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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
XPNPEP2_chrX_129733979_129774536 | 129761227 | TG | T | frameshift_variant | HIGH | NA19075.hp1 | a0026 | a0026c0023 | a0026c0023t0003 | a0026c0023t0003g0001 | 1 | 310 | 0.0032 | -1 | c.155 others(5): Show |
p.Gly others(5): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 17/21 | 1791/3311 | 1556/2025 | 519/674 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
XPNPEP2_chrX_129733979_129774536 | 129762725 | G | GAT | frameshift_variant | HIGH | NA19075.hp1 | a0026 | a0026c0023 | a0026c0023t0003 | a0026c0023t0003g0001 | 1 | 310 | 0.0032 | 2 | c.169 others(11): Show |
p.Arg others(5): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 19/21 | 1933/3311 | 1698/2025 | 566/674 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
XPNPEP2_chrX_129733979_129774536 | 129762735 | GA | G | frameshift_variant | HIGH | NA19075.hp1 | a0026 | a0026c0023 | a0026c0023t0003 | a0026c0023t0003g0001 | 1 | 310 | 0.0032 | -1 | c.170 others(5): Show |
p.Asp others(5): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 19/21 | 1942/3311 | 1707/2025 | 569/674 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
XPNPEP2_chrX_129733979_129774536 | 129762760 | CA | C | frameshift_variant | HIGH | NA19075.hp1 | a0026 | a0026c0023 | a0026c0023t0003 | a0026c0023t0003g0001 | 1 | 310 | 0.0032 | -1 | c.173 others(5): Show |
p.Lys others(5): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 19/21 | 1968/3311 | 1733/2025 | 578/674 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
YIPF6_chrX_68494051_68542282 | 68518778 | TG | T | frameshift_variant | HIGH | NA19075.hp1 | a0002 | a0002c0003 | a0002c0003t0033 | a0002c0003t0033g0097 | 1 | 227 | 0.0044 | -1 | c.278 others(4): Show |
p.Gly others(4): Show |
YIPF6 | ENSG00000181704.12 | transcript | ENST00000462683.6 | protein_coding | 4/7 | 294/6010 | 278/711 | 93/236 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ZFY_chrY_2930381_2987506 | 2975224 | AC | A | frameshift_variant | HIGH | NA19075.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0011 | 1 | 131 | 0.0076 | -1 | c.767 others(4): Show |
p.Pro others(5): Show |
ZFY | ENSG00000067646.12 | transcript | ENST00000155093.8 | protein_coding | 4/8 | 1184/5336 | 767/2406 | 256/801 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
ZFY_chrY_2930381_2987506 | 2975593 | TC | T | frameshift_variant | HIGH | NA19075.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0011 | 1 | 131 | 0.0076 | -1 | c.870 others(4): Show |
p.Arg others(5): Show |
ZFY | ENSG00000067646.12 | transcript | ENST00000155093.8 | protein_coding | 5/8 | 1287/5336 | 870/2406 | 290/801 | INFO_REALIGN_3_PRIME | chrY | TogoVar | |
ZMAT1_chrX_101877290_101937027 | 101931757 | G | GCC | frameshift_variant | HIGH | NA19075.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0181 | 1 | 250 | 0.0040 | 2 | c.250 others(9): Show |
p.Ser others(4): Show |
ZMAT1 | ENSG00000166432.16 | transcript | ENST00000651725.2 | protein_coding | 1/6 | 270/3327 | 251/2088 | 84/695 | chrX | TogoVar | ||
ZNF275_chrX_153329153_153357926 | 153347100 | A | AG | frameshift_variant | HIGH | NA19075.hp1 | a0002 | a0002c0011 | a0002c0011t0002 | a0002c0011t0002g0073 | 1 | 329 | 0.0030 | 1 | c.421 others(4): Show |
p.Val others(5): Show |
ZNF275 | ENSG00000063587.15 | transcript | ENST00000650114.2 | protein_coding | 4/4 | 601/6420 | 422/1290 | 141/429 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ZNF417_chr19_57900774_57921592 | 57908914 | TCATGAAC others(34): Show |
T | frameshift_variant | HIGH | NA19075.hp2 | a0017 | a0017c0026 | a0017c0026t0051 | a0017c0026t0051g0180 | 1 | 436 | 0.0023 | -41 | c.132 others(50): Show |
p.Cys others(5): Show |
ZNF417 | ENSG00000173480.11 | transcript | ENST00000312026.6 | protein_coding | 3/3 | 1544/4685 | 1323/1728 | 441/575 | chr19 | TogoVar | ||
ZNF419_chr19_57482750_57501098 | 57492212 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(136): Show |
a0002a0005 | a0002c0002a0002c0004a0002c0006others(4): Show | a0002c0002t0004a0002c0002t0005a0002c0002t0006others(32): Show | a0002c0002t0004g0003a0002c0002t0004g0028a0002c0002t0004g0029others(68): Show | 139 | 418 | 0.3325 | 0 | c.298 others(5): Show |
ZNF419 | ENSG00000105136.22 | transcript | ENST00000221735.12 | protein_coding | 4/4 | chr19 | TogoVar | ||||||
ZNF474_chr5_122124546_122158569 | 122152940 | AT | A | frameshift_variant | HIGH | HG00423.hp2 HG00609.hp1 HG00621.hp1 others(82): Show |
a0003a0004a0007others(2): Show | a0003c0003a0003c0014a0004c0004others(4): Show | a0003c0003t0001a0003c0003t0002a0003c0003t0003others(11): Show | a0003c0003t0001g0002a0003c0003t0001g0003a0003c0003t0001g0007others(76): Show | 85 | 386 | 0.2202 | -1 | c.953 others(4): Show |
p.Leu others(5): Show |
ZNF474 | ENSG00000164185.7 | transcript | ENST00000296600.5 | protein_coding | 2/2 | 1303/1929 | 953/1095 | 318/364 | INFO_REALIGN_3_PRIME | chr5 | 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 | CTT | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG00609.hp2 HG00673.hp2 others(38): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0107a0001c0001t0001g0108a0001c0001t0001g0141others(15): Show | 41 | 476 | 0.0861 | 2 | c.-13 others(15): Show |
ZNF528 | ENSG00000167555.14 | transcript | ENST00000360465.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | 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 | ||
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 | |||||
ZNF880_chr19_52364923_52390795 | 52384797 | A | AACCTTAC others(457): Show |
frameshift_variant others(1): Show |
HIGH | HG02015.hp1 HG02071.hp1 NA18941.hp1 others(10): Show |
a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0020a0004c0005t0001g0021a0004c0005t0001g0091others(7): Show | 13 | 458 | 0.0284 | 464 | c.123 others(473): 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 | |
ZNF99_chr19_22747183_22789151 | 22757390 | A | AG | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00639.hp2 others(47): Show |
a0000 | a0000c0004a0000c0006a0000c0007 | a0000c0004t0003a0000c0004t0011a0000c0004t0015others(7): Show | a0000c0004t0003g0002a0000c0004t0003g0017a0000c0004t0003g0271others(43): Show | 50 | 344 | 0.1454 | 1 | c.251 others(10): Show |
p.Met others(5): Show |
ZNF99 | ENSG00000213973.10 | transcript | ENST00000596209.4 | protein_coding | 4/4 | 2653/7861 | 2518/2595 | 840/864 | chr19 | 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 |