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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCBP3_chr21_45638725_45947450 | 45815656 | G | GTGAGTGA others(22): Show |
intron_variant | MODIFIER | HG02809.hp2 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0034 a0001c0001t0003g0063 |
2 | 76 | 0.0263 | 29 | c.-12 others(50): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45816131 | T | TGGTGGTG others(22): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0061 | 1 | 290 | 0.0034 | 29 | c.-12 others(50): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45909739 | G | GCCCACCC others(22): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 289 | 0.0035 | 29 | c.471 others(44): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45909762 | A | ACCCCCCC others(22): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 266 | 0.0038 | 29 | c.471 others(44): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45909792 | C | CCCCCCCC others(22): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 177 | 0.0056 | 29 | c.471 others(44): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45909878 | C | CCCCCCAC others(22): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 288 | 0.0035 | 29 | c.471 others(44): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | chr21 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45909941 | C | CCACTTCC others(22): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(54): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0175 a0001c0001t0002g0035 a0001c0001t0002g0036 others(53): Show |
57 | 285 | 0.2000 | 29 | c.471 others(44): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45909967 | C | CACACACT others(22): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0230 | 1 | 290 | 0.0034 | 29 | c.471 others(44): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45910078 | C | CCACCCAC others(22): Show |
intron_variant | MODIFIER | HG02165.hp1 HG02896.hp2 NA18967.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0002g0110 |
3 | 127 | 0.0236 | 29 | c.471 others(44): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | chr21 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45910079 | A | AACCCACT others(22): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0161 | 1 | 45 | 0.0222 | 29 | c.471 others(44): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | chr21 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45940782 | C | CGCCAGGC others(22): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00544.hp2 HG00642.hp1 others(57): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0002g0215 a0001c0001t0002g0221 a0001c0001t0002g0243 others(57): Show |
60 | 244 | 0.2459 | 29 | c.107 others(46): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45940792 | A | ACTGTACC others(22): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0216 | 1 | 290 | 0.0034 | 29 | c.107 others(46): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45940801 | C | CCAGCCCC others(22): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0011 | 1 | 290 | 0.0034 | 29 | c.107 others(46): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45940818 | C | CACACTGT others(22): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0281 | 1 | 290 | 0.0034 | 29 | c.107 others(46): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 17/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100422070 | T | TCTTTCTT others(22): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0059 | 1 | 58 | 0.0172 | 29 | c.174 others(48): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 19/23 | chr13 | TogoVar | |||||||
PCCA_chr13_100084093_100535435 | 100451946 | C | CCCTCTCT others(22): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 171 | 0.0058 | 29 | c.189 others(48): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCB_chr3_136245340_136335169 | 136331832 | G | GGTCGCCC others(22): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 298 | 0.0034 | 29 | c.*18 others(40): Show |
PCCB | ENSG00000114054.14 | transcript | ENST00000251654.9 | protein_coding | 1664 | chr3 | TogoVar | |||||||
PCDH11X_chrX_91774375_92628230 | 92147853 | T | TTCTTCTC others(22): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0125 | 1 | 154 | 0.0065 | 29 | c.303 others(50): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11X_chrX_91774375_92628230 | 92375166 | A | ATATATAT others(22): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 | 1 | 19 | 0.0526 | 29 | c.314 others(50): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
PCDH11Y_chrY_4995296_5747224 | 5373126 | C | CCCTCCCT others(22): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0072 | 1 | 9 | 0.1111 | 29 | c.285 others(52): Show |
PCDH11Y | ENSG00000099715.15 | transcript | ENST00000698851.1 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
PCDH15_chr10_53797771_54806231 | 53964413 | T | TAAATTTT others(22): Show |
intron_variant | MODIFIER | HG00642.hp2 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0068 a0002c0002t0002g0036 |
2 | 92 | 0.0217 | 29 | c.286 others(48): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 21/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54241867 | G | GTTTAAGA others(22): Show |
intron_variant | MODIFIER | HG00642.hp1 HG03492.hp2 HG03710.hp2 others(2): Show |
a0001a0002a0005others(2): Show | a0001c0042a0002c0039a0005c0040others(2): Show | a0001c0042t0016a0002c0039t0001a0005c0040t0001others(2): Show | a0001c0042t0016g0002 a0002c0039t0001g0073 a0005c0040t0001g0071 others(2): Show |
5 | 99 | 0.0505 | 29 | c.877 others(46): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54296144 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0076 | 1 | 16 | 0.0625 | 29 | c.876 others(48): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 8/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53797771_54806231 | 54622608 | A | AATATATA others(22): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03139.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0008 | a0001c0001t0001g0006 a0002c0002t0008g0017 |
2 | 95 | 0.0211 | 29 | c.91+ others(46): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000644397.2 | protein_coding | 2/37 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 53964413 | T | TAAATTTT others(22): Show |
intron_variant | MODIFIER | HG00642.hp1 NA20129.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0063 a0002c0002t0001g0033 |
2 | 86 | 0.0233 | 29 | c.286 others(48): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 21/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54241867 | G | GTTTAAGA others(22): Show |
intron_variant | MODIFIER | HG00642.hp2 HG03492.hp2 HG03710.hp1 others(2): Show |
a0002a0005a0024others(2): Show | a0002c0044a0005c0045a0024c0021others(2): Show | a0002c0044t0001a0005c0045t0001a0024c0021t0001others(2): Show | a0002c0044t0001g0067 a0005c0045t0001g0065 a0024c0021t0001g0066 others(2): Show |
5 | 91 | 0.0549 | 29 | c.877 others(46): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54296144 | C | CAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0005 | a0005c0009 | a0005c0009t0002 | a0005c0009t0002g0070 | 1 | 16 | 0.0625 | 29 | c.876 others(48): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 8/32 | chr10 | TogoVar | |||||||
PCDH15_chr10_53816099_54806231 | 54622608 | A | AATATATA others(22): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03139.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0006 a0002c0002t0002g0017 |
2 | 87 | 0.0230 | 29 | c.91+ others(46): Show |
PCDH15 | ENSG00000150275.20 | transcript | ENST00000320301.11 | protein_coding | 2/32 | chr10 | TogoVar | |||||||
PCDH7_chr4_30715369_31151800 | 31150365 | A | ATTTTTCT others(22): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 HG01081.hp1 HG03041.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0008a0001c0001t0039others(3): Show | a0001c0001t0001g0095 a0001c0001t0001g0110 a0001c0001t0001g0120 others(6): Show |
9 | 94 | 0.0957 | 29 | c.*75 others(40): Show |
PCDH7 | ENSG00000169851.16 | transcript | ENST00000695919.1 | protein_coding | 3566 | chr4 | TogoVar | |||||||
PCDHA10_chr5_140850897_141017347 | 140941255 | C | CTTTCTTT others(22): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0009 | a0009c0029 | a0009c0029t0001 | a0009c0029t0001g0011 | 1 | 212 | 0.0047 | 29 | c.238 others(50): Show |
PCDHA10 | ENSG00000250120.8 | transcript | ENST00000307360.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA11_chr5_140863957_141017347 | 140941255 | C | CTTTCTTT others(22): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0005 | a0005c0016 | a0005c0016t0001 | a0005c0016t0001g0002 | 1 | 214 | 0.0047 | 29 | c.239 others(50): Show |
PCDHA11 | ENSG00000249158.7 | transcript | ENST00000398640.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA12_chr5_140870308_141017347 | 140941255 | C | CTTTCTTT others(22): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0007 | a0007c0026 | a0007c0026t0017 | a0007c0026t0017g0112 | 1 | 213 | 0.0047 | 29 | c.236 others(50): Show |
PCDHA12 | ENSG00000251664.5 | transcript | ENST00000398631.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA13_chr5_140877124_141017347 | 140941255 | C | CTTTCTTT others(22): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0023 | a0002c0023t0001 | a0002c0023t0001g0005 | 1 | 213 | 0.0047 | 29 | c.239 others(50): Show |
PCDHA13 | ENSG00000239389.8 | transcript | ENST00000289272.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA1_chr5_140781140_141017347 | 140941255 | C | CTTTCTTT others(22): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0006 | a0006c0018 | a0006c0018t0001 | a0006c0018t0001g0100 | 1 | 167 | 0.0060 | 29 | c.239 others(50): Show |
PCDHA1 | ENSG00000204970.10 | transcript | ENST00000504120.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA2_chr5_140789852_141017347 | 140941255 | C | CTTTCTTT others(22): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 169 | 0.0059 | 29 | c.238 others(50): Show |
PCDHA2 | ENSG00000204969.7 | transcript | ENST00000526136.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA3_chr5_140796057_141017347 | 140941255 | C | CTTTCTTT others(22): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 175 | 0.0057 | 29 | c.239 others(50): Show |
PCDHA3 | ENSG00000255408.4 | transcript | ENST00000522353.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA4_chr5_140802068_141017347 | 140941255 | C | CTTTCTTT others(22): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0005 | 1 | 178 | 0.0056 | 29 | c.238 others(50): Show |
PCDHA4 | ENSG00000204967.13 | transcript | ENST00000530339.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA5_chr5_140816613_141017347 | 140941255 | C | CTTTCTTT others(22): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210 | 1 | 182 | 0.0055 | 29 | c.235 others(50): Show |
PCDHA5 | ENSG00000204965.9 | transcript | ENST00000529859.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA6_chr5_140822960_141017347 | 140941255 | C | CTTTCTTT others(22): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 194 | 0.0052 | 29 | c.239 others(50): Show |
PCDHA6 | ENSG00000081842.18 | transcript | ENST00000529310.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA7_chr5_140829269_141017347 | 140941255 | C | CTTTCTTT others(22): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 205 | 0.0049 | 29 | c.235 others(50): Show |
PCDHA7 | ENSG00000204963.6 | transcript | ENST00000525929.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA8_chr5_140836187_141017347 | 140941255 | C | CTTTCTTT others(22): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 213 | 0.0047 | 29 | c.239 others(50): Show |
PCDHA8 | ENSG00000204962.6 | transcript | ENST00000531613.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHA9_chr5_140843382_141017347 | 140941255 | C | CTTTCTTT others(22): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0003 | a0003c0037 | a0003c0037t0001 | a0003c0037t0001g0217 | 1 | 209 | 0.0048 | 29 | c.239 others(50): Show |
PCDHA9 | ENSG00000204961.7 | transcript | ENST00000532602.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHAC1_chr5_140921299_141017347 | 140941255 | C | CTTTCTTT others(22): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0005 | a0005c0010 | a0005c0010t0026 | a0005c0010t0026g0003 | 1 | 233 | 0.0043 | 29 | c.243 others(50): Show |
PCDHAC1 | ENSG00000248383.5 | transcript | ENST00000253807.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHB13_chr5_141208919_141223979 | 141221429 | G | GTGATATA others(22): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 | a0009 | a0009c0011 | a0009c0011t0012 | a0009c0011t0012g0000 | 1 | 226 | 0.0044 | 29 | c.*49 others(40): Show |
PCDHB13 | ENSG00000187372.11 | transcript | ENST00000341948.6 | protein_coding | 2451 | chr5 | TogoVar | |||||||
PCLAF_chr15_64359304_64386441 | 64377488 | A | AAAAAAAA others(22): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0076 | 1 | 203 | 0.0049 | 29 | c.128 others(44): Show |
PCLAF | ENSG00000166803.14 | transcript | ENST00000300035.9 | protein_coding | 2/3 | chr15 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83134242 | T | TATATATA others(22): Show |
splice_region_variant others(1): Show |
LOW | HG04115.hp2 | a0002 | a0002c0087 | a0002c0087t0002 | a0002c0087t0002g0176 | 1 | 160 | 0.0063 | 29 | c.330 others(42): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCM1_chr8_17917988_18034948 | 18010557 | A | ATTATGTA others(22): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02258.hp2 HG02630.hp1 others(3): Show |
a0002a0005 | a0002c0021a0005c0005 | a0002c0021t0027a0005c0005t0014a0005c0005t0027 | a0002c0021t0027g0102 a0005c0005t0014g0160 a0005c0005t0014g0171 others(3): Show |
6 | 366 | 0.0164 | 29 | c.516 others(44): Show |
PCM1 | ENSG00000078674.20 | transcript | ENST00000325083.13 | protein_coding | 31/38 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
PCNP_chr3_101569180_101599465 | 101586572 | G | GAGAGAGA others(22): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00673.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0034 others(11): Show |
28 | 402 | 0.0697 | 29 | c.354 others(46): Show |
PCNP | ENSG00000081154.12 | transcript | ENST00000265260.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 71003080 | C | CTTTTTTT others(22): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0040 | a0001c0001t0040g0005 | 1 | 101 | 0.0099 | 29 | c.263 others(48): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 8/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 71119428 | C | CTTTTTTT others(22): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00544.hp1 others(37): Show |
a0001 | a0001c0002a0001c0028 | a0001c0002t0003a0001c0002t0005a0001c0002t0006others(13): Show | a0001c0002t0003g0276 a0001c0002t0003g0293 a0001c0002t0003g0297 others(37): Show |
40 | 41 | 0.9756 | 29 | c.*94 others(40): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 4047 | chr14 | TogoVar |