regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF480_chr19_52292169_52330922 | 52300416 | CTG | C | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(217): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0010others(11): Show | a0001c0002t0001g0001a0001c0002t0001g0002a0001c0002t0001g0015others(157): Show | 220 | 378 | 0.5820 | -2 | c.9_1 others(6): Show |
p.Cys others(3): Show |
ZNF480 | ENSG00000198464.14 | transcript | ENST00000595962.6 | protein_coding | 2/5 | 83/4746 | 9/1608 | 3/535 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
ZNF579_chr19_55571774_55585848 | 55578176 | C | CG | frameshift_variant | HIGH | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(114): Show |
a0004a0005a0006others(8): Show | a0004c0004a0005c0008a0005c0010others(14): Show | a0004c0004t0001a0005c0008t0001a0005c0008t0006others(18): Show | a0004c0004t0001g0002a0004c0004t0001g0037a0005c0008t0001g0007others(24): Show | 117 | 416 | 0.2813 | 1 | c.146 others(5): Show |
p.Pro others(5): Show |
ZNF579 | ENSG00000218891.5 | transcript | ENST00000325421.7 | protein_coding | 2/2 | 1519/2922 | 1463/1689 | 488/562 | chr19 | TogoVar | ||
ZNF579_chr19_55571774_55585848 | 55578249 | C | CG | frameshift_variant | HIGH | HG00673.hp1 HG01358.hp2 HG01928.hp1 others(8): Show |
a0012a0017a0022others(4): Show | a0012c0016a0017c0026a0022c0036others(4): Show | a0012c0016t0001a0017c0026t0001a0022c0036t0002others(4): Show | a0012c0016t0001g0018a0017c0026t0001g0028a0022c0036t0002g0048others(4): Show | 11 | 416 | 0.0264 | 1 | c.139 others(5): Show |
p.Arg others(5): Show |
ZNF579 | ENSG00000218891.5 | transcript | ENST00000325421.7 | protein_coding | 2/2 | 1446/2922 | 1390/1689 | 464/562 | chr19 | TogoVar | ||
ZNF626_chr19_20614939_20666571 | 20624327 | GGCTTTGC others(160): Show |
G | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(291): Show |
a0000a0004 | a0000c0001a0000c0004a0000c0005others(9): Show | a0000c0001t0001a0000c0001t0002a0000c0001t0003others(50): Show | a0000c0001t0001g0001a0000c0001t0001g0004a0000c0001t0001g0014others(254): Show | 294 | 378 | 0.7778 | -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 | ||
ZNF681_chr19_23734195_23763891 | 23745033 | TA | T | frameshift_variant | HIGH | HG01123.hp2 HG01884.hp2 HG02055.hp2 others(3): Show |
a0005 | a0005c0005 | a0005c0005t0010 | a0005c0005t0010g0035a0005c0005t0010g0120a0005c0005t0010g0170others(2): Show | 6 | 394 | 0.0152 | -1 | c.516 others(4): Show |
p.Tyr others(5): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 4/4 | 658/6497 | 516/1938 | 172/645 | chr19 | TogoVar | ||
ZNF711_chrX_85238991_85278357 | 85268268 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00621.hp1 HG01346.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0081a0001c0001t0001g0095a0001c0001t0001g0112others(16): Show | 19 | 276 | 0.0688 | 1 | c.105 others(7): Show |
ZNF711 | ENSG00000147180.17 | transcript | ENST00000674551.1 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ZNF727_chr7_64040434_64090339 | 64068891 | C | T | stop_gained others(1): Show |
HIGH | HG02055.hp1 HG02280.hp1 HG02723.hp1 others(6): Show |
a0004 | a0004c0005a0004c0015 | a0004c0005t0010a0004c0005t0023a0004c0015t0009 | a0004c0005t0010g0052a0004c0005t0010g0298a0004c0005t0010g0299others(5): Show | 9 | 408 | 0.0221 | 0 | c.4C> others(1): Show |
p.Arg others(2): Show |
ZNF727 | ENSG00000214652.6 | transcript | ENST00000456806.3 | protein_coding | 2/4 | 192/8478 | 4/1500 | 2/499 | chr7 | TogoVar | ||
ZNF775_chr7_150374330_150403630 | 150397214 | C | CG | frameshift_variant | HIGH | HG00621.hp1 HG00642.hp1 HG00673.hp2 others(8): Show |
a0003a0005 | a0003c0004a0003c0007a0003c0013others(1): Show | a0003c0004t0001a0003c0007t0001a0003c0013t0002others(1): Show | a0003c0004t0001g0002a0003c0004t0001g0041a0003c0004t0001g0057others(7): Show | 11 | 398 | 0.0276 | 1 | c.738 others(4): Show |
p.Arg others(5): Show |
ZNF775 | ENSG00000196456.13 | transcript | ENST00000329630.10 | protein_coding | 3/3 | 851/2261 | 739/1614 | 247/537 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
ZNF846_chr19_9750357_9773738 | 9752902 | TATAACAA others(6398): Show |
T | exon_loss_variant others(5): Show |
HIGH | HG01952.hp2 HG02055.hp1 HG02451.hp1 others(4): Show |
a0000 | a0000c0004 | a0000c0004t0009 | a0000c0004t0009g0009a0000c0004t0009g0250a0000c0004t0009g0251others(1): Show | 7 | 372 | 0.0188 | -6405 | c.313 others(13): Show |
ZNF846 | ENSG00000196605.7 | transcript | ENST00000397902.7 | protein_coding | 6/6 | chr19 | TogoVar | ||||||
ZNF846_chr19_9750357_9773738 | 9759318 | TGGGCTGG others(1833): Show |
T | exon_loss_variant others(4): Show |
HIGH | HG01952.hp2 HG02055.hp1 HG02451.hp1 others(4): Show |
a0000 | a0000c0004 | a0000c0004t0009 | a0000c0004t0009g0009a0000c0004t0009g0250a0000c0004t0009g0251others(1): Show | 7 | 372 | 0.0188 | -1840 | c.229 others(15): Show |
ZNF846 | ENSG00000196605.7 | transcript | ENST00000397902.7 | protein_coding | 5/6 | 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 | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(284): Show | 295 | 322 | 0.9162 | 0 | c.431 others(5): Show |
ZNG1C | ENSG00000196873.16 | transcript | ENST00000360171.11 | protein_coding | 4/14 | chr9 | TogoVar | ||||||
ZNG1C_chr9_68236983_68305035 | 68285995 | G | GA | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(220): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(215): Show | 223 | 322 | 0.6926 | 1 | c.777 others(4): Show |
p.Leu others(5): Show |
ZNG1C | ENSG00000196873.16 | transcript | ENST00000360171.11 | protein_coding | 11/15 | 827/1685 | 778/1188 | 260/395 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |