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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(1830): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 2 | 0.5000 | 1837 | c.44- others(1850): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EVC2_chr4_5557439_5713559 | 5706433 | G | GATAGATA others(1830): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0091 | 1 | 256 | 0.0039 | 1837 | c.228 others(1854): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
GPIHBP1_chr8_143208218_143222170 | 143218244 | C | CAACACCA others(1830): Show |
downstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0004 | 1 | 31 | 0.0323 | 1837 | c.*27 others(1848): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1075 | chr8 | TogoVar | |||||||
ITGA3_chr17_50051110_50095481 | 50086098 | A | ATTATGTA others(1830): Show |
intron_variant | MODIFIER | HG02080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 210 | 0.0048 | 1837 | c.292 others(1856): Show |
ITGA3 | ENSG00000005884.18 | transcript | ENST00000320031.13 | protein_coding | 23/25 | chr17 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241115851 | C | CAGGGGCC others(1830): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0012 | a0012c0065 | a0012c0065t0002 | a0012c0065t0002g0245 | 1 | 334 | 0.0030 | 1837 | c.307 others(1854): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1830): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 146 | 0.0068 | 1837 | c.114 others(1854): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1164255 | C | CCCTGGCA others(1831): Show |
intron_variant | MODIFIER | HG02280.hp2 HG06807.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0008a0001c0002t0011a0001c0004t0037 | a0001c0001t0008g0019 a0001c0002t0011g0108 a0001c0004t0037g0016 |
3 | 67 | 0.0448 | 1838 | c.61+ others(1855): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TCCCCTCC others(1831): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0135 | 1 | 72 | 0.0139 | 1838 | c.273 others(1855): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(1831): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 103 | 0.0097 | 1838 | c.300 others(1855): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45500921 | T | TGTTGGGT others(1831): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0125 | 1 | 236 | 0.0042 | 1838 | c.268 others(1857): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(1831): Show |
downstream_gene_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0002 | a0002c0002t0021 | a0002c0002t0021g0107 | 1 | 69 | 0.0145 | 1838 | c.*52 others(1849): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29558712 | C | CCACCTCT others(1831): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0003 | a0003c0014 | a0003c0014t0002 | a0003c0014t0002g0067 | 1 | 124 | 0.0081 | 1838 | c.219 others(1857): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355619 | A | ACGGAGGA others(1831): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0028 | 1 | 71 | 0.0141 | 1838 | c.757 others(1853): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
GRID2_chr4_92298966_93779566 | 92649037 | T | TCATAAGC others(1831): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02615.hp2 HG02698.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0004g0031 others(3): Show |
6 | 33 | 0.1818 | 1838 | c.244 others(1857): Show |
GRID2 | ENSG00000152208.13 | transcript | ENST00000282020.9 | protein_coding | 2/15 | chr4 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322715 | A | ACGGAATA others(1831): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0246 | 1 | 262 | 0.0038 | 1838 | c.-23 others(1849): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2254 | chr21 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TCCCCTCC others(1831): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0103 | a0001c0001t0103g0090 | 1 | 124 | 0.0081 | 1838 | c.*65 others(1849): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(1831): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0063 | 1 | 95 | 0.0105 | 1838 | c.*11 others(1859): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1831): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0058 a0001c0001t0003g0062 |
2 | 6 | 0.3333 | 1838 | c.189 others(1857): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1831): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0072 a0001c0001t0001g0117 a0001c0001t0002g0005 |
3 | 7 | 0.4286 | 1838 | c.189 others(1857): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SUPV3L1_chr10_69175234_69214093 | 69213563 | A | AAGGCCAC others(1831): Show |
downstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0050 | 1 | 322 | 0.0031 | 1838 | c.*45 others(1849): Show |
SUPV3L1 | ENSG00000156502.14 | transcript | ENST00000359655.9 | protein_coding | 4471 | chr10 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747773 | G | GCACTGGG others(1831): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0114 | 1 | 266 | 0.0038 | 1838 | c.189 others(1853): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238871147 | A | ATACACAC others(1831): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 35 | 0.0286 | 1838 | c.*35 others(1857): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
DACH2_chrX_86143451_86837602 | 86526779 | T | TAGAAATG others(1832): Show |
intron_variant | MODIFIER | NA18959.hp1 NA19058.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0160 a0001c0001t0002g0033 |
2 | 143 | 0.0140 | 1839 | c.640 others(1858): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399562 | C | CCACCACC others(1832): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0104 | 1 | 297 | 0.0034 | 1839 | c.-25 others(1856): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173044 | C | CCTCTCCT others(1832): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0009 | a0009c0049 | a0009c0049t0010 | a0009c0049t0010g0036 | 1 | 117 | 0.0085 | 1839 | c.*11 others(1860): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173084 | T | TCTCTCTC others(1832): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0048 | a0001c0048t0012 | a0001c0048t0012g0100 | 1 | 142 | 0.0070 | 1839 | c.*11 others(1860): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507010 | T | TGCAGGGG others(1832): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 226 | 0.0044 | 1839 | c.624 others(1856): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1832): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 HG02630.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 6 | 13 | 0.4615 | 1839 | c.-20 others(1850): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
DACH2_chrX_86143451_86837602 | 86526779 | T | TAGAAATG others(1833): Show |
intron_variant | MODIFIER | HG02735.hp1 HG03654.hp1 NA18943.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0071 others(12): Show |
15 | 156 | 0.0962 | 1840 | c.640 others(1859): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DACH2_chrX_86143451_86837602 | 86526779 | T | TAGAAATG others(1833): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 | 1 | 142 | 0.0070 | 1840 | c.640 others(1859): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DACH2_chrX_86143451_86837602 | 86526779 | T | TAGAAATG others(1833): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02723.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0128 a0001c0001t0001g0163 others(3): Show |
6 | 147 | 0.0408 | 1840 | c.640 others(1859): Show |
DACH2 | ENSG00000126733.22 | transcript | ENST00000373125.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507825 | A | AGGGTAGA others(1833): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 39 | 0.0256 | 1840 | c.625 others(1857): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136535833 | A | AGGGGGGA others(1833): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0002 | a0002c0010 | a0002c0010t0002 | a0002c0010t0002g0156 | 1 | 285 | 0.0035 | 1840 | c.140 others(1857): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | |||||||
OR11H4_chr14_20234286_20249349 | 20237775 | A | ATAGTATA others(1833): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 278 | 0.0036 | 1840 | c.-15 others(1851): Show |
OR11H4 | ENSG00000176198.4 | transcript | ENST00000641082.1 | protein_coding | 1510 | chr14 | TogoVar | |||||||
PASK_chr2_241101099_241154472 | 241116131 | A | AGGGACAC others(1833): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0023 | a0001c0023t0001 | a0001c0023t0001g0184 | 1 | 329 | 0.0030 | 1840 | c.307 others(1857): Show |
PASK | ENSG00000115687.14 | transcript | ENST00000234040.9 | protein_coding | 12/17 | chr2 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50397569 | C | CTGTCATC others(1833): Show |
intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0210 | 1 | 242 | 0.0041 | 1840 | c.227 others(1857): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PPP6R2_chr22_50338327_50450090 | 50397738 | A | AGTGTGAC others(1833): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0006 | a0006c0011 | a0006c0011t0008 | a0006c0011t0008g0310 | 1 | 210 | 0.0048 | 1840 | c.227 others(1857): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1833): Show |
upstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 8 | 0.1250 | 1840 | c.-20 others(1851): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1833): Show |
upstream_gene_variant | MODIFIER | HG00438.hp2 HG01928.hp1 HG01952.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0002 a0001c0001t0003g0019 a0001c0001t0007g0009 |
17 | 24 | 0.7083 | 1840 | c.-20 others(1851): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1833): Show |
upstream_gene_variant | MODIFIER | NA18971.hp2 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 9 | 0.2222 | 1840 | c.-20 others(1851): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 242589 | C | CTACCTTC others(1833): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0120 | 1 | 87 | 0.0115 | 1840 | c.613 others(1857): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 7/9 | chr17 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(1833): Show |
intron_variant | MODIFIER | HG02976.hp2 HG03139.hp2 HG03486.hp1 |
a0001 | a0001c0006a0001c0044a0001c0048 | a0001c0006t0063a0001c0044t0045a0001c0048t0073 | a0001c0006t0063g0160 a0001c0044t0045g0083 a0001c0048t0073g0144 |
3 | 6 | 0.5000 | 1840 | c.291 others(1859): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80930448 | T | TCAGCTCA others(1833): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02970.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0006a0001c0008a0001c0011others(1): Show | a0001c0006t0082a0001c0008t0027a0001c0011t0024others(1): Show | a0001c0006t0082g0015 a0001c0008t0027g0129 a0001c0011t0024g0148 others(1): Show |
4 | 7 | 0.5714 | 1840 | c.291 others(1859): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 24/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC12A7_chr5_1045384_1117063 | 1098238 | A | ACCCAGGC others(1833): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 81 | 0.0123 | 1840 | c.125 others(1857): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 1/23 | chr5 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948608 | A | AGAGGGAG others(1833): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0249 | 1 | 317 | 0.0032 | 1840 | c.114 others(1857): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1833): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 146 | 0.0068 | 1840 | c.114 others(1857): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(1833): Show |
downstream_gene_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 113 | 0.0088 | 1840 | c.*53 others(1851): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1834): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 76 | 0.0132 | 1841 | c.955 others(1858): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCC others(1834): Show |
downstream_gene_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 223 | 0.0045 | 1841 | c.*36 others(1852): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | |||||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1834): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 45 | 0.0222 | 1841 | c.289 others(1860): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar |