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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIP4P1_chr14_20452681_20466434 | 20458109 | GACTGAGG others(2): Show |
G | 3_prime_UTR_variant | MODIFIER | NA18954.hp1 NA19003.hp1 NA19064.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 4 | 468 | 0.0086 | -9 | c.*44 others(18): Show |
PIP4P1 | ENSG00000165782.11 | transcript | ENST00000250489.9 | protein_coding | 7/7 | 441 | chr14 | TogoVar | |||||
PIP4P2_chr8_90988802_91045859 | 91040394 | TCACCACC others(2): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG02818.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0024a0001c0001t0001g0025others(2): Show | 6 | 342 | 0.0175 | -9 | c.106 others(24): Show |
PIP4P2 | ENSG00000155099.8 | transcript | ENST00000285419.8 | protein_coding | 1/6 | chr8 | TogoVar | ||||||
PIP5KL1_chr9_127915881_127935777 | 127922733 | AAAAGAAA others(2): Show |
A | intron_variant | MODIFIER | NA19003.hp2 NA19074.hp2 NA19091.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090a0001c0001t0001g0091a0001c0001t0001g0102 | 3 | 400 | 0.0075 | -9 | c.918 others(24): Show |
PIP5KL1 | ENSG00000167103.12 | transcript | ENST00000388747.9 | protein_coding | 9/9 | chr9 | TogoVar | ||||||
PIRT_chr17_10817470_10843087 | 10827465 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02559.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0022a0001c0001t0023 | a0001c0001t0007g0053a0001c0001t0007g0164a0001c0001t0007g0186others(7): Show | 11 | 454 | 0.0242 | -9 | c.-13 others(28): Show |
PIRT | ENSG00000233670.7 | transcript | ENST00000580256.3 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
PIR_chrX_15379799_15498333 | 15387073 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02630.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140a0001c0001t0001g0148a0001c0001t0001g0235 | 3 | 272 | 0.0110 | -9 | c.761 others(26): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 9/9 | chrX | TogoVar | ||||||
PIR_chrX_15379799_15498333 | 15454479 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 272 | 0.0037 | -9 | c.480 others(26): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 5/9 | chrX | TogoVar | ||||||
PITPNA_chr17_1512718_1567792 | 1563700 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00733.hp1 HG01070.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0330a0001c0001t0001g0335a0001c0001t0001g0336others(13): Show | 16 | 368 | 0.0435 | -9 | c.-11 others(20): Show |
PITPNA | ENSG00000174238.16 | transcript | ENST00000313486.12 | protein_coding | 909 | chr17 | TogoVar | ||||||
PITPNB_chr22_27846669_27924256 | 27869515 | CATTAAAC others(2): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG00738.hp1 others(37): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0001g0019others(36): Show | 40 | 366 | 0.1093 | -9 | c.534 others(26): Show |
PITPNB | ENSG00000180957.19 | transcript | ENST00000335272.10 | protein_coding | 8/11 | chr22 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67420374 | TCCTCCCT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp2 others(112): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(55): Show | a0001c0001t0001g0082a0001c0001t0001g0086a0001c0001t0001g0087others(112): Show | 115 | 218 | 0.5275 | -9 | c.48+ others(26): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67472332 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01167.hp2 HG01169.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(3): Show | a0001c0001t0001g0160a0001c0001t0001g0200a0001c0001t0001g0201others(5): Show | 8 | 218 | 0.0367 | -9 | c.49- others(26): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67599021 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 NA19043.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0001t0008a0001c0001t0073others(1): Show | a0001c0001t0007g0103a0001c0001t0008g0179a0001c0001t0073g0067others(1): Show | 4 | 218 | 0.0184 | -9 | c.366 others(28): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67599025 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG03195.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0030 | a0001c0001t0029g0055a0001c0001t0030g0058 | 2 | 218 | 0.0092 | -9 | c.366 others(28): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67631053 | GTTATTAT others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01109.hp2 HG02723.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014a0001c0001t0017others(2): Show | a0001c0001t0006g0076a0001c0001t0014g0019a0001c0001t0017g0054others(2): Show | 5 | 218 | 0.0229 | -9 | c.367 others(26): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67644425 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0086a0001c0001t0001g0158a0001c0001t0001g0209others(17): Show | 20 | 218 | 0.0917 | -9 | c.462 others(28): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
PITPNC1_chr17_67372281_67702256 | 67647463 | GGTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0086a0001c0001t0001g0158a0001c0001t0003g0043others(9): Show | 12 | 218 | 0.0551 | -9 | c.462 others(28): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 6/8 | chr17 | TogoVar | ||||||
PITPNM2_chr12_122978480_123156090 | 122995576 | TGCCACCA others(2): Show |
T | conservative_inframe_deletion | MODERATE | HG01884.hp2 HG02486.hp2 HG02559.hp1 others(15): Show |
a0002 | a0002c0003a0002c0008a0002c0022 | a0002c0003t0004a0002c0003t0009a0002c0008t0004others(1): Show | a0002c0003t0004g0001a0002c0003t0004g0002a0002c0003t0004g0004others(13): Show | 18 | 230 | 0.0783 | -9 | c.185 others(18): Show |
p.Gly others(13): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 14/26 | 2403/7134 | 1858/4050 | 620/1349 | chr12 | TogoVar | ||
PITPNM2_chr12_122978480_123156090 | 123128264 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG02602.hp2 HG02683.hp1 others(5): Show |
a0001a0009 | a0001c0001a0001c0004a0009c0023 | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(2): Show | a0001c0001t0001g0019a0001c0001t0002g0166a0001c0001t0002g0186others(5): Show | 8 | 230 | 0.0348 | -9 | c.-19 others(30): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 1/25 | chr12 | TogoVar | ||||||
PITPNM2_chr12_122978480_123156090 | 123153764 | CAAAAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG02080.hp2 NA18972.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0003a0001c0001t0005a0004c0007t0001 | a0001c0001t0003g0145a0001c0001t0005g0140a0001c0001t0005g0142others(2): Show | 5 | 230 | 0.0217 | -9 | c.-32 others(20): Show |
PITPNM2 | ENSG00000090975.14 | transcript | ENST00000320201.10 | protein_coding | 2675 | chr12 | TogoVar | ||||||
PITRM1_chr10_3132728_3177782 | 3133867 | CTTATTCA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01891.hp1 HG02818.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0011a0001c0020 | a0001c0011t0001a0001c0020t0001 | a0001c0011t0001g0143a0001c0020t0001g0141a0001c0020t0001g0142others(1): Show | 4 | 446 | 0.0090 | -9 | c.*41 others(20): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 3860 | chr10 | TogoVar | ||||||
PITRM1_chr10_3132728_3177782 | 3134419 | TTTCTATT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00733.hp2 HG00741.hp1 others(40): Show |
a0001a0003a0005others(1): Show | a0001c0005a0001c0011a0001c0015others(7): Show | a0001c0005t0002a0001c0011t0003a0001c0015t0002others(7): Show | a0001c0005t0002g0039a0001c0005t0002g0040a0001c0005t0002g0041others(36): Show | 43 | 446 | 0.0964 | -9 | c.*36 others(20): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 3308 | chr10 | TogoVar | ||||||
PITRM1_chr10_3132728_3177782 | 3171146 | TTAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01192.hp2 HG02602.hp2 HG03669.hp1 others(6): Show |
a0001 | a0001c0002a0001c0013 | a0001c0002t0001a0001c0013t0001 | a0001c0002t0001g0012a0001c0002t0001g0275a0001c0002t0001g0277others(4): Show | 9 | 446 | 0.0202 | -9 | c.57- others(22): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1/26 | chr10 | TogoVar | ||||||
PIWIL1_chr12_130332887_130377637 | 130371123 | GAATCACC others(2): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG02083.hp2 HG02738.hp1 others(28): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0011a0001c0001t0019a0001c0001t0021others(7): Show | a0001c0001t0011g0033a0001c0001t0019g0003a0001c0001t0019g0282others(22): Show | 31 | 425 | 0.0729 | -9 | c.232 others(24): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PIWIL1_chr12_130332887_130377637 | 130372597 | CAAAAAAA others(2): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00741.hp2 others(24): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0006 | a0001c0001t0006a0001c0001t0027a0001c0001t0029others(5): Show | a0001c0001t0006g0009a0001c0001t0006g0012a0001c0001t0006g0014others(20): Show | 27 | 425 | 0.0635 | -9 | c.*97 others(18): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 21/21 | 975 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
PIWIL3_chr22_24714034_24779720 | 24720259 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG00741.hp1 others(112): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0002c0034others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(18): Show | a0001c0001t0001g0188a0001c0001t0001g0189a0001c0001t0001g0190others(108): Show | 115 | 386 | 0.2979 | -9 | c.235 others(26): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 19/20 | chr22 | TogoVar | ||||||
PIWIL3_chr22_24714034_24779720 | 24730253 | TACTTGGG others(2): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG02040.hp2 HG02451.hp1 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0002others(3): Show | a0001c0001t0001g0188a0001c0001t0001g0189a0001c0001t0001g0190others(10): Show | 13 | 386 | 0.0337 | -9 | c.170 others(28): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 14/20 | chr22 | TogoVar | ||||||
PKD1L1_chr7_47769614_47953466 | 47796830 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(117): Show |
a0001a0002a0003others(33): Show | a0001c0006a0001c0007a0001c0013others(60): Show | a0001c0006t0001a0001c0007t0001a0001c0013t0001others(60): Show | a0001c0006t0001g0051a0001c0006t0001g0101a0001c0006t0001g0109others(116): Show | 120 | 306 | 0.3922 | -9 | c.819 others(26): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 54/56 | chr7 | TogoVar | ||||||
PKD1L1_chr7_47769614_47953466 | 47880263 | TACATATA others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01106.hp2 HG01346.hp2 others(7): Show |
a0001a0014a0056others(1): Show | a0001c0008a0014c0057a0014c0127others(5): Show | a0001c0008t0001a0014c0057t0001a0014c0127t0001others(5): Show | a0001c0008t0001g0030a0001c0008t0001g0031a0001c0008t0001g0046others(7): Show | 10 | 306 | 0.0327 | -9 | c.352 others(26): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 21/56 | chr7 | TogoVar | ||||||
PKD1L1_chr7_47769614_47953466 | 47880264 | ACATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG02004.hp2 HG02602.hp1 others(1): Show |
a0013a0036a0043others(1): Show | a0013c0076a0036c0049a0043c0067others(1): Show | a0013c0076t0001a0036c0049t0001a0043c0067t0001others(1): Show | a0013c0076t0001g0110a0036c0049t0001g0200a0043c0067t0001g0112others(1): Show | 4 | 306 | 0.0131 | -9 | c.352 others(26): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 21/56 | chr7 | TogoVar | ||||||
PKD1L1_chr7_47769614_47953466 | 47943164 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02895.hp2 others(4): Show |
a0016a0031a0032others(2): Show | a0016c0022a0016c0142a0031c0097others(3): Show | a0016c0022t0001a0016c0142t0003a0031c0097t0001others(3): Show | a0016c0022t0001g0231a0016c0022t0001g0232a0016c0142t0003g0237others(4): Show | 7 | 306 | 0.0229 | -9 | c.160 others(24): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 2/56 | chr7 | TogoVar | ||||||
PKD1L3_chr16_71924538_72005402 | 71986914 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00609.hp2 others(26): Show |
a0001a0004 | a0001c0001a0001c0028a0001c0065others(5): Show | a0001c0001t0001a0001c0028t0001a0001c0065t0001others(5): Show | a0001c0001t0001g0175a0001c0001t0001g0184a0001c0001t0001g0185others(26): Show | 29 | 308 | 0.0942 | -9 | c.586 others(24): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 4/29 | chr16 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100299024 | CGCAACCT others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00621.hp2 others(63): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0002c0009others(12): Show | a0001c0001t0001a0002c0003t0001a0002c0009t0001others(12): Show | a0001c0001t0001g0271a0001c0001t0001g0294a0001c0001t0001g0295others(62): Show | 66 | 306 | 0.2157 | -9 | c.478 others(24): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 3/15 | chr10 | TogoVar | ||||||
PKD2L2_chr5_137884457_137947747 | 137897033 | ATATTATT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(85): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0007others(76): Show | 88 | 336 | 0.2619 | -9 | c.525 others(26): Show |
PKD2L2 | ENSG00000078795.17 | transcript | ENST00000508883.6 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PKD2L2_chr5_137884457_137947747 | 137910231 | CAATAATA others(2): Show |
C | intron_variant | MODIFIER | HG01169.hp2 HG01884.hp1 HG03490.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0015a0001c0001t0001g0117a0001c0001t0001g0134others(9): Show | 13 | 336 | 0.0387 | -9 | c.132 others(28): Show |
PKD2L2 | ENSG00000078795.17 | transcript | ENST00000508883.6 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PKD2_chr4_88002635_88082777 | 88066363 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00597.hp1 others(66): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0017others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0017t0002others(1): Show | a0001c0001t0002g0052a0001c0001t0002g0053a0001c0001t0002g0120others(46): Show | 69 | 342 | 0.2018 | -9 | c.235 others(26): Show |
PKD2 | ENSG00000118762.8 | transcript | ENST00000237596.7 | protein_coding | 12/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PKHD1L1_chr8_109357461_109542207 | 109373015 | CTCATAAA others(2): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG03130.hp1 HG03225.hp2 others(1): Show |
a0016a0065 | a0016c0013a0065c0033 | a0016c0013t0012a0065c0033t0007 | a0016c0013t0012g0136a0016c0013t0012g0137a0016c0013t0012g0138others(1): Show | 4 | 282 | 0.0142 | -9 | c.164 others(26): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 2/77 | chr8 | TogoVar | ||||||
PKHD1L1_chr8_109357461_109542207 | 109414961 | CATTATTA others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02451.hp1 others(13): Show |
a0002a0003a0006others(5): Show | a0002c0002a0003c0015a0006c0006others(6): Show | a0002c0002t0001a0003c0015t0017a0006c0006t0009others(6): Show | a0002c0002t0001g0065a0002c0002t0001g0099a0003c0015t0017g0112others(13): Show | 16 | 282 | 0.0567 | -9 | c.236 others(28): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 21/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PKIB_chr6_122605405_122731373 | 122718983 | GAAGAATG others(2): Show |
G | intron_variant | MODIFIER | HG00544.hp1 HG03579.hp1 HG04204.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0070a0001c0001t0004g0139a0001c0001t0004g0246others(3): Show | 6 | 312 | 0.0192 | -9 | c.169 others(26): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PKLR_chr1_155284293_155306438 | 155290989 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00609.hp1 others(84): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0002others(6): Show | a0001c0001t0001g0047a0001c0001t0001g0054a0001c0001t0001g0072others(49): Show | 87 | 311 | 0.2797 | -9 | c.161 others(26): Show |
PKLR | ENSG00000143627.19 | transcript | ENST00000342741.6 | protein_coding | 10/10 | chr1 | TogoVar | ||||||
PKMYT1_chr16_2967808_2985446 | 2983522 | TTAATAAT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG01074.hp1 HG01099.hp2 HG01496.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(7): Show | 13 | 392 | 0.0332 | -9 | c.-35 others(20): Show |
PKMYT1 | ENSG00000127564.17 | transcript | ENST00000262300.13 | protein_coding | 3077 | chr16 | TogoVar | ||||||
PKN2_chr1_88679273_88841255 | 88837391 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02280.hp2 others(4): Show |
a0001 | a0001c0005 | a0001c0005t0008a0001c0005t0012 | a0001c0005t0008g0045a0001c0005t0008g0046a0001c0005t0008g0047others(4): Show | 7 | 330 | 0.0212 | -9 | c.*39 others(20): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 1137 | chr1 | TogoVar | ||||||
PKN3_chr9_128697503_128725916 | 128698177 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02647.hp2 HG02809.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0033a0001c0001t0001g0036a0001c0001t0001g0038others(4): Show | 9 | 360 | 0.0250 | -9 | c.-47 others(20): Show |
PKN3 | ENSG00000160447.7 | transcript | ENST00000291906.5 | protein_coding | 4325 | chr9 | TogoVar | ||||||
PKNOX1_chr21_42969562_43038931 | 42993646 | CTTTGTTT others(2): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00733.hp2 others(30): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0005a0001c0001t0006a0001c0001t0020others(4): Show | a0001c0001t0005g0157a0001c0001t0005g0159a0001c0001t0005g0160others(29): Show | 33 | 362 | 0.0912 | -9 | c.-56 others(28): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX1_chr21_42969562_43038931 | 42993726 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp1 HG01099.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0029a0001c0001t0001g0128a0001c0001t0001g0129others(23): Show | 27 | 362 | 0.0746 | -9 | c.-56 others(28): Show |
PKNOX1 | ENSG00000160199.15 | transcript | ENST00000291547.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PKNOX2_chr11_125159751_125438389 | 125315303 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG02451.hp2 HG03195.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005a0001c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0002g0012a0001c0001t0003g0222a0001c0001t0006g0173others(4): Show | 7 | 222 | 0.0315 | -9 | c.-12 others(30): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP3_chr11_389209_409908 | 401566 | GGCCCCGC others(2): Show |
G | intron_variant | MODIFIER | HG03471.hp1 NA18906.hp1 NA19240.hp1 others(2): Show |
a0001a0003 | a0001c0004a0001c0008a0003c0014 | a0001c0004t0001a0001c0008t0001a0003c0014t0001 | a0001c0004t0001g0008a0001c0004t0001g0194a0001c0008t0001g0195others(2): Show | 5 | 216 | 0.0232 | -9 | c.173 others(26): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | chr11 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 407271 | TGCGGGGT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG00544.hp2 others(197): Show |
a0001a0002a0004others(12): Show | a0001c0001a0001c0002a0001c0003others(29): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(31): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0011others(197): Show | 200 | 216 | 0.9259 | -9 | c.*27 others(20): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 2364 | chr11 | TogoVar | ||||||
PLA1A_chr3_119592885_119634811 | 119622149 | GGAAGAAG others(2): Show |
G | intron_variant | MODIFIER | HG01255.hp1 HG01261.hp1 HG01975.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0045a0001c0001t0001g0226a0001c0001t0001g0227others(7): Show | 11 | 420 | 0.0262 | -9 | c.101 others(28): Show |
PLA1A | ENSG00000144837.9 | transcript | ENST00000273371.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLA1A_chr3_119592885_119634811 | 119622202 | AAGAAGAA others(2): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG02486.hp1 NA19043.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0002t0006others(2): Show | a0001c0001t0001g0069a0001c0001t0002g0161a0001c0002t0006g0157others(2): Show | 5 | 420 | 0.0119 | -9 | c.101 others(28): Show |
PLA1A | ENSG00000144837.9 | transcript | ENST00000273371.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PLA2G12B_chr10_72929762_72959806 | 72959401 | ATATGCTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02056.hp2 HG03490.hp1 HG03492.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0014a0001c0001t0001g0044 | 6 | 326 | 0.0184 | -9 | c.-47 others(20): Show |
PLA2G12B | ENSG00000138308.6 | transcript | ENST00000373032.4 | protein_coding | 4596 | chr10 | TogoVar | ||||||
PLA2G15_chr16_68240373_68266058 | 68254342 | TATTTATT others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02717.hp1 HG02896.hp1 others(2): Show |
a0001a0003 | a0001c0002a0003c0007 | a0001c0002t0001a0001c0002t0006a0003c0007t0001 | a0001c0002t0001g0073a0001c0002t0006g0071a0001c0002t0006g0072others(2): Show | 5 | 270 | 0.0185 | -9 | c.285 others(24): Show |
PLA2G15 | ENSG00000103066.13 | transcript | ENST00000219345.10 | protein_coding | 2/5 | chr16 | TogoVar |