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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PI4K2A_chr10_97635671_97681434 | 97678922 | TGTGTGTG | T | downstream_gene_variant | MODIFIER | HG01361.hp1 HG01943.hp1 HG02071.hp1 others(14): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0019 a0001c0002t0004g0023 a0001c0002t0004g0024 others(14): Show |
17 | 350 | 0.0486 | -7 | c.*51 others(18): Show |
PI4K2A | ENSG00000155252.14 | transcript | ENST00000370631.4 | protein_coding | 2489 | chr10 | TogoVar | |||||||
PI4KA_chr22_20702691_20863811 | 20817734 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00741.hp1 others(47): Show |
a0001a0009a0012others(2): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0160 a0001c0001t0001g0163 a0001c0001t0001g0165 others(46): Show |
50 | 334 | 0.1497 | -7 | c.856 others(22): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 7/54 | chr22 | TogoVar | |||||||
PI4KA_chr22_20702691_20863811 | 20841462 | CAACTAAA | C | intron_variant | MODIFIER | HG01261.hp1 HG02145.hp1 HG02897.hp2 others(8): Show |
a0002a0003 | a0002c0009a0002c0021a0003c0008 | a0002c0009t0001a0002c0021t0001a0003c0008t0001 | a0002c0009t0001g0017 a0002c0009t0001g0018 a0002c0009t0001g0019 others(8): Show |
11 | 334 | 0.0329 | -7 | c.157 others(24): Show |
PI4KA | ENSG00000241973.11 | transcript | ENST00000255882.11 | protein_coding | 1/54 | chr22 | TogoVar | |||||||
PIANP_chr12_6688791_6705815 | 6704360 | TGTTTTTG | T | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(6): Show |
31 | 338 | 0.0917 | -7 | c.-37 others(18): Show |
PIANP | ENSG00000139200.14 | transcript | ENST00000534837.6 | protein_coding | 3546 | chr12 | TogoVar | |||||||
PIANP_chr12_6688791_6705815 | 6704361 | GTTTTTGT | G | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01169.hp2 HG01884.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0003g0010 others(1): Show |
13 | 338 | 0.0385 | -7 | c.-37 others(18): Show |
PIANP | ENSG00000139200.14 | transcript | ENST00000534837.6 | protein_coding | 3547 | chr12 | TogoVar | |||||||
PIAS1_chr15_68049315_68198847 | 68065915 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG02145.hp2 HG02258.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0030a0001c0001t0034 | a0001c0001t0002g0004 a0001c0001t0002g0005 a0001c0001t0002g0101 others(3): Show |
6 | 260 | 0.0231 | -7 | c.24+ others(24): Show |
PIAS1 | ENSG00000033800.14 | transcript | ENST00000249636.11 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46803044 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01257.hp1 HG01943.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0132 a0001c0001t0001g0181 a0001c0001t0001g0212 others(6): Show |
9 | 322 | 0.0280 | -7 | c.*93 others(18): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 173 | chr18 | TogoVar | |||||||
PIAS2_chr18_46798218_46922507 | 46807374 | TATATATA | T | 3_prime_UTR_variant | MODIFIER | HG02818.hp1 HG03195.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0051a0001c0001t0052 | a0001c0001t0012g0003 a0001c0001t0012g0004 a0001c0001t0051g0015 others(1): Show |
4 | 322 | 0.0124 | -7 | c.*50 others(18): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 14/14 | 5052 | chr18 | TogoVar | ||||||
PIAS2_chr18_46798218_46922507 | 46820656 | AAGAAGTC | A | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG01361.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0036a0001c0001t0037a0001c0001t0038others(2): Show | a0001c0001t0036g0249 a0001c0001t0037g0247 a0001c0001t0038g0248 others(2): Show |
5 | 322 | 0.0155 | -7 | c.164 others(24): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 12/13 | chr18 | TogoVar | |||||||
PIAS2_chr18_46798218_46922507 | 46877481 | CACCCATT | C | intron_variant | MODIFIER | HG02572.hp1 HG02922.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0060a0001c0001t0061a0001c0001t0062others(3): Show | a0001c0001t0060g0234 a0001c0001t0061g0310 a0001c0001t0062g0308 others(3): Show |
6 | 322 | 0.0186 | -7 | c.499 others(26): Show |
PIAS2 | ENSG00000078043.16 | transcript | ENST00000585916.6 | protein_coding | 2/13 | chr18 | TogoVar | |||||||
PIAS4_chr19_4002736_4044386 | 4004670 | GGATCCCC | G | upstream_gene_variant | MODIFIER | NA18969.hp1 NA18969.hp2 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 a0001c0001t0001g0186 a0001c0001t0001g0192 |
3 | 334 | 0.0090 | -7 | c.-30 others(18): Show |
PIAS4 | ENSG00000105229.7 | transcript | ENST00000262971.3 | protein_coding | 3065 | chr19 | TogoVar | |||||||
PIBF1_chr13_72777133_73021461 | 72949300 | CTTTTTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG01256.hp1 HG02896.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0003 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0336 others(3): Show |
6 | 346 | 0.0173 | -7 | c.183 others(28): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PIBF1_chr13_72777133_73021461 | 72994110 | CTCAAAAA | C | intron_variant | MODIFIER | HG02257.hp1 HG02895.hp1 HG02922.hp2 others(2): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0002a0002c0005t0002 | a0002c0002t0002g0007 a0002c0005t0002g0034 a0002c0005t0002g0049 others(2): Show |
5 | 346 | 0.0145 | -7 | c.205 others(26): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 16/17 | chr13 | TogoVar | |||||||
PIBF1_chr13_72777133_73021461 | 73018370 | TTTGTTTG | T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(31): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0003others(3): Show | a0001c0001t0001g0103 a0001c0001t0001g0175 a0001c0001t0001g0176 others(31): Show |
34 | 346 | 0.0983 | -7 | c.*24 others(18): Show |
PIBF1 | ENSG00000083535.16 | transcript | ENST00000326291.11 | protein_coding | 1910 | chr13 | TogoVar | |||||||
PICALM_chr11_85952175_86074084 | 85963920 | CTTTTTTT | C | intron_variant | MODIFIER | HG02717.hp2 HG02723.hp2 HG02886.hp2 others(7): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0011 | a0001c0004t0001g0001 a0001c0004t0001g0002 a0001c0004t0001g0005 others(5): Show |
10 | 358 | 0.0279 | -7 | c.194 others(26): Show |
PICALM | ENSG00000073921.18 | transcript | ENST00000393346.8 | protein_coding | 19/19 | chr11 | TogoVar | |||||||
PICALM_chr11_85952175_86074084 | 85993581 | GGTGCACA | G | intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01069.hp2 others(19): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0281 a0001c0003t0001g0003 a0001c0003t0001g0011 others(18): Show |
22 | 358 | 0.0615 | -7 | c.125 others(26): Show |
PICALM | ENSG00000073921.18 | transcript | ENST00000393346.8 | protein_coding | 12/19 | chr11 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229054713 | TGTGTGTG | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00544.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0076 others(16): Show |
19 | 256 | 0.0742 | -7 | c.178 others(26): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 2/2 | chr2 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229184338 | TATATCCC | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0011 others(34): Show |
37 | 256 | 0.1445 | -7 | c.31- others(24): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
PID1_chr2_229018973_229276287 | 229184353 | TATCACAC | T | intron_variant | MODIFIER | HG01243.hp1 HG01361.hp1 HG01891.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0028 a0001c0001t0001g0082 others(12): Show |
15 | 256 | 0.0586 | -7 | c.31- others(24): Show |
PID1 | ENSG00000153823.19 | transcript | ENST00000392055.8 | protein_coding | 1/2 | chr2 | TogoVar | |||||||
PIERCE2_chr15_55403495_55423798 | 55421909 | ATAATAAT | A | downstream_gene_variant | MODIFIER | HG02080.hp1 HG04204.hp2 NA18989.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0055 a0002c0002t0001g0056 a0002c0002t0001g0057 |
3 | 416 | 0.0072 | -7 | c.*33 others(18): Show |
PIERCE2 | ENSG00000261652.3 | transcript | ENST00000569691.2 | protein_coding | 3112 | chr15 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88757316 | TGGCGGGG | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00558.hp1 others(28): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0005a0001c0100others(23): Show | a0001c0001t0001a0001c0005t0001a0001c0100t0001others(23): Show | a0001c0001t0001g0140 a0001c0001t0001g0143 a0001c0001t0001g0145 others(28): Show |
31 | 282 | 0.1099 | -7 | c.65- others(22): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 1/50 | chr16 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88768114 | GGGGCCCA | G | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG02055.hp1 others(24): Show |
a0003a0007a0009others(14): Show | a0003c0006a0007c0011a0007c0150others(17): Show | a0003c0006t0010a0007c0011t0003a0007c0150t0001others(17): Show | a0003c0006t0010g0002 a0007c0011t0003g0021 a0007c0011t0003g0023 others(24): Show |
27 | 282 | 0.0957 | -7 | c.64+ others(24): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 1/50 | chr16 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10678933 | CTTTTTTT | C | intron_variant | MODIFIER | HG01175.hp1 HG01192.hp1 HG01517.hp1 others(2): Show |
a0002a0003a0005others(1): Show | a0002c0071a0003c0009a0005c0022others(2): Show | a0002c0071t0002a0003c0009t0002a0005c0022t0002others(2): Show | a0002c0071t0002g0125 a0003c0009t0002g0131 a0005c0022t0002g0085 others(2): Show |
5 | 158 | 0.0317 | -7 | c.795 others(26): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 52/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10731175 | GATTATAT | G | intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01169.hp1 others(9): Show |
a0001a0002a0004others(3): Show | a0001c0028a0001c0087a0002c0018others(8): Show | a0001c0028t0001a0001c0087t0001a0002c0018t0002others(8): Show | a0001c0028t0001g0031 a0001c0087t0001g0033 a0002c0018t0002g0068 others(9): Show |
12 | 158 | 0.0760 | -7 | c.502 others(24): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 36/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 10925889 | GTGTTTTT | G | intron_variant | MODIFIER | HG02622.hp2 HG02717.hp2 HG03130.hp2 others(2): Show |
a0001a0002a0010others(1): Show | a0001c0082a0002c0018a0010c0010others(1): Show | a0001c0082t0002a0002c0018t0002a0010c0010t0002others(1): Show | a0001c0082t0002g0092 a0002c0018t0002g0068 a0010c0010t0002g0075 others(2): Show |
5 | 158 | 0.0317 | -7 | c.287 others(26): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 3/55 | chr18 | TogoVar | |||||||
PIEZO2_chr18_10665247_11154569 | 11109535 | GCGAAACC | G | intron_variant | MODIFIER | HG00609.hp1 HG02976.hp1 HG03041.hp1 others(3): Show |
a0002a0003a0005others(3): Show | a0002c0001a0003c0009a0005c0005others(3): Show | a0002c0001t0001a0003c0009t0001a0005c0005t0002others(3): Show | a0002c0001t0001g0158 a0003c0009t0001g0083 a0005c0005t0002g0080 others(3): Show |
6 | 158 | 0.0380 | -7 | c.64+ others(24): Show |
PIEZO2 | ENSG00000154864.14 | transcript | ENST00000674853.1 | protein_coding | 1/55 | chr18 | TogoVar | |||||||
PIGF_chr2_46575937_46622041 | 46578569 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01884.hp1 HG02056.hp2 others(7): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0080 a0001c0001t0001g0083 others(7): Show |
10 | 366 | 0.0273 | -7 | c.*29 others(18): Show |
PIGF | ENSG00000151665.13 | transcript | ENST00000281382.11 | protein_coding | 2367 | chr2 | TogoVar | |||||||
PIGF_chr2_46575937_46622041 | 46598529 | ATTTTTTT | A | intron_variant | MODIFIER | HG01175.hp1 HG01891.hp1 HG02109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0094 others(2): Show |
9 | 366 | 0.0246 | -7 | c.438 others(24): Show |
PIGF | ENSG00000151665.13 | transcript | ENST00000281382.11 | protein_coding | 4/5 | chr2 | TogoVar | |||||||
PIGG_chr4_494210_545200 | 541939 | AATAATAT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00621.hp2 others(88): Show |
a0002a0003a0004others(6): Show | a0002c0002a0002c0006a0002c0032others(8): Show | a0002c0002t0002a0002c0006t0002a0002c0032t0002others(9): Show | a0002c0002t0002g0017 a0002c0002t0002g0025 a0002c0002t0002g0028 others(80): Show |
91 | 362 | 0.2514 | -7 | c.*25 others(18): Show |
PIGG | ENSG00000174227.16 | transcript | ENST00000453061.7 | protein_coding | 1740 | chr4 | TogoVar | |||||||
PIGH_chr14_67584318_67605268 | 67604532 | CAAACAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(154): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0013 others(52): Show |
157 | 462 | 0.3398 | -7 | c.-43 others(18): Show |
PIGH | ENSG00000100564.9 | transcript | ENST00000216452.9 | protein_coding | 4265 | chr14 | TogoVar | |||||||
PIGL_chr17_16212210_16331411 | 16246672 | CTTTTTTT | C | intron_variant | MODIFIER | HG00621.hp1 HG01109.hp1 HG01167.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015 a0001c0001t0001g0016 a0001c0001t0001g0017 others(23): Show |
26 | 246 | 0.1057 | -7 | c.335 others(26): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PIGL_chr17_16212210_16331411 | 16325350 | AAAAAAAG | A | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 a0001c0001t0003g0007 a0001c0001t0003g0008 others(3): Show |
6 | 246 | 0.0244 | -7 | c.661 others(22): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PIGL_chr17_16212210_16331411 | 16328596 | AAAAATAT | A | downstream_gene_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0088 others(5): Show |
8 | 246 | 0.0325 | -7 | c.*26 others(18): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 2186 | chr17 | TogoVar | |||||||
PIGL_chr17_16212210_16331411 | 16328600 | ATATATAT | A | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02451.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0219 a0001c0001t0004g0085 a0001c0001t0004g0086 |
3 | 246 | 0.0122 | -7 | c.*27 others(18): Show |
PIGL | ENSG00000108474.17 | transcript | ENST00000225609.10 | protein_coding | 2190 | chr17 | TogoVar | |||||||
PIGN_chr18_62036164_62192056 | 62038308 | GTTTTTTT | G | downstream_gene_variant | MODIFIER | HG02165.hp2 HG03704.hp2 NA18944.hp2 others(12): Show |
a0001a0002a0008 | a0001c0008a0001c0021a0002c0002others(1): Show | a0001c0008t0032a0001c0008t0033a0001c0008t0058others(8): Show | a0001c0008t0032g0291 a0001c0008t0032g0293 a0001c0008t0032g0295 others(12): Show |
15 | 342 | 0.0439 | -7 | c.*75 others(18): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 2855 | chr18 | TogoVar | |||||||
PIGN_chr18_62036164_62192056 | 62062882 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00735.hp1 others(15): Show |
a0001 | a0001c0005 | a0001c0005t0010a0001c0005t0022a0001c0005t0029others(5): Show | a0001c0005t0010g0001 a0001c0005t0010g0117 a0001c0005t0010g0121 others(14): Show |
18 | 342 | 0.0526 | -7 | c.267 others(26): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 30/30 | chr18 | TogoVar | |||||||
PIGN_chr18_62036164_62192056 | 62096516 | CTTTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(34): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0196 a0001c0001t0002g0133 a0001c0001t0003g0212 others(33): Show |
37 | 342 | 0.1082 | -7 | c.207 others(24): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 22/30 | chr18 | TogoVar | |||||||
PIGN_chr18_62036164_62192056 | 62186041 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(71): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0225 a0001c0001t0001g0230 a0001c0001t0001g0231 others(71): Show |
74 | 342 | 0.2164 | -7 | c.-23 others(24): Show |
PIGN | ENSG00000197563.11 | transcript | ENST00000640252.2 | protein_coding | 1/30 | chr18 | TogoVar | |||||||
PIGT_chr20_45411141_45431241 | 45414674 | ATAAAAAT | A | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG02602.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0222 a0001c0001t0001g0244 a0001c0001t0001g0245 others(2): Show |
6 | 462 | 0.0130 | -7 | c.-14 others(18): Show |
PIGT | ENSG00000124155.19 | transcript | ENST00000279036.12 | protein_coding | 1466 | chr20 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34666687 | CTTTTTTT | C | intron_variant | MODIFIER | HG01167.hp1 HG02109.hp2 HG02145.hp2 others(21): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(21): Show |
24 | 320 | 0.0750 | -7 | c.131 others(24): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 1/11 | chr20 | TogoVar | |||||||
PIGU_chr20_34555542_34682092 | 34668867 | CTTTTTTT | C | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG00741.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0009 a0001c0001t0001g0016 a0001c0001t0001g0019 others(27): Show |
30 | 320 | 0.0938 | -7 | c.130 others(24): Show |
PIGU | ENSG00000101464.11 | transcript | ENST00000217446.8 | protein_coding | 1/11 | chr20 | TogoVar | |||||||
PIGX_chr3_196707377_196741007 | 196731026 | AGTGGCAG | A | frameshift_variant | HIGH | NA18940.hp2 | a0002 | a0002c0009 | a0002c0009t0009 | a0002c0009t0009g0107 | 1 | 416 | 0.0024 | -7 | c.568 others(14): Show |
p.Val others(5): Show |
PIGX | ENSG00000163964.18 | transcript | ENST00000392391.9 | protein_coding | 5/6 | 724/3038 | 568/777 | 190/258 | chr3 | TogoVar | |||
PIGX_chr3_196707377_196741007 | 196735294 | CAAAAAAA | C | 3_prime_UTR_variant | MODIFIER | HG01934.hp2 HG02630.hp2 HG02809.hp2 others(5): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0013others(1): Show | a0001c0001t0019a0001c0001t0024a0001c0005t0019others(2): Show | a0001c0001t0019g0299 a0001c0001t0024g0047 a0001c0005t0019g0071 others(4): Show |
8 | 416 | 0.0192 | -7 | c.*14 others(18): Show |
PIGX | ENSG00000163964.18 | transcript | ENST00000392391.9 | protein_coding | 6/6 | 1416 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PIK3AP1_chr10_96588315_96725514 | 96604344 | ATTTTTTT | A | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00642.hp1 others(34): Show |
a0001a0002a0003others(7): Show | a0001c0006a0002c0002a0002c0005others(11): Show | a0001c0006t0002a0001c0006t0006a0002c0002t0001others(14): Show | a0001c0006t0002g0049 a0001c0006t0002g0054 a0001c0006t0002g0058 others(34): Show |
37 | 256 | 0.1445 | -7 | c.217 others(24): Show |
PIK3AP1 | ENSG00000155629.15 | transcript | ENST00000339364.10 | protein_coding | 14/16 | chr10 | TogoVar | |||||||
PIK3AP1_chr10_96588315_96725514 | 96663627 | CAAAAAAA | C | intron_variant | MODIFIER | HG01258.hp1 HG02083.hp2 HG02630.hp2 others(5): Show |
a0001a0007 | a0001c0001a0001c0009a0001c0014others(3): Show | a0001c0001t0001a0001c0009t0004a0001c0014t0004others(3): Show | a0001c0001t0001g0133 a0001c0001t0001g0134 a0001c0001t0001g0135 others(5): Show |
8 | 256 | 0.0313 | -7 | c.431 others(24): Show |
PIK3AP1 | ENSG00000155629.15 | transcript | ENST00000339364.10 | protein_coding | 2/16 | chr10 | TogoVar | |||||||
PIK3CA_chr3_179143357_179245093 | 179167077 | GTTATATC | G | intron_variant | MODIFIER | HG01081.hp1 HG01106.hp1 |
a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0050 a0003c0005t0005g0051 |
2 | 282 | 0.0071 | -7 | c.-77 others(26): Show |
PIK3CA | ENSG00000121879.6 | transcript | ENST00000263967.4 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PIK3CA_chr3_179143357_179245093 | 179205020 | CAAAAAAA | C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01069.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0169 a0001c0001t0002g0007 a0001c0001t0002g0008 others(34): Show |
40 | 282 | 0.1418 | -7 | c.114 others(24): Show |
PIK3CA | ENSG00000121879.6 | transcript | ENST00000263967.4 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PIK3CA_chr3_179143357_179245093 | 179221696 | CTTTTTTT | C | intron_variant | MODIFIER | HG02486.hp2 HG02818.hp2 HG03704.hp2 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0210 a0001c0003t0006g0211 a0001c0003t0006g0212 others(5): Show |
8 | 282 | 0.0284 | -7 | c.218 others(24): Show |
PIK3CA | ENSG00000121879.6 | transcript | ENST00000263967.4 | protein_coding | 14/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PIK3CB_chr3_138647698_138839928 | 138693959 | ATATATAT | A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0185 a0001c0001t0004g0034 a0001c0001t0004g0037 |
3 | 206 | 0.0146 | -7 | c.189 others(24): Show |
PIK3CB | ENSG00000051382.9 | transcript | ENST00000674063.1 | protein_coding | 14/23 | chr3 | TogoVar | |||||||
PIK3CB_chr3_138647698_138839928 | 138710023 | CAAAAAAA | C | intron_variant | MODIFIER | HG01123.hp2 HG01243.hp2 HG01891.hp2 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0010 | a0001c0002t0003g0047 a0001c0002t0003g0049 a0001c0002t0003g0050 others(12): Show |
15 | 206 | 0.0728 | -7 | c.139 others(26): Show |
PIK3CB | ENSG00000051382.9 | transcript | ENST00000674063.1 | protein_coding | 10/23 | chr3 | TogoVar |