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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
POLDIP2_chr17_28341633_28362527 | 28353520 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01952.hp1 HG02615.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0036 a0001c0001t0002g0021 a0001c0001t0002g0154 others(3): Show |
10 | 81 | 0.1235 | 30 | c.438 others(45): Show |
POLDIP2 | ENSG00000004142.12 | transcript | ENST00000540200.6 | protein_coding | 4/10 | chr17 | TogoVar | |||||||
POLE4_chr2_74953643_74975128 | 74958402 | G | GCACAGGC others(23): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 474 | 0.0021 | 30 | c.-27 others(39): Show |
POLE4 | ENSG00000115350.12 | transcript | ENST00000483063.2 | protein_coding | 240 | chr2 | TogoVar | |||||||
POLE_chr12_132618762_132692342 | 132658881 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0002 | a0002c0040 | a0002c0040t0001 | a0002c0040t0001g0249 | 1 | 61 | 0.0164 | 30 | c.327 others(47): Show |
POLE | ENSG00000177084.19 | transcript | ENST00000320574.10 | protein_coding | 26/48 | chr12 | TogoVar | |||||||
POLN_chr4_2066918_2247121 | 2096686 | A | AAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0147 | 1 | 72 | 0.0139 | 30 | c.198 others(47): Show |
POLN | ENSG00000130997.16 | transcript | ENST00000511885.6 | protein_coding | 19/25 | chr4 | TogoVar | |||||||
POLR2D_chr2_127838553_127863155 | 127856290 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00741.hp2 |
a0001 | a0001c0001 | a0001c0001t0074a0001c0001t0076 | a0001c0001t0074g0242 a0001c0001t0076g0241 |
2 | 6 | 0.3333 | 30 | c.73+ others(45): Show |
POLR2D | ENSG00000144231.11 | transcript | ENST00000272645.9 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
POLR2J_chr7_102468128_102483922 | 102473506 | G | GACACGTC others(23): Show |
3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(201): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0012 others(40): Show |
204 | 408 | 0.5000 | 30 | c.*11 others(39): Show |
POLR2J | ENSG00000005075.16 | transcript | ENST00000292614.10 | protein_coding | 4/4 | 142 | chr7 | TogoVar | ||||||
POLR2J_chr7_102468128_102483922 | 102473508 | C | CACGTCGG others(23): Show |
3_prime_UTR_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0067 | 1 | 408 | 0.0025 | 30 | c.*14 others(39): Show |
POLR2J | ENSG00000005075.16 | transcript | ENST00000292614.10 | protein_coding | 4/4 | 140 | chr7 | TogoVar | ||||||
POLR3B_chr12_106352748_106515198 | 106479796 | C | CTTCTTTT others(23): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01106.hp2 HG01515.hp2 others(11): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0013 a0001c0001t0001g0028 a0001c0001t0001g0030 others(11): Show |
14 | 125 | 0.1120 | 30 | c.271 others(51): Show |
POLR3B | ENSG00000013503.10 | transcript | ENST00000228347.9 | protein_coding | 23/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
POLR3G_chr5_90469864_90519557 | 90514755 | A | AACACACA others(23): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 HG02132.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0038 | a0001c0001t0010g0009 a0001c0001t0038g0097 |
3 | 132 | 0.0227 | 30 | c.*26 others(41): Show |
POLR3G | ENSG00000113356.13 | transcript | ENST00000651687.1 | protein_coding | 199 | chr5 | TogoVar | |||||||
POLRMT_chr19_612221_638537 | 626898 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0260 | 1 | 335 | 0.0030 | 30 | c.823 others(47): Show |
POLRMT | ENSG00000099821.14 | transcript | ENST00000588649.7 | protein_coding | 3/20 | chr19 | TogoVar | |||||||
POM121C_chr7_75411786_75491299 | 75442236 | T | TGGAGCGC others(23): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0019 | a0019c0027 | a0019c0027t0003 | a0019c0027t0003g0057 | 1 | 306 | 0.0033 | 30 | c.-15 others(47): Show |
POM121C | ENSG00000272391.6 | transcript | ENST00000615331.5 | protein_coding | 3/14 | chr7 | TogoVar | |||||||
POMZP3_chr7_76604986_76632279 | 76620861 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0068 | 1 | 93 | 0.0108 | 30 | c.228 others(47): Show |
POMZP3 | ENSG00000146707.15 | transcript | ENST00000310842.9 | protein_coding | 3/6 | chr7 | TogoVar | |||||||
PON1_chr7_95292676_95329532 | 95302096 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0245 | 1 | 151 | 0.0066 | 30 | c.909 others(45): Show |
PON1 | ENSG00000005421.9 | transcript | ENST00000222381.8 | protein_coding | 8/8 | chr7 | TogoVar | |||||||
POP7_chr7_100701121_100712486 | 100710266 | G | GTGTGTAT others(23): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 294 | 0.0068 | 30 | c.*30 others(41): Show |
POP7 | ENSG00000172336.5 | transcript | ENST00000303151.5 | protein_coding | 2781 | chr7 | TogoVar | |||||||
POSTN_chr13_37557585_37603768 | 37564181 | C | CTTGTATA others(23): Show |
intron_variant | MODIFIER | NA18953.hp1 NA18959.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0296 a0001c0001t0003g0274 |
2 | 182 | 0.0110 | 30 | c.247 others(47): Show |
POSTN | ENSG00000133110.15 | transcript | ENST00000379747.9 | protein_coding | 22/22 | chr13 | TogoVar | |||||||
POTED_chr21_13604777_13650823 | 13646287 | A | AAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG02698.hp1 NA18747.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0003a0001c0003t0038others(1): Show | a0001c0003t0001g0001 a0001c0003t0003g0001 a0001c0003t0003g0020 others(2): Show |
5 | 136 | 0.0368 | 30 | c.*47 others(41): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 465 | chr21 | TogoVar | |||||||
POTED_chr21_13604777_13650823 | 13646287 | A | AAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | HG01123.hp2 HG04115.hp1 |
a0008 | a0008c0009 | a0008c0009t0014 | a0008c0009t0014g0022 a0008c0009t0014g0215 |
2 | 133 | 0.0150 | 30 | c.*47 others(41): Show |
POTED | ENSG00000166351.11 | transcript | ENST00000299443.6 | protein_coding | 465 | chr21 | TogoVar | |||||||
POTEM_chr14_18962434_19008752 | 18969357 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG03654.hp2 NA18994.hp2 |
a0004 | a0004c0004 | a0004c0004t0033a0004c0004t0034 | a0004c0004t0033g0008 a0004c0004t0034g0007 |
2 | 18 | 0.1111 | 30 | c.521 others(47): Show |
POTEM | ENSG00000222036.8 | transcript | ENST00000547889.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
POU2AF2_chr11_111240725_111291401 | 111280057 | A | AAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0082 | 1 | 116 | 0.0086 | 30 | c.121 others(47): Show |
POU2AF2 | ENSG00000150750.9 | transcript | ENST00000280325.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39005484 | C | CTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01256.hp1 HG03654.hp1 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0034 a0001c0001t0002g0038 a0001c0001t0005g0033 |
3 | 26 | 0.1154 | 30 | c.105 others(49): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39068490 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0048 | 1 | 52 | 0.0192 | 30 | c.106 others(49): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
POU6F2_chr7_38972909_39473601 | 39397814 | G | GTATATAT others(23): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03516.hp1 |
a0001a0004 | a0001c0002a0004c0016 | a0001c0002t0001a0004c0016t0001 | a0001c0002t0001g0089 a0004c0016t0001g0092 |
2 | 65 | 0.0308 | 30 | c.973 others(47): Show |
POU6F2 | ENSG00000106536.21 | transcript | ENST00000518318.7 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
PPA1_chr10_70197835_70238429 | 70206865 | A | AGGAGGGG others(23): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG01123.hp1 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(24): Show |
48 | 64 | 0.7500 | 30 | c.726 others(45): Show |
PPA1 | ENSG00000180817.12 | transcript | ENST00000373232.8 | protein_coding | 8/10 | chr10 | TogoVar | |||||||
PPA2_chr4_105364077_105479062 | 105460856 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 351 | 0.0028 | 30 | c.158 others(47): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 1/11 | chr4 | TogoVar | |||||||
PPA2_chr4_105364077_105479062 | 105460858 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02896.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 a0001c0001t0002g0185 a0001c0001t0002g0186 others(1): Show |
4 | 337 | 0.0119 | 30 | c.158 others(47): Show |
PPA2 | ENSG00000138777.20 | transcript | ENST00000341695.10 | protein_coding | 1/11 | chr4 | TogoVar | |||||||
PPARA_chr22_46145526_46248755 | 46146490 | A | AGAAGAGA others(23): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0159 | 1 | 152 | 0.0066 | 30 | c.-43 others(41): Show |
PPARA | ENSG00000186951.17 | transcript | ENST00000407236.6 | protein_coding | 4035 | chr22 | TogoVar | |||||||
PPARD_chr6_35337558_35433178 | 35377871 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 125 | 0.0080 | 30 | c.-10 others(51): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPARD_chr6_35337558_35433178 | 35415778 | C | CTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02145.hp1 others(9): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0004a0001c0002t0005others(3): Show | a0001c0002t0003g0017 a0001c0002t0003g0035 a0001c0002t0003g0037 others(9): Show |
12 | 166 | 0.0723 | 30 | c.131 others(47): Show |
PPARD | ENSG00000112033.14 | transcript | ENST00000360694.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PPARGC1B_chr5_149725310_149860022 | 149750453 | A | AATATATA others(23): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0167 | 1 | 8 | 0.1250 | 30 | c.78+ others(47): Show |
PPARGC1B | ENSG00000155846.17 | transcript | ENST00000309241.10 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PPARG_chr3_12284070_12439344 | 12406532 | C | CTTTTTTT others(23): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 97 | 0.0103 | 30 | c.729 others(45): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PPARG_chr3_12284070_12439344 | 12427211 | A | ATTCCGTT others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(183): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(183): Show |
186 | 292 | 0.6370 | 30 | c.118 others(49): Show |
PPARG | ENSG00000132170.24 | transcript | ENST00000651735.1 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PPDPF_chr20_63515765_63527206 | 63520752 | T | TCCGCGCG others(23): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 392 | 0.0026 | 30 | c.-16 others(39): Show |
PPDPF | ENSG00000125534.10 | transcript | ENST00000370179.8 | protein_coding | 12 | chr20 | TogoVar | |||||||
PPFIA1_chr11_70265690_70389396 | 70279905 | A | ATGTGTGT others(23): Show |
intron_variant | MODIFIER | HG03225.hp2 NA18997.hp1 |
a0001 | a0001c0003a0001c0015 | a0001c0003t0003a0001c0015t0007 | a0001c0003t0003g0027 a0001c0015t0007g0044 |
2 | 210 | 0.0095 | 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 | 10 | 0.1000 | 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 | a0001c0001t0001g0050 a0001c0001t0001g0088 |
2 | 22 | 0.0909 | 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 | 12 | 0.0833 | 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 | 248 | 0.0040 | 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 | a0001c0001t0002g0206 | 1 | 129 | 0.0078 | 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 | a0001c0001t0002g0206 | 1 | 47 | 0.0213 | 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 | a0001c0001t0005g0091 a0001c0001t0005g0349 |
2 | 40 | 0.0500 | 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 | a0001c0001t0008g0055 | 1 | 123 | 0.0081 | 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 | a0001c0001t0003g0024 a0001c0001t0003g0185 a0001c0001t0003g0208 others(25): Show |
29 | 85 | 0.3412 | 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 | a0001c0002t0002g0250 a0001c0002t0002g0253 a0001c0002t0002g0255 others(16): Show |
19 | 200 | 0.0950 | 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 | a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0078 others(20): Show |
24 | 275 | 0.0873 | 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 | a0001c0001t0001g0127 | 1 | 88 | 0.0114 | 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 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0017 a0001c0001t0001g0119 others(7): Show |
12 | 253 | 0.0474 | 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 | a0001c0001t0004g0066 a0001c0001t0004g0068 |
2 | 209 | 0.0096 | 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 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0004t0012 | a0001c0001t0003g0275 a0001c0004t0012g0127 a0001c0004t0012g0128 |
3 | 78 | 0.0385 | 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 | a0001c0002t0007 | a0001c0002t0007g0241 | 1 | 6 | 0.1667 | 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 | 413 | 0.0024 | 30 | c.*36 others(41): Show |
PPM1J | ENSG00000155367.16 | transcript | ENST00000309276.11 | protein_coding | 3521 | chr1 | TogoVar |