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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PHLPP2_chr16_71639924_71729701 | 71670695 | A | ACACACAC others(16): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0100 | 1 | 39 | 0.0256 | 23 | c.153 others(42): Show |
PHLPP2 | ENSG00000040199.18 | transcript | ENST00000568954.5 | protein_coding | 10/18 | chr16 | TogoVar | |||||||
PHOSPHO1_chr17_49218366_49235787 | 49232385 | C | CAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 HG03017.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 2 | 121 | 0.0165 | 23 | c.-19 others(34): Show |
PHOSPHO1 | ENSG00000173868.12 | transcript | ENST00000310544.9 | protein_coding | 1599 | chr17 | TogoVar | |||||||
PHOX2B_chr4_41739082_41753725 | 41742625 | C | CTTTTTTT others(16): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG03486.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 3 | 227 | 0.0132 | 23 | c.*31 others(34): Show |
PHOX2B | ENSG00000109132.7 | transcript | ENST00000226382.4 | protein_coding | 1456 | chr4 | TogoVar | |||||||
PHRF1_chr11_571470_617222 | 585280 | C | CCTTTCCA others(16): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0014 | 1 | 275 | 0.0036 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585290 | T | TTGAGGTA others(16): Show |
intron_variant | MODIFIER | HG01928.hp1 HG02300.hp1 NA20752.hp2 |
a0001 | a0001c0001a0001c0023 | a0001c0001t0001a0001c0023t0001 | a0001c0001t0001g0231 a0001c0001t0001g0263 a0001c0023t0001g0230 |
3 | 276 | 0.0109 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585395 | C | CCTTTCCA others(16): Show |
intron_variant | MODIFIER | NA18946.hp1 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 a0001c0001t0001g0212 |
2 | 209 | 0.0096 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585418 | C | CCTTTCCA others(16): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00558.hp2 others(29): Show |
a0001a0005a0015 | a0001c0001a0001c0033a0005c0007others(1): Show | a0001c0001t0001a0001c0033t0010a0005c0007t0001others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0008 a0001c0001t0001g0061 others(29): Show |
32 | 205 | 0.1561 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585464 | C | CCTTTCCA others(16): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01433.hp2 HG01884.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0006 a0003c0004t0003g0085 a0003c0004t0003g0215 others(1): Show |
4 | 247 | 0.0162 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585464 | C | CCTTTCCA others(16): Show |
intron_variant | MODIFIER | NA18946.hp2 NA18984.hp1 |
a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0113 a0001c0018t0001g0114 |
2 | 245 | 0.0082 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585474 | T | ATGAGGTA others(16): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01168.hp1 HG02622.hp2 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0006 a0003c0004t0003g0027 a0003c0004t0003g0084 others(1): Show |
4 | 217 | 0.0184 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | chr11 | TogoVar | |||||||
PHRF1_chr11_571470_617222 | 585497 | T | TTGAGGTA others(16): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02717.hp2 NA19087.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0003 | a0001c0001t0001g0163 a0003c0004t0003g0221 a0003c0004t0003g0268 |
3 | 268 | 0.0112 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585520 | T | TTGAGGTA others(16): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00597.hp2 others(30): Show |
a0001a0015 | a0001c0001a0001c0033a0015c0036 | a0001c0001t0001a0001c0033t0010a0015c0036t0001 | a0001c0001t0001g0008 a0001c0001t0001g0061 a0001c0001t0001g0062 others(30): Show |
33 | 208 | 0.1587 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585543 | T | TTGAGGTA others(16): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 240 | 0.0042 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585566 | T | TTGAGGTA others(16): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG00735.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 a0001c0001t0001g0144 a0001c0001t0001g0207 others(5): Show |
8 | 237 | 0.0338 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585589 | T | TTGAGGTA others(16): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02602.hp1 |
a0005a0018 | a0005c0007a0018c0037 | a0005c0007t0001a0018c0037t0001 | a0005c0007t0001g0267 a0018c0037t0001g0126 |
2 | 278 | 0.0072 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585612 | T | TTGAGGTA others(16): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0019 | a0019c0028 | a0019c0028t0001 | a0019c0028t0001g0130 | 1 | 276 | 0.0036 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(16): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 | 1 | 13 | 0.0769 | 23 | c.215 others(40): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHYH_chr10_13272799_13305064 | 13289218 | C | CGGAGTCT others(16): Show |
intron_variant | MODIFIER | NA18956.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0365 | 1 | 436 | 0.0023 | 23 | c.497 others(38): Show |
PHYH | ENSG00000107537.14 | transcript | ENST00000263038.9 | protein_coding | 5/8 | chr10 | TogoVar | |||||||
PHYKPL_chr5_178203471_178237802 | 178203504 | T | TAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG01175.hp2 HG01978.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0174 a0001c0001t0001g0226 others(9): Show |
13 | 58 | 0.2241 | 23 | c.*54 others(34): Show |
PHYKPL | ENSG00000175309.15 | transcript | ENST00000308158.10 | protein_coding | 4966 | chr5 | TogoVar | |||||||
PI4KA_chr22_20702691_20863811 | 20780775 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0035 | a0001c0035t0003 | a0001c0035t0003g0312 | 1 | 136 | 0.0074 | 23 | c.232 others(44): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 19/54 | chr22 | TogoVar | |||||||
PIAS1_chr15_68049315_68198847 | 68179564 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0205 | 1 | 30 | 0.0333 | 23 | c.148 others(42): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46807383 | A | ATATATAT others(16): Show |
3_prime_UTR_variant | MODIFIER | HG02109.hp2 HG03041.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0034a0001c0001t0138 | a0001c0001t0002g0297 a0001c0001t0034g0058 a0001c0001t0138g0105 |
3 | 43 | 0.0698 | 23 | c.*50 others(34): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5049 | chr18 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46807383 | A | ATATATAT others(16): Show |
3_prime_UTR_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0046 | 1 | 41 | 0.0244 | 23 | c.*50 others(34): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5049 | chr18 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46832892 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0246 | 1 | 173 | 0.0058 | 23 | c.120 others(42): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 9/13 | chr18 | TogoVar | |||||||
PIBF1_chr13_72777133_73021461 | 72904433 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18977.hp1 NA18988.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0249 a0001c0001t0001g0260 a0001c0001t0001g0283 others(1): Show |
4 | 19 | 0.2105 | 23 | c.148 others(42): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 73001582 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0063 | 1 | 7 | 0.1429 | 23 | c.222 others(42): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PID1_chr2_229018973_229276287 | 229184491 | A | ATATCCCG others(16): Show |
intron_variant | MODIFIER | NA20300.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0156 a0001c0001t0003g0158 |
2 | 19 | 0.1053 | 23 | c.31- others(40): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88754267 | T | TGGGCTGG others(16): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0227 | 1 | 280 | 0.0036 | 23 | c.65- others(38): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 1/50 | chr16 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 11050792 | C | CTATATAT others(16): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 NA20129.hp1 |
a0005a0008a0017 | a0005c0056a0008c0014a0017c0016 | a0005c0056t0001a0008c0014t0002a0017c0016t0003 | a0005c0056t0001g0061 a0008c0014t0002g0128 a0017c0016t0003g0091 |
3 | 157 | 0.0191 | 23 | c.160 others(42): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 2/55 | chr18 | TogoVar | |||||||
PIGK_chr1_77083989_77224430 | 77171436 | C | CAAAAAAA others(16): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0200 | 1 | 59 | 0.0169 | 23 | c.240 others(40): Show |
PIGK | ENSG00000142892.15 | transcript | ENST00000370812.8 | protein_coding | 3/10 | chr1 | TogoVar | |||||||
PIGL_chr17_16212210_16331411 | 16216786 | C | CAAAAAAA others(16): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0103 a0001c0001t0001g0107 a0001c0001t0001g0108 others(3): Show |
6 | 105 | 0.0571 | 23 | c.-44 others(32): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 423 | chr17 | TogoVar | |||||||
PIGL_chr17_16212210_16331411 | 16246672 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0126 a0001c0001t0003g0140 |
2 | 108 | 0.0185 | 23 | c.335 others(42): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PIGL_chr17_16212210_16331411 | 16298792 | C | CTGAGGTG others(16): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0246 | 1 | 244 | 0.0041 | 23 | c.336 others(40): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PIGL_chr17_16212210_16331411 | 16311467 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01516.hp2 HG02109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0198 a0001c0001t0001g0240 a0001c0001t0002g0070 others(6): Show |
9 | 11 | 0.8182 | 23 | c.427 others(40): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PIGN_chr18_62036164_62192056 | 62062882 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0013 | a0001c0013t0037 | a0001c0013t0037g0070 | 1 | 42 | 0.0238 | 23 | c.267 others(42): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 30/30 | chr18 | TogoVar | |||||||
PIGZ_chr3_196941356_196973833 | 196960737 | G | GAGAAGAA others(16): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0167 | 1 | 77 | 0.0130 | 23 | c.-1+ others(38): Show |
PIGZ | ENSG00000119227.8 | transcript | ENST00000412723.6 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
PIH1D2_chr11_112062798_112079017 | 112067685 | A | AAATATAT others(16): Show |
downstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 91 | 0.0110 | 23 | c.*18 others(32): Show |
PIH1D2 | ENSG00000150773.12 | transcript | ENST00000280350.10 | protein_coding | 112 | chr11 | TogoVar | |||||||
PIK3AP1_chr10_96588315_96725514 | 96711739 | A | ATTTTTTT others(16): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0076 | 1 | 29 | 0.0345 | 23 | c.14- others(38): Show |
PIK3AP1 | ENSG00000155629.15 | transcript | ENST00000339364.10 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
PIK3CD_chr1_9646731_9734114 | 9702500 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0065 | 1 | 4 | 0.2500 | 23 | c.-32 others(40): Show |
PIK3CD | ENSG00000171608.18 | transcript | ENST00000377346.9 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PIK3R2_chr19_18148163_18175532 | 18159144 | C | CTTTTTTT others(16): Show |
intron_variant | MODIFIER | HG00558.hp1 HG02148.hp1 NA19083.hp1 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0073 a0002c0003t0001g0074 a0002c0003t0001g0117 |
3 | 13 | 0.2308 | 23 | c.323 others(40): Show |
PIK3R2 | ENSG00000105647.19 | transcript | ENST00000222254.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PIK3R5_chr17_8873916_8970707 | 8925049 | A | AGATAGAT others(16): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0104 a0001c0002t0001g0105 |
2 | 296 | 0.0068 | 23 | c.-13 others(42): Show |
PIK3R5 | ENSG00000141506.15 | transcript | ENST00000447110.6 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
PILRA_chr7_100368487_100405096 | 100396733 | G | GTATGAAC others(16): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 362 | 0.0028 | 23 | c.674 others(40): Show |
PILRA | ENSG00000085514.16 | transcript | ENST00000198536.7 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
PIM1_chr6_37165152_37180428 | 37179353 | T | TATATAAT others(16): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 412 | 0.0024 | 23 | c.*52 others(34): Show |
PIM1 | ENSG00000137193.14 | transcript | ENST00000373509.6 | protein_coding | 3926 | chr6 | TogoVar | |||||||
PINK1_chr1_20628458_20656511 | 20634568 | T | TTAGGGTT others(16): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0011 | a0011c0011 | a0011c0011t0018 | a0011c0011t0018g0201 | 1 | 456 | 0.0022 | 23 | c.387 others(38): Show |
PINK1 | ENSG00000158828.8 | transcript | ENST00000321556.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PIP4K2A_chr10_22529854_22719578 | 22542312 | T | TGGCTGCA others(16): Show |
intron_variant | MODIFIER | HG03225.hp1 NA19043.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0038 a0001c0002t0001g0039 |
2 | 72 | 0.0278 | 23 | c.793 others(38): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 7/9 | chr10 | TogoVar | |||||||
PIP4K2A_chr10_22529854_22719578 | 22542312 | T | TGGCTGGA others(16): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00609.hp1 others(129): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(40): Show | a0001c0001t0001g0092 a0001c0001t0001g0100 a0001c0001t0001g0102 others(129): Show |
132 | 202 | 0.6535 | 23 | c.793 others(38): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 7/9 | chr10 | TogoVar | |||||||
PIP4K2A_chr10_22529854_22719578 | 22581288 | T | TTCTAGAT others(16): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(56): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0008others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(28): Show | a0001c0001t0001g0155 a0001c0001t0001g0161 a0001c0001t0002g0132 others(56): Show |
59 | 204 | 0.2892 | 23 | c.493 others(40): Show |
PIP4K2A | ENSG00000150867.14 | transcript | ENST00000376573.9 | protein_coding | 4/9 | chr10 | TogoVar | |||||||
PIP5K1A_chr1_151193552_151254531 | 151251260 | C | CAAAAAAA others(16): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG02165.hp1 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 a0001c0001t0001g0289 a0001c0001t0001g0299 |
3 | 31 | 0.0968 | 23 | c.*33 others(34): Show |
PIP5K1A | ENSG00000143398.20 | transcript | ENST00000368888.9 | protein_coding | 1730 | chr1 | TogoVar | |||||||
PIP5K1C_chr19_3625183_3705468 | 3691593 | T | TAACCCGC others(16): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00673.hp2 others(64): Show |
a0001 | a0001c0001a0001c0002a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0221 a0001c0001t0001g0228 a0001c0001t0001g0263 others(64): Show |
67 | 330 | 0.2030 | 23 | c.94+ others(38): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 1/17 | chr19 | TogoVar | |||||||
PIRT_chr17_10817470_10843087 | 10843041 | T | TTTCTTTT others(16): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0182 | 1 | 401 | 0.0025 | 23 | c.-52 others(34): Show |
PIRT | ENSG00000233670.7 | transcript | ENST00000580256.3 | protein_coding | 4955 | chr17 | TogoVar |