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
GABRB3_chr15_26538552_26778066	26606768	C C	CTATCGAT others(21): Show CTATCGATAGATATATCTATCGATAGATA	intron_variant intron_variant	MODIFIER	HG02896.hp1 HG02896.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0195 a0001c0001t0015g0195	1	177	0.0056	28	c.461 others(47): Show c.461+14545_461+14546insTATCTATCGATAGATATATCTATCGA TA	GABRB3	ENSG00000166206.16	transcript	ENST00000311550.10	protein_coding	4/8			chr15	TogoVar
GABRG1_chr4_46030769_46129054	46048370	A A	AGAAGGAA others(21): Show AGAAGGAAGGAAGGAAGGAAGGAAGGAAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG01071.hp1 HG03927.hp1 HG01070.hp2 HG01071.hp1 HG03927.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0008 a0001c0002t0005g0079 a0001c0002t0005g0008 a0001c0002t0005g0079	3	74	0.0405	28	c.113 others(47): Show c.1131+3026_1131+3053dupCTTCCTTCCTTCCTTCCTTCCTTCCT TC	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding	8/8			chr4	TogoVar
GABRG1_chr4_46030769_46129054	46128321	G G	GATATATA others(21): Show GATATATATATATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02109.hp2 HG02145.hp1 HG02572.hp2 others(3): Show HG02109.hp2 HG02145.hp1 HG02572.hp2 HG02622.hp1 HG02647.hp1 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0007 a0001c0002t0004 a0001c0002t0007	a0001c0002t0004g0030 a0001c0002t0004g0032 a0001c0002t0004g0039 others(3): Show a0001c0002t0004g0030 a0001c0002t0004g0032 a0001c0002t0004g0039 a0001c0002t0004g0040 a0001c0002t0007g0062 a0001c0002t0007g0063	6	288	0.0208	28	c.-44 others(39): Show c.-4409_-4408insATATATATATATATATATATATATATAT	GABRG1	ENSG00000163285.8	transcript	ENST00000295452.5	protein_coding		4268		chr4	TogoVar
GABRG2_chr5_162062773_162160526	162109389	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0027 a0001c0001t0002g0027	1	50	0.0200	28	c.769 others(45): Show c.769+5370_769+5397dupATATATATATATATATATATATATATAT	GABRG2	ENSG00000113327.17	transcript	ENST00000639213.2	protein_coding	6/9		INFO_REALIGN_3_PRIME	chr5	TogoVar
GABRG3_chr15_26966181_27546984	27001888	G G	GTTTTTTT others(21): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03453.hp1 HG03453.hp1	a0001 a0001	a0001c0011 a0001c0011	a0001c0011t0018 a0001c0011t0018	a0001c0011t0018g0004 a0001c0011t0018g0004	1	34	0.0294	28	c.202 others(47): Show c.202+24753_202+24754insTTTTTTTTTTTTTTTTTTTTTTTTTT TT	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	2/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27062434	T T	TAAAAAAA others(21): Show TAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01109.hp2 HG01109.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0008 a0001c0008t0008	a0001c0008t0008g0002 a0001c0008t0008g0002	1	31	0.0323	28	c.270 others(47): Show c.270+35637_270+35638insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27307261	T T	TTATATGT others(21): Show TTATATGTTTATATATAACCATAGGTTTA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG01981.hp1 HG03195.hp1 others(2): Show HG00408.hp1 HG01981.hp1 HG03195.hp1 HG03710.hp1 HG03834.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 others(2): Show a0001c0001t0001 a0001c0001t0007 a0001c0001t0012 a0001c0002t0001 a0001c0002t0006	a0001c0001t0001g0033 a0001c0001t0007g0014 a0001c0001t0012g0025 others(2): Show a0001c0001t0001g0033 a0001c0001t0007g0014 a0001c0001t0012g0025 a0001c0002t0001g0079 a0001c0002t0006g0062	5	81	0.0617	28	c.271 others(47): Show c.271-19469_271-19442dupGGTTTATATATGTTTATATATAACCA TA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27307363	C C	CCATATAG others(21): Show CCATATAGGTTTATATATTTATATATAAA	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG03492.hp2 HG01433.hp2 HG03492.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0029 a0001c0002t0001 a0001c0002t0029	a0001c0002t0001g0027 a0001c0002t0029g0032 a0001c0002t0001g0027 a0001c0002t0029g0032	2	45	0.0444	28	c.271 others(47): Show c.271-19419_271-19418insACATATAGGTTTATATATTTATATAT AA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27307391	C C	CCATATAG others(21): Show CCATATAGGTTTATATATTTATATATAAA	intron_variant intron_variant	MODIFIER	HG03710.hp1 HG03710.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0079 a0001c0002t0001g0079	1	18	0.0556	28	c.271 others(47): Show c.271-19357_271-19330dupTAGGTTTATATATTTATATATAAACA TA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GABRG3_chr15_26966181_27546984	27308167	T T	TATGTTTA others(21): Show TATGTTTATACATCCAAACATATATAAAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG02109.hp2 HG01243.hp1 HG02109.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0026 a0001c0002t0001g0049 a0001c0001t0001g0026 a0001c0002t0001g0049	2	70	0.0286	28	c.271 others(47): Show c.271-18633_271-18632insCATCCAAACATATATAAACATGTTTA TA	GABRG3	ENSG00000182256.13	transcript	ENST00000615808.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GADD45GIP1_chr19_12948119_12962223	12962192	A A	ATTTCTTT others(21): Show ATTTCTTTCTTTCTTTATTTCTTTCTTTC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	291	0.0034	28	c.-49 others(39): Show c.-4981_-4980insGAAAGAAAGAAATAAAGAAAGAAAGAAA	GADD45GIP1	ENSG00000179271.3	transcript	ENST00000316939.3	protein_coding		4970		chr19	TogoVar
GADL1_chr3_30721197_30899661	30805734	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp1 NA19030.hp2 HG03209.hp1 NA19030.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0003c0003 a0001c0001 a0003c0003	a0001c0001t0019 a0003c0003t0005 a0001c0001t0019 a0003c0003t0005	a0001c0001t0019g0239 a0003c0003t0005g0119 a0001c0001t0019g0239 a0003c0003t0005g0119	2	69	0.0290	28	c.105 others(47): Show c.1051-4647_1051-4646insAAAAAAAAAAAAAAAAAAAAAAAAAA AA	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	11/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30867439	T T	TATATATA others(21): Show TATATATATATATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02074.hp2 HG02074.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0254 a0001c0001t0001g0254	1	218	0.0046	28	c.38- others(43): Show c.38-5675_38-5674insGTGTATATATATATATATATATATATAT	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	1/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30867439	T T	TATATATA others(21): Show TATATATATATATATATATATATATATAC	intron_variant intron_variant	MODIFIER	HG02056.hp2 HG02071.hp2 HG03834.hp2 others(6): Show HG02056.hp2 HG02071.hp2 HG03834.hp2 HG04204.hp2 NA18747.hp2 NA18970.hp2 NA18979.hp1 NA19011.hp1 NA19012.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006	a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0245 others(6): Show a0001c0001t0001g0082 a0001c0001t0001g0092 a0001c0001t0001g0245 a0001c0001t0001g0257 a0001c0001t0002g0095 a0001c0001t0002g0255 a0001c0001t0003g0240 a0001c0001t0003g0270 a0001c0001t0006g0256	9	226	0.0398	28	c.38- others(43): Show c.38-5675_38-5674insGTATATATATATATATATATATATATAT	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding	1/14			chr3	TogoVar
GADL1_chr3_30721197_30899661	30895247	T T	TTGTGTGT others(21): Show TTGTGTGTGTGTGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01081.hp2 HG02083.hp2 HG02109.hp2 others(13): Show HG01081.hp2 HG02083.hp2 HG02109.hp2 HG02630.hp2 HG02683.hp1 HG03098.hp1 HG03209.hp2 NA18955.hp1 NA18955.hp2 NA18984.hp2 NA18992.hp1 NA18994.hp2 NA19000.hp1 NA19002.hp2 NA19011.hp2 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0007 a0001c0001 a0001c0007	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(5): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0004 a0001c0001t0006 a0001c0001t0007 a0001c0001t0010 a0001c0007t0027	a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0043 others(13): Show a0001c0001t0001g0018 a0001c0001t0001g0029 a0001c0001t0001g0043 a0001c0001t0001g0044 a0001c0001t0001g0087 a0001c0001t0001g0105 a0001c0001t0002g0023 a0001c0001t0002g0042 a0001c0001t0002g0056 a0001c0001t0003g0052 a0001c0001t0004g0114 a0001c0001t0006g0054 a0001c0001t0007g0078 a0001c0001t0007g0116 a0001c0001t0010g0036 a0001c0007t0027g0060	16	175	0.0914	28	c.-63 others(37): Show c.-634_-633insCACACACACACACACACACACACACACA	GADL1	ENSG00000144644.15	transcript	ENST00000282538.10	protein_coding		587		chr3	TogoVar
GAGE1_chrX_49594020_49613538	49611374	T T	TTTATTTA others(21): Show TTTATTTATTTATTATTTAGTAATAAATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00738.hp1 HG00738.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0031 a0001c0001t0004g0031	1	309	0.0032	28	c.53 others(39): Show c.5359_*5360insTTATTTATTTATTATTTAGTAATAAATA	GAGE1	ENSG00000205777.19	transcript	ENST00000381700.11	protein_coding		2837		chrX	TogoVar
GAL3ST4_chr7_100154244_100173617	100172659	G G	GTATATAT others(21): Show GTATATATATATATGTGTGTGTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02486.hp1 NA20129.hp1 HG02486.hp1 NA20129.hp1	a0002 a0002	a0002c0002 a0002c0003 a0002c0002 a0002c0003	a0002c0002t0001 a0002c0003t0003 a0002c0002t0001 a0002c0003t0003	a0002c0002t0001g0092 a0002c0003t0003g0072 a0002c0002t0001g0092 a0002c0003t0003g0072	2	397	0.0050	28	c.-43 others(39): Show c.-4330_-4303dupTACACACACACACACATATATATATATA	GAL3ST4	ENSG00000197093.11	transcript	ENST00000360039.9	protein_coding		4043		chr7	TogoVar
GAL3ST4_chr7_100154244_100173617	100172685	G G	GTATATAT others(21): Show GTATATATATATATGTGTGTGTGTGTGTA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01884.hp1 HG01891.hp1 HG02257.hp1 others(13): Show HG01884.hp1 HG01891.hp1 HG02257.hp1 HG02486.hp2 HG02615.hp1 HG02630.hp1 HG02818.hp2 HG02886.hp1 HG02965.hp2 HG02970.hp2 HG02976.hp1 HG03486.hp2 HG03579.hp1 HG06807.hp2 NA18522.hp1 NA19240.hp2	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0003 a0003c0005 a0001c0001 a0002c0003 a0003c0005	a0001c0001t0001 a0001c0001t0005 a0002c0003t0003 others(1): Show a0001c0001t0001 a0001c0001t0005 a0002c0003t0003 a0003c0005t0001	a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0053 others(9): Show a0001c0001t0001g0030 a0001c0001t0001g0045 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0135 a0001c0001t0001g0152 a0001c0001t0001g0158 a0001c0001t0005g0151 a0002c0003t0003g0024 a0003c0005t0001g0068	16	386	0.0415	28	c.-43 others(39): Show c.-4329_-4328insTACACACACACACACATATATATATATA	GAL3ST4	ENSG00000197093.11	transcript	ENST00000360039.9	protein_coding		4069		chr7	TogoVar
GAL3ST4_chr7_100154244_100173617	100172702	T T	TGTGTGTG others(21): Show TGTGTGTGTGTATATATATATATACATGC	upstream_gene_variant upstream_gene_variant	MODIFIER	NA18906.hp1 NA18906.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	400	0.0025	28	c.-43 others(39): Show c.-4346_-4345insGCATGTATATATATATATACACACACAC	GAL3ST4	ENSG00000197093.11	transcript	ENST00000360039.9	protein_coding		4086		chr7	TogoVar
GALC_chr14_87928014_87998182	87936896	C C	CTATATAT others(21): Show CTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02074.hp2 HG02922.hp2 others(6): Show HG01884.hp2 HG02074.hp2 HG02922.hp2 NA18747.hp1 NA18943.hp2 NA18982.hp2 NA19004.hp1 NA19084.hp2 NA19090.hp1	a0001 a0002 a0001 a0002	a0001c0001 a0001c0006 a0002c0004 a0001c0001 a0001c0006 a0002c0004	a0001c0001t0001 a0001c0006t0001 a0002c0004t0002 a0001c0001t0001 a0001c0006t0001 a0002c0004t0002	a0001c0001t0001g0103 a0001c0001t0001g0311 a0001c0006t0001g0138 others(5): Show a0001c0001t0001g0103 a0001c0001t0001g0311 a0001c0006t0001g0138 a0002c0004t0002g0028 a0002c0004t0002g0285 a0002c0004t0002g0286 a0002c0004t0002g0288 a0002c0004t0002g0293	9	47	0.1915	28	c.191 others(47): Show c.1912-2019_1912-2018insTATATATATATATATATATATATATA TA	GALC	ENSG00000054983.17	transcript	ENST00000261304.7	protein_coding	16/16			chr14	TogoVar
GALK2_chr15_49165247_49336882	49228682	T T	TATATATA others(21): Show TATATATATATATATATATATATACATAC	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG03098.hp2 NA18906.hp2 HG02615.hp2 HG03098.hp2 NA18906.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0001t0002g0048 a0001c0001t0002g0050 a0001c0001t0002g0051	3	315	0.0095	28	c.267 others(45): Show c.267-7163_267-7162insATATATATATATATATACATACATATAT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49228687	A A	ATATATAT others(21): Show ATATATATATATATATATATTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01243.hp2 NA18522.hp2 HG01243.hp2 NA18522.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0182 a0001c0002t0011g0183 a0001c0002t0011g0182 a0001c0002t0011g0183	2	137	0.0146	28	c.267 others(45): Show c.267-7163_267-7162insATATATATATATATATATTTTTTTTTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49299709	G G	GCTTTCTT others(21): Show GCTTTCTTTCTTTCTTTCTTTCTTTCTTT	intron_variant intron_variant	MODIFIER	HG00741.hp2 HG01884.hp2 HG03491.hp2 others(1): Show HG00741.hp2 HG01884.hp2 HG03491.hp2 HG03942.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0004 a0001c0002t0003 a0001c0002t0004	a0001c0002t0003g0137 a0001c0002t0004g0173 a0001c0002t0004g0176 others(1): Show a0001c0002t0003g0137 a0001c0002t0004g0173 a0001c0002t0004g0176 a0001c0002t0004g0178	4	322	0.0124	28	c.967 others(45): Show c.967+7173_967+7200dupCTTTCTTTCTTTCTTTCTTTCTTTCTTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49299735	T T	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 HG03486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0004 a0001c0002t0004	a0001c0002t0004g0186 a0001c0002t0004g0186	1	230	0.0043	28	c.967 others(45): Show c.967+7200_967+7201insCTTTCTTTCTTTCTTTCTTTCTTTCCTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALK2_chr15_49165247_49336882	49299735	T T	TTTCTTTC others(21): Show TTTCTTTCTTTCTTTCTTTCTTTCTTTTC	intron_variant intron_variant	MODIFIER	HG00609.hp1 HG00609.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0003 a0001c0002t0003	a0001c0002t0003g0163 a0001c0002t0003g0163	1	230	0.0043	28	c.967 others(45): Show c.967+7200_967+7201insCTTTCTTTCTTTCTTTCTTTCTTTTCTT	GALK2	ENSG00000156958.15	transcript	ENST00000560031.6	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr15	TogoVar
GALNT10_chr5_154185733_154425984	154293613	A A	ATATATAT others(21): Show ATATATATATATATATTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG01891.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0005 a0001c0002t0005	a0001c0002t0005g0173 a0001c0002t0005g0173	1	210	0.0048	28	c.160 others(45): Show c.160-1202_160-1201insATATATATATATATTTTTTTTTTTTTTT	GALNT10	ENSG00000164574.16	transcript	ENST00000297107.11	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr5	TogoVar
GALNT12_chr9_98802670_98855081	98854816	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01168.hp1 HG01168.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0002 a0001c0002t0002	a0001c0002t0002g0243 a0001c0002t0002g0243	1	63	0.0159	28	c.57 others(39): Show c.5724_*5725insTATATATATATATATATATATATATATA	GALNT12	ENSG00000119514.7	transcript	ENST00000375011.4	protein_coding		4736		chr9	TogoVar
GALNT13_chr2_153866922_154458979	153884766	A A	AATATATA others(21): Show AATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02135.hp2 HG02055.hp1 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0009 a0001c0001t0004 a0001c0001t0009	a0001c0001t0004g0210 a0001c0001t0009g0083 a0001c0001t0004g0210 a0001c0001t0009g0083	2	143	0.0140	28	c.-17 others(49): Show c.-177+12483_-177+12484insATATATATATATATATATATATAT ATAT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	1/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154269906	G G	GTATATAT others(21): Show GTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG02055.hp1 HG02630.hp2 HG03710.hp2 others(2): Show HG02055.hp1 HG02630.hp2 HG03710.hp2 NA18747.hp1 NA18990.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0034 others(2): Show a0001c0001t0001 a0001c0001t0004 a0001c0001t0034 a0001c0001t0035 a0001c0001t0046	a0001c0001t0001g0021 a0001c0001t0004g0210 a0001c0001t0034g0115 others(2): Show a0001c0001t0001g0021 a0001c0001t0004g0210 a0001c0001t0034g0115 a0001c0001t0035g0094 a0001c0001t0046g0186	5	20	0.2500	28	c.975 others(47): Show c.975+10787_975+10788insATATATATATATATATATATATATAT AT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT13_chr2_153866922_154458979	154269906	G G	GTGTATAT others(21): Show GTGTATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01123.hp2 HG03491.hp1 HG03942.hp1 HG01123.hp2 HG03491.hp1 HG03942.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0011 a0001c0001t0036 a0001c0001t0002 a0001c0001t0011 a0001c0001t0036	a0001c0001t0002g0103 a0001c0001t0011g0082 a0001c0001t0036g0084 a0001c0001t0002g0103 a0001c0001t0011g0082 a0001c0001t0036g0084	3	18	0.1667	28	c.975 others(47): Show c.975+10769_975+10770insGTATATATATATATATATATATATAT AT	GALNT13	ENSG00000144278.15	transcript	ENST00000392825.8	protein_coding	8/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT14_chr2_30905467_31143440	30989559	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp2 HG02809.hp2	a0003 a0003	a0003c0007 a0003c0007	a0003c0007t0001 a0003c0007t0001	a0003c0007t0001g0082 a0003c0007t0001g0082	1	222	0.0045	28	c.299 others(45): Show c.299+3278_299+3279insATATATATATATATATATATATATATAT	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	2/14			chr2	TogoVar
GALNT14_chr2_30905467_31143440	31027886	C C	CTGTGTGT others(21): Show CTGTGTGTGTGTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG04199.hp2 HG04199.hp2	a0002 a0002	a0002c0003 a0002c0003	a0002c0003t0001 a0002c0003t0001	a0002c0003t0001g0055 a0002c0003t0001g0055	1	91	0.0110	28	c.130 others(47): Show c.130-34907_130-34880dupCACACACACACACACACACACACACA CA	GALNT14	ENSG00000158089.15	transcript	ENST00000349752.10	protein_coding	1/14			chr2	TogoVar
GALNT15_chr3_16169680_16235165	16233094	C C	CTTTTTTT others(21): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00544.hp1 HG02071.hp2 HG04199.hp1 others(1): Show HG00544.hp1 HG02071.hp2 HG04199.hp1 NA18965.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0125 others(1): Show a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0125 a0001c0001t0001g0148	4	108	0.0370	28	c.55 others(39): Show c.5594_*5595insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	GALNT15	ENSG00000131386.20	transcript	ENST00000339732.10	protein_coding		2930		chr3	TogoVar
GALNT16_chr14_69255158_69359466	69342474	A A	AAGGGAGG others(21): Show AAGGGAGGAAGGCAGGGAGGGAGGGAGGG	intron_variant intron_variant	MODIFIER	HG01993.hp1 HG02572.hp1 HG02809.hp1 others(2): Show HG01993.hp1 HG02572.hp1 HG02809.hp1 HG02922.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0010 a0001c0001t0017 a0001c0001t0002 a0001c0001t0010 a0001c0001t0017	a0001c0001t0002g0014 a0001c0001t0002g0088 a0001c0001t0010g0023 others(2): Show a0001c0001t0002g0014 a0001c0001t0002g0088 a0001c0001t0010g0023 a0001c0001t0010g0026 a0001c0001t0017g0245	5	160	0.0313	28	c.127 others(45): Show c.1271+717_1271+718insAAGGCAGGGAGGGAGGGAGGGAGGGAGG	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT16_chr14_69255158_69359466	69345703	A A	AGTGTGTG others(21): Show AGTGTGTGTGTGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG01891.hp2 HG02922.hp2 HG03209.hp2 HG01891.hp2 HG02922.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0017 a0001c0001t0002 a0001c0001t0017	a0001c0001t0002g0014 a0001c0001t0002g0085 a0001c0001t0017g0245 a0001c0001t0002g0014 a0001c0001t0002g0085 a0001c0001t0017g0245	3	141	0.0213	28	c.127 others(47): Show c.1272-1330_1272-1303dupGTGTGTGTGTGTGTGTGTGTGTGTGT GT	GALNT16	ENSG00000100626.17	transcript	ENST00000448469.8	protein_coding	12/14		INFO_REALIGN_3_PRIME	chr14	TogoVar
GALNT17_chr7_71127144_71718599	71156579	G G	GTCCTTCC others(21): Show GTCCTTCCTTCCTTCCTTCCTTCCTTCCT	intron_variant intron_variant	MODIFIER	HG02280.hp2 HG03130.hp2 HG02280.hp2 HG03130.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0004 a0001c0001t0002 a0001c0001t0004	a0001c0001t0002g0024 a0001c0001t0004g0038 a0001c0001t0002g0024 a0001c0001t0004g0038	2	37	0.0541	28	c.238 others(47): Show c.238+23552_238+23579dupTCCTTCCTTCCTTCCTTCCTTCCTTC CT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71162148	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0048 a0001c0001t0004g0048	1	67	0.0149	28	c.238 others(47): Show c.238+29130_238+29131insTCCTTTCTTCCTTCCTTCCTTCCTTC CT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71201239	T T	TTATATAT others(21): Show TTATATATATATATATATATATATATATA	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01433.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0061 a0001c0001t0009g0061	1	53	0.0189	28	c.238 others(47): Show c.238+68200_238+68201insATATATATATATATATATATATATAT AT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71319096	A A	ATCTATCT others(21): Show ATCTATCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG03669.hp1 HG03669.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0034 a0001c0001t0001g0034	1	33	0.0303	28	c.239 others(47): Show c.239-16451_239-16450insATCTTTCTTTCTTTCTTTCTTTCTTT CT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71319096	A A	ATCTTTCT others(21): Show ATCTTTCTTTCTTTCTTTCTTTCTTTCTT	intron_variant intron_variant	MODIFIER	HG01106.hp2 HG03492.hp1 HG01106.hp2 HG03492.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0004 a0001c0001t0001 a0001c0001t0004	a0001c0001t0001g0032 a0001c0001t0004g0028 a0001c0001t0001g0032 a0001c0001t0004g0028	2	34	0.0588	28	c.239 others(47): Show c.239-16452_239-16425dupCTTTCTTTCTTTCTTTCTTTCTTTCT TT	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71321902	C C	CCTTCCTT others(21): Show CCTTCCTTCCTTCCTTCCTTCCTTCCTTT	intron_variant intron_variant	MODIFIER	HG00642.hp1 NA19000.hp1 HG00642.hp1 NA19000.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0011 a0001c0002t0003 a0001c0001t0011 a0001c0002t0003	a0001c0001t0011g0049 a0001c0002t0003g0006 a0001c0001t0011g0049 a0001c0002t0003g0006	2	46	0.0435	28	c.239 others(47): Show c.239-13627_239-13626insTTCCTTTCTTCCTTCCTTCCTTCCTT CC	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	1/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71614893	G G	GAGGGAGG others(21): Show GAGGGAGGGAGGGAGGGAGGGAGGGAGGA	intron_variant intron_variant	MODIFIER	HG04228.hp1 HG04228.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0065 a0001c0001t0009g0065	1	76	0.0132	28	c.108 others(49): Show c.1080+43506_1080+43507insGAGGGAGGGAGGAAGGGAGGGAGG GAGG	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	6/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71616929	T T	TCTTATAA others(21): Show TCTTATAAGAATCATATTAAGAATAAATA	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0010 a0001c0002t0010	a0001c0002t0010g0074 a0001c0002t0010g0074	1	76	0.0132	28	c.108 others(49): Show c.1080+45527_1080+45528insCTTATAAGAATCATATTAAGAATA AATA	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	6/10			chr7	TogoVar
GALNT17_chr7_71127144_71718599	71693305	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02129.hp2 HG02129.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0014 a0001c0003t0014	a0001c0003t0014g0070 a0001c0003t0014g0070	1	26	0.0385	28	c.150 others(49): Show c.1500+16000_1500+16001insTATATATATATATATATATATATA TATA	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT17_chr7_71127144_71718599	71693309	C C	CACATATA others(21): Show CACATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	NA19060.hp2 NA19060.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0015 a0001c0001t0015	a0001c0001t0015g0076 a0001c0001t0015g0076	1	11	0.0909	28	c.150 others(49): Show c.1500+16004_1500+16005insCATATATATATATATATATATATA TATA	GALNT17	ENSG00000185274.13	transcript	ENST00000333538.10	protein_coding	9/10		INFO_REALIGN_3_PRIME	chr7	TogoVar
GALNT18_chr11_11265877_11627005	11290605	T T	TCTCCCTG others(21): Show TCTCCCTGGAATGCCCTTCACTCCTTCCA	intron_variant intron_variant	MODIFIER	NA18978.hp1 NA18978.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0216 a0001c0003t0001g0216	1	258	0.0039	28	c.167 others(47): Show c.1677+2396_1677+2423dupTGGAAGGAGTGAAGGGCATTCCAGGG AG	GALNT18	ENSG00000110328.6	transcript	ENST00000227756.5	protein_coding	10/10			chr11	TogoVar
GALNT1_chr18_35576740_35716834	35672822	T T	TTTATTGA others(21): Show TTTATTGAATGCTTTATTATATACCAGTG	intron_variant intron_variant	MODIFIER	HG03098.hp1 HG03098.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0013 a0001c0001t0013	a0001c0001t0013g0162 a0001c0001t0013g0162	1	308	0.0032	28	c.315 others(45): Show c.315-4764_315-4737dupTGAATGCTTTATTATATACCAGTGTTAT	GALNT1	ENSG00000141429.14	transcript	ENST00000269195.6	protein_coding	3/11		INFO_REALIGN_3_PRIME	chr18	TogoVar
GALNT5_chr2_157252705_157323491	157290112	T T	TATATATA others(21): Show TATATATATATATATATATATACACACAC	intron_variant intron_variant	MODIFIER	NA18906.hp1 NA20129.hp2 NA18906.hp1 NA20129.hp2	a0001 a0004 a0001 a0004	a0001c0002 a0004c0006 a0001c0002 a0004c0006	a0001c0002t0042 a0004c0006t0013 a0001c0002t0042 a0004c0006t0013	a0001c0002t0042g0092 a0004c0006t0013g0181 a0001c0002t0042g0092 a0004c0006t0013g0181	2	16	0.1250	28	c.174 others(47): Show c.1741+3979_1741+3980insTATATATATATATATATATACACACA CA	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT5_chr2_157252705_157323491	157290112	T T	TATATATA others(21): Show TATATATATATATATATATATATACACAC	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG02622.hp2	a0002 a0002	a0002c0005 a0002c0005	a0002c0005t0026 a0002c0005t0026	a0002c0005t0026g0202 a0002c0005t0026g0202	1	15	0.0667	28	c.174 others(47): Show c.1741+3979_1741+3980insTATATATATATATATATATATACACA CA	GALNT5	ENSG00000136542.9	transcript	ENST00000259056.5	protein_coding	3/9		INFO_REALIGN_3_PRIME	chr2	TogoVar
GALNT7_chr4_173163811_173328967	173216706	C C	CATATATA others(21): Show CATATATATATATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp2 HG00639.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0014 a0001c0002t0001g0014	1	227	0.0044	28	c.127 others(47): Show c.127-31252_127-31251insATATATATATATATATATATATATAT AT	GALNT7	ENSG00000109586.12	transcript	ENST00000265000.9	protein_coding	1/11		INFO_REALIGN_3_PRIME	chr4	TogoVar

Search by Variant

Search

Search Results