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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PKD2L1_chr10_100283149_100335228 | 100321742 | AGAAAGAA others(25): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG04204.hp1 NA19010.hp2 |
a0001a0008a0013 | a0001c0001a0008c0012a0013c0032 | a0001c0001t0001a0008c0012t0001a0013c0032t0001 | a0001c0001t0001g0180a0008c0012t0001g0018a0013c0032t0001g0303 | 3 | 306 | 0.0098 | -32 | c.349 others(49): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51989927 | GGAAGGAA others(25): Show |
G | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 134 | 0.0075 | -32 | c.575 others(53): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 52014694 | CTGGATAG others(25): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0055 | 1 | 134 | 0.0075 | -32 | c.560 others(51): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 34/66 | chr6 | TogoVar | ||||||
PKIA_chr8_78511340_78610267 | 78600280 | ATTGTGAG others(25): Show |
A | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 186 | 0.0054 | -32 | c.152 others(49): Show |
PKIA | ENSG00000171033.13 | transcript | ENST00000396418.7 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PKLR_chr1_155284293_155306438 | 155299020 | TTCTTTCT others(25): Show |
T | intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0204 | 1 | 311 | 0.0032 | -32 | c.283 others(49): Show |
PKLR | ENSG00000143627.19 | transcript | ENST00000342741.6 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
PKMYT1_chr16_2967808_2985446 | 2981117 | CGGTTCTC others(25): Show |
C | upstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 392 | 0.0026 | -32 | c.-11 others(43): Show |
PKMYT1 | ENSG00000127564.17 | transcript | ENST00000262300.13 | protein_coding | 672 | chr16 | TogoVar | ||||||
PKM_chr15_72194029_72236190 | 72209427 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG02129.hp2 HG02135.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0166a0001c0001t0001g0167others(9): Show | 18 | 370 | 0.0487 | -32 | c.565 others(47): Show |
PKM | ENSG00000067225.21 | transcript | ENST00000335181.10 | protein_coding | 5/10 | chr15 | TogoVar | ||||||
PKNOX2_chr11_125159751_125438389 | 125189433 | GTGTGTGT others(25): Show |
G | intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 222 | 0.0045 | -32 | c.-20 others(53): Show |
PKNOX2 | ENSG00000165495.16 | transcript | ENST00000298282.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP3_chr11_389209_409908 | 401321 | GCCCGCTC others(25): Show |
G | intron_variant | MODIFIER | HG00544.hp2 HG01515.hp2 NA18947.hp1 others(4): Show |
a0001a0009 | a0001c0001a0001c0009a0009c0023 | a0001c0001t0001a0001c0009t0001a0009c0023t0002 | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0024others(4): Show | 7 | 216 | 0.0324 | -32 | c.173 others(49): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PKP3_chr11_389209_409908 | 401630 | GCCCCGCT others(25): Show |
G | intron_variant | MODIFIER | HG06807.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074a0001c0001t0001g0081 | 2 | 216 | 0.0093 | -32 | c.173 others(49): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PLA2G12A_chr4_109704989_109735070 | 109720588 | AAAAAAAA others(25): Show |
A | intron_variant | MODIFIER | HG02622.hp1 HG03225.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0023 | 3 | 412 | 0.0073 | -32 | c.209 others(49): Show |
PLA2G12A | ENSG00000123739.11 | transcript | ENST00000243501.10 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
PLA2G12A_chr4_109704989_109735070 | 109720600 | AAAAAATA others(25): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0144a0001c0001t0009g0148 | 2 | 412 | 0.0049 | -32 | c.209 others(49): Show |
PLA2G12A | ENSG00000123739.11 | transcript | ENST00000243501.10 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
PLA2G12A_chr4_109704989_109735070 | 109727058 | ATAGGAAA others(25): Show |
A | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0274 | 1 | 412 | 0.0024 | -32 | c.208 others(49): Show |
PLA2G12A | ENSG00000123739.11 | transcript | ENST00000243501.10 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
PLA2G4A_chr1_186823949_186993981 | 186827634 | ATTTTTTT others(25): Show |
A | upstream_gene_variant | MODIFIER | HG01099.hp1 HG03654.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0012t0001 | a0001c0001t0001g0199a0001c0001t0001g0202a0001c0012t0001g0189 | 3 | 310 | 0.0097 | -32 | c.-14 others(43): Show |
PLA2G4A | ENSG00000116711.10 | transcript | ENST00000367466.4 | protein_coding | 1314 | chr1 | TogoVar | ||||||
PLA2G4A_chr1_186823949_186993981 | 186830945 | GCTTGCTT others(25): Show |
G | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 310 | 0.0032 | -32 | c.-70 others(49): Show |
PLA2G4A | ENSG00000116711.10 | transcript | ENST00000367466.4 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PLA2G5_chr1_20065194_20096911 | 20069663 | AAAAGAAA others(25): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00544.hp1 others(108): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0080a0001c0001t0001g0093a0001c0001t0002g0037others(50): Show | 111 | 430 | 0.2581 | -32 | c.-81 others(41): Show |
PLA2G5 | ENSG00000127472.11 | transcript | ENST00000375108.4 | protein_coding | 530 | chr1 | TogoVar | ||||||
PLA2G7_chr6_46699201_46740375 | 46734415 | TGAGAGAG others(25): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00609.hp1 others(28): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0019others(3): Show | a0001c0001t0001g0207a0002c0002t0002g0118a0002c0002t0002g0123others(14): Show | 31 | 392 | 0.0791 | -32 | c.-35 others(47): Show |
PLA2G7 | ENSG00000146070.17 | transcript | ENST00000274793.12 | protein_coding | 1/11 | chr6 | TogoVar | ||||||
PLAAT3_chr11_63569462_63619433 | 63572958 | TTGTGTGT others(25): Show |
T | downstream_gene_variant | MODIFIER | HG02886.hp1 HG03139.hp1 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0169others(1): Show | 4 | 352 | 0.0114 | -32 | c.*19 others(43): Show |
PLAAT3 | ENSG00000176485.14 | transcript | ENST00000415826.3 | protein_coding | 1503 | chr11 | TogoVar | ||||||
PLAAT5_chr11_63456404_63496167 | 63483801 | GTATATAT others(25): Show |
G | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 358 | 0.0028 | -32 | c.345 others(49): Show |
PLAAT5 | ENSG00000168004.10 | transcript | ENST00000540857.6 | protein_coding | 3/5 | chr11 | TogoVar | ||||||
PLAC8L1_chr5_146079313_146110577 | 146082208 | GATCCCTT others(25): Show |
G | downstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 368 | 0.0027 | -32 | c.*21 others(43): Show |
PLAC8L1 | ENSG00000173261.9 | transcript | ENST00000311450.9 | protein_coding | 2104 | chr5 | TogoVar | ||||||
PLAC8L1_chr5_146079313_146110577 | 146090396 | GTAGTGGC others(25): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02647.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0186a0001c0001t0004g0187a0001c0001t0004g0189 | 3 | 368 | 0.0082 | -32 | c.257 others(49): Show |
PLAC8L1 | ENSG00000173261.9 | transcript | ENST00000311450.9 | protein_coding | 2/3 | chr5 | TogoVar | ||||||
PLAC8_chr4_83085048_83119729 | 83112188 | TTATATAT others(25): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp1 HG02280.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0028a0001c0001t0003g0192a0001c0001t0003g0193others(1): Show | 5 | 408 | 0.0123 | -32 | c.-30 others(49): Show |
PLAC8 | ENSG00000145287.11 | transcript | ENST00000311507.9 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
PLCB1_chr20_8127266_8889900 | 8516679 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0053 | 1 | 106 | 0.0094 | -32 | c.247 others(53): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PLCB1_chr20_8127266_8889900 | 8781397 | AACACACA others(25): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG01071.hp2 others(33): Show |
a0001a0003a0005 | a0001c0001a0001c0004a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0015a0001c0001t0001g0019a0001c0001t0001g0035others(33): Show | 36 | 106 | 0.3396 | -32 | c.311 others(51): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PLCB1_chr20_8127266_8889900 | 8821494 | AAAATATG others(25): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0018 | a0001c0018t0017 | a0001c0018t0017g0018 | 1 | 106 | 0.0094 | -32 | c.342 others(53): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 31/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PLCB1_chr20_8127266_8889900 | 8831912 | CTCTTTCT others(25): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01517.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0005 | a0001c0001t0001g0092a0001c0002t0005g0054 | 2 | 106 | 0.0189 | -32 | c.342 others(53): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 31/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
PLCD4_chr2_218602899_218642175 | 218606421 | TACGCCTG others(25): Show |
T | upstream_gene_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 298 | 0.0034 | -32 | c.-16 others(43): Show |
PLCD4 | ENSG00000115556.14 | transcript | ENST00000450993.7 | protein_coding | 1477 | chr2 | TogoVar | ||||||
PLCG2_chr16_81774291_81967685 | 81896365 | AACACACA others(25): Show |
A | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0185 | 1 | 330 | 0.0030 | -32 | c.119 others(49): Show |
PLCG2 | ENSG00000197943.12 | transcript | ENST00000564138.6 | protein_coding | 13/32 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
PLD1_chr3_171595404_171815483 | 171639598 | CATATAAT others(25): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0091 | 1 | 294 | 0.0034 | -32 | c.259 others(51): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 23/26 | chr3 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171764892 | AAAGGAAG others(25): Show |
A | intron_variant | MODIFIER | HG03579.hp1 NA18942.hp1 NA18949.hp1 others(2): Show |
a0002 | a0002c0003 | a0002c0003t0003a0002c0003t0006 | a0002c0003t0003g0010a0002c0003t0003g0044a0002c0003t0003g0094others(2): Show | 5 | 294 | 0.0170 | -32 | c.-31 others(51): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | ||||||
PLD1_chr3_171595404_171815483 | 171764933 | GGAAAGAA others(25): Show |
G | intron_variant | MODIFIER | HG02300.hp2 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0223 | 1 | 294 | 0.0034 | -32 | c.-31 others(51): Show |
PLD1 | ENSG00000075651.17 | transcript | ENST00000351298.9 | protein_coding | 1/26 | chr3 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242163225 | GCTCCGCC others(25): Show |
G | intron_variant | MODIFIER | HG01981.hp2 HG02258.hp2 HG02886.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0029a0001c0001t0049a0001c0002t0058 | a0001c0001t0029g0033a0001c0001t0049g0120a0001c0002t0058g0151 | 3 | 188 | 0.0160 | -32 | c.736 others(51): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 5/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242268220 | CCAGATTT others(25): Show |
C | intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0082 | 1 | 188 | 0.0053 | -32 | c.496 others(49): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 3/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242394683 | CATATATG others(25): Show |
C | intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0165 | 1 | 188 | 0.0053 | -32 | c.190 others(51): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
PLD5_chr1_242077986_242529697 | 242465819 | ACTCGGGA others(25): Show |
A | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0113 | 1 | 188 | 0.0053 | -32 | c.189 others(51): Show |
PLD5 | ENSG00000180287.17 | transcript | ENST00000536534.7 | protein_coding | 1/9 | chr1 | TogoVar | ||||||
PLEKHA6_chr1_204213853_204364929 | 204234954 | TTATATAT others(25): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp1 HG02723.hp2 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0027a0001c0006t0046a0001c0006t0052 | a0001c0006t0027g0066a0001c0006t0027g0093a0001c0006t0046g0065others(1): Show | 4 | 270 | 0.0148 | -32 | c.241 others(51): Show |
PLEKHA6 | ENSG00000143850.16 | transcript | ENST00000272203.8 | protein_coding | 17/22 | chr1 | TogoVar | ||||||
PLEKHA6_chr1_204213853_204364929 | 204234991 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG03704.hp1 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0056a0001c0019t0003 | a0001c0001t0056g0009a0001c0019t0003g0012 | 2 | 270 | 0.0074 | -32 | c.241 others(51): Show |
PLEKHA6 | ENSG00000143850.16 | transcript | ENST00000272203.8 | protein_coding | 17/22 | chr1 | TogoVar | ||||||
PLEKHA6_chr1_204213853_204364929 | 204351052 | GGGCAACC others(25): Show |
G | intron_variant | MODIFIER | HG01192.hp2 | a0004 | a0004c0004 | a0004c0004t0007 | a0004c0004t0007g0246 | 1 | 270 | 0.0037 | -32 | c.-95 others(49): Show |
PLEKHA6 | ENSG00000143850.16 | transcript | ENST00000272203.8 | protein_coding | 1/22 | chr1 | TogoVar | ||||||
PLEKHG1_chr6_150594885_150848665 | 150700936 | GCTTGTAT others(25): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp2 HG02572.hp2 others(5): Show |
a0001a0004a0007others(1): Show | a0001c0001a0001c0037a0001c0040others(5): Show | a0001c0001t0001a0001c0037t0021a0001c0040t0001others(5): Show | a0001c0001t0001g0232a0001c0037t0021g0181a0001c0040t0001g0249others(5): Show | 8 | 272 | 0.0294 | -32 | c.-98 others(51): Show |
PLEKHG1 | ENSG00000120278.17 | transcript | ENST00000696526.1 | protein_coding | 2/16 | chr6 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 104102 | CCAGTCCC others(25): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0010 | a0010c0069 | a0010c0069t0019 | a0010c0069t0019g0204 | 1 | 210 | 0.0048 | -32 | c.46- others(47): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 162246 | GCAGACTG others(25): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02486.hp1 others(1): Show |
a0008a0032 | a0008c0024a0008c0025a0032c0058 | a0008c0024t0021a0008c0025t0045a0032c0058t0040 | a0008c0024t0021g0175a0008c0024t0021g0176a0008c0025t0045g0172others(1): Show | 4 | 210 | 0.0191 | -32 | c.264 others(49): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 162255 | TCGCCTGC others(25): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(79): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0002a0001c0052others(36): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(71): Show | a0001c0001t0001g0082a0001c0001t0001g0159a0001c0001t0005g0090others(79): Show | 82 | 210 | 0.3905 | -32 | c.264 others(49): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 162271 | ACGCGCCC others(25): Show |
A | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0075 | 1 | 210 | 0.0048 | -32 | c.264 others(49): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PLEKHG4B_chr5_87168_194966 | 183970 | CAGATAGA others(25): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02622.hp2 HG02809.hp2 HG02886.hp1 others(4): Show |
a0001a0014a0017others(1): Show | a0001c0015a0001c0036a0001c0051others(3): Show | a0001c0015t0035a0001c0015t0076a0001c0036t0077others(4): Show | a0001c0015t0035g0122a0001c0015t0076g0154a0001c0036t0077g0149others(4): Show | 7 | 210 | 0.0333 | -32 | c.*16 others(43): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 20/20 | 1668 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
PLEKHN1_chr1_961482_980865 | 972984 | GTGGGCTG others(25): Show |
G | frameshift_variant others(3): Show |
HIGH | HG02895.hp1 | a0015 | a0015c0041 | a0015c0041t0002 | a0015c0041t0002g0113 | 1 | 422 | 0.0024 | -32 | c.112 others(43): Show |
p.Val others(5): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 11/16 | 1177/3176 | 1127/1836 | 376/611 | chr1 | TogoVar | ||
PLEKHN1_chr1_961482_980865 | 975698 | CTGCCTCT others(25): Show |
C | 3_prime_UTR_variant | MODIFIER | HG03710.hp1 | a0003 | a0003c0023 | a0003c0023t0037 | a0003c0023t0037g0004 | 1 | 422 | 0.0024 | -32 | c.*11 others(43): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 16/16 | 1127 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
PLEKHN1_chr1_961482_980865 | 976714 | ACCAACCC others(25): Show |
A | downstream_gene_variant | MODIFIER | NA19030.hp2 | a0003 | a0003c0003 | a0003c0003t0013 | a0003c0003t0013g0012 | 1 | 422 | 0.0024 | -32 | c.*21 others(43): Show |
PLEKHN1 | ENSG00000187583.11 | transcript | ENST00000379410.8 | protein_coding | 850 | chr1 | TogoVar | ||||||
PLEKHS1_chr10_113746682_113788429 | 113785313 | CATATATA others(25): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00735.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0021 | a0001c0001t0001g0001a0001c0001t0001g0013a0001c0001t0001g0098others(5): Show | 11 | 402 | 0.0274 | -32 | c.*45 others(43): Show |
PLEKHS1 | ENSG00000148735.16 | transcript | ENST00000694986.1 | protein_coding | 1885 | chr10 | TogoVar | ||||||
PLIN2_chr9_19110761_19132492 | 19122486 | TACCATAT others(25): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01074.hp1 HG01123.hp2 others(44): Show |
a0001a0003a0008others(1): Show | a0001c0001a0001c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0003c0004t0001others(2): Show | a0001c0001t0001g0033a0001c0001t0001g0068a0001c0001t0001g0080others(18): Show | 47 | 448 | 0.1049 | -32 | c.309 others(49): Show |
PLIN2 | ENSG00000147872.10 | transcript | ENST00000276914.7 | protein_coding | 4/7 | chr9 | TogoVar | ||||||
PLPP1_chr5_55419854_55539964 | 55463780 | CATAAATA others(25): Show |
C | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0025 | 1 | 294 | 0.0034 | -32 | c.491 others(49): Show |
PLPP1 | ENSG00000067113.17 | transcript | ENST00000307259.9 | protein_coding | 3/5 | chr5 | TogoVar |