g0010 a0010c0011t0002g0011	5	12	0.4167	13	c.307 others(32): Show c.3071+5776_3071+5788dupTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	30/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41706386	T T	TTATATAT others(6): Show TTATATATTATATA	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02970.hp1 HG06807.hp2 HG02622.hp1 HG02970.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0049 a0001c0001t0001g0051 a0001c0001t0001g0052	3	70	0.0429	13	c.263 others(32): Show c.2635-1082_2635-1081insTATATAATATATA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	25/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41714852	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG02145.hp1 HG02258.hp2 others(6): Show HG01109.hp2 HG02145.hp1 HG02258.hp2 HG02572.hp2 HG02818.hp1 HG03453.hp1 HG03453.hp2 HG03540.hp1 HG06807.hp1	a0002 a0008 a0009 a0002 a0008 a0009	a0002c0004 a0002c0009 a0008c0010 others(1): Show a0002c0004 a0002c0009 a0008c0010 a0009c0008	a0002c0004t0002 a0002c0009t0002 a0008c0010t0002 others(1): Show a0002c0004t0002 a0002c0009t0002 a0008c0010t0002 a0009c0008t0002	a0002c0004t0002g0014 a0002c0004t0002g0015 a0002c0004t0002g0017 others(6): Show a0002c0004t0002g0014 a0002c0004t0002g0015 a0002c0004t0002g0017 a0002c0004t0002g0019 a0002c0009t0002g0012 a0002c0009t0002g0018 a0008c0010t0002g0004 a0009c0008t0002g0020 a0009c0008t0002g0021	9	45	0.2000	13	c.263 others(30): Show c.2634+384_2634+385insTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	25/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41794660	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01934.hp2 HG01891.hp1 HG01934.hp2	a0001 a0016 a0001 a0016	a0001c0001 a0016c0015 a0001c0001 a0016c0015	a0001c0001t0001 a0016c0015t0001 a0001c0001t0001 a0016c0015t0001	a0001c0001t0001g0040 a0016c0015t0001g0005 a0001c0001t0001g0040 a0016c0015t0001g0005	2	24	0.0833	13	c.201 others(32): Show c.2011-4830_2011-4818dupTTTTTTTTTTTTT	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	20/36			chr3	TogoVar
ULK4_chr3_41241599_41967103	41831531	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0016 a0016	a0016c0015 a0016c0015	a0016c0015t0001 a0016c0015t0001	a0016c0015t0001g0005 a0016c0015t0001g0005	1	54	0.0185	13	c.176 others(32): Show c.1764+4332_1764+4333insAAAAATATATATA	ULK4	ENSG00000168038.11	transcript	ENST00000301831.9	protein_coding	18/36			chr3	TogoVar
UMODL1_chr21_42066317_42147996	42095089	G G	GGTTTTTT others(6): Show GGTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00544.hp2 HG00558.hp1 HG00609.hp1 others(7): Show HG00544.hp2 HG00558.hp1 HG00609.hp1 HG02717.hp1 HG02738.hp1 HG02976.hp1 HG03492.hp2 NA18947.hp2 NA18986.hp1 NA19010.hp2	a0003 a0008 a0009 others(2): Show a0003 a0008 a0009 a0038 a0085	a0003c0004 a0003c0102 a0008c0048 others(3): Show a0003c0004 a0003c0102 a0008c0048 a0009c0018 a0038c0023 a0085c0100	a0003c0004t0001 a0003c0004t0006 a0003c0102t0001 others(5): Show a0003c0004t0001 a0003c0004t0006 a0003c0102t0001 a0008c0048t0001 a0009c0018t0001 a0038c0023t0001 a0038c0023t0007 a0085c0100t0001	a0003c0004t0001g0143 a0003c0004t0001g0314 a0003c0004t0006g0315 others(7): Show a0003c0004t0001g0143 a0003c0004t0001g0314 a0003c0004t0006g0315 a0003c0102t0001g0307 a0008c0048t0001g0288 a0009c0018t0001g0125 a0038c0023t0001g0233 a0038c0023t0007g0257 a0038c0023t0007g0259 a0085c0100t0001g0149	10	72	0.1389	13	c.932 others(30): Show c.932-3837_932-3836insGTTTTTTTTTTTT	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	6/22			chr21	TogoVar
UMODL1_chr21_42066317_42147996	42095089	G G	GTTTTTTT others(6): Show GTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG01346.hp1 HG01358.hp1 others(8): Show HG00639.hp1 HG01346.hp1 HG01358.hp1 HG01978.hp1 HG02273.hp2 NA18979.hp2 NA18985.hp1 NA19078.hp1 NA20300.hp2 NA20752.hp2 NA21309.hp1	a0001 a0002 a0011 others(5): Show a0001 a0002 a0011 a0012 a0026 a0033 a0041 a0122	a0001c0001 a0002c0121 a0011c0010 others(6): Show a0001c0001 a0002c0121 a0011c0010 a0012c0036 a0026c0025 a0033c0061 a0033c0116 a0041c0136 a0122c0129	a0001c0001t0001 a0001c0001t0004 a0002c0121t0001 others(7): Show a0001c0001t0001 a0001c0001t0004 a0002c0121t0001 a0011c0010t0001 a0012c0036t0004 a0026c0025t0001 a0033c0061t0002 a0033c0116t0002 a0041c0136t0001 a0122c0129t0001	a0001c0001t0001g0312 a0001c0001t0004g0002 a0002c0121t0001g0272 others(7): Show a0001c0001t0001g0312 a0001c0001t0004g0002 a0002c0121t0001g0272 a0011c0010t0001g0095 a0012c0036t0004g0002 a0026c0025t0001g0084 a0033c0061t0002g0344 a0033c0116t0002g0109 a0041c0136t0001g0030 a0122c0129t0001g0213	11	73	0.1507	13	c.932 others(30): Show c.932-3826_932-3814dupTTTTTTTTTTTTT	UMODL1	ENSG00000177398.19	transcript	ENST00000408910.7	protein_coding	6/22		INFO_REALIGN_3_PRIME	chr21	TogoVar
UNC13A_chr19_17596336_17693354	17680889	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02738.hp1 HG02738.hp1	a0006 a0006	a0006c0025 a0006c0025	a0006c0025t0001 a0006c0025t0001	a0006c0025t0001g0029 a0006c0025t0001g0029	1	135	0.0074	13	c.23- others(28): Show c.23-4861_23-4849dupAAAAAAAAAAAAA	UNC13A	ENSG00000130477.16	transcript	ENST00000519716.7	protein_coding	1/43			chr19	TogoVar
UNC13B_chr9_35157009_35410335	35157648	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01168.hp2 HG01346.hp2 HG01952.hp2 others(1): Show HG01168.hp2 HG01346.hp2 HG01952.hp2 HG02572.hp1	a0002 a0003 a0017 others(1): Show a0002 a0003 a0017 a0021	a0002c0031 a0003c0002 a0017c0029 others(1): Show a0002c0031 a0003c0002 a0017c0029 a0021c0039	a0002c0031t0001 a0003c0002t0001 a0017c0029t0001 others(1): Show a0002c0031t0001 a0003c0002t0001 a0017c0029t0001 a0021c0039t0001	a0002c0031t0001g0038 a0003c0002t0001g0051 a0017c0029t0001g0050 others(1): Show a0002c0031t0001g0038 a0003c0002t0001g0051 a0017c0029t0001g0050 a0021c0039t0001g0215	4	10	0.4000	13	c.-46 others(24): Show c.-4636_-4635insTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding		4360		chr9	TogoVar
UNC13B_chr9_35157009_35410335	35232177	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG02451.hp1 HG02615.hp2 others(2): Show HG01074.hp1 HG02451.hp1 HG02615.hp2 HG03209.hp1 HG03688.hp2	a0001 a0005 a0012 a0001 a0005 a0012	a0001c0007 a0005c0006 a0012c0014 a0001c0007 a0005c0006 a0012c0014	a0001c0007t0001 a0005c0006t0001 a0012c0014t0004 a0001c0007t0001 a0005c0006t0001 a0012c0014t0004	a0001c0007t0001g0183 a0005c0006t0001g0194 a0005c0006t0001g0203 others(2): Show a0001c0007t0001g0183 a0005c0006t0001g0194 a0005c0006t0001g0203 a0005c0006t0001g0209 a0012c0014t0004g0018	5	32	0.1563	13	c.152 others(28): Show c.152+967_152+979dupTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	3/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35257580	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0032 a0032	a0032c0027 a0032c0027	a0032c0027t0001 a0032c0027t0001	a0032c0027t0001g0222 a0032c0027t0001g0222	1	80	0.0125	13	c.469 others(30): Show c.469-1395_469-1383dupAAAAAAAAAAAAA	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	6/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13B_chr9_35157009_35410335	35297547	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03688.hp2 HG03688.hp2	a0012 a0012	a0012c0014 a0012c0014	a0012c0014t0004 a0012c0014t0004	a0012c0014t0004g0018 a0012c0014t0004g0018	1	185	0.0054	13	c.761 others(30): Show c.761+1625_761+1637dupTTTTTTTTTTTTT	UNC13B	ENSG00000198722.15	transcript	ENST00000635942.2	protein_coding	8/39		INFO_REALIGN_3_PRIME	chr9	TogoVar
UNC13C_chr15_53973441_54633605	53976477	C C	CTCTTTTT others(6): Show CTCTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0157 a0001c0002t0051g0157	1	26	0.0385	13	c.-27 others(24): Show c.-2707_-2706insTCTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding		1963		chr15	TogoVar
UNC13C_chr15_53973441_54633605	53976477	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00423.hp1 HG01243.hp2 HG01515.hp1 others(3): Show HG00423.hp1 HG01243.hp2 HG01515.hp1 HG01515.hp2 HG02109.hp2 NA19090.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(2): Show a0001c0001 a0001c0002 a0001c0003 a0001c0007 a0006c0013	a0001c0001t0006 a0001c0002t0024 a0001c0002t0048 others(3): Show a0001c0001t0006 a0001c0002t0024 a0001c0002t0048 a0001c0003t0005 a0001c0007t0016 a0006c0013t0044	a0001c0001t0006g0122 a0001c0002t0024g0138 a0001c0002t0048g0111 others(3): Show a0001c0001t0006g0122 a0001c0002t0024g0138 a0001c0002t0048g0111 a0001c0003t0005g0128 a0001c0007t0016g0135 a0006c0013t0044g0062	6	31	0.1935	13	c.-27 others(24): Show c.-2707_-2706insTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding		1963		chr15	TogoVar
UNC13C_chr15_53973441_54633605	54038116	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03486.hp1 HG03486.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0051 a0001c0002t0051	a0001c0002t0051g0157 a0001c0002t0051g0157	1	155	0.0065	13	c.298 others(34): Show c.2983+22231_2983+22232insTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54038118	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0018 a0001c0004t0018	a0001c0004t0018g0096 a0001c0004t0018g0096	1	135	0.0074	13	c.298 others(34): Show c.2983+22233_2983+22234insTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54038124	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0067 a0001c0001t0002g0067	1	19	0.0526	13	c.298 others(34): Show c.2983+22242_2983+22254dupTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54086737	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02886.hp2 HG02886.hp2	a0001 a0001	a0001c0034 a0001c0034	a0001c0034t0058 a0001c0034t0058	a0001c0034t0058g0149 a0001c0034t0058g0149	1	56	0.0179	13	c.298 others(34): Show c.2984-56275_2984-56263dupTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54132074	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0055 a0001c0004t0055	a0001c0004t0055g0095 a0001c0004t0055g0095	1	40	0.0250	13	c.298 others(34): Show c.2984-10932_2984-10931insTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54138953	A A	ATTTTTTT others(6): Show ATTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG01358.hp1 HG01515.hp1 others(11): Show HG00738.hp1 HG01358.hp1 HG01515.hp1 HG01993.hp2 HG02258.hp1 HG02300.hp1 HG02559.hp1 HG02630.hp1 HG03098.hp1 HG03195.hp1 HG03540.hp2 HG03927.hp1 NA18953.hp1 NA18964.hp2	a0001 a0002 a0011 a0001 a0002 a0011	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0002c0018 a0011c0024	a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 others(11): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0011 a0001c0001t0014 a0001c0001t0038 a0001c0002t0013 a0001c0002t0024 a0001c0002t0048 a0001c0003t0005 a0001c0003t0039 a0001c0004t0018 a0001c0005t0003 a0002c0018t0004 a0011c0024t0028	a0001c0001t0001g0044 a0001c0001t0007g0016 a0001c0001t0011g0077 others(11): Show a0001c0001t0001g0044 a0001c0001t0007g0016 a0001c0001t0011g0077 a0001c0001t0014g0083 a0001c0001t0038g0100 a0001c0002t0013g0153 a0001c0002t0024g0116 a0001c0002t0048g0111 a0001c0003t0005g0120 a0001c0003t0039g0101 a0001c0004t0018g0096 a0001c0005t0003g0066 a0002c0018t0004g0046 a0011c0024t0028g0017	14	19	0.7368	13	c.298 others(32): Show c.2984-4052_2984-4040dupTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	2/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54250749	C C	CTTTCTTT others(6): Show CTTTCTTTCTTTCT	intron_variant intron_variant	MODIFIER	NA20129.hp2 NA20300.hp1 NA20129.hp2 NA20300.hp1	a0001 a0003 a0001 a0003	a0001c0004 a0003c0008 a0001c0004 a0003c0008	a0001c0004t0028 a0003c0008t0015 a0001c0004t0028 a0003c0008t0015	a0001c0004t0028g0148 a0003c0008t0015g0091 a0001c0004t0028g0148 a0003c0008t0015g0091	2	134	0.0149	13	c.344 others(30): Show c.3448+308_3448+309insCTTTCTTTCTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	8/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54250752	T T	TCTTTCTT others(6): Show TCTTTCTTTCTTTC	intron_variant intron_variant	MODIFIER	HG01109.hp1 HG02109.hp1 HG02486.hp1 others(10): Show HG01109.hp1 HG02109.hp1 HG02486.hp1 HG02622.hp1 HG02896.hp1 HG02897.hp2 HG02970.hp2 HG03195.hp2 HG03209.hp1 HG03927.hp2 NA18952.hp2 NA18954.hp2 NA19081.hp1	a0001 a0005 a0012 a0001 a0005 a0012	a0001c0001 a0001c0002 a0001c0003 others(4): Show a0001c0001 a0001c0002 a0001c0003 a0001c0021 a0001c0041 a0005c0011 a0012c0025	a0001c0001t0007 a0001c0001t0018 a0001c0001t0025 others(7): Show a0001c0001t0007 a0001c0001t0018 a0001c0001t0025 a0001c0002t0001 a0001c0002t0020 a0001c0003t0005 a0001c0021t0013 a0001c0041t0025 a0005c0011t0003 a0012c0025t0018	a0001c0001t0007g0028 a0001c0001t0018g0033 a0001c0001t0025g0003 others(10): Show a0001c0001t0007g0028 a0001c0001t0018g0033 a0001c0001t0025g0003 a0001c0002t0001g0031 a0001c0002t0001g0032 a0001c0002t0020g0024 a0001c0003t0005g0125 a0001c0021t0013g0038 a0001c0021t0013g0039 a0001c0041t0025g0156 a0005c0011t0003g0072 a0005c0011t0003g0078 a0012c0025t0018g0030	13	145	0.0897	13	c.344 others(30): Show c.3448+308_3448+309insCTTTCTTTCTTTC	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	8/32			chr15	TogoVar
UNC13C_chr15_53973441_54633605	54408199	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA20752.hp1 NA18989.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0006 a0001c0003t0042 a0001c0001t0006 a0001c0003t0042	a0001c0001t0006g0137 a0001c0003t0042g0107 a0001c0001t0006g0137 a0001c0003t0042g0107	2	37	0.0541	13	c.484 others(32): Show c.4848-6765_4848-6753dupAAAAAAAAAAAAA	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	18/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54463265	C C	CGGGGGGG others(6): Show CGGGGGGGGGGGGG	intron_variant intron_variant	MODIFIER	HG00735.hp1 HG02155.hp1 HG00735.hp1 HG02155.hp1	a0001 a0002 a0001 a0002	a0001c0007 a0002c0017 a0001c0007 a0002c0017	a0001c0007t0012 a0002c0017t0007 a0001c0007t0012 a0002c0017t0007	a0001c0007t0012g0154 a0002c0017t0007g0060 a0001c0007t0012g0154 a0002c0017t0007g0060	2	78	0.0256	13	c.493 others(34): Show c.4934-31338_4934-31326dupGGGGGGGGGGGGG	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54463271	G G	GGGGGGGG others(6): Show GGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00639.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0126 a0001c0002t0005g0126	1	135	0.0074	13	c.493 others(34): Show c.4934-31326_4934-31325insGTGGGGGGGGGGG	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54463272	G G	GGGGGGGG others(6): Show GGGGGGGGGGGGGT	intron_variant intron_variant	MODIFIER	HG02258.hp2 HG02615.hp2 HG02258.hp2 HG02615.hp2	a0001 a0001	a0001c0004 a0001c0035 a0001c0004 a0001c0035	a0001c0004t0055 a0001c0035t0001 a0001c0004t0055 a0001c0035t0001	a0001c0004t0055g0095 a0001c0035t0001g0001 a0001c0004t0055g0095 a0001c0035t0001g0001	2	124	0.0161	13	c.493 others(34): Show c.4934-31326_4934-31325insGGTGGGGGGGGGG	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC13C_chr15_53973441_54633605	54486250	A A	ACACACAC others(6): Show ACACACACACACAC	intron_variant intron_variant	MODIFIER	NA18991.hp1 NA18991.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0103 a0001c0003t0003g0103	1	21	0.0476	13	c.493 others(32): Show c.4934-8358_4934-8357insCACACACACACAC	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	19/32			chr15	TogoVar
UNC13C_chr15_53973441_54633605	54548208	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0022 a0001c0002t0022	a0001c0002t0022g0092 a0001c0002t0022g0092	1	46	0.0217	13	c.582 others(32): Show c.5820+1381_5820+1393dupTTTTTTTTTTTTT	UNC13C	ENSG00000137766.18	transcript	ENST00000260323.16	protein_coding	27/32		INFO_REALIGN_3_PRIME	chr15	TogoVar
UNC5A_chr5_176805559_176885898	176806022	G G	GAAGGAAG others(6): Show GAAGGAAGGAAGGA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02145.hp1 HG03516.hp2 HG02145.hp1 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0118 a0001c0001t0002g0186 a0001c0001t0002g0118 a0001c0001t0002g0186	2	69	0.0290	13	c.-47 others(24): Show c.-4729_-4728insAAGGAAGGAAGGA	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding		4536		chr5	TogoVar
UNC5A_chr5_176805559_176885898	176829881	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02965.hp2 NA20300.hp2 HG02965.hp2 NA20300.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0010 a0001c0001t0002g0012 a0001c0001t0002g0010 a0001c0001t0002g0012	2	72	0.0278	13	c.70+ others(30): Show c.70+19072_70+19073insTTTTTTTTTTTTT	UNC5A	ENSG00000113763.12	transcript	ENST00000329542.9	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr5	TogoVar
UNC5B_chr10_71207570_71307864	71247795	A A	AAGACATG others(6): Show AAGACATGCTTCCT	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02559.hp1 HG02886.hp1 others(4): Show HG02451.hp1 HG02559.hp1 HG02886.hp1 HG02895.hp1 HG02897.hp2 HG03579.hp1 HG03834.hp1	a0001 a0002 a0003 others(1): Show a0001 a0002 a0003 a0006	a0001c0002 a0001c0003 a0002c0005 others(2): Show a0001c0002 a0001c0003 a0002c0005 a0003c0032 a0006c0013	a0001c0002t0032 a0001c0003t0036 a0002c0005t0014 others(2): Show a0001c0002t0032 a0001c0003t0036 a0002c0005t0014 a0003c0032t0012 a0006c0013t0040	a0001c0002t0032g0004 a0001c0003t0036g0132 a0002c0005t0014g0047 others(3): Show a0001c0002t0032g0004 a0001c0003t0036g0132 a0002c0005t0014g0047 a0003c0032t0012g0014 a0006c0013t0040g0200 a0006c0013t0040g0297	7	366	0.0191	13	c.80- others(30): Show c.80-32025_80-32013dupAGACATGCTTCCT	UNC5B	ENSG00000107731.12	transcript	ENST00000335350.10	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr10	TogoVar
UNC5C_chr4_95157504_95553973	95160621	C C	CCCTCCCT others(6): Show CCCTCCCTTCCCTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0009 a0001c0009	a0001c0009t0035 a0001c0009t0035	a0001c0009t0035g0181 a0001c0009t0035g0181	1	204	0.0049	13	c.86 others(24): Show c.8612_*8613insAAGGGAAGGGAGG	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding		1882		chr4	TogoVar
UNC5C_chr4_95157504_95553973	95258746	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18946.hp1 NA18946.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0027 a0001c0003t0027	a0001c0003t0027g0065 a0001c0003t0027g0065	1	105	0.0095	13	c.595 others(30): Show c.595-8092_595-8080dupAAAAAAAAAAAAA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	4/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95354479	A A	ATATATAT others(6): Show ATATATATATTTTT	intron_variant intron_variant	MODIFIER	HG02145.hp1 HG02145.hp1	a0006 a0006	a0006c0042 a0006c0042	a0006c0042t0003 a0006c0042t0003	a0006c0042t0003g0158 a0006c0042t0003g0158	1	146	0.0068	13	c.125 others(32): Show c.125-18849_125-18848insAAAAATATATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95354479	A A	ATATATTT others(6): Show ATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp1 NA18988.hp2 HG03831.hp1 NA18988.hp2	a0001 a0002 a0001 a0002	a0001c0004 a0002c0007 a0001c0004 a0002c0007	a0001c0004t0001 a0002c0007t0002 a0001c0004t0001 a0002c0007t0002	a0001c0004t0001g0141 a0002c0007t0002g0166 a0001c0004t0001g0141 a0002c0007t0002g0166	2	147	0.0136	13	c.125 others(32): Show c.125-18849_125-18848insAAAAAAAAATATA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95398044	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01099.hp1 HG02895.hp1 HG02897.hp1 HG01099.hp1 HG02895.hp1 HG02897.hp1	a0001 a0001	a0001c0003 a0001c0015 a0001c0003 a0001c0015	a0001c0003t0002 a0001c0015t0003 a0001c0003t0002 a0001c0015t0003	a0001c0003t0002g0100 a0001c0015t0003g0188 a0001c0015t0003g0189 a0001c0003t0002g0100 a0001c0015t0003g0188 a0001c0015t0003g0189	3	52	0.0577	13	c.125 others(32): Show c.125-62426_125-62414dupAAAAAAAAAAAAA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5C_chr4_95157504_95553973	95424518	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03831.hp2 NA18962.hp1 HG03831.hp2 NA18962.hp1	a0001 a0001	a0001c0005 a0001c0023 a0001c0005 a0001c0023	a0001c0005t0019 a0001c0023t0001 a0001c0005t0019 a0001c0023t0001	a0001c0005t0019g0010 a0001c0023t0001g0056 a0001c0005t0019g0010 a0001c0023t0001g0056	2	72	0.0278	13	c.125 others(32): Show c.125-88900_125-88888dupAAAAAAAAAAAAA	UNC5C	ENSG00000182168.16	transcript	ENST00000453304.6	protein_coding	1/15			chr4	TogoVar
