view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PITPNC1_chr17_67372281_67702256 | 67631657 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0083 | 1 | 218 | 0.0046 | 15 | c.367 others(30): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67661994 | C | CATAATAA others(8): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 NA19030.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0017a0001c0001t0061 | a0001c0001t0008g0168a0001c0001t0008g0214a0001c0001t0017g0060others(1): Show | 4 | 218 | 0.0184 | 15 | c.463 others(32): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67688338 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01496.hp2 NA19005.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0211a0001c0001t0010g0093 | 2 | 218 | 0.0092 | 15 | c.683 others(32): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNM2_chr12_122978480_123156090 | 123029995 | C | CGAGGTGG others(8): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 230 | 0.0044 | 15 | c.78+ others(30): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 3/25 | chr12 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6448282 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01258.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0013a0001c0001t0096a0001c0002t0003others(8): Show | a0001c0001t0013g0195a0001c0001t0096g0208a0001c0002t0003g0047others(10): Show | 13 | 218 | 0.0596 | 15 | c.*70 others(26): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 2980 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6455708 | G | GGGGAGGG others(8): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0091 | a0001c0001t0091g0028 | 1 | 218 | 0.0046 | 15 | c.262 others(30): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 19/19 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6491101 | G | GGAGGGGA others(8): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02622.hp1 HG02976.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011a0001c0001t0050others(3): Show | a0001c0001t0006g0035a0001c0001t0006g0128a0001c0001t0011g0184others(4): Show | 7 | 218 | 0.0321 | 15 | c.275 others(32): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4/19 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6557760 | A | ATTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0002 | a0002c0004 | a0002c0004t0024 | a0002c0004t0024g0197 | 1 | 218 | 0.0046 | 15 | c.-13 others(26): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 1206 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6560593 | T | TCTCCTCC others(8): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG03209.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0013a0001c0001t0022others(2): Show | a0001c0001t0011g0184a0001c0001t0013g0195a0001c0001t0022g0152others(4): Show | 7 | 218 | 0.0321 | 15 | c.-41 others(26): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4039 | chr17 | TogoVar | |||||||
PITRM1_chr10_3132728_3177782 | 3134988 | T | TTGTTCAT others(8): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02818.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0011a0001c0020 | a0001c0011t0001a0001c0020t0001 | a0001c0011t0001g0143a0001c0020t0001g0141a0001c0020t0001g0142others(1): Show | 4 | 446 | 0.0090 | 15 | c.*30 others(26): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 2739 | chr10 | TogoVar | |||||||
PITRM1_chr10_3132728_3177782 | 3171146 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0028 | a0001c0028t0002 | a0001c0028t0002g0303 | 1 | 446 | 0.0022 | 15 | c.57- others(28): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1/26 | chr10 | TogoVar | |||||||
PITRM1_chr10_3132728_3177782 | 3174583 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 446 | 0.0022 | 15 | c.-18 others(26): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1802 | chr10 | TogoVar | |||||||
PITX2_chr4_110612423_110628077 | 110613187 | A | AAAACCAA others(8): Show |
downstream_gene_variant | MODIFIER | HG02896.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 2 | 422 | 0.0047 | 15 | c.*49 others(26): Show |
PITX2 | ENSG00000164093.18 | transcript | ENST00000644743.1 | protein_coding | 4235 | chr4 | TogoVar | |||||||
PIWIL1_chr12_130332887_130377637 | 130372597 | C | CAAAAAAA others(8): Show |
3_prime_UTR_variant | MODIFIER | NA18982.hp1 NA19004.hp2 |
a0002 | a0002c0003 | a0002c0003t0037 | a0002c0003t0037g0015a0002c0003t0037g0309 | 2 | 425 | 0.0047 | 15 | c.*99 others(24): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 21/21 | 994 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PIWIL2_chr8_22270316_22362568 | 22349445 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0205 | 1 | 296 | 0.0034 | 15 | c.240 others(34): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 20/22 | chr8 | TogoVar | |||||||
PIWIL3_chr22_24714034_24779720 | 24740218 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18955.hp2 NA18999.hp2 NA19080.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0112a0002c0002t0002g0116a0002c0002t0002g0117 | 3 | 386 | 0.0078 | 15 | c.145 others(34): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 12/20 | chr22 | TogoVar | |||||||
PIWIL3_chr22_24714034_24779720 | 24744177 | T | TGAATTAA others(8): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01070.hp1 others(20): Show |
a0001a0003a0016 | a0001c0001a0001c0028a0003c0003others(2): Show | a0001c0001t0001a0001c0028t0001a0003c0003t0002others(3): Show | a0001c0001t0001g0331a0001c0001t0001g0332a0001c0001t0001g0337others(17): Show | 23 | 386 | 0.0596 | 15 | c.144 others(34): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 12/20 | chr22 | TogoVar | |||||||
PIWIL3_chr22_24714034_24779720 | 24760780 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0011 | a0011c0015 | a0011c0015t0001 | a0011c0015t0001g0281 | 1 | 386 | 0.0026 | 15 | c.103 others(30): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 2/20 | chr22 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109340621 | T | TCTCCCTC others(8): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 346 | 0.0029 | 15 | c.200 others(34): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 9/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109372905 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01978.hp2 HG04228.hp1 NA19080.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0002 | a0002c0002t0001g0160a0003c0003t0002g0083a0003c0003t0002g0099 | 3 | 346 | 0.0087 | 15 | c.128 others(34): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109372923 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 | 1 | 346 | 0.0029 | 15 | c.128 others(34): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47864576 | T | TTTCTTTC others(8): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0004 | a0004c0011 | a0004c0011t0002 | a0004c0011t0002g0064 | 1 | 306 | 0.0033 | 15 | c.414 others(32): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 26/56 | chr7 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47865568 | A | ATTATTTT others(8): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02109.hp2 HG02486.hp2 others(2): Show |
a0009a0015a0032 | a0009c0099a0015c0014a0015c0079others(1): Show | a0009c0099t0001a0015c0014t0001a0015c0079t0001others(1): Show | a0009c0099t0001g0164a0015c0014t0001g0146a0015c0014t0001g0147others(2): Show | 5 | 306 | 0.0163 | 15 | c.409 others(32): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 25/56 | chr7 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47880282 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG03834.hp1 |
a0004a0035 | a0004c0011a0035c0116 | a0004c0011t0002a0035c0116t0001 | a0004c0011t0002g0064a0035c0116t0001g0189 | 2 | 306 | 0.0065 | 15 | c.352 others(32): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 21/56 | chr7 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47880284 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00738.hp1 HG03516.hp2 |
a0008a0010 | a0008c0043a0010c0005 | a0008c0043t0002a0010c0005t0001 | a0008c0043t0002g0055a0010c0005t0001g0294 | 2 | 306 | 0.0065 | 15 | c.352 others(32): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 21/56 | chr7 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47899955 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(30): Show |
a0002a0003a0004others(11): Show | a0002c0003a0002c0024a0002c0028others(20): Show | a0002c0003t0001a0002c0024t0001a0002c0028t0001others(21): Show | a0002c0003t0001g0163a0002c0003t0001g0173a0002c0003t0001g0178others(30): Show | 33 | 306 | 0.1078 | 15 | c.206 others(34): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 13/56 | chr7 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47902033 | G | GGAAAAGA others(8): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02630.hp1 NA20129.hp2 |
a0001 | a0001c0038a0001c0075a0001c0139 | a0001c0038t0001a0001c0075t0001a0001c0139t0001 | a0001c0038t0001g0056a0001c0075t0001g0148a0001c0139t0001g0300 | 3 | 306 | 0.0098 | 15 | c.206 others(32): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 13/56 | chr7 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47910826 | T | TGTGTGTG others(8): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0009 | a0009c0046 | a0009c0046t0002 | a0009c0046t0002g0165 | 1 | 306 | 0.0033 | 15 | c.122 others(34): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 8/56 | chr7 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47949368 | C | CAAAAAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG01891.hp2 HG02886.hp2 HG03041.hp1 others(5): Show |
a0002a0009a0010others(4): Show | a0002c0048a0009c0046a0010c0005others(4): Show | a0002c0048t0001a0009c0046t0002a0010c0005t0002others(4): Show | a0002c0048t0001g0171a0009c0046t0002g0165a0009c0046t0002g0299others(5): Show | 8 | 306 | 0.0261 | 15 | c.-92 others(24): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 903 | chr7 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71940558 | G | GGCACGAT others(8): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0085 | 1 | 308 | 0.0033 | 15 | c.432 others(34): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 24/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71946889 | A | AGAGAGGG others(8): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0005 | a0005c0003 | a0005c0003t0001 | a0005c0003t0001g0169 | 1 | 308 | 0.0033 | 15 | c.371 others(32): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71976264 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(27): Show |
a0001a0002a0004others(7): Show | a0001c0001a0002c0002a0004c0009others(8): Show | a0001c0001t0001a0002c0002t0001a0004c0009t0001others(8): Show | a0001c0001t0001g0189a0001c0001t0001g0278a0002c0002t0001g0059others(27): Show | 30 | 308 | 0.0974 | 15 | c.175 others(32): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 11/29 | chr16 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100306855 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 306 | 0.0033 | 15 | c.350 others(32): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321663 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0280 | 1 | 306 | 0.0033 | 15 | c.349 others(32): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321754 | A | AGGAGGGA others(8): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0224 | 1 | 306 | 0.0033 | 15 | c.349 others(32): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321756 | A | AAAGAAGA others(8): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 306 | 0.0033 | 15 | c.349 others(32): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321911 | G | GGAAGGAA others(8): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 306 | 0.0033 | 15 | c.349 others(32): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321941 | A | AAGGAAGG others(8): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0061 | 1 | 306 | 0.0033 | 15 | c.349 others(32): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKHD1L1_chr8_109357461_109542207 | 109538047 | A | ATTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02486.hp1 HG02723.hp2 others(1): Show |
a0002a0006 | a0002c0002a0006c0006 | a0002c0002t0001a0006c0006t0009 | a0002c0002t0001g0087a0006c0006t0009g0027a0006c0006t0009g0030others(1): Show | 4 | 282 | 0.0142 | 15 | c.*79 others(26): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 841 | chr8 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51758014 | A | AGAGAGAG others(8): Show |
intron_variant | MODIFIER | HG02717.hp2 NA19003.hp1 |
a0001a0007 | a0001c0009a0007c0003 | a0001c0009t0001a0007c0003t0001 | a0001c0009t0001g0123a0007c0003t0001g0006 | 2 | 134 | 0.0149 | 15 | c.864 others(34): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 55/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51966885 | T | TGATTGGA others(8): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02451.hp1 HG02970.hp1 others(2): Show |
a0001a0024a0025others(2): Show | a0001c0001a0024c0068a0025c0072others(2): Show | a0001c0001t0001a0024c0068t0001a0025c0072t0001others(2): Show | a0001c0001t0001g0061a0024c0068t0001g0091a0025c0072t0001g0095others(2): Show | 5 | 134 | 0.0373 | 15 | c.575 others(34): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51976944 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02922.hp2 HG02976.hp1 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0077a0001c0010t0001g0078 | 2 | 134 | 0.0149 | 15 | c.575 others(36): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51989945 | A | AGGGAGGG others(8): Show |
intron_variant | MODIFIER | HG04184.hp1 HG04228.hp2 |
a0001a0002 | a0001c0032a0002c0005 | a0001c0032t0001a0002c0005t0004 | a0001c0032t0001g0075a0002c0005t0004g0076 | 2 | 134 | 0.0149 | 15 | c.575 others(36): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKIB_chr6_122605405_122731373 | 122662308 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 312 | 0.0032 | 15 | c.-75 others(34): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PKIB_chr6_122605405_122731373 | 122670498 | T | TTTGTTGT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp2 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0024a0001c0001t0001g0040a0001c0001t0001g0042others(67): Show | 70 | 312 | 0.2244 | 15 | c.-75 others(32): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PKN1_chr19_14428306_14476859 | 14439913 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00741.hp2 HG02293.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0004a0002c0001a0003c0003others(2): Show | a0001c0004t0001a0002c0001t0001a0003c0003t0001others(2): Show | a0001c0004t0001g0342a0002c0001t0001g0264a0002c0001t0001g0265others(6): Show | 9 | 376 | 0.0239 | 15 | c.22- others(30): Show |
PKN1 | ENSG00000123143.13 | transcript | ENST00000242783.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PKN2_chr1_88679273_88841255 | 88789662 | C | CATAATAA others(8): Show |
intron_variant | MODIFIER | HG02280.hp1 NA21309.hp1 |
a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0029a0001c0005t0004g0031 | 2 | 330 | 0.0061 | 15 | c.128 others(34): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PKN2_chr1_88679273_88841255 | 88827611 | C | CCCCTTCC others(8): Show |
intron_variant | MODIFIER | HG02809.hp2 NA18522.hp1 |
a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0026a0001c0004t0013g0027 | 2 | 330 | 0.0061 | 15 | c.242 others(32): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PKN2_chr1_88679273_88841255 | 88827637 | C | CCCTTCCC others(8): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02922.hp2 HG03516.hp2 |
a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0039a0001c0005t0012g0040a0001c0005t0012g0041 | 3 | 330 | 0.0091 | 15 | c.242 others(32): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PKN2_chr1_88679273_88841255 | 88827639 | C | CTTCCCTC others(8): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02055.hp2 others(7): Show |
a0001 | a0001c0005 | a0001c0005t0004a0001c0005t0008a0001c0005t0009others(1): Show | a0001c0005t0004g0032a0001c0005t0008g0045a0001c0005t0008g0047others(7): Show | 10 | 330 | 0.0303 | 15 | c.242 others(32): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |