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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PITPNC1_chr17_67372281_67702256 | 67575861 | TCCTTCTT others(6): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG03041.hp1 NA18998.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0006a0001c0003t0054 | a0001c0001t0004g0172 a0001c0001t0006g0176 a0001c0003t0054g0088 |
3 | 218 | 0.0138 | -13 | c.295 others(30): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 4/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67599021 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 218 | 0.0046 | -13 | c.366 others(32): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67599026 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0177 | 1 | 218 | 0.0046 | -13 | c.366 others(32): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67644425 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02257.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0013a0001c0001t0017others(5): Show | a0001c0001t0008g0168 a0001c0001t0008g0214 a0001c0001t0013g0197 others(7): Show |
10 | 218 | 0.0459 | -13 | c.462 others(32): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNM2_chr12_122978480_123156090 | 123079350 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01175.hp1 HG02602.hp2 HG02683.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0006 | a0001c0004t0001g0041 a0001c0004t0001g0042 a0001c0004t0001g0074 others(3): Show |
6 | 230 | 0.0261 | -13 | c.-96 others(32): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 2/25 | chr12 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6454013 | AACCTCAG others(6): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01516.hp1 | a0002 | a0002c0005 | a0002c0005t0056 | a0002c0005t0056g0118 | 1 | 218 | 0.0046 | -13 | c.*13 others(24): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 20/20 | 1312 | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6538298 | GTGCCCAT others(6): Show |
G | intron_variant | MODIFIER | HG03540.hp1 HG03540.hp2 NA19030.hp2 |
a0003a0004 | a0003c0008a0004c0013a0004c0026 | a0003c0008t0097a0004c0013t0026a0004c0026t0049 | a0003c0008t0097g0172 a0004c0013t0026g0075 a0004c0026t0049g0004 |
3 | 218 | 0.0138 | -13 | c.23- others(26): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 1/19 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6560615 | CTTCTCCT others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0091 | 1 | 218 | 0.0046 | -13 | c.-42 others(24): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4061 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6561362 | CTCCCCCT others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0032 | 1 | 218 | 0.0046 | -13 | c.-49 others(24): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4808 | chr17 | TogoVar | |||||||
PITRM1_chr10_3132728_3177782 | 3151365 | TAAAAAAG others(6): Show |
T | splice_region_variant others(1): Show |
LOW | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(101): Show |
a0001a0003a0018 | a0001c0001a0001c0048a0001c0049others(8): Show | a0001c0001t0001a0001c0048t0001a0001c0049t0001others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(73): Show |
104 | 446 | 0.2332 | -13 | c.162 others(27): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 14/26 | chr10 | TogoVar | |||||||
PITRM1_chr10_3132728_3177782 | 3171146 | TTAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG02258.hp1 NA18965.hp2 NA18974.hp2 others(1): Show |
a0001a0004a0017 | a0001c0011a0004c0006a0017c0043 | a0001c0011t0001a0004c0006t0001a0017c0043t0001 | a0001c0011t0001g0069 a0004c0006t0001g0327 a0004c0006t0001g0331 others(1): Show |
4 | 446 | 0.0090 | -13 | c.57- others(26): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1/26 | chr10 | TogoVar | |||||||
PITRM1_chr10_3132728_3177782 | 3171147 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0156 | 1 | 446 | 0.0022 | -13 | c.57- others(26): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1/26 | chr10 | TogoVar | |||||||
PIWIL1_chr12_130332887_130377637 | 130372597 | CAAAAAAA others(6): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00423.hp2 HG00673.hp1 HG01081.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0028a0001c0001t0051a0001c0002t0028others(5): Show | a0001c0001t0028g0129 a0001c0001t0028g0134 a0001c0001t0051g0284 others(12): Show |
18 | 425 | 0.0424 | -13 | c.*98 others(22): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 21/21 | 987 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PIWIL2_chr8_22270316_22362568 | 22294899 | GGAAAAAA others(6): Show |
G | intron_variant | MODIFIER | HG02630.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0134 a0001c0001t0008g0184 |
2 | 296 | 0.0068 | -13 | c.118 others(32): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 10/22 | chr8 | TogoVar | |||||||
PIWIL2_chr8_22270316_22362568 | 22294900 | GAAAAAAA others(6): Show |
G | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 296 | 0.0034 | -13 | c.118 others(32): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PIWIL2_chr8_22270316_22362568 | 22296020 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02886.hp1 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0143 a0003c0002t0001g0019 |
2 | 296 | 0.0068 | -13 | c.118 others(32): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PIWIL2_chr8_22270316_22362568 | 22320936 | GACTGTCT others(6): Show |
G | intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 296 | 0.0034 | -13 | c.240 others(32): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 20/22 | chr8 | TogoVar | |||||||
PJVK_chr2_178446378_178467102 | 178446992 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 408 | 0.0025 | -13 | c.-47 others(24): Show |
PJVK | ENSG00000204311.15 | transcript | ENST00000644580.2 | protein_coding | 4385 | chr2 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47943160 | AAAAATAT others(6): Show |
A | intron_variant | MODIFIER | NA19043.hp2 NA19065.hp2 |
a0008a0080 | a0008c0010a0080c0067 | a0008c0010t0001a0080c0067t0001 | a0008c0010t0001g0053 a0080c0067t0001g0112 |
2 | 306 | 0.0065 | -13 | c.160 others(28): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 2/56 | chr7 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47943162 | AAATATAT others(6): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG02109.hp2 others(3): Show |
a0001a0015a0030others(2): Show | a0001c0075a0015c0014a0030c0032others(2): Show | a0001c0075t0001a0015c0014t0001a0030c0032t0001others(2): Show | a0001c0075t0001g0148 a0015c0014t0001g0146 a0015c0014t0001g0147 others(3): Show |
6 | 306 | 0.0196 | -13 | c.160 others(28): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 2/56 | chr7 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71945402 | ATTTATTT others(6): Show |
A | intron_variant | MODIFIER | NA18994.hp2 | a0005 | a0005c0003 | a0005c0003t0001 | a0005c0003t0001g0230 | 1 | 308 | 0.0033 | -13 | c.371 others(32): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71964309 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG03239.hp1 NA18942.hp1 others(2): Show |
a0001a0003a0004 | a0001c0001a0003c0075a0004c0005 | a0001c0001t0001a0003c0075t0001a0004c0005t0002 | a0001c0001t0001g0147 a0001c0001t0001g0157 a0001c0001t0001g0219 others(2): Show |
5 | 308 | 0.0162 | -13 | c.246 others(30): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 15/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71982278 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0004 | a0004c0043 | a0004c0043t0001 | a0004c0043t0001g0137 | 1 | 308 | 0.0033 | -13 | c.967 others(26): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 6/29 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2103494 | TCTGGAAT others(6): Show |
T | frameshift_variant | HIGH | NA18960.hp2 | a0064 | a0064c0081 | a0064c0081t0001 | a0064c0081t0001g0035 | 1 | 216 | 0.0046 | -13 | c.855 others(22): Show |
p.Met others(6): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 23/46 | 8771/14140 | 8550/12912 | 2850/4303 | chr16 | TogoVar | |||
PKD2L1_chr10_100283149_100335228 | 100315001 | AGGAAGGA others(6): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG03239.hp1 |
a0001a0018 | a0001c0001a0018c0016 | a0001c0001t0001a0018c0016t0001 | a0001c0001t0001g0206 a0018c0016t0001g0008 |
2 | 306 | 0.0065 | -13 | c.349 others(32): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100319454 | ATGACAAA others(6): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01106.hp1 HG01167.hp1 |
a0001a0014 | a0001c0001a0014c0027 | a0001c0001t0001a0014c0027t0001 | a0001c0001t0001g0119 a0001c0001t0001g0142 a0014c0027t0001g0141 |
3 | 306 | 0.0098 | -13 | c.349 others(30): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100332942 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0270 | 1 | 306 | 0.0033 | -13 | c.-28 others(24): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2715 | chr10 | TogoVar | |||||||
PKD2L2_chr5_137884457_137947747 | 137885771 | CAAAAAAA others(6): Show |
C | upstream_gene_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0057 | 1 | 336 | 0.0030 | -13 | c.-37 others(24): Show |
PKD2L2 | ENSG00000078795.17 | transcript | ENST00000508883.6 | protein_coding | 3685 | chr5 | TogoVar | |||||||
PKD2L2_chr5_137884457_137947747 | 137914031 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp1 others(164): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0012a0004c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0012t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(146): Show |
167 | 336 | 0.4970 | -13 | c.132 others(32): Show |
PKD2L2 | ENSG00000078795.17 | transcript | ENST00000508883.6 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PKHD1L1_chr8_109357461_109542207 | 109372999 | TCAGGATG others(6): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
a0015a0041 | a0015c0013a0041c0033 | a0015c0013t0012a0041c0033t0007 | a0015c0013t0012g0136 a0015c0013t0012g0137 a0015c0013t0012g0138 others(1): Show |
4 | 282 | 0.0142 | -13 | c.163 others(30): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | TogoVar | |||||||
PKHD1L1_chr8_109357461_109542207 | 109378945 | GAGATGGA others(6): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01257.hp1 HG01934.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0190 a0001c0001t0010g0191 a0001c0001t0010g0192 others(3): Show |
6 | 282 | 0.0213 | -13 | c.164 others(30): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51617921 | TCTCTTTT others(6): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00741.hp1 HG02896.hp1 |
a0014a0029 | a0014c0071a0029c0057 | a0014c0071t0012a0029c0057t0013 | a0014c0071t0012g0093 a0029c0057t0013g0067 |
2 | 134 | 0.0149 | -13 | c.*11 others(24): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 67/67 | 1147 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51758013 | AAAGAGAG others(6): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp2 HG02809.hp2 others(1): Show |
a0002a0003a0006others(1): Show | a0002c0005a0003c0048a0006c0011others(1): Show | a0002c0005t0002a0003c0048t0001a0006c0011t0005others(1): Show | a0002c0005t0002g0018 a0003c0048t0001g0047 a0006c0011t0005g0063 others(1): Show |
4 | 134 | 0.0299 | -13 | c.864 others(32): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 55/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51777679 | GAAAAAAA others(6): Show |
G | intron_variant | MODIFIER | NA20300.hp1 | a0048 | a0048c0063 | a0048c0063t0005 | a0048c0063t0005g0066 | 1 | 134 | 0.0075 | -13 | c.844 others(32): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 53/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51807451 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02622.hp1 | a0024 | a0024c0023 | a0024c0023t0017 | a0024c0023t0017g0081 | 1 | 134 | 0.0075 | -13 | c.830 others(34): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 52/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51975963 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG01243.hp1 | a0009 | a0009c0087 | a0009c0087t0001 | a0009c0087t0001g0111 | 1 | 134 | 0.0075 | -13 | c.575 others(34): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 52059259 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG03453.hp1 NA20300.hp1 |
a0001a0048 | a0001c0061a0048c0063 | a0001c0061t0001a0048c0063t0005 | a0001c0061t0001g0064 a0048c0063t0005g0066 |
2 | 134 | 0.0149 | -13 | c.123 others(30): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 15/66 | chr6 | TogoVar | |||||||
PKIB_chr6_122605405_122731373 | 122607328 | CAAAACAA others(6): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0143 | 1 | 312 | 0.0032 | -13 | c.-33 others(24): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 3076 | chr6 | TogoVar | |||||||
PKIB_chr6_122605405_122731373 | 122662308 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02818.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0003g0306 |
3 | 312 | 0.0096 | -13 | c.-75 others(32): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PKIB_chr6_122605405_122731373 | 122665189 | TTAGTAAA others(6): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp1 HG02886.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0055 a0001c0001t0002g0060 a0001c0001t0002g0065 others(3): Show |
6 | 312 | 0.0192 | -13 | c.-75 others(30): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PKIB_chr6_122605405_122731373 | 122719756 | CACACACA others(6): Show |
C | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 312 | 0.0032 | -13 | c.169 others(30): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PKIG_chr20_44577579_44624037 | 44593399 | ACACACAC others(6): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 300 | 0.0033 | -13 | c.-24 others(30): Show |
PKIG | ENSG00000168734.14 | transcript | ENST00000372886.6 | protein_coding | 2/3 | chr20 | TogoVar | |||||||
PKLR_chr1_155284293_155306438 | 155299018 | CTTTCTTT others(6): Show |
C | intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0199 | 1 | 311 | 0.0032 | -13 | c.283 others(30): Show |
PKLR | ENSG00000143627.19 | transcript | ENST00000342741.6 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
PKLR_chr1_155284293_155306438 | 155299023 | TTTCTTTC others(6): Show |
T | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 311 | 0.0032 | -13 | c.283 others(30): Show |
PKLR | ENSG00000143627.19 | transcript | ENST00000342741.6 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
PKM_chr15_72194029_72236190 | 72208429 | AAAAACAA others(6): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02615.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0321 others(3): Show |
10 | 370 | 0.0270 | -13 | c.836 others(28): Show |
PKM | ENSG00000067225.21 | transcript | ENST00000335181.10 | protein_coding | 6/10 | chr15 | TogoVar | |||||||
PKN1_chr19_14428306_14476859 | 14430003 | GTTTTTTT others(6): Show |
G | upstream_gene_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0286 | 1 | 376 | 0.0027 | -13 | c.-35 others(24): Show |
PKN1 | ENSG00000123143.13 | transcript | ENST00000242783.11 | protein_coding | 3302 | chr19 | TogoVar | |||||||
PKN1_chr19_14428306_14476859 | 14447528 | GCACTGAC others(6): Show |
G | intron_variant | MODIFIER | NA18965.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0236 | 1 | 376 | 0.0027 | -13 | c.610 others(28): Show |
PKN1 | ENSG00000123143.13 | transcript | ENST00000242783.11 | protein_coding | 4/21 | chr19 | TogoVar | |||||||
PKN1_chr19_14428306_14476859 | 14457357 | CTTTTTCT others(6): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG02602.hp1 HG02809.hp2 others(2): Show |
a0001a0005a0006 | a0001c0017a0001c0025a0005c0036others(1): Show | a0001c0017t0001a0001c0025t0001a0005c0036t0001others(1): Show | a0001c0017t0001g0001 a0001c0017t0001g0360 a0001c0025t0001g0238 others(2): Show |
5 | 376 | 0.0133 | -13 | c.116 others(30): Show |
PKN1 | ENSG00000123143.13 | transcript | ENST00000242783.11 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PKN1_chr19_14428306_14476859 | 14471012 | GACACCCC others(6): Show |
G | intron_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0076 | 1 | 376 | 0.0027 | -13 | c.262 others(30): Show |
PKN1 | ENSG00000123143.13 | transcript | ENST00000242783.11 | protein_coding | 21/21 | chr19 | TogoVar | |||||||
PKN2_chr1_88679273_88841255 | 88704778 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02922.hp2 HG03516.hp2 |
a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0039 a0001c0005t0012g0040 a0001c0005t0012g0041 |
3 | 330 | 0.0091 | -13 | c.48+ others(30): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |