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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
POU2AF2_chr11_111240725_111291401 | 111276453 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02055.hp2 HG02155.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0164a0001c0001t0003g0178a0001c0001t0003g0223others(1): Show | 4 | 380 | 0.0105 | 9 | c.121 others(26): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | chr11 | TogoVar | ||||||
POU2F1_chr1_167215886_167432340 | 167358737 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00544.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(8): Show | a0001c0001t0001g0131a0001c0001t0001g0134a0001c0001t0001g0162others(47): Show | 50 | 292 | 0.1712 | 9 | c.128 others(26): Show |
POU2F1 | ENSG00000143190.23 | transcript | ENST00000367866.7 | protein_coding | 2/15 | chr1 | TogoVar | ||||||
POU2F3_chr11_120235140_120324945 | 120288128 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01109.hp2 HG01243.hp1 others(14): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0009a0001c0001t0001g0038a0001c0001t0001g0047others(14): Show | 17 | 320 | 0.0531 | 9 | c.133 others(28): Show |
POU2F3 | ENSG00000137709.10 | transcript | ENST00000543440.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
POU2F3_chr11_120235140_120324945 | 120304330 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00673.hp2 others(89): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0009a0001c0001t0001g0016a0001c0001t0001g0026others(89): Show | 92 | 320 | 0.2875 | 9 | c.445 others(24): Show |
POU2F3 | ENSG00000137709.10 | transcript | ENST00000543440.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
POU2F3_chr11_120235140_120324945 | 120304339 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01109.hp2 HG01243.hp1 others(41): Show |
a0001a0004a0009 | a0001c0001a0004c0004a0009c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0005a0001c0001t0001g0030a0001c0001t0001g0069others(41): Show | 44 | 320 | 0.1375 | 9 | c.445 others(24): Show |
POU2F3 | ENSG00000137709.10 | transcript | ENST00000543440.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
POU3F3_chr2_104849115_104863574 | 104863159 | A | AATTATTA others(2): Show |
downstream_gene_variant | MODIFIER | NA18977.hp1 NA18994.hp1 NA19087.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0000a0001c0002t0002g0000 | 3 | 406 | 0.0074 | 9 | c.*61 others(20): Show |
POU3F3 | ENSG00000198914.5 | transcript | ENST00000361360.4 | protein_coding | 4586 | chr2 | TogoVar | ||||||
POU4F2_chr4_146633893_146647474 | 146639305 | T | TGGCGGCG others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00609.hp2 HG01168.hp2 HG01169.hp1 others(3): Show |
a0004 | a0004c0005 | a0004c0005t0001a0004c0005t0002 | a0004c0005t0001g0002a0004c0005t0002g0001 | 6 | 414 | 0.0145 | 9 | c.192 others(16): Show |
p.Gly others(11): Show |
POU4F2 | ENSG00000151615.3 | transcript | ENST00000281321.3 | protein_coding | 1/2 | 449/3144 | 201/1230 | 67/409 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
POU4F3_chr5_146333839_146346728 | 146335079 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(100): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0002g0001a0001c0001t0003g0001others(6): Show | 103 | 352 | 0.2926 | 9 | c.-40 others(20): Show |
POU4F3 | ENSG00000091010.6 | transcript | ENST00000646991.2 | protein_coding | 3759 | chr5 | TogoVar | ||||||
POU4F3_chr5_146333839_146346728 | 146335113 | A | AATAATAA others(2): Show |
upstream_gene_variant | MODIFIER | NA18967.hp1 NA20300.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0002g0001a0001c0001t0003g0001 | 3 | 352 | 0.0085 | 9 | c.-40 others(20): Show |
POU4F3 | ENSG00000091010.6 | transcript | ENST00000646991.2 | protein_coding | 3725 | chr5 | TogoVar | ||||||
POU5F1B_chr8_127410867_127421946 | 127417210 | A | AAAAAGAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00423.hp2 others(119): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0003a0004c0004others(3): Show | a0001c0001t0000a0003c0003t0000a0004c0004t0000others(3): Show | a0001c0001t0000g0000a0003c0003t0000g0000a0004c0004t0000g0000others(3): Show | 122 | 440 | 0.2773 | 9 | c.*26 others(18): Show |
POU5F1B | ENSG00000212993.6 | transcript | ENST00000696633.1 | protein_coding | 265 | chr8 | TogoVar | ||||||
POU5F1B_chr8_127410867_127421946 | 127417211 | G | GAAAGAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp1 HG00558.hp2 others(108): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0000a0002c0002t0000a0003c0006t0000 | a0001c0001t0000g0000a0002c0002t0000g0000a0003c0006t0000g0000 | 111 | 440 | 0.2523 | 9 | c.*26 others(18): Show |
POU5F1B | ENSG00000212993.6 | transcript | ENST00000696633.1 | protein_coding | 266 | chr8 | TogoVar | ||||||
POU5F2_chr5_93728220_93746600 | 93744434 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 HG01261.hp1 HG02055.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0000a0001c0001t0004g0000a0001c0001t0005g0000others(4): Show | 24 | 374 | 0.0642 | 9 | c.-28 others(20): Show |
POU5F2 | ENSG00000248483.7 | transcript | ENST00000606183.4 | protein_coding | 2835 | chr5 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 38996035 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG02071.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0002a0002c0003t0001a0002c0004t0003others(1): Show | a0001c0001t0002g0068a0001c0001t0002g0074a0002c0003t0001g0067others(2): Show | 5 | 170 | 0.0294 | 9 | c.105 others(28): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
POU6F2_chr7_38972909_39473601 | 39002336 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00673.hp2 HG02071.hp1 others(14): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(8): Show | a0001c0001t0002g0068a0001c0001t0002g0074a0001c0001t0002g0139others(14): Show | 17 | 170 | 0.1000 | 9 | c.105 others(28): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
POU6F2_chr7_38972909_39473601 | 39190417 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02630.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0004a0001c0005t0001others(1): Show | a0001c0001t0002g0003a0001c0001t0004g0093a0001c0005t0001g0002others(2): Show | 5 | 170 | 0.0294 | 9 | c.278 others(28): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
POU6F2_chr7_38972909_39473601 | 39382043 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | NA18950.hp1 NA19080.hp2 |
a0001 | a0001c0007 | a0001c0007t0001a0001c0007t0010 | a0001c0007t0001g0071a0001c0007t0010g0044 | 2 | 170 | 0.0118 | 9 | c.973 others(28): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
PPA1_chr10_70197835_70238429 | 70221077 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0122 | 3 | 408 | 0.0074 | 9 | c.124 others(26): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46198237 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01433.hp1 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(8): Show | a0001c0001t0001g0080a0001c0001t0001g0095a0001c0001t0001g0171others(12): Show | 15 | 200 | 0.0750 | 9 | c.-42 others(22): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPARD_chr6_35337558_35433178 | 35377871 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02896.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(2): Show | a0001c0001t0001g0085a0001c0002t0002g0002a0001c0002t0004g0003others(8): Show | 11 | 238 | 0.0462 | 9 | c.-10 others(30): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPARD_chr6_35337558_35433178 | 35404951 | C | CGTGTGTG others(2): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02622.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0021a0001c0002t0006 | a0001c0001t0021g0046a0001c0002t0006g0027 | 2 | 238 | 0.0084 | 9 | c.-10 others(28): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 2/7 | chr6 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149799693 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01069.hp1 others(38): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0220a0001c0001t0001g0240a0001c0001t0001g0312others(38): Show | 41 | 320 | 0.1281 | 9 | c.79- others(26): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPARGC1B_chr5_149725310_149860022 | 149809379 | A | ATCTCTAC others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02273.hp1 HG03017.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0022 | a0001c0001t0020a0001c0004t0006a0001c0004t0030others(1): Show | a0001c0001t0020g0137a0001c0004t0006g0210a0001c0004t0030g0114others(1): Show | 4 | 320 | 0.0125 | 9 | c.79- others(26): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPARG_chr3_12284070_12439344 | 12298298 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01243.hp1 HG01978.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(4): Show | 7 | 294 | 0.0238 | 9 | c.-83 others(26): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPARG_chr3_12284070_12439344 | 12298324 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01261.hp2 HG01978.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0061others(4): Show | 7 | 294 | 0.0238 | 9 | c.-83 others(26): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPARG_chr3_12284070_12439344 | 12406532 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | NA18959.hp1 NA18979.hp1 NA18982.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0009others(4): Show | 7 | 294 | 0.0238 | 9 | c.729 others(24): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPEF1_chrX_18702645_18832917 | 18713420 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG03927.hp2 NA18957.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197a0001c0001t0001g0198 | 2 | 224 | 0.0089 | 9 | c.46+ others(24): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PPEF1_chrX_18702645_18832917 | 18809501 | T | TTCGTGAC others(2): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 224 | 0.0045 | 9 | c.139 others(28): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PPEF2_chr4_75854867_75907452 | 75893861 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(149): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0020a0002c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0002a0001c0001t0001g0058a0001c0001t0001g0059others(148): Show | 152 | 270 | 0.5630 | 9 | c.56- others(24): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 2/16 | chr4 | TogoVar | ||||||
PPEF2_chr4_75854867_75907452 | 75903018 | C | CATTATTA others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(77): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0020others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0058a0001c0001t0001g0060a0001c0001t0001g0061others(77): Show | 80 | 270 | 0.2963 | 9 | c.-84 others(18): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 567 | chr4 | TogoVar | ||||||
PPFIA3_chr19_49114544_49156026 | 49154632 | T | TTCCTCCT others(2): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG02630.hp1 HG02723.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0018a0002c0002 | a0001c0001t0001a0001c0018t0001a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0046others(5): Show | 11 | 362 | 0.0304 | 9 | c.*44 others(20): Show |
PPFIA3 | ENSG00000177380.14 | transcript | ENST00000334186.9 | protein_coding | 3607 | chr19 | TogoVar | ||||||
PPFIBP1_chr12_27519206_27700564 | 27563277 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01891.hp2 HG02027.hp2 others(23): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0018a0001c0001t0001g0040a0001c0001t0001g0102others(23): Show | 26 | 314 | 0.0828 | 9 | c.-12 others(30): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPFIBP1_chr12_27519206_27700564 | 27644244 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01993.hp2 NA18747.hp2 NA18966.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0011 | a0001c0001t0001a0001c0001t0003a0005c0011t0001 | a0001c0001t0001g0285a0001c0001t0003g0042a0001c0001t0003g0083others(3): Show | 6 | 314 | 0.0191 | 9 | c.271 others(26): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPFIBP1_chr12_27519206_27700564 | 27670782 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01099.hp1 HG02165.hp1 others(18): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0040a0001c0001t0001g0073others(18): Show | 21 | 314 | 0.0669 | 9 | c.114 others(26): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 13/29 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPHLN1_chr12_42321167_42447181 | 42348301 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01168.hp2 HG02976.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0046a0001c0001t0001g0074others(4): Show | 7 | 376 | 0.0186 | 9 | c.73- others(24): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 2/9 | chr12 | TogoVar | ||||||
PPHLN1_chr12_42321167_42447181 | 42411903 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp2 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0008others(46): Show | 49 | 376 | 0.1303 | 9 | c.909 others(28): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPHLN1_chr12_42321167_42447181 | 42426229 | C | CACACACA others(2): Show |
intron_variant | MODIFIER | NA19057.hp2 NA19070.hp1 NA19077.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313a0001c0001t0001g0320a0001c0001t0001g0340 | 3 | 376 | 0.0080 | 9 | c.910 others(28): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 9/9 | chr12 | TogoVar | ||||||
PPIAL4C_chr1_149578848_149589607 | 149583467 | G | GAAAGAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 NA18949.hp1 NA18949.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0000a0002c0002t0002g0000 | 3 | 448 | 0.0067 | 9 | c.-43 others(18): Show |
PPIAL4C | ENSG00000288867.1 | transcript | ENST00000585245.3 | protein_coding | 380 | chr1 | TogoVar | ||||||
PPIAL4D_chr1_145236415_145247174 | 145242474 | C | CTTTCTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 HG01074.hp1 HG01515.hp2 others(8): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0003 | a0001c0001t0001a0001c0004t0002a0003c0003t0001 | a0001c0001t0001g0000a0001c0004t0002g0000a0003c0003t0001g0000 | 11 | 396 | 0.0278 | 9 | c.-35 others(18): Show |
PPIAL4D | ENSG00000289549.1 | transcript | ENST00000544708.3 | protein_coding | 301 | chr1 | TogoVar | ||||||
PPIAL4G_chr1_148477548_148488302 | 148483611 | C | CTTTCTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02698.hp2 NA19003.hp1 NA19088.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 3 | 450 | 0.0067 | 9 | c.-36 others(18): Show |
PPIAL4G | ENSG00000236334.3 | transcript | ENST00000419275.3 | protein_coding | 310 | chr1 | TogoVar | ||||||
PPIAL4G_chr1_148477548_148488302 | 148483613 | T | TTCTTTCT others(2): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG02683.hp1 HG02897.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0000a0002c0002t0002g0000 | 10 | 450 | 0.0222 | 9 | c.-36 others(18): Show |
PPIAL4G | ENSG00000236334.3 | transcript | ENST00000419275.3 | protein_coding | 312 | chr1 | TogoVar | ||||||
PPIAL4H_chr1_146339006_146349765 | 146341270 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 HG02055.hp2 HG02886.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0000 | 6 | 416 | 0.0144 | 9 | c.*29 others(20): Show |
PPIAL4H | ENSG00000270339.4 | transcript | ENST00000584068.4 | protein_coding | 2735 | chr1 | TogoVar | ||||||
PPID_chr4_158704127_158728396 | 158709019 | T | TGTGTGTG others(2): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG03130.hp1 HG04204.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0037a0001c0001t0001g0071a0002c0002t0002g0002 | 4 | 348 | 0.0115 | 9 | c.*71 others(18): Show |
PPID | ENSG00000171497.5 | transcript | ENST00000307720.4 | protein_coding | 107 | chr4 | TogoVar | ||||||
PPIG_chr2_169579351_169646406 | 169606591 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00609.hp2 others(106): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0008 | a0001c0001t0005a0001c0001t0007a0002c0002t0001others(5): Show | a0001c0001t0005g0336a0001c0001t0005g0340a0001c0001t0005g0341others(103): Show | 109 | 382 | 0.2853 | 9 | c.244 others(24): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PPIG_chr2_169579351_169646406 | 169632747 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02615.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0007a0001c0001t0013others(3): Show | a0001c0001t0002g0067a0001c0001t0007g0009a0001c0001t0007g0091others(7): Show | 11 | 382 | 0.0288 | 9 | c.930 others(24): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PPIL3_chr2_200865907_200894077 | 200884150 | G | GCCTGTAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(148): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0014others(99): Show | 151 | 336 | 0.4494 | 9 | c.78+ others(24): Show |
PPIL3 | ENSG00000240344.10 | transcript | ENST00000392283.9 | protein_coding | 3/6 | chr2 | TogoVar | ||||||
PPL_chr16_4877507_4942148 | 4909424 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01123.hp1 HG02258.hp2 HG02818.hp1 others(6): Show |
a0002a0006a0007 | a0002c0002a0002c0006a0002c0007others(3): Show | a0002c0002t0002a0002c0006t0003a0002c0007t0003others(3): Show | a0002c0002t0002g0146a0002c0006t0003g0297a0002c0006t0003g0302others(6): Show | 9 | 372 | 0.0242 | 9 | c.162 others(26): Show |
PPL | ENSG00000118898.16 | transcript | ENST00000345988.7 | protein_coding | 2/21 | chr16 | TogoVar | ||||||
PPM1B_chr2_44163875_44236472 | 44169088 | A | AGGCGGCA others(2): Show |
5_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02896.hp2 HG02897.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0030a0001c0001t0003g0345a0001c0001t0003g0346others(3): Show | 6 | 358 | 0.0168 | 9 | c.-19 others(18): Show |
PPM1B | ENSG00000138032.21 | transcript | ENST00000282412.9 | protein_coding | 1/6 | 32104 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
PPM1B_chr2_44163875_44236472 | 44169140 | C | CCGGAGGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(279): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(272): Show | 282 | 358 | 0.7877 | 9 | c.-14 others(18): Show |
PPM1B | ENSG00000138032.21 | transcript | ENST00000282412.9 | protein_coding | 1/6 | 32047 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
PPM1E_chr17_58750854_58990179 | 58830292 | G | GTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG01261.hp2 others(10): Show |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0240a0001c0001t0001g0241a0001c0001t0001g0242others(10): Show | 13 | 312 | 0.0417 | 9 | c.464 others(28): Show |
PPM1E | ENSG00000175175.6 | transcript | ENST00000308249.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PPM1E_chr17_58750854_58990179 | 58873565 | G | GTATTATT others(2): Show |
intron_variant | MODIFIER | HG03927.hp1 NA18612.hp1 NA18939.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001a0002c0002t0004 | a0001c0001t0003g0256a0001c0001t0003g0257a0002c0002t0001g0015others(7): Show | 10 | 312 | 0.0321 | 9 | c.465 others(28): Show |
PPM1E | ENSG00000175175.6 | transcript | ENST00000308249.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |