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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKD1_chr16_2083708_2140898 | 2091243 | GCTGCCGG others(43): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG02735.hp2 NA20752.hp1 |
a0003a0015 | a0003c0042a0015c0106a0015c0120 | a0003c0042t0011a0015c0106t0011a0015c0120t0013 | a0003c0042t0011g0203 a0015c0106t0011g0205 a0015c0120t0013g0202 |
3 | 214 | 0.0140 | -50 | c.117 others(68): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 42/45 | chr16 | TogoVar | |||||||
PKD2L1_chr10_100283149_100335228 | 100314989 | AGGAAGGA others(43): Show |
A | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 287 | 0.0035 | -50 | c.349 others(69): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
PKP2_chr12_32785755_32901777 | 32803983 | ACAGTTAA others(43): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0002 | a0002c0019 | a0002c0019t0003 | a0002c0019t0003g0215 | 1 | 340 | 0.0029 | -50 | c.201 others(69): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 9/12 | chr12 | TogoVar | |||||||
PKP2_chr12_32785755_32901777 | 32858085 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02965.hp2 HG03098.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005a0002c0002t0015 | a0002c0002t0002g0237 a0002c0002t0005g0234 a0002c0002t0005g0318 others(1): Show |
4 | 251 | 0.0159 | -50 | c.117 others(69): Show |
PKP2 | ENSG00000057294.18 | transcript | ENST00000340811.9 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
PLCB1_chr20_8127266_8889900 | 8821486 | AAAAAAAA others(43): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02622.hp2 HG03041.hp1 others(1): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0025 | a0001c0002t0001a0001c0002t0003a0001c0006t0002others(1): Show | a0001c0002t0001g0031 a0001c0002t0003g0079 a0001c0006t0002g0055 others(1): Show |
4 | 106 | 0.0377 | -50 | c.342 others(71): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 31/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PLCH1_chr3_155474881_155750071 | 155566300 | CACATATA others(43): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG03540.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0028 a0001c0002t0001g0029 |
2 | 262 | 0.0076 | -50 | c.866 others(67): Show |
PLCH1 | ENSG00000114805.18 | transcript | ENST00000460012.7 | protein_coding | 7/22 | chr3 | TogoVar | |||||||
PLCXD3_chr5_41301952_41515601 | 41471803 | TTCCCCTC others(43): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0193 | 1 | 240 | 0.0042 | -50 | c.103 others(69): Show |
PLCXD3 | ENSG00000182836.11 | transcript | ENST00000377801.8 | protein_coding | 1/2 | chr5 | TogoVar | |||||||
PLCXD3_chr5_41301952_41515601 | 41471848 | CTCCCCTC others(43): Show |
C | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0239 | 1 | 225 | 0.0044 | -50 | c.103 others(69): Show |
PLCXD3 | ENSG00000182836.11 | transcript | ENST00000377801.8 | protein_coding | 1/2 | chr5 | TogoVar | |||||||
PLD1_chr3_171595404_171815483 | 171764874 | AGAAAGAA others(43): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0005 | a0001c0005t0010 | a0001c0005t0010g0088 | 1 | 283 | 0.0035 | -50 | c.-31 others(69): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | |||||||
PLD1_chr3_171595404_171815483 | 171764899 | GGAAGGAA others(43): Show |
G | intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0289 | 1 | 283 | 0.0035 | -50 | c.-31 others(69): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | |||||||
PLEKHH2_chr2_43632260_43772987 | 43677904 | CGGGGCGG others(43): Show |
C | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0197 | 1 | 254 | 0.0039 | -50 | c.124 others(65): Show |
PLEKHH2 | ENSG00000152527.14 | transcript | ENST00000282406.9 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PLGRKT_chr9_5352971_5442925 | 5441985 | CACACGTA others(43): Show |
C | upstream_gene_variant | MODIFIER | HG02602.hp2 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0030 |
2 | 412 | 0.0049 | -50 | c.-43 others(61): Show |
PLGRKT | ENSG00000107020.10 | transcript | ENST00000223864.7 | protein_coding | 4061 | chr9 | TogoVar | |||||||
PLGRKT_chr9_5352971_5442925 | 5442003 | TGTATATA others(43): Show |
T | upstream_gene_variant | MODIFIER | NA18970.hp1 NA18972.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 a0001c0001t0001g0284 |
2 | 345 | 0.0058 | -50 | c.-43 others(61): Show |
PLGRKT | ENSG00000107020.10 | transcript | ENST00000223864.7 | protein_coding | 4079 | chr9 | TogoVar | |||||||
PLPPR3_chr19_807488_826955 | 816572 | CCCAGCCA others(43): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 2 | 396 | 0.0051 | -50 | c.76- others(63): Show |
PLPPR3 | ENSG00000129951.19 | transcript | ENST00000520876.8 | protein_coding | 2/7 | chr19 | TogoVar | |||||||
PLSCR4_chr3_146187335_146256105 | 146224821 | TACAAAGG others(43): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp2 others(75): Show |
a0002a0003 | a0002c0002a0002c0008a0003c0003 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(10): Show | a0002c0002t0001g0036 a0002c0002t0001g0038 a0002c0002t0001g0040 others(56): Show |
78 | 378 | 0.2063 | -50 | c.-21 others(67): Show |
PLSCR4 | ENSG00000114698.15 | transcript | ENST00000354952.7 | protein_coding | 1/8 | chr3 | TogoVar | |||||||
PLXDC2_chr10_19811432_20294856 | 20126615 | CACACACG others(43): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01884.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0027a0001c0001t0061others(1): Show | a0001c0001t0004g0107 a0001c0001t0027g0156 a0001c0001t0061g0030 others(1): Show |
4 | 178 | 0.0225 | -50 | c.542 others(69): Show |
PLXDC2 | ENSG00000120594.17 | transcript | ENST00000377252.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
POFUT2_chr21_45258935_45292895 | 45268871 | GCACCCCG others(43): Show |
G | intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0078 | 1 | 434 | 0.0023 | -50 | c.101 others(67): Show |
POFUT2 | ENSG00000186866.17 | transcript | ENST00000349485.10 | protein_coding | 7/8 | chr21 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325061 | TGAGTGAG others(43): Show |
T | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 388 | 0.0026 | -50 | c.194 others(67): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325093 | TGAGTGAG others(43): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0056 | 1 | 392 | 0.0026 | -50 | c.194 others(67): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
POLR3F_chr20_18462390_18489646 | 18486123 | TATAAATA others(43): Show |
T | downstream_gene_variant | MODIFIER | HG03471.hp1 HG03490.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0009 | a0001c0001t0001g0109 a0001c0002t0009g0042 |
2 | 450 | 0.0044 | -50 | c.*25 others(61): Show |
POLR3F | ENSG00000132664.13 | transcript | ENST00000377603.5 | protein_coding | 1478 | chr20 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75988695 | GGGTGGAG others(43): Show |
G | downstream_gene_variant | MODIFIER | HG02040.hp1 NA18980.hp2 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0171 a0002c0001t0002g0174 |
2 | 274 | 0.0073 | -50 | c.*22 others(61): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1841 | chr7 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75988740 | AGGCCAGG others(43): Show |
A | downstream_gene_variant | MODIFIER | HG02273.hp2 HG02300.hp2 NA18977.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0152 a0001c0002t0001g0154 a0001c0002t0001g0155 others(1): Show |
4 | 276 | 0.0145 | -50 | c.*22 others(61): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 1886 | chr7 | TogoVar | |||||||
POR_chr7_75910155_75991855 | 75988855 | GGTGTGGA others(43): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00621.hp1 others(50): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0002t0001g0023 a0001c0002t0001g0025 a0001c0002t0001g0035 others(50): Show |
53 | 247 | 0.2146 | -50 | c.*23 others(61): Show |
POR | ENSG00000127948.17 | transcript | ENST00000461988.6 | protein_coding | 2001 | chr7 | TogoVar | |||||||
POTEF_chr2_130068535_130134222 | 130120968 | ATGCGCGT others(43): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02257.hp1 others(9): Show |
a0003a0006a0016 | a0003c0004a0006c0008a0016c0019 | a0003c0004t0003a0006c0008t0003a0016c0019t0003 | a0003c0004t0003g0005 a0003c0004t0003g0074 a0003c0004t0003g0078 others(6): Show |
12 | 164 | 0.0732 | -50 | c.-93 others(65): Show |
POTEF | ENSG00000196604.13 | transcript | ENST00000409914.7 | protein_coding | 2/16 | chr2 | TogoVar | |||||||
POTEJ_chr2_130606440_130663037 | 130613265 | CATATATA others(43): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02559.hp2 HG02896.hp2 |
a0006 | a0006c0008a0006c0033 | a0006c0008t0001a0006c0033t0001 | a0006c0008t0001g0012 a0006c0008t0001g0013 a0006c0033t0001g0016 |
3 | 127 | 0.0236 | -50 | c.410 others(67): Show |
POTEJ | ENSG00000222038.4 | transcript | ENST00000409602.2 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39454655 | GATATATA others(43): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01261.hp1 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0018 a0001c0001t0002g0066 others(5): Show |
8 | 14 | 0.5714 | -50 | c.148 others(69): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PPA1_chr10_70197835_70238429 | 70220739 | TTATATAT others(43): Show |
T | intron_variant | MODIFIER | HG00639.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0222 a0001c0001t0003g0228 |
2 | 324 | 0.0062 | -50 | c.124 others(67): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
PPA1_chr10_70197835_70238429 | 70220925 | TTATATAT others(43): Show |
T | intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 294 | 0.0034 | -50 | c.124 others(67): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 2/10 | chr10 | TogoVar | |||||||
PPIAL4A_chr1_120884771_120895530 | 120889436 | AAAAAAAG others(43): Show |
A | upstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 273 | 0.0037 | -50 | c.-38 others(59): Show |
PPIAL4A | ENSG00000263353.4 | transcript | ENST00000577856.3 | protein_coding | 334 | chr1 | TogoVar | |||||||
PPM1J_chr1_112704998_112720332 | 112706464 | CCACACAC others(43): Show |
C | downstream_gene_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 346 | 0.0029 | -50 | c.*36 others(61): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3533 | chr1 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150165251 | GTAAATAT others(43): Show |
G | intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0101 | 1 | 310 | 0.0032 | -50 | c.306 others(69): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPP1R8_chr1_27825782_27856676 | 27853193 | ATGGGGGG others(43): Show |
A | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01071.hp2 others(42): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0023 others(31): Show |
45 | 338 | 0.1331 | -50 | c.*27 others(61): Show |
PPP1R8 | ENSG00000117751.18 | transcript | ENST00000311772.10 | protein_coding | 1518 | chr1 | TogoVar | |||||||
PPP1R8_chr1_27825782_27856676 | 27853388 | TGCCCGGC others(43): Show |
T | downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0046 | 1 | 338 | 0.0030 | -50 | c.*29 others(61): Show |
PPP1R8 | ENSG00000117751.18 | transcript | ENST00000311772.10 | protein_coding | 1713 | chr1 | TogoVar | |||||||
PPP1R8_chr1_27825782_27856676 | 27854315 | TGGGGGGG others(43): Show |
T | downstream_gene_variant | MODIFIER | HG02451.hp2 NA18966.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0084 a0001c0001t0008g0093 |
2 | 334 | 0.0060 | -50 | c.*38 others(61): Show |
PPP1R8 | ENSG00000117751.18 | transcript | ENST00000311772.10 | protein_coding | 2640 | chr1 | TogoVar | |||||||
PPP2R2C_chr4_6315581_6477614 | 6353867 | GCCCCCCC others(43): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 296 | 0.0034 | -50 | c.626 others(67): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 5/8 | chr4 | TogoVar | |||||||
PPP3CA_chr4_101018418_101352526 | 101124675 | AAGAAAGA others(43): Show |
A | intron_variant | MODIFIER | NA18993.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0176 | 1 | 190 | 0.0053 | -50 | c.260 others(69): Show |
PPP3CA | ENSG00000138814.17 | transcript | ENST00000394854.8 | protein_coding | 2/13 | chr4 | TogoVar | |||||||
PPP5C_chr19_46342087_46395975 | 46389362 | AACACACA others(43): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00642.hp1 HG02071.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0024 others(14): Show |
19 | 77 | 0.2468 | -50 | c.135 others(67): Show |
PPP5C | ENSG00000011485.15 | transcript | ENST00000012443.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PPP6R1_chr19_55224779_55264017 | 55257390 | GCGGGTGT others(43): Show |
G | intron_variant | MODIFIER | HG03831.hp2 | a0012 | a0012c0025 | a0012c0025t0003 | a0012c0025t0003g0304 | 1 | 376 | 0.0027 | -50 | c.-7+ others(64): Show |
PPP6R1 | ENSG00000105063.19 | transcript | ENST00000412770.7 | protein_coding | 1/23 | chr19 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50434577 | CCTGGAGG others(43): Show |
C | intron_variant | MODIFIER | NA18983.hp1 | a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0149 | 1 | 338 | 0.0030 | -50 | c.140 others(67): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PRAG1_chr8_8312736_8391439 | 8347848 | ACTCTGTC others(43): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01891.hp2 HG02055.hp2 others(27): Show |
a0006a0007a0008others(5): Show | a0006c0005a0007c0014a0008c0009others(6): Show | a0006c0005t0001a0006c0005t0002a0007c0014t0001others(7): Show | a0006c0005t0001g0207 a0006c0005t0002g0133 a0006c0005t0002g0136 others(26): Show |
30 | 334 | 0.0898 | -50 | c.216 others(69): Show |
PRAG1 | ENSG00000275342.6 | transcript | ENST00000615670.5 | protein_coding | 3/5 | chr8 | TogoVar | |||||||
PRDM12_chr9_130659594_130687983 | 130680622 | CTAAAAAA others(43): Show |
C | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0295 | 1 | 390 | 0.0026 | -50 | c.683 others(65): Show |
PRDM12 | ENSG00000130711.5 | transcript | ENST00000253008.3 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PRDM6_chr5_123084241_123199266 | 123089102 | TCTCTCTC others(43): Show |
T | upstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0211 | 1 | 306 | 0.0033 | -50 | c.-43 others(59): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 138 | chr5 | TogoVar | |||||||
PRDM6_chr5_123084241_123199266 | 123089112 | TCTCTCTC others(43): Show |
T | upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 296 | 0.0034 | -50 | c.-42 others(59): Show |
PRDM6 | ENSG00000061455.11 | transcript | ENST00000407847.5 | protein_coding | 128 | chr5 | TogoVar | |||||||
PRDX3_chr10_119162720_119183812 | 119181924 | TGGGCGGG others(43): Show |
T | upstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0007 | 1 | 424 | 0.0024 | -50 | c.-31 others(61): Show |
PRDX3 | ENSG00000165672.7 | transcript | ENST00000298510.4 | protein_coding | 3113 | chr10 | TogoVar | |||||||
PREX2_chr8_67947046_68242032 | 68115554 | TATGTTGT others(43): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG03516.hp1 |
a0001 | a0001c0003 | a0001c0003t0010a0001c0003t0021 | a0001c0003t0010g0163 a0001c0003t0021g0130 |
2 | 188 | 0.0106 | -50 | c.314 others(67): Show |
PREX2 | ENSG00000046889.19 | transcript | ENST00000288368.5 | protein_coding | 25/39 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PRIMPOL_chr4_184644738_184699952 | 184653022 | GGGAAAGA others(43): Show |
G | intron_variant | MODIFIER | HG03209.hp2 HG03471.hp2 HG03516.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0004a0002c0006t0001 | a0001c0001t0001g0054 a0001c0001t0001g0072 a0001c0001t0004g0070 others(2): Show |
5 | 326 | 0.0153 | -50 | c.-60 others(65): Show |
PRIMPOL | ENSG00000164306.11 | transcript | ENST00000314970.11 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151737934 | ACTCCCAC others(43): Show |
A | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0172 | 1 | 85 | 0.0118 | -50 | c.466 others(69): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 3/15 | chr7 | TogoVar | |||||||
PRKCB_chr16_23830983_24225611 | 23865493 | ATATATAT others(43): Show |
A | intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0003 | a0001c0003t0044 | a0001c0003t0044g0131 | 1 | 123 | 0.0081 | -50 | c.205 others(69): Show |
PRKCB | ENSG00000166501.14 | transcript | ENST00000643927.1 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2121698 | AGGGTCAC others(43): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 283 | 0.0035 | -50 | c.335 others(69): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2121716 | AGGGTCAC others(43): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG01358.hp1 HG02004.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0054 a0001c0001t0001g0064 a0001c0001t0001g0075 others(15): Show |
18 | 283 | 0.0636 | -50 | c.335 others(69): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |