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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DOCK8_chr9_209865_470255 | 400975 | C | CACCACCA others(857): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0023 | a0023c0082 | a0023c0082t0001 | a0023c0082t0001g0082 | 1 | 155 | 0.0065 | 864 | c.323 others(883): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(857): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 181 | 0.0055 | 864 | c.*14 others(875): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486901 | A | ACCCTGAC others(857): Show |
downstream_gene_variant | MODIFIER | NA18943.hp1 NA19010.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0003t0001g0004 |
2 | 338 | 0.0059 | 864 | c.*13 others(875): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1112 | chr20 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486901 | A | ACCCTGAC others(857): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 337 | 0.0030 | 864 | c.*13 others(875): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1112 | chr20 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3221418 | A | ACACTCAC others(857): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 132 | 0.0076 | 864 | c.417 others(881): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3221526 | A | ACACTCAC others(857): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 60 | 0.0167 | 864 | c.417 others(881): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
EP400_chr12_131944942_132085460 | 131998636 | T | TCTTTGTA others(857): Show |
intron_variant | MODIFIER | NA19080.hp2 NA19084.hp2 |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0097 a0002c0001t0001g0081 |
2 | 75 | 0.0267 | 864 | c.282 others(883): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 131998690 | A | ACTTTGTA others(857): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0019 | a0019c0043 | a0019c0043t0001 | a0019c0043t0001g0113 | 1 | 206 | 0.0049 | 864 | c.282 others(883): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 131998879 | A | ACTTTGTA others(857): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01192.hp2 HG02630.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0001a0003c0064others(1): Show | a0001c0002t0001a0002c0001t0001a0003c0064t0006others(1): Show | a0001c0002t0001g0090 a0001c0002t0001g0096 a0001c0002t0001g0148 others(4): Show |
7 | 147 | 0.0476 | 864 | c.282 others(883): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137329803 | G | GGGACTAC others(857): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0027 | a0027c0017 | a0027c0017t0001 | a0027c0017t0001g0007 | 1 | 33 | 0.0303 | 864 | c.199 others(883): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60861204 | T | TATATATG others(857): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 23 | 0.0435 | 864 | c.-11 others(885): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113817356 | A | ACACATAC others(857): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 | a0004 | a0004c0014 | a0004c0014t0003 | a0004c0014t0003g0002 | 1 | 142 | 0.0070 | 864 | c.*35 others(875): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3192 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113824127 | A | ACCCGCGG others(857): Show |
intron_variant | MODIFIER | HG01496.hp1 HG03579.hp2 |
a0001a0003 | a0001c0002a0003c0009 | a0001c0002t0001a0003c0009t0001 | a0001c0002t0001g0140 a0003c0009t0001g0124 |
2 | 142 | 0.0141 | 864 | c.147 others(881): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113824128 | C | CCTGCGGT others(857): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0125 | 1 | 123 | 0.0081 | 864 | c.147 others(881): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113824415 | C | CGCGCGGT others(857): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 |
a0001 | a0001c0002a0001c0013 | a0001c0002t0001a0001c0013t0001 | a0001c0002t0001g0030 a0001c0013t0001g0075 |
2 | 80 | 0.0250 | 864 | c.147 others(881): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(857): Show |
upstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 62 | 0.0161 | 864 | c.-21 others(875): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
IL17REL_chr22_49986811_50017765 | 50009894 | T | TGGCGGCA others(857): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01069.hp2 HG01071.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025a0001c0001t0044 | a0001c0001t0001g0147 a0001c0001t0025g0148 a0001c0001t0025g0149 others(1): Show |
4 | 106 | 0.0377 | 864 | c.103 others(881): Show |
IL17REL | ENSG00000188263.11 | transcript | ENST00000695950.1 | protein_coding | 1/14 | chr22 | TogoVar | |||||||
INPP5A_chr10_132532787_132788480 | 132775189 | G | GGGCAGGG others(857): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0194 | 1 | 201 | 0.0050 | 864 | c.978 others(881): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
IQCJ_chr3_159064319_159268747 | 159229707 | C | CCTCCTCC others(857): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 11 | 0.0909 | 864 | c.10- others(881): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
JUND_chr19_18274694_18286622 | 18284518 | A | AAAAATAA others(857): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 395 | 0.0025 | 864 | c.-30 others(875): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2897 | chr19 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18284518 | A | AAAAATAA others(857): Show |
upstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0000 | 1 | 395 | 0.0025 | 864 | c.-30 others(875): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2897 | chr19 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18284520 | A | AAATAATA others(857): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 NA19000.hp1 NA19007.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 4 | 191 | 0.0209 | 864 | c.-30 others(875): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | |||||||
JUND_chr19_18274694_18286622 | 18284520 | A | AAATAATA others(857): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00609.hp1 others(34): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(1): Show | a0001c0001t0002g0000 a0001c0001t0005g0000 a0001c0001t0010g0000 others(1): Show |
37 | 224 | 0.1652 | 864 | c.-30 others(875): Show |
JUND | ENSG00000130522.6 | transcript | ENST00000252818.5 | protein_coding | 2899 | chr19 | TogoVar | |||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(857): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 5 | 0.2000 | 864 | c.-41 others(879): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
KDM2B_chr12_121424096_121586023 | 121514897 | C | CACCCCCA others(857): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 a0001c0001t0002g0096 |
2 | 232 | 0.0086 | 864 | c.104 others(883): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KDM2B_chr12_121424096_121586023 | 121514897 | C | CACCCCCA others(857): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122 | 1 | 231 | 0.0043 | 864 | c.104 others(883): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
KIF25_chr6_167992671_168050091 | 167997395 | A | ATCTGCAG others(857): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0003 | a0001c0003t0026 | a0001c0003t0026g0233 | 1 | 313 | 0.0032 | 864 | c.-20 others(875): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 275 | chr6 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(857): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 77 | 0.0130 | 864 | c.-27 others(875): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(857): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0009 | 1 | 77 | 0.0130 | 864 | c.-27 others(875): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(857): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0223 | 1 | 207 | 0.0048 | 864 | c.126 others(881): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
LRCH3_chr3_197786254_197893436 | 197877547 | C | CTCACCGC others(857): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0117 | 1 | 242 | 0.0041 | 864 | c.220 others(883): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRCH3_chr3_197786254_197893436 | 197877547 | C | CTCACCGC others(857): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0054 | a0001c0001t0014g0165 a0001c0001t0054g0154 |
2 | 243 | 0.0082 | 864 | c.220 others(883): Show |
LRCH3 | ENSG00000186001.14 | transcript | ENST00000425562.7 | protein_coding | 20/20 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LRP8_chr1_53237364_53333070 | 53284196 | T | TACTTACC others(857): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0124 | 1 | 219 | 0.0046 | 864 | c.368 others(881): Show |
LRP8 | ENSG00000157193.18 | transcript | ENST00000306052.12 | protein_coding | 3/18 | chr1 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877184 | A | AGTTATGG others(857): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 132 | 0.0076 | 864 | c.224 others(883): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877441 | G | GGGAAGTT others(857): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208 | 1 | 264 | 0.0038 | 864 | c.224 others(883): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(857): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 4 | 0.2500 | 864 | c.114 others(883): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(857): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0161 | 1 | 210 | 0.0048 | 864 | c.-5+ others(879): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(857): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0295 | 1 | 210 | 0.0048 | 864 | c.-5+ others(879): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(857): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0286 | 1 | 210 | 0.0048 | 864 | c.-5+ others(879): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(857): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0294 | 1 | 210 | 0.0048 | 864 | c.-5+ others(879): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195783599 | T | TGGTGACA others(857): Show |
conservative_inframe_insertion | MODERATE | HG01433.hp2 | a0044 | a0044c0147 | a0044c0147t0003 | a0044c0147t0003g0208 | 1 | 117 | 0.0085 | 864 | c.798 others(873): Show |
p.Thr others(879): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8092/16756 | 7980/16239 | 2660/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783599 | T | TGGTGACA others(857): Show |
conservative_inframe_insertion | MODERATE | HG00099.hp1 HG02615.hp2 |
a0026a0071 | a0026c0048a0071c0117 | a0026c0048t0001a0071c0117t0004 | a0026c0048t0001g0096 a0071c0117t0004g0231 |
2 | 118 | 0.0169 | 864 | c.798 others(873): Show |
p.Thr others(879): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8092/16756 | 7980/16239 | 2660/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195784498 | A | ACTGAGGA others(857): Show |
conservative_inframe_insertion | MODERATE | HG02895.hp2 HG03688.hp2 HG03942.hp2 |
a0022a0079 | a0022c0020a0079c0133 | a0022c0020t0001a0079c0133t0001 | a0022c0020t0001g0028 a0022c0020t0001g0093 a0079c0133t0001g0016 |
3 | 125 | 0.0240 | 864 | c.708 others(873): Show |
p.Ser others(879): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 7193/16756 | 7081/16239 | 2361/5412 | chr3 | TogoVar | |||
MYT1L_chr2_1784113_2336275 | 1861913 | T | TGGATCTG others(857): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0017 | 1 | 96 | 0.0104 | 864 | c.271 others(885): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 18/24 | chr2 | TogoVar | |||||||
NCAN_chr19_19206958_19257233 | 19211002 | C | CGGTGGCT others(857): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG02258.hp2 HG02486.hp2 others(11): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0005t0002 | a0001c0002t0002g0008 a0001c0002t0002g0042 a0001c0002t0002g0056 others(10): Show |
14 | 183 | 0.0765 | 864 | c.-10 others(875): Show |
NCAN | ENSG00000130287.14 | transcript | ENST00000252575.11 | protein_coding | 955 | chr19 | TogoVar | |||||||
NRDC_chr1_51784210_51883727 | 51852550 | G | GTTTTAAA others(857): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0072 | 1 | 38 | 0.0263 | 864 | c.342 others(883): Show |
NRDC | ENSG00000078618.23 | transcript | ENST00000352171.12 | protein_coding | 1/30 | chr1 | TogoVar | |||||||
NRXN3_chr14_78165373_79873291 | 79257520 | G | GTGGTGGT others(857): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0020 | 1 | 10 | 0.1000 | 864 | c.326 others(887): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NRXN3_chr14_78165373_79873291 | 79257563 | T | TGGTGGTG others(857): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0002 | 1 | 23 | 0.0435 | 864 | c.326 others(887): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56739527 | A | ACTCCCCC others(857): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0291 | 1 | 346 | 0.0029 | 864 | c.-14 others(881): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PKP3_chr11_389209_409908 | 398212 | C | CCCCGCAC others(857): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0095 | 1 | 211 | 0.0047 | 864 | c.106 others(881): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |