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	hgvs_p	genename	geneid	featuretype	featureid	transcript_biotype	rank	cdna cdna pos length	cds cds pos length	aa aa pos length	distance	status	chr	external
POTEE_chr2_131204536_131270278	131211540	G G	GTGTGTGT others(8): Show GTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0004 a0004	a0004c0008 a0004c0008	a0004c0008t0007 a0004c0008t0007	a0004c0008t0007g0259 a0004c0008t0007g0259	1	288	0.0035	15	c.-18 others(32): Show c.-189+357_-189+358insTGTGTGTGTGTGTGT		POTEE	ENSG00000188219.16	transcript	ENST00000683005.1	protein_coding	2/17						chr2	TogoVar
POTEI_chr2_130454455_130514328	130509831	G G	GGCGTGCG others(8): Show GGCGTGCGCGTGCGGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0104 a0001c0001t0001g0104	1	125	0.0080	15	c.-59 others(24): Show c.-597_-596insGCCGCACGCGCACGC		POTEI	ENSG00000196834.14	transcript	ENST00000451531.7	protein_coding					504		chr2	TogoVar
POU1F1_chr3_87254404_87281584	87257942	C C	CAATAATA others(8): Show CAATAATAATAATAAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00099.hp2 HG00323.hp1 HG00408.hp2 others(37): Show HG00099.hp2 HG00323.hp1 HG00408.hp2 HG00673.hp2 HG00738.hp2 HG00741.hp2 HG01069.hp1 HG01071.hp1 HG01106.hp2 HG01123.hp2 HG01168.hp2 HG01255.hp1 HG01361.hp2 HG01884.hp1 HG01981.hp2 HG02145.hp1 HG02155.hp1 HG02258.hp2 HG02683.hp1 HG03669.hp2 NA18939.hp1 NA18939.hp2 NA18940.hp1 NA18943.hp1 NA18945.hp2 NA18949.hp2 NA18954.hp1 NA18954.hp2 NA18964.hp1 NA18970.hp2 NA18971.hp2 NA18995.hp1 NA19000.hp2 NA19001.hp1 NA19002.hp1 NA19009.hp2 NA19010.hp1 NA19070.hp1 NA19077.hp1 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0011 a0001c0001t0001 a0001c0001t0002 a0001c0001t0011	a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(16): Show a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0049 a0001c0001t0001g0050 a0001c0001t0001g0135 a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0022 a0001c0001t0002g0038 a0001c0001t0002g0039 a0001c0001t0002g0041 a0001c0001t0002g0086 a0001c0001t0002g0087 a0001c0001t0002g0109 a0001c0001t0002g0110 a0001c0001t0002g0113 a0001c0001t0002g0129 a0001c0001t0011g0052	40	420	0.0952	15	c.19 others(26): Show c.1951_*1952insATTATTATTATTATT		POU1F1	ENSG00000064835.12	transcript	ENST00000350375.7	protein_coding					1461		chr3	TogoVar
POU2AF2_chr11_111240725_111291401	111268477	T T	TTTTTATT others(8): Show TTTTTATTTTATTTTA	intron_variant intron_variant	MODIFIER	NA18989.hp1 NA18989.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0172 a0001c0001t0003g0172	1	380	0.0026	15	c.120 others(34): Show c.120+12445_120+12459dupATTTTATTTTATTTT		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276439	G G	GAAAAAAA others(8): Show GAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG03139.hp2 NA19043.hp1 HG02922.hp1 HG03139.hp2 NA19043.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0241 a0001c0001t0002g0146 a0001c0001t0002g0147 a0001c0001t0001g0241 a0001c0001t0002g0146 a0001c0001t0002g0147	3	380	0.0079	15	c.121 others(32): Show c.121-4958_121-4944dupAAAAAAAAAAAAAAA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAAAAT	intron_variant intron_variant	MODIFIER	HG02976.hp2 NA21309.hp1 HG02976.hp2 NA21309.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0002 a0002c0002t0001 a0002c0002t0002	a0002c0002t0001g0184 a0002c0002t0002g0278 a0002c0002t0001g0184 a0002c0002t0002g0278	2	380	0.0053	15	c.121 others(32): Show c.121-4944_121-4943insAAAAAAAAAAAAATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAAAAA others(8): Show AAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0002 a0002c0002t0002	a0002c0002t0002g0336 a0002c0002t0002g0336	1	380	0.0026	15	c.121 others(32): Show c.121-4944_121-4943insAAAAAAAAAAATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAAAAA others(8): Show AAAAAAAAAAATATAT	intron_variant intron_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0344 a0001c0001t0002g0344	1	380	0.0026	15	c.121 others(32): Show c.121-4944_121-4943insAAAAAAAAATATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAAAAA others(8): Show AAAAAAAAATATATAT	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01070.hp1 HG01071.hp1 others(2): Show HG01069.hp2 HG01070.hp1 HG01071.hp1 NA18522.hp2 NA18961.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0001t0002 a0001c0003t0002 a0001c0001t0001 a0001c0001t0002 a0001c0003t0002	a0001c0001t0001g0004 a0001c0001t0001g0231 a0001c0001t0002g0299 others(1): Show a0001c0001t0001g0004 a0001c0001t0001g0231 a0001c0001t0002g0299 a0001c0003t0002g0290	5	380	0.0132	15	c.121 others(32): Show c.121-4944_121-4943insAAAAAAATATATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAAAAAAT others(8): Show AAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG01074.hp1 NA19003.hp1 HG01074.hp1 NA19003.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0279 a0001c0001t0002g0341 a0001c0001t0002g0279 a0001c0001t0002g0341	2	380	0.0053	15	c.121 others(32): Show c.121-4944_121-4943insAAAAATATATATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111276453	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01175.hp2 HG03688.hp1 NA20129.hp1 others(1): Show HG01175.hp2 HG03688.hp1 NA20129.hp1 NA20752.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0330 a0001c0001t0002g0354 a0001c0001t0002g0355 others(1): Show a0001c0001t0002g0330 a0001c0001t0002g0354 a0001c0001t0002g0355 a0001c0001t0002g0357	4	380	0.0105	15	c.121 others(32): Show c.121-4944_121-4943insATATATATATATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111280055	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0366 a0001c0001t0001g0366	1	380	0.0026	15	c.121 others(32): Show c.121-1343_121-1342insTATATATATATATAT		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4						chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111280057	A A	AAAAATAT others(8): Show AAAAATATATATATAT	intron_variant intron_variant	MODIFIER	HG00738.hp1 HG02523.hp1 HG00738.hp1 HG02523.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0020 a0001c0001t0001g0024	2	380	0.0053	15	c.121 others(32): Show c.121-1340_121-1339insAAATATATATATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111280057	A A	AAATATAT others(8): Show AAATATATATATATAT	intron_variant intron_variant	MODIFIER	HG00621.hp2 HG01891.hp2 HG02293.hp2 others(9): Show HG00621.hp2 HG01891.hp2 HG02293.hp2 HG02602.hp2 HG03239.hp1 HG03492.hp1 HG04204.hp2 NA18612.hp1 NA18949.hp1 NA18992.hp1 NA19009.hp2 NA19085.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0012 a0001c0001t0001g0042 a0001c0001t0001g0046 others(9): Show a0001c0001t0001g0012 a0001c0001t0001g0042 a0001c0001t0001g0046 a0001c0001t0001g0059 a0001c0001t0001g0064 a0001c0001t0001g0067 a0001c0001t0001g0068 a0001c0001t0001g0069 a0001c0001t0001g0249 a0001c0001t0002g0048 a0001c0001t0002g0110 a0001c0001t0002g0137	12	380	0.0316	15	c.121 others(32): Show c.121-1340_121-1339insATATATATATATATA		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4					INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111280057	A A	ATATATAT others(8): Show ATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG03195.hp1 NA18949.hp2 HG03195.hp1 NA18949.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0054 a0001c0001t0001g0367 a0001c0001t0001g0054 a0001c0001t0001g0367	2	380	0.0053	15	c.121 others(32): Show c.121-1341_121-1340insTATATATATATATAT		POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4						chr11	TogoVar
POU2AF3_chr11_111293546_111313735	111303592	G G	GGCAGATT others(8): Show GGCAGATTTTTTAATA	intron_variant intron_variant	MODIFIER	NA18997.hp2 NA18997.hp2	a0007 a0007	a0007c0009 a0007c0009	a0007c0009t0002 a0007c0009t0002	a0007c0009t0002g0092 a0007c0009t0002g0092	1	468	0.0021	15	c.103 others(32): Show c.103-1336_103-1335insGCAGATTTTTTAATA		POU2AF3	ENSG00000214290.9	transcript	ENST00000610738.6	protein_coding	2/4						chr11	TogoVar
POU2F1_chr1_167215886_167432340	167358716	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp2 HG02109.hp1 HG02258.hp2 HG01433.hp2 HG02109.hp1 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0010 a0001c0001t0010	a0001c0001t0010g0091 a0001c0001t0010g0092 a0001c0001t0010g0093 a0001c0001t0010g0091 a0001c0001t0010g0092 a0001c0001t0010g0093	3	292	0.0103	15	c.128 others(32): Show c.128-6744_128-6730dupTTTTTTTTTTTTTTT		POU2F1	ENSG00000143190.23	transcript	ENST00000367866.7	protein_coding	2/15					INFO_REALIGN_3_PRIME	chr1	TogoVar
POU2F1_chr1_167215886_167432340	167429373	T T	TATATATA others(8): Show TATATATATATATATA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19058.hp2 NA19058.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0035 a0001c0001t0002g0035	1	292	0.0034	15	c.13 others(28): Show c.13563_*13564insATATATATATATATA		POU2F1	ENSG00000143190.23	transcript	ENST00000367866.7	protein_coding					2034		chr1	TogoVar
POU2F2_chr19_42081110_42137446	42106830	G G	GAGGAGAA others(8): Show GAGGAGAAGGAGGAGT	intron_variant intron_variant	MODIFIER	HG02976.hp1 HG02976.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0056 a0001c0001t0021g0056	1	176	0.0057	15	c.370 others(32): Show c.370-7010_370-7009insACTCCTCCTTCTCCT		POU2F2	ENSG00000028277.22	transcript	ENST00000692977.1	protein_coding	5/14						chr19	TogoVar
POU2F3_chr11_120235140_120324945	120261197	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	NA18985.hp1 NA18985.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0115 a0001c0001t0001g0115	1	320	0.0031	15	c.98- others(30): Show c.98-8013_98-8012insGTGTGTGTGTGTGTG		POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	2/12						chr11	TogoVar
POU4F2_chr4_146633893_146647474	146639305	T T	TGGCGGCG others(8): Show TGGCGGCGGCGGCGGC	disruptive_inframe_insertion disruptive_inframe_insertion	MODERATE	HG01884.hp1 HG02055.hp1 HG02647.hp1 others(3): Show HG01884.hp1 HG02055.hp1 HG02647.hp1 HG03139.hp1 HG03225.hp1 HG03516.hp2	a0005 a0005	a0005c0006 a0005c0022 a0005c0006 a0005c0022	a0005c0006t0001 a0005c0022t0001 a0005c0006t0001 a0005c0022t0001	a0005c0006t0001g0002 a0005c0022t0001g0002 a0005c0006t0001g0002 a0005c0022t0001g0002	6	414	0.0145	15	c.186 others(22): Show c.186_200dupCGGCGGCGGCGGCGG	p.Gly others(11): Show p.Gly63_Gly67dup	POU4F2	ENSG00000151615.3	transcript	ENST00000281321.3	protein_coding	1/2	449/3144	201/1230	67/409		INFO_REALIGN_3_PRIME	chr4	TogoVar
POU4F3_chr5_146333839_146346728	146335079	A A	AAATAATA others(8): Show AAATAATAATAATAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02129.hp2 NA18983.hp1 NA19079.hp1 others(1): Show HG02129.hp2 NA18983.hp1 NA19079.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0001 a0001c0001t0002g0001	4	352	0.0114	15	c.-40 others(26): Show c.-4034_-4033insAATAATAATAATAAT		POU4F3	ENSG00000091010.6	transcript	ENST00000646991.2	protein_coding					3759		chr5	TogoVar
POU6F2_chr7_38972909_39473601	39005515	T T	TGTGTGTG others(8): Show TGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG03041.hp2 NA19080.hp1 HG03041.hp2 NA19080.hp1	a0001 a0002 a0001 a0002	a0001c0005 a0002c0004 a0001c0005 a0002c0004	a0001c0005t0029 a0002c0004t0002 a0001c0005t0029 a0002c0004t0002	a0001c0005t0029g0098 a0002c0004t0002g0011 a0001c0005t0029g0098 a0002c0004t0002g0011	2	170	0.0118	15	c.105 others(34): Show c.105+27457_105+27458insGTGTGTGTGTGTGTG		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9						chr7	TogoVar
POU6F2_chr7_38972909_39473601	39015980	T T	TGATATAT others(8): Show TGATATATATTATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0138 a0001c0005t0001g0138	1	170	0.0059	15	c.105 others(34): Show c.105+37922_105+37923insGATATATATTATATA		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9						chr7	TogoVar
POU6F2_chr7_38972909_39473601	39015997	T T	TTATATAT others(8): Show TTATATATATTATATA	intron_variant intron_variant	MODIFIER	HG02698.hp1 HG02698.hp1	a0002 a0002	a0002c0004 a0002c0004	a0002c0004t0002 a0002c0004t0002	a0002c0004t0002g0037 a0002c0004t0002g0037	1	170	0.0059	15	c.105 others(34): Show c.105+37939_105+37940insTATATATATTATATA		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	1/9						chr7	TogoVar
POU6F2_chr7_38972909_39473601	39246905	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03195.hp1 HG03195.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0091 a0001c0002t0001g0091	1	170	0.0059	15	c.598 others(34): Show c.598+39294_598+39308dupTTTTTTTTTTTTTTT		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
POU6F2_chr7_38972909_39473601	39331490	G G	GGTTTTGT others(8): Show GGTTTTGTTTTGTTTT	intron_variant intron_variant	MODIFIER	HG02615.hp2 HG02630.hp2 HG02615.hp2 HG02630.hp2	a0001 a0003 a0001 a0003	a0001c0005 a0003c0012 a0001c0005 a0003c0012	a0001c0005t0011 a0003c0012t0020 a0001c0005t0011 a0003c0012t0020	a0001c0005t0011g0060 a0003c0012t0020g0021 a0001c0005t0011g0060 a0003c0012t0020g0021	2	170	0.0118	15	c.599 others(32): Show c.599-8143_599-8129dupTTGTTTTGTTTTGTT		POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	4/9					INFO_REALIGN_3_PRIME	chr7	TogoVar
PPA1_chr10_70197835_70238429	70206865	A A	AGGAGGGG others(8): Show AGGAGGGGAGGGGAGG	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01069.hp2 HG01070.hp2 others(36): Show HG00733.hp1 HG01069.hp2 HG01070.hp2 HG01071.hp1 HG01243.hp1 HG01256.hp1 HG01257.hp1 HG01258.hp1 HG02109.hp1 HG02132.hp1 HG02559.hp1 HG02572.hp2 HG02615.hp2 HG02630.hp2 HG02647.hp2 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02738.hp2 HG02886.hp2 HG02895.hp1 HG02895.hp2 HG02897.hp1 HG02922.hp1 HG02976.hp2 HG03017.hp1 HG03017.hp2 HG03041.hp1 HG03225.hp2 HG03490.hp1 HG03491.hp2 HG03492.hp2 HG03540.hp2 HG03579.hp2 HG03710.hp1 HG03831.hp2 HG03927.hp1 HG04199.hp1 NA19011.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(1): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0001t0006	a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0028 others(32): Show a0001c0001t0001g0010 a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0060 a0001c0001t0001g0116 a0001c0001t0001g0117 a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0155 a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 a0001c0001t0001g0280 a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0001g0283 a0001c0001t0001g0284 a0001c0001t0001g0286 a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 a0001c0001t0001g0294 a0001c0001t0001g0295 a0001c0001t0001g0296 a0001c0001t0001g0297 a0001c0001t0002g0324 a0001c0001t0005g0038 a0001c0001t0005g0039 a0001c0001t0006g0123	39	408	0.0956	15	c.726 others(30): Show c.726-547_726-533dupCCTCCCCTCCCCTCC		PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	8/10						chr10	TogoVar
PPA1_chr10_70197835_70238429	70220623	T T	TATATATT others(8): Show TATATATTATATATAA	intron_variant intron_variant	MODIFIER	HG00408.hp1 HG00544.hp2 HG00408.hp1 HG00544.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0245 a0001c0001t0001g0246	2	408	0.0049	15	c.124 others(32): Show c.124-1807_124-1806insTTATATATAATATAT		PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10						chr10	TogoVar
PPA1_chr10_70197835_70238429	70221055	A A	ATTTTTAT others(8): Show ATTTTTATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp1 HG02717.hp2 HG02486.hp1 HG02717.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0219 a0001c0001t0001g0229 a0001c0001t0001g0219 a0001c0001t0001g0229	2	408	0.0049	15	c.124 others(32): Show c.124-2239_124-2238insATATATATATAAAAA		PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10						chr10	TogoVar
PPA1_chr10_70197835_70238429	70221076	A A	ATATATAT others(8): Show ATATATATATTTTTTT	intron_variant intron_variant	MODIFIER	NA18957.hp1 NA18957.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0093 a0001c0001t0001g0093	1	408	0.0025	15	c.124 others(32): Show c.124-2260_124-2259insAAAAAAATATATATA		PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10						chr10	TogoVar
PPA1_chr10_70197835_70238429	70221076	A A	ATATATAT others(8): Show ATATATATTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02602.hp2 HG02602.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0089 a0001c0001t0001g0089	1	408	0.0025	15	c.124 others(32): Show c.124-2260_124-2259insAAAAAAAAATATATA		PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10						chr10	TogoVar
PPA1_chr10_70197835_70238429	70221076	A A	ATATATTT others(8): Show ATATATTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00673.hp1 NA18989.hp2 NA19011.hp2 others(2): Show HG00673.hp1 NA18989.hp2 NA19011.hp2 NA19081.hp1 NA19090.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0065 others(2): Show a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067	5	408	0.0123	15	c.124 others(32): Show c.124-2260_124-2259insAAAAAAAAAAATATA		PPA1	ENSG00000180817.12	transcript	ENST00000373232.8	protein_coding	2/10						chr10	TogoVar
PPA2_chr4_105364077_105479062	105450601	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18954.hp1 NA19240.hp2 NA18954.hp1 NA19240.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0005 a0002c0002t0002 a0001c0001t0005 a0002c0002t0002	a0001c0001t0005g0174 a0002c0002t0002g0045 a0001c0001t0005g0174 a0002c0002t0002g0045	2	366	0.0055	15	c.268 others(32): Show c.268-1213_268-1199dupAAAAAAAAAAAAAAA		PPA2	ENSG00000138777.20	transcript	ENST00000341695.10	protein_coding	3/11						chr4	TogoVar
PPAN_chr19_10101362_10117012	10113046	G G	GGTGGCAC others(8): Show GGTGGCACTGGGGGGT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp1 HG03942.hp2 HG04199.hp2 others(6): Show HG00597.hp1 HG03942.hp2 HG04199.hp2 NA18612.hp1 NA18948.hp2 NA18975.hp1 NA19081.hp1 NA19090.hp2 NA20905.hp2	a0002 a0002	a0002c0006 a0002c0008 a0002c0006 a0002c0008	a0002c0006t0001 a0002c0006t0017 a0002c0008t0001 a0002c0006t0001 a0002c0006t0017 a0002c0008t0001	a0002c0006t0001g0017 a0002c0006t0001g0033 a0002c0006t0001g0034 others(3): Show a0002c0006t0001g0017 a0002c0006t0001g0033 a0002c0006t0001g0034 a0002c0006t0001g0075 a0002c0006t0017g0017 a0002c0008t0001g0017	9	442	0.0204	15	c.18 others(26): Show c.1881_*1882insGTGGCACTGGGGGGT		PPAN	ENSG00000130810.20	transcript	ENST00000253107.12	protein_coding					1035		chr19	TogoVar
PPARA_chr22_46145526_46248755	46146490	A A	AGAAGAGA others(8): Show AGAAGAGAAGAGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01106.hp2 HG02145.hp2 HG03471.hp1 others(1): Show HG01106.hp2 HG02145.hp2 HG03471.hp1 NA19030.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0029 a0001c0001t0034 others(1): Show a0001c0001t0002 a0001c0001t0029 a0001c0001t0034 a0001c0001t0069	a0001c0001t0002g0191 a0001c0001t0029g0162 a0001c0001t0034g0158 others(1): Show a0001c0001t0002g0191 a0001c0001t0029g0162 a0001c0001t0034g0158 a0001c0001t0069g0161	4	200	0.0200	15	c.-43 others(26): Show c.-4372_-4371insGAAGAGAAGAGAAGG		PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding					4035		chr22	TogoVar
PPARA_chr22_46145526_46248755	46146490	A A	AGAAGAGA others(8): Show AGAAGAGAAGGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01069.hp2 HG01071.hp2 HG02258.hp2 others(2): Show HG01069.hp2 HG01071.hp2 HG02258.hp2 HG03831.hp1 NA19070.hp1	a0001 a0001	a0001c0001 a0001c0005 a0001c0001 a0001c0005	a0001c0001t0023 a0001c0001t0024 a0001c0001t0078 others(1): Show a0001c0001t0023 a0001c0001t0024 a0001c0001t0078 a0001c0005t0011	a0001c0001t0023g0176 a0001c0001t0024g0181 a0001c0001t0078g0196 others(2): Show a0001c0001t0023g0176 a0001c0001t0024g0181 a0001c0001t0078g0196 a0001c0005t0011g0014 a0001c0005t0011g0016	5	200	0.0250	15	c.-43 others(26): Show c.-4372_-4371insGAAGAGAAGGGAAGG		PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding					4035		chr22	TogoVar
PPARA_chr22_46145526_46248755	46146490	A A	AGAAGGGA others(8): Show AGAAGGGAAGGGAAGG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03017.hp2 HG03017.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0183 a0001c0001t0008g0183	1	200	0.0050	15	c.-43 others(26): Show c.-4372_-4371insGAAGGGAAGGGAAGG		PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding					4035		chr22	TogoVar
PPARGC1B_chr5_149725310_149860022	149777784	A A	ACACACAC others(8): Show ACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG03710.hp2 HG03710.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0094 a0001c0001t0001g0094	1	320	0.0031	15	c.79- others(32): Show c.79-42649_79-42648insCACACACACACACAC		PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11						chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149784560	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01433.hp1 HG01928.hp2 HG01978.hp1 others(6): Show HG01433.hp1 HG01928.hp2 HG01978.hp1 HG02148.hp2 HG02293.hp1 HG04184.hp2 NA18943.hp2 NA19000.hp1 NA20300.hp2	a0002 a0003 a0004 a0002 a0003 a0004	a0002c0002 a0003c0003 a0004c0005 a0002c0002 a0003c0003 a0004c0005	a0002c0002t0010 a0003c0003t0004 a0003c0003t0011 others(1): Show a0002c0002t0010 a0003c0003t0004 a0003c0003t0011 a0004c0005t0013	a0002c0002t0010g0204 a0002c0002t0010g0304 a0003c0003t0004g0293 others(6): Show a0002c0002t0010g0204 a0002c0002t0010g0304 a0003c0003t0004g0293 a0003c0003t0004g0295 a0003c0003t0004g0305 a0003c0003t0011g0279 a0003c0003t0011g0302 a0003c0003t0011g0303 a0004c0005t0013g0298	9	320	0.0281	15	c.79- others(32): Show c.79-35864_79-35850dupTTTTTTTTTTTTTTT		PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149799687	G G	GTTTTTTT others(8): Show GTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0005 a0005	a0005c0013 a0005c0013	a0005c0013t0001 a0005c0013t0001	a0005c0013t0001g0317 a0005c0013t0001g0317	1	320	0.0031	15	c.79- others(32): Show c.79-20744_79-20743insTTTTTTTTTTTTTTT		PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	1/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARGC1B_chr5_149725310_149860022	149822860	G G	GGAGCCCA others(8): Show GGAGCCCATAGGACTA	intron_variant intron_variant	MODIFIER	HG02451.hp1 HG02647.hp1 HG02818.hp1 others(2): Show HG02451.hp1 HG02647.hp1 HG02818.hp1 HG03453.hp2 HG03486.hp2	a0008 a0013 a0014 a0008 a0013 a0014	a0008c0016 a0013c0027 a0014c0025 a0008c0016 a0013c0027 a0014c0025	a0008c0016t0026 a0008c0016t0036 a0013c0027t0037 others(1): Show a0008c0016t0026 a0008c0016t0036 a0013c0027t0037 a0014c0025t0031	a0008c0016t0026g0009 a0008c0016t0026g0262 a0008c0016t0036g0122 others(2): Show a0008c0016t0026g0009 a0008c0016t0026g0262 a0008c0016t0036g0122 a0013c0027t0037g0318 a0014c0025t0031g0043	5	320	0.0156	15	c.252 others(32): Show c.252+2259_252+2260insCATAGGACTAGAGCC		PPARGC1B	ENSG00000155846.17	transcript	ENST00000309241.10	protein_coding	2/11					INFO_REALIGN_3_PRIME	chr5	TogoVar
PPARG_chr3_12284070_12439344	12406532	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01071.hp1 HG02257.hp2 HG01071.hp1 HG02257.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0272 a0001c0001t0002g0248 a0001c0001t0001g0272 a0001c0001t0002g0248	2	294	0.0068	15	c.729 others(30): Show c.729+462_729+476dupTTTTTTTTTTTTTTT		PPARG	ENSG00000132170.24	transcript	ENST00000651735.1	protein_coding	6/7					INFO_REALIGN_3_PRIME	chr3	TogoVar
PPBP_chr4_73981439_73993190	73982164	C C	CAAAAAAA others(8): Show CAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	368	0.0027	15	c.51 others(26): Show c.5107_*5108insTTTTTTTTTTTTTTT		PPBP	ENSG00000163736.4	transcript	ENST00000296028.4	protein_coding					4274		chr4	TogoVar
PPCDC_chr15_75018590_75055726	75055400	T T	TCTCAACA others(8): Show TCTCAACAACAACAAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03225.hp2 HG03225.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0007 a0002c0002t0001g0007	1	398	0.0025	15	c.61 others(26): Show c.6165_*6166insCTCAACAACAACAAC		PPCDC	ENSG00000138621.12	transcript	ENST00000342932.8	protein_coding					4675		chr15	TogoVar
PPDPF_chr20_63515765_63527206	63520760	T T	TGCGCACC others(8): Show TGCGCACCCCGCGCGC	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01891.hp1 HG02451.hp1 HG02486.hp1 others(11): Show HG01891.hp1 HG02451.hp1 HG02486.hp1 HG02572.hp2 HG02630.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp2 HG02895.hp1 HG02896.hp1 HG02976.hp2 HG03139.hp1 HG03209.hp1 HG06807.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0001 a0001c0001t0002	a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0001g0001 a0001c0001t0002g0001	14	394	0.0355	15	c.-16 others(24): Show c.-160_-159insGCGCACCCCGCGCGC		PPDPF	ENSG00000125534.10	transcript	ENST00000370179.8	protein_coding					4		chr20	TogoVar
PPEF1_chrX_18702645_18832917	18743446	C C	CTTTTTTT others(8): Show CTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02572.hp1 HG02572.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0080 a0001c0008t0001g0080	1	224	0.0045	15	c.236 others(32): Show c.236-6339_236-6325dupTTTTTTTTTTTTTTT		PPEF1	ENSG00000086717.19	transcript	ENST00000470157.2	protein_coding	3/15					INFO_REALIGN_3_PRIME	chrX	TogoVar
PPEF2_chr4_75854867_75907452	75856882	A A	ATATATAT others(8): Show ATATATATATATATTT	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19056.hp1 NA19056.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0127 a0001c0001t0001g0127	1	270	0.0037	15	c.37 others(26): Show c.3784_*3785insAAATATATATATATA		PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding					2984		chr4	TogoVar
PPEF2_chr4_75854867_75907452	75856882	A A	ATATATAT others(8): Show ATATATATATATTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00423.hp1 HG00423.hp2 HG03490.hp2 others(2): Show HG00423.hp1 HG00423.hp2 HG03490.hp2 HG03492.hp1 NA18986.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0152 others(2): Show a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0152 a0001c0001t0001g0200 a0001c0001t0001g0201	5	270	0.0185	15	c.37 others(26): Show c.3784_*3785insAAAAATATATATATA		PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding					2984		chr4	TogoVar
PPEF2_chr4_75854867_75907452	75856882	A A	ATATATAT others(8): Show ATATATATATTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02071.hp2 NA18971.hp1 HG02071.hp2 NA18971.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0099 a0001c0001t0001g0196 a0001c0001t0001g0099 a0001c0001t0001g0196	2	270	0.0074	15	c.37 others(26): Show c.3784_*3785insAAAAAAATATATATA		PPEF2	ENSG00000156194.19	transcript	ENST00000286719.12	protein_coding					2984		chr4	TogoVar

Search by Variant

Search

Search Results