UNC5D_chr8_35230475_35801540	35230490	A A	ACACACAC others(6): Show ACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0008 a0001c0002t0008	a0001c0002t0008g0047 a0001c0002t0008g0047	1	58	0.0172	13	c.-52 others(24): Show c.-5295_-5294insCACACACACACAC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding		4984		chr8	TogoVar
UNC5D_chr8_35230475_35801540	35230512	C C	CACACACA others(6): Show CACACACAAAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0050 a0001c0004t0022g0050	1	21	0.0476	13	c.-52 others(24): Show c.-5273_-5272insACACACAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding		4962		chr8	TogoVar
UNC5D_chr8_35230475_35801540	35230512	C C	CACACACA others(6): Show CACACACACAAAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp2 HG02615.hp1 HG02965.hp1 others(2): Show HG02559.hp2 HG02615.hp1 HG02965.hp1 HG03130.hp2 HG03453.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 others(2): Show a0001c0001t0002 a0001c0001t0004 a0001c0002t0001 a0001c0003t0003 a0001c0003t0023	a0001c0001t0002g0018 a0001c0001t0004g0035 a0001c0002t0001g0020 others(2): Show a0001c0001t0002g0018 a0001c0001t0004g0035 a0001c0002t0001g0020 a0001c0003t0003g0022 a0001c0003t0023g0005	5	25	0.2000	13	c.-52 others(24): Show c.-5273_-5272insACACACACAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding		4962		chr8	TogoVar
UNC5D_chr8_35230475_35801540	35230512	C C	CACACACA others(6): Show CACACACACACAAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02559.hp1 HG02559.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0003 a0001c0004t0003	a0001c0004t0003g0046 a0001c0004t0003g0046	1	21	0.0476	13	c.-52 others(24): Show c.-5273_-5272insACACACACACAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding		4962		chr8	TogoVar
UNC5D_chr8_35230475_35801540	35230512	C C	CACACACA others(6): Show CACACACACACACA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02257.hp1 HG03209.hp2 HG03471.hp1 others(1): Show HG02257.hp1 HG03209.hp2 HG03471.hp1 NA18522.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0003 a0002c0005 a0001c0001 a0001c0003 a0002c0005	a0001c0001t0002 a0001c0003t0005 a0002c0005t0018 a0001c0001t0002 a0001c0003t0005 a0002c0005t0018	a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0003t0005g0048 others(1): Show a0001c0001t0002g0057 a0001c0001t0002g0059 a0001c0003t0005g0048 a0002c0005t0018g0054	4	24	0.1667	13	c.-52 others(24): Show c.-5273_-5272insACACACACACACA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding		4962		chr8	TogoVar
UNC5D_chr8_35230475_35801540	35230513	A A	ACACACAC others(6): Show ACACACACACACAC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02886.hp1 HG03239.hp1 HG03516.hp1 HG02886.hp1 HG03239.hp1 HG03516.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0011 a0001c0001t0001 a0001c0001t0002 a0001c0003t0011	a0001c0001t0001g0060 a0001c0001t0002g0049 a0001c0003t0011g0056 a0001c0001t0001g0060 a0001c0001t0002g0049 a0001c0003t0011g0056	3	59	0.0508	13	c.-52 others(24): Show c.-5272_-5271insCACACACACACAC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding		4961		chr8	TogoVar
UNC5D_chr8_35230475_35801540	35365591	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03453.hp2	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0022 a0001c0004t0022	a0001c0004t0022g0050 a0001c0004t0022g0050	1	12	0.0833	13	c.103 others(34): Show c.103+129718_103+129730dupAAAAAAAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35487593	A A	ACACACAC others(6): Show ACACACACACCCCC	intron_variant intron_variant	MODIFIER	HG03471.hp1 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0059 a0001c0001t0002g0059	1	58	0.0172	13	c.104 others(32): Show c.104-61698_104-61697insACACACACCCCCC	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35749989	T T	TAAAAAAA others(6): Show TAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0049 a0001c0001t0002g0049	1	24	0.0417	13	c.193 others(30): Show c.1936-581_1936-580insAAAAAAAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	12/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC5D_chr8_35230475_35801540	35774926	C C	CAAAAAAA others(6): Show CAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG03130.hp2 HG03471.hp1 HG03130.hp2 HG03471.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0018 a0001c0001t0002g0059 a0001c0001t0002g0018 a0001c0001t0002g0059	2	24	0.0833	13	c.265 others(30): Show c.2657+452_2657+464dupAAAAAAAAAAAAA	UNC5D	ENSG00000156687.11	transcript	ENST00000404895.7	protein_coding	16/16		INFO_REALIGN_3_PRIME	chr8	TogoVar
UNC79_chr14_93425939_93712876	93459674	C C	CTTTTTTT others(6): Show CTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00558.hp1 HG00642.hp1 HG00733.hp1 others(19): Show HG00558.hp1 HG00642.hp1 HG00733.hp1 HG01109.hp2 HG01255.hp1 HG01346.hp2 HG02109.hp1 HG02257.hp1 HG02630.hp1 HG03139.hp1 HG03486.hp2 HG03579.hp1 HG03688.hp1 HG03831.hp1 HG03831.hp2 HG03942.hp1 HG03942.hp2 NA18906.hp1 NA18949.hp2 NA18955.hp1 NA18984.hp1 NA20905.hp1	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0005	a0001c0001 a0001c0002 a0001c0005 others(10): Show a0001c0001 a0001c0002 a0001c0005 a0001c0006 a0001c0011 a0002c0003 a0002c0017 a0002c0039 a0003c0004 a0003c0022 a0003c0036 a0004c0012 a0005c0018	a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 others(10): Show a0001c0001t0001 a0001c0002t0001 a0001c0005t0001 a0001c0006t0001 a0001c0011t0001 a0002c0003t0001 a0002c0017t0001 a0002c0039t0001 a0003c0004t0001 a0003c0022t0001 a0003c0036t0001 a0004c0012t0001 a0005c0018t0001	a0001c0001t0001g0133 a0001c0002t0001g0165 a0001c0002t0001g0167 others(19): Show a0001c0001t0001g0133 a0001c0002t0001g0165 a0001c0002t0001g0167 a0001c0002t0001g0169 a0001c0002t0001g0187 a0001c0005t0001g0110 a0001c0006t0001g0172 a0001c0006t0001g0173 a0001c0006t0001g0174 a0001c0011t0001g0129 a0002c0003t0001g0137 a0002c0017t0001g0175 a0002c0017t0001g0177 a0002c0017t0001g0178 a0002c0039t0001g0157 a0003c0004t0001g0102 a0003c0004t0001g0111 a0003c0004t0001g0126 a0003c0022t0001g0131 a0003c0036t0001g0123 a0004c0012t0001g0148 a0005c0018t0001g0176	22	88	0.2500	13	c.23- others(28): Show c.23-7995_23-7983dupTTTTTTTTTTTTT	UNC79	ENSG00000133958.14	transcript	ENST00000695012.1	protein_coding	1/51		INFO_REALIGN_3_PRIME	chr14	TogoVar

Search by Variant

Search

Search Results