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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRSF3_chr6_36589362_36610600 | 36601940 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(95): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0017 a0001c0001t0001g0041 a0001c0001t0001g0060 others(59): Show |
98 | 342 | 0.2866 | 1 | c.468 others(6): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
TAMALIN_chr12_52001946_52020889 | 52014908 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00597.hp2 HG00621.hp1 others(32): Show |
a0002a0007 | a0002c0002a0002c0006a0007c0013 | a0002c0002t0001a0002c0002t0002a0002c0006t0001others(1): Show | a0002c0002t0001g0001 a0002c0002t0001g0002 a0002c0002t0001g0003 others(15): Show |
35 | 378 | 0.0926 | 1 | c.902 others(4): Show |
p.Pro others(5): Show |
TAMALIN | ENSG00000161835.11 | transcript | ENST00000293662.9 | protein_coding | 8/8 | 977/1952 | 903/1188 | 301/395 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
TBC1D31_chr8_123067707_123157153 | 123142457 | G | T | splice_donor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(86): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0043 a0001c0001t0001g0162 others(85): Show |
89 | 320 | 0.2781 | 0 | c.283 others(6): Show |
TBC1D31 | ENSG00000156787.17 | transcript | ENST00000287380.6 | protein_coding | 19/21 | chr8 | TogoVar | |||||||
TBKBP1_chr17_47689161_47717052 | 47708849 | T | TC | frameshift_variant | HIGH | HG00621.hp1 HG00642.hp1 HG00673.hp1 others(5): Show |
a0006a0007 | a0006c0008a0006c0022a0007c0010 | a0006c0008t0001a0006c0022t0001a0007c0010t0001 | a0006c0008t0001g0003 a0006c0008t0001g0069 a0006c0008t0001g0097 others(5): Show |
8 | 384 | 0.0208 | 1 | c.111 others(5): Show |
p.Val others(5): Show |
TBKBP1 | ENSG00000198933.11 | transcript | ENST00000578982.6 | protein_coding | 9/10 | 1188/3342 | 1120/1848 | 374/615 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
TBKBP1_chr17_47689161_47717052 | 47709026 | G | GC | frameshift_variant | HIGH | HG00438.hp1 HG00621.hp1 HG00621.hp2 others(37): Show |
a0002a0006a0012others(4): Show | a0002c0004a0002c0005a0002c0011others(10): Show | a0002c0004t0001a0002c0004t0003a0002c0005t0001others(12): Show | a0002c0004t0001g0002 a0002c0004t0001g0016 a0002c0004t0001g0052 others(36): Show |
40 | 384 | 0.1042 | 1 | c.129 others(5): Show |
p.Pro others(5): Show |
TBKBP1 | ENSG00000198933.11 | transcript | ENST00000578982.6 | protein_coding | 9/10 | 1367/3342 | 1299/1848 | 433/615 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
TCHHL1_chr1_152079141_152094064 | 152085716 | G | A | stop_gained | HIGH | HG00642.hp2 HG01167.hp1 HG01169.hp1 others(26): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 29 | 374 | 0.0775 | 0 | c.196 others(4): Show |
p.Gln others(4): Show |
TCHHL1 | ENSG00000182898.4 | transcript | ENST00000368806.2 | protein_coding | 3/3 | 2031/3606 | 1966/2715 | 656/904 | chr1 | TogoVar | |||
TFDP3_chrX_133211662_133223354 | 133217319 | A | AGGTCTTC others(22): Show |
frameshift_variant | HIGH | NA18985.hp1 | a0008 | a0008c0007 | a0008c0007t0002 | a0008c0007t0002g0000 | 1 | 254 | 0.0039 | 29 | c.912 others(36): Show |
p.Leu others(5): Show |
TFDP3 | ENSG00000183434.10 | transcript | ENST00000310125.5 | protein_coding | 1/1 | 1035/1693 | 940/1218 | 314/405 | chrX | TogoVar | |||
TGIF2LY_chrY_3574067_3585041 | 3579632 | G | GC | frameshift_variant | HIGH | NA18985.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0002 | 1 | 129 | 0.0078 | 1 | c.391 others(4): Show |
p.His others(5): Show |
TGIF2LY | ENSG00000176679.9 | transcript | ENST00000321217.5 | protein_coding | 2/2 | 474/879 | 392/558 | 131/185 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||
TLR8_chrX_12901620_12928169 | 12906707 | A | G | start_lost others(1): Show |
HIGH | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(162): Show |
a0001 | a0001c0001a0001c0004a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0008a0001c0004t0001others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0011 others(40): Show |
165 | 301 | 0.5482 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
TLR8 | ENSG00000101916.12 | transcript | ENST00000218032.7 | protein_coding | 1/2 | 88/4216 | 1/3126 | 1/1041 | chrX | TogoVar | |||
TPST2_chr22_26516996_26595132 | 26541248 | A | AC | frameshift_variant | HIGH | HG00597.hp2 HG00621.hp1 HG00673.hp2 others(23): Show |
a0002 | a0002c0002a0002c0011a0002c0012others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(12): Show | a0002c0002t0001g0013 a0002c0002t0001g0026 a0002c0002t0001g0089 others(23): Show |
26 | 398 | 0.0653 | 1 | c.382 others(4): Show |
p.Val others(5): Show |
TPST2 | ENSG00000128294.16 | transcript | ENST00000338754.9 | protein_coding | 3/7 | 622/5653 | 382/1134 | 128/377 | chr22 | TogoVar | |||
TRIM51G_chr11_48970498_48988885 | 48978871 | C | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(270): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0006a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0003others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(71): Show |
273 | 422 | 0.6469 | 0 | c.738 others(5): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 4/6 | chr11 | TogoVar | |||||||
TRIM51G_chr11_48970498_48988885 | 48979006 | G | A | stop_gained | HIGH | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(136): Show |
a0002a0011a0012 | a0002c0002a0002c0004a0002c0015others(3): Show | a0002c0002t0002a0002c0004t0002a0002c0015t0002others(3): Show | a0002c0002t0002g0005 a0002c0002t0002g0007 a0002c0002t0002g0009 others(57): Show |
139 | 422 | 0.3294 | 0 | c.604 others(3): Show |
p.Gln others(4): Show |
TRIM51G | ENSG00000220948.6 | transcript | ENST00000534741.3 | protein_coding | 4/7 | 755/1510 | 604/1359 | 202/452 | chr11 | TogoVar | |||
TUBA3E_chr2_130186745_130203439 | 130197356 | ACACACCT others(2467): Show |
A | exon_loss_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show |
a0001 | a0001c0002a0001c0005a0001c0011others(14): Show | a0001c0002t0002a0001c0005t0002a0001c0011t0002others(14): Show | a0001c0002t0002g0002 a0001c0002t0002g0003 a0001c0002t0002g0006 others(31): Show |
177 | 426 | 0.4155 | -2474 | c.-14 others(11): Show |
TUBA3E | ENSG00000152086.9 | transcript | ENST00000312988.9 | protein_coding | 1/5 | chr2 | TogoVar | |||||||
TUBA4B_chr2_219248243_219277197 | 219271292 | G | T | stop_gained | HIGH | NA18985.hp1 | a0012 | a0012c0013 | a0012c0013t0004 | a0012c0013t0004g0077 | 1 | 348 | 0.0029 | 0 | c.319 others(3): Show |
p.Gly others(4): Show |
TUBA4B | ENSG00000243910.9 | transcript | ENST00000490341.3 | protein_coding | 4/4 | 484/1389 | 319/726 | 107/241 | chr2 | TogoVar | |||
TYW1B_chr7_72569513_72833200 | 72728896 | C | T | stop_gained | HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp2 others(117): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0007a0001c0018others(11): Show | a0001c0001t0001a0001c0007t0001a0001c0018t0001others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(117): Show |
120 | 284 | 0.4225 | 0 | c.111 others(4): Show |
p.Trp others(4): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 9/14 | 1243/3117 | 1118/2007 | 373/668 | chr7 | TogoVar | |||
TYW1B_chr7_72569513_72833200 | 72744551 | C | CA | frameshift_variant | HIGH | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(208): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0006others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(19): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(208): Show |
211 | 284 | 0.7430 | 1 | c.101 others(5): Show |
p.Glu others(5): Show |
TYW1B | ENSG00000277149.5 | transcript | ENST00000620995.5 | protein_coding | 8/14 | 1139/3117 | 1014/2007 | 338/668 | chr7 | TogoVar | |||
UBTFL1_chr11_90080950_90092131 | 90086720 | C | CT | frameshift_variant | HIGH | HG00323.hp1 HG00597.hp1 HG00639.hp2 others(62): Show |
a0002a0004a0005 | a0002c0002a0004c0003a0005c0005others(1): Show | a0002c0002t0001a0004c0003t0001a0005c0005t0001others(1): Show | a0002c0002t0001g0000 a0004c0003t0001g0000 a0005c0005t0001g0000 others(1): Show |
65 | 274 | 0.2372 | 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 | a0001c0001t0022g0120 a0001c0001t0022g0239 a0001c0001t0022g0244 others(2): Show |
5 | 44 | 0.1136 | 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(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 | |||
UTY_chrY_13243385_13485033 | 13414746 | AT | A | frameshift_variant | HIGH | NA18985.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0002 | 1 | 124 | 0.0081 | -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 |
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 | |||
ZBED1_chrX_2481435_2505976 | 2490557 | C | CGATCTGC others(12): Show |
frameshift_variant | HIGH | NA18985.hp1 | a0003 | a0003c0006 | a0003c0006t0040 | a0003c0006t0040g0133 | 1 | 219 | 0.0046 | 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 | 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 | ||||||
ZDHHC13_chr11_19112168_19181415 | 19124378 | GTTAATAA others(24698): Show |
G | exon_loss_variant | HIGH | NA18985.hp2 | a0005 | a0005c0003 | a0005c0003t0001 | a0005c0003t0001g0196 | 1 | 348 | 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(375): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0007a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(52): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0010 others(134): Show |
378 | 442 | 0.8552 | 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 | |||
ZNF223_chr19_44047036_44072999 | 44066676 | CAG | C | frameshift_variant | HIGH | NA18945.hp2 NA18977.hp2 NA18985.hp1 others(3): Show |
a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0045 a0005c0007t0001g0046 a0005c0007t0001g0128 others(1): Show |
6 | 432 | 0.0139 | -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(136): Show |
a0002a0004a0005others(1): Show | a0002c0003a0002c0004a0004c0005others(2): Show | a0002c0003t0001a0002c0004t0001a0004c0005t0001others(2): Show | a0002c0003t0001g0004 a0002c0003t0001g0006 a0002c0003t0001g0008 others(87): Show |
139 | 406 | 0.3424 | -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(216): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(4): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0010others(11): Show | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0016 others(153): Show |
219 | 376 | 0.5824 | -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(224): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0010a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(90): Show |
227 | 413 | 0.5496 | 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 | a0004c0004t0001g0002 a0004c0004t0001g0037 a0005c0008t0001g0007 others(24): Show |
117 | 411 | 0.2847 | 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 |
a0008a0015a0027others(1): Show | a0008c0014a0008c0023a0015c0025others(2): Show | a0008c0014t0001a0008c0023t0002a0008c0023t0003others(3): Show | a0008c0014t0001g0016 a0008c0023t0002g0052 a0008c0023t0003g0074 others(4): Show |
11 | 414 | 0.0266 | 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 |
a0011a0016a0019others(4): Show | a0011c0016a0016c0026a0019c0036others(4): Show | a0011c0016t0001a0016c0026t0001a0019c0036t0002others(4): Show | a0011c0016t0001g0018 a0016c0026t0001g0028 a0019c0036t0002g0048 others(4): Show |
11 | 414 | 0.0266 | 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(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 | |||
ZNF628_chr19_55471617_55489487 | 55482009 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00597.hp2 HG00642.hp1 others(29): Show |
a0004a0007a0016others(2): Show | a0004c0015a0004c0017a0004c0024others(20): Show | a0004c0015t0001a0004c0017t0001a0004c0024t0001others(20): Show | a0004c0015t0001g0001 a0004c0015t0001g0007 a0004c0015t0001g0017 others(28): Show |
32 | 419 | 0.0764 | 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 |
a0004a0005a0007others(7): Show | a0004c0058a0004c0059a0004c0082others(14): Show | a0004c0058t0001a0004c0059t0001a0004c0082t0001others(14): Show | a0004c0058t0001g0029 a0004c0059t0001g0001 a0004c0082t0001g0131 others(16): Show |
21 | 420 | 0.0500 | 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 | ||
ZNF697_chr1_119614377_119653266 | 119623303 | G | GC | frameshift_variant | HIGH | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(24): Show |
a0002a0005 | a0002c0003a0002c0005a0002c0011others(1): Show | a0002c0003t0002a0002c0003t0004a0002c0003t0005others(18): Show | a0002c0003t0002g0194 a0002c0003t0002g0205 a0002c0003t0002g0210 others(24): Show |
27 | 392 | 0.0689 | 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(158): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(113): Show |
161 | 328 | 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 | a0004c0005t0002 | a0004c0005t0002g0024 a0004c0005t0002g0025 a0004c0005t0002g0089 others(7): Show |
13 | 295 | 0.0441 | 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 | 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 | |||||||
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 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(213): Show |
223 | 322 | 0.6925 | 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 |