view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHF11_chr13_49490953_49533976 | 49533070 | AAAAGTGA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(177): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0008 others(138): Show |
180 | 414 | 0.4348 | -15 | c.*44 others(26): Show |
PHF11 | ENSG00000136147.18 | transcript | ENST00000378319.8 | protein_coding | 4095 | chr13 | TogoVar | |||||||
PHF19_chr9_120850651_120882188 | 120853763 | GCTACTGC others(8): Show |
G | downstream_gene_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 408 | 0.0025 | -15 | c.*41 others(26): Show |
PHF19 | ENSG00000119403.15 | transcript | ENST00000373896.8 | protein_coding | 1887 | chr9 | TogoVar | |||||||
PHF20_chr20_35767015_35955370 | 35850296 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 206 | 0.0049 | -15 | c.340 others(32): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHF20_chr20_35767015_35955370 | 35885467 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG02723.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0007a0001c0001t0019a0001c0004t0011 | a0001c0001t0007g0187 a0001c0001t0019g0109 a0001c0004t0011g0203 others(1): Show |
4 | 206 | 0.0194 | -15 | c.128 others(36): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHF20_chr20_35767015_35955370 | 35889009 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01515.hp2 HG01517.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 a0001c0001t0002g0157 a0001c0001t0002g0158 others(17): Show |
20 | 206 | 0.0971 | -15 | c.128 others(36): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHF20_chr20_35767015_35955370 | 35946671 | ATTTTATT others(8): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG03195.hp1 HG03516.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0112 a0001c0001t0007g0179 a0001c0001t0007g0180 others(3): Show |
6 | 206 | 0.0291 | -15 | c.289 others(32): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 45975322 | CAAAATAA others(8): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG02165.hp1 HG03942.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0020a0002c0002t0002a0002c0002t0025 | a0001c0001t0020g0239 a0001c0001t0020g0240 a0002c0002t0002g0026 others(2): Show |
5 | 280 | 0.0179 | -15 | c.361 others(32): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 7/18 | chr11 | TogoVar | |||||||
PHF21B_chr22_44876162_45015005 | 44985988 | CACCATCA others(8): Show |
C | intron_variant | MODIFIER | HG02071.hp1 HG02071.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0005t0013 | a0001c0001t0003g0124 a0001c0005t0013g0156 |
2 | 300 | 0.0067 | -15 | c.120 others(34): Show |
PHF21B | ENSG00000056487.17 | transcript | ENST00000313237.10 | protein_coding | 2/12 | chr22 | TogoVar | |||||||
PHF24_chr9_34953285_34987544 | 34958226 | GCGCCGCC others(8): Show |
G | upstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0006 | 1 | 450 | 0.0022 | -15 | c.-17 others(24): Show |
PHF24 | ENSG00000122733.12 | transcript | ENST00000242315.4 | protein_coding | 58 | chr9 | TogoVar | |||||||
PHF2_chr9_93571584_93684587 | 93624477 | CGGTGATG others(8): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00639.hp2 HG00738.hp2 others(19): Show |
a0001a0002 | a0001c0004a0001c0005a0001c0012others(1): Show | a0001c0004t0005a0001c0004t0010a0001c0005t0005others(4): Show | a0001c0004t0005g0002 a0001c0004t0005g0066 a0001c0004t0005g0067 others(16): Show |
22 | 350 | 0.0629 | -15 | c.99- others(30): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PHF2_chr9_93571584_93684587 | 93624666 | GTGATGGT others(8): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG03139.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0166 a0002c0002t0001g0161 |
2 | 350 | 0.0057 | -15 | c.99- others(30): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PHF3_chr6_63630802_63731011 | 63723788 | CATTATTA others(8): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01517.hp1 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0071 | a0001c0001t0028g0045 a0001c0001t0028g0166 a0001c0001t0071g0072 |
3 | 320 | 0.0094 | -15 | c.*10 others(28): Show |
PHF3 | ENSG00000118482.12 | transcript | ENST00000262043.8 | protein_coding | 16/16 | 10114 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PHF5A_chr22_41454717_41473692 | 41470528 | CTTTTTTT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(82): Show |
218 | 408 | 0.5343 | -15 | c.-18 others(26): Show |
PHF5A | ENSG00000100410.8 | transcript | ENST00000216252.4 | protein_coding | 1837 | chr22 | TogoVar | |||||||
PHF8_chrX_53931680_54049473 | 54009844 | GAAAAAAA others(8): Show |
G | intron_variant | MODIFIER | HG01934.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0035 |
2 | 186 | 0.0108 | -15 | c.946 others(32): Show |
PHF8 | ENSG00000172943.21 | transcript | ENST00000338154.11 | protein_coding | 8/21 | chrX | TogoVar | |||||||
PHKA1_chrX_72573814_72719306 | 72578489 | AAAAAGAA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG01109.hp1 HG03139.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0050 a0001c0001t0001g0189 a0001c0001t0003g0053 |
3 | 237 | 0.0127 | -15 | c.*24 others(26): Show |
PHKA1 | ENSG00000067177.15 | transcript | ENST00000373542.9 | protein_coding | 324 | chrX | TogoVar | |||||||
PHKG2_chr16_30743425_30766176 | 30748999 | GGGTGGTG others(8): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01175.hp2 HG01975.hp1 others(18): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0006 a0001c0001t0001g0027 a0001c0001t0001g0029 others(12): Show |
21 | 264 | 0.0796 | -15 | c.95+ others(28): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PHKG2_chr16_30743425_30766176 | 30749085 | GTGGTGCT others(8): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp1 HG01106.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0023 a0001c0001t0001g0083 a0001c0001t0001g0107 others(5): Show |
10 | 264 | 0.0379 | -15 | c.95+ others(28): Show |
PHKG2 | ENSG00000156873.16 | transcript | ENST00000563588.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PHLDA1_chr12_76020447_76036776 | 76031882 | CAGGGCGA others(8): Show |
C | upstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0039 | 1 | 462 | 0.0022 | -15 | c.-15 others(24): Show |
PHLDA1 | ENSG00000139289.15 | transcript | ENST00000266671.10 | protein_coding | 107 | chr12 | TogoVar | |||||||
PHLDA2_chr11_2923273_2934420 | 2929453 | TGCCCCTC others(8): Show |
T | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01168.hp1 HG01169.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 9 | 375 | 0.0240 | -15 | c.-10 others(23): Show |
PHLDA2 | ENSG00000181649.8 | transcript | ENST00000314222.5 | protein_coding | 34 | chr11 | TogoVar | |||||||
PHLDB1_chr11_118602615_118663028 | 118607329 | TGTGGTGG others(8): Show |
T | upstream_gene_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0199 | 1 | 356 | 0.0028 | -15 | c.-39 others(24): Show |
PHLDB1 | ENSG00000019144.20 | transcript | ENST00000600882.6 | protein_coding | 285 | chr11 | TogoVar | |||||||
PHLDB3_chr19_43470103_43509746 | 43472064 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp2 others(132): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0004a0001c0006others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(17): Show | a0001c0001t0001g0012 a0001c0001t0001g0186 a0001c0001t0001g0220 others(125): Show |
135 | 396 | 0.3409 | -15 | c.*33 others(26): Show |
PHLDB3 | ENSG00000176531.11 | transcript | ENST00000292140.10 | protein_coding | 3038 | chr19 | TogoVar | |||||||
PHLDB3_chr19_43470103_43509746 | 43507393 | CTCCTCCT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(195): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0012 a0001c0001t0001g0186 a0001c0001t0001g0220 others(189): Show |
198 | 396 | 0.5000 | -15 | c.-28 others(26): Show |
PHLDB3 | ENSG00000176531.11 | transcript | ENST00000292140.10 | protein_coding | 2648 | chr19 | TogoVar | |||||||
PHLPP1_chr18_62710541_62985433 | 62917195 | CATATTAT others(8): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01167.hp1 others(21): Show |
a0001a0003a0016 | a0001c0001a0001c0002a0001c0020others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(11): Show | a0001c0001t0001g0010 a0001c0001t0001g0020 a0001c0001t0003g0076 others(21): Show |
24 | 192 | 0.1250 | -15 | c.280 others(34): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP2_chr16_71639924_71729701 | 71697200 | AAATAAAT others(8): Show |
A | intron_variant | MODIFIER | HG02083.hp1 | a0009 | a0009c0025 | a0009c0025t0001 | a0009c0025t0001g0085 | 1 | 324 | 0.0031 | -15 | c.418 others(32): Show |
PHLPP2 | ENSG00000040199.18 | transcript | ENST00000568954.5 | protein_coding | 3/18 | chr16 | TogoVar | |||||||
PHOSPHO1_chr17_49218366_49235787 | 49228282 | TTCCTTCC others(8): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02572.hp1 HG03239.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0128 a0001c0001t0002g0023 |
5 | 420 | 0.0119 | -15 | c.-67 others(32): Show |
PHOSPHO1 | ENSG00000173868.12 | transcript | ENST00000310544.9 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
PHOX2B_chr4_41739082_41753725 | 41745972 | AGCTGCCG others(8): Show |
A | disruptive_inframe_deletion | MODERATE | HG02155.hp2 NA19070.hp1 NA19076.hp1 |
a0002 | a0002c0005 | a0002c0005t0001a0002c0005t0017 | a0002c0005t0001g0021 a0002c0005t0017g0039 |
3 | 382 | 0.0079 | -15 | c.765 others(22): Show |
p.Ala others(13): Show |
PHOX2B | ENSG00000109132.7 | transcript | ENST00000226382.4 | protein_coding | 3/3 | 894/2785 | 765/945 | 255/314 | chr4 | TogoVar | |||
PHTF1_chr1_113691831_113764486 | 113701826 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 | 1 | 330 | 0.0030 | -15 | c.189 others(32): Show |
PHTF1 | ENSG00000116793.16 | transcript | ENST00000369604.6 | protein_coding | 15/18 | chr1 | TogoVar | |||||||
PHTF2_chr7_77793773_77962225 | 77912710 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02451.hp1 | a0003 | a0003c0009 | a0003c0009t0024 | a0003c0009t0024g0001 | 1 | 314 | 0.0032 | -15 | c.674 others(32): Show |
PHTF2 | ENSG00000006576.17 | transcript | ENST00000422959.8 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PHYH_chr10_13272799_13305064 | 13298718 | CACTACTA others(8): Show |
C | intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0399 | 1 | 438 | 0.0023 | -15 | c.76- others(28): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
PHYH_chr10_13272799_13305064 | 13298922 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG02056.hp2 HG02738.hp1 HG04199.hp2 others(4): Show |
a0002 | a0002c0003a0002c0004a0002c0008 | a0002c0003t0001a0002c0004t0001a0002c0008t0003others(1): Show | a0002c0003t0001g0137 a0002c0003t0001g0141 a0002c0004t0001g0136 others(4): Show |
7 | 438 | 0.0160 | -15 | c.76- others(28): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
PI16_chr6_36949738_36969837 | 36955075 | CCCTGACA others(8): Show |
C | intron_variant | MODIFIER | NA19072.hp1 | a0009 | a0009c0015 | a0009c0015t0002 | a0009c0015t0002g0047 | 1 | 426 | 0.0024 | -15 | c.171 others(30): Show |
PI16 | ENSG00000164530.15 | transcript | ENST00000373674.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PI4K2A_chr10_97635671_97681434 | 97665579 | CTATTTAT others(8): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0309 | 1 | 350 | 0.0029 | -15 | c.108 others(32): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PI4KA_chr22_20702691_20863811 | 20767936 | AATTATTA others(8): Show |
A | intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 334 | 0.0030 | -15 | c.232 others(34): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 19/54 | chr22 | TogoVar | |||||||
PI4KA_chr22_20702691_20863811 | 20817734 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp1 HG02647.hp2 others(3): Show |
a0001a0002a0007 | a0001c0002a0001c0004a0001c0030others(3): Show | a0001c0002t0001a0001c0004t0006a0001c0030t0006others(3): Show | a0001c0002t0001g0029 a0001c0004t0006g0027 a0001c0030t0006g0026 others(3): Show |
6 | 334 | 0.0180 | -15 | c.856 others(30): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 7/54 | chr22 | TogoVar | |||||||
PI4KA_chr22_20702691_20863811 | 20836074 | CAAAACAA others(8): Show |
C | intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0332 | 1 | 334 | 0.0030 | -15 | c.274 others(32): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 2/54 | chr22 | TogoVar | |||||||
PIAS1_chr15_68049315_68198847 | 68072399 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 260 | 0.0039 | -15 | c.25- others(32): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46803044 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00673.hp1 HG00735.hp2 HG00738.hp2 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0005a0001c0001t0006a0001c0001t0015others(13): Show | a0001c0001t0005g0002 a0001c0001t0006g0257 a0001c0001t0015g0307 others(13): Show |
16 | 322 | 0.0497 | -15 | c.*93 others(26): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 173 | chr18 | TogoVar | |||||||
PIAS2_chr18_46798218_46922507 | 46807366 | TATATATA others(8): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0199 | a0001c0001t0199g0069 | 1 | 322 | 0.0031 | -15 | c.*50 others(26): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5052 | chr18 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46870615 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18951.hp1 NA18961.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0184 a0001c0001t0002g0154 |
2 | 322 | 0.0062 | -15 | c.500 others(32): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 2/13 | chr18 | TogoVar | |||||||
PIAS4_chr19_4002736_4044386 | 4011857 | GTGTTTGG others(8): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01071.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0015 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0076 others(18): Show |
21 | 334 | 0.0629 | -15 | c.28- others(30): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PIAS4_chr19_4002736_4044386 | 4011862 | TGGTGTGG others(8): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0157 | 1 | 334 | 0.0030 | -15 | c.28- others(30): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72790461 | ACACTTAT others(8): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0183 | 1 | 346 | 0.0029 | -15 | c.253 others(32): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72832072 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02273.hp2 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 a0001c0001t0002g0152 a0001c0001t0002g0156 |
3 | 346 | 0.0087 | -15 | c.109 others(34): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72950917 | GCCCACTG others(8): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 a0001c0001t0002g0094 |
2 | 346 | 0.0058 | -15 | c.183 others(36): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 14/17 | chr13 | TogoVar | |||||||
PICALM_chr11_85952175_86074084 | 85986365 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG02074.hp1 NA18965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 a0001c0001t0001g0202 a0001c0001t0001g0211 others(2): Show |
5 | 358 | 0.0140 | -15 | c.140 others(34): Show |
PICALM | ENSG00000073921.18 | transcript | ENST00000393346.8 | protein_coding | 13/19 | chr11 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229178968 | CTGGAAAG others(8): Show |
C | intron_variant | MODIFIER | NA20300.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0158 a0001c0001t0003g0160 |
2 | 256 | 0.0078 | -15 | c.31- others(32): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229184219 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01358.hp1 HG01496.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0076 a0001c0001t0001g0078 a0001c0001t0001g0126 others(21): Show |
24 | 256 | 0.0938 | -15 | c.31- others(32): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229184496 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0242 | 1 | 256 | 0.0039 | -15 | c.31- others(32): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229184562 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0253 | 1 | 256 | 0.0039 | -15 | c.31- others(32): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
PIDD1_chr11_794184_810231 | 805191 | CGGCGCGC others(8): Show |
C | 5_prime_UTR_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0075 | 1 | 408 | 0.0025 | -15 | c.-10 others(23): Show |
PIDD1 | ENSG00000177595.19 | transcript | ENST00000347755.10 | protein_coding | 1/16 | 804 | chr11 | TogoVar |