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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLXNA4_chr7_132118340_132581470 | 132561369 | GTCCTCCT others(23): Show |
G | intron_variant | MODIFIER | HG02922.hp1 HG03540.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0006t0007 | a0001c0001t0003g0087 a0001c0006t0007g0085 |
2 | 84 | 0.0238 | -30 | c.-87 others(49): Show |
PLXNA4 | ENSG00000221866.10 | transcript | ENST00000321063.9 | protein_coding | 1/31 | chr7 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50305357 | CCCCGATG others(23): Show |
C | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0038 | a0001c0038t0002 | a0001c0038t0002g0136 | 1 | 300 | 0.0033 | -30 | c.-74 others(47): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 1/36 | chr22 | TogoVar | |||||||
PMS2_chr7_5965925_6014049 | 6013671 | ACGTGTGG others(23): Show |
A | upstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 406 | 0.0025 | -30 | c.-46 others(41): Show |
PMS2 | ENSG00000122512.17 | transcript | ENST00000265849.12 | protein_coding | 4623 | chr7 | TogoVar | |||||||
PNCK_chrX_153664733_153678813 | 153677669 | ATATAGTG others(23): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0030 a0001c0001t0001g0048 a0001c0001t0001g0050 others(1): Show |
4 | 274 | 0.0146 | -30 | c.-39 others(41): Show |
PNCK | ENSG00000130822.16 | transcript | ENST00000340888.8 | protein_coding | 3857 | chrX | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137516978 | TCACTCAC others(23): Show |
T | intron_variant | MODIFIER | HG02040.hp1 HG02074.hp1 HG02083.hp2 others(6): Show |
a0001a0002a0022others(1): Show | a0001c0002a0002c0003a0002c0004others(3): Show | a0001c0002t0001a0002c0003t0001a0002c0004t0001others(3): Show | a0001c0002t0001g0111 a0002c0003t0001g0005 a0002c0003t0001g0017 others(6): Show |
9 | 186 | 0.0484 | -30 | c.108 others(49): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 11/34 | chr9 | TogoVar | |||||||
POC1A_chr3_52070226_52159423 | 52154795 | GAGATTGC others(23): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00558.hp1 HG01069.hp2 others(65): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0051 a0001c0001t0002g0008 a0001c0001t0002g0016 others(59): Show |
68 | 284 | 0.2394 | -30 | c.-45 others(39): Show |
POC1A | ENSG00000164087.8 | transcript | ENST00000296484.7 | protein_coding | 373 | chr3 | TogoVar | |||||||
POLA1_chrX_24688918_25001986 | 24806053 | GTTTTTTT others(23): Show |
G | intron_variant | MODIFIER | HG02809.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
2 | 6 | 0.3333 | -30 | c.296 others(49): Show |
POLA1 | ENSG00000101868.13 | transcript | ENST00000379068.8 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
POLD4_chr11_67345772_67358546 | 67347629 | AAAAAATA others(23): Show |
A | downstream_gene_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 297 | 0.0034 | -30 | c.*43 others(41): Show |
POLD4 | ENSG00000175482.9 | transcript | ENST00000312419.8 | protein_coding | 3142 | chr11 | TogoVar | |||||||
POLR2G_chr11_62756580_62771710 | 62757073 | CATATATA others(23): Show |
C | upstream_gene_variant | MODIFIER | HG02074.hp2 HG02965.hp1 NA18942.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0002 a0001c0001t0003g0058 |
5 | 34 | 0.1471 | -30 | c.-45 others(41): Show |
POLR2G | ENSG00000168002.12 | transcript | ENST00000301788.12 | protein_coding | 4506 | chr11 | TogoVar | |||||||
POLR3F_chr20_18462390_18489646 | 18486179 | AATATATA others(23): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00597.hp1 HG00597.hp2 others(52): Show |
a0001a0004 | a0001c0002a0004c0007 | a0001c0002t0002a0004c0007t0002 | a0001c0002t0002g0006 a0001c0002t0002g0007 a0001c0002t0002g0008 others(13): Show |
55 | 231 | 0.2381 | -30 | c.*26 others(41): Show |
POLR3F | ENSG00000132664.13 | transcript | ENST00000377603.5 | protein_coding | 1534 | chr20 | TogoVar | |||||||
POLRMT_chr19_612221_638537 | 613572 | CGGGGCCG others(23): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(67): Show |
a0002a0003a0004others(9): Show | a0002c0003a0002c0022a0002c0025others(16): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(21): Show | a0002c0003t0001g0033 a0002c0003t0001g0106 a0002c0003t0001g0108 others(65): Show |
70 | 418 | 0.1675 | -30 | c.*36 others(41): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 3648 | chr19 | TogoVar | |||||||
POLRMT_chr19_612221_638537 | 613638 | CGGGGATG others(23): Show |
C | downstream_gene_variant | MODIFIER | HG01952.hp1 HG03579.hp2 NA19055.hp1 |
a0003a0028 | a0003c0002a0028c0033 | a0003c0002t0002a0003c0002t0004a0028c0033t0002 | a0003c0002t0002g0261 a0003c0002t0004g0007 a0028c0033t0002g0165 |
3 | 371 | 0.0081 | -30 | c.*36 others(41): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 3582 | chr19 | TogoVar | |||||||
POLRMT_chr19_612221_638537 | 624076 | AGCCCAAC others(23): Show |
A | intron_variant | MODIFIER | HG02165.hp1 | a0003 | a0003c0002 | a0003c0002t0004 | a0003c0002t0004g0143 | 1 | 420 | 0.0024 | -30 | c.114 others(47): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 5/20 | chr19 | TogoVar | |||||||
POP1_chr8_98112293_98164835 | 98161628 | TTCCCCTC others(23): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(106): Show |
a0001a0002a0014others(1): Show | a0001c0001a0001c0003a0001c0008others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(10): Show | a0001c0001t0002g0002 a0001c0001t0002g0004 a0001c0001t0002g0013 others(84): Show |
109 | 198 | 0.5505 | -30 | c.*33 others(41): Show |
POP1 | ENSG00000104356.11 | transcript | ENST00000401707.7 | protein_coding | 1794 | chr8 | TogoVar | |||||||
POP5_chr12_120573764_120586402 | 120581256 | ACCTGCGG others(23): Show |
A | frameshift_variant others(3): Show |
HIGH | NA18940.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0019 | 1 | 390 | 0.0026 | -30 | c.21- others(38): Show |
p.Arg others(3): Show |
POP5 | ENSG00000167272.11 | transcript | ENST00000357500.5 | protein_coding | 2/5 | 61/1086 | 21/492 | 7/163 | chr12 | TogoVar | |||
POSTN_chr13_37557585_37603768 | 37564181 | CATATATA others(23): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02572.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0091 a0001c0001t0001g0094 a0001c0001t0001g0095 others(6): Show |
12 | 192 | 0.0625 | -30 | c.247 others(47): Show |
POSTN | ENSG00000133110.15 | transcript | ENST00000379747.9 | protein_coding | 22/22 | chr13 | TogoVar | |||||||
POTEB3_chr15_21400401_21445499 | 21413528 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 52 | 0.0192 | -30 | c.141 others(49): Show |
POTEB3 | ENSG00000278522.5 | transcript | ENST00000611217.5 | protein_coding | 9/10 | chr15 | TogoVar | |||||||
POTEB_chr15_21841329_21882735 | 21850827 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG03017.hp2 |
a0003 | a0003c0005a0003c0012 | a0003c0005t0006a0003c0012t0002 | a0003c0005t0006g0023 a0003c0012t0002g0049 |
2 | 7 | 0.2857 | -30 | c.129 others(49): Show |
POTEB | ENSG00000233917.9 | transcript | ENST00000439682.2 | protein_coding | 9/10 | chr15 | TogoVar | |||||||
POTED_chr21_13604777_13650823 | 13609726 | TCACGCGC others(23): Show |
T | upstream_gene_variant | MODIFIER | NA19079.hp2 | a0007 | a0007c0007 | a0007c0007t0010 | a0007c0007t0010g0137 | 1 | 414 | 0.0024 | -30 | c.-50 others(39): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 50 | chr21 | TogoVar | |||||||
POU2AF2_chr11_111240725_111291401 | 111264544 | GAAAGAAA others(23): Show |
G | intron_variant | MODIFIER | HG02572.hp1 HG02886.hp1 HG02976.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0220 a0002c0002t0001g0018 a0002c0002t0001g0098 |
3 | 378 | 0.0079 | -30 | c.120 others(47): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU2AF2_chr11_111240725_111291401 | 111264547 | AGAAAGAA others(23): Show |
A | intron_variant | MODIFIER | HG01993.hp2 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 2 | 378 | 0.0053 | -30 | c.120 others(47): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU2F1_chr1_167215886_167432340 | 167343632 | ATTTTTTT others(23): Show |
A | intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0031 | 1 | 123 | 0.0081 | -30 | c.127 others(49): Show |
POU2F1 | ENSG00000143190.23 | transcript | ENST00000367866.7 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
POU5F1_chr6_31159337_31175682 | 31161089 | GAGTGCAG others(23): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(97): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0010 | a0001c0001t0002a0001c0003t0002a0003c0010t0002 | a0001c0001t0002g0054 a0001c0003t0002g0001 a0001c0003t0002g0028 others(5): Show |
100 | 444 | 0.2252 | -30 | c.*34 others(41): Show |
POU5F1 | ENSG00000204531.21 | transcript | ENST00000259915.13 | protein_coding | 3247 | chr6 | TogoVar | |||||||
POU6F2_chr7_38972909_39473601 | 39419085 | GTATATGT others(23): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00673.hp1 others(53): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(19): Show | a0001c0001t0002g0037 a0001c0001t0002g0119 a0001c0001t0002g0139 others(53): Show |
56 | 166 | 0.3373 | -30 | c.111 others(51): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39454655 | GATATATA others(23): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp2 HG02071.hp1 others(5): Show |
a0001a0002 | a0001c0002a0001c0007a0002c0006 | a0001c0002t0001a0001c0007t0001a0001c0007t0003others(1): Show | a0001c0002t0001g0050 a0001c0002t0001g0102 a0001c0002t0001g0159 others(5): Show |
8 | 14 | 0.5714 | -30 | c.148 others(49): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PPARA_chr22_46145526_46248755 | 46146416 | AAAGAGAA others(23): Show |
A | upstream_gene_variant | MODIFIER | HG01975.hp1 HG02293.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0012a0001c0007t0063 | a0001c0001t0012g0034 a0001c0007t0063g0032 |
2 | 91 | 0.0220 | -30 | c.-44 others(41): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4109 | chr22 | TogoVar | |||||||
PPARA_chr22_46145526_46248755 | 46205534 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG04184.hp2 | a0003 | a0003c0003 | a0003c0003t0008 | a0003c0003t0008g0031 | 1 | 198 | 0.0051 | -30 | c.208 others(47): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPARGC1A_chr4_23787021_23895047 | 23859780 | CAAAATAA others(23): Show |
C | intron_variant | MODIFIER | HG03041.hp2 HG03453.hp2 HG03486.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0013a0002c0002others(1): Show | a0001c0001t0015a0001c0001t0054a0001c0001t0063others(4): Show | a0001c0001t0015g0144 a0001c0001t0054g0242 a0001c0001t0063g0334 others(5): Show |
8 | 19 | 0.4211 | -30 | c.234 others(49): Show |
PPARGC1A | ENSG00000109819.9 | transcript | ENST00000264867.7 | protein_coding | 2/12 | chr4 | TogoVar | |||||||
PPBP_chr4_73981439_73993190 | 73982164 | CAAAAAAA others(23): Show |
C | downstream_gene_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 26 | 0.0385 | -30 | c.*50 others(41): Show |
PPBP | ENSG00000163736.4 | transcript | ENST00000296028.4 | protein_coding | 4274 | chr4 | TogoVar | |||||||
PPFIA2_chr12_81252975_81764350 | 81415206 | AAAAAATA others(23): Show |
A | intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 142 | 0.0070 | -30 | c.646 others(47): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 7/32 | chr12 | TogoVar | |||||||
PPFIA4_chr1_203021491_203083736 | 203053531 | TCAAAAAA others(23): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00621.hp1 others(61): Show |
a0001 | a0001c0004a0001c0005a0001c0006others(1): Show | a0001c0004t0003a0001c0005t0003a0001c0006t0001others(3): Show | a0001c0004t0003g0013 a0001c0004t0003g0016 a0001c0004t0003g0075 others(56): Show |
64 | 416 | 0.1538 | -30 | c.162 others(47): Show |
PPFIA4 | ENSG00000143847.16 | transcript | ENST00000295706.9 | protein_coding | 14/29 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PPFIBP2_chr11_7508999_7658756 | 7562929 | TTATATAT others(23): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02572.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0004a0001c0001t0009a0001c0002t0010others(3): Show | a0001c0001t0004g0186 a0001c0001t0009g0037 a0001c0002t0010g0043 others(3): Show |
6 | 46 | 0.1304 | -30 | c.65- others(45): Show |
PPFIBP2 | ENSG00000166387.14 | transcript | ENST00000299492.9 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PPIAL4G_chr1_148477548_148488302 | 148483584 | TTTCTTTC others(23): Show |
T | upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 448 | 0.0022 | -30 | c.-36 others(39): Show |
PPIAL4G | ENSG00000236334.3 | transcript | ENST00000419275.3 | protein_coding | 283 | chr1 | TogoVar | |||||||
PPM1E_chr17_58750854_58990179 | 58816766 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp1 HG01071.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 a0001c0001t0002g0229 a0001c0001t0002g0231 others(1): Show |
4 | 281 | 0.0142 | -30 | c.464 others(49): Show |
PPM1E | ENSG00000175175.6 | transcript | ENST00000308249.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PPM1E_chr17_58750854_58990179 | 58816768 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01074.hp1 HG01081.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 a0001c0001t0002g0219 a0001c0001t0002g0220 others(7): Show |
10 | 306 | 0.0327 | -30 | c.464 others(49): Show |
PPM1E | ENSG00000175175.6 | transcript | ENST00000308249.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
PPM1J_chr1_112704998_112720332 | 112706454 | CACACACA others(23): Show |
C | downstream_gene_variant | MODIFIER | HG02630.hp2 HG02647.hp2 HG03540.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 others(1): Show |
4 | 224 | 0.0179 | -30 | c.*36 others(41): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3543 | chr1 | TogoVar | |||||||
PPM1J_chr1_112704998_112720332 | 112706458 | CACACACC others(23): Show |
C | downstream_gene_variant | MODIFIER | HG02818.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016 a0001c0001t0002g0068 |
2 | 416 | 0.0048 | -30 | c.*36 others(41): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3539 | chr1 | TogoVar | |||||||
PPM1J_chr1_112704998_112720332 | 112706462 | CACCACAC others(23): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG02155.hp2 others(6): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0007c0007t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0007c0007t0001g0033 |
9 | 360 | 0.0250 | -30 | c.*36 others(41): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3535 | chr1 | TogoVar | |||||||
PPM1J_chr1_112704998_112720332 | 112706464 | CCACACAC others(23): Show |
C | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01106.hp2 HG01175.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0023 a0001c0001t0001g0027 others(1): Show |
4 | 349 | 0.0115 | -30 | c.*36 others(41): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3533 | chr1 | TogoVar | |||||||
PPM1L_chr3_160751231_161083902 | 160814575 | ATATATAT others(23): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02056.hp1 HG02109.hp2 others(21): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0130 a0001c0001t0003g0003 others(21): Show |
24 | 206 | 0.1165 | -30 | c.399 others(49): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PPP1R12A_chr12_79768568_79940097 | 79843611 | AATATAGA others(23): Show |
A | intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0020 | 1 | 69 | 0.0145 | -30 | c.487 others(47): Show |
PPP1R12A | ENSG00000058272.19 | transcript | ENST00000450142.7 | protein_coding | 3/24 | chr12 | TogoVar | |||||||
PPP1R12A_chr12_79768568_79940097 | 79899233 | AATATATA others(23): Show |
A | intron_variant | MODIFIER | HG01074.hp2 NA18906.hp2 NA19043.hp2 others(1): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0007 | a0001c0001t0003a0001c0002t0009a0005c0007t0009 | a0001c0001t0003g0189 a0001c0002t0009g0092 a0001c0002t0009g0093 others(1): Show |
4 | 15 | 0.2667 | -30 | c.238 others(49): Show |
PPP1R12A | ENSG00000058272.19 | transcript | ENST00000450142.7 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
PPP1R12B_chr1_202343699_202597702 | 202391570 | TTGAAGAT others(23): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG01074.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0168 a0001c0001t0001g0175 a0001c0001t0001g0197 others(15): Show |
18 | 29 | 0.6207 | -30 | c.292 others(49): Show |
PPP1R12B | ENSG00000077157.23 | transcript | ENST00000608999.6 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PPP1R12C_chr19_55085918_55122637 | 55097369 | TCACCGTC others(23): Show |
T | intron_variant | MODIFIER | HG01258.hp1 HG01361.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 2 | 340 | 0.0059 | -30 | c.952 others(47): Show |
PPP1R12C | ENSG00000125503.13 | transcript | ENST00000263433.8 | protein_coding | 6/21 | chr19 | TogoVar | |||||||
PPP1R12C_chr19_55085918_55122637 | 55097639 | ACCCCTTC others(23): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00733.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0034 a0001c0001t0001g0166 a0001c0001t0001g0226 others(18): Show |
37 | 388 | 0.0954 | -30 | c.951 others(47): Show |
PPP1R12C | ENSG00000125503.13 | transcript | ENST00000263433.8 | protein_coding | 6/21 | chr19 | TogoVar | |||||||
PPP1R14A_chr19_38246237_38261374 | 38259631 | ATATATAT others(23): Show |
A | upstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 415 | 0.0024 | -30 | c.-33 others(41): Show |
PPP1R14A | ENSG00000167641.11 | transcript | ENST00000301242.9 | protein_coding | 3258 | chr19 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150138310 | CACAGTAA others(23): Show |
C | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 a0001c0001t0002g0015 |
2 | 310 | 0.0065 | -30 | c.-48 others(41): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 4733 | chr6 | TogoVar | |||||||
PPP1R16A_chr8_144472982_144507121 | 144504468 | TATGGCCC others(23): Show |
T | downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0154 | 1 | 354 | 0.0028 | -30 | c.*25 others(41): Show |
PPP1R16A | ENSG00000160972.10 | transcript | ENST00000435887.2 | protein_coding | 2348 | chr8 | TogoVar | |||||||
PPP1R21_chr2_48435766_48520386 | 48469319 | ACATATAT others(23): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(286): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0013others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0117 others(286): Show |
289 | 370 | 0.7811 | -30 | c.898 others(47): Show |
PPP1R21 | ENSG00000162869.16 | transcript | ENST00000294952.13 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PPP1R21_chr2_48435766_48520386 | 48469377 | TAGCATAT others(23): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG00642.hp2 others(19): Show |
a0001a0007 | a0001c0001a0001c0004a0007c0011 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0001g0109 a0001c0001t0001g0290 a0001c0001t0001g0291 others(19): Show |
22 | 354 | 0.0621 | -30 | c.898 others(47): Show |
PPP1R21 | ENSG00000162869.16 | transcript | ENST00000294952.13 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |