Joint Open Genome and Omics Platform (JoGo)

Search by Variant

Regionname

ALDH2_chr12_111761933_111822532 / BRCA1_chr17_43039295_43130364 etc.

Chr

Snpeff genename

Sampleids

Snpeff haplotype class

Snpeff annotation impact

Snpeff annotation impact detail

Hapid

Samplehapid

No_hapid

No_samplehapid

Start

End

Minac

Maxac

Minlen

Maxlen

Sort By

Order by

regionname	pos	ref	alt	annotation	impact	samples	ahapids	achapids	acthapids	actghapids	ac	an	af	len	hgvs_c	genename	geneid	featuretype	featureid	transcript_biotype	rank	distance	status	chr	external
PLEKHG1_chr6_150594885_150848665	150763024	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01167.hp2 HG02886.hp1 NA18977.hp2 others(1): Show HG01167.hp2 HG02886.hp1 NA18977.hp2 NA18993.hp1	a0001 a0003 a0007 a0001 a0003 a0007	a0001c0006 a0003c0011 a0007c0027 a0001c0006 a0003c0011 a0007c0027	a0001c0006t0032 a0003c0011t0002 a0007c0027t0013 a0001c0006t0032 a0003c0011t0002 a0007c0027t0013	a0001c0006t0032g0252 a0003c0011t0002g0045 a0003c0011t0002g0053 others(1): Show a0001c0006t0032g0252 a0003c0011t0002g0045 a0003c0011t0002g0053 a0007c0027t0013g0229	4	272	0.0147	18	c.412 others(35): Show c.412-5611_412-5594dupTTTTTTTTTTTTTTTTTT	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	3/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150804175	A A	ATATATAT others(11): Show ATATATATATATATATATT	intron_variant intron_variant	MODIFIER	HG02109.hp1 HG02109.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0020 a0001c0001t0020	a0001c0001t0020g0136 a0001c0001t0020g0136	1	272	0.0037	18	c.781 others(33): Show c.781-434_781-433insATATATATATATATATTT	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	7/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG1_chr6_150594885_150848665	150844889	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01070.hp2 HG01106.hp2 HG01175.hp2 others(4): Show HG01070.hp2 HG01106.hp2 HG01175.hp2 HG02922.hp2 HG02965.hp2 HG03540.hp2 NA19240.hp1	a0001 a0006 a0001 a0006	a0001c0004 a0001c0005 a0001c0006 others(4): Show a0001c0004 a0001c0005 a0001c0006 a0001c0007 a0001c0047 a0001c0052 a0006c0024	a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 others(4): Show a0001c0004t0001 a0001c0005t0001 a0001c0006t0001 a0001c0007t0003 a0001c0047t0003 a0001c0052t0001 a0006c0024t0009	a0001c0004t0001g0207 a0001c0005t0001g0237 a0001c0006t0001g0001 others(4): Show a0001c0004t0001g0207 a0001c0005t0001g0237 a0001c0006t0001g0001 a0001c0007t0003g0130 a0001c0047t0003g0102 a0001c0052t0001g0190 a0006c0024t0009g0158	7	272	0.0257	18	c.39 others(29): Show c.3993_*3994insTTTTTTTTTTTTTTTTTT	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding		1225		chr6	TogoVar
PLEKHG3_chr14_64699424_64755249	64744771	A A	ATTTTTTT others(11): Show ATTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp1 HG02572.hp1 HG02647.hp2 others(3): Show HG01192.hp1 HG02572.hp1 HG02647.hp2 HG02886.hp2 HG03195.hp1 HG06807.hp2	a0002 a0007 a0002 a0007	a0002c0004 a0007c0012 a0002c0004 a0007c0012	a0002c0004t0017 a0002c0004t0028 a0007c0012t0057 a0002c0004t0017 a0002c0004t0028 a0007c0012t0057	a0002c0004t0017g0213 a0002c0004t0017g0215 a0002c0004t0017g0224 others(3): Show a0002c0004t0017g0213 a0002c0004t0017g0215 a0002c0004t0017g0224 a0002c0004t0028g0017 a0002c0004t0028g0018 a0007c0012t0057g0031	6	248	0.0242	18	c.10 others(29): Show c.1071_*1088dupTTTTTTTTTTTTTTTTTT	PLEKHG3	ENSG00000126822.18	transcript	ENST00000247226.13	protein_coding	17/17	1089	INFO_REALIGN_3_PRIME	chr14	TogoVar
PLEKHG3_chr14_64699424_64755249	64751927	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02630.hp2 HG02647.hp1 HG02818.hp1 others(2): Show HG02630.hp2 HG02647.hp1 HG02818.hp1 HG04115.hp1 NA18906.hp1	a0001 a0001	a0001c0003 a0001c0006 a0001c0003 a0001c0006	a0001c0003t0005 a0001c0006t0011 a0001c0006t0055 a0001c0003t0005 a0001c0006t0011 a0001c0006t0055	a0001c0003t0005g0051 a0001c0006t0011g0068 a0001c0006t0011g0069 others(2): Show a0001c0003t0005g0051 a0001c0006t0011g0068 a0001c0006t0011g0069 a0001c0006t0011g0070 a0001c0006t0055g0176	5	248	0.0202	18	c.82 others(29): Show c.8224_*8225insAAAAAAAAAAAAAAAAAA	PLEKHG3	ENSG00000126822.18	transcript	ENST00000247226.13	protein_coding		1679		chr14	TogoVar
PLEKHG4B_chr5_87168_194966	127340	T T	TTTATTAT others(11): Show TTTATTATTATTATTATTA	intron_variant intron_variant	MODIFIER	HG02622.hp2 HG03225.hp1 HG02622.hp2 HG03225.hp1	a0017 a0036 a0017 a0036	a0017c0030 a0036c0075 a0017c0030 a0036c0075	a0017c0030t0039 a0036c0075t0061 a0017c0030t0039 a0036c0075t0061	a0017c0030t0039g0140 a0036c0075t0061g0178 a0017c0030t0039g0140 a0036c0075t0061g0178	2	210	0.0095	18	c.244 others(37): Show c.244-12120_244-12103dupTATTATTATTATTATTAT	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	130061	A A	AAGAGAGA others(11): Show AAGAGAGAGAGAGAGAGAG	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0035 a0035	a0035c0060 a0035c0060	a0035c0060t0020 a0035c0060t0020	a0035c0060t0020g0188 a0035c0060t0020g0188	1	210	0.0048	18	c.244 others(35): Show c.244-9414_244-9413insAGAGAGAGAGAGAGAGAG	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	133941	C C	CACACACA others(11): Show CACACACACACACACATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02809.hp1 NA18906.hp1 HG02486.hp2 HG02809.hp1 NA18906.hp1	a0014 a0038 a0014 a0038	a0014c0027 a0014c0066 a0038c0080 a0014c0027 a0014c0066 a0038c0080	a0014c0027t0049 a0014c0066t0051 a0038c0080t0043 a0014c0027t0049 a0014c0066t0051 a0038c0080t0043	a0014c0027t0049g0171 a0014c0066t0051g0170 a0038c0080t0043g0177 a0014c0027t0049g0171 a0014c0066t0051g0170 a0038c0080t0043g0177	3	210	0.0143	18	c.244 others(35): Show c.244-5541_244-5540insCACACACACACACATATA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG4B_chr5_87168_194966	135187	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02717.hp2 HG02818.hp2 HG02486.hp2 HG02717.hp2 HG02818.hp2	a0015 a0021 a0038 a0015 a0021 a0038	a0015c0077 a0021c0026 a0038c0080 a0015c0077 a0021c0026 a0038c0080	a0015c0077t0053 a0021c0026t0060 a0038c0080t0043 a0015c0077t0053 a0021c0026t0060 a0038c0080t0043	a0015c0077t0053g0181 a0021c0026t0060g0169 a0038c0080t0043g0177 a0015c0077t0053g0181 a0021c0026t0060g0169 a0038c0080t0043g0177	3	210	0.0143	18	c.244 others(35): Show c.244-4291_244-4274dupAAAAAAAAAAAAAAAAAA	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	2/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHG7_chr12_92697989_92777455	92761686	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAA	intron_variant intron_variant	MODIFIER	HG02818.hp2 HG02818.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0005 a0002c0002t0005	a0002c0002t0005g0175 a0002c0002t0005g0175	1	252	0.0040	18	c.163 others(33): Show c.1637-66_1637-65insAAAGAAAGAAAGAAAGAA	PLEKHG7	ENSG00000187510.11	transcript	ENST00000344636.6	protein_coding	13/16			chr12	TogoVar
PLEKHH2_chr2_43632260_43772987	43636340	A A	AGATGATG others(11): Show AGATGATGATGATGATGAT	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0023 a0023	a0023c0031 a0023c0031	a0023c0031t0016 a0023c0031t0016	a0023c0031t0016g0090 a0023c0031t0016g0090	1	256	0.0039	18	c.-10 others(29): Show c.-1043_-1042insGATGATGATGATGATGAT	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		919		chr2	TogoVar
PLEKHH2_chr2_43632260_43772987	43636542	G G	GTATATAT others(11): Show GTATATATATATATATATA	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19043.hp2 NA19043.hp2	a0023 a0023	a0023c0031 a0023c0031	a0023c0031t0016 a0023c0031t0016	a0023c0031t0016g0090 a0023c0031t0016g0090	1	256	0.0039	18	c.-84 others(27): Show c.-841_-840insTATATATATATATATATA	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		717		chr2	TogoVar
PLEKHH2_chr2_43632260_43772987	43636568	A A	ATATATAT others(11): Show ATATATATATTTTTTTTTT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02622.hp1 HG02622.hp1	a0003 a0003	a0003c0004 a0003c0004	a0003c0004t0002 a0003c0004t0002	a0003c0004t0002g0100 a0003c0004t0002g0100	1	256	0.0039	18	c.-81 others(27): Show c.-815_-814insTATATATATTTTTTTTTT	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding		691		chr2	TogoVar
PLEKHH2_chr2_43632260_43772987	43678759	G G	GAGGTGGA others(11): Show GAGGTGGAGGTGGAGGTGC	intron_variant intron_variant	MODIFIER	HG01074.hp1 HG01099.hp1 HG02145.hp1 others(1): Show HG01074.hp1 HG01099.hp1 HG02145.hp1 HG02970.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0007 a0002c0006 a0003c0004 a0001c0007 a0002c0006 a0003c0004	a0001c0007t0001 a0002c0006t0002 a0003c0004t0002 a0001c0007t0001 a0002c0006t0002 a0003c0004t0002	a0001c0007t0001g0101 a0002c0006t0002g0096 a0003c0004t0002g0097 others(1): Show a0001c0007t0001g0101 a0002c0006t0002g0096 a0003c0004t0002g0097 a0003c0004t0002g0098	4	256	0.0156	18	c.124 others(31): Show c.124-88_124-87insGCAGGTGGAGGTGGAGGT	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding	2/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLEKHH2_chr2_43632260_43772987	43713099	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02257.hp2 HG02280.hp2 HG02451.hp1 others(17): Show HG02257.hp2 HG02280.hp2 HG02451.hp1 HG02572.hp2 HG02622.hp2 HG02630.hp1 HG02647.hp2 HG02818.hp1 HG02895.hp1 HG02897.hp2 HG02970.hp1 HG02976.hp1 HG03130.hp1 HG03139.hp1 HG03225.hp2 HG03471.hp1 HG03540.hp1 HG03579.hp2 HG06807.hp2 NA19030.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0012 a0015	a0001c0002 a0001c0003 a0001c0009 others(10): Show a0001c0002 a0001c0003 a0001c0009 a0002c0006 a0002c0011 a0002c0020 a0002c0040 a0003c0004 a0003c0013 a0003c0044 a0012c0053 a0012c0054 a0015c0028	a0001c0002t0002 a0001c0003t0002 a0001c0009t0002 others(10): Show a0001c0002t0002 a0001c0003t0002 a0001c0009t0002 a0002c0006t0002 a0002c0011t0002 a0002c0020t0002 a0002c0040t0002 a0003c0004t0002 a0003c0013t0007 a0003c0044t0007 a0012c0053t0002 a0012c0054t0002 a0015c0028t0003	a0001c0002t0002g0240 a0001c0003t0002g0122 a0001c0009t0002g0123 others(17): Show a0001c0002t0002g0240 a0001c0003t0002g0122 a0001c0009t0002g0123 a0001c0009t0002g0124 a0001c0009t0002g0126 a0001c0009t0002g0169 a0002c0006t0002g0096 a0002c0006t0002g0182 a0002c0011t0002g0127 a0002c0020t0002g0113 a0002c0020t0002g0129 a0002c0040t0002g0081 a0003c0004t0002g0141 a0003c0013t0007g0131 a0003c0013t0007g0133 a0003c0013t0007g0134 a0003c0044t0007g0185 a0012c0053t0002g0121 a0012c0054t0002g0166 a0015c0028t0003g0212	20	256	0.0781	18	c.246 others(35): Show c.2460+717_2460+734dupACACACACACACACACAC	PLEKHH2	ENSG00000152527.14	transcript	ENST00000282406.9	protein_coding	15/29		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	207841478	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02559.hp2 HG02559.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0033 a0001c0001t0033	a0001c0001t0033g0016 a0001c0001t0033g0016	1	200	0.0050	18	c.210 others(39): Show c.2109-12983_2109-12982insATATATATATATATATAT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	7/7			chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	207841480	A A	AATATATA others(11): Show AATATATATATATATATAT	intron_variant intron_variant	MODIFIER	HG01891.hp1 HG02647.hp1 HG02895.hp1 others(1): Show HG01891.hp1 HG02647.hp1 HG02895.hp1 NA18941.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0003 a0001c0001 a0001c0002 a0001c0003	a0001c0001t0001 a0001c0001t0044 a0001c0002t0059 others(1): Show a0001c0001t0001 a0001c0001t0044 a0001c0002t0059 a0001c0003t0012	a0001c0001t0001g0080 a0001c0001t0044g0116 a0001c0002t0059g0200 others(1): Show a0001c0001t0001g0080 a0001c0001t0044g0116 a0001c0002t0059g0200 a0001c0003t0012g0090	4	200	0.0200	18	c.210 others(39): Show c.2109-13002_2109-12985dupATATATATATATATATAT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	7/7			chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	207858174	G G	GTGTGTGT others(11): Show GTGTGTGTGTGTGTATATA	intron_variant intron_variant	MODIFIER	NA19240.hp2 NA19240.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0119 a0001c0001t0003g0119	1	200	0.0050	18	c.210 others(37): Show c.2108+2930_2108+2931insTATATACACACACACACA	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	7/7			chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	207860151	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	intron_variant intron_variant	MODIFIER	HG01358.hp1 HG01928.hp2 NA18962.hp1 HG01358.hp1 HG01928.hp2 NA18962.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0004 a0001c0001 a0001c0003 a0001c0004	a0001c0001t0001 a0001c0003t0002 a0001c0004t0003 a0001c0001t0001 a0001c0003t0002 a0001c0004t0003	a0001c0001t0001g0033 a0001c0003t0002g0072 a0001c0004t0003g0165 a0001c0001t0001g0033 a0001c0003t0002g0072 a0001c0004t0003g0165	3	200	0.0150	18	c.210 others(35): Show c.2108+936_2108+953dupCACACACACACACACACA	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	7/7			chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	207865801	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAATAT	intron_variant intron_variant	MODIFIER	HG00099.hp2 HG00099.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0012 a0001c0001t0003g0012	1	200	0.0050	18	c.195 others(37): Show c.1951-4540_1951-4539insATATTTTTTTTTTTTTTT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	6/7			chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	207865801	A A	AAAAAAAA others(11): Show AAAAAAAAAATATATATAT	intron_variant intron_variant	MODIFIER	HG02486.hp2 HG02486.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0193 a0001c0002t0006g0193	1	200	0.0050	18	c.195 others(37): Show c.1951-4540_1951-4539insATATATATATTTTTTTTT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	6/7			chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	207880762	C C	CAAAAAAA others(11): Show CAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01168.hp1 HG02071.hp1 HG03130.hp2 others(2): Show HG01168.hp1 HG02071.hp1 HG03130.hp2 HG03239.hp2 NA18969.hp2	a0001 a0001	a0001c0001 a0001c0009 a0001c0001 a0001c0009	a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 others(2): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0015 a0001c0001t0047 a0001c0009t0031	a0001c0001t0001g0061 a0001c0001t0003g0031 a0001c0001t0015g0004 others(2): Show a0001c0001t0001g0061 a0001c0001t0003g0031 a0001c0001t0015g0004 a0001c0001t0047g0059 a0001c0009t0031g0156	5	200	0.0250	18	c.195 others(39): Show c.1951-19518_1951-19501dupTTTTTTTTTTTTTTTTTT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	6/7			chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	207889434	A A	AACACACA others(11): Show AACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG02135.hp2 HG02135.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0030 a0001c0001t0003g0030	1	200	0.0050	18	c.195 others(39): Show c.1950+19062_1950+19079dupGTGTGTGTGTGTGTGTGT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	6/7			chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	207923855	G G	GCACACAC others(11): Show GCACACACACACACACACA	intron_variant intron_variant	MODIFIER	NA19030.hp1 NA19030.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0053 a0001c0008t0053	a0001c0008t0053g0173 a0001c0008t0053g0173	1	200	0.0050	18	c.188 others(37): Show c.1886+7053_1886+7070dupTGTGTGTGTGTGTGTGTG	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	5/7			chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	207923880	C C	CACACACA others(11): Show CACACACACATATATATAT	intron_variant intron_variant	MODIFIER	HG00438.hp2 HG00642.hp1 HG00438.hp2 HG00642.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0001 a0001c0002t0001 a0001c0001t0001 a0001c0002t0001	a0001c0001t0001g0070 a0001c0002t0001g0141 a0001c0001t0001g0070 a0001c0002t0001g0141	2	200	0.0100	18	c.188 others(37): Show c.1886+7045_1886+7046insATATATATATGTGTGTGT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	5/7			chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	207923880	C C	CACACACA others(11): Show CACACACATATATATATAT	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG04115.hp1 HG00639.hp1 HG04115.hp1	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0049 a0001c0002t0041 a0001c0001t0049 a0001c0002t0041	a0001c0001t0049g0075 a0001c0002t0041g0164 a0001c0001t0049g0075 a0001c0002t0041g0164	2	200	0.0100	18	c.188 others(37): Show c.1886+7045_1886+7046insATATATATATATGTGTGT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	5/7			chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	207923880	C C	CACACATA others(11): Show CACACATATATATATATAT	intron_variant intron_variant	MODIFIER	HG02647.hp1 HG02647.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0044 a0001c0001t0044	a0001c0001t0044g0116 a0001c0001t0044g0116	1	200	0.0050	18	c.188 others(37): Show c.1886+7045_1886+7046insATATATATATATATGTGT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	5/7			chr2	TogoVar
PLEKHM3_chr2_207816288_208030527	208016670	T T	TACACACA others(11): Show TACACACACACACACACAC	intron_variant intron_variant	MODIFIER	HG01243.hp1 HG01496.hp2 HG01891.hp1 others(6): Show HG01243.hp1 HG01496.hp2 HG01891.hp1 HG01928.hp2 HG01952.hp1 HG02257.hp1 HG03139.hp1 HG04204.hp1 NA19240.hp2	a0001 a0003 a0001 a0003	a0001c0001 a0001c0003 a0003c0014 a0001c0001 a0001c0003 a0003c0014	a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 others(4): Show a0001c0001t0001 a0001c0001t0003 a0001c0003t0001 a0001c0003t0002 a0001c0003t0003 a0001c0003t0012 a0003c0014t0043	a0001c0001t0001g0074 a0001c0001t0003g0119 a0001c0003t0001g0091 others(6): Show a0001c0001t0001g0074 a0001c0001t0003g0119 a0001c0003t0001g0091 a0001c0003t0002g0072 a0001c0003t0002g0081 a0001c0003t0003g0073 a0001c0003t0012g0090 a0001c0003t0012g0176 a0003c0014t0043g0084	9	200	0.0450	18	c.-31 others(37): Show c.-319+8701_-319+8718dupGTGTGTGTGTGTGTGTGT	PLEKHM3	ENSG00000178385.15	transcript	ENST00000427836.8	protein_coding	1/7			chr2	TogoVar
PLEKHO1_chr1_150144916_150165065	150158785	C C	CAGTCCCC others(11): Show CAGTCCCCATCGAATCAGA	intron_variant intron_variant	MODIFIER	HG03491.hp1 HG03491.hp1	a0006 a0006	a0006c0010 a0006c0010	a0006c0010t0001 a0006c0010t0001	a0006c0010t0001g0077 a0006c0010t0001g0077	1	426	0.0024	18	c.526 others(31): Show c.526-32_526-31insTCCCCATCGAATCAGAAG	PLEKHO1	ENSG00000023902.14	transcript	ENST00000369124.5	protein_coding	5/5		INFO_REALIGN_3_PRIME	chr1	TogoVar
PLEKHO2_chr15_64836915_64873002	64871388	A A	AATATATA others(11): Show AATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00609.hp1 HG01070.hp2 HG01081.hp1 others(18): Show HG00609.hp1 HG01070.hp2 HG01081.hp1 HG01346.hp2 HG01361.hp2 HG01515.hp2 HG01934.hp1 HG01934.hp2 HG01975.hp2 HG02300.hp1 HG02523.hp2 HG02738.hp2 HG03041.hp2 HG03139.hp1 HG03654.hp2 NA18944.hp2 NA18950.hp1 NA18974.hp1 NA18983.hp2 NA19010.hp1 NA20752.hp1	a0001 a0002 a0004 others(1): Show a0001 a0002 a0004 a0008	a0001c0001 a0001c0013 a0002c0002 others(2): Show a0001c0001 a0001c0013 a0002c0002 a0004c0007 a0008c0014	a0001c0001t0002 a0001c0013t0002 a0002c0002t0001 others(2): Show a0001c0001t0002 a0001c0013t0002 a0002c0002t0001 a0004c0007t0002 a0008c0014t0002	a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0034 others(11): Show a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0034 a0001c0001t0002g0124 a0001c0001t0002g0126 a0001c0001t0002g0131 a0001c0001t0002g0140 a0001c0001t0002g0144 a0001c0001t0002g0151 a0001c0001t0002g0152 a0001c0013t0002g0005 a0002c0002t0001g0107 a0004c0007t0002g0001 a0008c0014t0002g0142	21	322	0.0652	18	c.55 others(29): Show c.5500_*5501insATATATATATATATATAT	PLEKHO2	ENSG00000241839.10	transcript	ENST00000323544.5	protein_coding		3387		chr15	TogoVar
PLET1_chr11_112243153_112265860	112245791	T T	TCACACAC others(11): Show TCACACACACACACACACA	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19009.hp2 NA19076.hp1 NA19009.hp2 NA19076.hp1	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0008 a0002c0002t0001g0082 a0002c0002t0001g0008 a0002c0002t0001g0082	2	368	0.0054	18	c.29 others(29): Show c.2990_*3007dupTGTGTGTGTGTGTGTGTG	PLET1	ENSG00000188771.5	transcript	ENST00000338832.4	protein_coding		2361		chr11	TogoVar
PLET1_chr11_112243153_112265860	112254190	G G	GGTGTGTG others(11): Show GGTGTGTGTGTGTGTGTGT	intron_variant intron_variant	MODIFIER	HG03098.hp2 HG03098.hp2	a0002 a0002	a0002c0002 a0002c0002	a0002c0002t0001 a0002c0002t0001	a0002c0002t0001g0055 a0002c0002t0001g0055	1	368	0.0027	18	c.386 others(35): Show c.386+1180_386+1197dupACACACACACACACACAC	PLET1	ENSG00000188771.5	transcript	ENST00000338832.4	protein_coding	2/3			chr11	TogoVar
PLET1_chr11_112243153_112265860	112261447	A A	ATGTGTGT others(11): Show ATGTGTGTGTGTGTGTGTG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19068.hp2 NA19068.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0097 a0001c0001t0001g0097	1	368	0.0027	18	c.-85 others(27): Show c.-859_-858insCACACACACACACACACA	PLET1	ENSG00000188771.5	transcript	ENST00000338832.4	protein_coding		588		chr11	TogoVar
PLGRKT_chr9_5352971_5442925	5371986	C C	CTTTTTTT others(11): Show CTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0040 a0001c0001t0001g0040	1	414	0.0024	18	c.82- others(35): Show c.82-10099_82-10098insAAAAAAAAAAAAAAAAAA	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5			chr9	TogoVar
PLGRKT_chr9_5352971_5442925	5424691	T T	TATATATA others(11): Show TATATATATATATATACAC	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG03139.hp1 HG02723.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0331 a0001c0001t0001g0338 a0001c0001t0001g0331 a0001c0001t0001g0338	2	414	0.0048	18	c.81+ others(33): Show c.81+7205_81+7206insGTGTATATATATATATAT	PLGRKT	ENSG00000107020.10	transcript	ENST00000223864.7	protein_coding	3/5			chr9	TogoVar
PLIN1_chr15_89659367_89684367	89659451	G G	GAGAGAAA others(11): Show GAGAGAAAGAAAGAAAGAA	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp1 HG03579.hp1 NA18522.hp2 HG02809.hp1 HG03579.hp1 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0004 a0001c0001 a0001c0004	a0001c0001t0007 a0001c0004t0007 a0001c0001t0007 a0001c0004t0007	a0001c0001t0007g0196 a0001c0004t0007g0214 a0001c0004t0007g0215 a0001c0001t0007g0196 a0001c0004t0007g0214 a0001c0004t0007g0215	3	460	0.0065	18	c.61 others(29): Show c.6131_*6132insTTCTTTCTTTCTTTCTCT	PLIN1	ENSG00000166819.12	transcript	ENST00000300055.10	protein_coding		4915		chr15	TogoVar
PLIN1_chr15_89659367_89684367	89659455	G G	GAAAGAAA others(11): Show GAAAGAAAGAAAGAAAGAC	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02896.hp1 HG02897.hp1 HG02922.hp2 HG02896.hp1 HG02897.hp1 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0008 a0001c0001t0008	a0001c0001t0008g0066 a0001c0001t0008g0308 a0001c0001t0008g0066 a0001c0001t0008g0308	3	460	0.0065	18	c.61 others(29): Show c.6127_*6128insGTCTTTCTTTCTTTCTTT	PLIN1	ENSG00000166819.12	transcript	ENST00000300055.10	protein_coding		4911		chr15	TogoVar
PLIN1_chr15_89659367_89684367	89664312	C C	CATATATA others(11): Show CATATATATATATATATAT	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01261.hp2 HG02572.hp2 HG02735.hp2 others(13): Show HG01261.hp2 HG02572.hp2 HG02735.hp2 HG03688.hp1 NA18946.hp2 NA18950.hp1 NA18952.hp1 NA18964.hp1 NA18977.hp2 NA18984.hp1 NA19003.hp2 NA19009.hp2 NA19043.hp2 NA19066.hp2 NA19078.hp2 NA19079.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0001c0004 a0002c0003 a0001c0001 a0001c0004 a0002c0003	a0001c0001t0001 a0001c0004t0001 a0002c0003t0001 a0001c0001t0001 a0001c0004t0001 a0002c0003t0001	a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0100 others(7): Show a0001c0001t0001g0019 a0001c0001t0001g0031 a0001c0001t0001g0100 a0001c0001t0001g0124 a0001c0001t0001g0171 a0001c0004t0001g0015 a0001c0004t0001g0042 a0001c0004t0001g0136 a0002c0003t0001g0001 a0002c0003t0001g0030	16	460	0.0348	18	c.12 others(29): Show c.1270_*1271insATATATATATATATATAT	PLIN1	ENSG00000166819.12	transcript	ENST00000300055.10	protein_coding		54		chr15	TogoVar
PLIN2_chr9_19110761_19132492	19127771	C C	CCTGCCTG others(11): Show CCTGCCTGGAGTCGGGGCG	upstream_gene_variant upstream_gene_variant	MODIFIER	NA19080.hp2 NA19080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0069 a0001c0001t0001g0069	1	448	0.0022	18	c.-39 others(27): Show c.-393_-376dupCGCCCCGACTCCAGGCAG	PLIN2	ENSG00000147872.10	transcript	ENST00000276914.7	protein_coding		280		chr9	TogoVar
PLIN3_chr19_4833341_4872667	4836742	C C	CTGTGTGT others(11): Show CTGTGTGTGTGTGTGTGTG	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02615.hp1 NA19043.hp2 HG02615.hp1 NA19043.hp2	a0002 a0003 a0002 a0003	a0002c0001 a0003c0004 a0002c0001 a0003c0004	a0002c0001t0004 a0003c0004t0001 a0002c0001t0004 a0003c0004t0001	a0002c0001t0004g0383 a0003c0004t0001g0174 a0002c0001t0004g0383 a0003c0004t0001g0174	2	446	0.0045	18	c.24 others(29): Show c.2449_*2450insCACACACACACACACACA	PLIN3	ENSG00000105355.9	transcript	ENST00000221957.9	protein_coding		1598		chr19	TogoVar
PLIN5_chr19_4517531_4540224	4532577	G G	GACCTCAG others(11): Show GACCTCAGGTGATCCACCC	intron_variant intron_variant	MODIFIER	HG02080.hp2 HG02080.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0214 a0001c0001t0001g0214	1	412	0.0024	18	c.61- others(31): Show c.61-773_61-756dupGGGTGGATCACCTGAGGT	PLIN5	ENSG00000214456.8	transcript	ENST00000381848.7	protein_coding	2/7			chr19	TogoVar
PLK3_chr1_44795377_44810990	44795407	A A	AAAATATA others(11): Show AAAATATATATAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01981.hp1 HG01981.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	384	0.0026	18	c.-50 others(29): Show c.-5057_-5056insAAATATATATAAATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4969		chr1	TogoVar
PLK3_chr1_44795377_44810990	44795574	A A	AAAATATA others(11): Show AAAATATATATAAATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01109.hp1 HG01952.hp2 HG01109.hp1 HG01952.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0001 a0001c0001t0001g0003	2	384	0.0052	18	c.-48 others(29): Show c.-4890_-4889insAAATATATATAAATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4802		chr1	TogoVar
PLK3_chr1_44795377_44810990	44795604	A A	AATATATA others(11): Show AATATATAAATATATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00609.hp2 HG02015.hp2 others(15): Show HG00408.hp1 HG00609.hp2 HG02015.hp2 HG02165.hp1 HG02300.hp2 HG02523.hp2 NA18747.hp2 NA18956.hp2 NA18964.hp1 NA18966.hp1 NA18968.hp1 NA18975.hp1 NA18977.hp2 NA18983.hp2 NA18984.hp2 NA18999.hp2 NA19074.hp1 NA19085.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0007 a0001c0002t0001g0002 a0001c0002t0001g0007	18	384	0.0469	18	c.-48 others(29): Show c.-4860_-4859insATATATAAATATATAAAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4772		chr1	TogoVar
PLK3_chr1_44795377_44810990	44795642	T T	TATATATA others(11): Show TATATATAAATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG00408.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	384	0.0026	18	c.-48 others(29): Show c.-4822_-4821insATATATAAATATATATAA	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4734		chr1	TogoVar
PLK3_chr1_44795377_44810990	44795678	T T	TATATATA others(11): Show TATATATAAATATATATAA	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02258.hp2 HG02258.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0015 a0001c0001t0001g0015	1	384	0.0026	18	c.-47 others(29): Show c.-4786_-4785insATATATAAATATATATAA	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4698		chr1	TogoVar
PLK3_chr1_44795377_44810990	44795834	A A	AATATGTA others(11): Show AATATGTATAAATATAAAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00099.hp2 HG00544.hp1 HG00558.hp2 others(30): Show HG00099.hp2 HG00544.hp1 HG00558.hp2 HG00735.hp2 HG01081.hp1 HG01346.hp1 HG01358.hp2 HG01516.hp1 HG01517.hp2 HG01993.hp1 HG02074.hp1 HG02083.hp2 HG02148.hp2 HG02273.hp2 HG02647.hp1 HG03688.hp1 HG03710.hp2 HG04115.hp2 HG04184.hp1 HG04184.hp2 NA18943.hp2 NA18950.hp1 NA18956.hp1 NA18957.hp2 NA18983.hp1 NA18985.hp1 NA18998.hp1 NA19030.hp1 NA19056.hp2 NA19084.hp2 NA19089.hp1 NA20752.hp2 NA20905.hp1	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0001t0001 a0001c0003t0001	a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0015 others(3): Show a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0015 a0001c0001t0001g0034 a0001c0003t0001g0004 a0001c0003t0001g0005	33	384	0.0859	18	c.-46 others(29): Show c.-4630_-4629insATATGTATAAATATAAAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		4542		chr1	TogoVar
PLK3_chr1_44795377_44810990	44796416	A A	AATATATA others(11): Show AATATATAAATATATAAAG	upstream_gene_variant upstream_gene_variant	MODIFIER	HG02615.hp1 HG02886.hp1 HG02615.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	2	384	0.0052	18	c.-40 others(29): Show c.-4048_-4047insATATATAAATATATAAAG	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		3960		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797981	A A	AATATATA others(11): Show AATATATATATATATATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01433.hp2 HG01433.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0003 a0001c0001t0001g0003	1	384	0.0026	18	c.-24 others(29): Show c.-2483_-2482insATATATATATATATATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2395		chr1	TogoVar
PLK3_chr1_44795377_44810990	44797983	A A	AAAAAAAA others(11): Show AAAAAAAAAAAAAAAATAT	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0002 a0001c0002t0001g0002	1	384	0.0026	18	c.-24 others(29): Show c.-2481_-2480insAAAAAAAAAAAAAAATAT	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		2393		chr1	TogoVar

Search by Variant

Search

Search Results