| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PPFIA1_chr11_70265690_70389396 | 70279905 | A | ATGTGTGT others(23): Show |
intron_variant | MODIFIER | HG03225.hp2 NA18997.hp1 |
a0001 | a0001c0003a0001c0015 | a0001c0003t0003a0001c0015t0007 | a0001c0003t0003g0015a0001c0015t0007g0044 | 2 | 282 | 0.0071 | 30 | c.264 others(47): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PPFIA2_chr12_81252975_81764350 | 81462585 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 168 | 0.0060 | 30 | c.304 others(47): Show |
PPFIA2 | ENSG00000139220.17 | transcript | ENST00000549396.6 | protein_coding | 4/32 | chr12 | TogoVar | ||||||
| PPFIBP1_chr12_27519206_27700564 | 27644244 | G | GTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG00558.hp2 NA19078.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050a0001c0001t0001g0088 | 2 | 314 | 0.0064 | 30 | c.271 others(47): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 4/29 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PPFIBP1_chr12_27519206_27700564 | 27678856 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0256 | 1 | 314 | 0.0032 | 30 | c.161 others(47): Show |
PPFIBP1 | ENSG00000110841.14 | transcript | ENST00000228425.11 | protein_coding | 19/29 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PPFIBP2_chr11_7508999_7658756 | 7554785 | T | TGACTAGA others(23): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0197 | 1 | 318 | 0.0031 | 30 | c.64+ others(45): Show |
PPFIBP2 | ENSG00000166387.14 | transcript | ENST00000299492.9 | protein_coding | 2/23 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PPHLN1_chr12_42321167_42447181 | 42360110 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 376 | 0.0027 | 30 | c.299 others(47): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PPHLN1_chr12_42321167_42447181 | 42360458 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0207 | 1 | 376 | 0.0027 | 30 | c.299 others(47): Show |
PPHLN1 | ENSG00000134283.18 | transcript | ENST00000358314.12 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| PPIG_chr2_169579351_169646406 | 169606591 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02698.hp1 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0090a0001c0001t0005g0350 | 2 | 382 | 0.0052 | 30 | c.244 others(45): Show |
PPIG | ENSG00000138398.17 | transcript | ENST00000260970.8 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PPIL1_chr6_36849829_36879803 | 36859811 | T | TTGTGTGT others(23): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0054 | 1 | 410 | 0.0024 | 30 | c.212 others(47): Show |
PPIL1 | ENSG00000137168.8 | transcript | ENST00000373699.6 | protein_coding | 2/3 | chr6 | TogoVar | ||||||
| PPIL2_chr22_21661012_21702907 | 21664958 | A | AAAATACA others(23): Show |
upstream_gene_variant | MODIFIER | HG00738.hp2 HG01069.hp1 HG01071.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0003g0024a0001c0001t0003g0186a0001c0001t0003g0209others(25): Show | 29 | 378 | 0.0767 | 30 | c.-11 others(41): Show |
PPIL2 | ENSG00000100023.20 | transcript | ENST00000398831.8 | protein_coding | 1053 | chr22 | TogoVar | ||||||
| PPIP5K2_chr5_103115301_103217799 | 103117581 | T | TATATACA others(23): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01167.hp2 HG01169.hp1 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0010others(2): Show | a0001c0002t0002g0250a0001c0002t0002g0253a0001c0002t0002g0255others(16): Show | 19 | 284 | 0.0669 | 30 | c.-31 others(41): Show |
PPIP5K2 | ENSG00000145725.21 | transcript | ENST00000358359.8 | protein_coding | 2719 | chr5 | TogoVar | ||||||
| PPL_chr16_4877507_4942148 | 4920345 | G | GAGAGAAA others(23): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01978.hp2 HG02135.hp2 others(21): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0048a0002c0002others(8): Show | a0001c0001t0001a0001c0048t0001a0002c0002t0002others(9): Show | a0001c0001t0001g0047a0001c0001t0001g0051a0001c0001t0001g0077others(21): Show | 24 | 372 | 0.0645 | 30 | c.63- others(45): Show |
PPL | ENSG00000118898.16 | transcript | ENST00000345988.7 | protein_coding | 1/21 | chr16 | TogoVar | ||||||
| PPM1B_chr2_44163875_44236472 | 44167255 | A | AAAATACA others(23): Show |
upstream_gene_variant | MODIFIER | NA19062.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 358 | 0.0028 | 30 | c.-20 others(41): Show |
PPM1B | ENSG00000138032.21 | transcript | ENST00000282412.9 | protein_coding | 1619 | chr2 | TogoVar | ||||||
| PPM1B_chr2_44163875_44236472 | 44205354 | G | GGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02015.hp1 HG02451.hp1 others(9): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0004c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0016a0001c0001t0001g0121others(7): Show | 12 | 358 | 0.0335 | 30 | c.846 others(47): Show |
PPM1B | ENSG00000138032.21 | transcript | ENST00000282412.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PPM1D_chr17_60595193_60671280 | 60645500 | A | ATGTGTAT others(23): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0066a0001c0001t0004g0068 | 2 | 214 | 0.0094 | 30 | c.827 others(47): Show |
PPM1D | ENSG00000170836.13 | transcript | ENST00000305921.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PPM1E_chr17_58750854_58990179 | 58785458 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 NA18949.hp2 |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0003a0004c0004t0013 | a0001c0001t0003g0275a0004c0004t0013g0127a0004c0004t0013g0128 | 3 | 312 | 0.0096 | 30 | c.464 others(49): Show |
PPM1E | ENSG00000175175.6 | transcript | ENST00000308249.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| PPM1H_chr12_62638994_62940150 | 62692932 | G | GACACACA others(23): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0056 | a0001c0002t0056g0241 | 1 | 252 | 0.0040 | 30 | c.113 others(48): Show |
PPM1H | ENSG00000111110.12 | transcript | ENST00000228705.7 | protein_coding | 7/9 | chr12 | TogoVar | ||||||
| PPM1J_chr1_112704998_112720332 | 112706476 | A | ACACCACA others(23): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 422 | 0.0024 | 30 | c.*36 others(41): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3521 | chr1 | TogoVar | ||||||
| PPM1J_chr1_112704998_112720332 | 112706478 | A | ACACCACA others(23): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG03130.hp2 NA18942.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0003a0002c0002t0001g0008 | 4 | 422 | 0.0095 | 30 | c.*36 others(41): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3519 | chr1 | TogoVar | ||||||
| PPM1L_chr3_160751231_161083902 | 160808387 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02897.hp1 NA19043.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0010 | a0001c0001t0001g0007a0001c0001t0008g0008a0001c0001t0008g0101others(1): Show | 4 | 206 | 0.0194 | 30 | c.399 others(49): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PPM1L_chr3_160751231_161083902 | 160808388 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 206 | 0.0049 | 30 | c.399 others(49): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PPM1L_chr3_160751231_161083902 | 160808388 | T | TGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG02056.hp1 HG02735.hp2 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0016 | a0001c0001t0001g0130a0001c0001t0006g0115a0001c0001t0016g0114 | 3 | 206 | 0.0146 | 30 | c.399 others(49): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PPM1L_chr3_160751231_161083902 | 160906629 | A | AAGAAAAG others(23): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0057 | 1 | 206 | 0.0049 | 30 | c.400 others(49): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PPM1L_chr3_160751231_161083902 | 161058118 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 206 | 0.0049 | 30 | c.575 others(47): Show |
PPM1L | ENSG00000163590.14 | transcript | ENST00000498165.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| PPP1CB_chr2_28746830_28807940 | 28785065 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0143 | 1 | 366 | 0.0027 | 30 | c.592 others(47): Show |
PPP1CB | ENSG00000213639.11 | transcript | ENST00000395366.3 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| PPP1R12B_chr1_202343699_202597702 | 202381397 | G | GGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0063 | a0001c0001t0063g0159 | 1 | 254 | 0.0039 | 30 | c.291 others(49): Show |
PPP1R12B | ENSG00000077157.23 | transcript | ENST00000608999.6 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| PPP1R12B_chr1_202343699_202597702 | 202391570 | T | TTGAAGAT others(23): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0243 | 1 | 254 | 0.0039 | 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 | 55096850 | G | GCGCAGTT others(23): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0127 | 1 | 390 | 0.0026 | 30 | c.952 others(45): Show |
PPP1R12C | ENSG00000125503.13 | transcript | ENST00000263433.8 | protein_coding | 6/21 | chr19 | TogoVar | ||||||
| PPP1R12C_chr19_55085918_55122637 | 55097451 | G | GCGCAGTT others(23): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02615.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022a0001c0001t0001g0048a0001c0001t0001g0141others(7): Show | 13 | 390 | 0.0333 | 30 | c.952 others(47): Show |
PPP1R12C | ENSG00000125503.13 | transcript | ENST00000263433.8 | protein_coding | 6/21 | chr19 | TogoVar | ||||||
| PPP1R13L_chr19_45374638_45410069 | 45375534 | A | ATATTTTA others(23): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG01243.hp2 HG01934.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0108a0001c0001t0002g0129a0001c0001t0002g0186others(4): Show | 7 | 376 | 0.0186 | 30 | c.*46 others(41): Show |
PPP1R13L | ENSG00000104881.16 | transcript | ENST00000360957.10 | protein_coding | 4103 | chr19 | TogoVar | ||||||
| PPP1R14C_chr6_150138044_150255392 | 150222148 | A | AGATCACT others(23): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00733.hp1 HG01099.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(8): Show | a0001c0001t0003g0005a0001c0001t0003g0094a0001c0001t0006g0003others(24): Show | 27 | 312 | 0.0865 | 30 | c.423 others(47): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PPP1R14C_chr6_150138044_150255392 | 150236613 | C | CTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01099.hp2 HG02559.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0001g0040a0001c0001t0005g0148a0001c0001t0008g0176others(1): Show | 4 | 312 | 0.0128 | 30 | c.424 others(49): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| PPP1R14D_chr15_40810451_40833708 | 40823706 | G | GGTGTAGT others(23): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 388 | 0.0026 | 30 | c.255 others(47): Show |
PPP1R14D | ENSG00000166143.10 | transcript | ENST00000299174.10 | protein_coding | 1/3 | chr15 | TogoVar | ||||||
| PPP1R16B_chr20_38800697_38928024 | 38801531 | C | CTTTTTTT others(23): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG02083.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0107a0001c0002t0003g0115 | 2 | 244 | 0.0082 | 30 | c.-43 others(41): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 4165 | chr20 | TogoVar | ||||||
| PPP1R16B_chr20_38800697_38928024 | 38855982 | A | AGAGAGAA others(23): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02145.hp2 HG03225.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0002t0002others(1): Show | a0001c0001t0001g0130a0001c0001t0001g0148a0001c0001t0001g0170others(7): Show | 10 | 244 | 0.0410 | 30 | c.250 others(49): Show |
PPP1R16B | ENSG00000101445.10 | transcript | ENST00000299824.6 | protein_coding | 2/10 | chr20 | TogoVar | ||||||
| PPP1R2_chr3_195509428_195548325 | 195537481 | T | TTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01934.hp1 NA18972.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127a0001c0001t0001g0147 | 2 | 388 | 0.0052 | 30 | c.122 others(47): Show |
PPP1R2 | ENSG00000184203.8 | transcript | ENST00000618156.5 | protein_coding | 1/5 | chr3 | TogoVar | ||||||
| PPP1R2_chr3_195509428_195548325 | 195537481 | T | TTTTGTGT others(23): Show |
intron_variant | MODIFIER | HG01168.hp2 HG02165.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018 | a0001c0001t0003g0012a0001c0001t0003g0192a0001c0001t0018g0151others(1): Show | 6 | 388 | 0.0155 | 30 | c.122 others(47): Show |
PPP1R2 | ENSG00000184203.8 | transcript | ENST00000618156.5 | protein_coding | 1/5 | chr3 | TogoVar | ||||||
| PPP1R3F_chrX_49264793_49293090 | 49291316 | C | CTCTCTCT others(23): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 288 | 0.0035 | 30 | c.*42 others(41): Show |
PPP1R3F | ENSG00000049769.14 | transcript | ENST00000055335.11 | protein_coding | 3227 | chrX | TogoVar | ||||||
| PPP1R3F_chrX_49264793_49293090 | 49291316 | C | CTCTCTCT others(23): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG01070.hp1 HG01978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0101a0001c0001t0001g0109 | 3 | 288 | 0.0104 | 30 | c.*42 others(41): Show |
PPP1R3F | ENSG00000049769.14 | transcript | ENST00000055335.11 | protein_coding | 3227 | chrX | TogoVar | ||||||
| PPP1R9A_chr7_94902594_95301400 | 95070593 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03579.hp2 |
a0002 | a0002c0001 | a0002c0001t0011 | a0002c0001t0011g0224a0002c0001t0011g0228 | 2 | 290 | 0.0069 | 30 | c.139 others(51): Show |
PPP1R9A | ENSG00000158528.12 | transcript | ENST00000433360.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| PPP1R9A_chr7_94902594_95301400 | 95070594 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0002 | a0001c0002t0035 | a0001c0002t0035g0028 | 1 | 290 | 0.0035 | 30 | c.139 others(51): Show |
PPP1R9A | ENSG00000158528.12 | transcript | ENST00000433360.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| PPP1R9A_chr7_94902594_95301400 | 95070610 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01167.hp1 HG01169.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0001a0003c0003others(1): Show | a0001c0002t0005a0002c0001t0003a0002c0001t0012others(2): Show | a0001c0002t0005g0136a0002c0001t0003g0128a0002c0001t0012g0115others(3): Show | 6 | 290 | 0.0207 | 30 | c.139 others(51): Show |
PPP1R9A | ENSG00000158528.12 | transcript | ENST00000433360.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| PPP2R1A_chr19_52185052_52234518 | 52194088 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 384 | 0.0026 | 30 | c.78+ others(45): Show |
PPP2R1A | ENSG00000105568.19 | transcript | ENST00000322088.11 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| PPP2R2B_chr5_146575742_146883757 | 146812791 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0049 | 1 | 170 | 0.0059 | 30 | c.70+ others(47): Show |
PPP2R2B | ENSG00000156475.19 | transcript | ENST00000394411.9 | protein_coding | 2/9 | chr5 | TogoVar | ||||||
| PPP2R2B_chr5_146575742_146883757 | 146812799 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0087 | 1 | 170 | 0.0059 | 30 | c.70+ others(47): Show |
PPP2R2B | ENSG00000156475.19 | transcript | ENST00000394411.9 | protein_coding | 2/9 | chr5 | TogoVar | ||||||
| PPP2R2B_chr5_146575742_146883757 | 146812815 | A | ATGTATAT others(23): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0135 | 1 | 170 | 0.0059 | 30 | c.70+ others(47): Show |
PPP2R2B | ENSG00000156475.19 | transcript | ENST00000394411.9 | protein_coding | 2/9 | chr5 | TogoVar | ||||||
| PPP2R2B_chr5_146575742_146883757 | 146845483 | G | GACCTCGT others(23): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02280.hp1 |
a0001 | a0001c0001 | a0001c0001t0106a0001c0001t0109 | a0001c0001t0106g0164a0001c0001t0109g0165 | 2 | 170 | 0.0118 | 30 | c.70+ others(47): Show |
PPP2R2B | ENSG00000156475.19 | transcript | ENST00000394411.9 | protein_coding | 2/9 | chr5 | TogoVar | ||||||
| PPP2R2C_chr4_6315581_6477614 | 6337112 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 298 | 0.0034 | 30 | c.791 others(47): Show |
PPP2R2C | ENSG00000074211.14 | transcript | ENST00000382599.9 | protein_coding | 6/8 | chr4 | TogoVar | ||||||
| PPP2R2D_chr10_131896008_131964834 | 131901020 | C | CCGGCGGC others(23): Show |
5_prime_UTR_variant | MODIFIER | HG04184.hp1 NA19066.hp1 |
a0001 | a0001c0001 | a0001c0001t0105a0001c0001t0106 | a0001c0001t0105g0013a0001c0001t0106g0087 | 2 | 394 | 0.0051 | 30 | c.-10 others(39): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 1/9 | 102 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
| PPP2R2D_chr10_131896008_131964834 | 131952538 | T | TTAGTGAC others(23): Show |
intron_variant | MODIFIER | HG00673.hp1 NA18945.hp2 NA18946.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0070 | a0001c0001t0013g0058a0001c0001t0013g0059a0001c0001t0013g0060others(3): Show | 6 | 394 | 0.0152 | 30 | c.108 others(49): Show |
PPP2R2D | ENSG00000175470.20 | transcript | ENST00000455566.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |