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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCBP3_chr21_45638725_45947450 | 45910104 | C | CCCACCCA others(20): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02965.hp1 HG03017.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0225a0001c0001t0002g0226a0001c0004t0002g0087 | 3 | 292 | 0.0103 | 27 | c.471 others(42): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
PCCA_chr13_100084093_100535435 | 100132270 | C | CCATTACC others(20): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(134): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(134): Show | 137 | 174 | 0.7874 | 27 | c.300 others(46): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PCCA_chr13_100084093_100535435 | 100422119 | T | TTTCTTTC others(20): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0051 | 1 | 174 | 0.0058 | 27 | c.174 others(46): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92111219 | T | TAAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 154 | 0.0065 | 27 | c.303 others(48): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92148173 | C | CTTCCTTC others(20): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 154 | 0.0065 | 27 | c.303 others(48): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92326622 | C | CTATATAT others(20): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 154 | 0.0065 | 27 | c.314 others(48): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11X_chrX_91774375_92628230 | 92331279 | T | TTTCTTCT others(20): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02630.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006 | a0001c0001t0002g0057a0001c0001t0005g0050a0001c0001t0006g0022 | 3 | 154 | 0.0195 | 27 | c.314 others(48): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5069694 | G | GCAGACTC others(20): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18971.hp1 NA18974.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0003c0003t0004 | a0001c0001t0003g0088a0001c0001t0003g0089a0001c0001t0003g0090others(3): Show | 6 | 115 | 0.0522 | 27 | c.360 others(46): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5373126 | C | CCCTCCCT others(20): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 115 | 0.0087 | 27 | c.285 others(50): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCDH11Y_chrY_4995296_5747224 | 5373126 | C | CCCTTCTT others(20): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0030 | 1 | 115 | 0.0087 | 27 | c.285 others(50): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
PCDH15_chr10_53797771_54806231 | 54804931 | A | ATATATAT others(20): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0016 | a0016c0012 | a0016c0012t0001 | a0016c0012t0001g0008 | 1 | 102 | 0.0098 | 27 | c.-40 others(38): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 3701 | chr10 | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 54804935 | A | ATATATAT others(20): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0095 | 1 | 102 | 0.0098 | 27 | c.-40 others(38): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 3705 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54804931 | A | ATATATAT others(20): Show |
upstream_gene_variant | MODIFIER | NA19240.hp1 | a0014 | a0014c0012 | a0014c0012t0001 | a0014c0012t0001g0008 | 1 | 94 | 0.0106 | 27 | c.-40 others(38): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 3701 | chr10 | TogoVar | ||||||
PCDH15_chr10_53816099_54806231 | 54804935 | A | ATATATAT others(20): Show |
upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0087 | 1 | 94 | 0.0106 | 27 | c.-40 others(38): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 3705 | chr10 | TogoVar | ||||||
PCDH19_chrX_100286644_100415273 | 100322865 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 281 | 0.0036 | 27 | c.284 others(48): Show |
PCDH19 | ENSG00000165194.15 | transcript | ENST00000373034.8 | protein_coding | 5/5 | chrX | TogoVar | ||||||
PCDH1_chr5_141848090_141883410 | 141850526 | T | TGGGGGGG others(20): Show |
downstream_gene_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 384 | 0.0026 | 27 | c.*35 others(38): Show |
PCDH1 | ENSG00000156453.14 | transcript | ENST00000287008.8 | protein_coding | 2563 | chr5 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 30716893 | A | AAGCAGCA others(20): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 NA18906.hp2 |
a0001 | a0001c0005 | a0001c0005t0001a0001c0005t0034 | a0001c0005t0001g0103a0001c0005t0034g0105 | 2 | 214 | 0.0094 | 27 | c.-45 others(38): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 3475 | chr4 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 31056458 | G | GAAAAAGA others(20): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 NA18945.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0052a0001c0001t0004g0070a0001c0001t0004g0086others(1): Show | 4 | 214 | 0.0187 | 27 | c.339 others(48): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
PCDH7_chr4_30715369_31151800 | 31097638 | A | ATATATAC others(20): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0135 | 1 | 214 | 0.0047 | 27 | c.339 others(48): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | chr4 | TogoVar | ||||||
PCDH7_chr4_30715369_31151800 | 31150365 | A | ATTTTTCT others(20): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG00673.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0001t0017others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0051a0001c0001t0001g0052others(17): Show | 20 | 214 | 0.0935 | 27 | c.*75 others(38): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 3566 | chr4 | TogoVar | ||||||
PCDHA10_chr5_140850897_141017347 | 140937615 | T | TCAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18906.hp2 NA19240.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0027a0003c0003t0001g0028 | 2 | 260 | 0.0077 | 27 | c.238 others(48): Show |
PCDHA10 | ENSG00000250120.8 | transcript | ENST00000307360.6 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCDHA11_chr5_140863957_141017347 | 140937615 | T | TCAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18906.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121a0001c0001t0001g0122 | 2 | 260 | 0.0077 | 27 | c.239 others(48): Show |
PCDHA11 | ENSG00000249158.7 | transcript | ENST00000398640.7 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCDHA12_chr5_140870308_141017347 | 140937615 | T | TCAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18906.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111a0001c0001t0001g0112 | 2 | 260 | 0.0077 | 27 | c.236 others(48): Show |
PCDHA12 | ENSG00000251664.5 | transcript | ENST00000398631.3 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCDHA13_chr5_140877124_141017347 | 140937615 | T | TCAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18906.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120a0001c0001t0001g0121 | 2 | 260 | 0.0077 | 27 | c.239 others(48): Show |
PCDHA13 | ENSG00000239389.8 | transcript | ENST00000289272.3 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCDHA1_chr5_140781140_141017347 | 140937615 | T | TCAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18906.hp1 NA19240.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0093a0001c0005t0001g0094 | 2 | 200 | 0.0100 | 27 | c.239 others(48): Show |
PCDHA1 | ENSG00000204970.10 | transcript | ENST00000504120.4 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCDHA2_chr5_140789852_141017347 | 140937615 | T | TCAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18906.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087a0001c0001t0001g0088 | 2 | 202 | 0.0099 | 27 | c.238 others(48): Show |
PCDHA2 | ENSG00000204969.7 | transcript | ENST00000526136.2 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCDHA3_chr5_140796057_141017347 | 140937615 | T | TCAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18906.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003 | 2 | 208 | 0.0096 | 27 | c.239 others(48): Show |
PCDHA3 | ENSG00000255408.4 | transcript | ENST00000522353.3 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCDHA4_chr5_140802068_141017347 | 140937615 | T | TCAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18906.hp2 NA19240.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001a0003c0003t0001g0002 | 2 | 212 | 0.0094 | 27 | c.238 others(48): Show |
PCDHA4 | ENSG00000204967.13 | transcript | ENST00000530339.2 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCDHA5_chr5_140816613_141017347 | 140937615 | T | TCAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18906.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114a0001c0001t0001g0115 | 2 | 220 | 0.0091 | 27 | c.235 others(48): Show |
PCDHA5 | ENSG00000204965.9 | transcript | ENST00000529859.2 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCDHA6_chr5_140822960_141017347 | 140937615 | T | TCAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18906.hp1 NA19240.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0013a0002c0003t0001g0014 | 2 | 236 | 0.0085 | 27 | c.239 others(48): Show |
PCDHA6 | ENSG00000081842.18 | transcript | ENST00000529310.6 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCDHA7_chr5_140829269_141017347 | 140937615 | T | TCAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18906.hp2 NA19240.hp2 |
a0002 | a0002c0011 | a0002c0011t0001 | a0002c0011t0001g0076a0002c0011t0001g0077 | 2 | 248 | 0.0081 | 27 | c.235 others(48): Show |
PCDHA7 | ENSG00000204963.6 | transcript | ENST00000525929.2 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCDHA8_chr5_140836187_141017347 | 140937615 | T | TCAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18906.hp1 NA19240.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0024a0003c0003t0001g0025 | 2 | 258 | 0.0078 | 27 | c.239 others(48): Show |
PCDHA8 | ENSG00000204962.6 | transcript | ENST00000531613.2 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCDHA9_chr5_140843382_141017347 | 140937615 | T | TCAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18906.hp1 NA19240.hp2 |
a0012 | a0012c0012 | a0012c0012t0010 | a0012c0012t0010g0228a0012c0012t0010g0229 | 2 | 256 | 0.0078 | 27 | c.239 others(48): Show |
PCDHA9 | ENSG00000204961.7 | transcript | ENST00000532602.2 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCDHAC1_chr5_140921299_141017347 | 140937615 | T | TCAAAAAA others(20): Show |
intron_variant | MODIFIER | NA18906.hp2 NA19240.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0215a0001c0003t0001g0216 | 2 | 280 | 0.0071 | 27 | c.243 others(46): Show |
PCDHAC1 | ENSG00000248383.5 | transcript | ENST00000253807.3 | protein_coding | 1/3 | chr5 | TogoVar | ||||||
PCGF6_chr10_103297796_103356140 | 103302452 | G | GTTTTTTT others(20): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 1 | 372 | 0.0027 | 27 | c.*14 others(38): Show |
PCGF6 | ENSG00000156374.16 | transcript | ENST00000369847.4 | protein_coding | 343 | chr10 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 82751473 | A | AAAAAAAA others(20): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG03195.hp1 |
a0001a0059 | a0001c0053a0059c0051 | a0001c0053t0003a0059c0051t0003 | a0001c0053t0003g0131a0059c0051t0003g0123 | 2 | 188 | 0.0106 | 27 | c.*71 others(38): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 2538 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 82999857 | T | TTAAGTAT others(20): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0018 | a0018c0034 | a0018c0034t0005 | a0018c0034t0005g0059 | 1 | 188 | 0.0053 | 27 | c.330 others(48): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83057348 | A | ATATATAT others(20): Show |
intron_variant | MODIFIER | NA19085.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0100 | 1 | 188 | 0.0053 | 27 | c.330 others(48): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCLO_chr7_82749012_83167884 | 83078519 | C | CATTATTA others(20): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02615.hp1 HG02809.hp1 others(4): Show |
a0001a0003a0009others(1): Show | a0001c0003a0001c0053a0003c0090others(2): Show | a0001c0003t0002a0001c0003t0008a0001c0003t0029others(4): Show | a0001c0003t0002g0110a0001c0003t0008g0127a0001c0003t0029g0117others(4): Show | 7 | 188 | 0.0372 | 27 | c.330 others(48): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | ||||||
PCNP_chr3_101569180_101599465 | 101595787 | C | CTTTTTTT others(20): Show |
downstream_gene_variant | MODIFIER | NA19067.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 424 | 0.0024 | 27 | c.*30 others(38): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 1323 | chr3 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70910070 | T | TCCCCCTC others(20): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01255.hp1 HG02698.hp1 others(1): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0001a0001c0001t0004a0001c0016t0004 | a0001c0001t0001g0234a0001c0001t0001g0239a0001c0001t0004g0235others(1): Show | 4 | 352 | 0.0114 | 27 | c.153 others(44): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910118 | T | TCCTCCTC others(20): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01099.hp1 HG01515.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0229a0001c0001t0001g0232a0001c0001t0004g0230 | 3 | 352 | 0.0085 | 27 | c.153 others(44): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910154 | C | CCCTCCCC others(20): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01175.hp2 |
a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0001a0001c0002t0005g0101 | 3 | 352 | 0.0085 | 27 | c.153 others(44): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910157 | T | TCCTCCTC others(20): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0262 | 1 | 352 | 0.0028 | 27 | c.153 others(44): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910168 | C | CTCCTCCT others(20): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0087 | 1 | 352 | 0.0028 | 27 | c.153 others(44): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910169 | T | TCCTCCCC others(20): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0009 | 1 | 352 | 0.0028 | 27 | c.153 others(44): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910174 | C | CTCCTCCT others(20): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0071 | 1 | 352 | 0.0028 | 27 | c.153 others(44): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 70910175 | T | TCCTTCTC others(20): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0017 | a0017c0031 | a0017c0031t0075 | a0017c0031t0075g0054 | 1 | 352 | 0.0028 | 27 | c.153 others(44): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
PCNX1_chr14_70902459_71120382 | 71119428 | C | CTTTTTTT others(20): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00642.hp2 others(10): Show |
a0001 | a0001c0002a0001c0004a0001c0006 | a0001c0002t0003a0001c0002t0005a0001c0002t0009others(2): Show | a0001c0002t0003g0293a0001c0002t0005g0001a0001c0002t0005g0056others(10): Show | 13 | 352 | 0.0369 | 27 | c.*94 others(38): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 4047 | chr14 | TogoVar | ||||||
PCOLCE_chr7_100597363_100613175 | 100607090 | C | CAAAAAAA others(20): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 332 | 0.0030 | 27 | c.941 others(42): Show |
PCOLCE | ENSG00000106333.13 | transcript | ENST00000223061.6 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |