regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHF21A_chr11_45924319_46126454 | 45964200 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG00735.hp1 others(73): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0216a0001c0001t0001g0245a0001c0001t0002g0057others(73): Show | 76 | 280 | 0.2714 | 9 | c.996 others(26): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 10/18 | chr11 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 45971890 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02080.hp1 HG02559.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0004g0139a0001c0001t0004g0140a0001c0001t0004g0141others(18): Show | 21 | 280 | 0.0750 | 9 | c.361 others(24): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 7/18 | chr11 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 45974418 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02486.hp2 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012a0001c0001t0022 | a0001c0001t0005g0259a0001c0001t0012g0260a0001c0001t0012g0261others(3): Show | 6 | 280 | 0.0214 | 9 | c.361 others(26): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 7/18 | chr11 | TogoVar | ||||||
PHF21B_chr22_44876162_45015005 | 44896880 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(88): Show |
a0001a0002a0005 | a0001c0001a0001c0006a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(17): Show | a0001c0001t0001g0032a0001c0001t0001g0040a0001c0001t0001g0042others(88): Show | 91 | 300 | 0.3033 | 9 | c.832 others(24): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 5/12 | chr22 | TogoVar | ||||||
PHF21B_chr22_44876162_45015005 | 44902529 | T | TCTTCTGC others(2): Show |
intron_variant | MODIFIER | HG03516.hp1 HG03540.hp1 NA18522.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0094a0001c0002t0002g0231a0001c0002t0002g0233 | 3 | 300 | 0.0100 | 9 | c.832 others(26): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 5/12 | chr22 | TogoVar | ||||||
PHF21B_chr22_44876162_45015005 | 44912878 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00673.hp2 HG01123.hp2 others(12): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0040a0001c0001t0001g0075a0001c0001t0001g0135others(12): Show | 15 | 300 | 0.0500 | 9 | c.831 others(24): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 5/12 | chr22 | TogoVar | ||||||
PHF23_chr17_7230038_7244457 | 7233087 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG01952.hp1 HG01978.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0002g0007a0001c0001t0002g0011others(2): Show | 20 | 394 | 0.0508 | 9 | c.*25 others(20): Show |
PHF23 | ENSG00000040633.13 | transcript | ENST00000320316.8 | protein_coding | 1950 | chr17 | TogoVar | ||||||
PHF2_chr9_93571584_93684587 | 93627492 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(101): Show |
a0001a0002a0007 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(9): Show | a0001c0001t0001g0023a0001c0001t0001g0273a0001c0001t0001g0274others(96): Show | 104 | 350 | 0.2971 | 9 | c.99- others(24): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PHF6_chrX_134368312_134433790 | 134406086 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 283 | 0.0035 | 9 | c.419 others(26): Show |
PHF6 | ENSG00000156531.18 | transcript | ENST00000370803.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHF6_chrX_134368312_134433790 | 134406110 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 283 | 0.0035 | 9 | c.419 others(26): Show |
PHF6 | ENSG00000156531.18 | transcript | ENST00000370803.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHF6_chrX_134368312_134433790 | 134406112 | T | TTCTTTCT others(2): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 283 | 0.0035 | 9 | c.419 others(26): Show |
PHF6 | ENSG00000156531.18 | transcript | ENST00000370803.8 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PHF8_chrX_53931680_54049473 | 53932151 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG01081.hp1 HG01081.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0037a0001c0001t0001g0039others(2): Show | 5 | 186 | 0.0269 | 9 | c.*70 others(20): Show |
PHF8 | ENSG00000172943.21 | transcript | ENST00000338154.11 | protein_coding | 4528 | chrX | TogoVar | ||||||
PHF8_chrX_53931680_54049473 | 54045942 | T | TACCCAGA others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00642.hp1 others(115): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0004c0007others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(115): Show | 118 | 186 | 0.6344 | 9 | c.-22 others(20): Show |
PHF8 | ENSG00000172943.21 | transcript | ENST00000338154.11 | protein_coding | 1470 | chrX | TogoVar | ||||||
PHGDH_chr1_119706934_119749215 | 119717232 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01934.hp2 HG02027.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0024a0001c0001t0001g0175a0001c0001t0001g0176others(4): Show | 8 | 400 | 0.0200 | 9 | c.139 others(26): Show |
PHGDH | ENSG00000092621.13 | transcript | ENST00000641023.2 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PHKG2_chr16_30743425_30766176 | 30749106 | C | CTGCTGCT others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01081.hp2 HG01099.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0031a0001c0001t0001g0132a0001c0001t0001g0138others(2): Show | 6 | 264 | 0.0227 | 9 | c.95+ others(22): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PHKG2_chr16_30743425_30766176 | 30749130 | G | GTGGTGGT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00673.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0028others(41): Show | 50 | 264 | 0.1894 | 9 | c.95+ others(22): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62735564 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02723.hp2 HG02809.hp1 others(6): Show |
a0001 | a0001c0002a0001c0016 | a0001c0002t0001a0001c0002t0015a0001c0016t0001 | a0001c0002t0001g0107a0001c0002t0001g0115a0001c0002t0001g0139others(6): Show | 9 | 192 | 0.0469 | 9 | c.157 others(30): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP1_chr18_62710541_62985433 | 62898013 | C | CTCTTCTC others(2): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02735.hp1 HG02738.hp1 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0006a0003c0004t0018 | a0001c0002t0006g0005a0001c0002t0006g0049a0003c0004t0018g0061 | 3 | 192 | 0.0156 | 9 | c.244 others(28): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 6/16 | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62898015 | C | CTTCTCCT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG01081.hp2 others(27): Show |
a0001a0003a0008others(2): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0023a0001c0001t0001g0026a0001c0001t0001g0030others(27): Show | 30 | 192 | 0.1563 | 9 | c.244 others(28): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
PHLPP2_chr16_71639924_71729701 | 71697215 | T | TAAATAAA others(2): Show |
intron_variant | MODIFIER | HG02083.hp2 HG02523.hp1 HG03688.hp2 others(5): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0005t0002 | a0001c0002t0002g0144a0001c0005t0002g0162a0001c0005t0002g0163others(5): Show | 8 | 324 | 0.0247 | 9 | c.418 others(26): Show |
PHLPP2 | ENSG00000040199.18 | transcript | ENST00000568954.5 | protein_coding | 3/18 | chr16 | TogoVar | ||||||
PHTF1_chr1_113691831_113764486 | 113715648 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01516.hp2 HG01517.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0103a0001c0001t0001g0115others(18): Show | 21 | 330 | 0.0636 | 9 | c.624 others(26): Show |
PHTF1 | ENSG00000116793.16 | transcript | ENST00000369604.6 | protein_coding | 7/18 | chr1 | TogoVar | ||||||
PHTF2_chr7_77793773_77962225 | 77809224 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00733.hp1 HG01192.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0030a0001c0001t0001g0302a0001c0001t0003g0306others(40): Show | 43 | 314 | 0.1369 | 9 | c.-36 others(28): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHTF2_chr7_77793773_77962225 | 77841075 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01261.hp2 HG01884.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0209a0001c0001t0001g0218a0001c0001t0001g0224others(12): Show | 15 | 314 | 0.0478 | 9 | c.45+ others(22): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHTF2_chr7_77793773_77962225 | 77947125 | A | AAACAACA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00642.hp1 others(71): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0017others(11): Show | a0001c0001t0003g0306a0001c0001t0003g0307a0001c0001t0003g0308others(71): Show | 74 | 314 | 0.2357 | 9 | c.185 others(28): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHYHIPL_chr10_59171643_59252770 | 59244562 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00738.hp2 HG00741.hp1 others(25): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006 | a0002c0002t0001g0025a0002c0002t0001g0026a0002c0002t0001g0027others(25): Show | 28 | 202 | 0.1386 | 9 | c.597 others(24): Show |
PHYHIPL | ENSG00000165443.12 | transcript | ENST00000373880.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PHYH_chr10_13272799_13305064 | 13274947 | A | AAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01168.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0256a0001c0001t0001g0259others(3): Show | 6 | 438 | 0.0137 | 9 | c.*33 others(20): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 2851 | chr10 | TogoVar | ||||||
PHYH_chr10_13272799_13305064 | 13283131 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01361.hp1 HG01891.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0047a0001c0001t0001g0058a0001c0001t0001g0059others(21): Show | 24 | 438 | 0.0548 | 9 | c.828 others(24): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 7/8 | chr10 | TogoVar | ||||||
PHYH_chr10_13272799_13305064 | 13298718 | C | CACCACTA others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02109.hp1 HG02258.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0180a0001c0001t0002g0160a0001c0002t0001g0171others(6): Show | 9 | 438 | 0.0206 | 9 | c.76- others(22): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
PHYH_chr10_13272799_13305064 | 13298718 | C | CACTACTA others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01106.hp2 HG01169.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0003others(6): Show | a0001c0001t0001g0166a0001c0001t0001g0167a0001c0001t0001g0177others(14): Show | 18 | 438 | 0.0411 | 9 | c.76- others(22): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
PHYH_chr10_13272799_13305064 | 13298767 | A | ACTACTAC others(2): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01168.hp1 HG01169.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0046a0001c0001t0001g0047others(25): Show | 30 | 438 | 0.0685 | 9 | c.76- others(22): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
PHYKPL_chr5_178203471_178237802 | 178203504 | T | TAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00673.hp1 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0027others(25): Show | 33 | 440 | 0.0750 | 9 | c.*54 others(20): Show |
PHYKPL | ENSG00000175309.15 | transcript | ENST00000308158.10 | protein_coding | 4966 | chr5 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97642819 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02895.hp2 HG02897.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0015 | a0001c0003t0003g0086a0001c0003t0003g0087a0001c0003t0003g0106others(4): Show | 7 | 350 | 0.0200 | 9 | c.435 others(26): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PI4K2A_chr10_97635671_97681434 | 97642823 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG03516.hp2 HG04228.hp1 NA20129.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0007 | a0001c0002t0002g0067a0001c0002t0006g0068a0001c0002t0006g0069others(1): Show | 4 | 350 | 0.0114 | 9 | c.435 others(26): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PI4K2A_chr10_97635671_97681434 | 97650278 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG01175.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0002a0001c0002t0004others(9): Show | a0001c0001t0002g0191a0001c0001t0002g0237a0001c0002t0002g0067others(30): Show | 33 | 350 | 0.0943 | 9 | c.436 others(24): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PI4K2B_chr4_25229033_25284204 | 25258213 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG00621.hp2 others(134): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(11): Show | a0001c0001t0002g0216a0001c0001t0002g0217a0001c0001t0002g0218others(102): Show | 137 | 436 | 0.3142 | 9 | c.757 others(24): Show |
PI4K2B | ENSG00000038210.14 | transcript | ENST00000264864.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PI4K2B_chr4_25229033_25284204 | 25265198 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG00741.hp2 others(45): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0009 | a0001c0001t0004a0001c0001t0005a0001c0001t0013others(4): Show | a0001c0001t0004g0010a0001c0001t0004g0017a0001c0001t0004g0018others(39): Show | 48 | 436 | 0.1101 | 9 | c.107 others(28): Show |
PI4K2B | ENSG00000038210.14 | transcript | ENST00000264864.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PI4KA_chr22_20702691_20863811 | 20825069 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01891.hp1 HG02258.hp1 others(3): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0002g0261a0001c0002t0001g0029a0001c0004t0001g0040others(3): Show | 6 | 334 | 0.0180 | 9 | c.368 others(24): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 3/54 | chr22 | TogoVar | ||||||
PIAS1_chr15_68049315_68198847 | 68177278 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00642.hp2 others(24): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0080a0001c0001t0002g0102a0001c0001t0002g0103others(24): Show | 27 | 260 | 0.1039 | 9 | c.148 others(26): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PIAS1_chr15_68049315_68198847 | 68179564 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01978.hp2 HG02723.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0036 | a0001c0001t0001g0045a0001c0001t0001g0048a0001c0001t0001g0219others(2): Show | 5 | 260 | 0.0192 | 9 | c.148 others(28): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PIAS2_chr18_46798218_46922507 | 46806353 | C | CTTTTTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(16): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0044a0001c0001t0063a0001c0001t0085others(16): Show | a0001c0001t0044g0057a0001c0001t0063g0092a0001c0001t0085g0063others(16): Show | 19 | 322 | 0.0590 | 9 | c.*60 others(20): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 6079 | chr18 | TogoVar | |||||
PIBF1_chr13_72777133_73021461 | 72858023 | T | TTGCTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(44): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0002c0014others(3): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0002others(5): Show | a0001c0001t0001g0190a0001c0001t0001g0331a0001c0001t0001g0332others(44): Show | 47 | 346 | 0.1358 | 9 | c.132 others(28): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PIBF1_chr13_72777133_73021461 | 72951918 | T | TCTTGTTG others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 NA18939.hp1 NA18952.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175a0001c0001t0001g0176a0001c0001t0001g0177others(5): Show | 8 | 346 | 0.0231 | 9 | c.183 others(30): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PIBF1_chr13_72777133_73021461 | 72987858 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01884.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0209a0002c0002t0002g0211a0002c0002t0002g0218others(3): Show | 6 | 346 | 0.0173 | 9 | c.205 others(30): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PIBF1_chr13_72777133_73021461 | 73001582 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(95): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0006t0002others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0095others(95): Show | 98 | 346 | 0.2832 | 9 | c.222 others(28): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PIBF1_chr13_72777133_73021461 | 73010810 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00673.hp2 HG01975.hp1 others(16): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0002a0002c0002t0003a0002c0005t0002 | a0002c0002t0002g0007a0002c0002t0003g0009a0002c0002t0003g0019others(16): Show | 19 | 346 | 0.0549 | 9 | c.222 others(28): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PICALM_chr11_85952175_86074084 | 86036945 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(191): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0069a0001c0001t0001g0070others(188): Show | 194 | 358 | 0.5419 | 9 | c.131 others(26): Show |
PICALM | ENSG00000073921.18 | transcript | ENST00000393346.8 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
PICALM_chr11_85952175_86074084 | 86056134 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01358.hp2 HG01884.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0070a0001c0001t0001g0078a0001c0001t0001g0082others(14): Show | 17 | 358 | 0.0475 | 9 | c.130 others(28): Show |
PICALM | ENSG00000073921.18 | transcript | ENST00000393346.8 | protein_coding | 1/19 | chr11 | TogoVar | ||||||
PICK1_chr22_38052404_38080701 | 38061343 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG02055.hp1 HG02109.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0058a0001c0001t0001g0065others(1): Show | 5 | 428 | 0.0117 | 9 | c.153 others(26): Show |
PICK1 | ENSG00000100151.16 | transcript | ENST00000356976.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PID1_chr2_229018973_229276287 | 229031215 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00735.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0009a0001c0001t0001g0022a0001c0001t0001g0028others(36): Show | 39 | 256 | 0.1523 | 9 | c.178 others(26): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | ||||||
PID1_chr2_229018973_229276287 | 229054720 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006 | a0001c0001t0002g0060a0001c0001t0005g0070a0001c0001t0006g0062 | 3 | 256 | 0.0117 | 9 | c.178 others(28): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar |