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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLXNA4_chr7_132118340_132581470 | 132282610 | GAAAAAAA others(8): Show |
G | intron_variant | MODIFIER | HG01255.hp2 HG02258.hp1 HG02258.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0013a0001c0002t0003others(3): Show | a0001c0001t0003g0087 a0001c0001t0013g0086 a0001c0002t0003g0004 others(5): Show |
8 | 88 | 0.0909 | -15 | c.150 others(36): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 4/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132489792 | TCCTCACG others(8): Show |
T | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0009 | 1 | 88 | 0.0114 | -15 | c.118 others(32): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 2/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132562173 | TTTCTCCT others(8): Show |
T | intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0005 | a0001c0005t0008 | a0001c0005t0008g0055 | 1 | 88 | 0.0114 | -15 | c.-87 others(34): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 1/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132563063 | CCTCCTCC others(8): Show |
C | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 88 | 0.0114 | -15 | c.-87 others(34): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 1/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132563504 | CCTCCTCC others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00621.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(17): Show | a0001c0001t0001g0045 a0001c0001t0001g0048 a0001c0001t0001g0052 others(24): Show |
27 | 88 | 0.3068 | -15 | c.-87 others(34): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 1/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132563682 | CCTCCTCC others(8): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02647.hp1 |
a0001a0002 | a0001c0019a0002c0016 | a0001c0019t0006a0002c0016t0006 | a0001c0019t0006g0075 a0002c0016t0006g0074 |
2 | 88 | 0.0227 | -15 | c.-87 others(34): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 1/31 | chr7 | TogoVar | |||||||
PLXNA4_chr7_132118340_132581470 | 132564021 | TCTCCTCC others(8): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG03239.hp1 HG03942.hp2 |
a0001 | a0001c0002a0001c0008a0001c0009 | a0001c0002t0004a0001c0008t0002a0001c0009t0001 | a0001c0002t0004g0007 a0001c0008t0002g0008 a0001c0009t0001g0009 |
3 | 88 | 0.0341 | -15 | c.-87 others(34): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 1/31 | chr7 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50274581 | GAAGCCAC others(8): Show |
G | downstream_gene_variant | MODIFIER | HG02896.hp1 | a0028 | a0028c0068 | a0028c0068t0003 | a0028c0068t0003g0239 | 1 | 302 | 0.0033 | -15 | c.*11 others(26): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 397 | chr22 | TogoVar | |||||||
PLXNB3_chrX_153759249_153784341 | 153759925 | CAACAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02257.hp2 others(27): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0010a0002c0002others(6): Show | a0001c0001t0001a0001c0010t0001a0002c0002t0001others(7): Show | a0001c0001t0001g0049 a0001c0001t0001g0079 a0001c0010t0001g0009 others(15): Show |
30 | 308 | 0.0974 | -15 | c.-44 others(26): Show |
PLXNB3 | ENSG00000198753.12 | transcript | ENST00000361971.10 | protein_coding | 4323 | chrX | TogoVar | |||||||
PLXNC1_chr12_94143577_94312675 | 94144363 | CATGCTAT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00738.hp2 HG01255.hp1 HG01346.hp2 others(14): Show |
a0001a0004 | a0001c0002a0001c0003a0001c0004others(5): Show | a0001c0002t0001a0001c0002t0009a0001c0003t0001others(8): Show | a0001c0002t0001g0084 a0001c0002t0001g0232 a0001c0002t0001g0245 others(14): Show |
17 | 298 | 0.0571 | -15 | c.-46 others(26): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 4213 | chr12 | TogoVar | |||||||
PLXNC1_chr12_94143577_94312675 | 94166524 | GTATTATT others(8): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG02647.hp1 NA18954.hp2 others(1): Show |
a0001a0007 | a0001c0001a0001c0002a0007c0032 | a0001c0001t0006a0001c0002t0001a0001c0002t0012others(1): Show | a0001c0001t0006g0140 a0001c0002t0001g0215 a0001c0002t0012g0216 others(1): Show |
4 | 298 | 0.0134 | -15 | c.106 others(34): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PLXNC1_chr12_94143577_94312675 | 94275854 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0056 | 1 | 298 | 0.0034 | -15 | c.359 others(34): Show |
PLXNC1 | ENSG00000136040.9 | transcript | ENST00000258526.9 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PMF1_chr1_156208007_156245042 | 156238312 | CACATCTA others(8): Show |
C | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 364 | 0.0028 | -15 | c.565 others(32): Show |
PMF1 | ENSG00000160783.19 | transcript | ENST00000368277.3 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
PMM2_chr16_8792839_8854325 | 8813857 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 2 | 408 | 0.0049 | -15 | c.639 others(30): Show |
PMM2 | ENSG00000140650.13 | transcript | ENST00000268261.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PMS1_chr2_189779450_189882629 | 189860800 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG03540.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0021 a0001c0001t0002g0039 a0001c0001t0002g0040 |
3 | 234 | 0.0128 | -15 | c.185 others(34): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PMS1_chr2_189779450_189882629 | 189864688 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01123.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0124 a0001c0001t0001g0149 a0001c0001t0002g0051 |
3 | 234 | 0.0128 | -15 | c.234 others(32): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | chr2 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 5980320 | ACAGGGGC others(8): Show |
A | intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0262 | 1 | 408 | 0.0025 | -15 | c.217 others(34): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 12/14 | chr7 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6013255 | ATTTTTTT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG01978.hp2 | a0020 | a0020c0042 | a0020c0042t0002 | a0020c0042t0002g0279 | 1 | 408 | 0.0025 | -15 | c.-42 others(26): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 4207 | chr7 | TogoVar | |||||||
PMVK_chr1_154919740_154941719 | 154927448 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 294 | 0.0034 | -15 | c.313 others(30): Show |
PMVK | ENSG00000163344.6 | transcript | ENST00000368467.4 | protein_coding | 3/4 | chr1 | TogoVar | |||||||
PNISR_chr6_99393050_99430308 | 99419176 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG03710.hp1 NA18939.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0019 a0001c0001t0002g0176 a0001c0001t0002g0183 others(3): Show |
8 | 406 | 0.0197 | -15 | c.-11 others(34): Show |
PNISR | ENSG00000132424.17 | transcript | ENST00000369239.10 | protein_coding | 1/11 | chr6 | TogoVar | |||||||
PNLIPRP1_chr10_116585959_116614175 | 116599256 | GAAAATAA others(8): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(114): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0003c0004t0001others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0018 others(57): Show |
117 | 420 | 0.2786 | -15 | c.815 others(30): Show |
PNLIPRP1 | ENSG00000187021.15 | transcript | ENST00000358834.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PNLIPRP1_chr10_116585959_116614175 | 116606882 | TGGATATA others(8): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0229 | 1 | 420 | 0.0024 | -15 | c.134 others(34): Show |
PNLIPRP1 | ENSG00000187021.15 | transcript | ENST00000358834.9 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PNLIPRP3_chr10_116422847_116482957 | 116482349 | TCCCAATT others(8): Show |
T | downstream_gene_variant | MODIFIER | HG02572.hp1 HG02809.hp2 HG02886.hp2 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0003a0001c0014t0002 | a0001c0001t0003g0158 a0001c0001t0003g0169 a0001c0014t0002g0216 |
3 | 288 | 0.0104 | -15 | c.*51 others(26): Show |
PNLIPRP3 | ENSG00000203837.5 | transcript | ENST00000369230.4 | protein_coding | 4393 | chr10 | TogoVar | |||||||
PNMA5_chrX_152983824_152999116 | 152989539 | TCCCCTCT others(8): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0027 | 1 | 286 | 0.0035 | -15 | c.*69 others(24): Show |
PNMA5 | ENSG00000198883.12 | transcript | ENST00000535214.6 | protein_coding | 4/4 | 698 | chrX | TogoVar | ||||||
PNMA8B_chr19_46486191_46500867 | 46498944 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG01070.hp1 others(21): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0006a0003c0003others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0011others(5): Show | a0001c0001t0003g0000 a0001c0001t0004g0000 a0001c0001t0011g0000 others(5): Show |
24 | 426 | 0.0563 | -15 | c.-34 others(26): Show |
PNMA8B | ENSG00000204851.7 | transcript | ENST00000599531.2 | protein_coding | 3078 | chr19 | TogoVar | |||||||
PNOC_chr8_28312268_28348351 | 28320084 | CTTTCTTT others(8): Show |
C | intron_variant | MODIFIER | HG02486.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 a0001c0001t0001g0275 |
2 | 424 | 0.0047 | -15 | c.-24 others(32): Show |
PNOC | ENSG00000168081.9 | transcript | ENST00000301908.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PNOC_chr8_28312268_28348351 | 28320088 | CTTTCTTT others(8): Show |
C | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 424 | 0.0024 | -15 | c.-24 others(32): Show |
PNOC | ENSG00000168081.9 | transcript | ENST00000301908.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PNPLA6_chr19_7530717_7566764 | 7563453 | CTATTATT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01891.hp1 HG01934.hp1 others(20): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(9): Show | a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0091 others(20): Show |
23 | 416 | 0.0553 | -15 | c.*18 others(26): Show |
PNPLA6 | ENSG00000032444.17 | transcript | ENST00000600737.6 | protein_coding | 1690 | chr19 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108492537 | GCTTTTAG others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(77): Show |
a0001a0010 | a0001c0001a0001c0002a0010c0008 | a0001c0001t0001a0001c0001t0022a0001c0001t0024others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(74): Show |
80 | 390 | 0.2051 | -15 | c.162 others(34): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 7/10 | chr7 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108505331 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02074.hp2 NA19067.hp2 |
a0001a0010 | a0001c0001a0010c0008 | a0001c0001t0001a0010c0008t0001 | a0001c0001t0001g0329 a0010c0008t0001g0319 |
2 | 390 | 0.0051 | -15 | c.120 others(34): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108505333 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02135.hp2 HG03688.hp2 NA18940.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0323 a0001c0001t0001g0324 others(3): Show |
7 | 390 | 0.0180 | -15 | c.120 others(34): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108505335 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG02109.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012 | a0001c0001t0001g0338 a0001c0001t0001g0339 a0001c0001t0001g0347 others(10): Show |
16 | 390 | 0.0410 | -15 | c.120 others(34): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108505337 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG00323.hp2 NA18949.hp2 NA18968.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0019 | a0001c0001t0003g0108 a0001c0001t0003g0113 a0001c0001t0003g0120 others(4): Show |
7 | 390 | 0.0180 | -15 | c.120 others(34): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108505338 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp2 NA18965.hp2 |
a0001a0008 | a0001c0001a0008c0016 | a0001c0001t0001a0008c0016t0003 | a0001c0001t0001g0351 a0008c0016t0003g0126 |
2 | 390 | 0.0051 | -15 | c.120 others(34): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
PNPLA8_chr7_108465417_108531135 | 108505348 | ATATATTT others(8): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 a0001c0001t0002g0077 |
2 | 390 | 0.0051 | -15 | c.120 others(34): Show |
PNPLA8 | ENSG00000135241.17 | transcript | ENST00000257694.13 | protein_coding | 4/10 | chr7 | TogoVar | |||||||
PNPO_chr17_47936571_47954308 | 47937266 | AAAAAGGT others(8): Show |
A | upstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 380 | 0.0026 | -15 | c.-44 others(26): Show |
PNPO | ENSG00000108439.11 | transcript | ENST00000642017.2 | protein_coding | 4304 | chr17 | TogoVar | |||||||
PNPT1_chr2_55629061_55698844 | 55657856 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG01952.hp2 HG02293.hp2 HG02717.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0002c0002t0002 | a0001c0001t0001g0041 a0001c0001t0008g0195 a0002c0002t0002g0258 others(1): Show |
4 | 390 | 0.0103 | -15 | c.128 others(34): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 15/27 | chr2 | TogoVar | |||||||
PNPT1_chr2_55629061_55698844 | 55694980 | CAAAAAAA others(8): Show |
C | upstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 390 | 0.0026 | -15 | c.-11 others(26): Show |
PNPT1 | ENSG00000138035.15 | transcript | ENST00000447944.7 | protein_coding | 1137 | chr2 | TogoVar | |||||||
POC5_chr5_75669124_75722437 | 75712789 | TTTTCCCT others(8): Show |
T | intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0108 | 1 | 380 | 0.0026 | -15 | c.84+ others(26): Show |
POC5 | ENSG00000152359.15 | transcript | ENST00000428202.7 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
POGLUT1_chr3_119463963_119499708 | 119495225 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01943.hp1 others(6): Show |
a0001a0010 | a0001c0001a0001c0002a0010c0006 | a0001c0001t0003a0001c0002t0002a0010c0006t0002 | a0001c0001t0003g0017 a0001c0002t0002g0001 a0001c0002t0002g0053 others(2): Show |
9 | 422 | 0.0213 | -15 | c.*27 others(26): Show |
POGLUT1 | ENSG00000163389.12 | transcript | ENST00000295588.9 | protein_coding | 518 | chr3 | TogoVar | |||||||
POGLUT3_chr11_108467116_108503384 | 108498956 | TTTATTAT others(8): Show |
T | upstream_gene_variant | MODIFIER | NA18985.hp2 NA18986.hp1 NA19068.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0032 a0001c0001t0002g0001 a0001c0001t0002g0027 |
5 | 344 | 0.0145 | -15 | c.-60 others(24): Show |
POGLUT3 | ENSG00000178202.14 | transcript | ENST00000323468.10 | protein_coding | 573 | chr11 | TogoVar | |||||||
POGZ_chr1_151397724_151464494 | 151430904 | CTTTATTT others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01123.hp2 others(20): Show |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0223 a0001c0001t0001g0249 a0001c0001t0003g0126 others(20): Show |
23 | 320 | 0.0719 | -15 | c.284 others(28): Show |
POGZ | ENSG00000143442.24 | transcript | ENST00000271715.7 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
POLA1_chrX_24688918_25001986 | 24753317 | CTATTTTA others(8): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00544.hp1 HG00558.hp1 others(55): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0004 | a0001c0001t0001a0001c0001t0007a0001c0008t0001others(1): Show | a0001c0001t0001g0022 a0001c0001t0001g0041 a0001c0001t0001g0042 others(55): Show |
58 | 197 | 0.2944 | -15 | c.296 others(34): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLA1_chrX_24688918_25001986 | 24793277 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 197 | 0.0051 | -15 | c.296 others(36): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLA1_chrX_24688918_25001986 | 24803930 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0013 | 1 | 197 | 0.0051 | -15 | c.296 others(34): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLA1_chrX_24688918_25001986 | 24806053 | GTTTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG02293.hp2 HG02897.hp2 HG02922.hp1 others(4): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0008t0001 | a0001c0001t0001g0024 a0001c0001t0001g0095 a0001c0001t0001g0169 others(4): Show |
7 | 197 | 0.0355 | -15 | c.296 others(34): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLB_chr8_42333494_42376808 | 42359903 | AAAATAGT others(8): Show |
A | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 314 | 0.0032 | -15 | c.551 others(32): Show |
POLB | ENSG00000070501.12 | transcript | ENST00000265421.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
POLD1_chr19_50379347_50423014 | 50400133 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01243.hp1 HG01891.hp1 others(11): Show |
a0002a0003 | a0002c0015a0003c0006a0003c0012others(1): Show | a0002c0015t0001a0003c0006t0001a0003c0012t0001others(1): Show | a0002c0015t0001g0032 a0002c0015t0001g0033 a0003c0006t0001g0020 others(11): Show |
14 | 336 | 0.0417 | -15 | c.316 others(30): Show |
POLD1 | ENSG00000062822.16 | transcript | ENST00000440232.7 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
POLD3_chr11_74587582_74648076 | 74588262 | ATCAAAAG others(8): Show |
A | upstream_gene_variant | MODIFIER | NA18950.hp1 NA18954.hp2 NA19007.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0256 a0001c0002t0002g0257 a0001c0002t0002g0258 |
3 | 400 | 0.0075 | -15 | c.-43 others(26): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 4319 | chr11 | TogoVar | |||||||
POLD3_chr11_74587582_74648076 | 74609362 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00621.hp1 NA18991.hp2 NA19002.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 a0001c0001t0001g0184 a0001c0001t0001g0185 others(3): Show |
6 | 400 | 0.0150 | -15 | c.220 others(32): Show |
POLD3 | ENSG00000077514.9 | transcript | ENST00000263681.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |