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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEMIP_chr15_80774370_80956771 | 80800021 | A | ATGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0137 | 1 | 45 | 0.0222 | 22 | c.-17 others(43): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80829990 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0028 | a0001c0028t0017 | a0001c0028t0017g0134 | 1 | 165 | 0.0061 | 22 | c.-17 others(43): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80832322 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01358.hp2 HG02027.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0050 others(4): Show |
7 | 16 | 0.4375 | 22 | c.-17 others(43): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80839289 | A | AGTGTGTG others(15): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0093 | 1 | 9 | 0.1111 | 22 | c.-17 others(43): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80848900 | G | GCACACAC others(15): Show |
intron_variant | MODIFIER | HG01433.hp1 HG02622.hp2 HG02717.hp1 others(4): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0033others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0020 a0001c0001t0001g0069 a0001c0001t0001g0234 others(4): Show |
7 | 11 | 0.6364 | 22 | c.-17 others(43): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80900638 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0008 | a0001c0008t0003 | a0001c0008t0003g0140 | 1 | 163 | 0.0061 | 22 | c.141 others(41): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80900638 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | NA18984.hp1 NA18986.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0243 a0001c0001t0002g0142 a0001c0002t0001g0055 |
3 | 165 | 0.0182 | 22 | c.141 others(41): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMP1_chr16_2525035_2536408 | 2533430 | A | ATTTTTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG02683.hp2 NA18947.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 17 | 0.2941 | 22 | c.-23 others(33): Show |
CEMP1 | ENSG00000205923.3 | transcript | ENST00000567119.1 | protein_coding | 2023 | chr16 | TogoVar | |||||||
CENPA_chr2_26781056_26799589 | 26784448 | C | CTTTTTTT others(15): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 NA19086.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 2 | 111 | 0.0180 | 22 | c.-17 others(33): Show |
CENPA | ENSG00000115163.15 | transcript | ENST00000335756.9 | protein_coding | 1607 | chr2 | TogoVar | |||||||
CENPC_chr4_67463762_67550503 | 67491472 | T | TAGAGAGA others(15): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 243 | 0.0041 | 22 | c.251 others(39): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 16/18 | chr4 | TogoVar | |||||||
CENPC_chr4_67463762_67550503 | 67491474 | T | TAGAGAGA others(15): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 203 | 0.0049 | 22 | c.251 others(39): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 16/18 | chr4 | TogoVar | |||||||
CENPC_chr4_67463762_67550503 | 67491476 | T | TAGAGAGA others(15): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0280 | 1 | 158 | 0.0063 | 22 | c.251 others(39): Show |
CENPC | ENSG00000145241.11 | transcript | ENST00000273853.11 | protein_coding | 16/18 | chr4 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103132960 | T | TTATATAT others(15): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG01069.hp2 others(11): Show |
a0002a0003a0018 | a0002c0002a0002c0024a0003c0003others(1): Show | a0002c0002t0001a0002c0024t0001a0003c0003t0001others(1): Show | a0002c0002t0001g0032 a0002c0002t0001g0043 a0002c0002t0001g0048 others(11): Show |
14 | 148 | 0.0946 | 22 | c.672 others(37): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 41/48 | chr4 | TogoVar | |||||||
CENPE_chr4_103100811_103203343 | 103132983 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0005 | 2 | 317 | 0.0063 | 22 | c.672 others(37): Show |
CENPE | ENSG00000138778.14 | transcript | ENST00000265148.9 | protein_coding | 41/48 | chr4 | TogoVar | |||||||
CENPH_chr5_69184583_69215357 | 69200719 | C | CTTTTTTT others(15): Show |
intron_variant | MODIFIER | HG00323.hp2 NA18956.hp2 NA18989.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0201 a0001c0001t0001g0214 others(1): Show |
5 | 27 | 0.1852 | 22 | c.372 others(39): Show |
CENPH | ENSG00000153044.10 | transcript | ENST00000283006.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CENPI_chrX_101093204_101171126 | 101102494 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03195.hp2 NA21309.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0007a0002c0003t0007 | a0001c0002t0007g0184 a0001c0002t0007g0186 a0002c0003t0007g0185 |
3 | 171 | 0.0175 | 22 | c.364 others(35): Show |
CENPI | ENSG00000102384.14 | transcript | ENST00000682095.1 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CENPI_chrX_101093204_101171126 | 101102516 | C | CACACACA others(15): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03579.hp1 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009 | a0001c0001t0004g0136 a0001c0001t0009g0189 a0001c0001t0009g0190 |
3 | 183 | 0.0164 | 22 | c.364 others(37): Show |
CENPI | ENSG00000102384.14 | transcript | ENST00000682095.1 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CENPI_chrX_101093204_101171126 | 101162471 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0009 | 1 | 166 | 0.0060 | 22 | c.213 others(39): Show |
CENPI | ENSG00000102384.14 | transcript | ENST00000682095.1 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CENPJ_chr13_24877279_24927861 | 24881816 | C | CTATATAG others(15): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG02132.hp1 HG03471.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0060 a0001c0001t0008g0137 a0001c0001t0008g0273 others(2): Show |
5 | 399 | 0.0125 | 22 | c.*13 others(33): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 462 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24881962 | C | CTAGATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 | 1 | 200 | 0.0050 | 22 | c.*12 others(33): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 316 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24881980 | C | CTAGATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02135.hp1 NA18982.hp1 others(1): Show |
a0001a0009 | a0001c0001a0009c0013 | a0001c0001t0008a0009c0013t0008a0009c0013t0012 | a0001c0001t0008g0139 a0009c0013t0008g0059 a0009c0013t0012g0062 |
4 | 167 | 0.0240 | 22 | c.*11 others(33): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 298 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24881980 | C | CTATATAT others(15): Show |
downstream_gene_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0033 | 2 | 165 | 0.0121 | 22 | c.*11 others(33): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 298 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882147 | T | TATATATA others(15): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 HG01517.hp2 HG02818.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 a0001c0001t0002g0010 a0001c0001t0002g0049 others(5): Show |
11 | 436 | 0.0252 | 22 | c.*10 others(33): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 131 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882151 | G | GATACATC others(15): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0053 | 1 | 72 | 0.0139 | 22 | c.*10 others(33): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 127 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24882169 | G | GATACATC others(15): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0053 | 1 | 80 | 0.0125 | 22 | c.*10 others(33): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 109 | chr13 | TogoVar | |||||||
CENPJ_chr13_24877279_24927861 | 24924305 | G | GGGAAGAA others(15): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(205): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0002a0001c0001t0016a0001c0002t0001others(16): Show | a0001c0001t0002g0004 a0001c0001t0002g0007 a0001c0001t0002g0010 others(115): Show |
208 | 437 | 0.4760 | 22 | c.-16 others(33): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 1445 | chr13 | TogoVar | |||||||
CENPO_chr2_24788425_24827376 | 24817466 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA19003.hp1 NA19030.hp2 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0031 | a0002c0002t0003g0079 a0002c0002t0031g0071 |
2 | 56 | 0.0357 | 22 | c.767 others(37): Show |
CENPO | ENSG00000138092.11 | transcript | ENST00000380834.7 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92352505 | G | GTGTATAC others(15): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0191 | 1 | 132 | 0.0076 | 22 | c.467 others(39): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92352505 | G | GTGTGTAT others(15): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02895.hp1 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0011a0002c0002t0012 | a0001c0001t0006g0202 a0001c0001t0011g0219 a0002c0002t0012g0203 |
3 | 134 | 0.0224 | 22 | c.467 others(39): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92352505 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01884.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007 | a0001c0001t0001g0194 a0001c0001t0001g0213 a0001c0001t0001g0221 others(3): Show |
6 | 137 | 0.0438 | 22 | c.467 others(39): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92352505 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0218 a0001c0001t0007g0192 |
2 | 133 | 0.0150 | 22 | c.467 others(39): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92352505 | G | GTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 132 | 0.0076 | 22 | c.467 others(39): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92352510 | C | CATATATA others(15): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02273.hp2 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0042 | a0001c0001t0001g0237 a0001c0001t0001g0241 a0001c0001t0001g0247 others(1): Show |
4 | 77 | 0.0519 | 22 | c.467 others(39): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92390587 | T | TGTGTGTG others(15): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0259 | 1 | 228 | 0.0044 | 22 | c.564 others(41): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92567373 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 58 | 0.0172 | 22 | c.565 others(41): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92567373 | G | GATATATA others(15): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 58 | 0.0172 | 22 | c.565 others(41): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92567399 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0164 | 1 | 177 | 0.0056 | 22 | c.565 others(41): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92567399 | T | TATATATA others(15): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0076 | 1 | 177 | 0.0056 | 22 | c.565 others(41): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92567403 | T | TAGATAGA others(15): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18962.hp1 NA18970.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0034 | a0001c0001t0003g0140 a0001c0001t0003g0158 a0001c0001t0003g0172 others(5): Show |
8 | 248 | 0.0323 | 22 | c.565 others(41): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CENPS_chr1_10425433_10447808 | 10435710 | T | TACACACA others(15): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0227 | 1 | 186 | 0.0054 | 22 | c.209 others(39): Show |
CENPS | ENSG00000175279.22 | transcript | ENST00000309048.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CENPT_chr16_67823157_67852693 | 67841010 | C | CATACATA others(15): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03540.hp2 |
a0001a0009 | a0001c0005a0009c0009 | a0001c0005t0001a0009c0009t0001 | a0001c0005t0001g0065 a0009c0009t0001g0071 |
2 | 9 | 0.2222 | 22 | c.-49 others(41): Show |
CENPT | ENSG00000102901.13 | transcript | ENST00000562787.6 | protein_coding | 1/15 | chr16 | TogoVar | |||||||
CENPU_chr4_184689085_184739096 | 184731883 | C | CTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01257.hp1 HG01258.hp2 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0003others(1): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0164 others(10): Show |
15 | 44 | 0.3409 | 22 | c.48- others(35): Show |
CENPU | ENSG00000151725.12 | transcript | ENST00000281453.10 | protein_coding | 1/12 | chr4 | TogoVar | |||||||
CENPX_chr17_82013703_82027878 | 82016640 | G | GAGATCTG others(15): Show |
downstream_gene_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 400 | 0.0025 | 22 | c.*25 others(33): Show |
CENPX | ENSG00000169689.15 | transcript | ENST00000392359.8 | protein_coding | 2062 | chr17 | TogoVar | |||||||
CEP104_chr1_3807086_3862211 | 3825035 | G | GGCAGTGG others(15): Show |
intron_variant | MODIFIER | NA18990.hp1 NA19055.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0040 | a0001c0001t0005g0292 a0001c0001t0040g0313 |
2 | 380 | 0.0053 | 22 | c.236 others(39): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 18/21 | chr1 | TogoVar | |||||||
CEP104_chr1_3807086_3862211 | 3847263 | C | CTGGGCAC others(15): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02559.hp1 |
a0006 | a0006c0008 | a0006c0008t0015 | a0006c0008t0015g0138 a0006c0008t0015g0139 |
2 | 380 | 0.0053 | 22 | c.426 others(37): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 4/21 | chr1 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65654056 | C | CAAAAAAA others(15): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0091 | 1 | 87 | 0.0115 | 22 | c.269 others(43): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 24/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65870069 | G | GAAAGAAA others(15): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0055 | 1 | 110 | 0.0091 | 22 | c.216 others(43): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 20/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 65920362 | A | AATATATA others(15): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02145.hp2 NA18985.hp1 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0001 | a0001c0003t0001g0007 a0002c0001t0001g0051 a0002c0001t0001g0054 |
3 | 9 | 0.3333 | 22 | c.198 others(41): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 19/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66009189 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0005 | 1 | 6 | 0.1667 | 22 | c.165 others(41): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 16/26 | chr17 | TogoVar | |||||||
CEP112_chr17_65630537_66197133 | 66034970 | T | TTGTGTGT others(15): Show |
intron_variant | MODIFIER | HG01517.hp1 HG02572.hp1 HG03017.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 a0001c0002t0001g0057 a0001c0002t0001g0089 |
3 | 89 | 0.0337 | 22 | c.121 others(41): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 12/26 | chr17 | TogoVar |