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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHRF1_chr11_571470_617222 | 608502 | CGGACGCG others(5): Show |
C | disruptive_inframe_deletion | MODERATE | HG00639.hp2 HG01168.hp1 HG01169.hp1 others(21): Show |
a0003a0006a0009others(2): Show | a0003c0004a0006c0008a0009c0012others(3): Show | a0003c0004t0003a0006c0008t0004a0006c0008t0010others(4): Show | a0003c0004t0003g0025a0003c0004t0003g0083a0003c0004t0003g0084others(21): Show | 24 | 279 | 0.0860 | -12 | c.305 others(21): Show |
p.Gly others(15): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 14/18 | 3203/5539 | 3059/4950 | 1020/1649 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
PHTF1_chr1_113691831_113764486 | 113698152 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 330 | 0.0030 | -12 | c.226 others(28): Show |
PHTF1 | ENSG00000116793.16 | transcript | ENST00000369604.6 | protein_coding | 18/18 | chr1 | TogoVar | ||||||
PHTF1_chr1_113691831_113764486 | 113698616 | TATATACA others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG01928.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115a0001c0001t0001g0240 | 2 | 330 | 0.0061 | -12 | c.214 others(29): Show |
PHTF1 | ENSG00000116793.16 | transcript | ENST00000369604.6 | protein_coding | 17/18 | chr1 | TogoVar | ||||||
PHTF1_chr1_113691831_113764486 | 113722919 | CAAATAAA others(5): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0002 | a0002c0009 | a0002c0009t0001 | a0002c0009t0001g0318 | 1 | 330 | 0.0030 | -12 | c.623 others(29): Show |
PHTF1 | ENSG00000116793.16 | transcript | ENST00000369604.6 | protein_coding | 7/18 | chr1 | TogoVar | ||||||
PHTF1_chr1_113691831_113764486 | 113752385 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100 | 1 | 330 | 0.0030 | -12 | c.102 others(29): Show |
PHTF1 | ENSG00000116793.16 | transcript | ENST00000369604.6 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
PHTF1_chr1_113691831_113764486 | 113753544 | CAGCCCCC others(5): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 330 | 0.0030 | -12 | c.102 others(29): Show |
PHTF1 | ENSG00000116793.16 | transcript | ENST00000369604.6 | protein_coding | 3/18 | chr1 | TogoVar | ||||||
PHTF2_chr7_77793773_77962225 | 77803688 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG02896.hp2 HG03669.hp2 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0218a0001c0001t0001g0219 | 3 | 314 | 0.0096 | -12 | c.-36 others(29): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHTF2_chr7_77793773_77962225 | 77912710 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | NA19056.hp1 NA19079.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232a0001c0001t0001g0249a0001c0001t0001g0250 | 3 | 314 | 0.0096 | -12 | c.674 others(29): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHTF2_chr7_77793773_77962225 | 77925495 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 314 | 0.0032 | -12 | c.101 others(31): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHTF2_chr7_77793773_77962225 | 77932617 | AGAGAGTG others(5): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01099.hp1 others(8): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0013others(3): Show | a0001c0002t0001g0289a0001c0002t0002g0039a0001c0002t0002g0043others(8): Show | 11 | 314 | 0.0350 | -12 | c.123 others(31): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PHYHD1_chr9_128915982_128947038 | 128932820 | CTTATTTA others(5): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp2 HG01109.hp2 others(46): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0004others(6): Show | a0001c0001t0001g0159a0001c0001t0002g0008a0001c0001t0002g0052others(38): Show | 49 | 404 | 0.1213 | -12 | c.193 others(27): Show |
PHYHD1 | ENSG00000175287.19 | transcript | ENST00000372592.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PHYHD1_chr9_128915982_128947038 | 128933150 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03688.hp1 NA18965.hp1 NA18998.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0142a0001c0001t0002g0146a0001c0001t0003g0027others(5): Show | 9 | 404 | 0.0223 | -12 | c.193 others(27): Show |
PHYHD1 | ENSG00000175287.19 | transcript | ENST00000372592.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PHYHIPL_chr10_59171643_59252770 | 59180314 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG00639.hp2 HG01167.hp1 HG02109.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0014others(19): Show | 24 | 202 | 0.1188 | -12 | c.106 others(29): Show |
PHYHIPL | ENSG00000165443.12 | transcript | ENST00000373880.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PHYHIPL_chr10_59171643_59252770 | 59244562 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG03041.hp2 NA20300.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0192 | 3 | 202 | 0.0149 | -12 | c.597 others(27): Show |
PHYHIPL | ENSG00000165443.12 | transcript | ENST00000373880.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PHYH_chr10_13272799_13305064 | 13289009 | AAACAAAT others(5): Show |
A | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 438 | 0.0023 | -12 | c.497 others(27): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 5/8 | chr10 | TogoVar | ||||||
PHYH_chr10_13272799_13305064 | 13298922 | AAATAATA others(5): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0103 | 1 | 438 | 0.0023 | -12 | c.76- others(25): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
PHYKPL_chr5_178203471_178237802 | 178207691 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01496.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168a0001c0001t0001g0183a0001c0001t0001g0222 | 3 | 440 | 0.0068 | -12 | c.*12 others(23): Show |
PHYKPL | ENSG00000175309.15 | transcript | ENST00000308158.10 | protein_coding | 779 | chr5 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97635750 | CATAAATA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02683.hp1 HG03453.hp1 HG03486.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0007a0001c0002t0021a0001c0003t0003 | a0001c0002t0007g0317a0001c0002t0021g0014a0001c0003t0003g0088 | 3 | 350 | 0.0086 | -12 | c.-49 others(23): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 4920 | chr10 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97642391 | CTTTTTCT others(5): Show |
C | intron_variant | MODIFIER | HG02071.hp2 HG03486.hp1 NA19077.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0021 | a0001c0001t0001g0132a0001c0001t0001g0133a0001c0002t0021g0014 | 3 | 350 | 0.0086 | -12 | c.435 others(29): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PI4K2A_chr10_97635671_97681434 | 97642806 | TCTTCCTT others(5): Show |
T | intron_variant | MODIFIER | HG01361.hp2 HG01952.hp2 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0300a0001c0001t0002g0298a0001c0001t0002g0299 | 3 | 350 | 0.0086 | -12 | c.435 others(29): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PI4K2A_chr10_97635671_97681434 | 97642842 | CCTTCCTT others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG01256.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0332a0001c0001t0001g0333a0001c0001t0001g0334others(9): Show | 13 | 350 | 0.0371 | -12 | c.435 others(29): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PI4K2A_chr10_97635671_97681434 | 97649609 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG01243.hp2 HG01496.hp1 others(40): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0006others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(10): Show | a0001c0002t0002g0053a0001c0002t0002g0054a0001c0002t0002g0055others(40): Show | 43 | 350 | 0.1229 | -12 | c.436 others(29): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PI4K2A_chr10_97635671_97681434 | 97678880 | GGTGTGTG others(5): Show |
G | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01358.hp1 HG02523.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003a0001c0003t0017 | a0001c0001t0001g0222a0001c0001t0001g0258a0001c0003t0003g0090others(2): Show | 5 | 350 | 0.0143 | -12 | c.*51 others(23): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2447 | chr10 | TogoVar | ||||||
PI4K2B_chr4_25229033_25284204 | 25236206 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00642.hp1 others(93): Show |
a0001a0002a0003 | a0001c0001a0001c0010a0001c0014others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0136a0001c0001t0002g0149a0001c0001t0003g0001others(69): Show | 96 | 436 | 0.2202 | -12 | c.268 others(29): Show |
PI4K2B | ENSG00000038210.14 | transcript | ENST00000264864.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PI4K2B_chr4_25229033_25284204 | 25260610 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01346.hp2 HG01884.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0003 | a0001c0001t0003a0001c0014t0006a0002c0003t0005 | a0001c0001t0003g0140a0001c0001t0003g0151a0001c0014t0006g0157others(2): Show | 6 | 436 | 0.0138 | -12 | c.978 others(25): Show |
PI4K2B | ENSG00000038210.14 | transcript | ENST00000264864.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PI4K2B_chr4_25229033_25284204 | 25260631 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00642.hp1 others(69): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0003g0001a0001c0001t0003g0002a0001c0001t0003g0004others(47): Show | 72 | 436 | 0.1651 | -12 | c.978 others(25): Show |
PI4K2B | ENSG00000038210.14 | transcript | ENST00000264864.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PI4K2B_chr4_25229033_25284204 | 25260633 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01109.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0003a0001c0005t0002a0002c0003t0006 | a0001c0001t0003g0163a0001c0005t0002g0009a0001c0005t0002g0294others(4): Show | 10 | 436 | 0.0229 | -12 | c.978 others(25): Show |
PI4K2B | ENSG00000038210.14 | transcript | ENST00000264864.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PI4K2B_chr4_25229033_25284204 | 25276808 | TGTGTGTG others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00438.hp1 others(94): Show |
a0001a0002a0004others(1): Show | a0001c0010a0002c0002a0004c0006others(1): Show | a0001c0010t0002a0002c0002t0001a0002c0002t0020others(2): Show | a0001c0010t0002g0223a0002c0002t0001g0011a0002c0002t0001g0012others(82): Show | 97 | 436 | 0.2225 | -12 | c.127 others(29): Show |
PI4K2B | ENSG00000038210.14 | transcript | ENST00000264864.8 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PI4KA_chr22_20702691_20863811 | 20767936 | AATTATTA others(5): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG03130.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0042a0001c0004t0001g0043 | 2 | 334 | 0.0060 | -12 | c.232 others(31): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 19/54 | chr22 | TogoVar | ||||||
PI4KA_chr22_20702691_20863811 | 20770579 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG01109.hp2 HG02083.hp2 HG03579.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0181a0001c0001t0001g0206a0001c0002t0001g0059 | 3 | 334 | 0.0090 | -12 | c.232 others(31): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 19/54 | chr22 | TogoVar | ||||||
PI4KA_chr22_20702691_20863811 | 20771565 | CTTTATTT others(5): Show |
C | intron_variant | MODIFIER | HG01433.hp1 NA18973.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0001 | a0001c0001t0002g0256a0001c0006t0001g0277 | 2 | 334 | 0.0060 | -12 | c.232 others(31): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 19/54 | chr22 | TogoVar | ||||||
PI4KA_chr22_20702691_20863811 | 20790699 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 334 | 0.0030 | -12 | c.232 others(31): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 19/54 | chr22 | TogoVar | ||||||
PI4KA_chr22_20702691_20863811 | 20814757 | AAAATGAC others(5): Show |
A | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0128 | 1 | 334 | 0.0030 | -12 | c.857 others(29): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 7/54 | chr22 | TogoVar | ||||||
PI4KA_chr22_20702691_20863811 | 20817734 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03041.hp1 HG03098.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0057a0001c0002t0001g0058 | 2 | 334 | 0.0060 | -12 | c.856 others(27): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 7/54 | chr22 | TogoVar | ||||||
PI4KA_chr22_20702691_20863811 | 20824732 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG01192.hp2 NA18955.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0078a0001c0002t0001g0134 | 2 | 334 | 0.0060 | -12 | c.368 others(27): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 3/54 | chr22 | TogoVar | ||||||
PI4KB_chr1_151286804_151332416 | 151291650 | CCGCCCCC others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0207 | 1 | 330 | 0.0030 | -12 | c.*11 others(23): Show |
PI4KB | ENSG00000143393.17 | transcript | ENST00000368873.6 | protein_coding | 153 | chr1 | TogoVar | ||||||
PIAS1_chr15_68049315_68198847 | 68129794 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02723.hp2 HG02895.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0175a0001c0001t0005g0176 | 2 | 260 | 0.0077 | -12 | c.470 others(31): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PIAS1_chr15_68049315_68198847 | 68160802 | CAGTGTAA others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0154 | 1 | 260 | 0.0039 | -12 | c.935 others(29): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PIAS1_chr15_68049315_68198847 | 68179561 | GTTCTTTT others(5): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG01891.hp2 HG02280.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010a0001c0001t0021others(1): Show | a0001c0001t0005g0026a0001c0001t0005g0028a0001c0001t0005g0029others(18): Show | 21 | 260 | 0.0808 | -12 | c.148 others(31): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PIAS2_chr18_46798218_46922507 | 46803044 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00438.hp1 HG02083.hp1 HG02258.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0176a0001c0001t0001g0201a0001c0001t0002g0154others(9): Show | 12 | 322 | 0.0373 | -12 | c.*93 others(23): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 173 | chr18 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46806353 | CTTTTTTT others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG02922.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0045a0001c0001t0049a0001c0001t0141 | a0001c0001t0045g0009a0001c0001t0049g0198a0001c0001t0141g0172 | 3 | 322 | 0.0093 | -12 | c.*60 others(23): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 6068 | chr18 | TogoVar | |||||
PIAS2_chr18_46798218_46922507 | 46859427 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp2 HG01106.hp1 others(24): Show |
a0001 | a0001c0001a0001c0004a0001c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(19): Show | a0001c0001t0002g0187a0001c0001t0003g0190a0001c0001t0006g0256others(24): Show | 27 | 322 | 0.0839 | -12 | c.585 others(29): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 3/13 | chr18 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46870615 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0307 | 1 | 322 | 0.0031 | -12 | c.500 others(29): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 2/13 | chr18 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46886210 | TTCCTGAG others(5): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0079 | a0001c0001t0079g0305 | 1 | 322 | 0.0031 | -12 | c.499 others(29): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 2/13 | chr18 | TogoVar | ||||||
PIAS3_chr1_145843522_145864081 | 145862098 | GATAAATA others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG01346.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0004g0013others(1): Show | 5 | 368 | 0.0136 | -12 | c.-31 others(23): Show |
PIAS3 | ENSG00000131788.16 | transcript | ENST00000393045.7 | protein_coding | 3018 | chr1 | TogoVar | ||||||
PIAS4_chr19_4002736_4044386 | 4029811 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0248 | 1 | 334 | 0.0030 | -12 | c.907 others(27): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PIBF1_chr13_72777133_73021461 | 72790421 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp2 others(15): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0001c0001t0002a0007c0010t0001 | a0001c0001t0001g0087a0001c0001t0001g0265a0001c0001t0001g0266others(15): Show | 18 | 346 | 0.0520 | -12 | c.253 others(29): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PIBF1_chr13_72777133_73021461 | 72790510 | CATAGATA others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01074.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008 | a0001c0001t0001g0091a0001c0001t0001g0097a0001c0001t0001g0098others(28): Show | 31 | 346 | 0.0896 | -12 | c.253 others(29): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PIBF1_chr13_72777133_73021461 | 72791037 | TTTTGTTT others(5): Show |
T | intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0205 | 1 | 346 | 0.0029 | -12 | c.253 others(29): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PIBF1_chr13_72777133_73021461 | 72809578 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00639.hp1 others(11): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0006c0011t0001 | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0332others(11): Show | 14 | 346 | 0.0405 | -12 | c.672 others(31): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |