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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PATL1_chr11_59631716_59674037 | 59632747 | G | GATATATA others(37): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 276 | 0.0036 | 44 | c.*56 others(55): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 3968 | chr11 | TogoVar | ||||||
PAX3_chr2_222194887_222303998 | 222265646 | A | AGAAGGAA others(37): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 328 | 0.0031 | 44 | c.586 others(63): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 4/8 | chr2 | TogoVar | ||||||
PAX8_chr2_113210997_113283921 | 113255242 | G | GGGAGGAG others(37): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0076a0001c0001t0006g0077a0001c0001t0006g0078others(2): Show | 5 | 300 | 0.0167 | 44 | c.26- others(59): Show |
PAX8 | ENSG00000125618.18 | transcript | ENST00000429538.8 | protein_coding | 2/11 | chr2 | TogoVar | ||||||
PAX8_chr2_113210997_113283921 | 113255277 | G | GGGAGGAG others(37): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02486.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0001t0012a0001c0001t0018others(1): Show | a0001c0001t0011g0024a0001c0001t0011g0025a0001c0001t0012g0022others(4): Show | 7 | 300 | 0.0233 | 44 | c.26- others(59): Show |
PAX8 | ENSG00000125618.18 | transcript | ENST00000429538.8 | protein_coding | 2/11 | chr2 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45667075 | G | GTTCTTTC others(37): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0287 | 1 | 292 | 0.0034 | 44 | c.-27 others(63): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45667075 | G | GTTCTTTC others(37): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0224 | 1 | 292 | 0.0034 | 44 | c.-27 others(63): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45746719 | T | TGGTGTCA others(37): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0035a0001c0001t0003g0044 | 2 | 292 | 0.0069 | 44 | c.-16 others(63): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45746766 | T | TGGTGTCA others(37): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 292 | 0.0034 | 44 | c.-16 others(63): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCBP3_chr21_45638725_45947450 | 45898654 | C | CGCCGTCC others(37): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0263a0001c0001t0004g0002 | 2 | 292 | 0.0069 | 44 | c.166 others(59): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 6/17 | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45898907 | A | ACCCCTCT others(37): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03098.hp1 |
a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0290a0001c0003t0014g0291 | 2 | 292 | 0.0069 | 44 | c.166 others(59): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 91950589 | G | GATATATA others(37): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0002 | a0002c0006 | a0002c0006t0009 | a0002c0006t0009g0032 | 1 | 154 | 0.0065 | 44 | c.303 others(65): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5160038 | T | TATATAAT others(37): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 115 | 0.0087 | 44 | c.285 others(65): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5373126 | C | CCCTCCCT others(37): Show |
intron_variant | MODIFIER | HG02055.hp1 HG04199.hp1 NA19079.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0006a0001c0001t0001g0012a0001c0001t0003g0090 | 3 | 115 | 0.0261 | 44 | c.285 others(67): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5373126 | C | CCCTCCCT others(37): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 115 | 0.0087 | 44 | c.285 others(67): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5373126 | C | CCCTCCCT others(37): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0102 | 1 | 115 | 0.0087 | 44 | c.285 others(67): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5373126 | C | CCCTCCCT others(37): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0107 | 1 | 115 | 0.0087 | 44 | c.285 others(67): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCDH15_chr10_53797771_54806231 | 53855904 | G | GTATATAT others(37): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0094 | 1 | 102 | 0.0098 | 44 | c.380 others(63): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 28/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 53888306 | A | ACATATAT others(37): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01081.hp2 HG01261.hp2 others(7): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0002c0039others(3): Show | a0001c0001t0001a0001c0001t0020a0002c0002t0001others(4): Show | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0101others(7): Show | 10 | 102 | 0.0980 | 44 | c.350 others(65): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 26/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 53888306 | A | ATACATAT others(37): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0007 | a0007c0007 | a0007c0007t0022 | a0007c0007t0022g0075 | 1 | 102 | 0.0098 | 44 | c.350 others(65): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 26/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 53888311 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0010 | a0010c0009 | a0010c0009t0012 | a0010c0009t0012g0042 | 1 | 102 | 0.0098 | 44 | c.350 others(65): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 26/37 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 53855904 | G | GTATATAT others(37): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0005 | a0005c0035 | a0005c0035t0001 | a0005c0035t0001g0086 | 1 | 94 | 0.0106 | 44 | c.380 others(63): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 28/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 53888306 | A | ACATATAT others(37): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01081.hp1 HG01261.hp1 others(7): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0007a0002c0002others(5): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0007t0001g0087others(7): Show | 10 | 94 | 0.1064 | 44 | c.350 others(65): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 26/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 53888306 | A | ATACATAT others(37): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0009 | a0009c0014 | a0009c0014t0001 | a0009c0014t0001g0069 | 1 | 94 | 0.0106 | 44 | c.350 others(65): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 26/32 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 53888311 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0027 | a0027c0027 | a0027c0027t0008 | a0027c0027t0008g0039 | 1 | 94 | 0.0106 | 44 | c.350 others(65): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 26/32 | chr10 | TogoVar | ||||||
PCDH1_chr5_141848090_141883410 | 141850521 | C | CGGGGTGG others(37): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 384 | 0.0026 | 44 | c.*35 others(55): Show |
PCDH1 | ENSG00000156453.14 | transcript | ENST00000287008.8 | protein_coding | 2568 | chr5 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 30960151 | A | AAGGAAGG others(37): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0013 | 1 | 214 | 0.0047 | 44 | c.339 others(65): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCDH7_chr4_30715369_31151800 | 30960151 | A | AAGGAAGG others(37): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03579.hp2 NA18959.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0120a0001c0001t0003g0072a0001c0001t0005g0030others(1): Show | 4 | 214 | 0.0187 | 44 | c.339 others(65): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCDH7_chr4_30715369_31151800 | 30960151 | A | AAGGAAGG others(37): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0019 | a0001c0019t0005 | a0001c0019t0005g0043 | 1 | 214 | 0.0047 | 44 | c.339 others(65): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCDH7_chr4_30715369_31151800 | 30960151 | A | AAGGAAGG others(37): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02717.hp2 NA18949.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0005a0001c0001t0008a0001c0004t0007others(1): Show | a0001c0001t0005g0041a0001c0001t0008g0039a0001c0004t0007g0018others(1): Show | 4 | 214 | 0.0187 | 44 | c.339 others(65): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCDH9_chr13_66297834_67235336 | 66852825 | T | TACAGATT others(37): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0020 | 1 | 80 | 0.0125 | 44 | c.313 others(65): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 3/4 | chr13 | TogoVar | ||||||
PCGF3_chr4_700832_775089 | 733049 | G | GGCCCCTG others(37): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0060 | 1 | 366 | 0.0027 | 44 | c.-9- others(57): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCGF3_chr4_700832_775089 | 733059 | G | GCGTGCTG others(37): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0006 | 1 | 366 | 0.0027 | 44 | c.-9- others(57): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCLO_chr7_82749012_83167884 | 83096860 | A | AATATATT others(37): Show |
intron_variant | MODIFIER | HG03225.hp2 NA21309.hp1 |
a0037a0045 | a0037c0038a0045c0075 | a0037c0038t0016a0045c0075t0003 | a0037c0038t0016g0051a0045c0075t0003g0138 | 2 | 188 | 0.0106 | 44 | c.330 others(65): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCMT1_chr6_149744741_149816419 | 149763019 | A | ATATGATA others(37): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0089 | 1 | 334 | 0.0030 | 44 | c.56- others(59): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46426100 | A | ACAGAGTC others(37): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01106.hp1 HG01109.hp1 others(44): Show |
a0004a0005a0014others(8): Show | a0004c0004a0004c0023a0004c0071others(13): Show | a0004c0004t0001a0004c0004t0006a0004c0023t0003others(14): Show | a0004c0004t0001g0089a0004c0004t0001g0090a0004c0004t0001g0096others(44): Show | 47 | 332 | 0.1416 | 44 | c.732 others(61): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 33/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNT_chr21_46319156_46450769 | 46426100 | A | ACAGAGTC others(37): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0119 | 1 | 332 | 0.0030 | 44 | c.732 others(61): Show |
PCNT | ENSG00000160299.19 | transcript | ENST00000359568.10 | protein_coding | 33/46 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910052 | T | TCCTCCTC others(37): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0020 | a0001c0020t0010 | a0001c0020t0010g0210 | 1 | 352 | 0.0028 | 44 | c.153 others(61): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76351507 | A | AGAAGGAA others(37): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0016 | a0016c0028 | a0016c0028t0062 | a0016c0028t0062g0074 | 1 | 166 | 0.0060 | 44 | c.506 others(61): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK5_chr9_75885673_76367975 | 76351519 | A | AGAAGGAA others(37): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0101 | 1 | 166 | 0.0060 | 44 | c.506 others(61): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 36/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
PCSK6_chr15_101298933_101494707 | 101412691 | T | TTATATAT others(37): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0001 | a0001c0001t0002g0292a0001c0006t0001g0037 | 2 | 336 | 0.0060 | 44 | c.824 others(63): Show |
PCSK6 | ENSG00000140479.18 | transcript | ENST00000611716.5 | protein_coding | 6/21 | chr15 | TogoVar | ||||||
PCSK7_chr11_117199337_117237073 | 117215380 | G | GTGTGTGT others(37): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 460 | 0.0022 | 44 | c.153 others(63): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | ||||||
PCSK7_chr11_117199337_117237073 | 117215380 | G | GTGTGTGT others(37): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0303 | 1 | 460 | 0.0022 | 44 | c.153 others(63): Show |
PCSK7 | ENSG00000160613.15 | transcript | ENST00000320934.8 | protein_coding | 12/16 | chr11 | TogoVar | ||||||
PCYT1B_chrX_24553087_24652347 | 24637491 | A | AAAAAAAA others(37): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 260 | 0.0039 | 44 | c.117 others(61): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | ||||||
PCYT1B_chrX_24553087_24652347 | 24637491 | A | AAAAAATA others(37): Show |
intron_variant | MODIFIER | NA18984.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0025 | a0001c0001t0011g0093a0001c0001t0025g0092 | 2 | 260 | 0.0077 | 44 | c.117 others(61): Show |
PCYT1B | ENSG00000102230.14 | transcript | ENST00000379144.7 | protein_coding | 1/7 | chrX | TogoVar | ||||||
PC_chr11_66843420_66963383 | 66903810 | C | CCACACAC others(37): Show |
intron_variant | MODIFIER | HG01361.hp1 HG02071.hp1 HG02602.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0117others(2): Show | 5 | 274 | 0.0183 | 44 | c.1-3 others(59): Show |
PC | ENSG00000173599.15 | transcript | ENST00000393960.7 | protein_coding | 3/22 | chr11 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 318527 | G | GGAGAGGG others(37): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG01081.hp2 others(26): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0149a0001c0001t0003g0064a0001c0001t0003g0070others(25): Show | 29 | 360 | 0.0806 | 44 | c.*40 others(55): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 3554 | chr5 | TogoVar | ||||||
PDE1A_chr2_182135041_182432036 | 182264878 | C | CATATATA others(37): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0157 | 1 | 264 | 0.0038 | 44 | c.54- others(57): Show |
PDE1A | ENSG00000115252.19 | transcript | ENST00000409365.6 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
PDE3A_chr12_20363537_20693583 | 20386049 | T | TATAAATA others(37): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00544.hp1 others(57): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(45): Show | a0001c0001t0001g0105a0001c0001t0001g0132a0001c0001t0002g0055others(57): Show | 60 | 198 | 0.3030 | 44 | c.960 others(63): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE3A_chr12_20363537_20693583 | 20386102 | T | TATATATA others(37): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0136 | 1 | 198 | 0.0051 | 44 | c.960 others(63): Show |
PDE3A | ENSG00000172572.7 | transcript | ENST00000359062.4 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
PDE3B_chr11_14638804_14877044 | 14749899 | C | CATATATA others(37): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02922.hp2 HG03579.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0271a0001c0001t0001g0315a0001c0001t0002g0045others(2): Show | 5 | 332 | 0.0151 | 44 | c.979 others(63): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |