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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
POR_chr7_75910155_75991855 | 75989111 | GGGGGCTA others(8): Show |
G | downstream_gene_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0271 | 1 | 278 | 0.0036 | -15 | c.*26 others(26): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2257 | chr7 | TogoVar | |||||||
POT1_chr7_124817386_124934825 | 124877840 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0157 | 1 | 346 | 0.0029 | -15 | c.125 others(32): Show |
POT1 | ENSG00000128513.16 | transcript | ENST00000357628.8 | protein_coding | 6/18 | chr7 | TogoVar | |||||||
POTEB3_chr15_21400401_21445499 | 21404904 | CTCTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01993.hp2 | a0007 | a0007c0009 | a0007c0009t0004 | a0007c0009t0004g0029 | 1 | 54 | 0.0185 | -15 | c.*40 others(26): Show |
POTEB3 | ENSG00000278522.5 | transcript | ENST00000611217.5 | protein_coding | 496 | chr15 | TogoVar | |||||||
POTEG_chr14_19397486_19439341 | 19402057 | CTTCATGA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01261.hp2 | a0005 | a0005c0004 | a0005c0004t0007 | a0005c0004t0007g0006 | 1 | 111 | 0.0090 | -15 | c.*10 others(26): Show |
POTEG | ENSG00000187537.13 | transcript | ENST00000547848.5 | protein_coding | 428 | chr14 | TogoVar | |||||||
POU2AF2_chr11_111240725_111291401 | 111264562 | AAGAAAGA others(8): Show |
A | intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0357 | 1 | 380 | 0.0026 | -15 | c.120 others(32): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
POU2AF2_chr11_111240725_111291401 | 111268477 | TTTTTATT others(8): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG01192.hp2 HG01981.hp1 others(7): Show |
a0001a0006 | a0001c0001a0001c0004a0006c0007 | a0001c0001t0003a0001c0004t0001a0006c0007t0003 | a0001c0001t0003g0159 a0001c0001t0003g0186 a0001c0001t0003g0188 others(7): Show |
10 | 380 | 0.0263 | -15 | c.120 others(34): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU2AF2_chr11_111240725_111291401 | 111276448 | AAAAAAAT others(8): Show |
A | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0367 | 1 | 380 | 0.0026 | -15 | c.121 others(32): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU2AF2_chr11_111240725_111291401 | 111276450 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp1 HG02809.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0085 others(4): Show |
7 | 380 | 0.0184 | -15 | c.121 others(32): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU2AF2_chr11_111240725_111291401 | 111276452 | AAATATAT others(8): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0345 | 1 | 380 | 0.0026 | -15 | c.121 others(32): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU2AF3_chr11_111293546_111313735 | 111308995 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01257.hp1 HG03017.hp2 NA18987.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0002 a0001c0001t0003g0001 a0001c0002t0001g0013 others(1): Show |
4 | 468 | 0.0086 | -15 | c.*55 others(24): Show |
POU2AF3 | ENSG00000214290.9 | transcript | ENST00000610738.6 | protein_coding | 261 | chr11 | TogoVar | |||||||
POU2F1_chr1_167215886_167432340 | 167393984 | CATTTTAT others(8): Show |
C | intron_variant | MODIFIER | HG01358.hp2 HG02109.hp1 HG02258.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010a0001c0001t0033others(1): Show | a0001c0001t0009g0014 a0001c0001t0010g0092 a0001c0001t0010g0093 others(2): Show |
5 | 292 | 0.0171 | -15 | c.988 others(32): Show |
POU2F1 | ENSG00000143190.23 | transcript | ENST00000367866.7 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
POU2F3_chr11_120235140_120324945 | 120304942 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(72): Show |
a0001a0002a0003 | a0001c0001a0001c0011a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(10): Show | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0018 others(72): Show |
75 | 320 | 0.2344 | -15 | c.445 others(28): Show |
POU2F3 | ENSG00000137709.10 | transcript | ENST00000543440.7 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU2F3_chr11_120235140_120324945 | 120308938 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(46): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0022 a0001c0001t0001g0100 a0001c0001t0001g0136 others(46): Show |
49 | 320 | 0.1531 | -15 | c.907 others(30): Show |
POU2F3 | ENSG00000137709.10 | transcript | ENST00000543440.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU2F3_chr11_120235140_120324945 | 120316696 | GGCTACAG others(8): Show |
G | intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 320 | 0.0031 | -15 | c.113 others(32): Show |
POU2F3 | ENSG00000137709.10 | transcript | ENST00000543440.7 | protein_coding | 11/12 | chr11 | TogoVar | |||||||
POU3F3_chr2_104849115_104863574 | 104855420 | CGCGGCGG others(8): Show |
C | 5_prime_UTR_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0000 | 1 | 406 | 0.0025 | -15 | c.-79 others(22): Show |
POU3F3 | ENSG00000198914.5 | transcript | ENST00000361360.4 | protein_coding | 1/1 | 65 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
POU3F3_chr2_104849115_104863574 | 104863159 | AATTATTA others(8): Show |
A | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02523.hp2 |
a0001 | a0001c0002a0001c0022 | a0001c0002t0002a0001c0022t0002 | a0001c0002t0002g0000 a0001c0022t0002g0000 |
2 | 406 | 0.0049 | -15 | c.*61 others(26): Show |
POU3F3 | ENSG00000198914.5 | transcript | ENST00000361360.4 | protein_coding | 4586 | chr2 | TogoVar | |||||||
POU4F1_chr13_78593362_78608552 | 78602188 | GGCCGCCG others(8): Show |
G | conservative_inframe_deletion | MODERATE | HG04184.hp2 NA18983.hp2 |
a0002 | a0002c0006a0002c0007 | a0002c0006t0005a0002c0007t0001 | a0002c0006t0005g0027 a0002c0007t0001g0028 |
2 | 432 | 0.0046 | -15 | c.472 others(22): Show |
p.Gly others(13): Show |
POU4F1 | ENSG00000152192.8 | transcript | ENST00000377208.7 | protein_coding | 2/2 | 712/4539 | 472/1260 | 158/419 | chr13 | TogoVar | |||
POU4F3_chr5_146333839_146346728 | 146334326 | ATCTTGAG others(8): Show |
A | upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 352 | 0.0028 | -15 | c.-47 others(26): Show |
POU4F3 | ENSG00000091010.6 | transcript | ENST00000646991.2 | protein_coding | 4512 | chr5 | TogoVar | |||||||
POU6F2_chr7_38972909_39473601 | 39015675 | ATCTATGT others(8): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02895.hp1 NA21309.hp1 |
a0001a0002 | a0001c0001a0001c0005a0002c0008 | a0001c0001t0002a0001c0005t0001a0002c0008t0030 | a0001c0001t0002g0003 a0001c0005t0001g0151 a0002c0008t0030g0051 |
3 | 170 | 0.0177 | -15 | c.105 others(34): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39412778 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0008 | a0002c0008t0006 | a0002c0008t0006g0070 | 1 | 170 | 0.0059 | -15 | c.111 others(34): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PPA2_chr4_105364077_105479062 | 105393485 | AAATAATA others(8): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(73): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0007a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0007g0099 a0001c0001t0007g0100 a0001c0001t0007g0101 others(73): Show |
76 | 366 | 0.2077 | -15 | c.869 others(32): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
PPA2_chr4_105364077_105479062 | 105419139 | TTTTTGTT others(8): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 366 | 0.0027 | -15 | c.655 others(32): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 7/11 | chr4 | TogoVar | |||||||
PPA2_chr4_105364077_105479062 | 105449216 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0099 a0001c0001t0007g0100 |
2 | 366 | 0.0055 | -15 | c.321 others(30): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 4/11 | chr4 | TogoVar | |||||||
PPA2_chr4_105364077_105479062 | 105452909 | CATTTAGA others(8): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG01106.hp2 others(30): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0104 a0001c0001t0002g0105 a0001c0001t0002g0106 others(30): Show |
33 | 366 | 0.0902 | -15 | c.267 others(30): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
PPARA_chr22_46145526_46248755 | 46146416 | AAAGAGAA others(8): Show |
A | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG01069.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0069 a0001c0001t0001g0072 a0001c0001t0001g0110 others(18): Show |
21 | 200 | 0.1050 | -15 | c.-44 others(26): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4109 | chr22 | TogoVar | |||||||
PPARA_chr22_46145526_46248755 | 46157094 | GCACCCCT others(8): Show |
G | intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0198 | 1 | 200 | 0.0050 | -15 | c.-12 others(34): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 2/8 | chr22 | TogoVar | |||||||
PPARA_chr22_46145526_46248755 | 46159411 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0175 | 1 | 200 | 0.0050 | -15 | c.-12 others(34): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46185913 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0002 | 1 | 200 | 0.0050 | -15 | c.-43 others(32): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46185915 | AAATATAT others(8): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0156 | 1 | 200 | 0.0050 | -15 | c.-43 others(32): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46205535 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG01433.hp1 HG01516.hp2 |
a0003 | a0003c0003 | a0003c0003t0010a0003c0003t0036 | a0003c0003t0010g0043 a0003c0003t0036g0013 |
2 | 200 | 0.0100 | -15 | c.208 others(32): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4/8 | chr22 | TogoVar | |||||||
PPARA_chr22_46145526_46248755 | 46205542 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0077 | a0001c0001t0077g0004 | 1 | 200 | 0.0050 | -15 | c.208 others(32): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46207644 | TTTATTAT others(8): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0190 | 1 | 200 | 0.0050 | -15 | c.209 others(32): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPARD_chr6_35337558_35433178 | 35420819 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01175.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0021a0001c0001t0022a0001c0002t0003others(6): Show | a0001c0001t0021g0046 a0001c0001t0022g0079 a0001c0002t0003g0013 others(30): Show |
33 | 238 | 0.1387 | -15 | c.285 others(30): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPARGC1A_chr4_23787021_23895047 | 23811889 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp1 HG01099.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0016a0001c0001t0045a0001c0001t0052others(9): Show | a0001c0001t0016g0036 a0001c0001t0045g0184 a0001c0001t0052g0178 others(26): Show |
29 | 342 | 0.0848 | -15 | c.201 others(32): Show |
PPARGC1A | ENSG00000109819.9 | transcript | ENST00000264867.7 | protein_coding | 10/12 | chr4 | TogoVar | |||||||
PPARGC1A_chr4_23787021_23895047 | 23859780 | CAAAATAA others(8): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01106.hp1 HG01106.hp2 others(30): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(14): Show | a0001c0001t0002g0091 a0001c0001t0002g0092 a0001c0001t0007g0001 others(29): Show |
33 | 342 | 0.0965 | -15 | c.234 others(34): Show |
PPARGC1A | ENSG00000109819.9 | transcript | ENST00000264867.7 | protein_coding | 2/12 | chr4 | TogoVar | |||||||
PPARG_chr3_12284070_12439344 | 12298298 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 294 | 0.0034 | -15 | c.-83 others(32): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PPARG_chr3_12284070_12439344 | 12397378 | TTTATTAT others(8): Show |
T | intron_variant | MODIFIER | HG01074.hp2 HG02109.hp1 HG02622.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0034 others(6): Show |
9 | 294 | 0.0306 | -15 | c.529 others(32): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PPARG_chr3_12284070_12439344 | 12417888 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00733.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0049 a0001c0001t0001g0050 others(30): Show |
33 | 294 | 0.1122 | -15 | c.118 others(32): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PPAT_chr4_56388362_56440615 | 56402835 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0219 | 1 | 384 | 0.0026 | -15 | c.661 others(30): Show |
PPAT | ENSG00000128059.8 | transcript | ENST00000264220.6 | protein_coding | 5/10 | chr4 | TogoVar | |||||||
PPAT_chr4_56388362_56440615 | 56410899 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0049 | 1 | 384 | 0.0026 | -15 | c.129 others(32): Show |
PPAT | ENSG00000128059.8 | transcript | ENST00000264220.6 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
PPBP_chr4_73981439_73993190 | 73982164 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02004.hp2 HG02486.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0003g0003 |
7 | 368 | 0.0190 | -15 | c.*50 others(26): Show |
PPBP | ENSG00000163736.4 | transcript | ENST00000296028.4 | protein_coding | 4274 | chr4 | TogoVar | |||||||
PPCDC_chr15_75018590_75055726 | 75033629 | AGAAGACA others(8): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(174): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(86): Show |
177 | 398 | 0.4447 | -15 | c.135 others(32): Show |
PPCDC | ENSG00000138621.12 | transcript | ENST00000342932.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70282518 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG03041.hp2 HG03540.hp2 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0013a0001c0014t0002 | a0001c0001t0013g0071 a0001c0014t0002g0072 |
2 | 282 | 0.0071 | -15 | c.264 others(34): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70296713 | GGGGAGAG others(8): Show |
G | intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0069 | 1 | 282 | 0.0036 | -15 | c.264 others(34): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70385702 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02809.hp2 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0063 a0001c0004t0004g0064 |
2 | 282 | 0.0071 | -15 | c.*27 others(26): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 1307 | chr11 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81265291 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0135 | 1 | 168 | 0.0060 | -15 | c.355 others(34): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 30/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81335744 | AAACAACA others(8): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 168 | 0.0060 | -15 | c.254 others(34): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 21/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81415177 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG02723.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 a0001c0001t0001g0125 |
2 | 168 | 0.0119 | -15 | c.646 others(32): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 7/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81415197 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 168 | 0.0060 | -15 | c.646 others(32): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 7/32 | chr12 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81415205 | AAAAAAAT others(8): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0033 | 1 | 168 | 0.0060 | -15 | c.646 others(32): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 7/32 | chr12 | TogoVar |