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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ULBP3_chr6_150056053_150074121 | 150069013 | G | C | stop_gained | HIGH | HG00099.hp1 HG01934.hp2 HG01943.hp2 others(10): Show |
a0003 | a0003c0003 | a0003c0003t0006a0003c0003t0043 | a0003c0003t0006g0011 a0003c0003t0006g0022 a0003c0003t0006g0100 others(1): Show |
13 | 456 | 0.0285 | 0 | c.54C others(2): Show |
p.Tyr others(3): Show |
ULBP3 | ENSG00000131019.11 | transcript | ENST00000367339.7 | protein_coding | 1/5 | 109/3111 | 54/735 | 18/244 | chr6 | TogoVar | |||
UNKL_chr16_1358205_1419704 | 1397263 | TCCCCGTG others(428): Show |
T | frameshift_variant others(3): Show |
HIGH | HG00621.hp1 NA18982.hp1 NA19082.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0008 | a0002c0002t0001g0118 a0002c0002t0001g0128 a0002c0002t0008g0143 |
3 | 261 | 0.0115 | -435 | c.735 others(11): Show |
p.Ser others(5): Show |
UNKL | ENSG00000059145.19 | transcript | ENST00000389221.9 | protein_coding | 6/15 | 779/5250 | 735/2202 | 245/733 | chr16 | TogoVar | |||
USP17L19_chr4_9248378_9259970 | 9253398 | C | G | stop_gained | HIGH | HG00735.hp1 HG01074.hp2 HG01257.hp2 others(5): Show |
a0002 | a0002c0011a0002c0075a0002c0076others(1): Show | a0002c0011t0001a0002c0075t0001a0002c0076t0001others(1): Show | a0002c0011t0001g0000 a0002c0075t0001g0000 a0002c0076t0001g0000 others(1): Show |
8 | 206 | 0.0388 | 0 | c.21C others(2): Show |
p.Tyr others(2): Show |
USP17L19 | ENSG00000248920.3 | transcript | ENST00000515566.1 | protein_coding | 1/1 | 21/1593 | 21/1593 | 7/530 | chr4 | TogoVar | |||
USP29_chr19_57114985_57136926 | 57131414 | C | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(403): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(35): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(223): Show |
406 | 414 | 0.9807 | 0 | c.273 others(4): Show |
p.Tyr others(4): Show |
USP29 | ENSG00000131864.11 | transcript | ENST00000254181.9 | protein_coding | 4/4 | 3251/3763 | 2739/2769 | 913/922 | chr19 | TogoVar | |||
VDR_chr12_47836537_47909994 | 47879112 | A | G | start_lost | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(236): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(67): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0018 others(233): Show |
239 | 356 | 0.6713 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
VDR | ENSG00000111424.12 | transcript | ENST00000549336.6 | protein_coding | 3/10 | 125/4616 | 2/1284 | 1/427 | chr12 | TogoVar | |||
WHAMM_chr15_82804628_82841108 | 82830910 | A | AC | frameshift_variant | HIGH | HG00423.hp2 HG01175.hp2 HG01928.hp1 others(8): Show |
a0006a0009 | a0006c0006a0006c0007a0009c0010 | a0006c0006t0004a0006c0006t0005a0006c0006t0013others(6): Show | a0006c0006t0004g0006 a0006c0006t0005g0002 a0006c0006t0013g0261 others(8): Show |
11 | 430 | 0.0256 | 1 | c.195 others(5): Show |
p.Pro others(5): Show |
WHAMM | ENSG00000156232.7 | transcript | ENST00000286760.5 | protein_coding | 9/10 | 2055/5101 | 1956/2430 | 652/809 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||
ZC2HC1A_chr8_78661089_78724765 | 78686431 | G | GTTTA | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00673.hp1 others(53): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006a0001c0002t0009 | a0001c0002t0002g0004 a0001c0002t0002g0006 a0001c0002t0002g0009 others(36): Show |
56 | 86 | 0.6512 | 4 | c.211 others(15): Show |
ZC2HC1A | ENSG00000104427.13 | transcript | ENST00000263849.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZNF331_chr19_53533145_53585269 | 53569386 | G | A | splice_donor_variant others(1): Show |
HIGH | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 414 | 0.0024 | 0 | c.9+1 others(3): Show |
ZNF331 | ENSG00000130844.19 | transcript | ENST00000449416.6 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
ZNF626_chr19_20614939_20666571 | 20624327 | GGCTTTGC others(160): Show |
G | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(290): Show |
a0001a0004a0005others(6): Show | a0001c0001a0001c0009a0001c0013others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0014 others(253): Show |
293 | 376 | 0.7793 | -167 | c.138 others(9): Show |
p.Cys others(5): Show |
ZNF626 | ENSG00000188171.17 | transcript | ENST00000601440.6 | protein_coding | 4/4 | 1674/6063 | 1383/1587 | 461/528 | chr19 | TogoVar | |||
ZNF865_chr19_55600647_55622269 | 55614540 | G | GC | frameshift_variant | HIGH | HG00544.hp2 HG00738.hp2 HG01123.hp1 others(16): Show |
a0002a0010 | a0002c0005a0002c0009a0002c0011others(2): Show | a0002c0005t0001a0002c0009t0001a0002c0009t0002others(4): Show | a0002c0005t0001g0001 a0002c0005t0001g0016 a0002c0005t0001g0017 others(10): Show |
19 | 428 | 0.0444 | 1 | c.927 others(4): Show |
p.Ser others(5): Show |
ZNF865 | ENSG00000261221.5 | transcript | ENST00000568956.2 | protein_coding | 2/2 | 1040/3763 | 928/3180 | 310/1059 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ZNG1C_chr9_68236983_68305035 | 68256920 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(292): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(280): Show |
295 | 322 | 0.9161 | 0 | c.431 others(5): Show |
ZNG1C | ENSG00000196873.16 | transcript | ENST00000360171.11 | protein_coding | 4/14 | chr9 | TogoVar | |||||||
ZSWIM1_chr20_45876227_45890266 | 45882618 | G | A | stop_gained | HIGH | HG01433.hp2 HG02040.hp1 HG02698.hp1 others(2): Show |
a0003 | a0003c0005 | a0003c0005t0014a0003c0005t0075 | a0003c0005t0014g0003 a0003c0005t0075g0003 |
5 | 402 | 0.0124 | 0 | c.26G others(2): Show |
p.Trp others(2): Show |
ZSWIM1 | ENSG00000168612.5 | transcript | ENST00000372523.1 | protein_coding | 2/2 | 121/2769 | 26/1458 | 9/485 | chr20 | TogoVar |