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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHF20_chr20_35767015_35955370 | 35903077 | C | CCTTTCCT others(24): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01517.hp1 HG03490.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0156 a0001c0001t0002g0159 a0001c0001t0002g0161 others(12): Show |
15 | 106 | 0.1415 | 31 | c.156 others(50): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 10/17 | chr20 | TogoVar | |||||||
PHF20_chr20_35767015_35955370 | 35904767 | C | CTCCTCCT others(24): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01071.hp2 HG02040.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0002a0001c0001t0021a0001c0004t0022others(1): Show | a0001c0001t0002g0152 a0001c0001t0002g0166 a0001c0001t0002g0176 others(11): Show |
14 | 15 | 0.9333 | 31 | c.156 others(50): Show |
PHF20 | ENSG00000025293.17 | transcript | ENST00000374012.8 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHF21A_chr11_45924319_46126454 | 45958419 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 100 | 0.0100 | 31 | c.997 others(48): Show |
PHF21A | ENSG00000135365.17 | transcript | ENST00000676320.1 | protein_coding | 10/18 | chr11 | TogoVar | |||||||
PHF24_chr9_34953285_34987544 | 34986774 | A | ACCCCCCC others(24): Show |
downstream_gene_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0148 | 1 | 448 | 0.0022 | 31 | c.*86 others(42): Show |
PHF24 | ENSG00000122733.12 | transcript | ENST00000242315.4 | protein_coding | 4231 | chr9 | TogoVar | |||||||
PHF2_chr9_93571584_93684587 | 93612222 | T | TGCAGTGA others(24): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0179 | 1 | 348 | 0.0029 | 31 | c.99- others(48): Show |
PHF2 | ENSG00000197724.12 | transcript | ENST00000359246.9 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PHF3_chr6_63630802_63731011 | 63727735 | A | ATATATAT others(24): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0191 | 1 | 220 | 0.0045 | 31 | c.*14 others(44): Show |
PHF3 | ENSG00000118482.12 | transcript | ENST00000262043.8 | protein_coding | 1725 | chr6 | TogoVar | |||||||
PHF3_chr6_63630802_63731011 | 63727737 | A | AAATATAT others(24): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0012 | a0012c0017 | a0012c0017t0081 | a0012c0017t0081g0112 | 1 | 80 | 0.0125 | 31 | c.*14 others(44): Show |
PHF3 | ENSG00000118482.12 | transcript | ENST00000262043.8 | protein_coding | 1727 | chr6 | TogoVar | |||||||
PHLDB2_chr3_111854265_111981517 | 111866014 | A | ATTTTTTT others(24): Show |
intron_variant | MODIFIER | HG03098.hp2 NA18941.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0011 | a0001c0001t0004g0197 a0001c0004t0011g0196 |
2 | 28 | 0.0714 | 31 | c.-15 others(48): Show |
PHLDB2 | ENSG00000144824.21 | transcript | ENST00000431670.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PHLDB3_chr19_43470103_43509746 | 43487591 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0075 | 1 | 310 | 0.0032 | 31 | c.115 others(48): Show |
PHLDB3 | ENSG00000176531.11 | transcript | ENST00000292140.10 | protein_coding | 9/15 | chr19 | TogoVar | |||||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0010 | a0010c0012 | a0010c0012t0013 | a0010c0012t0013g0074 | 1 | 22 | 0.0455 | 31 | c.157 others(52): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | AAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 22 | 0.0455 | 31 | c.157 others(52): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | AAAAATAT others(24): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01168.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 a0001c0001t0001g0092 |
2 | 23 | 0.0870 | 31 | c.157 others(52): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | AAATATAT others(24): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02976.hp1 HG03130.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0029 a0001c0002t0001g0114 a0001c0002t0001g0140 |
3 | 24 | 0.1250 | 31 | c.157 others(52): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62766076 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03098.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0106 a0001c0002t0001g0107 a0001c0002t0001g0137 |
3 | 24 | 0.1250 | 31 | c.157 others(52): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 1/16 | chr18 | TogoVar | |||||||
PHLPP1_chr18_62710541_62985433 | 62849828 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02071.hp2 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0029 a0001c0001t0001g0116 |
3 | 133 | 0.0226 | 31 | c.190 others(52): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | chr18 | TogoVar | |||||||
PHLPP1_chr18_62710541_62985433 | 62849830 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0104 | 1 | 91 | 0.0110 | 31 | c.190 others(52): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | chr18 | TogoVar | |||||||
PHLPP1_chr18_62710541_62985433 | 62849832 | A | AAATATAT others(24): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0098 a0001c0001t0010g0099 |
2 | 12 | 0.1667 | 31 | c.190 others(52): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHLPP1_chr18_62710541_62985433 | 62849832 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 11 | 0.0909 | 31 | c.190 others(52): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 3/16 | chr18 | TogoVar | |||||||
PHLPP1_chr18_62710541_62985433 | 62918429 | A | ATATATAT others(24): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0014 | a0014c0024 | a0014c0024t0019 | a0014c0024t0019g0060 | 1 | 95 | 0.0105 | 31 | c.280 others(50): Show |
PHLPP1 | ENSG00000081913.14 | transcript | ENST00000262719.10 | protein_coding | 9/16 | chr18 | TogoVar | |||||||
PHLPP2_chr16_71639924_71729701 | 71719964 | A | ATTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0279 | 1 | 7 | 0.1429 | 31 | c.-7+ others(46): Show |
PHLPP2 | ENSG00000040199.18 | transcript | ENST00000568954.5 | protein_coding | 1/18 | chr16 | TogoVar | |||||||
PHOSPHO1_chr17_49218366_49235787 | 49232385 | C | CAAAAAAA others(24): Show |
upstream_gene_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 120 | 0.0083 | 31 | c.-19 others(42): Show |
PHOSPHO1 | ENSG00000173868.12 | transcript | ENST00000310544.9 | protein_coding | 1599 | chr17 | TogoVar | |||||||
PHYKPL_chr5_178203471_178237802 | 178203504 | T | TAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0308 | 1 | 46 | 0.0217 | 31 | c.*54 others(42): Show |
PHYKPL | ENSG00000175309.15 | transcript | ENST00000308158.10 | protein_coding | 4966 | chr5 | TogoVar | |||||||
PI4KA_chr22_20702691_20863811 | 20780775 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0026 | 1 | 136 | 0.0074 | 31 | c.232 others(52): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 19/54 | chr22 | TogoVar | |||||||
PIAS2_chr18_46798218_46922507 | 46807383 | A | ATATATAT others(24): Show |
3_prime_UTR_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0248 | 1 | 41 | 0.0244 | 31 | c.*50 others(42): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5049 | chr18 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46807383 | A | ATATATAT others(24): Show |
3_prime_UTR_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 | 1 | 41 | 0.0244 | 31 | c.*50 others(42): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5049 | chr18 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72844752 | C | CACACACA others(24): Show |
intron_variant | MODIFIER | HG02165.hp2 HG02280.hp1 HG02523.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0102 a0002c0002t0001g0103 a0002c0002t0001g0114 others(4): Show |
7 | 335 | 0.0209 | 31 | c.122 others(50): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72844754 | C | CACACACA others(24): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0115 | 1 | 329 | 0.0030 | 31 | c.122 others(50): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72904433 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01496.hp1 HG02040.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010 a0001c0001t0001g0057 a0001c0001t0001g0203 others(8): Show |
11 | 26 | 0.4231 | 31 | c.148 others(50): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72912911 | G | GGTATGAT others(24): Show |
intron_variant | MODIFIER | HG03654.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 a0001c0001t0001g0292 |
2 | 344 | 0.0058 | 31 | c.164 others(50): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72912925 | A | ATATGATT others(24): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0211 | 1 | 344 | 0.0029 | 31 | c.164 others(50): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PID1_chr2_229018973_229276287 | 229114119 | C | CTCTCTCT others(24): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 220 | 0.0045 | 31 | c.177 others(50): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229134231 | G | GTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18951.hp1 NA18960.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0163 a0001c0001t0001g0236 a0001c0001t0003g0143 |
3 | 31 | 0.0968 | 31 | c.177 others(50): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
PIGR_chr1_206923522_206951466 | 206924438 | A | AGTGTGTG others(24): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 NA19072.hp1 NA20129.hp1 |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0002a0004c0004t0004 | a0001c0001t0001g0001 a0002c0002t0002g0094 a0004c0004t0004g0006 |
3 | 400 | 0.0075 | 31 | c.*58 others(42): Show |
PIGR | ENSG00000162896.6 | transcript | ENST00000356495.5 | protein_coding | 4083 | chr1 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG02630.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0028 |
3 | 93 | 0.0323 | 31 | c.*18 others(40): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 HG02135.hp2 NA19081.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 |
4 | 94 | 0.0426 | 31 | c.*18 others(40): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 HG03831.hp1 NA18612.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0017 others(1): Show |
4 | 94 | 0.0426 | 31 | c.*18 others(40): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 91 | 0.0110 | 31 | c.*18 others(40): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAAAAAAT others(24): Show |
downstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 91 | 0.0110 | 31 | c.*18 others(40): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIP5K1A_chr1_151193552_151254531 | 151251260 | C | CAAAAAAA others(24): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 29 | 0.0345 | 31 | c.*33 others(42): Show |
PIP5K1A | ENSG00000143398.20 | transcript | ENST00000368888.9 | protein_coding | 1730 | chr1 | TogoVar | |||||||
PIP5K1B_chr9_68700240_69014176 | 68925795 | A | ATTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG03471.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 a0001c0001t0001g0086 a0001c0001t0001g0089 others(2): Show |
5 | 32 | 0.1563 | 31 | c.120 others(50): Show |
PIP5K1B | ENSG00000107242.20 | transcript | ENST00000265382.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67522659 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0022 | 1 | 49 | 0.0204 | 31 | c.49- others(48): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITPNC1_chr17_67372281_67702256 | 67688338 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02004.hp1 NA18953.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0098 a0001c0001t0001g0112 a0001c0001t0001g0133 others(4): Show |
7 | 49 | 0.1429 | 31 | c.683 others(48): Show |
PITPNC1 | ENSG00000154217.16 | transcript | ENST00000581322.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PITRM1_chr10_3132728_3177782 | 3174583 | C | CTTTTTTT others(24): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG02818.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(1): Show | a0001c0001t0001g0125 a0001c0002t0001g0001 a0001c0002t0001g0044 others(2): Show |
5 | 11 | 0.4545 | 31 | c.-18 others(42): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 1802 | chr10 | TogoVar | |||||||
PIWIL3_chr22_24714034_24779720 | 24757079 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0351 | 1 | 61 | 0.0164 | 31 | c.356 others(46): Show |
PIWIL3 | ENSG00000184571.14 | transcript | ENST00000616349.5 | protein_coding | 4/20 | chr22 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109372905 | C | CAAAAAAA others(24): Show |
intron_variant | MODIFIER | HG00408.hp1 HG03927.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0316 a0002c0002t0001g0323 |
2 | 27 | 0.0741 | 31 | c.128 others(50): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
PJVK_chr2_178446378_178467102 | 178462077 | T | TAAGTCAG others(24): Show |
3_prime_UTR_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0011 | 1 | 406 | 0.0025 | 31 | c.*80 others(40): Show |
PJVK | ENSG00000204311.15 | transcript | ENST00000644580.2 | protein_coding | 7/7 | 804 | chr2 | TogoVar | ||||||
PKD2_chr4_88002635_88082777 | 88063805 | C | CTTCACAT others(24): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 340 | 0.0029 | 31 | c.211 others(50): Show |
PKD2 | ENSG00000118762.8 | transcript | ENST00000237596.7 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PKHD1L1_chr8_109357461_109542207 | 109410726 | C | CTTTTTTT others(24): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0256 | 1 | 55 | 0.0182 | 31 | c.208 others(48): Show |
PKHD1L1 | ENSG00000205038.12 | transcript | ENST00000378402.10 | protein_coding | 19/77 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51950220 | A | AAAAAAAT others(24): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0014 | a0014c0071 | a0014c0071t0013 | a0014c0071t0013g0093 | 1 | 42 | 0.0238 | 31 | c.590 others(50): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 36/66 | chr6 | TogoVar | |||||||
PKIA_chr8_78511340_78610267 | 78593777 | C | CGATTATG others(24): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG01169.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0010 | a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0132 others(6): Show |
10 | 184 | 0.0543 | 31 | c.-27 others(48): Show |
PKIA | ENSG00000171033.13 | transcript | ENST00000396418.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |