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
PLEKHA4_chr19_48832097_48873617	48835149	GCTGAGGT others(29): Show GCTGAGGTCTGGACTCCTGGGTCCGAGGAAGTAGGGC	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00408.hp2 HG02257.hp1 HG02738.hp2 others(8): Show HG00408.hp2 HG02257.hp1 HG02738.hp2 HG03710.hp2 NA18948.hp2 NA18974.hp2 NA18975.hp1 NA18979.hp1 NA18979.hp2 NA18986.hp2 NA19065.hp2	a0001 a0002 a0003 others(2): Show a0001 a0002 a0003 a0004 a0007	a0001c0001 a0002c0002 a0003c0003 others(2): Show a0001c0001 a0002c0002 a0003c0003 a0004c0004 a0007c0009	a0001c0001t0001 a0002c0002t0002 a0003c0003t0006 others(2): Show a0001c0001t0001 a0002c0002t0002 a0003c0003t0006 a0004c0004t0003 a0007c0009t0001	a0001c0001t0001g0108 a0001c0001t0001g0189 a0002c0002t0002g0064 others(8): Show a0001c0001t0001g0108 a0001c0001t0001g0189 a0002c0002t0002g0064 a0002c0002t0002g0074 a0002c0002t0002g0082 a0003c0003t0006g0251 a0003c0003t0006g0252 a0003c0003t0006g0256 a0004c0004t0003g0243 a0004c0004t0003g0245 a0007c0009t0001g0119	11	298	0.0369	-36	c.21 others(47): Show c.2104_*2139delGCCCTACTTCCTCGGACCCAGGAGTCCAGACCTC AG	PLEKHA4	ENSG00000105559.13	transcript	ENST00000263265.11	protein_coding		1947		chr19	TogoVar
PLEKHA5_chr12_19124733_19381400	19362853	GCAGTCGG others(29): Show GCAGTCGGCCCTCCATATTCATGGATTTATGCCTTTA	G G	intron_variant intron_variant	MODIFIER	NA18955.hp2 NA19085.hp1 NA18955.hp2 NA19085.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0004 a0001c0001t0004	a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0160 a0001c0001t0004g0161	2	314	0.0064	-36	c.360 others(55): Show c.3608+1165_3608+1200delTCATGGATTTATGCCTTTACAGTCGG CCCTCCATAT	PLEKHA5	ENSG00000052126.17	transcript	ENST00000429027.7	protein_coding	29/31		INFO_REALIGN_3_PRIME	chr12	TogoVar
PLEKHA6_chr1_204213853_204364929	204234954	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00408.hp2 HG00558.hp2 HG00621.hp1 others(79): Show HG00408.hp2 HG00558.hp2 HG00621.hp1 HG00639.hp1 HG00733.hp1 HG00738.hp1 HG00741.hp1 HG01071.hp2 HG01074.hp1 HG01081.hp2 HG01099.hp1 HG01109.hp1 HG01109.hp2 HG01123.hp1 HG01168.hp1 HG01168.hp2 HG01169.hp2 HG01175.hp1 HG01192.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp1 HG01496.hp2 HG01934.hp2 HG01952.hp1 HG01978.hp1 HG01981.hp1 HG01993.hp1 HG02015.hp2 HG02055.hp2 HG02056.hp2 HG02071.hp2 HG02074.hp2 HG02148.hp2 HG02451.hp2 HG02523.hp2 HG02698.hp2 HG02738.hp1 HG02738.hp2 HG02976.hp1 HG03041.hp1 HG03209.hp2 HG03225.hp2 HG03471.hp1 HG03490.hp1 HG03704.hp2 HG03831.hp2 HG03927.hp1 HG04204.hp1 HG06807.hp1 NA18522.hp2 NA18612.hp1 NA18906.hp2 NA18940.hp2 NA18944.hp1 NA18950.hp2 NA18952.hp1 NA18953.hp1 NA18953.hp2 NA18960.hp2 NA18962.hp2 NA18966.hp2 NA18969.hp1 NA18969.hp2 NA18971.hp1 NA18971.hp2 NA18980.hp2 NA18983.hp2 NA18984.hp1 NA19002.hp1 NA19003.hp1 NA19007.hp2 NA19065.hp2 NA19080.hp1 NA19081.hp1 NA19082.hp2 NA19086.hp1 NA19240.hp1 NA20752.hp1 NA20805.hp2 NA20905.hp1	a0001 a0002 a0004 others(2): Show a0001 a0002 a0004 a0005 a0014	a0001c0001 a0001c0009 a0002c0002 others(3): Show a0001c0001 a0001c0009 a0002c0002 a0004c0004 a0005c0010 a0014c0020	a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 others(24): Show a0001c0001t0002 a0001c0001t0004 a0001c0001t0014 a0001c0001t0015 a0001c0001t0016 a0001c0001t0017 a0001c0001t0018 a0001c0001t0021 a0001c0001t0022 a0001c0001t0024 a0001c0001t0025 a0001c0001t0028 a0001c0001t0036 a0001c0001t0039 a0001c0001t0040 a0001c0001t0041 a0001c0001t0047 a0001c0001t0049 a0001c0009t0002 a0001c0009t0048 a0002c0002t0001 a0004c0004t0001 a0004c0004t0004 a0004c0004t0021 a0005c0010t0004 a0005c0010t0018 a0014c0020t0002	a0001c0001t0002g0016 a0001c0001t0002g0032 a0001c0001t0002g0034 others(79): Show a0001c0001t0002g0016 a0001c0001t0002g0032 a0001c0001t0002g0034 a0001c0001t0002g0035 a0001c0001t0002g0046 a0001c0001t0002g0050 a0001c0001t0002g0058 a0001c0001t0002g0059 a0001c0001t0002g0061 a0001c0001t0002g0083 a0001c0001t0002g0086 a0001c0001t0002g0093 a0001c0001t0002g0096 a0001c0001t0002g0098 a0001c0001t0002g0101 a0001c0001t0002g0103 a0001c0001t0002g0114 a0001c0001t0002g0116 a0001c0001t0002g0119 a0001c0001t0002g0121 a0001c0001t0002g0126 a0001c0001t0002g0129 a0001c0001t0002g0132 a0001c0001t0002g0149 a0001c0001t0002g0155 a0001c0001t0002g0162 a0001c0001t0002g0175 a0001c0001t0002g0181 a0001c0001t0002g0182 a0001c0001t0002g0183 a0001c0001t0002g0184 a0001c0001t0002g0239 a0001c0001t0002g0243 a0001c0001t0004g0011 a0001c0001t0004g0013 a0001c0001t0004g0036 a0001c0001t0004g0047 a0001c0001t0004g0049 a0001c0001t0004g0076 a0001c0001t0004g0084 a0001c0001t0004g0094 a0001c0001t0004g0124 a0001c0001t0004g0172 a0001c0001t0004g0173 a0001c0001t0004g0230 a0001c0001t0014g0033 a0001c0001t0014g0107 a0001c0001t0014g0110 a0001c0001t0015g0042 a0001c0001t0015g0088 a0001c0001t0015g0090 a0001c0001t0016g0037 a0001c0001t0016g0038 a0001c0001t0016g0039 a0001c0001t0017g0122 a0001c0001t0017g0186 a0001c0001t0018g0120 a0001c0001t0018g0249 a0001c0001t0021g0125 a0001c0001t0022g0078 a0001c0001t0022g0087 a0001c0001t0024g0048 a0001c0001t0024g0053 a0001c0001t0025g0259 a0001c0001t0028g0004 a0001c0001t0036g0068 a0001c0001t0039g0077 a0001c0001t0040g0089 a0001c0001t0041g0115 a0001c0001t0047g0108 a0001c0001t0049g0131 a0001c0009t0002g0104 a0001c0009t0002g0113 a0001c0009t0048g0246 a0002c0002t0001g0028 a0002c0002t0001g0109 a0004c0004t0001g0133 a0004c0004t0004g0238 a0004c0004t0021g0232 a0005c0010t0004g0185 a0005c0010t0018g0150 a0014c0020t0002g0168	82	95	0.8632	-36	c.241 others(55): Show c.2410-4404_2410-4369delTATATATATATATATATATATATATA TATATATATA	PLEKHA6	ENSG00000143850.16	transcript	ENST00000272203.8	protein_coding	17/22			chr1	TogoVar
PLEKHA7_chr11_16772297_17019414	16906224	TAGGAAGG others(29): Show TAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGAAGGA	T T	intron_variant intron_variant	MODIFIER	HG00099.hp1 HG00408.hp2 HG00642.hp2 others(46): Show HG00099.hp1 HG00408.hp2 HG00642.hp2 HG01106.hp2 HG01168.hp1 HG01192.hp2 HG01261.hp2 HG01346.hp2 HG01884.hp2 HG01891.hp2 HG01928.hp1 HG02015.hp1 HG02257.hp2 HG02293.hp1 HG02293.hp2 HG02559.hp1 HG02647.hp1 HG02698.hp1 HG02723.hp1 HG02735.hp1 HG02735.hp2 HG02818.hp2 HG02895.hp1 HG02897.hp2 HG02965.hp1 HG03239.hp2 HG03669.hp1 HG04184.hp1 HG04228.hp2 NA18747.hp2 NA18960.hp2 NA18966.hp1 NA18970.hp2 NA18971.hp1 NA18975.hp2 NA18979.hp2 NA18983.hp1 NA18994.hp1 NA18999.hp2 NA19010.hp2 NA19030.hp1 NA19056.hp1 NA19060.hp1 NA19065.hp2 NA19080.hp2 NA19082.hp2 NA19085.hp2 NA19087.hp1 NA20300.hp1	a0001 a0006 a0001 a0006	a0001c0001 a0001c0002 a0001c0003 others(9): Show a0001c0001 a0001c0002 a0001c0003 a0001c0008 a0001c0009 a0001c0010 a0001c0013 a0001c0023 a0001c0031 a0001c0032 a0006c0017 a0006c0045	a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 others(18): Show a0001c0001t0001 a0001c0001t0003 a0001c0001t0004 a0001c0001t0008 a0001c0001t0009 a0001c0002t0001 a0001c0002t0002 a0001c0002t0003 a0001c0003t0002 a0001c0008t0003 a0001c0009t0002 a0001c0010t0001 a0001c0010t0002 a0001c0010t0003 a0001c0010t0004 a0001c0013t0005 a0001c0023t0002 a0001c0031t0005 a0001c0032t0004 a0006c0017t0001 a0006c0045t0001	a0001c0001t0001g0087 a0001c0001t0003g0140 a0001c0001t0004g0155 others(46): Show a0001c0001t0001g0087 a0001c0001t0003g0140 a0001c0001t0004g0155 a0001c0001t0004g0156 a0001c0001t0004g0157 a0001c0001t0004g0159 a0001c0001t0004g0161 a0001c0001t0008g0119 a0001c0001t0008g0163 a0001c0001t0008g0164 a0001c0001t0009g0160 a0001c0002t0001g0032 a0001c0002t0001g0114 a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0133 a0001c0002t0001g0149 a0001c0002t0001g0152 a0001c0002t0002g0028 a0001c0002t0002g0030 a0001c0002t0002g0034 a0001c0002t0002g0042 a0001c0002t0002g0046 a0001c0002t0002g0058 a0001c0002t0002g0075 a0001c0002t0002g0123 a0001c0002t0002g0131 a0001c0002t0002g0132 a0001c0002t0002g0145 a0001c0002t0003g0049 a0001c0002t0003g0068 a0001c0002t0003g0069 a0001c0002t0003g0148 a0001c0003t0002g0234 a0001c0008t0003g0026 a0001c0009t0002g0082 a0001c0010t0001g0194 a0001c0010t0001g0227 a0001c0010t0002g0198 a0001c0010t0003g0193 a0001c0010t0004g0195 a0001c0013t0005g0052 a0001c0013t0005g0065 a0001c0023t0002g0135 a0001c0031t0005g0008 a0001c0032t0004g0019 a0006c0017t0001g0027 a0006c0017t0001g0048 a0006c0045t0001g0191	49	83	0.5904	-36	c.222 others(55): Show c.222-35078_222-35043delTCCTTCCTTCCTTCCTTCCTTCCTTC CTTCCTTCCT	PLEKHA7	ENSG00000166689.18	transcript	ENST00000531066.6	protein_coding	3/26			chr11	TogoVar
PLEKHF2_chr8_95128785_95161685	95160292	CCCCACCA others(29): Show CCCCACCACCCTCTACTGTCACCATTGCTGCTCTCCT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02074.hp1 HG02074.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0009 a0001c0001t0009	a0001c0001t0009g0008 a0001c0001t0009g0008	1	382	0.0026	-36	c.54 others(47): Show c.5499_*5534delCCCACCACCCTCTACTGTCACCATTGCTGCTCTC CT	PLEKHF2	ENSG00000175895.5	transcript	ENST00000315367.4	protein_coding		3608		chr8	TogoVar
PLEKHG1_chr6_150594885_150848665	150701417	TTATATAT others(29): Show TTATATATATATATATATATATATATATATATATATA	T T	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG00609.hp2 HG01081.hp2 others(41): Show HG00597.hp2 HG00609.hp2 HG01081.hp2 HG01243.hp1 HG02055.hp2 HG02083.hp2 HG02109.hp2 HG02135.hp2 HG02145.hp1 HG02145.hp2 HG02165.hp2 HG02486.hp2 HG02572.hp2 HG02622.hp1 HG02647.hp2 HG02723.hp2 HG02809.hp2 HG02818.hp1 HG02886.hp1 HG02896.hp1 HG02922.hp2 HG02965.hp1 HG02970.hp1 HG02970.hp2 HG03453.hp1 HG03453.hp2 HG03540.hp1 HG03579.hp1 HG03579.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18957.hp1 NA18960.hp2 NA18961.hp2 NA18970.hp2 NA18983.hp2 NA19004.hp1 NA19007.hp1 NA19007.hp2 NA19084.hp2 NA20129.hp1 NA20300.hp2 NA21309.hp2	a0001 a0004 a0005 others(6): Show a0001 a0004 a0005 a0006 a0007 a0010 a0012 a0014 a0020	a0001c0001 a0001c0002 a0001c0004 others(24): Show a0001c0001 a0001c0002 a0001c0004 a0001c0006 a0001c0012 a0001c0013 a0001c0016 a0001c0017 a0001c0021 a0001c0022 a0001c0026 a0001c0033 a0001c0037 a0001c0040 a0001c0053 a0001c0055 a0001c0062 a0004c0025 a0004c0041 a0005c0014 a0006c0039 a0007c0027 a0007c0058 a0010c0030 a0012c0032 a0014c0036 a0020c0034	a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 others(32): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0005 a0001c0002t0001 a0001c0002t0005 a0001c0004t0001 a0001c0006t0001 a0001c0012t0001 a0001c0013t0001 a0001c0013t0005 a0001c0013t0006 a0001c0016t0001 a0001c0016t0005 a0001c0016t0006 a0001c0017t0001 a0001c0021t0001 a0001c0021t0002 a0001c0022t0001 a0001c0026t0001 a0001c0033t0001 a0001c0037t0021 a0001c0040t0001 a0001c0053t0001 a0001c0055t0011 a0001c0062t0001 a0004c0025t0017 a0004c0041t0007 a0005c0014t0015 a0006c0039t0009 a0007c0027t0013 a0007c0058t0025 a0010c0030t0013 a0012c0032t0024 a0014c0036t0001 a0020c0034t0023	a0001c0001t0001g0232 a0001c0001t0002g0014 a0001c0001t0005g0201 others(41): Show a0001c0001t0001g0232 a0001c0001t0002g0014 a0001c0001t0005g0201 a0001c0002t0001g0103 a0001c0002t0001g0166 a0001c0002t0001g0212 a0001c0002t0001g0218 a0001c0002t0005g0156 a0001c0004t0001g0192 a0001c0004t0001g0196 a0001c0004t0001g0207 a0001c0006t0001g0194 a0001c0006t0001g0247 a0001c0012t0001g0142 a0001c0012t0001g0234 a0001c0013t0001g0219 a0001c0013t0005g0067 a0001c0013t0006g0125 a0001c0013t0006g0189 a0001c0016t0001g0254 a0001c0016t0005g0214 a0001c0016t0006g0072 a0001c0017t0001g0228 a0001c0021t0001g0048 a0001c0021t0002g0168 a0001c0021t0002g0268 a0001c0022t0001g0090 a0001c0026t0001g0213 a0001c0033t0001g0210 a0001c0037t0021g0181 a0001c0040t0001g0249 a0001c0053t0001g0107 a0001c0055t0011g0061 a0001c0062t0001g0153 a0004c0025t0017g0155 a0004c0041t0007g0137 a0005c0014t0015g0075 a0006c0039t0009g0040 a0007c0027t0013g0229 a0007c0058t0025g0149 a0010c0030t0013g0076 a0012c0032t0024g0211 a0014c0036t0001g0231 a0020c0034t0023g0272	44	74	0.5946	-36	c.-98 others(55): Show c.-98-32152_-98-32117delTATATATATATATATATATATATATA TATATATATA	PLEKHG1	ENSG00000120278.17	transcript	ENST00000696526.1	protein_coding	2/16		INFO_REALIGN_3_PRIME	chr6	TogoVar
PLEKHG3_chr14_64699424_64755249	64716445	CACACACA others(29): Show CACACACACACACACACACACAACACACACACACACA	C C	intron_variant intron_variant	MODIFIER	NA19070.hp2 NA19070.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0070 a0001c0002t0070	a0001c0002t0070g0185 a0001c0002t0070g0185	1	246	0.0041	-36	c.-39 others(55): Show c.-39-11132_-39-11097delCACACAACACACACACACACAACACA CACACACACA	PLEKHG3	ENSG00000126822.18	transcript	ENST00000247226.13	protein_coding	1/16		INFO_REALIGN_3_PRIME	chr14	TogoVar
PLEKHG4B_chr5_87168_194966	159205	CCAGGTGT others(29): Show CCAGGTGTGCCTGAGGGTCGCCCAGGTGCACTGAGGG	C C	intron_variant intron_variant	MODIFIER	HG00280.hp2 HG00323.hp2 HG00597.hp2 others(37): Show HG00280.hp2 HG00323.hp2 HG00597.hp2 HG01081.hp2 HG01099.hp1 HG01261.hp2 HG02004.hp2 HG02109.hp2 HG02145.hp2 HG02257.hp1 HG02258.hp2 HG02280.hp1 HG02451.hp1 HG02451.hp2 HG02486.hp1 HG02486.hp2 HG02622.hp1 HG02647.hp1 HG02717.hp2 HG02809.hp1 HG02818.hp2 HG02896.hp2 HG02897.hp2 HG02922.hp2 HG03041.hp1 HG03041.hp2 HG03098.hp2 HG03195.hp2 HG03225.hp1 HG03471.hp2 HG03486.hp1 HG03579.hp2 HG04204.hp1 NA18522.hp1 NA18906.hp1 NA18906.hp2 NA18984.hp1 NA19012.hp1 NA19030.hp1 NA19043.hp2	a0006 a0008 a0009 others(15): Show a0006 a0008 a0009 a0011 a0012 a0013 a0015 a0016 a0018 a0020 a0023 a0026 a0030 a0031 a0032 a0033 a0037 a0038	a0006c0021 a0006c0068 a0006c0070 others(28): Show a0006c0021 a0006c0068 a0006c0070 a0006c0071 a0006c0072 a0006c0073 a0008c0024 a0008c0025 a0008c0079 a0009c0014 a0009c0069 a0011c0023 a0011c0078 a0012c0020 a0012c0067 a0013c0027 a0013c0065 a0013c0066 a0015c0019 a0016c0022 a0018c0076 a0018c0077 a0020c0063 a0023c0064 a0026c0080 a0030c0026 a0031c0060 a0032c0075 a0033c0081 a0037c0062 a0038c0074	a0006c0021t0018 a0006c0021t0044 a0006c0068t0047 others(34): Show a0006c0021t0018 a0006c0021t0044 a0006c0068t0047 a0006c0070t0046 a0006c0071t0018 a0006c0072t0036 a0006c0073t0020 a0008c0024t0022 a0008c0025t0011 a0008c0025t0062 a0008c0079t0061 a0009c0014t0019 a0009c0014t0041 a0009c0014t0043 a0009c0069t0019 a0011c0023t0053 a0011c0023t0054 a0011c0078t0055 a0012c0020t0011 a0012c0067t0042 a0013c0027t0052 a0013c0065t0037 a0013c0066t0051 a0015c0019t0012 a0015c0019t0021 a0016c0022t0008 a0018c0076t0060 a0018c0077t0045 a0020c0063t0021 a0023c0064t0012 a0026c0080t0050 a0030c0026t0056 a0031c0060t0020 a0032c0075t0057 a0033c0081t0058 a0037c0062t0012 a0038c0074t0035	a0006c0021t0018g0198 a0006c0021t0044g0199 a0006c0068t0047g0194 others(37): Show a0006c0021t0018g0198 a0006c0021t0044g0199 a0006c0068t0047g0194 a0006c0070t0046g0207 a0006c0071t0018g0202 a0006c0072t0036g0206 a0006c0073t0020g0193 a0008c0024t0022g0174 a0008c0024t0022g0175 a0008c0025t0011g0171 a0008c0025t0062g0173 a0008c0079t0061g0172 a0009c0014t0019g0205 a0009c0014t0041g0197 a0009c0014t0043g0201 a0009c0069t0019g0204 a0011c0023t0053g0183 a0011c0023t0054g0186 a0011c0078t0055g0184 a0012c0020t0011g0181 a0012c0020t0011g0182 a0012c0067t0042g0185 a0013c0027t0052g0170 a0013c0065t0037g0165 a0013c0066t0051g0169 a0015c0019t0012g0163 a0015c0019t0021g0190 a0016c0022t0008g0195 a0016c0022t0008g0196 a0018c0076t0060g0191 a0018c0077t0045g0180 a0020c0063t0021g0188 a0023c0064t0012g0189 a0026c0080t0050g0176 a0030c0026t0056g0168 a0031c0060t0020g0187 a0032c0075t0057g0177 a0033c0081t0058g0200 a0037c0062t0012g0164 a0038c0074t0035g0203	40	208	0.1923	-36	c.248 others(55): Show c.2487+2361_2487+2396delTGAGGGCAGGTGTGCCTGAGGGTCGC CCAGGTGCAC	PLEKHG4B	ENSG00000153404.15	transcript	ENST00000637938.2	protein_coding	11/19		INFO_REALIGN_3_PRIME	chr5	TogoVar
PLEKHS1_chr10_113746682_113788429	113785313	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01192.hp2 HG02300.hp2 HG01192.hp2 HG02300.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0003 a0001c0003t0003	a0001c0003t0003g0010 a0001c0003t0003g0102 a0001c0003t0003g0010 a0001c0003t0003g0102	2	177	0.0113	-36	c.45 others(47): Show c.4533_*4568delATATATATATATATATATATATATATATATATAT AT	PLEKHS1	ENSG00000148735.16	transcript	ENST00000694986.1	protein_coding		1885		chr10	TogoVar
PLK3_chr1_44795377_44810990	44796416	AATATATA others(29): Show AATATATAAATATATAAAGATATATAAATATATAAAG	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01123.hp1 HG01346.hp2 HG01943.hp2 others(17): Show HG01123.hp1 HG01346.hp2 HG01943.hp2 HG02080.hp2 HG02615.hp2 HG02630.hp1 HG03041.hp2 HG03225.hp1 HG03491.hp1 HG03492.hp1 HG03540.hp1 HG06807.hp2 NA18612.hp2 NA18948.hp2 NA18960.hp2 NA18979.hp2 NA18987.hp1 NA19057.hp2 NA19064.hp2 NA19080.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(2): Show a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0024	20	256	0.0781	-36	c.-40 others(47): Show c.-4047_-4012delATATATAAATATATAAAGATATATAAATATATAA AG	PLK3	ENSG00000173846.13	transcript	ENST00000372201.5	protein_coding		3960		chr1	TogoVar
PLPP3_chr1_56489761_56584563	56557024	GAAAGAGA others(29): Show GAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAA	G G	intron_variant intron_variant	MODIFIER	HG02970.hp1 HG02970.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0116 a0001c0002t0001g0116	1	304	0.0033	-36	c.140 others(55): Show c.140-19948_140-19913delTTCTCTCTCTCTCTCTCTCTCTCTCT CTCTCTCTTT	PLPP3	ENSG00000162407.9	transcript	ENST00000371250.4	protein_coding	1/5			chr1	TogoVar
PLXDC2_chr10_19811432_20294856	20014355	TTTCCTTC others(29): Show TTTCCTTCCTTCCTTCCTTCCTTCCTTGCTTCCTTCC	T T	intron_variant intron_variant	MODIFIER	HG00733.hp1 HG01109.hp2 HG01123.hp2 others(1): Show HG00733.hp1 HG01109.hp2 HG01123.hp2 HG04228.hp2	a0001 a0003 a0006 a0001 a0003 a0006	a0001c0001 a0003c0003 a0006c0007 a0001c0001 a0003c0003 a0006c0007	a0001c0001t0057 a0003c0003t0008 a0003c0003t0024 others(1): Show a0001c0001t0057 a0003c0003t0008 a0003c0003t0024 a0006c0007t0108	a0001c0001t0057g0160 a0003c0003t0008g0018 a0003c0003t0024g0047 others(1): Show a0001c0001t0057g0160 a0003c0003t0008g0018 a0003c0003t0024g0047 a0006c0007t0108g0054	4	159	0.0252	-36	c.324 others(55): Show c.324+12396_324+12431delGCTTCCTTCCTTCCTTCCTTCCTTCC TTCCTTCCTT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	2/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXDC2_chr10_19811432_20294856	20051395	AATATATA others(29): Show AATATATATATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0021 a0001c0001t0021	a0001c0001t0021g0120 a0001c0001t0021g0120	1	12	0.0833	-36	c.471 others(53): Show c.471+4393_471+4428delATATATATATATATATATATATATATAT ATATATAT	PLXDC2	ENSG00000120594.17	transcript	ENST00000377252.5	protein_coding	3/13		INFO_REALIGN_3_PRIME	chr10	TogoVar
PLXNA4_chr7_132118340_132581470	132576968	GGCGGCCG others(29): Show GGCGGCCGCCCCCCGGCAGCCCGCGGCCGGCCGCGCC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03139.hp1 HG03139.hp1	a0001 a0001	a0001c0037 a0001c0037	a0001c0037t0003 a0001c0037t0003	a0001c0037t0003g0080 a0001c0037t0003g0080	1	86	0.0116	-36	c.-66 others(45): Show c.-669_-634delGGCGCGGCCGGCCGCGGGCTGCCGGGGGGCGGCCGC	PLXNA4	ENSG00000221866.10	transcript	ENST00000321063.9	protein_coding		499		chr7	TogoVar
PMM1_chr22_41571900_41594840	41594362	GGGGTGGG others(29): Show GGGGTGGGGGAGGCGGTGGGGGGGTGGGGGTGGGGGC	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00280.hp2 HG00323.hp1 HG00597.hp1 others(60): Show HG00280.hp2 HG00323.hp1 HG00597.hp1 HG00609.hp1 HG00621.hp1 HG00639.hp2 HG00735.hp1 HG00738.hp2 HG00741.hp1 HG01070.hp2 HG01099.hp2 HG01106.hp2 HG01109.hp2 HG01123.hp1 HG01123.hp2 HG01167.hp2 HG01175.hp2 HG01257.hp1 HG01258.hp1 HG01261.hp1 HG01346.hp2 HG01358.hp2 HG01975.hp1 HG01975.hp2 HG01981.hp1 HG02004.hp1 HG02027.hp2 HG02071.hp2 HG02148.hp2 HG02293.hp1 HG02300.hp2 HG02602.hp1 HG02683.hp2 HG02735.hp1 HG02735.hp2 HG02965.hp1 HG02970.hp1 HG03130.hp2 HG03453.hp2 HG03490.hp1 HG03492.hp1 HG03492.hp2 HG03704.hp2 HG03710.hp1 HG03942.hp2 HG04184.hp2 HG04199.hp2 HG04228.hp2 HG06807.hp1 HG06807.hp2 NA18522.hp1 NA18747.hp2 NA18969.hp2 NA18975.hp2 NA18982.hp1 NA18992.hp1 NA19000.hp1 NA19074.hp2 NA19083.hp2 NA19087.hp1 NA19240.hp1 NA20129.hp1 NA20805.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0011 others(18): Show a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0016 a0001c0001t0001g0024 a0001c0001t0001g0028 a0001c0001t0001g0058 a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0104 a0001c0001t0001g0120 a0001c0001t0001g0140 a0001c0001t0001g0141 a0002c0002t0001g0033	63	324	0.1944	-36	c.-45 others(47): Show c.-4593_-4558delGCCCCCACCCCCACCCCCCCACCGCCTCCCCCAC CC	PMM1	ENSG00000100417.12	transcript	ENST00000216259.8	protein_coding		4523		chr22	TogoVar
PMS1_chr2_189779450_189882629	189864675	AAAAAAAA others(29): Show AAAAAAAAAAAAAATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	NA21309.hp1 NA21309.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0027 a0001c0001t0001g0027	1	232	0.0043	-36	c.234 others(53): Show c.2342+449_2342+484delAAAAAAAAAAAATATATATATATATATA TATATATA	PMS1	ENSG00000064933.19	transcript	ENST00000441310.7	protein_coding	10/12		INFO_REALIGN_3_PRIME	chr2	TogoVar
PNKP_chr19_49856204_49872576	49866765	ATCATTTT others(29): Show ATCATTTTTCTCTTGACGAAGGTCGTCGCCTGTTTCT	A A	intron_variant intron_variant	MODIFIER	HG03195.hp2 HG03195.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0086 a0001c0001t0001g0086	1	428	0.0023	-36	c.151 others(51): Show c.151+253_151+288delAGAAACAGGCGACGACCTTCGTCAAGAGAA AAATGA	PNKP	ENSG00000039650.12	transcript	ENST00000322344.8	protein_coding	2/16			chr19	TogoVar
PNLDC1_chr6_159795276_159825704	159822339	GCTCTCCC others(29): Show GCTCTCCCCGCTCCCCTAGCTCTTCAAGGCTGTGTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00558.hp1 HG00558.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0217 a0001c0002t0001g0217	1	398	0.0025	-36	c.18 others(47): Show c.1823_*1858delCTCTCCCCGCTCCCCTAGCTCTTCAAGGCTGTGT TT	PNLDC1	ENSG00000146453.13	transcript	ENST00000392167.4	protein_coding		1636		chr6	TogoVar
PNPLA8_chr7_108465417_108531135	108505324	ATATATAT others(29): Show ATATATATATATATATATATATATATATATTTTTTTT	A A	intron_variant intron_variant	MODIFIER	HG02723.hp1 HG02723.hp1	a0005 a0005	a0005c0010 a0005c0010	a0005c0010t0016 a0005c0010t0016	a0005c0010t0016g0150 a0005c0010t0016g0150	1	388	0.0026	-36	c.120 others(55): Show c.1207-2718_1207-2683delAAAAAAAATATATATATATATATATA TATATATATA	PNPLA8	ENSG00000135241.17	transcript	ENST00000257694.13	protein_coding	4/10			chr7	TogoVar
POC1B_chr12_89414718_89531047	89476727	TAGATAGA others(29): Show TAGATAGATAGATAGATAGATAGATAGATAGATAGAC	T T	intron_variant intron_variant	MODIFIER	NA19087.hp1 NA19087.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0165 a0001c0001t0002g0165	1	368	0.0027	-36	c.453 others(53): Show c.453-4488_453-4453delGTCTATCTATCTATCTATCTATCTATCT ATCTATCT	POC1B	ENSG00000139323.14	transcript	ENST00000313546.8	protein_coding	4/11			chr12	TogoVar
POFUT2_chr21_45258935_45292895	45287327	AGCCCCTG others(29): Show AGCCCCTGCCCCGCCCCCATCCCATCCCATCACCCTG	A A	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0251 a0001c0001t0002g0251	1	434	0.0023	-36	c.131 others(51): Show c.131+378_131+413delCAGGGTGATGGGATGGGATGGGGGCGGGGC AGGGGC	POFUT2	ENSG00000186866.17	transcript	ENST00000349485.10	protein_coding	1/8			chr21	TogoVar
POLR2G_chr11_62756580_62771710	62757073	CATATATA others(29): Show CATATATATATATATATATATATATATATATATATAT	C C	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp1 HG00423.hp1 HG00438.hp2 others(89): Show HG00408.hp1 HG00423.hp1 HG00438.hp2 HG00558.hp1 HG00597.hp1 HG00642.hp1 HG00673.hp1 HG00735.hp2 HG00741.hp2 HG01069.hp2 HG01070.hp1 HG01071.hp2 HG01074.hp2 HG01099.hp2 HG01167.hp1 HG01167.hp2 HG01168.hp2 HG01175.hp1 HG01192.hp1 HG01255.hp1 HG01261.hp1 HG01346.hp1 HG01358.hp2 HG01361.hp2 HG01891.hp2 HG01928.hp2 HG01934.hp2 HG01952.hp1 HG01975.hp1 HG01981.hp2 HG02004.hp1 HG02040.hp2 HG02071.hp1 HG02071.hp2 HG02074.hp1 HG02083.hp1 HG02083.hp2 HG02129.hp2 HG02132.hp1 HG02135.hp1 HG02293.hp2 HG02523.hp1 HG02647.hp1 HG02683.hp2 HG02723.hp1 HG02735.hp2 HG02896.hp1 HG02897.hp2 HG03130.hp2 HG03239.hp2 HG03704.hp2 HG03834.hp1 HG03942.hp1 HG04115.hp1 HG04204.hp1 HG04228.hp2 NA18747.hp1 NA18948.hp2 NA18954.hp2 NA18956.hp1 NA18959.hp2 NA18960.hp1 NA18963.hp2 NA18971.hp1 NA18971.hp2 NA18973.hp2 NA18976.hp2 NA18978.hp2 NA18979.hp1 NA18983.hp2 NA18998.hp1 NA19004.hp2 NA19005.hp2 NA19007.hp1 NA19007.hp2 NA19010.hp1 NA19011.hp2 NA19043.hp2 NA19054.hp2 NA19056.hp2 NA19060.hp1 NA19062.hp2 NA19065.hp1 NA19070.hp1 NA19070.hp2 NA19079.hp1 NA19080.hp2 NA19084.hp2 NA19089.hp2 NA19090.hp1 NA20129.hp2 NA20752.hp2	a0001 a0002 a0001 a0002	a0001c0001 a0002c0002 a0001c0001 a0002c0002	a0001c0001t0001 a0002c0002t0001 a0001c0001t0001 a0002c0002t0001	a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(13): Show a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0022 a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0050 a0001c0001t0001g0051 a0001c0001t0001g0053 a0001c0001t0001g0054 a0002c0002t0001g0004	92	121	0.7603	-36	c.-45 others(47): Show c.-4575_-4540delATATATATATATATATATATATATATATATATAT AT	POLR2G	ENSG00000168002.12	transcript	ENST00000301788.12	protein_coding		4506		chr11	TogoVar
POLRMT_chr19_612221_638537	613608	CGGGGATG others(29): Show CGGGGATGGGGATGGGGATGGGGATGGGGCCGGGGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00597.hp2 HG01255.hp2 HG02735.hp1 others(12): Show HG00597.hp2 HG01255.hp2 HG02735.hp1 HG03491.hp2 HG03492.hp2 NA18941.hp1 NA18944.hp2 NA18948.hp1 NA18951.hp2 NA18956.hp2 NA18967.hp1 NA18979.hp1 NA18989.hp2 NA19084.hp1 NA19091.hp2	a0003 a0017 a0003 a0017	a0003c0002 a0003c0019 a0017c0032 a0003c0002 a0003c0019 a0017c0032	a0003c0002t0002 a0003c0002t0004 a0003c0002t0009 others(2): Show a0003c0002t0002 a0003c0002t0004 a0003c0002t0009 a0003c0019t0004 a0017c0032t0009	a0003c0002t0002g0247 a0003c0002t0004g0007 a0003c0002t0004g0121 others(9): Show a0003c0002t0002g0247 a0003c0002t0004g0007 a0003c0002t0004g0121 a0003c0002t0004g0131 a0003c0002t0004g0133 a0003c0002t0004g0134 a0003c0002t0004g0148 a0003c0002t0004g0149 a0003c0002t0009g0164 a0003c0019t0004g0023 a0003c0019t0004g0128 a0017c0032t0009g0163	15	373	0.0402	-36	c.36 others(47): Show c.3630_*3665delATCCCCGGCCCCATCCCCATCCCCATCCCCATCC CC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		3612		chr19	TogoVar
POLRMT_chr19_612221_638537	613638	CGGGGATG others(29): Show CGGGGATGGGGATGGGGATGGGGCCGGGGATGGGGAT	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02809.hp2 NA19043.hp1 HG02809.hp2 NA19043.hp1	a0006 a0006	a0006c0008 a0006c0008	a0006c0008t0003 a0006c0008t0003	a0006c0008t0003g0321 a0006c0008t0003g0323 a0006c0008t0003g0321 a0006c0008t0003g0323	2	370	0.0054	-36	c.36 others(47): Show c.3600_*3635delATCCCCATCCCCGGCCCCATCCCCATCCCCATCC CC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		3582		chr19	TogoVar
POLRMT_chr19_612221_638537	613644	TGGGGATG others(29): Show TGGGGATGGGGATGGGGCCGGGGATGGGGATGGGGCC	T T	downstream_gene_variant downstream_gene_variant	MODIFIER	HG02451.hp2 HG02602.hp1 HG02965.hp2 others(10): Show HG02451.hp2 HG02602.hp1 HG02965.hp2 HG03098.hp1 HG03130.hp2 HG03225.hp1 HG03453.hp1 HG03453.hp2 HG03688.hp1 NA18522.hp2 NA18906.hp2 NA18944.hp1 NA18982.hp1	a0002 a0004 a0010 others(1): Show a0002 a0004 a0010 a0025	a0002c0003 a0002c0025 a0004c0004 others(4): Show a0002c0003 a0002c0025 a0004c0004 a0004c0012 a0010c0015 a0010c0050 a0025c0065	a0002c0003t0003 a0002c0025t0002 a0004c0004t0002 others(5): Show a0002c0003t0003 a0002c0025t0002 a0004c0004t0002 a0004c0012t0002 a0004c0012t0004 a0010c0015t0002 a0010c0050t0002 a0025c0065t0003	a0002c0003t0003g0014 a0002c0025t0002g0231 a0004c0004t0002g0169 others(8): Show a0002c0003t0003g0014 a0002c0025t0002g0231 a0004c0004t0002g0169 a0004c0004t0002g0192 a0004c0012t0002g0197 a0004c0012t0002g0198 a0004c0012t0004g0158 a0004c0012t0004g0159 a0010c0015t0002g0013 a0010c0050t0002g0215 a0025c0065t0003g0292	13	418	0.0311	-36	c.35 others(47): Show c.3594_*3629delGGCCCCATCCCCATCCCCGGCCCCATCCCCATCC CC	POLRMT	ENSG00000099821.14	transcript	ENST00000588649.7	protein_coding		3576		chr19	TogoVar
POMGNT2_chr3_43074234_43111079	43109092	GCAGACAC others(29): Show GCAGACACTGATCATCTTTGAGTCCATCATGTTTTGA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03834.hp2 HG03834.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0002 a0001c0001t0002	a0001c0001t0002g0006 a0001c0001t0002g0006	1	376	0.0027	-36	c.-33 others(47): Show c.-3398_-3363delTCAAAACATGATGGACTCAAAGATGATCAGTGTC TG	POMGNT2	ENSG00000144647.7	transcript	ENST00000344697.3	protein_coding		3014		chr3	TogoVar
POPDC3_chr6_105152900_105185014	105181171	GTGTGTGT others(29): Show GTGTGTGTGTGTGTGTATATATATGTATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG00408.hp2 HG01070.hp1 HG01071.hp1 others(15): Show HG00408.hp2 HG01070.hp1 HG01071.hp1 HG01884.hp1 HG02109.hp1 HG02683.hp1 HG02723.hp2 HG02886.hp1 HG02965.hp1 HG03041.hp2 HG03209.hp2 HG03471.hp1 HG03540.hp1 HG03927.hp2 NA18961.hp1 NA18971.hp1 NA18991.hp2 NA19002.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0014 a0001c0001t0003 a0001c0001t0014	a0001c0001t0003g0008 a0001c0001t0003g0019 a0001c0001t0003g0020 others(9): Show a0001c0001t0003g0008 a0001c0001t0003g0019 a0001c0001t0003g0020 a0001c0001t0003g0021 a0001c0001t0003g0041 a0001c0001t0003g0042 a0001c0001t0003g0044 a0001c0001t0003g0045 a0001c0001t0003g0046 a0001c0001t0003g0047 a0001c0001t0003g0048 a0001c0001t0014g0040	18	244	0.0738	-36	c.-16 others(47): Show c.-1626_-1591delTATATATATATACATATATATACACACACACACA CA	POPDC3	ENSG00000132429.10	transcript	ENST00000254765.4	protein_coding		1158		chr6	TogoVar
POR_chr7_75910155_75991855	75988751	GGGGCTGG others(29): Show GGGGCTGGAGGGGAAGAAGGCCGGGTGGGGGGCTGGA	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA19030.hp2 NA19043.hp2 NA19030.hp2 NA19043.hp2	a0001 a0001	a0001c0003 a0001c0003	a0001c0003t0001 a0001c0003t0001	a0001c0003t0001g0096 a0001c0003t0001g0097 a0001c0003t0001g0096 a0001c0003t0001g0097	2	276	0.0072	-36	c.22 others(47): Show c.2271_*2306delGGGCTGGAGGGGAAGAAGGCCGGGTGGGGGGCTG GA	POR	ENSG00000127948.17	transcript	ENST00000461988.6	protein_coding		1897		chr7	TogoVar
POTEB3_chr15_21400401_21445499	21413522	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATGTATG	A A	intron_variant intron_variant	MODIFIER	HG00438.hp1 HG00597.hp2 HG01081.hp1 others(6): Show HG00438.hp1 HG00597.hp2 HG01081.hp1 HG02145.hp2 HG03195.hp2 HG03704.hp2 NA19043.hp2 NA19068.hp1 NA21309.hp1	a0001 a0003 a0001 a0003	a0001c0001 a0003c0002 a0001c0001 a0003c0002	a0001c0001t0001 a0001c0001t0006 a0003c0002t0008 others(5): Show a0001c0001t0001 a0001c0001t0006 a0003c0002t0008 a0003c0002t0009 a0003c0002t0010 a0003c0002t0011 a0003c0002t0012 a0003c0002t0023	a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0006g0024 others(6): Show a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0006g0024 a0003c0002t0008g0007 a0003c0002t0009g0012 a0003c0002t0010g0008 a0003c0002t0011g0006 a0003c0002t0012g0009 a0003c0002t0023g0035	9	50	0.1800	-36	c.141 others(55): Show c.1410-2557_1410-2522delCATACATATATATATATATATATATA TATATATATA	POTEB3	ENSG00000278522.5	transcript	ENST00000611217.5	protein_coding	9/10			chr15	TogoVar
POTEI_chr2_130454455_130514328	130507287	TATATATA others(29): Show TATATATATATATATATATATATATATATATACACAC	T T	intron_variant intron_variant	MODIFIER	HG02717.hp2 HG02717.hp2	a0015 a0015	a0015c0032 a0015c0032	a0015c0032t0011 a0015c0032t0011	a0015c0032t0011g0118 a0015c0032t0011g0118	1	124	0.0081	-36	c.521 others(53): Show c.521+1392_521+1427delGTGTGTATATATATATATATATATATAT ATATATAT	POTEI	ENSG00000196834.14	transcript	ENST00000451531.7	protein_coding	1/14			chr2	TogoVar
POTEJ_chr2_130606440_130663037	130613255	CACATATA others(29): Show CACATATATACATATATATACATATGTATATATACAT	C C	intron_variant intron_variant	MODIFIER	HG02886.hp1 HG02886.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0105 a0001c0001t0001g0105	1	126	0.0079	-36	c.410 others(53): Show c.410+1315_410+1350delCATATATACATATATATACATATGTATA TATACATA	POTEJ	ENSG00000222038.4	transcript	ENST00000409602.2	protein_coding	1/14		INFO_REALIGN_3_PRIME	chr2	TogoVar
POU2AF1_chr11_111347255_111384275	111352963	GAGGAAGG others(29): Show GAGGAAGGAAGGAAGGAAGGAAGGAAGGAAAGAAGGA	G G	3_prime_UTR_variant 3_prime_UTR_variant	MODIFIER	HG01192.hp2 HG01361.hp2 HG02074.hp2 others(27): Show HG01192.hp2 HG01361.hp2 HG02074.hp2 HG02135.hp1 HG02135.hp2 HG02155.hp2 HG02723.hp1 HG02723.hp2 HG02818.hp2 HG02886.hp1 HG02922.hp1 HG03130.hp1 HG03471.hp1 HG03688.hp1 NA18522.hp1 NA18944.hp2 NA18948.hp2 NA18951.hp1 NA18964.hp2 NA18977.hp2 NA18988.hp1 NA18990.hp2 NA19043.hp1 NA19043.hp2 NA19060.hp2 NA19077.hp2 NA19079.hp1 NA20300.hp2 NA21309.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0002 a0001c0001 a0001c0002	a0001c0001t0004 a0001c0001t0011 a0001c0001t0031 others(2): Show a0001c0001t0004 a0001c0001t0011 a0001c0001t0031 a0001c0001t0043 a0001c0002t0004	a0001c0001t0004g0002 a0001c0001t0004g0058 a0001c0001t0004g0070 others(22): Show a0001c0001t0004g0002 a0001c0001t0004g0058 a0001c0001t0004g0070 a0001c0001t0004g0071 a0001c0001t0004g0102 a0001c0001t0004g0103 a0001c0001t0004g0117 a0001c0001t0004g0124 a0001c0001t0004g0125 a0001c0001t0004g0128 a0001c0001t0004g0129 a0001c0001t0004g0130 a0001c0001t0004g0137 a0001c0001t0004g0140 a0001c0001t0004g0142 a0001c0001t0004g0144 a0001c0001t0004g0180 a0001c0001t0004g0197 a0001c0001t0011g0162 a0001c0001t0011g0287 a0001c0001t0011g0298 a0001c0001t0011g0299 a0001c0001t0031g0187 a0001c0001t0043g0171 a0001c0002t0004g0068	30	274	0.1095	-36	c.12 others(47): Show c.1262_*1297delTCCTTCTTTCCTTCCTTCCTTCCTTCCTTCCTTC CT	POU2AF1	ENSG00000110777.12	transcript	ENST00000393067.8	protein_coding	5/5	1262		chr11	TogoVar
POU2AF2_chr11_111240725_111291401	111264491	CGAAAGAA others(29): Show CGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	C C	intron_variant intron_variant	MODIFIER	NA19062.hp1 NA19062.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0003	a0001c0001t0003g0211 a0001c0001t0003g0211	1	274	0.0036	-36	c.120 others(53): Show c.120+8449_120+8484delAAAGAAAGAAAGAAAGAAAGAAAGAAAG AAAGAAAG	POU2AF2	ENSG00000150750.9	transcript	ENST00000280325.7	protein_coding	2/4		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2F3_chr11_120235140_120324945	120274084	AAAGAAAG others(29): Show AAAGAAAGGAAGGAAGGAAGGAAGAAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00639.hp1 HG00741.hp1 HG01070.hp1 others(27): Show HG00639.hp1 HG00741.hp1 HG01070.hp1 HG01074.hp2 HG01081.hp2 HG01243.hp1 HG01243.hp2 HG01256.hp1 HG01258.hp2 HG01496.hp1 HG01952.hp1 HG02071.hp2 HG02273.hp1 HG02273.hp2 HG02572.hp1 HG02738.hp2 HG03239.hp2 HG03654.hp1 HG03669.hp2 HG03834.hp2 HG04204.hp1 HG06807.hp1 NA18941.hp2 NA18942.hp2 NA18985.hp2 NA18986.hp2 NA19055.hp2 NA19066.hp2 NA20129.hp1 NA20805.hp1	a0001 a0002 a0003 a0001 a0002 a0003	a0001c0001 a0002c0002 a0003c0003 a0001c0001 a0002c0002 a0003c0003	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(10): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0006 a0001c0001t0012 a0001c0001t0014 a0001c0001t0019 a0001c0001t0022 a0002c0002t0001 a0002c0002t0003 a0003c0003t0004 a0003c0003t0011 a0003c0003t0017	a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0031 others(27): Show a0001c0001t0001g0009 a0001c0001t0001g0022 a0001c0001t0001g0031 a0001c0001t0001g0046 a0001c0001t0001g0092 a0001c0001t0001g0136 a0001c0001t0001g0170 a0001c0001t0001g0187 a0001c0001t0001g0212 a0001c0001t0002g0045 a0001c0001t0002g0083 a0001c0001t0002g0188 a0001c0001t0002g0232 a0001c0001t0003g0287 a0001c0001t0006g0307 a0001c0001t0006g0308 a0001c0001t0012g0074 a0001c0001t0012g0075 a0001c0001t0014g0191 a0001c0001t0019g0073 a0001c0001t0022g0264 a0002c0002t0001g0049 a0002c0002t0001g0129 a0002c0002t0003g0055 a0002c0002t0003g0306 a0003c0003t0004g0025 a0003c0003t0004g0169 a0003c0003t0011g0273 a0003c0003t0011g0292 a0003c0003t0017g0253	30	308	0.0974	-36	c.132 others(53): Show c.132+4844_132+4879delAAAGGAAGGAAGGAAGGAAGAAAGGAAG GAAGGAAG	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU2F3_chr11_120235140_120324945	120274088	AAAGGAAG others(29): Show AAAGGAAGGAAGGAAGGAAGAAAGGAAGGAAGGAAGG	A A	intron_variant intron_variant	MODIFIER	HG00597.hp2 HG01109.hp2 HG01358.hp1 others(13): Show HG00597.hp2 HG01109.hp2 HG01358.hp1 HG01978.hp1 HG01981.hp2 HG02027.hp2 HG02074.hp2 HG02080.hp1 HG02148.hp2 HG03017.hp2 NA18612.hp2 NA18943.hp1 NA18963.hp2 NA18979.hp1 NA18983.hp1 NA18997.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 others(2): Show a0001c0001t0001 a0001c0001t0002 a0001c0001t0003 a0001c0001t0007 a0001c0001t0029	a0001c0001t0001g0030 a0001c0001t0001g0069 a0001c0001t0001g0105 others(13): Show a0001c0001t0001g0030 a0001c0001t0001g0069 a0001c0001t0001g0105 a0001c0001t0001g0111 a0001c0001t0001g0135 a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0153 a0001c0001t0001g0154 a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0002g0164 a0001c0001t0002g0167 a0001c0001t0003g0311 a0001c0001t0007g0052 a0001c0001t0029g0109	16	314	0.0510	-36	c.132 others(53): Show c.132+4864_132+4899delAAAGGAAGGAAGGAAGGAAGGAAGGAAG GAAGGAAG	POU2F3	ENSG00000137709.10	transcript	ENST00000543440.7	protein_coding	3/12		INFO_REALIGN_3_PRIME	chr11	TogoVar
POU6F2_chr7_38972909_39473601	39454655	GATATATA others(29): Show GATATATATATATATATATATATATATATATATATAT	G G	intron_variant intron_variant	MODIFIER	HG02451.hp2 HG02630.hp1 HG02976.hp1 others(6): Show HG02451.hp2 HG02630.hp1 HG02976.hp1 HG03195.hp1 HG03486.hp1 HG03516.hp1 NA18522.hp2 NA19240.hp2 NA20300.hp1	a0001 a0002 a0004 a0001 a0002 a0004	a0001c0002 a0001c0005 a0002c0008 others(1): Show a0001c0002 a0001c0005 a0002c0008 a0004c0016	a0001c0002t0001 a0001c0005t0001 a0002c0008t0001 others(1): Show a0001c0002t0001 a0001c0005t0001 a0002c0008t0001 a0004c0016t0001	a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 others(6): Show a0001c0002t0001g0089 a0001c0002t0001g0090 a0001c0002t0001g0091 a0001c0005t0001g0002 a0001c0005t0001g0005 a0001c0005t0001g0061 a0001c0005t0001g0138 a0002c0008t0001g0109 a0004c0016t0001g0092	9	15	0.6000	-36	c.148 others(55): Show c.1489+2992_1489+3027delTATATATATATATATATATATATATA TATATATATA	POU6F2	ENSG00000106536.21	transcript	ENST00000518318.7	protein_coding	8/9		INFO_REALIGN_3_PRIME	chr7	TogoVar
PPARA_chr22_46145526_46248755	46185908	AAAAAAAA others(29): Show AAAAAAAAAATATATATATATATATATATATATATAT	A A	intron_variant intron_variant	MODIFIER	HG02559.hp1 HG02886.hp1 HG03139.hp1 HG02559.hp1 HG02886.hp1 HG03139.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0003 a0001c0001t0013 a0001c0001t0003 a0001c0001t0013	a0001c0001t0003g0053 a0001c0001t0003g0060 a0001c0001t0013g0114 a0001c0001t0003g0053 a0001c0001t0003g0060 a0001c0001t0013g0114	3	198	0.0152	-36	c.-43 others(53): Show c.-43+9074_-43+9109delAAAAAAAATATATATATATATATATATA TATATATA	PPARA	ENSG00000186951.17	transcript	ENST00000407236.6	protein_coding	3/8		INFO_REALIGN_3_PRIME	chr22	TogoVar
PPHLN1_chr12_42321167_42447181	42378090	CTCTTTCT others(29): Show CTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTT	C C	intron_variant intron_variant	MODIFIER	HG01167.hp1 HG02109.hp1 NA19240.hp1 others(1): Show HG01167.hp1 HG02109.hp1 NA19240.hp1 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 others(1): Show a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0119 a0001c0001t0001g0120	4	73	0.0548	-36	c.511 others(53): Show c.511+3043_511+3078delTTTCTTTCTTTCTTTCTTTCTTTCTTTC TTTCTTTC	PPHLN1	ENSG00000134283.18	transcript	ENST00000358314.12	protein_coding	5/9		INFO_REALIGN_3_PRIME	chr12	TogoVar
PPHLN1_chr12_42321167_42447181	42446057	ACCCTGCA others(29): Show ACCCTGCAGGCCCCGCAGCCCCCGCAGGCCCCGCAGC	A A	downstream_gene_variant downstream_gene_variant	MODIFIER	HG04199.hp1 HG04199.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0347 a0001c0001t0001g0347	1	374	0.0027	-36	c.45 others(47): Show c.4549_*4584delCCCTGCAGGCCCCGCAGCCCCCGCAGGCCCCGCA GC	PPHLN1	ENSG00000134283.18	transcript	ENST00000358314.12	protein_coding		3877		chr12	TogoVar
PPIAL4H_chr1_146339006_146349765	146345018	ATTTCTTT others(29): Show ATTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTC	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01496.hp1 HG01496.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	98	0.0102	-36	c.-33 others(45): Show c.-339_-304delGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAAGAAA	PPIAL4H	ENSG00000270339.4	transcript	ENST00000584068.4	protein_coding		254		chr1	TogoVar
PPM1A_chr14_60244221_60304087	60249566	AGCGGTGA others(29): Show AGCGGTGACCCCTCCCCCGGCTGCCGCCGTCGCCGCC	A A	5_prime_UTR_variant 5_prime_UTR_variant	MODIFIER	HG02572.hp2 HG02572.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0034 a0001c0001t0034	a0001c0001t0034g0067 a0001c0001t0034g0067	1	266	0.0038	-36	c.-12 others(44): Show c.-120_-85delTCCCCCGGCTGCCGCCGTCGCCGCCGCGGTGACCCC	PPM1A	ENSG00000100614.18	transcript	ENST00000395076.9	protein_coding	1/6	33091	INFO_REALIGN_3_PRIME	chr14	TogoVar
PPM1E_chr17_58750854_58990179	58816760	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATATT	A A	intron_variant intron_variant	MODIFIER	HG06807.hp1 HG06807.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0005 a0001c0001t0005	a0001c0001t0005g0211 a0001c0001t0005g0211	1	310	0.0032	-36	c.464 others(55): Show c.464+60301_464+60336delATATATATATATATATATATATATAT ATATATATTT	PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PPM1E_chr17_58750854_58990179	58816762	ATATATAT others(29): Show ATATATATATATATATATATATATATATATATATTTT	A A	intron_variant intron_variant	MODIFIER	NA18522.hp1 NA18522.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0125 a0001c0001t0001g0125	1	296	0.0034	-36	c.464 others(55): Show c.464+60303_464+60338delATATATATATATATATATATATATAT ATATATTTTT	PPM1E	ENSG00000175175.6	transcript	ENST00000308249.4	protein_coding	1/6		INFO_REALIGN_3_PRIME	chr17	TogoVar
PPM1J_chr1_112704998_112720332	112706454	CACACACA others(29): Show CACACACACACCACACACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG00673.hp2 HG02080.hp2 HG02109.hp1 others(19): Show HG00673.hp2 HG02080.hp2 HG02109.hp1 HG02109.hp2 HG02572.hp2 HG02717.hp1 HG02723.hp1 NA18612.hp1 NA18747.hp1 NA18943.hp2 NA18944.hp1 NA18949.hp1 NA18950.hp1 NA18977.hp1 NA18984.hp1 NA19011.hp1 NA19043.hp1 NA19058.hp1 NA19064.hp2 NA19080.hp2 NA20300.hp2 NA21309.hp2	a0001 a0005 a0014 a0001 a0005 a0014	a0001c0001 a0005c0004 a0014c0013 a0001c0001 a0005c0004 a0014c0013	a0001c0001t0001 a0005c0004t0001 a0014c0013t0001 a0001c0001t0001 a0005c0004t0001 a0014c0013t0001	a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(7): Show a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0017 a0001c0001t0001g0039 a0005c0004t0001g0018 a0005c0004t0001g0041 a0014c0013t0001g0089	22	242	0.0909	-36	c.36 others(47): Show c.3673_*3708delTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGTGT GT	PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding		3543		chr1	TogoVar
PPM1J_chr1_112704998_112720332	112706456	CACACACA others(29): Show CACACACACCACACACACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG03927.hp2 HG03927.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0001 a0001c0001t0001g0001	1	404	0.0025	-36	c.36 others(47): Show c.3671_*3706delTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGTGT GT	PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding		3541		chr1	TogoVar
PPM1J_chr1_112704998_112720332	112706460	CACACCAC others(29): Show CACACCACACACACACACACACACACACACACACACA	C C	downstream_gene_variant downstream_gene_variant	MODIFIER	HG01123.hp1 HG01123.hp1	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0002 a0001c0001t0001g0002	1	418	0.0024	-36	c.36 others(47): Show c.3667_*3702delTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGT GT	PPM1J	ENSG00000155367.16	transcript	ENST00000309276.11	protein_coding		3537		chr1	TogoVar
PPP1R12A_chr12_79768568_79940097	79843611	AATATAGA others(29): Show AATATAGATATAGATATAGATATAGATATAGATATAG	A A	intron_variant intron_variant	MODIFIER	HG02109.hp2 HG02486.hp1 HG02886.hp2 others(1): Show HG02109.hp2 HG02486.hp1 HG02886.hp2 HG03130.hp1	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0006 a0001c0002t0006	a0001c0002t0006g0007 a0001c0002t0006g0034 a0001c0002t0006g0048 others(1): Show a0001c0002t0006g0007 a0001c0002t0006g0034 a0001c0002t0006g0048 a0001c0002t0006g0049	4	72	0.0556	-36	c.487 others(53): Show c.487+1655_487+1690delCTATATCTATATCTATATCTATATCTAT ATCTATAT	PPP1R12A	ENSG00000058272.19	transcript	ENST00000450142.7	protein_coding	3/24			chr12	TogoVar
PPP1R14A_chr19_38246237_38261374	38259633	ATATATAT others(29): Show ATATATATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	A A	upstream_gene_variant upstream_gene_variant	MODIFIER	HG03579.hp1 NA21309.hp2 HG03579.hp1 NA21309.hp2	a0001 a0001	a0001c0002 a0001c0002	a0001c0002t0001 a0001c0002t0001	a0001c0002t0001g0023 a0001c0002t0001g0023	2	422	0.0047	-36	c.-33 others(47): Show c.-3330_-3295delAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATATA TA	PPP1R14A	ENSG00000167641.11	transcript	ENST00000301242.9	protein_coding		3260		chr19	TogoVar
PPP1R2B_chr5_156845295_156857528	156857096	GTTTTTTT others(29): Show GTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	G G	downstream_gene_variant downstream_gene_variant	MODIFIER	NA21309.hp2 NA21309.hp2	a0001 a0001	a0001c0001 a0001c0001	a0001c0001t0001 a0001c0001t0001	a0001c0001t0001g0000 a0001c0001t0001g0000	1	23	0.0435	-36	c.59 others(47): Show c.5917_*5952delTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT TT	PPP1R2B	ENSG00000231989.5	transcript	ENST00000522232.3	protein_coding		4569		chr5	TogoVar
PPP2R1A_chr19_52185052_52234518	52186590	GTATGTAT others(29): Show GTATGTATATATATATATATATATATATATATATATA	G G	upstream_gene_variant upstream_gene_variant	MODIFIER	HG01243.hp1 HG01884.hp2 HG02258.hp2 others(7): Show HG01243.hp1 HG01884.hp2 HG02258.hp2 HG02280.hp1 HG02717.hp1 HG03017.hp1 HG03486.hp1 HG03834.hp1 NA18906.hp1 NA19043.hp2	a0001 a0001	a0001c0001 a0001c0003 a0001c0001 a0001c0003	a0001c0001t0001 a0001c0003t0001 a0001c0003t0006 a0001c0001t0001 a0001c0003t0001 a0001c0003t0006	a0001c0001t0001g0048 a0001c0001t0001g0290 a0001c0003t0001g0138 others(5): Show a0001c0001t0001g0048 a0001c0001t0001g0290 a0001c0003t0001g0138 a0001c0003t0006g0049 a0001c0003t0006g0288 a0001c0003t0006g0289 a0001c0003t0006g0293 a0001c0003t0006g0294	10	270	0.0370	-36	c.-35 others(47): Show c.-3506_-3471delTATGTATATATATATATATATATATATATATATA TA	PPP2R1A	ENSG00000105568.19	transcript	ENST00000322088.11	protein_coding		3461		chr19	TogoVar

Search by Variant

Search

Search Results