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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PIP5K1C_chr19_3625183_3705468 | 3697057 | GGGAGGAC others(13): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02572.hp2 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0035 | a0001c0002t0003g0196 a0001c0002t0035g0143 |
2 | 332 | 0.0060 | -20 | c.94+ others(35): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 1/17 | chr19 | TogoVar | |||||||
PIP5K1C_chr19_3625183_3705468 | 3697503 | AGGGAGGA others(13): Show |
A | intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0315 | 1 | 332 | 0.0030 | -20 | c.94+ others(35): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 1/17 | chr19 | TogoVar | |||||||
PIPOX_chr17_29038141_29062216 | 29039609 | CATACATA others(13): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02922.hp1 others(5): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(1): Show | a0001c0001t0001g0011 a0001c0001t0005g0013 a0001c0001t0005g0027 others(3): Show |
8 | 396 | 0.0202 | -20 | c.-36 others(31): Show |
PIPOX | ENSG00000179761.12 | transcript | ENST00000323372.9 | protein_coding | 3531 | chr17 | TogoVar | |||||||
PIPOX_chr17_29038141_29062216 | 29039613 | CATATATA others(13): Show |
C | upstream_gene_variant | MODIFIER | HG01123.hp1 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 |
2 | 396 | 0.0051 | -20 | c.-36 others(31): Show |
PIPOX | ENSG00000179761.12 | transcript | ENST00000323372.9 | protein_coding | 3527 | chr17 | TogoVar | |||||||
PIP_chr7_143127077_143144739 | 143134183 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG01192.hp1 HG01952.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0055 a0001c0001t0001g0098 others(1): Show |
7 | 340 | 0.0206 | -20 | c.96- others(33): Show |
PIP | ENSG00000159763.4 | transcript | ENST00000291009.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PIR_chrX_15379799_15498333 | 15387063 | CTTTTCTT others(13): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02615.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0125 a0001c0001t0003g0127 a0001c0001t0003g0157 others(2): Show |
5 | 272 | 0.0184 | -20 | c.761 others(37): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 9/9 | chrX | TogoVar | |||||||
PIR_chrX_15379799_15498333 | 15387068 | CTTTTCTT others(13): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01099.hp1 HG02735.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0104 a0001c0001t0001g0231 a0001c0002t0001g0022 others(3): Show |
6 | 272 | 0.0221 | -20 | c.761 others(37): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 9/9 | chrX | TogoVar | |||||||
PIR_chrX_15379799_15498333 | 15433987 | GAGGAGGA others(13): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00438.hp2 others(89): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0034 others(87): Show |
92 | 272 | 0.3382 | -20 | c.481 others(37): Show |
PIR | ENSG00000087842.11 | transcript | ENST00000380420.10 | protein_coding | 5/9 | chrX | TogoVar | |||||||
PISD_chr22_31613491_31667215 | 31626493 | GCTCTGGC others(13): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG01891.hp2 HG01993.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0073 a0001c0001t0005g0074 a0001c0001t0005g0106 others(6): Show |
9 | 328 | 0.0274 | -20 | c.322 others(37): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
PISD_chr22_31613491_31667215 | 31637152 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0096 | 1 | 328 | 0.0031 | -20 | c.321 others(39): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
PISD_chr22_31613491_31667215 | 31637156 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG02735.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0048 a0001c0001t0004g0059 a0001c0001t0004g0128 |
3 | 328 | 0.0092 | -20 | c.321 others(39): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
PISD_chr22_31613491_31667215 | 31637158 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG02015.hp2 HG02071.hp1 HG02074.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0001t0004a0001c0006t0009 | a0001c0001t0002g0010 a0001c0001t0004g0046 a0001c0001t0004g0053 others(2): Show |
5 | 328 | 0.0152 | -20 | c.321 others(39): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
PISD_chr22_31613491_31667215 | 31637164 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG02055.hp2 HG03130.hp1 HG03471.hp2 |
a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0056 a0003c0004t0002g0057 a0003c0004t0002g0058 |
3 | 328 | 0.0092 | -20 | c.321 others(39): Show |
PISD | ENSG00000241878.12 | transcript | ENST00000439502.7 | protein_coding | 3/7 | chr22 | TogoVar | |||||||
PITPNB_chr22_27846669_27924256 | 27885212 | TAAAAAAA others(13): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG02622.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0227 a0001c0001t0001g0242 a0001c0001t0002g0285 others(8): Show |
14 | 366 | 0.0383 | -20 | c.456 others(37): Show |
PITPNB | ENSG00000180957.19 | transcript | ENST00000335272.10 | protein_coding | 7/11 | chr22 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67373892 | GATATATA others(13): Show |
G | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02723.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0018a0001c0001t0022others(4): Show | a0001c0001t0017g0054 a0001c0001t0017g0060 a0001c0001t0017g0062 others(8): Show |
11 | 218 | 0.0505 | -20 | c.-42 others(31): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 3388 | chr17 | TogoVar | |||||||
PITPNC1_chr17_67372281_67702256 | 67408673 | TCTTTCTT others(13): Show |
T | intron_variant | MODIFIER | HG01433.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0050 | a0001c0001t0009g0206 a0001c0001t0050g0202 |
2 | 218 | 0.0092 | -20 | c.48+ others(37): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67425197 | GCACACGC others(13): Show |
G | intron_variant | MODIFIER | HG01496.hp1 HG02451.hp1 HG02886.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0016a0001c0001t0019a0001c0001t0025others(3): Show | a0001c0001t0016g0001 a0001c0001t0019g0101 a0001c0001t0025g0192 others(3): Show |
6 | 218 | 0.0275 | -20 | c.48+ others(37): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67425203 | GCACACAC others(13): Show |
G | intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 218 | 0.0046 | -20 | c.48+ others(37): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67442204 | CATATATA others(13): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG02280.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(6): Show | a0001c0001t0002g0102 a0001c0001t0002g0106 a0001c0001t0007g0107 others(8): Show |
11 | 218 | 0.0505 | -20 | c.48+ others(37): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67502744 | CATTGTAT others(13): Show |
C | intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0157 | 1 | 218 | 0.0046 | -20 | c.49- others(37): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67599020 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0072 | a0001c0001t0072g0064 | 1 | 218 | 0.0046 | -20 | c.366 others(39): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNM3_chr17_6446263_6561555 | 6481853 | TAGAGAGA others(13): Show |
T | intron_variant | MODIFIER | HG02040.hp2 HG02071.hp1 NA18970.hp1 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0012 | a0001c0002t0001g0104 a0001c0005t0012g0105 a0001c0005t0012g0107 |
3 | 218 | 0.0138 | -20 | c.587 others(37): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 6/19 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6481985 | CCTCTCTC others(13): Show |
C | intron_variant | MODIFIER | HG02056.hp1 HG02080.hp2 HG02135.hp2 others(4): Show |
a0002a0021 | a0002c0004a0002c0017a0021c0015 | a0002c0004t0001a0002c0004t0008a0002c0004t0014others(4): Show | a0002c0004t0001g0185 a0002c0004t0008g0080 a0002c0004t0014g0156 others(4): Show |
7 | 218 | 0.0321 | -20 | c.587 others(37): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 6/19 | chr17 | TogoVar | |||||||
PITPNM3_chr17_6446263_6561555 | 6554727 | AATAGACC others(13): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp1 HG00673.hp1 others(22): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(16): Show | a0001c0001t0001g0137 a0001c0001t0001g0141 a0001c0001t0001g0142 others(22): Show |
25 | 218 | 0.1147 | -20 | c.22+ others(35): Show |
PITPNM3 | ENSG00000091622.16 | transcript | ENST00000262483.13 | protein_coding | 1/19 | chr17 | TogoVar | |||||||
PITRM1_chr10_3132728_3177782 | 3168915 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG03209.hp2 HG03654.hp1 others(3): Show |
a0001a0005 | a0001c0002a0001c0022a0005c0018 | a0001c0002t0001a0001c0022t0001a0005c0018t0001 | a0001c0002t0001g0247 a0001c0002t0001g0257 a0001c0022t0001g0147 others(3): Show |
6 | 446 | 0.0135 | -20 | c.159 others(37): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 2/26 | chr10 | TogoVar | |||||||
PITRM1_chr10_3132728_3177782 | 3171146 | TTAAAAAA others(13): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG03209.hp2 NA18906.hp1 |
a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0147 a0001c0022t0001g0148 a0001c0022t0001g0149 |
3 | 446 | 0.0067 | -20 | c.57- others(33): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1/26 | chr10 | TogoVar | |||||||
PIWIL1_chr12_130332887_130377637 | 130338880 | GGGGGCGA others(13): Show |
G | intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0050 | 1 | 425 | 0.0024 | -20 | c.-13 others(35): Show |
PIWIL1 | ENSG00000125207.7 | transcript | ENST00000245255.7 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PIWIL2_chr8_22270316_22362568 | 22351436 | CATACATA others(13): Show |
C | intron_variant | MODIFIER | HG03471.hp1 NA21309.hp1 |
a0001a0009 | a0001c0001a0009c0015 | a0001c0001t0004a0009c0015t0023 | a0001c0001t0004g0206 a0009c0015t0023g0247 |
2 | 296 | 0.0068 | -20 | c.240 others(39): Show |
PIWIL2 | ENSG00000197181.12 | transcript | ENST00000356766.11 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PIWIL3_chr22_24714034_24779720 | 24764625 | CGTGTGTG others(13): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01258.hp1 HG03017.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0002a0003c0003t0002 | a0002c0002t0002g0005 a0003c0003t0002g0164 |
3 | 386 | 0.0078 | -20 | c.-22 others(37): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 1/20 | chr22 | TogoVar | |||||||
PKD1L1_chr7_47769614_47953466 | 47864576 | TTTTCTTT others(13): Show |
T | intron_variant | MODIFIER | HG02559.hp1 HG03710.hp1 |
a0010a0013 | a0010c0005a0013c0128 | a0010c0005t0002a0013c0128t0001 | a0010c0005t0002g0258 a0013c0128t0001g0239 |
2 | 306 | 0.0065 | -20 | c.414 others(37): Show |
PKD1L1 | ENSG00000158683.10 | transcript | ENST00000289672.7 | protein_coding | 26/56 | chr7 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71945266 | CTATATAT others(13): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02717.hp2 HG02922.hp2 |
a0003a0008a0042 | a0003c0004a0008c0007a0042c0064 | a0003c0004t0001a0008c0007t0002a0042c0064t0002 | a0003c0004t0001g0223 a0008c0007t0002g0301 a0042c0064t0002g0302 |
3 | 308 | 0.0097 | -20 | c.371 others(39): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71945289 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0012 | a0012c0013 | a0012c0013t0001 | a0012c0013t0001g0129 | 1 | 308 | 0.0033 | -20 | c.371 others(39): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71945301 | TATATACA others(13): Show |
T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00558.hp2 others(19): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0066a0001c0075others(9): Show | a0001c0001t0001a0001c0066t0001a0001c0075t0001others(10): Show | a0001c0001t0001g0217 a0001c0001t0001g0220 a0001c0066t0001g0043 others(19): Show |
22 | 308 | 0.0714 | -20 | c.371 others(39): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 22/29 | chr16 | TogoVar | |||||||
PKD1L3_chr16_71924538_72005402 | 71964309 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02809.hp2 HG03239.hp2 others(1): Show |
a0004a0005a0009others(1): Show | a0004c0005a0005c0003a0009c0012others(1): Show | a0004c0005t0001a0005c0003t0001a0009c0012t0001others(1): Show | a0004c0005t0001g0136 a0005c0003t0001g0183 a0009c0012t0001g0111 others(1): Show |
4 | 308 | 0.0130 | -20 | c.246 others(37): Show |
PKD1L3 | ENSG00000277481.2 | transcript | ENST00000620267.2 | protein_coding | 15/29 | chr16 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321663 | AAAAGAAA others(13): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01169.hp1 HG01261.hp1 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0103 a0001c0001t0001g0127 a0001c0001t0001g0140 others(15): Show |
18 | 306 | 0.0588 | -20 | c.349 others(37): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321738 | AGAAAGAA others(13): Show |
A | intron_variant | MODIFIER | HG02896.hp2 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 a0001c0001t0001g0275 |
2 | 306 | 0.0065 | -20 | c.349 others(37): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321740 | AAAGAAAG others(13): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 306 | 0.0033 | -20 | c.349 others(37): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321742 | AGAAAGAA others(13): Show |
A | intron_variant | MODIFIER | HG02109.hp1 NA18947.hp1 NA18949.hp2 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0001a0002c0003t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0175 a0002c0003t0001g0176 a0003c0004t0001g0192 others(2): Show |
5 | 306 | 0.0163 | -20 | c.349 others(37): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321746 | AGAAAGAA others(13): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01884.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0274 a0001c0001t0001g0299 |
3 | 306 | 0.0098 | -20 | c.349 others(37): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321748 | AAAGAAAG others(13): Show |
A | intron_variant | MODIFIER | HG02083.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0260 | 1 | 306 | 0.0033 | -20 | c.349 others(37): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321750 | AGAAAGAA others(13): Show |
A | intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 306 | 0.0033 | -20 | c.349 others(37): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100321756 | AAGGGAGG others(13): Show |
A | intron_variant | MODIFIER | NA18991.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0162 | 1 | 306 | 0.0033 | -20 | c.349 others(37): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKD2L2_chr5_137884457_137947747 | 137914031 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 336 | 0.0030 | -20 | c.132 others(39): Show |
PKD2L2 | ENSG00000078795.17 | transcript | ENST00000508883.6 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PKHD1L1_chr8_109357461_109542207 | 109389499 | AGTGTGTG others(13): Show |
A | intron_variant | MODIFIER | HG02735.hp2 | a0003 | a0003c0015 | a0003c0015t0003 | a0003c0015t0003g0133 | 1 | 282 | 0.0036 | -20 | c.697 others(35): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 8/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51884575 | CAAGAATA others(13): Show |
C | intron_variant | MODIFIER | HG00741.hp1 | a0013 | a0013c0071 | a0013c0071t0012 | a0013c0071t0012g0093 | 1 | 134 | 0.0075 | -20 | c.721 others(39): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 45/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 52014694 | CTGGATAG others(13): Show |
C | intron_variant | MODIFIER | HG02257.hp1 NA19240.hp2 |
a0003a0004 | a0003c0013a0004c0048 | a0003c0013t0001a0004c0048t0019 | a0003c0013t0001g0054 a0004c0048t0019g0015 |
2 | 134 | 0.0149 | -20 | c.560 others(39): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 34/66 | chr6 | TogoVar | |||||||
PKHD1_chr6_51610299_52092613 | 52014700 | AGATGGAT others(13): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG03139.hp1 HG03453.hp1 others(3): Show |
a0001a0002a0030others(2): Show | a0001c0033a0001c0061a0002c0005others(3): Show | a0001c0033t0001a0001c0061t0001a0002c0005t0004others(3): Show | a0001c0033t0001g0075 a0001c0061t0001g0064 a0002c0005t0004g0076 others(3): Show |
6 | 134 | 0.0448 | -20 | c.560 others(39): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 34/66 | chr6 | TogoVar | |||||||
PKIA_chr8_78511340_78610267 | 78524206 | ATATATAT others(13): Show |
A | intron_variant | MODIFIER | HG02004.hp2 HG02451.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0018a0001c0001t0019others(1): Show | a0001c0001t0013g0120 a0001c0001t0013g0122 a0001c0001t0018g0133 others(2): Show |
5 | 186 | 0.0269 | -20 | c.-15 others(39): Show |
PKIA | ENSG00000171033.13 | transcript | ENST00000396418.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PKIA_chr8_78511340_78610267 | 78536859 | TACACACA others(13): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG01099.hp2 HG01109.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007 a0001c0001t0001g0117 a0001c0001t0001g0118 others(2): Show |
6 | 186 | 0.0323 | -20 | c.-15 others(41): Show |
PKIA | ENSG00000171033.13 | transcript | ENST00000396418.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PKIB_chr6_122605405_122731373 | 122677842 | TCTTCCTT others(13): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0040 others(71): Show |
74 | 312 | 0.2372 | -20 | c.-9+ others(35): Show |
PKIB | ENSG00000135549.16 | transcript | ENST00000368452.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |