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
PKD1L3_chr16_71924538_72005402	71956184	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02451.hp2	a0032 a0032	a0032c0054 a0032c0054	a0032c0054t0001 a0032c0054t0001	a0032c0054t0001g0067 a0032c0054t0001g0067	1	11	0.0909	29	c.261 others(48): Show c.2613-1884_2613-1883insAAAAAAAAAAAAAAAAAAAAAAAAAA AAA	PKD1L3	ENSG00000277481.2	transcript	ENST00000620267.2	protein_coding	16/29			chr16	TogoVar
PKD1_chr16_2083708_2140898	2104079	T T	TGATGGGG others(22): Show TGATGGGGATGAGGACGAAGATGAGGGGGA	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0003 a0003	a0003c0100 a0003c0100	a0003c0100t0001 a0003c0100t0001	a0003c0100t0001g0094 a0003c0100t0001g0094	1	214	0.0047	29	c.816 others(46): Show c.8162-213_8162-185dupTCCCCCTCATCTTCGTCCTCATCCCCAT C	PKD1	ENSG00000008710.20	transcript	ENST00000262304.9	protein_coding	22/45			chr16	TogoVar
PKD2L1_chr10_100283149_100335228	100321755	G G	GAAAGAAA others(22): Show GAAAGAAAGAAAGAAAGAAAGAAAGAAAGA	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03225.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0276 a0001c0001t0001g0276	1	300	0.0033	29	c.349 others(46): Show c.349+7455_349+7456insTCTTTCTTTCTTTCTTTCTTTCTTTCTT T	PKD2L1	ENSG00000107593.17	transcript	ENST00000318222.4	protein_coding	2/15			chr10	TogoVar
PKHD1L1_chr8_109357461_109542207	109410726	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTGTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0258 a0001c0001t0007g0258	1	55	0.0182	29	c.208 others(46): Show c.2085+765_2085+766insGTTTTTTTTTTTTTTTTTTTTTTTTTTT T	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	19/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1L1_chr8_109357461_109542207	109410726	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTGTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01261.hp2 HG01261.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0259 a0001c0001t0007g0259	1	55	0.0182	29	c.208 others(46): Show c.2085+766_2085+767insGTTTTTTTTTTTTTTTTTTTTTTTTTTT T	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	19/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKHD1L1_chr8_109357461_109542207	109410726	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03579.hp2 HG03579.hp2	a0005 a0005	a0005c0005 a0005c0005	a0005c0005t0005 a0005c0005t0005	a0005c0005t0005g0139 a0005c0005t0005g0139	1	55	0.0182	29	c.208 others(46): Show c.2085+769_2085+770insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	PKHD1L1	ENSG00000205038.12	transcript	ENST00000378402.10	protein_coding	19/77		INFO_REALIGN_3_PRIME	chr8	TogoVar
PKN3_chr9_128697503_128725916	128717117	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA19055.hp1 NA19055.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0136 a0001c0001t0001g0136	1	12	0.0833	29	c.198 others(46): Show c.1985+220_1985+221insTTTTTTTTTTTTTTTTTTTTTTTTTTTT T	PKN3	ENSG00000160447.7	transcript	ENST00000291906.5	protein_coding	16/21		INFO_REALIGN_3_PRIME	chr9	TogoVar
PKP2_chr12_32785755_32901777	32865681	C C	CAAAAAAA others(22): Show CAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	intron_variant intron_variant	MODIFIER	HG01884.hp2 HG02280.hp2 HG02809.hp2 others(1): Show HG01884.hp2 HG02280.hp2 HG02809.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0003 a0001c0001t0005 a0001c0001t0001 a0001c0001t0003 a0001c0001t0005	a0001c0001t0001g0153 a0001c0001t0003g0020 a0001c0001t0005g0148 others(1): Show a0001c0001t0001g0153 a0001c0001t0003g0020 a0001c0001t0005g0148 a0001c0001t0005g0150	4	129	0.0310	29	c.117 others(48): Show c.1170+3245_1170+3246insTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PKP2	ENSG00000057294.18	transcript	ENST00000340811.9	protein_coding	4/12			chr12	TogoVar
PKP3_chr11_389209_409908	398025	G G	GCGTCACC others(22): Show GCGTCACCTCCGTACCCCCGCACACACCTC	intron_variant intron_variant	MODIFIER	HG02809.hp1 HG02809.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0170 a0001c0002t0001g0170	1	209	0.0048	29	c.106 others(46): Show c.1068+391_1068+392insCCGTCACCTCCGTACCCCCGCACACACC T	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398199	A A	ATCACCTC others(22): Show ATCACCTCCGTACCCCCGCACACACCTCCG	intron_variant intron_variant	MODIFIER	HG02647.hp2 HG02647.hp2	a0013 a0013	a0013c0037 a0013c0037	a0013c0037t0005 a0013c0037t0005	a0013c0037t0005g0087 a0013c0037t0005g0087	1	205	0.0049	29	c.106 others(46): Show c.1068+563_1068+564insCCGTCACCTCCGTACCCCCGCACACACC T	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398199	A A	ATCACCTC others(22): Show ATCACCTCCGTACCCCCGCACACACCTGCG	intron_variant intron_variant	MODIFIER	HG02922.hp1 HG02922.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0011 a0001c0001t0001g0011	1	205	0.0049	29	c.106 others(46): Show c.1068+546_1068+574dupGTACCCCCGCACACACCTGCGTCACCTC C	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398294	C C	CTACCCCC others(22): Show CTACCCCCGCACACACCTGCGTCACCTCCG	intron_variant intron_variant	MODIFIER	HG03453.hp2 HG03579.hp2 HG03453.hp2 HG03579.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0028 a0001c0001t0001g0029	2	203	0.0099	29	c.106 others(46): Show c.1068+639_1069-663dupCGCACACACCTGCGTCACCTCCGTACCC C	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398343	G G	GTCACCTC others(22): Show GTCACCTCCGTACCCCCGCACACACCTGCA	intron_variant intron_variant	MODIFIER	HG03209.hp2 HG03209.hp2	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0093 a0001c0008t0001g0093	1	214	0.0047	29	c.106 others(46): Show c.1069-621_1069-620insATCACCTCCGTACCCCCGCACACACCTG C	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398383	A A	ACCCCCAC others(22): Show ACCCCCACATATACCTCATCACCTCCATAC	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	213	0.0047	29	c.106 others(46): Show c.1069-604_1069-603insACATATACCTCATCACCTCCATACCCCC C	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398399	G G	GCGTCACC others(22): Show GCGTCACCTCCGTACCCCCGCACACACCTC	intron_variant intron_variant	MODIFIER	HG00642.hp2 HG00642.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0164 a0001c0002t0001g0164	1	201	0.0050	29	c.106 others(46): Show c.1069-565_1069-564insCCGTCACCTCCGTACCCCCGCACACACC T	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398410	G G	GTACCCCC others(22): Show GTACCCCCGCACACACCTGCGTCACCTCCC	intron_variant intron_variant	MODIFIER	HG03516.hp1 HG03516.hp1	a0001 a0001	a0001c0008 a0001c0008	a0001c0008t0001 a0001c0008t0001	a0001c0008t0001g0192 a0001c0008t0001g0192	1	168	0.0060	29	c.106 others(46): Show c.1069-553_1069-525dupCTACCCCCGCACACACCTGCGTCACCTC C	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398410	G G	GTACCCCC others(22): Show GTACCCCCGCACACACCTGCGTCACCTTCC	intron_variant intron_variant	MODIFIER	HG01192.hp1 HG01192.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0076 a0001c0001t0001g0076	1	168	0.0060	29	c.106 others(46): Show c.1069-556_1069-555insTCCTACCCCCGCACACACCTGCGTCACC T	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398418	G G	GCACACAC others(22): Show GCACACACCTGCATCACCTCCATACCCCCA	intron_variant intron_variant	MODIFIER	NA19011.hp1 NA19011.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0018 a0001c0001t0001g0018	1	214	0.0047	29	c.106 others(46): Show c.1069-563_1069-562insATCACCTCCATACCCCCACACACACCTG C	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398439	C C	CTACCCCC others(22): Show CTACCCCCGCACACACCTCCGTCACCTCCG	intron_variant intron_variant	MODIFIER	HG01069.hp2 HG01069.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0101 a0001c0002t0001g0101	1	83	0.0120	29	c.106 others(46): Show c.1069-536_1069-535insCCGTCACCTCCGTACCCCCGCACACACC T	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398439	C C	CTACCCCC others(22): Show CTACCCCCGCACACACCTGCGTCACCTCCG	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00099.hp2 HG00544.hp1 others(82): Show HG00099.hp1 HG00099.hp2 HG00544.hp1 HG00609.hp1 HG00609.hp2 HG00621.hp2 HG00639.hp1 HG00639.hp2 HG00673.hp1 HG01256.hp1 HG01884.hp2 HG01934.hp1 HG01943.hp2 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02027.hp1 HG02027.hp2 HG02056.hp2 HG02074.hp1 HG02109.hp2 HG02129.hp1 HG02129.hp2 HG02132.hp1 HG02165.hp1 HG02165.hp2 HG02258.hp2 HG02486.hp1 HG02683.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02809.hp2 HG02922.hp2 HG02976.hp1 HG03017.hp1 HG03453.hp2 HG03492.hp1 HG03516.hp2 HG03579.hp2 HG03704.hp2 HG03927.hp2 HG04199.hp2 HG04204.hp1 NA18522.hp1 NA18612.hp1 NA18612.hp2 NA18943.hp1 NA18945.hp2 NA18947.hp1 NA18947.hp2 NA18950.hp2 NA18952.hp1 NA18952.hp2 NA18966.hp2 NA18970.hp1 NA18970.hp2 NA18971.hp2 NA18980.hp1 NA18980.hp2 NA18983.hp1 NA18983.hp2 NA18994.hp2 NA19004.hp1 NA19005.hp1 NA19007.hp1 NA19007.hp2 NA19011.hp2 NA19030.hp1 NA19043.hp2 NA19054.hp1 NA19054.hp2 NA19065.hp1 NA19065.hp2 NA19067.hp1 NA19067.hp2 NA19079.hp1 NA19085.hp1 NA19085.hp2 NA19087.hp1 NA19087.hp2 NA19088.hp2 NA20805.hp1 NA20905.hp1 NA20905.hp2	a0001 a0004 a0014 others(1): Show a0001 a0004 a0014 a0019	a0001c0001 a0001c0002 a0001c0003 others(10): Show a0001c0001 a0001c0002 a0001c0003 a0001c0004 a0001c0005 a0001c0006 a0001c0009 a0001c0011 a0001c0012 a0001c0028 a0004c0015 a0014c0034 a0019c0032	a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 others(11): Show a0001c0001t0001 a0001c0002t0001 a0001c0003t0001 a0001c0004t0001 a0001c0005t0001 a0001c0005t0004 a0001c0006t0001 a0001c0009t0001 a0001c0011t0001 a0001c0012t0001 a0001c0028t0001 a0004c0015t0001 a0014c0034t0001 a0019c0032t0001	a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0017 others(79): Show a0001c0001t0001g0001 a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0020 a0001c0001t0001g0028 a0001c0001t0001g0029 a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0051 a0001c0001t0001g0052 a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0057 a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0002t0001g0004 a0001c0002t0001g0100 a0001c0002t0001g0110 a0001c0002t0001g0124 a0001c0002t0001g0125 a0001c0002t0001g0126 a0001c0002t0001g0127 a0001c0002t0001g0130 a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0133 a0001c0002t0001g0134 a0001c0002t0001g0135 a0001c0002t0001g0136 a0001c0002t0001g0137 a0001c0002t0001g0138 a0001c0002t0001g0145 a0001c0002t0001g0146 a0001c0002t0001g0148 a0001c0002t0001g0168 a0001c0002t0001g0169 a0001c0003t0001g0099 a0001c0003t0001g0105 a0001c0003t0001g0139 a0001c0003t0001g0141 a0001c0003t0001g0142 a0001c0003t0001g0143 a0001c0003t0001g0147 a0001c0003t0001g0149 a0001c0003t0001g0150 a0001c0003t0001g0151 a0001c0003t0001g0152 a0001c0003t0001g0153 a0001c0003t0001g0154 a0001c0003t0001g0155 a0001c0003t0001g0158 a0001c0004t0001g0094 a0001c0005t0001g0040 a0001c0005t0001g0084 a0001c0005t0001g0085 a0001c0005t0001g0090 a0001c0005t0004g0006 a0001c0006t0001g0068 a0001c0009t0001g0102 a0001c0009t0001g0121 a0001c0009t0001g0122 a0001c0009t0001g0123 a0001c0009t0001g0129 a0001c0011t0001g0001 a0001c0011t0001g0050 a0001c0011t0001g0063 a0001c0012t0001g0119 a0001c0012t0001g0120 a0001c0028t0001g0128 a0004c0015t0001g0058 a0014c0034t0001g0157 a0019c0032t0001g0144	85	167	0.5090	29	c.106 others(46): Show c.1069-535_1069-507dupGCGTCACCTCCGTACCCCCGCACACACC T	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398526	G G	GTACCCCC others(22): Show GTACCCCCGCACACACCTGCGTCACCTCCC	intron_variant intron_variant	MODIFIER	HG03486.hp2 NA18522.hp2 HG03486.hp2 NA18522.hp2	a0001 a0001	a0001c0004 a0001c0008 a0001c0004 a0001c0008	a0001c0004t0001 a0001c0008t0001 a0001c0004t0001 a0001c0008t0001	a0001c0004t0001g0193 a0001c0008t0001g0194 a0001c0004t0001g0193 a0001c0008t0001g0194	2	185	0.0108	29	c.106 others(46): Show c.1069-438_1069-437insCTACCCCCGCACACACCTGCGTCACCTC C	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398526	G G	GTACCCCC others(22): Show GTACCCCCGCACACACCTGTGTCACCTCCA	intron_variant intron_variant	MODIFIER	HG03516.hp2 HG03516.hp2	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0090 a0001c0005t0001g0090	1	184	0.0054	29	c.106 others(46): Show c.1069-448_1069-447insTGTCACCTCCATACCCCCGCACACACCT G	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398544	G G	GCGTCACC others(22): Show GCGTCACCTCCCTACCCCCGCACACACCTC	intron_variant intron_variant	MODIFIER	HG00621.hp2 NA19087.hp1 HG00621.hp2 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0041 a0001c0001t0001g0042	2	203	0.0099	29	c.106 others(46): Show c.1069-438_1069-437insCTACCCCCGCACACACCTCCGTCACCTC C	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398602	G G	GCGTCACC others(22): Show GCGTCACCTCCGTACCCCCGCACACACCTC	intron_variant intron_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0006 a0006	a0006c0031 a0006c0031	a0006c0031t0001 a0006c0031t0001	a0006c0031t0001g0163 a0006c0031t0001g0163	1	206	0.0049	29	c.106 others(46): Show c.1069-380_1069-379insGTACCCCCGCACACACCTCCGTCACCTC C	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398642	C C	CTACCCCC others(22): Show CTACCCCCGCACACACCTCCGTCACCTCCG	intron_variant intron_variant	MODIFIER	HG01884.hp1 HG01884.hp1	a0001 a0001	a0001c0005 a0001c0005	a0001c0005t0001 a0001c0005t0001	a0001c0005t0001g0091 a0001c0005t0001g0091	1	159	0.0063	29	c.106 others(46): Show c.1069-333_1069-332insCCGTCACCTCCGTACCCCCGCACACACC T	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398671	C C	CTACCCCC others(22): Show CTACCCCCGCACACACCTCCGTCACCTCCG	intron_variant intron_variant	MODIFIER	HG01256.hp2 HG01258.hp2 HG01358.hp2 others(2): Show HG01256.hp2 HG01258.hp2 HG01358.hp2 HG01952.hp1 NA18952.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0003 a0001c0003t0001g0095 a0001c0003t0001g0115 others(1): Show a0001c0003t0001g0003 a0001c0003t0001g0095 a0001c0003t0001g0115 a0001c0003t0001g0155	5	54	0.0926	29	c.106 others(46): Show c.1069-304_1069-303insCCGTCACCTCCGTACCCCCGCACACACC T	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398792	C C	CCCGCACA others(22): Show CCCGCACACACCTCCGTCACCTCCCTACCG	intron_variant intron_variant	MODIFIER	HG01981.hp1 HG02148.hp2 HG02273.hp1 others(1): Show HG01981.hp1 HG02148.hp2 HG02273.hp1 NA18971.hp1	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0113 others(1): Show a0001c0003t0001g0111 a0001c0003t0001g0112 a0001c0003t0001g0113 a0001c0003t0001g0116	4	214	0.0187	29	c.106 others(46): Show c.1069-188_1069-187insCCGTCACCTCCCTACCGCCGCACACACC T	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398816	G G	GTACCCCC others(22): Show GTACCCCCGCACACACCTGCGTCACCTCCC	intron_variant intron_variant	MODIFIER	HG01975.hp2 HG01975.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0098 a0001c0003t0001g0098	1	212	0.0047	29	c.106 others(46): Show c.1069-159_1069-158insGCGTCACCTCCCTACCCCCGCACACACC T	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	398834	C C	CCGTCACC others(22): Show CCGTCACCTCCGTACCCCCGCACACACCTG	intron_variant intron_variant	MODIFIER	HG04204.hp1 HG04204.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0136 a0001c0002t0001g0136	1	210	0.0048	29	c.106 others(46): Show c.1069-148_1069-147insGTACCCCCGCACACACCTGCGTCACCTC C	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	4/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
PKP3_chr11_389209_409908	401707	G G	GCCCCGCT others(22): Show GCCCCGCTCACACCCGCCCCGCTCACACCC	intron_variant intron_variant	MODIFIER	HG01943.hp1 HG01943.hp1	a0009 a0009	a0009c0033 a0009c0033	a0009c0033t0001 a0009c0033t0001	a0009c0033t0001g0160 a0009c0033t0001g0160	1	212	0.0047	29	c.173 others(48): Show c.1737+1002_1737+1003insCCCCGCTCACACCCGCCCCGCTCACA CCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PKP3_chr11_389209_409908	401901	G G	GACCCGCT others(22): Show GACCCGCTCACCCCGACCCCGCTCACCCCC	intron_variant intron_variant	MODIFIER	NA19079.hp1 NA19079.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0001	a0001c0004t0001g0094 a0001c0004t0001g0094	1	210	0.0048	29	c.173 others(48): Show c.1738-1177_1738-1176insACCCGCTCACCCCGACCCCGCTCACC CCC	PKP3	ENSG00000184363.10	transcript	ENST00000331563.7	protein_coding	8/12			chr11	TogoVar
PLA2R1_chr2_159927006_160067615	159935945	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG02293.hp2 HG02293.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0077 a0001c0001t0077	a0001c0001t0077g0197 a0001c0001t0077g0197	1	25	0.0400	29	c.58 others(40): Show c.5832_*5833insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PLA2R1	ENSG00000153246.13	transcript	ENST00000283243.13	protein_coding	30/30	5832		chr2	TogoVar
PLAGL1_chr6_143935300_144013259	143943031	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01256.hp1 HG01256.hp2 HG03017.hp1 others(1): Show HG01256.hp1 HG01256.hp2 HG03017.hp1 NA19086.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0008 a0001c0001t0001 a0001c0001t0008	a0001c0001t0001g0088 a0001c0001t0001g0302 a0001c0001t0001g0308 others(1): Show a0001c0001t0001g0088 a0001c0001t0001g0302 a0001c0001t0001g0308 a0001c0001t0008g0015	4	13	0.3077	29	c.153 others(44): Show c.153-369_153-368insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	PLAGL1	ENSG00000118495.21	transcript	ENST00000674357.1	protein_coding	7/7			chr6	TogoVar
PLB1_chr2_28491060_28649142	28554489	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG01978.hp2 HG01978.hp2	a0006 a0006	a0006c0005 a0006c0005	a0006c0005t0002 a0006c0005t0002	a0006c0005t0002g0148 a0006c0005t0002g0148	1	35	0.0286	29	c.114 others(48): Show c.1147+1499_1147+1527dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PLB1	ENSG00000163803.13	transcript	ENST00000327757.10	protein_coding	17/57		INFO_REALIGN_3_PRIME	chr2	TogoVar
PLBD2_chr12_113353587_113396629	113389025	C C	CCAGCTGC others(22): Show CCAGCTGCATTCCCACGGGTGGCCCTGGAG	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG00438.hp1 HG00438.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0030 a0001c0001t0030	a0001c0001t0030g0107 a0001c0001t0030g0107	1	276	0.0036	29	c.40 others(38): Show c.401_*429dupAGCTGCATTCCCACGGGTGGCCCTGGAGC	PLBD2	ENSG00000151176.8	transcript	ENST00000280800.5	protein_coding	12/12	430	INFO_REALIGN_3_PRIME	chr12	TogoVar
PLCB1_chr20_8127266_8889900	8662015	A A	ATATAATT others(22): Show ATATAATTATATAATTATTTATTATATAAT	intron_variant intron_variant	MODIFIER	HG03225.hp1 HG03471.hp1 HG03540.hp2 others(1): Show HG03225.hp1 HG03471.hp1 HG03540.hp2 HG03579.hp2	a0001 a0007 a0001 a0007	a0001c0002 a0001c0010 a0001c0018 others(1): Show a0001c0002 a0001c0010 a0001c0018 a0007c0012	a0001c0002t0001 a0001c0010t0001 a0001c0018t0017 others(1): Show a0001c0002t0001 a0001c0010t0001 a0001c0018t0017 a0007c0012t0002	a0001c0002t0001g0037 a0001c0010t0001g0086 a0001c0018t0017g0018 others(1): Show a0001c0002t0001g0037 a0001c0010t0001g0086 a0001c0018t0017g0018 a0007c0012t0002g0001	4	106	0.0377	29	c.862 others(46): Show c.862+3317_862+3318insTATATAATTATTTATTATATAATTATAA T	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB1_chr20_8127266_8889900	8662027	A A	ATTATTTA others(22): Show ATTATTTATTATATAATTATATATAATTAT	intron_variant intron_variant	MODIFIER	HG03041.hp1 HG03041.hp1	a0002 a0002	a0002c0025 a0002c0025	a0002c0025t0001 a0002c0025t0001	a0002c0025t0001g0044 a0002c0025t0001g0044	1	106	0.0094	29	c.862 others(46): Show c.862+3324_862+3352dupTTATTTATTATATAATTATATATAATTA T	PLCB1	ENSG00000182621.19	transcript	ENST00000338037.11	protein_coding	9/31		INFO_REALIGN_3_PRIME	chr20	TogoVar
PLCB3_chr11_64246530_64272923	64257016	T T	TTTTTTTT others(22): Show TTTTTTTTTTTTTTTTTTTTTTTTTTTTTC	intron_variant intron_variant	MODIFIER	HG03688.hp2 NA19065.hp1 HG03688.hp2 NA19065.hp1	a0001 a0001	a0001c0004 a0001c0004	a0001c0004t0001 a0001c0004t0002 a0001c0004t0001 a0001c0004t0002	a0001c0004t0001g0021 a0001c0004t0002g0027 a0001c0004t0001g0021 a0001c0004t0002g0027	2	297	0.0067	29	c.101 others(46): Show c.1012+257_1012+258insTTTTTTTTTTTTTTTTTTTTTTTCTTTT T	PLCB3	ENSG00000149782.13	transcript	ENST00000279230.12	protein_coding	10/30		INFO_REALIGN_3_PRIME	chr11	TogoVar
PLCE1_chr10_93988931_94337823	94106944	C C	CTCTCTCT others(22): Show CTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	intron_variant intron_variant	MODIFIER	HG01358.hp2 HG01358.hp2	a0015 a0015	a0015c0026 a0015c0026	a0015c0026t0015 a0015c0026t0015	a0015c0026t0015g0054 a0015c0026t0015g0054	1	114	0.0088	29	c.120 others(50): Show c.1207-25230_1207-25229insTCTCTCTCTCTCTCTCTCTCTCTC TCTCT	PLCE1	ENSG00000138193.17	transcript	ENST00000371380.8	protein_coding	2/32			chr10	TogoVar
PLCG2_chr16_81774291_81967685	81877760	G G	GTGTAGAT others(22): Show GTGTAGATGTCATTGCATCGCTCCTTGGCT	intron_variant intron_variant	MODIFIER	NA18945.hp1 NA18991.hp2 NA19079.hp1 others(1): Show NA18945.hp1 NA18991.hp2 NA19079.hp1 NA19081.hp1	a0001 a0021 a0001 a0021	a0001c0001 a0021c0048 a0001c0001 a0021c0048	a0001c0001t0001 a0001c0001t0004 a0021c0048t0001 a0001c0001t0001 a0001c0001t0004 a0021c0048t0001	a0001c0001t0001g0122 a0001c0001t0001g0186 a0001c0001t0004g0046 others(1): Show a0001c0001t0001g0122 a0001c0001t0001g0186 a0001c0001t0004g0046 a0021c0048t0001g0190	4	276	0.0145	29	c.649 others(46): Show c.649-3048_649-3020dupCATCGCTCCTTGGCTTGTAGATGTCATT G	PLCG2	ENSG00000197943.12	transcript	ENST00000564138.6	protein_coding	7/32		INFO_REALIGN_3_PRIME	chr16	TogoVar
PLCXD1_chrX_276381_308356	287468	T T	TATACTAT others(22): Show TATACTATATATGTTTATATATAGATATAG	intron_variant intron_variant	MODIFIER	HG01975.hp1 HG01975.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0103 a0001c0002t0103	a0001c0002t0103g0141 a0001c0002t0103g0141	1	146	0.0068	29	c.128 others(46): Show c.128-1102_128-1074dupATATAGATATAGATACTATATATGTTTA T	PLCXD1	ENSG00000182378.15	transcript	ENST00000381657.8	protein_coding	2/6		INFO_REALIGN_3_PRIME	chrX	TogoVar
PLCXD3_chr5_41301952_41515601	41403398	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTGTTTTTGTTT	intron_variant intron_variant	MODIFIER	HG02258.hp1 HG02258.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0018 a0001c0001t0018	a0001c0001t0018g0186 a0001c0001t0018g0186	1	204	0.0049	29	c.104 others(48): Show c.104-20865_104-20864insAAACAAAAACAAAAAAAAAAAAAAAA AAA	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLCXD3_chr5_41301952_41515601	41403398	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTGTTTTTTTT	intron_variant intron_variant	MODIFIER	HG00423.hp2 HG00423.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0114 a0001c0001t0001g0114	1	204	0.0049	29	c.104 others(48): Show c.104-20865_104-20864insAAAAAAAACAAAAAAAAAAAAAAAAA AAA	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLCXD3_chr5_41301952_41515601	41403398	G G	GTTTTTTT others(22): Show GTTTTTTTTTTTTTTTTTTTTTGTTTTTGT	intron_variant intron_variant	MODIFIER	HG03942.hp2 HG03942.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0039 a0001c0001t0039	a0001c0001t0039g0054 a0001c0001t0039g0054	1	204	0.0049	29	c.104 others(48): Show c.104-20865_104-20864insACAAAAACAAAAAAAAAAAAAAAAAA AAA	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLCXD3_chr5_41301952_41515601	41403408	T T	TTTTTTTT others(22): Show TTTTTTTTTTTTTGTTTTTGTTTTTTTTTA	intron_variant intron_variant	MODIFIER	HG01361.hp1 HG01361.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0011 a0001c0002t0011	a0001c0002t0011g0125 a0001c0002t0011g0125	1	217	0.0046	29	c.104 others(48): Show c.104-20875_104-20874insTAAAAAAAAACAAAAACAAAAAAAAA AAA	PLCXD3	ENSG00000182836.11	transcript	ENST00000377801.8	protein_coding	1/2			chr5	TogoVar
PLD1_chr3_171595404_171815483	171639630	T T	TATAATAT others(22): Show TATAATATATATTATATATAATATATATTC	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0018 a0001c0002t0018	a0001c0002t0018g0120 a0001c0002t0018g0120	1	286	0.0035	29	c.259 others(48): Show c.2593+3209_2593+3210insGAATATATATTATATATAATATATAT TAT	PLD1	ENSG00000075651.17	transcript	ENST00000351298.9	protein_coding	23/26			chr3	TogoVar
PLD5_chr1_242077986_242529697	242190077	A A	AGGACCTT others(22): Show AGGACCTTCACTAAGGTCCTTCACTCCCTC	intron_variant intron_variant	MODIFIER	HG02922.hp2 HG02922.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0116 a0001c0001t0021g0116	1	186	0.0054	29	c.735 others(48): Show c.735+29882_735+29910dupGAGGGAGTGAAGGACCTTAGTGAAGG TCC	PLD5	ENSG00000180287.17	transcript	ENST00000536534.7	protein_coding	5/9			chr1	TogoVar
PLEKHA2_chr8_38896346_38978912	38933790	A A	AAAAAAAA others(22): Show AAAAAAAAAAAAAAAAAAAAAAAAAAAAAG	intron_variant intron_variant	MODIFIER	HG01070.hp2 HG02622.hp1 HG01070.hp2 HG02622.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0016 a0001c0001t0001 a0001c0001t0016	a0001c0001t0001g0274 a0001c0001t0016g0148 a0001c0001t0001g0274 a0001c0001t0016g0148	2	247	0.0081	29	c.142 others(46): Show c.142-2200_142-2199insAAAAAAAAAAAAAAAAAAAAAAAAGAAA A	PLEKHA2	ENSG00000169499.15	transcript	ENST00000617275.5	protein_coding	2/11		INFO_REALIGN_3_PRIME	chr8	TogoVar
PLEKHA5_chr12_19124733_19381400	19167405	A A	ATTTTTTT others(22): Show ATTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	NA18522.hp2 NA18522.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0007 a0001c0001t0007	a0001c0001t0007g0308 a0001c0001t0007g0308	1	48	0.0208	29	c.227 others(48): Show c.227+34956_227+34984dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHA5_chr12_19124733_19381400	19173005	C C	CTTTTTTT others(22): Show CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	intron_variant intron_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0006 a0001c0001t0006	a0001c0001t0006g0138 a0001c0001t0006g0138	1	17	0.0588	29	c.227 others(48): Show c.227+40556_227+40584dupTTTTTTTTTTTTTTTTTTTTTTTTTT TTT	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	3/31		INFO_REALIGN_3_PRIME	chr12	TogoVar

Search by Variant

Search

Search Results