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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ZNF17_chr19_57406161_57426934 | 57421395 | G | T | stop_gained | HIGH | HG01515.hp1 | a0006 | a0006c0009 | a0006c0009t0003 | a0006c0009t0003g0006 | 1 | 404 | 0.0025 | 0 | c.190 others(4): Show |
p.Glu others(4): Show |
ZNF17 | ENSG00000186272.13 | transcript | ENST00000307658.12 | protein_coding | 4/4 | 2175/2714 | 1909/1995 | 637/664 | chr19 | TogoVar | ||
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 | |
ZNF528_chr19_52392849_52423401 | 52401662 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(225): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0010a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(112): Show | 228 | 476 | 0.4790 | 1 | c.-13 others(7): Show |
ZNF528 | ENSG00000167555.14 | transcript | ENST00000360465.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF567_chr19_36682612_36726336 | 36689395 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(155): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(101): Show | 158 | 386 | 0.4093 | 0 | c.-16 others(6): Show |
ZNF567 | ENSG00000189042.14 | transcript | ENST00000682579.1 | protein_coding | 1/5 | 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 | 55578181 | G | GGC | frameshift_variant | HIGH | HG00438.hp1 HG01515.hp2 HG02080.hp1 others(8): Show |
a0007a0016a0023others(1): Show | a0007c0014a0007c0023a0016c0025others(2): Show | a0007c0014t0001a0007c0023t0002a0007c0023t0003others(3): Show | a0007c0014t0001g0016a0007c0023t0002g0052a0007c0023t0003g0074others(4): Show | 11 | 416 | 0.0264 | 2 | c.145 others(11): Show |
p.Pro others(5): Show |
ZNF579 | ENSG00000218891.5 | transcript | ENST00000325421.7 | protein_coding | 2/2 | 1514/2922 | 1458/1689 | 486/562 | chr19 | TogoVar | ||
ZNF600_chr19_52759184_52791791 | 52767305 | G | A | stop_gained | HIGH | HG01515.hp2 HG01517.hp1 |
a0013 | a0013c0021 | a0013c0021t0003 | a0013c0021t0003g0093a0013c0021t0003g0094 | 2 | 488 | 0.0041 | 0 | c.658 others(3): Show |
p.Gln others(4): Show |
ZNF600 | ENSG00000189190.11 | transcript | ENST00000692063.1 | protein_coding | 6/6 | 1497/4618 | 658/2376 | 220/791 | chr19 | TogoVar | ||
ZNF681_chr19_23734195_23763891 | 23744939 | CCA | C | frameshift_variant | HIGH | HG00438.hp2 HG00609.hp2 HG00621.hp2 others(37): Show |
a0003 | a0003c0003a0003c0012 | a0003c0003t0001a0003c0003t0003a0003c0003t0026others(2): Show | a0003c0003t0001g0005a0003c0003t0001g0027a0003c0003t0001g0029others(26): Show | 40 | 394 | 0.1015 | -2 | c.609 others(9): Show |
p.Cys others(5): Show |
ZNF681 | ENSG00000196172.9 | transcript | ENST00000402377.3 | protein_coding | 4/4 | 752/6497 | 609/1938 | 203/645 | chr19 | TogoVar | ||
ZNF718_chr4_119501_169162 | 127124 | GAAAATTT others(6135): Show |
G | exon_loss_variant | HIGH | HG00099.hp1 HG00558.hp1 HG00558.hp2 others(159): Show |
a0001 | a0001c0001a0001c0009a0001c0010others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(117): Show | 162 | 330 | 0.4909 | -6142 | c.3+2 others(15): Show |
ZNF718 | ENSG00000250312.8 | transcript | ENST00000510175.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ZNF787_chr19_56082366_56126295 | 56088492 | A | AC | frameshift_variant | HIGH | HG00735.hp1 HG01099.hp2 HG01243.hp1 others(19): Show |
a0000 | a0000c0004a0000c0005a0000c0015others(4): Show | a0000c0004t0001a0000c0004t0003a0000c0004t0004others(15): Show | a0000c0004t0001g0272a0000c0004t0003g0207a0000c0004t0003g0230others(19): Show | 22 | 410 | 0.0537 | 1 | c.679 others(4): Show |
p.Val others(5): Show |
ZNF787 | ENSG00000142409.6 | transcript | ENST00000610935.2 | protein_coding | 3/3 | 813/1940 | 679/1149 | 227/382 | chr19 | TogoVar | ||
ZNF836_chr19_52149107_52176621 | 52155754 | G | T | stop_gained | HIGH | HG01515.hp1 HG01517.hp1 |
a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0061 | 2 | 468 | 0.0043 | 0 | c.192 others(4): Show |
p.Cys others(4): Show |
ZNF836 | ENSG00000196267.14 | transcript | ENST00000682614.1 | protein_coding | 5/5 | 2429/4076 | 1929/2811 | 643/936 | chr19 | TogoVar | ||
ZNF880_chr19_52364923_52390795 | 52383892 | TA | T | frameshift_variant | HIGH | HG00140.hp2 HG00438.hp1 HG00438.hp2 others(146): Show |
a0002a0005 | a0002c0002a0002c0013a0002c0014others(6): Show | a0002c0002t0001a0002c0013t0001a0002c0014t0001others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0007a0002c0002t0001g0014others(77): Show | 149 | 458 | 0.3253 | -1 | c.317 others(4): Show |
p.Asn others(5): Show |
ZNF880 | ENSG00000221923.9 | transcript | ENST00000422689.3 | protein_coding | 4/4 | 360/2258 | 317/1734 | 106/577 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
ZNF880_chr19_52364923_52390795 | 52384797 | A | AACCTTAC others(460): Show |
frameshift_variant others(1): Show |
HIGH | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(139): Show |
a0002a0005a0012others(1): Show | a0002c0002a0002c0015a0005c0006others(2): Show | a0002c0002t0001a0002c0015t0001a0005c0006t0001others(2): Show | a0002c0002t0001g0001a0002c0002t0001g0007a0002c0002t0001g0014others(72): Show | 142 | 458 | 0.3100 | 467 | c.123 others(476): Show |
p.Cys others(5): Show |
ZNF880 | ENSG00000221923.9 | transcript | ENST00000422689.3 | protein_coding | 4/4 | 1281/2258 | 1238/1734 | 413/577 | 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 | 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 | |
ZNG1E_chr9_65670928_65739041 | 65731675 | G | T | stop_gained | HIGH | HG00423.hp1 HG00639.hp2 HG01069.hp2 others(53): Show |
a0002a0006 | a0002c0002a0006c0010 | a0002c0002t0002a0002c0002t0006a0006c0010t0002 | a0002c0002t0002g0003a0002c0002t0002g0006a0002c0002t0002g0014others(52): Show | 56 | 202 | 0.2772 | 0 | c.862 others(3): Show |
p.Glu others(4): Show |
ZNG1E | ENSG00000147996.17 | transcript | ENST00000382405.8 | protein_coding | 12/15 | 911/1662 | 862/1188 | 288/395 | chr9 | TogoVar | ||
ZNG1E_chr9_65670928_65739041 | 65733107 | C | T | stop_gained | HIGH | HG00423.hp1 HG00639.hp2 HG01069.hp2 others(53): Show |
a0002a0006 | a0002c0002a0006c0010 | a0002c0002t0002a0002c0002t0006a0006c0010t0002 | a0002c0002t0002g0003a0002c0002t0002g0006a0002c0002t0002g0014others(52): Show | 56 | 202 | 0.2772 | 0 | c.106 others(4): Show |
p.Arg others(4): Show |
ZNG1E | ENSG00000147996.17 | transcript | ENST00000382405.8 | protein_coding | 14/15 | 1115/1662 | 1066/1188 | 356/395 | chr9 | TogoVar |