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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SATL1_chrX_85087284_85248779 | 85088046 | G | GTATTTAT others(419): Show |
downstream_gene_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0081 | 1 | 232 | 0.0043 | 426 | c.*43 others(437): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 4237 | chrX | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85088046 | G | GTATTTAT others(419): Show |
downstream_gene_variant | MODIFIER | NA20752.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0150 | 1 | 232 | 0.0043 | 426 | c.*43 others(437): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 4237 | chrX | TogoVar | |||||||
SATL1_chrX_85087284_85248779 | 85088071 | C | CGTATTAA others(419): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0140 | 1 | 232 | 0.0043 | 426 | c.*43 others(437): Show |
SATL1 | ENSG00000184788.14 | transcript | ENST00000644105.2 | protein_coding | 4212 | chrX | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1288457 | C | CCCCGTGT others(419): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0250 | 1 | 290 | 0.0035 | 426 | c.166 others(443): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SH3BP5_chr3_15249353_15337586 | 15272534 | C | CATTACAA others(419): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0145 | 1 | 376 | 0.0027 | 426 | c.331 others(443): Show |
SH3BP5 | ENSG00000131370.16 | transcript | ENST00000383791.8 | protein_coding | 3/8 | chr3 | TogoVar | |||||||
SIGIRR_chr11_400716_419999 | 401755 | G | GGCTCCAC others(419): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 242 | 0.0041 | 426 | c.*41 others(437): Show |
SIGIRR | ENSG00000185187.13 | transcript | ENST00000431843.7 | protein_coding | 3960 | chr11 | TogoVar | |||||||
SLC24A3_chr20_19207642_19727926 | 19663396 | G | GCCTCCTC others(419): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0017 | 1 | 160 | 0.0063 | 426 | c.688 others(443): Show |
SLC24A3 | ENSG00000185052.13 | transcript | ENST00000328041.11 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC25A12_chr2_171778405_171899244 | 171866626 | C | CGGGCGGG others(419): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0206 | 1 | 314 | 0.0032 | 426 | c.209 others(443): Show |
SLC25A12 | ENSG00000115840.14 | transcript | ENST00000422440.7 | protein_coding | 3/17 | chr2 | TogoVar | |||||||
SLC25A12_chr2_171778405_171899244 | 171866626 | C | CGGGCGGG others(419): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 314 | 0.0032 | 426 | c.209 others(443): Show |
SLC25A12 | ENSG00000115840.14 | transcript | ENST00000422440.7 | protein_coding | 3/17 | chr2 | TogoVar | |||||||
SLC25A12_chr2_171778405_171899244 | 171866626 | C | CGGGCGGG others(419): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0150 | 1 | 314 | 0.0032 | 426 | c.209 others(443): Show |
SLC25A12 | ENSG00000115840.14 | transcript | ENST00000422440.7 | protein_coding | 3/17 | chr2 | TogoVar | |||||||
SLC25A12_chr2_171778405_171899244 | 171866626 | C | CGGGCGGG others(419): Show |
intron_variant | MODIFIER | HG03486.hp1 NA18522.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0006g0218 |
3 | 314 | 0.0096 | 426 | c.209 others(443): Show |
SLC25A12 | ENSG00000115840.14 | transcript | ENST00000422440.7 | protein_coding | 3/17 | chr2 | TogoVar | |||||||
SLC25A12_chr2_171778405_171899244 | 171866626 | C | CGGGCGGG others(419): Show |
intron_variant | MODIFIER | NA19058.hp1 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 a0001c0001t0002g0172 |
2 | 314 | 0.0064 | 426 | c.209 others(443): Show |
SLC25A12 | ENSG00000115840.14 | transcript | ENST00000422440.7 | protein_coding | 3/17 | chr2 | TogoVar | |||||||
SLC25A12_chr2_171778405_171899244 | 171866626 | C | CGGGCGGG others(419): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0170 | 1 | 314 | 0.0032 | 426 | c.209 others(443): Show |
SLC25A12 | ENSG00000115840.14 | transcript | ENST00000422440.7 | protein_coding | 3/17 | chr2 | TogoVar | |||||||
SLC35F1_chr6_117902264_118322671 | 117923737 | A | ATACATAT others(419): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0002 | a0002c0002t0053 | a0002c0002t0053g0180 | 1 | 182 | 0.0055 | 426 | c.173 others(445): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SPATC1L_chr21_46156160_46189459 | 46161029 | A | AAGGGGAA others(419): Show |
downstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0128 | 1 | 251 | 0.0040 | 426 | c.*34 others(435): Show |
