| 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 | 59652064 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG01123.hp1 HG02056.hp1 others(7): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0004a0001c0010t0014 | a0001c0001t0004g0012a0001c0001t0004g0169a0001c0001t0004g0196others(5): Show | 10 | 276 | 0.0362 | -17 | c.142 others(34): Show |
PATL1 | ENSG00000166889.14 | transcript | ENST00000300146.10 | protein_coding | 11/18 | chr11 | TogoVar | ||||||
| PAWR_chr12_79579879_79695964 | 79639869 | TATTCCTA others(10): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02976.hp1 HG03688.hp1 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0002a0005c0007t0033a0005c0007t0034 | a0001c0001t0002g0081a0005c0007t0033g0256a0005c0007t0034g0255 | 3 | 256 | 0.0117 | -17 | c.517 others(36): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
| PAWR_chr12_79579879_79695964 | 79639975 | TCTAAGCG others(10): Show |
T | intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0247 | 1 | 256 | 0.0039 | -17 | c.517 others(36): Show |
PAWR | ENSG00000177425.11 | transcript | ENST00000328827.9 | protein_coding | 2/6 | chr12 | TogoVar | ||||||
| PAX3_chr2_222194887_222303998 | 222209696 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010 | 1 | 328 | 0.0031 | -17 | c.117 others(36): Show |
PAX3 | ENSG00000135903.20 | transcript | ENST00000392070.7 | protein_coding | 7/8 | chr2 | TogoVar | ||||||
| PAX5_chr9_36828269_37039268 | 36870086 | AAATGGAT others(10): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0201 | 1 | 274 | 0.0037 | -17 | c.101 others(38): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 8/9 | chr9 | TogoVar | ||||||
| PAX5_chr9_36828269_37039268 | 36924731 | AGGTGGAA others(10): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0015 | a0001c0002t0007g0235a0001c0002t0015g0233a0001c0002t0015g0234 | 3 | 274 | 0.0110 | -17 | c.781 others(34): Show |
PAX5 | ENSG00000196092.14 | transcript | ENST00000358127.9 | protein_coding | 6/9 | chr9 | TogoVar | ||||||
| PAX6_chr11_31784026_31816322 | 31794453 | CACACACA others(10): Show |
C | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0245 | 1 | 376 | 0.0027 | -17 | c.724 others(32): Show |
PAX6 | ENSG00000007372.25 | transcript | ENST00000640368.2 | protein_coding | 9/13 | chr11 | TogoVar | ||||||
| PBK_chr8_27804624_27842817 | 27831531 | TCATTGAC others(10): Show |
T | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 392 | 0.0026 | -17 | c.58+ others(32): Show |
PBK | ENSG00000168078.10 | transcript | ENST00000301905.9 | protein_coding | 2/7 | chr8 | TogoVar | ||||||
| PBRM1_chr3_52540367_52690913 | 52596436 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG01071.hp2 HG01081.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009 | a0001c0001t0001g0113a0001c0001t0001g0114a0001c0001t0001g0115others(9): Show | 12 | 300 | 0.0400 | -17 | c.282 others(36): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 19/31 | chr3 | TogoVar | ||||||
| PBRM1_chr3_52540367_52690913 | 52647452 | AAAAAAAT others(10): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG02129.hp2 HG02132.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0156a0001c0002t0001g0157a0001c0002t0001g0161others(5): Show | 8 | 300 | 0.0267 | -17 | c.813 others(32): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 8/31 | chr3 | TogoVar | ||||||
| PBRM1_chr3_52540367_52690913 | 52647454 | AAAAATAT others(10): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG01169.hp2 others(11): Show |
a0001a0004 | a0001c0002a0004c0010 | a0001c0002t0001a0001c0002t0003a0004c0010t0001 | a0001c0002t0001g0153a0001c0002t0001g0154a0001c0002t0001g0159others(11): Show | 14 | 300 | 0.0467 | -17 | c.813 others(32): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 8/31 | chr3 | TogoVar | ||||||
| PBRM1_chr3_52540367_52690913 | 52647456 | AAATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01257.hp1 HG01496.hp2 HG01975.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003 | a0001c0002t0001g0174a0001c0002t0001g0175a0001c0002t0001g0229others(1): Show | 4 | 300 | 0.0133 | -17 | c.813 others(32): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 8/31 | chr3 | TogoVar | ||||||
| PBRM1_chr3_52540367_52690913 | 52647458 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00673.hp2 NA18957.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0158a0001c0002t0001g0176 | 2 | 300 | 0.0067 | -17 | c.813 others(32): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 8/31 | chr3 | TogoVar | ||||||
| PBRM1_chr3_52540367_52690913 | 52676136 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0001 | 1 | 300 | 0.0033 | -17 | c.236 others(34): Show |
PBRM1 | ENSG00000163939.19 | transcript | ENST00000707071.1 | protein_coding | 3/31 | chr3 | TogoVar | ||||||
| PBX3_chr9_125742373_125972377 | 125835015 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | NA18943.hp2 NA19056.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208a0001c0001t0001g0209 | 2 | 294 | 0.0068 | -17 | c.275 others(36): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PBX3_chr9_125742373_125972377 | 125943352 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp2 HG01891.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0182a0001c0001t0001g0263others(7): Show | 12 | 294 | 0.0408 | -17 | c.843 others(34): Show |
PBX3 | ENSG00000167081.18 | transcript | ENST00000373489.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| PBX4_chr19_19556713_19623687 | 19556747 | CAAAAAAA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01074.hp2 HG01952.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0345a0001c0001t0001g0346a0001c0001t0001g0348others(6): Show | 9 | 376 | 0.0239 | -17 | c.*52 others(28): Show |
PBX4 | ENSG00000105717.14 | transcript | ENST00000251203.14 | protein_coding | 4965 | chr19 | TogoVar | ||||||
| PCBP3_chr21_45638725_45947450 | 45664210 | CAGAATAA others(10): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(176): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0120a0001c0001t0001g0121a0001c0001t0001g0122others(176): Show | 179 | 292 | 0.6130 | -17 | c.-27 others(36): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCBP3_chr21_45638725_45947450 | 45816486 | CCTCCTCC others(10): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG03098.hp1 |
a0001 | a0001c0003 | a0001c0003t0014 | a0001c0003t0014g0290a0001c0003t0014g0291 | 2 | 292 | 0.0069 | -17 | c.-12 others(38): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100298612 | TCCCTCCC others(10): Show |
T | intron_variant | MODIFIER | HG02257.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0018 | 1 | 174 | 0.0058 | -17 | c.106 others(36): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 12/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCCA_chr13_100084093_100535435 | 100422065 | TTTTCTTT others(10): Show |
T | intron_variant | MODIFIER | HG03041.hp1 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0071a0001c0001t0002g0004 | 2 | 174 | 0.0115 | -17 | c.174 others(36): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCDH10_chr4_133144294_133199700 | 133184902 | AACTGTGT others(10): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0139a0001c0001t0019g0151 | 2 | 382 | 0.0052 | -17 | c.310 others(36): Show |
PCDH10 | ENSG00000138650.9 | transcript | ENST00000264360.7 | protein_coding | 4/4 | chr4 | TogoVar | ||||||
| PCDH11X_chrX_91774375_92628230 | 92452482 | TATATATA others(10): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 154 | 0.0065 | -17 | c.334 others(38): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 9/10 | chrX | TogoVar | ||||||
| PCDH11X_chrX_91774375_92628230 | 92499636 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01192.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0076a0001c0001t0003g0139a0001c0001t0004g0063others(5): Show | 8 | 154 | 0.0520 | -17 | c.336 others(38): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| PCDH11Y_chrY_4995296_5747224 | 5393657 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01952.hp1 NA18970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048a0001c0001t0001g0077 | 2 | 115 | 0.0174 | -17 | c.285 others(40): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
| PCDH11Y_chrY_4995296_5747224 | 5637921 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG02258.hp1 HG02895.hp1 others(5): Show |
a0001a0005 | a0001c0001a0001c0006a0005c0004 | a0001c0001t0001a0001c0006t0001a0005c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0101a0001c0001t0001g0103others(5): Show | 8 | 115 | 0.0696 | -17 | c.307 others(38): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |||||
| PCDH15_chr10_53797771_54806231 | 53888685 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0003 | 1 | 102 | 0.0098 | -17 | c.350 others(38): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 26/37 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53797771_54806231 | 54242129 | TTTATATA others(10): Show |
T | intron_variant | MODIFIER | NA20129.hp1 | a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0028 | 1 | 102 | 0.0098 | -17 | c.877 others(34): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53797771_54806231 | 54316558 | ACACACAC others(10): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 102 | 0.0098 | -17 | c.876 others(32): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53797771_54806231 | 54752513 | CAAACAAA others(10): Show |
C | intron_variant | MODIFIER | NA19088.hp2 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0026 | 1 | 102 | 0.0098 | -17 | c.-29 others(36): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 1/37 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53797771_54806231 | 54774007 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01192.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0091 | 1 | 102 | 0.0098 | -17 | c.-29 others(36): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 1/37 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53816099_54806231 | 53888685 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 94 | 0.0106 | -17 | c.350 others(38): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 26/32 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53816099_54806231 | 54242129 | TTTATATA others(10): Show |
T | intron_variant | MODIFIER | NA20129.hp1 | a0012 | a0012c0020 | a0012c0020t0001 | a0012c0020t0001g0025 | 1 | 94 | 0.0106 | -17 | c.877 others(34): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53816099_54806231 | 54316558 | ACACACAC others(10): Show |
A | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 94 | 0.0106 | -17 | c.876 others(32): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53816099_54806231 | 54752513 | CAAACAAA others(10): Show |
C | intron_variant | MODIFIER | NA19088.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0023 | 1 | 94 | 0.0106 | -17 | c.-29 others(36): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | ||||||
| PCDH15_chr10_53816099_54806231 | 54774007 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 94 | 0.0106 | -17 | c.-29 others(36): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 1/32 | chr10 | TogoVar | ||||||
| PCDH17_chr13_57626744_57734311 | 57641572 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG02257.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0034 | a0001c0001t0010g0274a0001c0001t0034g0247 | 2 | 310 | 0.0065 | -17 | c.256 others(36): Show |
PCDH17 | ENSG00000118946.12 | transcript | ENST00000377918.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCDH17_chr13_57626744_57734311 | 57641574 | AAAAAAAA others(10): Show |
A | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0062 | 1 | 310 | 0.0032 | -17 | c.256 others(36): Show |
PCDH17 | ENSG00000118946.12 | transcript | ENST00000377918.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| PCDH17_chr13_57626744_57734311 | 57641588 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064 | 1 | 310 | 0.0032 | -17 | c.256 others(36): Show |
PCDH17 | ENSG00000118946.12 | transcript | ENST00000377918.8 | protein_coding | 1/3 | chr13 | TogoVar | ||||||
| PCDH7_chr4_30715369_31151800 | 30896889 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0005 | a0005c0014 | a0005c0014t0010 | a0005c0014t0010g0108 | 1 | 214 | 0.0047 | -17 | c.317 others(38): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCDH7_chr4_30715369_31151800 | 31056461 | GAAAGAAA others(10): Show |
G | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0136 | 1 | 214 | 0.0047 | -17 | c.339 others(38): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCDH7_chr4_30715369_31151800 | 31108369 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG03239.hp2 HG03710.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0094a0001c0001t0009g0171a0001c0001t0009g0208 | 3 | 214 | 0.0140 | -17 | c.339 others(38): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCDH8_chr13_52837889_52853640 | 52843393 | AACATCAT others(10): Show |
A | 3_prime_UTR_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0028 | 1 | 428 | 0.0023 | -17 | c.*11 others(28): Show |
PCDH8 | ENSG00000136099.13 | transcript | ENST00000377942.7 | protein_coding | 3/3 | 1150 | chr13 | TogoVar | |||||
| PCDH9_chr13_66297834_67235336 | 66342783 | GTATTTAT others(10): Show |
G | intron_variant | MODIFIER | HG03209.hp2 NA18522.hp1 |
a0001 | a0001c0004a0001c0011 | a0001c0004t0001a0001c0011t0007 | a0001c0004t0001g0041a0001c0011t0007g0002 | 2 | 80 | 0.0250 | -17 | c.334 others(38): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 4/4 | chr13 | TogoVar | ||||||
| PCDH9_chr13_66297834_67235336 | 66680577 | TCAGGTCG others(10): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01884.hp1 others(13): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0015others(8): Show | a0001c0001t0003g0059a0001c0001t0003g0062a0001c0001t0003g0072others(13): Show | 16 | 80 | 0.2000 | -17 | c.313 others(38): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 3/4 | chr13 | TogoVar | ||||||
| PCDH9_chr13_66297834_67235336 | 66717475 | AAAAAAAT others(10): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0006 | a0006c0016 | a0006c0016t0001 | a0006c0016t0001g0049 | 1 | 80 | 0.0125 | -17 | c.313 others(38): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 3/4 | chr13 | TogoVar | ||||||
| PCDH9_chr13_66297834_67235336 | 66747378 | AACAAAAC others(10): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG02132.hp1 HG02717.hp2 others(6): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0016a0001c0002t0002others(3): Show | a0001c0001t0001g0060a0001c0001t0001g0066a0001c0001t0001g0073others(6): Show | 9 | 80 | 0.1125 | -17 | c.313 others(40): Show |
PCDH9 | ENSG00000184226.15 | transcript | ENST00000377865.7 | protein_coding | 3/4 | chr13 | TogoVar | ||||||
| PCDHB13_chr5_141208919_141223979 | 141221473 | AATGCTAT others(10): Show |
A | downstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 428 | 0.0023 | -17 | c.*49 others(28): Show |
PCDHB13 | ENSG00000187372.11 | transcript | ENST00000341948.6 | protein_coding | 2495 | chr5 | TogoVar | ||||||
| PCDHB14_chr5_141218343_141232759 | 141221473 | AATGCTAT others(10): Show |
A | upstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 448 | 0.0022 | -17 | c.-20 others(28): Show |
PCDHB14 | ENSG00000120327.7 | transcript | ENST00000239449.7 | protein_coding | 1869 | chr5 | TogoVar | ||||||
| PCDHB14_chr5_141218343_141232759 | 141228684 | CTGCCTCA others(10): Show |
C | downstream_gene_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 448 | 0.0022 | -17 | c.*27 others(28): Show |
PCDHB14 | ENSG00000120327.7 | transcript | ENST00000239449.7 | protein_coding | 926 | chr5 | TogoVar |