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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PM20D1_chr1_205823025_205855132 | 205853436 | A | AATATATA others(33): Show |
upstream_gene_variant | MODIFIER | NA18973.hp1 NA18982.hp1 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0173a0002c0001t0002g0177 | 2 | 416 | 0.0048 | 40 | c.-33 others(51): Show |
PM20D1 | ENSG00000162877.13 | transcript | ENST00000367136.5 | protein_coding | 3305 | chr1 | TogoVar | ||||||
PM20D1_chr1_205823025_205855132 | 205853447 | A | ATATATAT others(33): Show |
upstream_gene_variant | MODIFIER | HG02895.hp1 | a0009 | a0009c0018 | a0009c0018t0001 | a0009c0018t0001g0111 | 1 | 416 | 0.0024 | 40 | c.-33 others(51): Show |
PM20D1 | ENSG00000162877.13 | transcript | ENST00000367136.5 | protein_coding | 3316 | chr1 | TogoVar | ||||||
PMM1_chr22_41571900_41594840 | 41594335 | G | GGGTGGGG others(33): Show |
upstream_gene_variant | MODIFIER | HG00544.hp1 HG01517.hp1 HG02965.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(6): Show | 12 | 330 | 0.0364 | 40 | c.-45 others(51): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4496 | chr22 | TogoVar | ||||||
PMM1_chr22_41571900_41594840 | 41594335 | G | GGGTGGGG others(33): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 330 | 0.0030 | 40 | c.-45 others(51): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4496 | chr22 | TogoVar | ||||||
PMM1_chr22_41571900_41594840 | 41594338 | T | TGGGGGGG others(33): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02818.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0079a0001c0001t0001g0087 | 3 | 330 | 0.0091 | 40 | c.-45 others(51): Show |
PMM1 | ENSG00000100417.12 | transcript | ENST00000216259.8 | protein_coding | 4499 | chr22 | TogoVar | ||||||
PMS1_chr2_189779450_189882629 | 189864657 | G | GAAAAAAA others(33): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 234 | 0.0043 | 40 | c.234 others(57): Show |
PMS1 | ENSG00000064933.19 | transcript | ENST00000441310.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AAAATATA others(33): Show |
upstream_gene_variant | MODIFIER | HG03492.hp1 HG03688.hp2 |
a0002a0003 | a0002c0001a0003c0004 | a0002c0001t0001a0003c0004t0044 | a0002c0001t0001g0327a0003c0004t0044g0383 | 2 | 408 | 0.0049 | 40 | c.-95 others(49): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | ||||||
PMS2_chr7_5965925_6014049 | 6009974 | A | AATATACA others(33): Show |
upstream_gene_variant | MODIFIER | HG02523.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0347 | 1 | 408 | 0.0025 | 40 | c.-95 others(49): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 926 | chr7 | TogoVar | ||||||
PNKD_chr2_218265519_218351793 | 218315057 | T | TCTTTCTT others(33): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0184 | 1 | 280 | 0.0036 | 40 | c.237 others(59): Show |
PNKD | ENSG00000127838.15 | transcript | ENST00000273077.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PNKD_chr2_218265519_218351793 | 218315057 | T | TCTTTCTT others(33): Show |
intron_variant | MODIFIER | HG01496.hp1 NA19012.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0174a0001c0001t0006g0244 | 2 | 280 | 0.0071 | 40 | c.237 others(59): Show |
PNKD | ENSG00000127838.15 | transcript | ENST00000273077.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PNKD_chr2_218265519_218351793 | 218315120 | C | CCTTTCTT others(33): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0279 | 1 | 280 | 0.0036 | 40 | c.237 others(59): Show |
PNKD | ENSG00000127838.15 | transcript | ENST00000273077.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PNLIPRP1_chr10_116585959_116614175 | 116599256 | G | GAAAATAA others(33): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0124 | 1 | 420 | 0.0024 | 40 | c.815 others(55): Show |
PNLIPRP1 | ENSG00000187021.15 | transcript | ENST00000358834.9 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
PNMA8A_chr19_46461503_46476563 | 46473260 | G | GTTTTTTG others(33): Show |
upstream_gene_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 1 | 454 | 0.0022 | 40 | c.-20 others(51): Show |
PNMA8A | ENSG00000182013.18 | transcript | ENST00000313683.15 | protein_coding | 1698 | chr19 | TogoVar | ||||||
PNOC_chr8_28312268_28348351 | 28330362 | C | CTTTATTT others(33): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0200 | 1 | 424 | 0.0024 | 40 | c.126 others(57): Show |
PNOC | ENSG00000168081.9 | transcript | ENST00000301908.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PNPLA1_chr6_36265060_36318955 | 36300178 | T | TGTGTGTG others(33): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 386 | 0.0026 | 40 | c.776 others(57): Show |
PNPLA1 | ENSG00000180316.13 | transcript | ENST00000636260.2 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
POC1B_chr12_89414718_89531047 | 89476759 | T | TAGATAGA others(33): Show |
intron_variant | MODIFIER | HG00673.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216a0001c0001t0001g0218 | 2 | 370 | 0.0054 | 40 | c.453 others(57): Show |
POC1B | ENSG00000139323.14 | transcript | ENST00000313546.8 | protein_coding | 4/11 | chr12 | TogoVar | ||||||
POC1B_chr12_89414718_89531047 | 89476759 | T | TAGATAGA others(33): Show |
intron_variant | MODIFIER | HG02809.hp1 NA18953.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215a0001c0001t0001g0221 | 2 | 370 | 0.0054 | 40 | c.453 others(57): Show |
POC1B | ENSG00000139323.14 | transcript | ENST00000313546.8 | protein_coding | 4/11 | chr12 | TogoVar | ||||||
POC1B_chr12_89414718_89531047 | 89503733 | G | GTCTGAGA others(33): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 370 | 0.0027 | 40 | c.101 others(57): Show |
POC1B | ENSG00000139323.14 | transcript | ENST00000313546.8 | protein_coding | 2/11 | chr12 | TogoVar | ||||||
POLA1_chrX_24688918_25001986 | 24921892 | T | TTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0015others(1): Show | 4 | 197 | 0.0203 | 40 | c.416 others(59): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 35/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
POLD2_chr7_44109680_44128548 | 44124819 | T | TATATTTT others(33): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0021others(7): Show | 60 | 418 | 0.1435 | 40 | c.-13 others(51): Show |
POLD2 | ENSG00000106628.13 | transcript | ENST00000610533.6 | protein_coding | 1272 | chr7 | TogoVar | ||||||
POLDIP2_chr17_28341633_28362527 | 28353520 | C | CAAAAAAA others(33): Show |
intron_variant | MODIFIER | HG01891.hp2 NA19012.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 2 | 340 | 0.0059 | 40 | c.438 others(55): Show |
POLDIP2 | ENSG00000004142.12 | transcript | ENST00000540200.6 | protein_coding | 4/10 | chr17 | TogoVar | ||||||
POLG_chr15_89311320_89339824 | 89325034 | C | CAGAGAGT others(33): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 398 | 0.0025 | 40 | c.194 others(57): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | ||||||
POLG_chr15_89311320_89339824 | 89325261 | A | AGAGTGAG others(33): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 | 1 | 398 | 0.0025 | 40 | c.194 others(57): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | ||||||
POLR3B_chr12_106352748_106515198 | 106479796 | C | CTTCTTTT others(33): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02698.hp1 HG02922.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0051a0001c0001t0001g0072a0001c0001t0001g0077others(2): Show | 5 | 304 | 0.0165 | 40 | c.271 others(61): Show |
POLR3B | ENSG00000013503.10 | transcript | ENST00000228347.9 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
POLRMT_chr19_612221_638537 | 626886 | T | TACACACA others(33): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0006 | a0006c0008 | a0006c0008t0003 | a0006c0008t0003g0334 | 1 | 422 | 0.0024 | 40 | c.823 others(57): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 3/20 | chr19 | TogoVar | ||||||
POTEM_chr14_18962434_19008752 | 18969357 | G | GTGTGTGT others(33): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0003 | a0003c0003 | a0003c0003t0020 | a0003c0003t0020g0036 | 1 | 67 | 0.0149 | 40 | c.521 others(57): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
POU2AF2_chr11_111240725_111291401 | 111268477 | T | TTTTTATT others(33): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0135 | 1 | 380 | 0.0026 | 40 | c.120 others(59): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
POU2F3_chr11_120235140_120324945 | 120307231 | C | CATGGAGG others(33): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 320 | 0.0031 | 40 | c.770 others(55): Show |
POU2F3 | ENSG00000137709.10 | transcript | ENST00000543440.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPA1_chr10_70197835_70238429 | 70206860 | A | AGGAGGGG others(33): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0260 | 1 | 408 | 0.0025 | 40 | c.726 others(55): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 8/10 | chr10 | TogoVar | ||||||
PPA1_chr10_70197835_70238429 | 70206865 | A | AGGAGGGG others(33): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0004 | a0001c0001t0001g0067a0001c0003t0004g0040a0001c0003t0004g0042others(2): Show | 5 | 408 | 0.0123 | 40 | c.726 others(55): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 8/10 | chr10 | TogoVar | ||||||
PPA1_chr10_70197835_70238429 | 70206874 | G | GGGGAGGG others(33): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02135.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0109others(5): Show | 8 | 408 | 0.0196 | 40 | c.726 others(55): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 8/10 | chr10 | TogoVar | ||||||
PPA2_chr4_105364077_105479062 | 105450601 | C | CTTTTTTT others(33): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0328 | 1 | 366 | 0.0027 | 40 | c.268 others(57): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
PPA2_chr4_105364077_105479062 | 105460856 | C | CATATATA others(33): Show |
intron_variant | MODIFIER | HG02602.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0217a0001c0001t0002g0089 | 2 | 366 | 0.0055 | 40 | c.158 others(57): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 1/11 | chr4 | TogoVar | ||||||
PPEF2_chr4_75854867_75907452 | 75877006 | A | AAAAGAAA others(33): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01081.hp1 others(26): Show |
a0001a0003a0012others(1): Show | a0001c0001a0001c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0021a0001c0001t0001g0051a0001c0001t0001g0070others(25): Show | 29 | 270 | 0.1074 | 40 | c.934 others(55): Show |
PPEF2 | ENSG00000156194.19 | transcript | ENST00000286719.12 | protein_coding | 10/16 | chr4 | TogoVar | ||||||
PPFIA1_chr11_70265690_70389396 | 70277060 | A | ATATTATA others(33): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0038 | 1 | 282 | 0.0036 | 40 | c.264 others(57): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPFIA1_chr11_70265690_70389396 | 70277060 | A | ATATTATA others(33): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0039 | 1 | 282 | 0.0036 | 40 | c.264 others(57): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PPHLN1_chr12_42321167_42447181 | 42350051 | A | AGGGCGGC others(33): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 376 | 0.0027 | 40 | c.73- others(55): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPHLN1_chr12_42321167_42447181 | 42350051 | A | AGGGCGGC others(33): Show |
intron_variant | MODIFIER | HG01975.hp2 HG01978.hp1 HG02129.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0148a0001c0001t0001g0238a0001c0001t0001g0239others(17): Show | 20 | 376 | 0.0532 | 40 | c.73- others(55): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PPL_chr16_4877507_4942148 | 4920345 | G | GAGAGAGA others(33): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03225.hp2 NA18522.hp1 |
a0002a0013a0050 | a0002c0016a0013c0019a0050c0036 | a0002c0016t0009a0013c0019t0006a0050c0036t0004 | a0002c0016t0009g0342a0013c0019t0006g0343a0050c0036t0004g0349 | 3 | 372 | 0.0081 | 40 | c.63- others(55): Show |
PPL | ENSG00000118898.16 | transcript | ENST00000345988.7 | protein_coding | 1/21 | chr16 | TogoVar | ||||||
PPL_chr16_4877507_4942148 | 4920345 | G | GAGAGAGA others(33): Show |
intron_variant | MODIFIER | NA18959.hp1 NA18959.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0165 | 2 | 372 | 0.0054 | 40 | c.63- others(55): Show |
PPL | ENSG00000118898.16 | transcript | ENST00000345988.7 | protein_coding | 1/21 | chr16 | TogoVar | ||||||
PPM1H_chr12_62638994_62940150 | 62658125 | G | GGGAGGCC others(33): Show |
intron_variant | MODIFIER | HG02897.hp1 HG03516.hp2 NA18906.hp1 |
a0001 | a0001c0002 | a0001c0002t0013a0001c0002t0020 | a0001c0002t0013g0122a0001c0002t0020g0016a0001c0002t0020g0019 | 3 | 252 | 0.0119 | 40 | c.139 others(59): Show |
PPM1H | ENSG00000111110.12 | transcript | ENST00000228705.7 | protein_coding | 9/9 | chr12 | TogoVar | ||||||
PPM1J_chr1_112704998_112720332 | 112706472 | A | ACCACACA others(33): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 422 | 0.0024 | 40 | c.*36 others(51): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3525 | chr1 | TogoVar | ||||||
PPM1L_chr3_160751231_161083902 | 160808383 | C | CTCTGTGT others(33): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0119 | 1 | 206 | 0.0049 | 40 | c.399 others(59): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPM1L_chr3_160751231_161083902 | 160808383 | C | CTCTGTGT others(33): Show |
intron_variant | MODIFIER | HG01261.hp2 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0018a0001c0001t0005g0013 | 2 | 206 | 0.0097 | 40 | c.399 others(59): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PPP1CB_chr2_28746830_28807940 | 28785065 | C | CTTTTTTT others(33): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0132 | 1 | 366 | 0.0027 | 40 | c.592 others(57): Show |
PPP1CB | ENSG00000213639.11 | transcript | ENST00000395366.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PPP1R12A_chr12_79768568_79940097 | 79845891 | C | CAAAAATT others(33): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(194): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0003c0008others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0127a0001c0001t0001g0130a0001c0001t0001g0188others(193): Show | 197 | 312 | 0.6314 | 40 | c.369 others(55): Show |
PPP1R12A | ENSG00000058272.19 | transcript | ENST00000450142.7 | protein_coding | 2/24 | chr12 | TogoVar | ||||||
PPP1R13B_chr14_103728195_103852575 | 103776186 | G | GAGGGAGG others(33): Show |
intron_variant | MODIFIER | HG02165.hp1 NA18939.hp1 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0281a0001c0001t0004g0284a0001c0001t0004g0286 | 3 | 332 | 0.0090 | 40 | c.354 others(57): Show |
PPP1R13B | ENSG00000088808.18 | transcript | ENST00000202556.14 | protein_coding | 4/16 | chr14 | TogoVar | ||||||
PPP1R16B_chr20_38800697_38928024 | 38855982 | A | AGAGAGAG others(33): Show |
intron_variant | MODIFIER | HG02897.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0177a0001c0001t0005g0201 | 2 | 244 | 0.0082 | 40 | c.250 others(59): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 2/10 | chr20 | TogoVar | ||||||
PPP1R3F_chrX_49264793_49293090 | 49291316 | C | CTCTCTCT others(33): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 HG02080.hp2 HG02083.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0116 | 5 | 288 | 0.0174 | 40 | c.*42 others(51): Show |
PPP1R3F | ENSG00000049769.14 | transcript | ENST00000055335.11 | protein_coding | 3227 | chrX | TogoVar | ||||||
PPP1R9A_chr7_94902594_95301400 | 95103362 | C | CTTTTTTT others(33): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0153 | 1 | 290 | 0.0035 | 40 | c.139 others(59): Show |
PPP1R9A | ENSG00000158528.12 | transcript | ENST00000433360.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |