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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
POLR2M_chr15_57701714_57722557 | 57713820 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0125 | 1 | 404 | 0.0025 | -22 | c.964 others(37): Show |
POLR2M | ENSG00000255529.9 | transcript | ENST00000299638.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
POLR3G_chr5_90469864_90519557 | 90493676 | ATTTTTTT others(15): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(37): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0254a0001c0001t0001g0286a0001c0001t0003g0160others(35): Show | 40 | 366 | 0.1093 | -22 | c.248 others(39): Show |
POLR3G | ENSG00000113356.13 | transcript | ENST00000651687.1 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
POLR3K_chr16_41407_58608 | 52446 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | NA18949.hp2 NA18955.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170a0001c0001t0001g0214 | 2 | 432 | 0.0046 | -22 | c.112 others(37): Show |
POLR3K | ENSG00000161980.6 | transcript | ENST00000293860.6 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
POM121_chr7_72920095_72953299 | 72950399 | GTGGGAGC others(15): Show |
G | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0021 | a0021c0024 | a0021c0024t0007 | a0021c0024t0007g0152 | 1 | 424 | 0.0024 | -22 | c.*41 others(33): Show |
POM121 | ENSG00000196313.13 | transcript | ENST00000434423.5 | protein_coding | 2101 | chr7 | TogoVar | ||||||
POMGNT2_chr3_43074234_43111079 | 43085466 | AGATCTGA others(15): Show |
A | intron_variant | MODIFIER | HG01981.hp2 HG02451.hp2 HG02615.hp1 others(17): Show |
a0001 | a0001c0003a0001c0010a0001c0016 | a0001c0003t0001a0001c0010t0001a0001c0016t0001 | a0001c0003t0001g0009a0001c0003t0001g0013a0001c0003t0001g0022others(5): Show | 20 | 378 | 0.0529 | -22 | c.-10 others(41): Show |
POMGNT2 | ENSG00000144647.7 | transcript | ENST00000344697.3 | protein_coding | 1/1 | chr3 | TogoVar | ||||||
POMT1_chr9_131497918_131528799 | 131504755 | ATGTGTGT others(15): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02723.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0048a0001c0007t0002g0049 | 4 | 334 | 0.0120 | -22 | c.122 others(37): Show |
POMT1 | ENSG00000130714.19 | transcript | ENST00000402686.8 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
POPDC3_chr6_105152900_105185014 | 105181181 | GTGTGTAT others(15): Show |
G | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 258 | 0.0039 | -22 | c.-16 others(33): Show |
POPDC3 | ENSG00000132429.10 | transcript | ENST00000254765.4 | protein_coding | 1168 | chr6 | TogoVar | ||||||
POPDC3_chr6_105152900_105185014 | 105181183 | GTGTATAT others(15): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01069.hp2 HG01168.hp1 others(1): Show |
a0002 | a0002c0003 | a0002c0003t0005a0002c0003t0016 | a0002c0003t0005g0012a0002c0003t0016g0057 | 4 | 258 | 0.0155 | -22 | c.-16 others(33): Show |
POPDC3 | ENSG00000132429.10 | transcript | ENST00000254765.4 | protein_coding | 1170 | chr6 | TogoVar | ||||||
POPDC3_chr6_105152900_105185014 | 105181185 | GTATATAT others(15): Show |
G | upstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0053 | 1 | 258 | 0.0039 | -22 | c.-16 others(33): Show |
POPDC3 | ENSG00000132429.10 | transcript | ENST00000254765.4 | protein_coding | 1172 | chr6 | TogoVar | ||||||
POR_chr7_75910155_75991855 | 75934122 | AGTGTGTG others(15): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG01884.hp1 others(18): Show |
a0001 | a0001c0006a0001c0007a0001c0009others(2): Show | a0001c0006t0001a0001c0007t0001a0001c0007t0005others(3): Show | a0001c0006t0001g0007a0001c0006t0001g0235a0001c0006t0001g0236others(18): Show | 21 | 278 | 0.0755 | -22 | c.-14 others(41): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
POR_chr7_75910155_75991855 | 75959803 | GGATTGAA others(15): Show |
G | intron_variant | MODIFIER | NA19084.hp2 | a0009 | a0009c0018 | a0009c0018t0002 | a0009c0018t0002g0163 | 1 | 278 | 0.0036 | -22 | c.179 others(39): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
POT1_chr7_124817386_124934825 | 124844050 | TATCAGAG others(15): Show |
T | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0185 | 1 | 346 | 0.0029 | -22 | c.100 others(41): Show |
POT1 | ENSG00000128513.16 | transcript | ENST00000357628.8 | protein_coding | 12/18 | chr7 | TogoVar | ||||||
POTEB3_chr15_21400401_21445499 | 21404904 | CTCTTTTT others(15): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG01346.hp1 others(3): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0016 | a0001c0001t0001a0001c0001t0024a0001c0001t0025others(2): Show | a0001c0001t0001g0022a0001c0001t0001g0028a0001c0001t0024g0020others(3): Show | 6 | 54 | 0.1111 | -22 | c.*40 others(33): Show |
POTEB3 | ENSG00000278522.5 | transcript | ENST00000611217.5 | protein_coding | 496 | chr15 | TogoVar | ||||||
POTEB_chr15_21841329_21882735 | 21871388 | CACACACA others(15): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01978.hp2 |
a0004 | a0004c0003 | a0004c0003t0004 | a0004c0003t0004g0044a0004c0003t0004g0045 | 2 | 64 | 0.0313 | -22 | c.699 others(37): Show |
POTEB | ENSG00000233917.9 | transcript | ENST00000439682.2 | protein_coding | 3/10 | chr15 | TogoVar | ||||||
POTEC_chr18_14502339_14548600 | 14537192 | CACACACA others(15): Show |
C | intron_variant | MODIFIER | NA19080.hp2 | a0006 | a0006c0009 | a0006c0009t0010 | a0006c0009t0010g0184 | 1 | 388 | 0.0026 | -22 | c.810 others(37): Show |
POTEC | ENSG00000183206.18 | transcript | ENST00000358970.10 | protein_coding | 3/10 | chr18 | TogoVar | ||||||
POTEC_chr18_14502339_14548600 | 14543056 | GGTGGTGA others(15): Show |
G | frameshift_variant | HIGH | HG02970.hp2 | a0023 | a0023c0026 | a0023c0026t0008 | a0023c0026t0008g0196 | 1 | 388 | 0.0026 | -22 | c.69_ others(27): Show |
p.Lys others(4): Show |
POTEC | ENSG00000183206.18 | transcript | ENST00000358970.10 | protein_coding | 1/11 | 544/6642 | 69/1629 | 23/542 | chr18 | TogoVar | ||
POTEG_chr14_19397486_19439341 | 19432362 | TTTTGTAT others(15): Show |
T | intron_variant | MODIFIER | HG01071.hp2 HG01099.hp1 HG01099.hp2 others(12): Show |
a0001a0009a0025 | a0001c0001a0009c0008a0025c0036 | a0001c0001t0001a0001c0001t0019a0001c0001t0020others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0052a0001c0001t0001g0053others(11): Show | 15 | 111 | 0.1351 | -22 | c.521 others(39): Show |
POTEG | ENSG00000187537.13 | transcript | ENST00000547848.5 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
POTEI_chr2_130454455_130514328 | 130507303 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(24): Show |
a0001a0008a0024 | a0001c0001a0001c0014a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0012others(5): Show | a0001c0001t0001g0003a0001c0001t0001g0027a0001c0001t0001g0035others(23): Show | 27 | 125 | 0.2160 | -22 | c.521 others(39): Show |
POTEI | ENSG00000196834.14 | transcript | ENST00000451531.7 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
POTEJ_chr2_130606440_130663037 | 130613258 | ATATATAC others(15): Show |
A | intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0007 | 2 | 131 | 0.0153 | -22 | c.410 others(39): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
POU2AF1_chr11_111347255_111384275 | 111372049 | CACACACA others(15): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0158 | 1 | 384 | 0.0026 | -22 | c.16+ others(37): Show |
POU2AF1 | ENSG00000110777.12 | transcript | ENST00000393067.8 | protein_coding | 1/4 | chr11 | TogoVar | ||||||
POU2AF2_chr11_111240725_111291401 | 111264552 | GAAAGAAA others(15): Show |
G | intron_variant | MODIFIER | HG01192.hp2 HG01361.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0201a0001c0001t0003g0189 | 2 | 380 | 0.0053 | -22 | c.120 others(39): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
POU2AF2_chr11_111240725_111291401 | 111264555 | AGAAAGAA others(15): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG01070.hp1 HG01071.hp1 others(14): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0002 | a0001c0001t0001g0004a0001c0001t0001g0268a0001c0001t0002g0263others(13): Show | 17 | 380 | 0.0447 | -22 | c.120 others(39): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
POU2AF2_chr11_111240725_111291401 | 111268480 | TTATTTTA others(15): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0347 | 1 | 380 | 0.0026 | -22 | c.120 others(41): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
POU2F1_chr1_167215886_167432340 | 167343632 | ATTTTTTT others(15): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(119): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0010a0001c0001t0001g0120a0001c0001t0001g0121others(119): Show | 122 | 292 | 0.4178 | -22 | c.127 others(41): Show |
POU2F1 | ENSG00000143190.23 | transcript | ENST00000367866.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
POU2F3_chr11_120235140_120324945 | 120283772 | CGTGTGTG others(15): Show |
C | intron_variant | MODIFIER | HG02559.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0053 | 1 | 320 | 0.0031 | -22 | c.133 others(41): Show |
POU2F3 | ENSG00000137709.10 | transcript | ENST00000543440.7 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
POU2F3_chr11_120235140_120324945 | 120308938 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG01261.hp1 HG01361.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251a0001c0001t0001g0252a0001c0001t0001g0254 | 3 | 320 | 0.0094 | -22 | c.907 others(37): Show |
POU2F3 | ENSG00000137709.10 | transcript | ENST00000543440.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
POU6F2_chr7_38972909_39473601 | 39030500 | CTATATAT others(15): Show |
C | intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0106 | 1 | 170 | 0.0059 | -22 | c.105 others(41): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
POU6F2_chr7_38972909_39473601 | 39185805 | ATATGTAT others(15): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG02976.hp1 others(1): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0013 | a0001c0002t0001g0089a0001c0002t0001g0090a0001c0005t0013g0080others(1): Show | 4 | 170 | 0.0235 | -22 | c.278 others(41): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
POU6F2_chr7_38972909_39473601 | 39454655 | GATATATA others(15): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG01243.hp1 HG02056.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(3): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(4): Show | a0001c0001t0002g0095a0001c0001t0005g0023a0001c0002t0001g0012others(4): Show | 7 | 170 | 0.0412 | -22 | c.148 others(41): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
POU6F2_chr7_38972909_39473601 | 39470584 | TACACACA others(15): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00673.hp1 others(68): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(17): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0035others(68): Show | 71 | 170 | 0.4177 | -22 | c.*58 others(33): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1984 | chr7 | TogoVar | ||||||
PP2D1_chr3_19980346_20017264 | 20012919 | ATACACAT others(15): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02257.hp1 others(8): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0004a0004c0005t0004 | a0001c0001t0004g0159a0004c0005t0004g0007a0004c0005t0004g0158others(1): Show | 11 | 396 | 0.0278 | -22 | c.-86 others(31): Show |
PP2D1 | ENSG00000183977.14 | transcript | ENST00000389050.5 | protein_coding | 656 | chr3 | TogoVar | ||||||
PPA1_chr10_70197835_70238429 | 70220583 | TTATATAT others(15): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG01978.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026a0001c0001t0001g0197 | 3 | 408 | 0.0074 | -22 | c.124 others(39): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
PPA1_chr10_70197835_70238429 | 70220613 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0345 | 1 | 408 | 0.0025 | -22 | c.124 others(39): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
PPA1_chr10_70197835_70238429 | 70220695 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 408 | 0.0025 | -22 | c.124 others(39): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
PPA1_chr10_70197835_70238429 | 70220945 | ATTTATAT others(15): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201a0001c0001t0001g0218 | 2 | 408 | 0.0049 | -22 | c.124 others(39): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
PPA2_chr4_105364077_105479062 | 105443591 | TCACACAC others(15): Show |
T | intron_variant | MODIFIER | NA18965.hp2 NA18978.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149a0001c0001t0001g0150 | 2 | 366 | 0.0055 | -22 | c.441 others(39): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 5/11 | chr4 | TogoVar | ||||||
PPA2_chr4_105364077_105479062 | 105449216 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG02602.hp1 HG03130.hp2 |
a0002a0007 | a0002c0002a0007c0010 | a0002c0002t0001a0007c0010t0002 | a0002c0002t0001g0226a0007c0010t0002g0032 | 2 | 366 | 0.0055 | -22 | c.321 others(37): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 4/11 | chr4 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46185914 | AAAATATA others(15): Show |
A | intron_variant | MODIFIER | HG01943.hp2 HG02647.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0066 | a0001c0001t0004g0051a0001c0001t0004g0151a0001c0001t0004g0172others(1): Show | 4 | 200 | 0.0200 | -22 | c.-43 others(39): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPARA_chr22_46145526_46248755 | 46185944 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG02698.hp1 NA18993.hp1 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0009 | a0001c0001t0001g0110a0004c0008t0009g0146 | 2 | 200 | 0.0100 | -22 | c.-43 others(39): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
PPARD_chr6_35337558_35433178 | 35380459 | GTTTTTTT others(15): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG02055.hp1 HG02486.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004a0001c0002t0006 | a0001c0001t0001g0001a0001c0001t0001g0063a0001c0001t0001g0064others(12): Show | 16 | 238 | 0.0672 | -22 | c.-10 others(43): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPARGC1B_chr5_149725310_149860022 | 149830033 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0030 | a0001c0030t0031 | a0001c0030t0031g0320 | 1 | 320 | 0.0031 | -22 | c.466 others(37): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PPAT_chr4_56388362_56440615 | 56437256 | GGTGTGTG others(15): Show |
G | upstream_gene_variant | MODIFIER | HG00609.hp1 HG02083.hp2 NA18966.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0023 | a0001c0002t0003g0002a0001c0002t0003g0006a0001c0002t0003g0097others(2): Show | 6 | 384 | 0.0156 | -22 | c.-18 others(33): Show |
PPAT | ENSG00000128059.8 | transcript | ENST00000264220.6 | protein_coding | 1642 | chr4 | TogoVar | ||||||
PPBP_chr4_73981439_73993190 | 73982164 | CAAAAAAA others(15): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01496.hp1 HG02293.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0005 | 9 | 368 | 0.0245 | -22 | c.*50 others(33): Show |
PPBP | ENSG00000163736.4 | transcript | ENST00000296028.4 | protein_coding | 4274 | chr4 | TogoVar | ||||||
PPCDC_chr15_75018590_75055726 | 75026312 | AGAAGCTG others(15): Show |
A | intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 398 | 0.0025 | -22 | c.-72 others(39): Show |
PPCDC | ENSG00000138621.12 | transcript | ENST00000342932.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
PPEF1_chrX_18702645_18832917 | 18821758 | CGAGAGAG others(15): Show |
C | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 224 | 0.0045 | -22 | c.150 others(41): Show |
PPEF1 | ENSG00000086717.19 | transcript | ENST00000470157.2 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PPFIA2_chr12_81252975_81764350 | 81415204 | AAAAAAAA others(15): Show |
A | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0086 | 1 | 168 | 0.0060 | -22 | c.646 others(39): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 7/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81415210 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG02630.hp1 NA19081.hp2 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0009a0001c0002t0003g0018 | 2 | 168 | 0.0119 | -22 | c.646 others(39): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 7/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81422132 | ATATATGT others(15): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG01257.hp1 HG02004.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0068a0001c0001t0001g0087a0001c0001t0001g0093others(26): Show | 29 | 168 | 0.1726 | -22 | c.646 others(41): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 7/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81493750 | GTGTCTAT others(15): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG01496.hp2 HG02083.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0093a0001c0001t0001g0101a0001c0001t0001g0142others(6): Show | 9 | 168 | 0.0536 | -22 | c.304 others(41): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | ||||||
PPFIA2_chr12_81252975_81764350 | 81585058 | TTATATAA others(15): Show |
T | intron_variant | MODIFIER | HG02155.hp2 HG03017.hp1 NA19062.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0031a0001c0001t0001g0062a0001c0001t0001g0065others(2): Show | 5 | 168 | 0.0298 | -22 | c.303 others(41): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar |