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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCDHGB6_chr5_141403021_141517975 | 141410849 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01496.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0290 a0001c0001t0001g0291 a0001c0001t0001g0292 others(4): Show |
7 | 302 | 0.0232 | 17 | c.241 others(34): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB6_chr5_141403021_141517975 | 141454796 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00733.hp2 HG02257.hp1 |
a0002 | a0002c0002a0002c0003 | a0002c0002t0003a0002c0003t0001 | a0002c0002t0003g0218 a0002c0003t0001g0173 |
2 | 302 | 0.0066 | 17 | c.241 others(38): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB7_chr5_141412677_141517975 | 141454796 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0286 a0001c0001t0003g0041 |
2 | 306 | 0.0065 | 17 | c.241 others(38): Show |
PCDHGB7 | ENSG00000254122.3 | transcript | ENST00000398594.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCED1B_chr12_47074621_47241660 | 47089457 | A | AAATACAT others(10): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03130.hp2 HG03831.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0068 a0001c0001t0002g0308 a0001c0003t0001g0251 |
3 | 322 | 0.0093 | 17 | c.-60 others(36): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PCED1B_chr12_47074621_47241660 | 47131673 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0072 a0001c0001t0002g0252 |
2 | 322 | 0.0062 | 17 | c.-52 others(38): Show |
PCED1B | ENSG00000179715.13 | transcript | ENST00000546455.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 713269 | G | GTGTGGCC others(10): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0075 | 1 | 366 | 0.0027 | 17 | c.-19 others(36): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 713549 | A | AGGGCTGT others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(136): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0007 a0001c0001t0001g0051 a0001c0001t0001g0052 others(136): Show |
139 | 366 | 0.3798 | 17 | c.-19 others(36): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 736822 | T | TCCCCTGA others(10): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0189 | 1 | 366 | 0.0027 | 17 | c.207 others(32): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 749476 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0270 | 1 | 366 | 0.0027 | 17 | c.462 others(34): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PCGF6_chr10_103297796_103356140 | 103340198 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0011 | 1 | 372 | 0.0027 | 17 | c.782 others(34): Show |
PCGF6 | ENSG00000156374.16 | transcript | ENST00000369847.4 | protein_coding | 6/9 | chr10 | TogoVar | |||||||
PCLAF_chr15_64359304_64386441 | 64377488 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02129.hp2 NA19063.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0009 | a0001c0001t0001g0185 a0003c0003t0009g0184 |
2 | 298 | 0.0067 | 17 | c.128 others(32): Show |
PCLAF | ENSG00000166803.14 | transcript | ENST00000300035.9 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 82751447 | C | CAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0042 | a0042c0047 | a0042c0047t0008 | a0042c0047t0008g0073 | 1 | 188 | 0.0053 | 17 | c.*71 others(28): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 2564 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 82794450 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0033 | a0033c0114 | a0033c0114t0001 | a0033c0114t0001g0048 | 1 | 188 | 0.0053 | 17 | c.150 others(38): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 22/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 82794459 | C | CTGTTTTT others(10): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02280.hp2 HG02630.hp2 others(1): Show |
a0006a0010a0019others(1): Show | a0006c0028a0010c0009a0019c0068others(1): Show | a0006c0028t0025a0010c0009t0013a0019c0068t0005others(1): Show | a0006c0028t0025g0011 a0010c0009t0013g0126 a0019c0068t0005g0022 others(1): Show |
4 | 188 | 0.0213 | 17 | c.150 others(38): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 22/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83057348 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0050 | a0050c0118 | a0050c0118t0002 | a0050c0118t0002g0147 | 1 | 188 | 0.0053 | 17 | c.330 others(38): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83057348 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0021 | a0021c0015 | a0021c0015t0002 | a0021c0015t0002g0078 | 1 | 188 | 0.0053 | 17 | c.330 others(38): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83069799 | C | CACACACA others(10): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 188 | 0.0053 | 17 | c.330 others(38): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCM1_chr8_17917988_18034948 | 17959575 | C | CTCTAGAA others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(256): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0024a0002c0002others(43): Show | a0001c0001t0017a0001c0001t0018a0001c0001t0035others(98): Show | a0001c0001t0017g0105 a0001c0001t0017g0108 a0001c0001t0018g0106 others(256): Show |
259 | 368 | 0.7038 | 17 | c.204 others(34): Show |
PCM1 | ENSG00000078674.20 | transcript | ENST00000325083.13 | protein_coding | 13/38 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PCMT1_chr6_149744741_149816419 | 149762548 | G | GATATATA others(10): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0047 | 1 | 334 | 0.0030 | 17 | c.56- others(32): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PCMT1_chr6_149744741_149816419 | 149762550 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | NA18944.hp1 NA18952.hp1 NA18966.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0030 a0002c0002t0002g0095 a0002c0002t0002g0108 |
3 | 334 | 0.0090 | 17 | c.56- others(32): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PCMT1_chr6_149744741_149816419 | 149762655 | G | GATATATA others(10): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02683.hp2 NA18966.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0036 a0002c0002t0002g0037 a0002c0002t0002g0054 others(2): Show |
5 | 334 | 0.0150 | 17 | c.56- others(32): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PCMT1_chr6_149744741_149816419 | 149762711 | A | ATATATCT others(10): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0065 | 1 | 334 | 0.0030 | 17 | c.56- others(32): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PCMT1_chr6_149744741_149816419 | 149787271 | A | AGAGAGGG others(10): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(152): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0018 others(152): Show |
155 | 334 | 0.4641 | 17 | c.193 others(34): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PCNP_chr3_101569180_101599465 | 101595787 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG00558.hp1 HG00609.hp2 HG02040.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0045 others(12): Show |
23 | 424 | 0.0543 | 17 | c.*30 others(28): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 1323 | chr3 | TogoVar | |||||||
PCNT_chr21_46319156_46450769 | 46359480 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18985.hp1 NA19077.hp1 |
a0002a0067 | a0002c0035a0067c0071 | a0002c0035t0001a0067c0071t0001 | a0002c0035t0001g0305 a0067c0071t0001g0259 |
2 | 332 | 0.0060 | 17 | c.215 others(36): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 13/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCNT_chr21_46319156_46450769 | 46359491 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0038 | a0038c0096 | a0038c0096t0001 | a0038c0096t0001g0073 | 1 | 332 | 0.0030 | 17 | c.215 others(36): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 13/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCNT_chr21_46319156_46450769 | 46380145 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0304 | 1 | 332 | 0.0030 | 17 | c.316 others(36): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCNT_chr21_46319156_46450769 | 46407412 | G | GCTCCCTG others(10): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0079 | 1 | 332 | 0.0030 | 17 | c.511 others(36): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 27/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCNT_chr21_46319156_46450769 | 46422422 | C | CGCCTGTG others(10): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01433.hp1 HG01515.hp1 others(20): Show |
a0004a0006a0016others(2): Show | a0004c0004a0004c0022a0006c0008others(6): Show | a0004c0004t0003a0004c0022t0003a0006c0008t0001others(6): Show | a0004c0004t0003g0119 a0004c0022t0003g0091 a0004c0022t0003g0092 others(20): Show |
23 | 332 | 0.0693 | 17 | c.717 others(34): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 32/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCNT_chr21_46319156_46450769 | 46436470 | G | GCCCCCCC others(10): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0079 | 1 | 332 | 0.0030 | 17 | c.899 others(34): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 39/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 71003080 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02559.hp2 HG02630.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0013 | a0001c0001t0002g0030 a0001c0003t0013g0137 a0001c0003t0013g0140 others(1): Show |
4 | 352 | 0.0114 | 17 | c.263 others(36): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 8/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 71119428 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01255.hp2 others(11): Show |
a0001a0008a0017 | a0001c0001a0008c0019a0017c0026 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0182 a0001c0001t0001g0224 a0001c0001t0001g0228 others(11): Show |
14 | 352 | 0.0398 | 17 | c.*94 others(28): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 4047 | chr14 | TogoVar | |||||||
PCNX2_chr1_232978435_233300725 | 233067365 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0018 | a0018c0023 | a0018c0023t0009 | a0018c0023t0009g0030 | 1 | 146 | 0.0069 | 17 | c.407 others(38): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 23/33 | chr1 | TogoVar | |||||||
PCNX2_chr1_232978435_233300725 | 233169644 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0013 | a0013c0017 | a0013c0017t0002 | a0013c0017t0002g0038 | 1 | 146 | 0.0069 | 17 | c.327 others(36): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 17/33 | chr1 | TogoVar | |||||||
PCOLCE2_chr3_142812874_142894083 | 142893990 | A | ATTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 342 | 0.0029 | 17 | c.-50 others(28): Show |
PCOLCE2 | ENSG00000163710.9 | transcript | ENST00000295992.8 | protein_coding | 4908 | chr3 | TogoVar | |||||||
PCSK1_chr5_96385333_96438248 | 96412752 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01891.hp2 HG02572.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005a0001c0002t0008others(1): Show | a0001c0002t0002g0161 a0001c0002t0002g0169 a0001c0002t0005g0026 others(3): Show |
6 | 392 | 0.0153 | 17 | c.710 others(32): Show |
PCSK1 | ENSG00000175426.11 | transcript | ENST00000311106.8 | protein_coding | 6/13 | chr5 | TogoVar | |||||||
PCSK1_chr5_96385333_96438248 | 96412752 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03098.hp2 HG03486.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0003 | a0001c0004t0001g0232 a0001c0004t0001g0239 a0001c0004t0001g0240 others(1): Show |
4 | 392 | 0.0102 | 17 | c.710 others(32): Show |
PCSK1 | ENSG00000175426.11 | transcript | ENST00000311106.8 | protein_coding | 6/13 | chr5 | TogoVar | |||||||
PCSK2_chr20_17222040_17489578 | 17303552 | A | ATTTATTA others(10): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 274 | 0.0037 | 17 | c.282 others(36): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 2/11 | chr20 | TogoVar | |||||||
PCSK2_chr20_17222040_17489578 | 17433812 | T | TCTCTCTC others(10): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 274 | 0.0037 | 17 | c.710 others(34): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17450017 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0256 | 1 | 274 | 0.0037 | 17 | c.886 others(34): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17480184 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03225.hp1 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0036 | a0001c0001t0001g0126 a0001c0001t0036g0026 |
2 | 274 | 0.0073 | 17 | c.143 others(36): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PCSK4_chr19_1476428_1495350 | 1490893 | G | GCCCCCCC others(10): Show |
upstream_gene_variant | MODIFIER | HG02647.hp1 HG03195.hp1 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0038 a0001c0002t0004g0134 |
2 | 400 | 0.0050 | 17 | c.-54 others(26): Show |
PCSK4 | ENSG00000115257.15 | transcript | ENST00000300954.10 | protein_coding | 544 | chr19 | TogoVar | |||||||
PCSK5_chr9_75885673_76367975 | 76014058 | C | CATTCTAT others(10): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02280.hp1 others(7): Show |
a0002a0003a0004others(7): Show | a0002c0009a0003c0100a0004c0070others(7): Show | a0002c0009t0038a0003c0100t0017a0004c0070t0042others(7): Show | a0002c0009t0038g0070 a0003c0100t0017g0043 a0004c0070t0042g0050 others(7): Show |
10 | 166 | 0.0602 | 17 | c.412 others(34): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 3/37 | chr9 | TogoVar | |||||||
PCSK5_chr9_75885673_76367975 | 76325644 | C | CTTTCTTT others(10): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02630.hp2 HG02717.hp1 others(1): Show |
a0014a0036a0037 | a0014c0029a0014c0032a0036c0045others(1): Show | a0014c0029t0009a0014c0032t0009a0036c0045t0010others(1): Show | a0014c0029t0009g0119 a0014c0032t0009g0127 a0036c0045t0010g0122 others(1): Show |
4 | 166 | 0.0241 | 17 | c.433 others(36): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 32/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCSK5_chr9_75885673_76367975 | 76351698 | G | GAAGGAGA others(10): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00639.hp1 HG00639.hp2 others(115): Show |
a0001a0002a0003others(37): Show | a0001c0001a0001c0004a0001c0013others(74): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(108): Show | a0001c0001t0002g0101 a0001c0001t0002g0112 a0001c0001t0005g0025 others(115): Show |
118 | 166 | 0.7108 | 17 | c.506 others(34): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PCSK6_chr15_101298933_101494707 | 101316910 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0110 | 1 | 336 | 0.0030 | 17 | c.256 others(36): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 19/21 | chr15 | TogoVar | |||||||
PCSK6_chr15_101298933_101494707 | 101392593 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02071.hp1 HG02135.hp2 others(3): Show |
a0001a0009a0023 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0007a0001c0002t0001a0001c0003t0004others(3): Show | a0001c0001t0007g0162 a0001c0002t0001g0288 a0001c0003t0004g0127 others(3): Show |
6 | 336 | 0.0179 | 17 | c.120 others(34): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 8/21 | chr15 | TogoVar | |||||||
PCSK7_chr11_117199337_117237073 | 117215406 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0056 a0001c0001t0004g0268 |
2 | 460 | 0.0044 | 17 | c.153 others(36): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | |||||||
PCYOX1L_chr5_149353046_149374653 | 149357842 | C | CGGGGGGG others(10): Show |
upstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 372 | 0.0027 | 17 | c.-22 others(26): Show |
PCYOX1L | ENSG00000145882.11 | transcript | ENST00000274569.9 | protein_coding | 203 | chr5 | TogoVar | |||||||
PCYOX1_chr2_70253137_70286185 | 70255592 | C | CAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0199 a0001c0001t0012g0201 |
2 | 424 | 0.0047 | 17 | c.-25 others(28): Show |
PCYOX1 | ENSG00000116005.12 | transcript | ENST00000433351.7 | protein_coding | 2544 | chr2 | TogoVar |