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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCLO_chr7_82749012_83167884 | 83166231 | TAATATTT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG02486.hp1 | a0019 | a0019c0079 | a0019c0079t0002 | a0019c0079t0002g0114 | 1 | 188 | 0.0053 | -10 | c.-36 others(21): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3348 | chr7 | TogoVar | ||||||
PCM1_chr8_17917988_18034948 | 18001995 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG02004.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004a0002c0002t0005 | a0001c0001t0001g0059a0001c0001t0001g0067a0001c0001t0001g0092others(2): Show | 5 | 368 | 0.0136 | -10 | c.482 others(29): Show |
PCM1 | ENSG00000078674.20 | transcript | ENST00000325083.13 | protein_coding | 29/38 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PCM1_chr8_17917988_18034948 | 18018848 | GTGTGTAT others(3): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02717.hp1 HG02886.hp2 others(4): Show |
a0001a0019 | a0001c0001a0019c0025 | a0001c0001t0017a0001c0001t0018a0001c0001t0035others(1): Show | a0001c0001t0017g0105a0001c0001t0017g0108a0001c0001t0018g0106others(4): Show | 7 | 368 | 0.0190 | -10 | c.584 others(29): Show |
PCM1 | ENSG00000078674.20 | transcript | ENST00000325083.13 | protein_coding | 36/38 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PCM1_chr8_17917988_18034948 | 18018850 | GTGTATAT others(3): Show |
G | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0093 | 1 | 368 | 0.0027 | -10 | c.584 others(29): Show |
PCM1 | ENSG00000078674.20 | transcript | ENST00000325083.13 | protein_coding | 36/38 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PCM1_chr8_17917988_18034948 | 18018875 | TATATACA others(3): Show |
T | intron_variant | MODIFIER | HG02258.hp1 HG02572.hp2 NA18906.hp2 |
a0005 | a0005c0005 | a0005c0005t0008a0005c0005t0044 | a0005c0005t0008g0332a0005c0005t0008g0333a0005c0005t0044g0335 | 3 | 368 | 0.0082 | -10 | c.584 others(29): Show |
PCM1 | ENSG00000078674.20 | transcript | ENST00000325083.13 | protein_coding | 36/38 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PCM1_chr8_17917988_18034948 | 18026163 | CTGAAACA others(3): Show |
C | intron_variant | MODIFIER | HG02129.hp1 HG04228.hp1 NA18970.hp2 |
a0003a0010 | a0003c0003a0010c0014 | a0003c0003t0002a0003c0003t0009a0010c0014t0023 | a0003c0003t0002g0231a0003c0003t0009g0226a0010c0014t0023g0355 | 3 | 368 | 0.0082 | -10 | c.604 others(27): Show |
PCM1 | ENSG00000078674.20 | transcript | ENST00000325083.13 | protein_coding | 38/38 | chr8 | TogoVar | ||||||
PCMT1_chr6_149744741_149816419 | 149748808 | CAAAAAAA others(3): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(155): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0018others(155): Show | 158 | 334 | 0.4731 | -10 | c.-10 others(21): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 932 | chr6 | TogoVar | ||||||
PCMT1_chr6_149744741_149816419 | 149751476 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG02056.hp2 NA20300.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196a0001c0001t0001g0197a0001c0001t0001g0198others(1): Show | 4 | 334 | 0.0120 | -10 | c.55+ others(25): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PCMT1_chr6_149744741_149816419 | 149756512 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01361.hp1 HG02896.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0023a0002c0002t0002g0024a0002c0002t0002g0025others(1): Show | 4 | 334 | 0.0120 | -10 | c.55+ others(25): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PCMT1_chr6_149744741_149816419 | 149761026 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02055.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0017a0001c0001t0001g0155a0001c0001t0001g0207others(19): Show | 22 | 334 | 0.0659 | -10 | c.56- others(27): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PCMT1_chr6_149744741_149816419 | 149769308 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0102 | 1 | 334 | 0.0030 | -10 | c.56- others(25): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PCMT1_chr6_149744741_149816419 | 149769770 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 334 | 0.0030 | -10 | c.56- others(25): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PCMT1_chr6_149744741_149816419 | 149773350 | AGTTTTGT others(3): Show |
A | intron_variant | MODIFIER | HG02273.hp1 HG02615.hp2 HG02630.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0015a0001c0001t0001g0016a0002c0002t0002g0047 | 3 | 334 | 0.0090 | -10 | c.192 others(25): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PCMTD1_chr8_51812583_51904036 | 51840311 | GAAGCCAT others(3): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02572.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0217a0001c0001t0006g0218a0001c0001t0006g0220 | 3 | 336 | 0.0089 | -10 | c.410 others(27): Show |
PCMTD1 | ENSG00000168300.14 | transcript | ENST00000522514.6 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
PCMTD2_chr20_64250748_64281226 | 64277329 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0009 | 1 | 332 | 0.0030 | -10 | c.*37 others(21): Show |
PCMTD2 | ENSG00000203880.13 | transcript | ENST00000308824.11 | protein_coding | 1104 | chr20 | TogoVar | ||||||
PCMTD2_chr20_64250748_64281226 | 64281080 | GCATGTTT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0041 | 1 | 332 | 0.0030 | -10 | c.*74 others(21): Show |
PCMTD2 | ENSG00000203880.13 | transcript | ENST00000308824.11 | protein_coding | 4855 | chr20 | TogoVar | ||||||
PCNT_chr21_46319156_46450769 | 46353743 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG01361.hp1 HG01981.hp2 others(8): Show |
a0008a0019a0049others(1): Show | a0008c0007a0019c0028a0049c0046others(1): Show | a0008c0007t0001a0019c0028t0001a0049c0046t0001others(1): Show | a0008c0007t0001g0003a0008c0007t0001g0004a0008c0007t0001g0005others(8): Show | 11 | 332 | 0.0331 | -10 | c.168 others(27): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46360213 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317 | 1 | 332 | 0.0030 | -10 | c.215 others(29): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 13/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46380145 | ATTTTTTT others(3): Show |
A | intron_variant | MODIFIER | HG02004.hp1 HG02074.hp1 HG02083.hp2 others(8): Show |
a0001a0002a0008others(2): Show | a0001c0001a0002c0002a0008c0007others(2): Show | a0001c0001t0001a0002c0002t0001a0008c0007t0001others(2): Show | a0001c0001t0001g0123a0001c0001t0001g0203a0001c0001t0001g0204others(8): Show | 11 | 332 | 0.0331 | -10 | c.316 others(29): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46381196 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp2 HG00735.hp2 others(25): Show |
a0001a0002a0006others(5): Show | a0001c0001a0001c0030a0002c0002others(6): Show | a0001c0001t0001a0001c0030t0001a0002c0002t0001others(6): Show | a0001c0001t0001g0139a0001c0001t0001g0201a0001c0001t0001g0202others(25): Show | 28 | 332 | 0.0843 | -10 | c.316 others(27): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 15/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46426069 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03540.hp1 NA19030.hp1 |
a0019 | a0019c0028 | a0019c0028t0001 | a0019c0028t0001g0327a0019c0028t0001g0328 | 2 | 332 | 0.0060 | -10 | c.732 others(27): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 33/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46436469 | GGCCCCCC others(3): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG02622.hp2 HG02630.hp1 others(8): Show |
a0007a0029 | a0007c0005a0029c0039 | a0007c0005t0001a0029c0039t0001 | a0007c0005t0001g0024a0007c0005t0001g0025a0007c0005t0001g0026others(8): Show | 11 | 332 | 0.0331 | -10 | c.899 others(27): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 39/46 | chr21 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70910180 | CTCCTCCT others(3): Show |
C | intron_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0006 | a0001c0006t0029 | a0001c0006t0029g0122 | 1 | 352 | 0.0028 | -10 | c.153 others(27): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70919709 | TCCCCCCC others(3): Show |
T | intron_variant | MODIFIER | HG02300.hp2 NA18948.hp1 NA19057.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0033a0001c0001t0045a0001c0002t0014 | a0001c0001t0033g0003a0001c0001t0045g0008a0001c0002t0014g0076 | 3 | 352 | 0.0085 | -10 | c.153 others(29): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70948922 | TATATATG others(3): Show |
T | intron_variant | MODIFIER | HG02055.hp2 | a0008 | a0008c0017 | a0008c0017t0034 | a0008c0017t0034g0033 | 1 | 352 | 0.0028 | -10 | c.362 others(27): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70948938 | TGTACATA others(3): Show |
T | intron_variant | MODIFIER | HG02602.hp2 HG02735.hp2 |
a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0127a0001c0001t0028g0128 | 2 | 352 | 0.0057 | -10 | c.362 others(27): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 2/35 | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70971115 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG00544.hp1 NA18945.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0012 | a0001c0002t0003g0341a0001c0002t0012g0342 | 2 | 352 | 0.0057 | -10 | c.604 others(27): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 5/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70994421 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01952.hp2 HG02293.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0038 | a0001c0001t0002g0010a0001c0001t0002g0011a0001c0001t0002g0026others(2): Show | 5 | 352 | 0.0142 | -10 | c.244 others(29): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 7/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71006103 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(16): Show | a0001c0001t0001g0169a0001c0001t0001g0192a0001c0001t0004g0175others(28): Show | 31 | 352 | 0.0881 | -10 | c.263 others(29): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 8/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71012818 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(96): Show |
a0001a0011a0016 | a0001c0002a0001c0028a0001c0032others(2): Show | a0001c0002t0003a0001c0002t0006a0001c0002t0011others(22): Show | a0001c0002t0003g0249a0001c0002t0003g0254a0001c0002t0003g0258others(96): Show | 99 | 352 | 0.2813 | -10 | c.277 others(27): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 10/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71041780 | CTACTATA others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01243.hp2 HG02602.hp2 others(6): Show |
a0001a0013a0017 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0028a0001c0001t0061a0001c0002t0014others(4): Show | a0001c0001t0028g0127a0001c0001t0028g0128a0001c0001t0061g0193others(6): Show | 9 | 352 | 0.0256 | -10 | c.386 others(29): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 19/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71051168 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00544.hp2 NA18943.hp2 NA18971.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0055a0001c0001t0056others(2): Show | a0001c0001t0027g0207a0001c0001t0055g0194a0001c0001t0056g0246others(2): Show | 5 | 352 | 0.0142 | -10 | c.444 others(27): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 23/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71093717 | TCTCCTTC others(3): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209 | 1 | 352 | 0.0028 | -10 | c.558 others(29): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 30/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71098509 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0046 | 1 | 352 | 0.0028 | -10 | c.559 others(29): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 30/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX2_chr1_232978435_233300725 | 232999452 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03225.hp2 HG03579.hp1 |
a0015a0023 | a0015c0023a0023c0033 | a0015c0023t0009a0023c0033t0009 | a0015c0023t0009g0030a0023c0033t0009g0021 | 2 | 146 | 0.0137 | -10 | c.532 others(25): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 30/33 | chr1 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233067365 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp1 HG01106.hp1 others(1): Show |
a0001a0006 | a0001c0001a0001c0004a0006c0014 | a0001c0001t0001a0001c0004t0001a0006c0014t0002 | a0001c0001t0001g0075a0001c0001t0001g0138a0001c0004t0001g0020others(1): Show | 4 | 146 | 0.0274 | -10 | c.407 others(31): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 23/33 | chr1 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233139178 | TCGACTGT others(3): Show |
T | intron_variant | MODIFIER | HG02818.hp1 HG02965.hp1 |
a0005a0011 | a0005c0036a0011c0027 | a0005c0036t0003a0011c0027t0001 | a0005c0036t0003g0033a0011c0027t0001g0084 | 2 | 146 | 0.0137 | -10 | c.365 others(27): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 20/33 | chr1 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233185084 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00673.hp1 HG00741.hp1 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0009a0001c0031others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0056a0001c0001t0001g0096a0001c0001t0001g0099others(15): Show | 18 | 146 | 0.1233 | -10 | c.306 others(29): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 15/33 | chr1 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233233424 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02630.hp2 HG03516.hp1 others(3): Show |
a0001a0018a0022 | a0001c0007a0001c0030a0018c0028others(1): Show | a0001c0007t0001a0001c0007t0003a0001c0030t0002others(2): Show | a0001c0007t0001g0019a0001c0007t0001g0054a0001c0007t0003g0114others(3): Show | 6 | 146 | 0.0411 | -10 | c.235 others(29): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 9/33 | chr1 | TogoVar | ||||||
PCNX2_chr1_232978435_233300725 | 233291608 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 146 | 0.0069 | -10 | c.153 others(27): Show |
PCNX2 | ENSG00000135749.20 | transcript | ENST00000258229.14 | protein_coding | 1/33 | chr1 | TogoVar | ||||||
PCNX3_chr11_65610776_65642439 | 65621915 | AAGTGGAC others(3): Show |
A | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 396 | 0.0025 | -10 | c.223 others(27): Show |
PCNX3 | ENSG00000197136.5 | transcript | ENST00000355703.4 | protein_coding | 10/34 | chr11 | TogoVar | ||||||
PCOLCE2_chr3_142812874_142894083 | 142857048 | CTCTATAG others(3): Show |
C | intron_variant | MODIFIER | HG03041.hp2 HG03209.hp2 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0175a0001c0001t0002g0149a0001c0001t0002g0255 | 3 | 342 | 0.0088 | -10 | c.193 others(27): Show |
PCOLCE2 | ENSG00000163710.9 | transcript | ENST00000295992.8 | protein_coding | 2/8 | chr3 | TogoVar | ||||||
PCOLCE2_chr3_142812874_142894083 | 142892234 | TTAATTGG others(3): Show |
T | upstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0140 | 1 | 342 | 0.0029 | -10 | c.-33 others(21): Show |
PCOLCE2 | ENSG00000163710.9 | transcript | ENST00000295992.8 | protein_coding | 3152 | chr3 | TogoVar | ||||||
PCOLCE_chr7_100597363_100613175 | 100609222 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01168.hp2 HG02451.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0024others(1): Show | 4 | 332 | 0.0121 | -10 | c.*11 others(21): Show |
PCOLCE | ENSG00000106333.13 | transcript | ENST00000223061.6 | protein_coding | 1048 | chr7 | TogoVar | ||||||
PCP4_chr21_39862438_39934392 | 39880454 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG01975.hp1 HG02559.hp2 HG02572.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0353a0001c0001t0001g0354a0001c0001t0002g0352others(1): Show | 4 | 428 | 0.0094 | -10 | c.9+1 others(25): Show |
PCP4 | ENSG00000183036.11 | transcript | ENST00000328619.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCSK1N_chrX_48826096_48840610 | 48834779 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01256.hp1 others(13): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0010 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(2): Show | a0001c0001t0001g0023a0001c0001t0005g0048a0001c0002t0001g0005others(3): Show | 16 | 314 | 0.0510 | -10 | c.114 others(25): Show |
PCSK1N | ENSG00000102109.9 | transcript | ENST00000218230.6 | protein_coding | 1/2 | chrX | TogoVar | ||||||
PCSK1N_chrX_48826096_48840610 | 48837507 | ATCCTCCC others(3): Show |
A | upstream_gene_variant | MODIFIER | NA19075.hp1 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0057 | 1 | 314 | 0.0032 | -10 | c.-19 others(21): Show |
PCSK1N | ENSG00000102109.9 | transcript | ENST00000218230.6 | protein_coding | 1898 | chrX | TogoVar | ||||||
PCSK1_chr5_96385333_96438248 | 96425014 | AAGAAAGA others(3): Show |
A | intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0074 | 1 | 392 | 0.0026 | -10 | c.396 others(25): Show |
PCSK1 | ENSG00000175426.11 | transcript | ENST00000311106.8 | protein_coding | 3/13 | chr5 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17226842 | CGGCCGGG others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 274 | 0.0037 | -10 | c.-46 others(19): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 197 | chr20 | TogoVar | ||||||
PCSK2_chr20_17222040_17489578 | 17239841 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0157 | 1 | 274 | 0.0037 | -10 | c.177 others(29): Show |
PCSK2 | ENSG00000125851.10 | transcript | ENST00000262545.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |