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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UBTFL1_chr11_90080950_90092131 | 90086720 | C | CT | frameshift_variant | HIGH | HG00323.hp1 HG00597.hp1 HG00639.hp2 others(62): Show |
a0002a0003a0005others(1): Show | a0002c0002a0003c0003a0005c0005others(1): Show | a0002c0002t0000a0003c0003t0000a0005c0005t0000others(1): Show | a0002c0002t0000g0000a0003c0003t0000g0000a0005c0005t0000g0000others(1): Show | 65 | 276 | 0.2355 | 1 | c.772 others(4): Show |
p.Trp others(5): Show |
UBTFL1 | ENSG00000255009.4 | transcript | ENST00000530464.2 | protein_coding | 1/1 | 773/1182 | 773/1182 | 258/393 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
UMAD1_chr7_7635752_7884223 | 7673310 | T | TAGCAGCA others(5): Show |
start_lost others(1): Show |
HIGH | HG01192.hp2 HG01243.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0045a0001c0001t0046 | a0001c0001t0022g0121a0001c0001t0022g0239a0001c0001t0022g0244others(2): Show | 5 | 250 | 0.0200 | 12 | c.-12 others(18): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/4 | 134/2232 | 1/414 | 1/137 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
USP29_chr19_57114985_57136926 | 57131414 | C | A | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(404): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0003a0001c0005others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(35): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(223): Show | 407 | 416 | 0.9784 | 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 | ||
USP51_chrX_55479616_55494848 | 55488528 | G | GGC | frameshift_variant | HIGH | NA18985.hp1 | a0005 | a0005c0006 | a0005c0006t0003 | a0005c0006t0003g0017 | 1 | 296 | 0.0034 | 2 | c.411 others(9): Show |
p.Pro others(5): Show |
USP51 | ENSG00000247746.5 | transcript | ENST00000500968.4 | protein_coding | 3/3 | 730/4643 | 411/2136 | 137/711 | chrX | TogoVar | ||
UTY_chrY_13243385_13485033 | 13414746 | AT | A | frameshift_variant | HIGH | NA18985.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0002 | 1 | 126 | 0.0079 | -1 | c.422 others(4): Show |
p.Asn others(5): Show |
UTY | ENSG00000183878.16 | transcript | ENST00000545955.6 | protein_coding | 5/30 | 790/6174 | 422/4335 | 141/1444 | chrY | TogoVar | ||
VDR_chr12_47836537_47909994 | 47879112 | A | G | start_lost | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(236): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(67): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0016others(234): Show | 239 | 358 | 0.6676 | 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 | ||
VSIG10L_chr19_51326541_51347139 | 51332638 | T | TG | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(448): Show |
a0000a0002 | a0000c0001a0000c0002a0000c0003others(24): Show | a0000c0001t0001a0000c0001t0002a0000c0001t0006others(40): Show | a0000c0001t0001g0004a0000c0001t0001g0012a0000c0001t0001g0014others(104): Show | 451 | 452 | 0.9978 | 1 | c.257 others(5): Show |
p.Gln others(5): Show |
VSIG10L | ENSG00000186806.6 | transcript | ENST00000335624.5 | protein_coding | 10/10 | 2591/3689 | 2576/2604 | 859/867 | chr19 | TogoVar | ||
ZBED1_chrX_2481435_2505976 | 2488684 | TC | T | frameshift_variant | HIGH | NA18985.hp1 | a0007 | a0007c0007 | a0007c0007t0053 | a0007c0007t0053g0144 | 1 | 221 | 0.0045 | -1 | c.203 others(5): Show |
p.Asp others(5): Show |
ZBED1 | ENSG00000214717.12 | transcript | ENST00000652001.1 | protein_coding | 2/2 | 2248/4498 | 2035/2085 | 679/694 | chrX | TogoVar | ||
ZBED1_chrX_2481435_2505976 | 2488880 | T | TG | frameshift_variant | HIGH | NA18985.hp1 | a0007 | a0007c0007 | a0007c0007t0053 | a0007c0007t0053g0144 | 1 | 221 | 0.0045 | 1 | c.183 others(5): Show |
p.Thr others(5): Show |
ZBED1 | ENSG00000214717.12 | transcript | ENST00000652001.1 | protein_coding | 2/2 | 2052/4498 | 1839/2085 | 613/694 | chrX | TogoVar | ||
ZBED1_chrX_2481435_2505976 | 2488936 | A | AG | frameshift_variant | HIGH | NA18985.hp1 | a0007 | a0007c0007 | a0007c0007t0053 | a0007c0007t0053g0144 | 1 | 221 | 0.0045 | 1 | c.178 others(5): Show |
p.Leu others(5): Show |
ZBED1 | ENSG00000214717.12 | transcript | ENST00000652001.1 | protein_coding | 2/2 | 1996/4498 | 1783/2085 | 595/694 | chrX | TogoVar | ||
ZBED1_chrX_2481435_2505976 | 2489052 | G | GC | frameshift_variant | HIGH | NA18985.hp1 | a0007 | a0007c0007 | a0007c0007t0053 | a0007c0007t0053g0144 | 1 | 221 | 0.0045 | 1 | c.166 others(5): Show |
p.Gly others(5): Show |
ZBED1 | ENSG00000214717.12 | transcript | ENST00000652001.1 | protein_coding | 2/2 | 1880/4498 | 1667/2085 | 556/694 | chrX | TogoVar | ||
ZBED1_chrX_2481435_2505976 | 2489227 | AC | A | frameshift_variant | HIGH | NA18985.hp1 | a0007 | a0007c0007 | a0007c0007t0053 | a0007c0007t0053g0144 | 1 | 221 | 0.0045 | -1 | c.149 others(5): Show |
p.Val others(5): Show |
ZBED1 | ENSG00000214717.12 | transcript | ENST00000652001.1 | protein_coding | 2/2 | 1705/4498 | 1492/2085 | 498/694 | chrX | TogoVar | ||
ZBED1_chrX_2481435_2505976 | 2489371 | A | AC | frameshift_variant | HIGH | NA18985.hp1 | a0007 | a0007c0007 | a0007c0007t0053 | a0007c0007t0053g0144 | 1 | 221 | 0.0045 | 1 | c.134 others(5): Show |
p.Val others(5): Show |
ZBED1 | ENSG00000214717.12 | transcript | ENST00000652001.1 | protein_coding | 2/2 | 1561/4498 | 1348/2085 | 450/694 | chrX | TogoVar | ||
ZBED1_chrX_2481435_2505976 | 2489595 | C | CA | frameshift_variant | HIGH | NA18985.hp1 | a0007 | a0007c0007 | a0007c0007t0053 | a0007c0007t0053g0144 | 1 | 221 | 0.0045 | 1 | c.112 others(5): Show |
p.Leu others(5): Show |
ZBED1 | ENSG00000214717.12 | transcript | ENST00000652001.1 | protein_coding | 2/2 | 1337/4498 | 1124/2085 | 375/694 | chrX | TogoVar | ||
ZBED1_chrX_2481435_2505976 | 2489867 | C | CG | frameshift_variant | HIGH | NA18985.hp1 | a0007 | a0007c0007 | a0007c0007t0053 | a0007c0007t0053g0144 | 1 | 221 | 0.0045 | 1 | c.852 others(4): Show |
p.Ala others(5): Show |
ZBED1 | ENSG00000214717.12 | transcript | ENST00000652001.1 | protein_coding | 2/2 | 1065/4498 | 852/2085 | 284/694 | chrX | TogoVar | ||
ZBED1_chrX_2481435_2505976 | 2489943 | G | GC | frameshift_variant | HIGH | NA18985.hp1 | a0007 | a0007c0007 | a0007c0007t0053 | a0007c0007t0053g0144 | 1 | 221 | 0.0045 | 1 | c.776 others(4): Show |
p.Ile others(5): Show |
ZBED1 | ENSG00000214717.12 | transcript | ENST00000652001.1 | protein_coding | 2/2 | 989/4498 | 776/2085 | 259/694 | chrX | TogoVar | ||
ZBED1_chrX_2481435_2505976 | 2489981 | TG | T | frameshift_variant | HIGH | NA18985.hp1 | a0007 | a0007c0007 | a0007c0007t0053 | a0007c0007t0053g0144 | 1 | 221 | 0.0045 | -1 | c.738 others(4): Show |
p.Ile others(5): Show |
ZBED1 | ENSG00000214717.12 | transcript | ENST00000652001.1 | protein_coding | 2/2 | 951/4498 | 738/2085 | 246/694 | chrX | TogoVar | ||
ZBED1_chrX_2481435_2505976 | 2490055 | GC | G | frameshift_variant | HIGH | NA18985.hp1 | a0007 | a0007c0007 | a0007c0007t0053 | a0007c0007t0053g0144 | 1 | 221 | 0.0045 | -1 | c.664 others(4): Show |
p.Ala others(5): Show |
ZBED1 | ENSG00000214717.12 | transcript | ENST00000652001.1 | protein_coding | 2/2 | 877/4498 | 664/2085 | 222/694 | chrX | TogoVar | ||
ZBED1_chrX_2481435_2505976 | 2490063 | GC | G | frameshift_variant | HIGH | NA18985.hp1 | a0007 | a0007c0007 | a0007c0007t0053 | a0007c0007t0053g0144 | 1 | 221 | 0.0045 | -1 | c.656 others(4): Show |
p.Gly others(5): Show |
ZBED1 | ENSG00000214717.12 | transcript | ENST00000652001.1 | protein_coding | 2/2 | 869/4498 | 656/2085 | 219/694 | chrX | TogoVar | ||
ZBED1_chrX_2481435_2505976 | 2490443 | C | CGG | frameshift_variant | HIGH | NA18985.hp1 | a0007 | a0007c0007 | a0007c0007t0053 | a0007c0007t0053g0144 | 1 | 221 | 0.0045 | 2 | c.275 others(9): Show |
p.Ala others(4): Show |
ZBED1 | ENSG00000214717.12 | transcript | ENST00000652001.1 | protein_coding | 2/2 | 489/4498 | 276/2085 | 92/694 | chrX | TogoVar | ||
ZBED1_chrX_2481435_2505976 | 2490557 | C | CGATCTGC others(12): Show |
frameshift_variant | HIGH | NA18985.hp1 | a0007 | a0007c0007 | a0007c0007t0053 | a0007c0007t0053g0144 | 1 | 221 | 0.0045 | 19 | c.162 others(26): Show |
p.Ala others(4): Show |
ZBED1 | ENSG00000214717.12 | transcript | ENST00000652001.1 | protein_coding | 2/2 | 375/4498 | 162/2085 | 54/694 | chrX | 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 | a0001c0002t0002g0004a0001c0002t0002g0006a0001c0002t0002g0009others(36): Show | 56 | 262 | 0.2137 | 4 | c.211 others(15): Show |
ZC2HC1A | ENSG00000104427.13 | transcript | ENST00000263849.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ZDHHC13_chr11_19112168_19181415 | 19124378 | GTTAATAA others(24698): Show |
G | exon_loss_variant | HIGH | NA18985.hp2 | a0007 | a0007c0004 | a0007c0004t0001 | a0007c0004t0001g0245 | 1 | 350 | 0.0029 | -24705 | c.27+ others(15): Show |
ZDHHC13 | ENSG00000177054.14 | transcript | ENST00000446113.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ZNF117_chr7_64966772_64996036 | 64978289 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(376): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(54): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0008others(233): Show | 379 | 444 | 0.8536 | 0 | c.128 others(4): Show |
p.Arg others(4): Show |
ZNF117 | ENSG00000152926.16 | transcript | ENST00000282869.11 | protein_coding | 4/4 | 2567/9084 | 1282/1452 | 428/483 | chr7 | TogoVar | ||
ZNF185_chrX_152893067_152978474 | 152922769 | C | CT | frameshift_variant | HIGH | NA18985.hp2 | a0007 | a0007c0013 | a0007c0013t0002 | a0007c0013t0002g0220 | 1 | 260 | 0.0039 | 1 | c.791 others(4): Show |
p.Pro others(5): Show |
ZNF185 | ENSG00000147394.20 | transcript | ENST00000695776.1 | protein_coding | 12/25 | 1009/4587 | 792/2169 | 264/722 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ZNF185_chrX_152893067_152978474 | 152922792 | T | TG | frameshift_variant | HIGH | NA18985.hp2 | a0007 | a0007c0013 | a0007c0013t0002 | a0007c0013t0002g0220 | 1 | 260 | 0.0039 | 1 | c.816 others(4): Show |
p.Ser others(5): Show |
ZNF185 | ENSG00000147394.20 | transcript | ENST00000695776.1 | protein_coding | 12/25 | 1034/4587 | 817/2169 | 273/722 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ZNF223_chr19_44047036_44072999 | 44066676 | CAG | C | frameshift_variant | HIGH | NA18945.hp2 NA18977.hp2 NA18985.hp1 others(3): Show |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0045a0005c0007t0001g0046a0005c0007t0001g0128others(1): Show | 6 | 434 | 0.0138 | -2 | c.849 others(9): Show |
p.Lys others(5): Show |
ZNF223 | ENSG00000178386.13 | transcript | ENST00000434772.8 | protein_coding | 5/5 | 1077/2399 | 849/1449 | 283/482 | chr19 | TogoVar | ||
ZNF233_chr19_44254886_44280317 | 44274642 | CG | C | frameshift_variant | HIGH | HG00323.hp1 HG00544.hp1 HG00597.hp1 others(137): Show |
a0000 | a0000c0003a0000c0004a0000c0005others(2): Show | a0000c0003t0001a0000c0004t0001a0000c0005t0001others(2): Show | a0000c0003t0001g0002a0000c0003t0001g0005a0000c0003t0001g0008others(90): Show | 140 | 408 | 0.3431 | -1 | c.198 others(5): Show |
p.Leu others(5): Show |
ZNF233 | ENSG00000159915.13 | transcript | ENST00000683810.1 | protein_coding | 5/5 | 2083/2757 | 1983/2013 | 661/670 | 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 | |||||
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 | ||
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 | ||
ZNF628_chr19_55471617_55489487 | 55482009 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00597.hp2 HG00642.hp1 others(29): Show |
a0004a0008a0033others(3): Show | a0004c0015a0004c0017a0004c0024others(20): Show | a0004c0015t0001a0004c0017t0001a0004c0024t0001others(20): Show | a0004c0015t0001g0001a0004c0015t0001g0007a0004c0015t0001g0017others(28): Show | 32 | 422 | 0.0758 | 1 | c.821 others(4): Show |
p.Pro others(5): Show |
ZNF628 | ENSG00000197483.11 | transcript | ENST00000598519.2 | protein_coding | 3/3 | 1090/3562 | 822/3180 | 274/1059 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
ZNF628_chr19_55471617_55489487 | 55482519 | A | AC | frameshift_variant | HIGH | HG00423.hp2 HG00544.hp2 HG01516.hp2 others(18): Show |
a0004a0008a0011others(9): Show | a0004c0058a0004c0059a0004c0082others(14): Show | a0004c0058t0001a0004c0059t0001a0004c0082t0001others(14): Show | a0004c0058t0001g0029a0004c0059t0001g0001a0004c0082t0001g0131others(16): Show | 21 | 422 | 0.0498 | 1 | c.133 others(5): Show |
p.Ser others(5): Show |
ZNF628 | ENSG00000197483.11 | transcript | ENST00000598519.2 | protein_coding | 3/3 | 1600/3562 | 1332/3180 | 444/1059 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
ZNF674_chrX_46492725_46550421 | 46500789 | A | AG | frameshift_variant | HIGH | NA18985.hp1 | a0005 | a0005c0005 | a0005c0005t0018 | a0005c0005t0018g0167 | 1 | 287 | 0.0035 | 1 | c.784 others(4): Show |
p.Leu others(5): Show |
ZNF674 | ENSG00000251192.8 | transcript | ENST00000683375.1 | protein_coding | 6/6 | 975/4040 | 784/1731 | 262/576 | chrX | TogoVar | ||
ZNF674_chrX_46492725_46550421 | 46501051 | CT | C | frameshift_variant | HIGH | NA18985.hp1 | a0005 | a0005c0005 | a0005c0005t0018 | a0005c0005t0018g0167 | 1 | 287 | 0.0035 | -1 | c.522 others(4): Show |
p.Val others(5): Show |
ZNF674 | ENSG00000251192.8 | transcript | ENST00000683375.1 | protein_coding | 6/6 | 713/4040 | 522/1731 | 174/576 | chrX | TogoVar | ||
ZNF697_chr1_119614377_119653266 | 119623303 | G | GC | frameshift_variant | HIGH | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(24): Show |
a0002a0003a0011 | a0002c0003a0003c0005a0003c0011others(1): Show | a0002c0003t0002a0002c0003t0004a0002c0003t0005others(18): Show | a0002c0003t0002g0197a0002c0003t0002g0221a0002c0003t0002g0232others(24): Show | 27 | 394 | 0.0685 | 1 | c.103 others(5): Show |
p.Ala others(5): Show |
ZNF697 | ENSG00000143067.5 | transcript | ENST00000421812.3 | protein_coding | 3/3 | 1652/5579 | 1039/1638 | 347/545 | chr1 | 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 | |
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 |