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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PISD_chr22_31613491_31667215 | 31640880 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01192.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 a0001c0001t0002g0079 |
2 | 10 | 0.2000 | 19 | c.321 others(36): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
PITPNA_chr17_1512718_1567792 | 1565519 | A | AATGACTA others(12): Show |
upstream_gene_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 366 | 0.0027 | 19 | c.-29 others(30): Show |
PITPNA | ENSG00000174238.16 | transcript | ENST00000313486.12 | protein_coding | 2728 | chr17 | TogoVar | |||||||
PITPNB_chr22_27846669_27924256 | 27885212 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 a0001c0001t0002g0316 |
2 | 20 | 0.1000 | 19 | c.456 others(36): Show |
PITPNB | ENSG00000180957.19 | transcript | ENST00000335272.10 | protein_coding | 7/11 | chr22 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67522659 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0065 | 1 | 49 | 0.0204 | 19 | c.49- others(36): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67599035 | T | TATATATA others(12): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01257.hp2 HG01261.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0014 | a0001c0001t0001g0117 a0001c0001t0009g0180 a0001c0001t0009g0194 others(1): Show |
4 | 195 | 0.0205 | 19 | c.366 others(38): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67629266 | G | GTGTGTGT others(12): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0083 | 1 | 216 | 0.0046 | 19 | c.367 others(36): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67631645 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 | 1 | 183 | 0.0055 | 19 | c.367 others(34): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67631647 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0056 | a0001c0001t0056g0109 | 1 | 150 | 0.0067 | 19 | c.367 others(34): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67647464 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0143 | 1 | 38 | 0.0263 | 19 | c.462 others(38): 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(12): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01891.hp1 HG02647.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0008a0001c0001t0019others(1): Show | a0001c0001t0007g0075 a0001c0001t0007g0126 a0001c0001t0008g0173 others(3): Show |
6 | 48 | 0.1250 | 19 | c.683 others(36): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6448282 | C | CAAAAAAA others(12): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0002 | a0001c0002t0056 | a0001c0002t0056g0217 | 1 | 27 | 0.0370 | 19 | c.*70 others(30): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 2980 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6557760 | A | ATTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 HG02809.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0014a0002c0004t0033 | a0001c0001t0014g0030 a0002c0004t0033g0216 |
2 | 59 | 0.0339 | 19 | c.-13 others(30): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 1206 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6561117 | C | CCTTCCCT others(12): Show |
upstream_gene_variant | MODIFIER | HG03490.hp2 NA20300.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0029 | a0001c0001t0001g0050 a0002c0005t0029g0072 |
2 | 213 | 0.0094 | 19 | c.-47 others(30): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4563 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6561410 | C | CTCCTCCT others(12): Show |
upstream_gene_variant | MODIFIER | HG03688.hp1 HG04199.hp2 |
a0001 | a0001c0003 | a0001c0003t0008a0001c0003t0059 | a0001c0003t0008g0138 a0001c0003t0059g0136 |
2 | 125 | 0.0160 | 19 | c.-50 others(30): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 4856 | chr17 | TogoVar | |||||||
PITRM1_chr10_3132728_3177782 | 3171160 | A | AAAAAAAC others(12): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0010 | a0010c0034 | a0010c0034t0001 | a0010c0034t0001g0146 | 1 | 444 | 0.0023 | 19 | c.57- others(32): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1/26 | chr10 | TogoVar | |||||||
PITRM1_chr10_3132728_3177782 | 3174583 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0252 | 1 | 7 | 0.1429 | 19 | c.-18 others(30): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1802 | chr10 | TogoVar | |||||||
PIWIL1_chr12_130332887_130377637 | 130366785 | C | CACTAGAA others(12): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01106.hp2 HG01109.hp2 others(11): Show |
a0001a0003a0006 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0040a0001c0001t0055a0001c0002t0014others(5): Show | a0001c0001t0040g0112 a0001c0001t0055g0086 a0001c0002t0014g0023 others(9): Show |
14 | 424 | 0.0330 | 19 | c.219 others(36): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIWIL3_chr22_24714034_24779720 | 24757079 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 61 | 0.0164 | 19 | c.356 others(34): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | |||||||
PIWIL3_chr22_24714034_24779720 | 24757098 | A | AAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 378 | 0.0026 | 19 | c.356 others(34): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | |||||||
PIWIL3_chr22_24714034_24779720 | 24760780 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02040.hp1 HG02523.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 a0001c0001t0001g0233 a0001c0001t0001g0237 others(3): Show |
6 | 151 | 0.0397 | 19 | c.103 others(34): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 2/20 | chr22 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109372905 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02723.hp1 NA20905.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0012 | a0002c0002t0001g0007 a0002c0002t0012g0030 |
2 | 27 | 0.0741 | 19 | c.128 others(38): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47880284 | A | ATATATTT others(12): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03041.hp2 |
a0020a0032 | a0020c0022a0032c0141 | a0020c0022t0001a0032c0141t0001 | a0020c0022t0001g0227 a0032c0141t0001g0233 |
2 | 68 | 0.0294 | 19 | c.352 others(36): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 21/56 | chr7 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71953400 | A | AAGAGATT others(12): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0032 | a0032c0054 | a0032c0054t0001 | a0032c0054t0001g0067 | 1 | 68 | 0.0147 | 19 | c.281 others(36): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 17/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71953400 | A | AAGAGGTT others(12): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(234): Show |
a0001a0002a0004others(35): Show | a0001c0001a0001c0028a0001c0062others(57): Show | a0001c0001t0001a0001c0028t0001a0001c0062t0001others(60): Show | a0001c0001t0001g0050 a0001c0001t0001g0147 a0001c0001t0001g0157 others(234): Show |
237 | 304 | 0.7796 | 19 | c.281 others(36): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 17/29 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104181 | A | AAAGGGAG others(12): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02647.hp2 HG02886.hp1 others(5): Show |
a0001a0006a0018others(2): Show | a0001c0001a0006c0018a0018c0047others(3): Show | a0001c0001t0001a0006c0018t0001a0018c0047t0009others(3): Show | a0001c0001t0001g0088 a0001c0001t0001g0123 a0006c0018t0001g0154 others(5): Show |
8 | 189 | 0.0423 | 19 | c.816 others(36): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 22/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104469 | C | CGGGCCAC others(12): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02723.hp2 |
a0037a0043 | a0037c0055a0043c0051 | a0037c0055t0002a0043c0051t0002 | a0037c0055t0002g0192 a0043c0051t0002g0194 |
2 | 198 | 0.0101 | 19 | c.816 others(34): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 22/45 | chr16 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100320690 | A | AAGGCAAG others(12): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 304 | 0.0033 | 19 | c.349 others(36): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321756 | A | AAAGAAAG others(12): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 135 | 0.0074 | 19 | c.349 others(36): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKHD1L1_chr8_109357461_109542207 | 109410726 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG02895.hp1 HG03486.hp1 |
a0007a0008 | a0007c0007a0008c0008 | a0007c0007t0006a0008c0008t0019 | a0007c0007t0006g0015 a0008c0008t0019g0054 |
2 | 56 | 0.0357 | 19 | c.208 others(36): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PKHD1L1_chr8_109357461_109542207 | 109487942 | A | AAGGAAGG others(12): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0115 | 1 | 280 | 0.0036 | 19 | c.988 others(38): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 59/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PKHD1L1_chr8_109357461_109542207 | 109538047 | A | ATTTTTTT others(12): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG03453.hp1 others(2): Show |
a0002a0008 | a0002c0002a0008c0008 | a0002c0002t0013a0008c0008t0001a0008c0008t0018others(1): Show | a0002c0002t0013g0105 a0008c0008t0001g0095 a0008c0008t0018g0094 others(2): Show |
5 | 114 | 0.0439 | 19 | c.*79 others(30): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 841 | chr8 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51627154 | G | GATAAAAA others(12): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02280.hp1 HG02622.hp1 others(5): Show |
a0018a0023a0024others(5): Show | a0018c0070a0023c0088a0024c0023others(5): Show | a0018c0070t0008a0023c0088t0006a0024c0023t0018others(5): Show | a0018c0070t0008g0090 a0023c0088t0006g0114 a0024c0023t0018g0081 others(5): Show |
8 | 132 | 0.0606 | 19 | c.116 others(36): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 65/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51950220 | A | AAAAAAAT others(12): Show |
intron_variant | MODIFIER | HG01175.hp2 HG01952.hp1 NA20300.hp2 |
a0003a0021 | a0003c0007a0003c0015a0021c0044 | a0003c0007t0001a0003c0015t0001a0021c0044t0001 | a0003c0007t0001g0042 a0003c0015t0001g0040 a0021c0044t0001g0043 |
3 | 44 | 0.0682 | 19 | c.590 others(38): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 36/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51950220 | A | AAAAATAT others(12): Show |
intron_variant | MODIFIER | HG00741.hp2 NA18988.hp2 |
a0003a0012 | a0003c0007a0012c0027 | a0003c0007t0001a0012c0027t0002 | a0003c0007t0001g0037 a0012c0027t0002g0005 |
2 | 43 | 0.0465 | 19 | c.590 others(38): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 36/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 51976944 | T | TAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG00741.hp1 HG03225.hp1 HG03225.hp2 others(1): Show |
a0001a0014a0037others(1): Show | a0001c0001a0014c0071a0037c0068others(1): Show | a0001c0001t0001a0014c0071t0013a0037c0068t0001others(1): Show | a0001c0001t0001g0062 a0014c0071t0013g0093 a0037c0068t0001g0091 others(1): Show |
4 | 36 | 0.1111 | 19 | c.575 others(40): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | |||||||
PKLR_chr1_155284293_155306438 | 155299491 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0038 | 1 | 51 | 0.0196 | 19 | c.283 others(34): Show |
PKLR | ENSG00000143627.19 | transcript | ENST00000342741.6 | protein_coding | 2/10 | chr1 | TogoVar | |||||||
PKN1_chr19_14428306_14476859 | 14442065 | A | ATTTTTTT others(12): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02300.hp1 HG02615.hp2 |
a0001a0003a0007 | a0001c0004a0003c0043a0007c0014 | a0001c0004t0001a0003c0043t0002a0007c0014t0001 | a0001c0004t0001g0340 a0003c0043t0002g0166 a0007c0014t0001g0339 |
3 | 151 | 0.0199 | 19 | c.322 others(34): Show |
PKN1 | ENSG00000123143.13 | transcript | ENST00000242783.11 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PKN1_chr19_14428306_14476859 | 14447363 | T | TGGGCTTA others(12): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0234 | 1 | 374 | 0.0027 | 19 | c.610 others(34): Show |
PKN1 | ENSG00000123143.13 | transcript | ENST00000242783.11 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PKN1_chr19_14428306_14476859 | 14470944 | T | TGCCTCAA others(12): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02257.hp1 HG02559.hp1 others(19): Show |
a0003a0004a0010others(1): Show | a0003c0003a0003c0006a0003c0010others(4): Show | a0003c0003t0001a0003c0006t0001a0003c0010t0001others(4): Show | a0003c0003t0001g0239 a0003c0003t0001g0362 a0003c0006t0001g0033 others(19): Show |
22 | 247 | 0.0891 | 19 | c.262 others(36): Show |
PKN1 | ENSG00000123143.13 | transcript | ENST00000242783.11 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PKN3_chr9_128697503_128725916 | 128701941 | C | CTTTTTTT others(12): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 | 1 | 8 | 0.1250 | 19 | c.-97 others(28): Show |
PKN3 | ENSG00000160447.7 | transcript | ENST00000291906.5 | protein_coding | 561 | chr9 | TogoVar | |||||||
PKN3_chr9_128697503_128725916 | 128717117 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01074.hp1 others(15): Show |
a0001a0006a0008 | a0001c0001a0006c0012a0008c0024 | a0001c0001t0001a0001c0001t0004a0006c0012t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0014 a0001c0001t0001g0102 others(7): Show |
18 | 29 | 0.6207 | 19 | c.198 others(36): Show |
PKN3 | ENSG00000160447.7 | transcript | ENST00000291906.5 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42987402 | A | ATATATAT others(12): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01192.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0048 a0001c0001t0004g0049 |
2 | 332 | 0.0060 | 19 | c.-57 others(38): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | chr21 | TogoVar | |||||||
PKNOX1_chr21_42969562_43038931 | 43029424 | G | GTTTTTTT others(12): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0002 | a0001c0002t0052 | a0001c0002t0052g0332 | 1 | 9 | 0.1111 | 19 | c.110 others(36): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PKP2_chr12_32785755_32901777 | 32855773 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0139 | 1 | 130 | 0.0077 | 19 | c.117 others(38): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PKP2_chr12_32785755_32901777 | 32865681 | C | CAAAAAAA others(12): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0139 | 1 | 126 | 0.0079 | 19 | c.117 others(38): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PLA2G4A_chr1_186823949_186993981 | 186915511 | A | ATTTTCTT others(12): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 308 | 0.0032 | 19 | c.558 others(36): Show |
PLA2G4A | ENSG00000116711.10 | transcript | ENST00000367466.4 | protein_coding | 7/17 | chr1 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48057480 | C | CTTTTTTT others(12): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0015 | a0001c0015t0004 | a0001c0015t0004g0062 | 1 | 86 | 0.0116 | 19 | c.125 others(38): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 14/16 | chr19 | TogoVar | |||||||
PLA2G4C_chr19_48042846_48115817 | 48105941 | C | CTTTCTTT others(12): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 197 | 0.0051 | 19 | c.9-4 others(30): Show |
PLA2G4C | ENSG00000105499.14 | transcript | ENST00000599921.6 | protein_coding | 2/16 | chr19 | TogoVar | |||||||
PLA2R1_chr2_159927006_160067615 | 159935945 | A | ATTTTTTT others(12): Show |
3_prime_UTR_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0003 | a0001c0003t0088 | a0001c0003t0088g0179 | 1 | 25 | 0.0400 | 19 | c.*58 others(30): Show |
PLA2R1 | ENSG00000153246.13 | transcript | ENST00000283243.13 | protein_coding | 30/30 | 5832 | chr2 | TogoVar | ||||||
PLAAT3_chr11_63569462_63619433 | 63619037 | C | CAAAAAAA others(12): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG02683.hp2 HG02809.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0011 a0001c0001t0001g0156 a0001c0001t0001g0165 others(9): Show |
13 | 302 | 0.0430 | 19 | c.-47 others(30): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 4605 | chr11 | TogoVar |