SPATC1L | ENSG00000160284.15 | transcript | ENST00000291672.6 | protein_coding | 130 | chr21 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89852289 | C | CCCCCCAC others(419): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 356 | 0.0028 | 426 | c.645 others(443): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | chr16 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(419): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0160 | 1 | 276 | 0.0036 | 426 | c.-18 others(445): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(419): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0113 | a0001c0001t0113g0036 | 1 | 276 | 0.0036 | 426 | c.-18 others(445): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(419): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0174 | 1 | 276 | 0.0036 | 426 | c.-18 others(445): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202672766 | A | AGAGGGAG others(419): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0004 | 1 | 276 | 0.0036 | 426 | c.-18 others(445): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
TBC1D22A_chr22_46757650_47180693 | 46772316 | T | TACACATA others(419): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 112 | 0.0089 | 426 | c.62+ others(441): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TBC1D22A_chr22_46757650_47180693 | 46772316 | T | TACACATA others(419): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0004 | a0001c0004t0022 | a0001c0004t0022g0033 | 1 | 112 | 0.0089 | 426 | c.62+ others(441): Show |
TBC1D22A | ENSG00000054611.14 | transcript | ENST00000337137.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1272805 | G | GCCATCCA others(419): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0370 a0001c0007t0001g0371 |
2 | 392 | 0.0051 | 426 | c.228 others(443): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TFDP1_chr13_113579753_113646473 | 113625266 | G | GTCCTCAG others(419): Show |
intron_variant | MODIFIER | HG00099.hp1 HG02735.hp2 HG03669.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 a0001c0001t0001g0220 a0001c0001t0001g0223 others(1): Show |
4 | 348 | 0.0115 | 426 | c.186 others(443): Show |
TFDP1 | ENSG00000198176.13 | transcript | ENST00000375370.10 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
THBS2_chr6_169210785_169258846 | 169242951 | C | CCCACCGC others(419): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0008 | a0008c0026 | a0008c0026t0001 | a0008c0026t0001g0204 | 1 | 396 | 0.0025 | 426 | c.695 others(441): Show |
THBS2 | ENSG00000186340.17 | transcript | ENST00000617924.6 | protein_coding | 4/21 | chr6 | TogoVar | |||||||
TMEM88B_chr1_1420871_1435255 | 1428000 | A | AGGGGAGG others(419): Show |
3_prime_UTR_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 4 | 0.2500 | 426 | c.*24 others(435): Show |
TMEM88B | ENSG00000205116.4 | transcript | ENST00000378821.4 | protein_coding | 2/2 | 248 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TRIM28_chr19_58539064_58555715 | 58541463 | C | CACCCTGC others(419): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02280.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0009 | 6 | 402 | 0.0149 | 426 | c.-32 others(437): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 2600 | chr19 | TogoVar | |||||||
TRIM28_chr19_58539064_58555715 | 58541463 | C | CACCCTGC others(419): Show |
upstream_gene_variant | MODIFIER | HG00733.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 402 | 0.0025 | 426 | c.-32 others(437): Show |
TRIM28 | ENSG00000130726.12 | transcript | ENST00000253024.10 | protein_coding | 2600 | chr19 | TogoVar | |||||||
TRMO_chr9_97899489_97927500 | 97913251 | T | TAATCATT others(419): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02015.hp1 HG02976.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0025 a0002c0002t0002g0054 |
3 | 374 | 0.0080 | 426 | c.409 others(441): Show |
TRMO | ENSG00000136932.15 | transcript | ENST00000375119.8 | protein_coding | 3/4 | chr9 | TogoVar | |||||||
TRMO_chr9_97899489_97927500 | 97913251 | T | TAATCATT others(419): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0087 | 1 | 374 | 0.0027 | 426 | c.409 others(441): Show |
TRMO | ENSG00000136932.15 | transcript | ENST00000375119.8 | protein_coding | 3/4 | chr9 | TogoVar | |||||||
TTC16_chr9_127711079_127736590 | 127720831 | T | TTCCCCCT others(419): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0013 | a0013c0016 | a0013c0016t0001 | a0013c0016t0001g0229 | 1 | 334 | 0.0030 | 426 | c.657 others(441): Show |
TTC16 | ENSG00000167094.16 | transcript | ENST00000373289.4 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870178 | A | ACACACAC others(419): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 338 | 0.0030 | 426 | c.*35 others(445): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870189 | A | ACCCCATA others(419): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0201 | 1 | 338 | 0.0030 | 426 | c.*35 others(445): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870989 | A | ACCCCACA others(419): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 338 | 0.0030 | 426 | c.*35 others(445): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917309 | G | GGGCTTGG others(419): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 344 | 0.0029 | 426 | c.218 others(443): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | chr12 | TogoVar | |||||||
WDR87_chr19_37879823_37911594 | 37881138 | T | TATAATAT others(419): Show |
downstream_gene_variant | MODIFIER | NA18969.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0178 | 1 | 330 | 0.0030 | 426 | c.*37 others(437): Show |
WDR87 | ENSG00000171804.11 | transcript | ENST00000447313.7 | protein_coding | 3684 | chr19 | TogoVar | |||||||
ZC3H12B_chrX_65029826_65512887 | 65450478 | T | TATATATG others(419): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02717.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0163 a0001c0001t0002g0164 a0001c0001t0005g0143 |
3 | 165 | 0.0182 | 426 | c.-15 others(447): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ZNF365_chr10_62369369_62407450 | 62370782 | C | CATCATAT others(419): Show |
upstream_gene_variant | MODIFIER | NA18979.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 350 | 0.0029 | 426 | c.-36 others(437): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3586 | chr10 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370782 | C | CATCATAT others(419): Show |
upstream_gene_variant | MODIFIER | NA19007.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0054 | 1 | 350 | 0.0029 | 426 | c.-36 others(437): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3586 | chr10 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370782 | C | CATCATAT others(419): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0087 | 1 | 350 | 0.0029 | 426 | c.-36 others(437): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3586 | chr10 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370782 | C | CATCATAT others(419): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 350 | 0.0029 | 426 | c.-36 others(437): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3586 | chr10 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370841 | C | CATATATC others(419): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 350 | 0.0029 | 426 | c.-36 others(437): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3527 | chr10 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370841 | C | CATATATC others(419): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 350 | 0.0029 | 426 | c.-36 others(437): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3527 | chr10 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370962 | C | CATATGTG others(419): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0003 | 1 | 350 | 0.0029 | 426 | c.-35 others(437): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3406 | chr10 | TogoVar | |||||||
ZNF365_chr10_62369369_62407450 | 62370969 | G | GATATATA others(419): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 350 | 0.0029 | 426 | c.-35 others(437): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3399 | chr10 | TogoVar | |||||||
ZNF516_chr18_76352682_76500242 | 76401788 | C | CCCCCGCG others(419): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01261.hp2 NA18949.hp1 others(3): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0002a0001c0001t0005a0001c0001t0012others(3): Show | a0001c0001t0002g0115 a0001c0001t0005g0288 a0001c0001t0012g0213 others(3): Show |
6 | 346 | 0.0173 | 426 | c.181 others(447): Show |
ZNF516 | ENSG00000101493.11 | transcript | ENST00000443185.7 | protein_coding | 3/6 | chr18 | TogoVar | |||||||
ZNF543_chr19_57315472_57335770 | 57327461 | C | CAGCCTCC others(419): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00423.hp2 others(111): Show |
a0002a0011a0012others(2): Show | a0002c0002a0002c0010a0002c0014others(4): Show | a0002c0002t0002a0002c0002t0013a0002c0002t0015others(9): Show | a0002c0002t0002g0001 a0002c0002t0002g0011 a0002c0002t0002g0014 others(26): Show |
114 | 460 | 0.2478 | 426 | c.242 others(441): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF543_chr19_57315472_57335770 | 57327475 | G | GCTGGATT others(419): Show |
intron_variant | MODIFIER | NA19077.hp1 | a0016 | a0016c0018 | a0016c0018t0001 | a0016c0018t0001g0117 | 1 | 460 | 0.0022 | 426 | c.242 others(441): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF543_chr19_57315472_57335770 | 57327475 | G | GCTGGGAT others(419): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00423.hp1 others(172): Show |
a0002a0003a0004others(6): Show | a0002c0002a0002c0009a0003c0003others(8): Show | a0002c0002t0002a0002c0009t0020a0002c0009t0040others(30): Show | a0002c0002t0002g0022 a0002c0009t0020g0079 a0002c0009t0020g0080 others(85): Show |
175 | 460 | 0.3804 | 426 | c.242 others(441): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF543_chr19_57315472_57335770 | 57327475 | G | GCTGGGAT others(419): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02615.hp1 HG02622.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0044a0002c0002t0046 | a0002c0002t0009g0023 a0002c0002t0009g0039 a0002c0002t0044g0084 others(1): Show |
7 | 460 | 0.0152 | 426 | c.242 others(441): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |