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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PDGFC_chr4_156755454_156976799 | 156826316 | CTGAGTAG others(3): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02486.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0009a0001c0001t0016others(2): Show | a0001c0001t0004g0093a0001c0001t0004g0127a0001c0001t0004g0128others(12): Show | 15 | 208 | 0.0721 | -10 | c.315 others(29): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 2/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156851930 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 208 | 0.0048 | -10 | c.119 others(27): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156852203 | TTGGAGAT others(3): Show |
T | intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 208 | 0.0048 | -10 | c.119 others(27): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156922155 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG01975.hp1 HG02280.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0174a0001c0001t0002g0030a0001c0001t0008g0171others(1): Show | 4 | 208 | 0.0192 | -10 | c.118 others(29): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156945342 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG01069.hp2 HG01071.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0021a0001c0001t0001g0134a0001c0001t0001g0136others(11): Show | 14 | 208 | 0.0673 | -10 | c.118 others(29): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 1/5 | chr4 | TogoVar | ||||||
PDGFC_chr4_156755454_156976799 | 156974933 | AATATATA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 208 | 0.0048 | -10 | c.-40 others(21): Show |
PDGFC | ENSG00000145431.11 | transcript | ENST00000502773.6 | protein_coding | 3135 | chr4 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 104103462 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG02723.hp2 HG02965.hp1 HG03041.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0009a0001c0002t0001others(2): Show | a0001c0001t0002g0020a0001c0001t0009g0192a0001c0002t0001g0190others(2): Show | 5 | 200 | 0.0250 | -10 | c.124 others(29): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 104118843 | ATATTATA others(3): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG03579.hp2 HG03688.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(1): Show | a0001c0001t0002g0093a0001c0001t0002g0104a0001c0001t0002g0118others(7): Show | 10 | 200 | 0.0500 | -10 | c.124 others(29): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
PDGFD_chr11_103902189_104169147 | 104131972 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG01978.hp2 HG02040.hp2 HG02145.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0021others(2): Show | a0001c0001t0002g0060a0001c0001t0003g0097a0001c0001t0003g0195others(6): Show | 9 | 200 | 0.0450 | -10 | c.124 others(29): Show |
PDGFD | ENSG00000170962.13 | transcript | ENST00000393158.7 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
PDGFRA_chr4_54224293_54303245 | 54266401 | TTTCTTTT others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0085 | 1 | 300 | 0.0033 | -10 | c.760 others(25): Show |
PDGFRA | ENSG00000134853.12 | transcript | ENST00000257290.10 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDGFRA_chr4_54224293_54303245 | 54271980 | CCCCCTCC others(3): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255a0001c0001t0001g0264 | 2 | 300 | 0.0067 | -10 | c.123 others(27): Show |
PDGFRA | ENSG00000134853.12 | transcript | ENST00000257290.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDGFRA_chr4_54224293_54303245 | 54278223 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(165): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0007others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(24): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(160): Show | 168 | 300 | 0.5600 | -10 | c.200 others(27): Show |
PDGFRA | ENSG00000134853.12 | transcript | ENST00000257290.10 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDGFRA_chr4_54224293_54303245 | 54284554 | GAGAGAGA others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(153): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0003a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(21): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(149): Show | 156 | 300 | 0.5200 | -10 | c.232 others(27): Show |
PDGFRA | ENSG00000134853.12 | transcript | ENST00000257290.10 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDGFRB_chr5_150108839_150160845 | 150117536 | GCGCGCGC others(3): Show |
G | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0004 | a0001c0004t0009 | a0001c0004t0009g0073 | 1 | 418 | 0.0024 | -10 | c.313 others(25): Show |
PDGFRB | ENSG00000113721.14 | transcript | ENST00000261799.9 | protein_coding | 22/22 | chr5 | TogoVar | ||||||
PDGFRB_chr5_150108839_150160845 | 150117538 | GCGCGCGC others(3): Show |
G | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 418 | 0.0024 | -10 | c.313 others(25): Show |
PDGFRB | ENSG00000113721.14 | transcript | ENST00000261799.9 | protein_coding | 22/22 | chr5 | TogoVar | ||||||
PDGFRB_chr5_150108839_150160845 | 150117540 | GCGCGCAC others(3): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01884.hp2 HG02055.hp1 others(5): Show |
a0001a0002a0007 | a0001c0001a0002c0006a0007c0030 | a0001c0001t0007a0002c0006t0007a0007c0030t0007 | a0001c0001t0007g0067a0001c0001t0007g0070a0002c0006t0007g0011others(4): Show | 8 | 418 | 0.0191 | -10 | c.313 others(25): Show |
PDGFRB | ENSG00000113721.14 | transcript | ENST00000261799.9 | protein_coding | 22/22 | chr5 | TogoVar | ||||||
PDGFRB_chr5_150108839_150160845 | 150117542 | GCGCACAC others(3): Show |
G | intron_variant | MODIFIER | HG02109.hp1 HG02622.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0146a0001c0007t0003g0192a0001c0007t0003g0194others(1): Show | 4 | 418 | 0.0096 | -10 | c.313 others(25): Show |
PDGFRB | ENSG00000113721.14 | transcript | ENST00000261799.9 | protein_coding | 22/22 | chr5 | TogoVar | ||||||
PDGFRB_chr5_150108839_150160845 | 150117544 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG01981.hp2 HG02809.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0031 | a0001c0001t0007a0001c0001t0015a0003c0031t0003 | a0001c0001t0007g0079a0001c0001t0007g0116a0001c0001t0015g0044others(3): Show | 6 | 418 | 0.0144 | -10 | c.313 others(25): Show |
PDGFRB | ENSG00000113721.14 | transcript | ENST00000261799.9 | protein_coding | 22/22 | chr5 | TogoVar | ||||||
PDGFRB_chr5_150108839_150160845 | 150156505 | TGAGAGAA others(3): Show |
T | upstream_gene_variant | MODIFIER | NA18942.hp1 NA18984.hp2 NA18988.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0031a0001c0001t0001g0256others(2): Show | 5 | 418 | 0.0120 | -10 | c.-11 others(21): Show |
PDGFRB | ENSG00000113721.14 | transcript | ENST00000261799.9 | protein_coding | 661 | chr5 | TogoVar | ||||||
PDGFRL_chr8_17572216_17648144 | 17592911 | TACATGCA others(3): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0001 | a0001c0001t0001g0185a0001c0001t0001g0192a0001c0001t0001g0193others(6): Show | 10 | 400 | 0.0250 | -10 | c.353 others(27): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PDGFRL_chr8_17572216_17648144 | 17630629 | GCTCCCCT others(3): Show |
G | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0159 | 1 | 400 | 0.0025 | -10 | c.799 others(27): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PDGFRL_chr8_17572216_17648144 | 17638738 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02615.hp1 |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0001a0004c0005t0001 | a0002c0003t0001g0297a0004c0005t0001g0233 | 2 | 400 | 0.0050 | -10 | c.940 others(27): Show |
PDGFRL | ENSG00000104213.13 | transcript | ENST00000251630.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PDHX_chr11_34911618_35001128 | 34922864 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02976.hp1 HG03041.hp1 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0004 | a0002c0004t0004g0236a0002c0004t0004g0237a0002c0004t0004g0238others(1): Show | 4 | 314 | 0.0127 | -10 | c.160 others(27): Show |
PDHX | ENSG00000110435.13 | transcript | ENST00000227868.9 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PDHX_chr11_34911618_35001128 | 34931812 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02451.hp1 HG02615.hp1 others(8): Show |
a0002 | a0002c0003a0002c0008a0002c0027 | a0002c0003t0003a0002c0008t0006a0002c0027t0003 | a0002c0003t0003g0247a0002c0003t0003g0276a0002c0003t0003g0277others(6): Show | 11 | 314 | 0.0350 | -10 | c.241 others(25): Show |
PDHX | ENSG00000110435.13 | transcript | ENST00000227868.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PDHX_chr11_34911618_35001128 | 34939468 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG01106.hp1 HG01168.hp2 others(37): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0004others(1): Show | a0001c0002t0007a0001c0002t0014a0002c0003t0003others(2): Show | a0001c0002t0007g0187a0001c0002t0007g0188a0001c0002t0007g0189others(29): Show | 40 | 314 | 0.1274 | -10 | c.242 others(27): Show |
PDHX | ENSG00000110435.13 | transcript | ENST00000227868.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PDHX_chr11_34911618_35001128 | 34994462 | CACTACTG others(3): Show |
C | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 314 | 0.0032 | -10 | c.124 others(27): Show |
PDHX | ENSG00000110435.13 | transcript | ENST00000227868.9 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
PDIA2_chr16_278164_292215 | 280651 | GGCTCCGC others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02809.hp2 HG03195.hp1 |
a0003a0013 | a0003c0008a0013c0024 | a0003c0008t0001a0013c0024t0001 | a0003c0008t0001g0144a0013c0024t0001g0032 | 3 | 436 | 0.0069 | -10 | c.-25 others(21): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 2512 | chr16 | TogoVar | ||||||
PDIA3_chr15_43741438_43778278 | 43745750 | GACAAAAC others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0018 | 1 | 358 | 0.0028 | -10 | c.-78 others(19): Show |
PDIA3 | ENSG00000167004.14 | transcript | ENST00000300289.10 | protein_coding | 687 | chr15 | TogoVar | ||||||
PDIA5_chr3_123062025_123167104 | 123153325 | GGCCTGCA others(3): Show |
G | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0135 | 1 | 332 | 0.0030 | -10 | c.127 others(29): Show |
PDIA5 | ENSG00000065485.20 | transcript | ENST00000316218.12 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PDIA6_chr2_10778391_10817785 | 10782829 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01071.hp1 others(32): Show |
a0001a0002 | a0001c0003a0001c0005a0002c0002 | a0001c0003t0008a0001c0003t0016a0001c0005t0003others(1): Show | a0001c0003t0008g0022a0001c0003t0016g0297a0001c0005t0003g0011others(29): Show | 35 | 342 | 0.1023 | -10 | c.*14 others(21): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 561 | chr2 | TogoVar | ||||||
PDIK1L_chr1_26106824_26130555 | 26113498 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02886.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0017a0001c0001t0005g0031a0001c0001t0005g0045 | 7 | 350 | 0.0200 | -10 | c.-17 others(25): Show |
PDIK1L | ENSG00000175087.10 | transcript | ENST00000374269.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PDILT_chr16_20354175_20409737 | 20363469 | ATGTGTAT others(3): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02809.hp1 HG02970.hp2 others(2): Show |
a0003a0006a0011 | a0003c0029a0006c0010a0011c0013 | a0003c0029t0001a0006c0010t0001a0011c0013t0002 | a0003c0029t0001g0143a0006c0010t0001g0155a0006c0010t0001g0159others(2): Show | 5 | 406 | 0.0123 | -10 | c.123 others(27): Show |
PDILT | ENSG00000169340.10 | transcript | ENST00000302451.9 | protein_coding | 9/11 | chr16 | TogoVar | ||||||
PDILT_chr16_20354175_20409737 | 20396435 | ATTTCAAC others(3): Show |
A | intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0386 | 1 | 406 | 0.0025 | -10 | c.202 others(27): Show |
PDILT | ENSG00000169340.10 | transcript | ENST00000302451.9 | protein_coding | 2/11 | chr16 | TogoVar | ||||||
PDILT_chr16_20354175_20409737 | 20400036 | ATCTATCT others(3): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 406 | 0.0025 | -10 | c.-7- others(23): Show |
PDILT | ENSG00000169340.10 | transcript | ENST00000302451.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
PDK1_chr2_172551090_172613669 | 172557610 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG02886.hp2 HG02896.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0085 | a0001c0001t0010g0071a0001c0001t0010g0072a0001c0001t0010g0073others(1): Show | 4 | 342 | 0.0117 | -10 | c.197 others(27): Show |
PDK1 | ENSG00000152256.14 | transcript | ENST00000282077.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PDK1_chr2_172551090_172613669 | 172583281 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0027a0001c0001t0045g0032 | 2 | 342 | 0.0059 | -10 | c.946 others(27): Show |
PDK1 | ENSG00000152256.14 | transcript | ENST00000282077.8 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PDK3_chrX_24460286_24539422 | 24518837 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0219a0001c0001t0001g0242a0001c0001t0001g0243others(50): Show | 54 | 258 | 0.2093 | -10 | c.596 others(23): Show |
PDK3 | ENSG00000067992.17 | transcript | ENST00000379162.9 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PDK3_chrX_24460286_24539422 | 24537282 | ATTTTTTT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 258 | 0.0039 | -10 | c.*32 others(21): Show |
PDK3 | ENSG00000067992.17 | transcript | ENST00000379162.9 | protein_coding | 2861 | chrX | TogoVar | ||||||
PDK4_chr7_95578499_95601516 | 95580039 | TTATATAT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG00741.hp1 HG02145.hp1 HG02280.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0036a0001c0002t0011a0001c0002t0020 | a0001c0001t0036g0113a0001c0002t0011g0025a0001c0002t0011g0049others(2): Show | 7 | 384 | 0.0182 | -10 | c.*55 others(21): Show |
PDK4 | ENSG00000004799.8 | transcript | ENST00000005178.6 | protein_coding | 3459 | chr7 | TogoVar | ||||||
PDLIM1_chr10_95232572_95296003 | 95255900 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02922.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166a0001c0001t0001g0167 | 2 | 338 | 0.0059 | -10 | c.533 others(27): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 4/6 | chr10 | TogoVar | ||||||
PDLIM1_chr10_95232572_95296003 | 95283981 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0260 | 1 | 338 | 0.0030 | -10 | c.96+ others(25): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 1/6 | chr10 | TogoVar | ||||||
PDLIM1_chr10_95232572_95296003 | 95295659 | CGGCGGGG others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02132.hp2 NA18747.hp1 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101a0001c0001t0001g0107a0001c0001t0001g0108 | 3 | 338 | 0.0089 | -10 | c.-47 others(21): Show |
PDLIM1 | ENSG00000107438.9 | transcript | ENST00000329399.7 | protein_coding | 4657 | chr10 | TogoVar | ||||||
PDLIM2_chr8_22575475_22599298 | 22589913 | CGGTCCGG others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(96): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(5): Show | a0001c0001t0001g0079a0001c0001t0001g0159a0001c0001t0002g0002others(78): Show | 99 | 380 | 0.2605 | -10 | c.763 others(25): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
PDLIM2_chr8_22575475_22599298 | 22596997 | ACAGCTCT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02809.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037a0001c0001t0001g0108 | 2 | 380 | 0.0053 | -10 | c.*30 others(21): Show |
PDLIM2 | ENSG00000120913.24 | transcript | ENST00000409417.6 | protein_coding | 2700 | chr8 | TogoVar | ||||||
PDLIM3_chr4_185495660_185540507 | 185497978 | CAAAAAAA others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 412 | 0.0024 | -10 | c.*43 others(21): Show |
PDLIM3 | ENSG00000154553.17 | transcript | ENST00000284767.12 | protein_coding | 2681 | chr4 | TogoVar | ||||||
PDLIM3_chr4_185495660_185540507 | 185530979 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG01261.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(2): Show | a0001c0001t0001g0011a0001c0001t0001g0016a0001c0001t0001g0164others(21): Show | 38 | 412 | 0.0922 | -10 | c.93+ others(25): Show |
PDLIM3 | ENSG00000154553.17 | transcript | ENST00000284767.12 | protein_coding | 1/7 | chr4 | TogoVar | ||||||
PDLIM3_chr4_185495660_185540507 | 185531007 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | NA18952.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0295 | 1 | 412 | 0.0024 | -10 | c.93+ others(25): Show |
PDLIM3 | ENSG00000154553.17 | transcript | ENST00000284767.12 | protein_coding | 1/7 | chr4 | TogoVar | ||||||
PDLIM5_chr4_94446942_94673223 | 94465910 | TTGTGTAT others(3): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02717.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0002a0001c0001t0020a0001c0001t0021others(2): Show | a0001c0001t0002g0085a0001c0001t0002g0086a0001c0001t0002g0087others(4): Show | 7 | 218 | 0.0321 | -10 | c.96+ others(27): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDLIM5_chr4_94446942_94673223 | 94530510 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG02145.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0001t0030a0001c0002t0005 | a0001c0001t0017g0214a0001c0001t0030g0215a0001c0002t0005g0187others(1): Show | 4 | 218 | 0.0184 | -10 | c.248 others(27): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PDLIM5_chr4_94446942_94673223 | 94543778 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG00673.hp1 others(34): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0002a0001c0001t0017a0001c0001t0030others(13): Show | a0001c0001t0002g0181a0001c0001t0017g0214a0001c0001t0030g0215others(34): Show | 37 | 218 | 0.1697 | -10 | c.248 others(29): Show |
PDLIM5 | ENSG00000163110.15 | transcript | ENST00000317968.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |