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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DNAH17_chr17_78418697_78582396 | 78438432 | A | AGGGAGGA others(747): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0057 | a0057c0176 | a0057c0176t0002 | a0057c0176t0002g0222 | 1 | 252 | 0.0040 | 754 | c.118 others(773): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63492159 | T | TGGATAGG others(747): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02809.hp1 HG02976.hp2 |
a0001a0002 | a0001c0001a0002c0010 | a0001c0001t0001a0002c0010t0001 | a0001c0001t0001g0162 a0001c0001t0001g0163 a0002c0010t0001g0164 |
3 | 374 | 0.0080 | 754 | c.772 others(769): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 5/7 | chr20 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328653 | T | TACACGGG others(747): Show |
intron_variant | MODIFIER | HG00423.hp2 HG04204.hp1 NA18999.hp2 |
a0001a0003a0032 | a0001c0001a0003c0003a0032c0025 | a0001c0001t0001a0003c0003t0001a0032c0025t0001 | a0001c0001t0001g0010 a0003c0003t0001g0073 a0032c0025t0001g0033 |
3 | 82 | 0.0366 | 754 | c.199 others(773): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137329795 | G | GGCTACAC others(747): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028 | 1 | 82 | 0.0122 | 754 | c.199 others(773): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355621 | G | GGAGGAAG others(747): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 82 | 0.0122 | 754 | c.757 others(769): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
EXPH5_chr11_108500435_108598768 | 108586505 | T | TCCCCCAT others(747): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0007 | a0007c0007 | a0007c0007t0012 | a0007c0007t0012g0025 | 1 | 314 | 0.0032 | 754 | c.119 others(771): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
EXPH5_chr11_108500435_108598768 | 108586505 | T | TCCCCCAT others(747): Show |
intron_variant | MODIFIER | HG01175.hp2 HG03209.hp2 |
a0021a0025 | a0021c0018a0025c0032 | a0021c0018t0019a0025c0032t0001 | a0021c0018t0019g0023 a0025c0032t0001g0024 |
2 | 314 | 0.0064 | 754 | c.119 others(771): Show |
EXPH5 | ENSG00000110723.12 | transcript | ENST00000265843.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241806154 | A | ACCCTCCC others(747): Show |
downstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 314 | 0.0032 | 754 | c.*19 others(765): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1868 | chr2 | TogoVar | |||||||
GFPT2_chr5_180295698_180358336 | 180299952 | T | TGTGATAC others(747): Show |
downstream_gene_variant | MODIFIER | HG02083.hp1 NA18964.hp2 NA19060.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0011 a0001c0004t0001g0171 a0001c0004t0001g0235 |
4 | 412 | 0.0097 | 754 | c.*16 others(765): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 745 | chr5 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTTGTGAT others(747): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 397 | 0.0025 | 754 | c.*50 others(765): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
GRK4_chr4_2958571_3045760 | 2961219 | T | TAGTAACT others(747): Show |
upstream_gene_variant | MODIFIER | NA18948.hp1 | a0011 | a0011c0016 | a0011c0016t0002 | a0011c0016t0002g0258 | 1 | 268 | 0.0037 | 754 | c.-28 others(765): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2351 | chr4 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 322517 | G | GAAAAGAA others(747): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0095 | 1 | 155 | 0.0065 | 754 | c.-37 others(765): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3722 | chrX | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322915 | A | ATATATGG others(747): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 HG01978.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 a0001c0001t0001g0166 |
2 | 323 | 0.0062 | 754 | c.-21 others(765): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2054 | chr21 | TogoVar | |||||||
IGSF9B_chr11_133891438_133961968 | 133932722 | A | ACAGACAG others(747): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0240 | 1 | 362 | 0.0028 | 754 | c.968 others(769): Show |
IGSF9B | ENSG00000080854.16 | transcript | ENST00000533871.8 | protein_coding | 7/19 | chr11 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132622895 | C | CGTTCGTG others(747): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 204 | 0.0049 | 754 | c.117 others(773): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(747): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096 | 1 | 204 | 0.0049 | 754 | c.978 others(771): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
INS_chr11_2154779_2166209 | 2161578 | A | AGACCCCT others(747): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 376 | 0.0027 | 754 | c.-42 others(763): Show |
INS | ENSG00000254647.7 | transcript | ENST00000381330.5 | protein_coding | 370 | chr11 | TogoVar | |||||||
IQCB1_chr3_121764761_121840060 | 121786167 | T | TAAGAAAG others(747): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0140 | 1 | 308 | 0.0033 | 754 | c.127 others(773): Show |
IQCB1 | ENSG00000173226.17 | transcript | ENST00000310864.11 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
KIAA0930_chr22_45187244_45245894 | 45228775 | C | CCCCCAAC others(747): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0144 | 1 | 398 | 0.0025 | 754 | c.64+ others(771): Show |
KIAA0930 | ENSG00000100364.19 | transcript | ENST00000336156.10 | protein_coding | 1/9 | chr22 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124471657 | A | ATATATTT others(747): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 260 | 0.0039 | 754 | c.125 others(771): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256763 | A | ATATATAG others(747): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 2 | 422 | 0.0047 | 754 | c.-29 others(765): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2923 | chr1 | TogoVar | |||||||
LRRC14_chr8_144512992_144530172 | 144513800 | T | TGAGGAGG others(747): Show |
upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0004 | 1 | 414 | 0.0024 | 754 | c.-43 others(765): Show |
LRRC14 | ENSG00000160959.8 | transcript | ENST00000292524.6 | protein_coding | 4191 | chr8 | TogoVar | |||||||
MFSD3_chr8_144504070_144516213 | 144513800 | T | TGAGGAGG others(747): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 400 | 0.0025 | 754 | c.*26 others(765): Show |
MFSD3 | ENSG00000167700.9 | transcript | ENST00000301327.5 | protein_coding | 2588 | chr8 | TogoVar | |||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(747): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00738.hp1 HG02040.hp2 others(5): Show |
a0001a0002a0017 | a0001c0003a0001c0009a0001c0030others(3): Show | a0001c0003t0001a0001c0003t0033a0001c0009t0007others(4): Show | a0001c0003t0001g0182 a0001c0003t0001g0207 a0001c0003t0033g0052 others(5): Show |
8 | 278 | 0.0288 | 754 | c.115 others(771): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(747): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0115 | 1 | 278 | 0.0036 | 754 | c.115 others(771): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(747): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0002 | a0002c0013 | a0002c0013t0003 | a0002c0013t0003g0110 | 1 | 278 | 0.0036 | 754 | c.115 others(771): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(747): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp1 HG00741.hp1 others(16): Show |
a0001a0002a0003 | a0001c0003a0002c0005a0002c0017others(2): Show | a0001c0003t0001a0001c0003t0024a0001c0003t0028others(4): Show | a0001c0003t0001g0016 a0001c0003t0001g0020 a0001c0003t0001g0043 others(16): Show |
19 | 278 | 0.0684 | 754 | c.115 others(771): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(747): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0256 | 1 | 278 | 0.0036 | 754 | c.115 others(771): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(747): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01243.hp2 HG02015.hp2 others(16): Show |
a0001a0002a0011 | a0001c0001a0001c0008a0001c0023others(4): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0035others(7): Show | a0001c0001t0003g0026 a0001c0001t0003g0033 a0001c0001t0007g0234 others(16): Show |
19 | 278 | 0.0684 | 754 | c.115 others(771): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(747): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0002 | a0002c0002 | a0002c0002t0032 | a0002c0002t0032g0260 | 1 | 278 | 0.0036 | 754 | c.115 others(771): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(747): Show |
intron_variant | MODIFIER | HG06807.hp1 NA18522.hp1 NA18906.hp1 |
a0003a0053a0054 | a0003c0004a0053c0070a0054c0054 | a0003c0004t0002a0053c0070t0002a0054c0054t0002 | a0003c0004t0002g0139 a0053c0070t0002g0161 a0054c0054t0002g0160 |
3 | 280 | 0.0107 | 754 | c.641 others(769): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(747): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0077 | 1 | 140 | 0.0071 | 754 | c.114 others(773): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MRPL28_chr16_361969_375538 | 370338 | G | GCTATCCC others(747): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0056 | 1 | 394 | 0.0025 | 754 | c.-7- others(767): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(747): Show |
intron_variant | MODIFIER | NA19062.hp1 NA19087.hp1 |
a0001a0006 | a0001c0002a0006c0009 | a0001c0002t0008a0006c0009t0007 | a0001c0002t0008g0114 a0006c0009t0007g0067 |
2 | 326 | 0.0061 | 754 | c.358 others(771): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(747): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0006 | a0006c0009 | a0006c0009t0007 | a0006c0009t0007g0019 | 1 | 326 | 0.0031 | 754 | c.358 others(771): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(747): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0006 | a0006c0009 | a0006c0009t0007 | a0006c0009t0007g0069 | 1 | 326 | 0.0031 | 754 | c.358 others(771): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MUSK_chr9_110663791_110811558 | 110690451 | A | AATATATA others(747): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0018 | a0001c0018t0025 | a0001c0018t0025g0181 | 1 | 326 | 0.0031 | 754 | c.358 others(771): Show |
MUSK | ENSG00000030304.15 | transcript | ENST00000374448.9 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NME4_chr16_392199_405754 | 397709 | T | TGAGGGAG others(747): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0006 | a0006c0011 | a0006c0011t0004 | a0006c0011t0004g0284 | 1 | 356 | 0.0028 | 754 | c.91+ others(767): Show |
NME4 | ENSG00000103202.13 | transcript | ENST00000219479.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
NOP14_chr4_2932936_2968406 | 2961219 | T | TAGTAACT others(747): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0271 | 1 | 422 | 0.0024 | 754 | c.195 others(771): Show |
NOP14 | ENSG00000087269.16 | transcript | ENST00000416614.7 | protein_coding | 1/17 | chr4 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(747): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 456 | 0.0022 | 754 | c.*31 others(765): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(747): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG02647.hp1 HG03225.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 6 | 456 | 0.0132 | 754 | c.*31 others(765): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
PGAP6_chr16_365788_386978 | 370338 | G | GCTATCCC others(747): Show |
downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0013 | 1 | 376 | 0.0027 | 754 | c.*16 others(765): Show |
PGAP6 | ENSG00000129925.11 | transcript | ENST00000431232.7 | protein_coding | 449 | chr16 | TogoVar | |||||||
PKP3_chr11_389209_409908 | 398691 | G | GTCACCTC others(747): Show |
intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 216 | 0.0046 | 754 | c.106 others(771): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PLXNB2_chr22_50269979_50312646 | 50276322 | G | GCAGGGAG others(747): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0004 | a0004c0082 | a0004c0082t0002 | a0004c0082t0002g0238 | 1 | 302 | 0.0033 | 754 | c.533 others(771): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50276351 | A | AGGGTGCA others(747): Show |
intron_variant | MODIFIER | HG02683.hp1 HG03017.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0142 a0001c0002t0002g0231 |
2 | 302 | 0.0066 | 754 | c.533 others(771): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | |||||||
PLXNB2_chr22_50269979_50312646 | 50276351 | A | AGGGTGCA others(747): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0082 | 1 | 302 | 0.0033 | 754 | c.533 others(771): Show |
PLXNB2 | ENSG00000196576.16 | transcript | ENST00000359337.9 | protein_coding | 35/36 | chr22 | TogoVar | |||||||
PRKCZ_chr1_2045411_2190395 | 2124289 | A | AGGGTCAT others(747): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0283 | 1 | 286 | 0.0035 | 754 | c.335 others(773): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PTPRT_chr20_42067756_43194906 | 43068103 | G | GGAGGGAG others(747): Show |
intron_variant | MODIFIER | HG02809.hp1 HG02976.hp2 |
a0001a0009 | a0001c0002a0009c0019 | a0001c0002t0006a0009c0019t0008 | a0001c0002t0006g0039 a0009c0019t0008g0050 |
2 | 62 | 0.0323 | 754 | c.88+ others(773): Show |
PTPRT | ENSG00000196090.14 | transcript | ENST00000373187.6 | protein_coding | 1/30 | chr20 | TogoVar | |||||||
PWWP2B_chr10_132392200_132422859 | 132392564 | G | GTGATGAT others(747): Show |
upstream_gene_variant | MODIFIER | NA19091.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0042 | 1 | 374 | 0.0027 | 754 | c.-46 others(765): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4635 | chr10 | TogoVar | |||||||
PWWP2B_chr10_132392200_132422859 | 132392588 | G | GTGGTGGT others(747): Show |
upstream_gene_variant | MODIFIER | NA19077.hp1 | a0015 | a0015c0019 | a0015c0019t0001 | a0015c0019t0001g0001 | 1 | 374 | 0.0027 | 754 | c.-46 others(765): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4611 | chr10 | TogoVar |