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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLX4_chr16_3576181_3616606 | 3589855 | C | CG | frameshift_variant | HIGH | HG00423.hp2 HG00621.hp1 HG00741.hp1 others(8): Show |
a0005a0011a0021others(1): Show | a0005c0014a0005c0033a0005c0042others(6): Show | a0005c0014t0001a0005c0033t0001a0005c0042t0001others(6): Show | a0005c0014t0001g0162 a0005c0014t0001g0186 a0005c0014t0001g0187 others(8): Show |
11 | 382 | 0.0288 | 1 | c.378 others(5): Show |
p.Leu others(6): Show |
SLX4 | ENSG00000188827.12 | transcript | ENST00000294008.4 | protein_coding | 12/15 | 4431/7315 | 3782/5505 | 1261/1834 | chr16 | TogoVar | |||
SNED1_chr2_240993618_241100568 | 240998897 | C | CG | frameshift_variant | HIGH | HG01934.hp1 HG01993.hp1 HG03654.hp2 others(5): Show |
a0007 | a0007c0027a0007c0038a0007c0039others(4): Show | a0007c0027t0001a0007c0027t0002a0007c0038t0018others(5): Show | a0007c0027t0001g0267 a0007c0027t0002g0012 a0007c0038t0018g0159 others(5): Show |
8 | 342 | 0.0234 | 1 | c.64d others(3): Show |
p.Val others(4): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/32 | 285/8394 | 65/4242 | 22/1413 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
SPDYE21_chr7_67271941_67294005 | 67281505 | T | TGGGTGGC | frameshift_variant | HIGH | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(128): Show |
a0002a0009a0013others(2): Show | a0002c0002a0002c0010a0009c0011others(3): Show | a0002c0002t0001a0002c0002t0009a0002c0002t0018others(6): Show | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0005 others(50): Show |
131 | 458 | 0.2860 | 7 | c.514 others(14): Show |
p.Glu others(5): Show |
SPDYE21 | ENSG00000230358.6 | transcript | ENST00000424157.4 | protein_coding | 4/9 | 1065/3286 | 521/1209 | 174/402 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||
SPDYE2_chr7_102546226_102568538 | 102551289 | G | C | splice_donor_variant others(1): Show |
HIGH | HG00609.hp2 HG01070.hp1 HG01515.hp2 others(24): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0015others(11): Show | a0001c0001t0001g0018 a0001c0001t0001g0027 a0001c0001t0001g0028 others(24): Show |
27 | 164 | 0.1646 | 0 | c.-42 others(6): Show |
SPDYE2 | ENSG00000205238.12 | transcript | ENST00000691607.2 | protein_coding | 1/8 | chr7 | TogoVar | |||||||
SPOCD1_chr1_31785422_31821022 | 31814789 | GGGCTTCT others(27): Show |
G | frameshift_variant | HIGH | HG04204.hp2 | a0018 | a0018c0011 | a0018c0011t0001 | a0018c0011t0001g0072 | 1 | 258 | 0.0039 | -34 | c.511 others(41): Show |
p.Gly others(5): Show |
SPOCD1 | ENSG00000134668.13 | transcript | ENST00000360482.7 | protein_coding | 2/16 | 645/3933 | 511/3651 | 171/1216 | chr1 | TogoVar | |||
SPON2_chr4_1161932_1177583 | 1171887 | A | AG | frameshift_variant | HIGH | HG01074.hp1 HG01257.hp2 HG01978.hp2 others(15): Show |
a0004a0010 | a0004c0006a0004c0009a0004c0012others(4): Show | a0004c0006t0001a0004c0009t0001a0004c0012t0001others(4): Show | a0004c0006t0001g0010 a0004c0006t0001g0016 a0004c0009t0001g0023 others(6): Show |
18 | 429 | 0.0420 | 1 | c.184 others(4): Show |
p.Leu others(4): Show |
SPON2 | ENSG00000159674.12 | transcript | ENST00000290902.10 | protein_coding | 2/6 | 227/1579 | 184/996 | 62/331 | chr4 | TogoVar | |||
SYNE2_chr14_63848004_64231433 | 63993818 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00438.hp2 HG00609.hp2 others(75): Show |
a0001a0002a0003others(38): Show | a0001c0004a0001c0005a0001c0009others(51): Show | a0001c0004t0002a0001c0005t0001a0001c0005t0003others(59): Show | a0001c0004t0002g0071 a0001c0005t0001g0032 a0001c0005t0003g0044 others(75): Show |
78 | 143 | 0.5455 | 1 | c.264 others(7): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 21/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
TAF4_chr20_61969798_62070881 | 62064985 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00741.hp1 HG01192.hp1 others(8): Show |
a0002 | a0002c0007a0002c0020a0002c0021others(2): Show | a0002c0007t0001a0002c0020t0001a0002c0021t0001others(2): Show | a0002c0007t0001g0017 a0002c0007t0001g0018 a0002c0007t0001g0020 others(8): Show |
11 | 312 | 0.0353 | 1 | c.825 others(4): Show |
p.Ala others(5): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 1/15 | 896/4699 | 825/3258 | 275/1085 | chr20 | 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 | ||
TBC1D19_chr4_26579084_26761223 | 26735441 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(269): Show |
273 | 307 | 0.8893 | 1 | c.108 others(7): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
TBCD_chr17_82747065_82950914 | 82797739 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(115): Show |
a0001a0002a0006others(8): Show | a0001c0001a0001c0002a0001c0014others(17): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0026others(31): Show | a0001c0001t0002g0223 a0001c0001t0002g0262 a0001c0001t0002g0301 others(115): Show |
118 | 268 | 0.4403 | 1 | c.772 others(6): Show |
TBCD | ENSG00000141556.22 | transcript | ENST00000355528.9 | protein_coding | 7/38 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TDRD12_chr19_32714767_32834580 | 32826678 | AAC | A | splice_acceptor_variant others(2): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00558.hp1 others(112): Show |
a0002a0003a0005others(6): Show | a0002c0003a0002c0010a0003c0002others(7): Show | a0002c0003t0001a0002c0003t0011a0002c0003t0033others(20): Show | a0002c0003t0001g0003 a0002c0003t0001g0004 a0002c0003t0001g0098 others(110): Show |
115 | 378 | 0.3042 | -2 | c.382 others(15): Show |
TDRD12 | ENSG00000173809.18 | transcript | ENST00000639142.2 | protein_coding | 31/32 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
TEX26_chr13_30927656_30980500 | 30956872 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(99): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(77): Show |
102 | 412 | 0.2476 | 0 | c.313 others(5): Show |
TEX26 | ENSG00000175664.10 | transcript | ENST00000380473.8 | protein_coding | 3/6 | chr13 | TogoVar | |||||||
TIGD6_chr5_149988118_150005654 | 149995316 | CT | C | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(189): Show |
a0001a0004a0009others(5): Show | a0001c0001a0001c0017a0004c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0014 a0001c0001t0001g0026 others(26): Show |
192 | 434 | 0.4424 | -1 | c.103 others(5): Show |
p.Glu others(5): Show |
TIGD6 | ENSG00000164296.7 | transcript | ENST00000296736.4 | protein_coding | 2/2 | 1294/3493 | 1032/1566 | 344/521 | chr5 | TogoVar | |||
TMEM216_chr11_61387587_61403846 | 61398269 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(172): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0005t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0011 others(23): Show |
175 | 267 | 0.6554 | 0 | c.432 others(5): Show |
TMEM216 | ENSG00000187049.11 | transcript | ENST00000515837.7 | protein_coding | 4/4 | chr11 | TogoVar | |||||||
TMPRSS3_chr21_42366890_42401052 | 42383199 | C | CTA | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp1 HG00408.hp2 HG00621.hp2 others(99): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0003a0002c0007others(6): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(16): Show | a0001c0001t0001g0251 a0002c0003t0001g0007 a0002c0003t0001g0011 others(80): Show |
102 | 470 | 0.2170 | 2 | c.617 others(13): Show |
TMPRSS3 | ENSG00000160183.17 | transcript | ENST00000644384.2 | protein_coding | 7/12 | chr21 | TogoVar | |||||||
TNK2_chr3_195858364_195913551 | 195868357 | C | CG | frameshift_variant | HIGH | HG00597.hp1 HG00621.hp1 HG00639.hp1 others(50): Show |
a0002a0010a0011others(3): Show | a0002c0004a0002c0008a0002c0010others(20): Show | a0002c0004t0001a0002c0004t0002a0002c0008t0001others(24): Show | a0002c0004t0001g0133 a0002c0004t0001g0251 a0002c0004t0001g0261 others(50): Show |
53 | 370 | 0.1432 | 1 | c.194 others(5): Show |
p.Pro others(5): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 13/16 | 2025/4070 | 1940/3168 | 647/1055 | chr3 | TogoVar | |||
TPSD1_chr16_1251069_1264008 | 1256558 | AG | A | frameshift_variant | HIGH | HG00140.hp1 HG00423.hp2 HG00639.hp2 others(69): Show |
a0002a0004 | a0002c0002a0002c0012a0002c0018others(3): Show | a0002c0002t0002a0002c0002t0008a0002c0002t0016others(23): Show | a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0014 others(28): Show |
72 | 268 | 0.2687 | -1 | c.127 others(4): Show |
p.Glu others(4): Show |
TPSD1 | ENSG00000095917.15 | transcript | ENST00000211076.5 | protein_coding | 2/5 | 339/1573 | 127/729 | 43/242 | INFO_REALIGN_3_PRIME | chr16 | 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 | |||
TRIM73_chr7_75390629_75410605 | 75403732 | C | T | stop_gained | HIGH | HG00140.hp1 HG01123.hp1 HG01168.hp2 others(43): Show |
a0002a0008 | a0002c0002a0008c0008 | a0002c0002t0001a0008c0008t0001 | a0002c0002t0001g0006 a0002c0002t0001g0007 a0002c0002t0001g0019 others(14): Show |
46 | 322 | 0.1429 | 0 | c.487 others(3): Show |
p.Arg others(4): Show |
TRIM73 | ENSG00000178809.12 | transcript | ENST00000323819.8 | protein_coding | 3/5 | 687/1350 | 487/753 | 163/250 | chr7 | TogoVar | |||
TTN_chr2_178520989_178812423 | 178655278 | ATATCTCA others(4253): Show |
A | exon_loss_variant | HIGH | HG01099.hp1 HG01978.hp2 HG04204.hp2 others(3): Show |
a0045a0060a0138others(3): Show | a0045c0063a0060c0130a0138c0132others(3): Show | a0045c0063t0002a0060c0130t0002a0138c0132t0002others(3): Show | a0045c0063t0002g0155 a0060c0130t0002g0103 a0138c0132t0002g0233 others(3): Show |
6 | 170 | 0.0353 | -4260 | c.372 others(19): Show |
TTN | ENSG00000155657.29 | transcript | ENST00000589042.5 | protein_coding | 189/363 | chr2 | 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 | |||||||
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 | |||
UBAP1L_chr15_65087760_65120200 | 65102174 | C | CG | frameshift_variant | HIGH | HG00642.hp1 HG01106.hp1 HG01106.hp2 others(6): Show |
a0002 | a0002c0002a0002c0008 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(1): Show | a0002c0002t0001g0065 a0002c0002t0001g0071 a0002c0002t0001g0089 others(6): Show |
9 | 230 | 0.0391 | 1 | c.630 others(4): Show |
p.Ala others(5): Show |
UBAP1L | ENSG00000246922.10 | transcript | ENST00000559089.6 | protein_coding | 3/6 | 854/1707 | 630/1146 | 210/381 | chr15 | TogoVar | |||
UMAD1_chr7_7635752_7884223 | 7673310 | T | TAGCAGC | start_lost others(1): Show |
HIGH | HG00741.hp2 HG01167.hp1 HG01928.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0016a0001c0001t0023others(1): Show | a0001c0001t0015g0111 a0001c0001t0015g0113 a0001c0001t0015g0137 others(10): Show |
13 | 52 | 0.2500 | 6 | c.-6_ others(11): Show |
UMAD1 | ENSG00000219545.12 | transcript | ENST00000682710.1 | protein_coding | 2/4 | 134/2232 | 1/414 | 1/137 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||
UNC93A_chr6_167286315_167321014 | 167296214 | G | A | stop_gained | HIGH | HG00408.hp2 HG00438.hp1 HG00544.hp2 others(51): Show |
a0004 | a0004c0004a0004c0008a0004c0011others(4): Show | a0004c0004t0003a0004c0004t0006a0004c0008t0001others(6): Show | a0004c0004t0003g0006 a0004c0004t0003g0011 a0004c0004t0003g0029 others(42): Show |
54 | 446 | 0.1211 | 0 | c.452 others(3): Show |
p.Trp others(4): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 3/8 | 627/2111 | 452/1374 | 151/457 | chr6 | TogoVar | |||
USP17L25_chr4_9324911_9336503 | 9331318 | A | T | stop_gained | HIGH | HG03942.hp1 HG03942.hp2 HG04204.hp1 others(3): Show |
a0002a0009 | a0002c0002a0002c0017a0009c0018 | a0002c0002t0001a0002c0017t0001a0009c0018t0001 | a0002c0002t0001g0000 a0002c0017t0001g0000 a0009c0018t0001g0000 |
6 | 32 | 0.1875 | 0 | c.140 others(4): Show |
p.Lys others(4): Show |
USP17L25 | ENSG00000230430.5 | transcript | ENST00000509271.1 | protein_coding | 1/1 | 1408/1593 | 1408/1593 | 470/530 | chr4 | TogoVar | |||
USP45_chr6_99427325_99520423 | 99446136 | T | A | stop_gained | HIGH | HG04204.hp1 | a0009 | a0009c0022 | a0009c0022t0014 | a0009c0022t0014g0143 | 1 | 404 | 0.0025 | 0 | c.163 others(4): Show |
p.Lys others(4): Show |
USP45 | ENSG00000123552.18 | transcript | ENST00000500704.7 | protein_coding | 14/18 | 1678/5878 | 1636/2445 | 546/814 | chr6 | 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 | |||
VWDE_chr7_12325885_12408865 | 12351642 | T | TA | frameshift_variant | HIGH | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(69): Show |
a0002a0009a0012others(7): Show | a0002c0002a0002c0042a0002c0043others(9): Show | a0002c0002t0002a0002c0042t0002a0002c0043t0002others(10): Show | a0002c0002t0002g0001 a0002c0002t0002g0002 a0002c0002t0002g0007 others(36): Show |
72 | 372 | 0.1935 | 1 | c.381 others(5): Show |
p.Lys others(6): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 19/29 | 3965/5220 | 3816/4773 | 1272/1590 | chr7 | TogoVar | |||
ZAN_chr7_100728595_100802797 | 100779751 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(77): Show |
a0003a0004a0008others(10): Show | a0003c0002a0003c0095a0003c0098others(15): Show | a0003c0002t0002a0003c0095t0002a0003c0098t0002others(15): Show | a0003c0002t0002g0001 a0003c0002t0002g0002 a0003c0002t0002g0005 others(76): Show |
80 | 306 | 0.2614 | 0 | c.662 others(6): Show |
ZAN | ENSG00000146839.19 | transcript | ENST00000613979.5 | protein_coding | 35/47 | chr7 | TogoVar | |||||||
ZDHHC11B_chr5_705355_789729 | 766918 | A | C | start_lost others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(212): Show |
a0001a0012 | a0001c0001a0001c0002a0001c0003others(37): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0012others(77): Show | a0001c0001t0001g0003 a0001c0001t0001g0060 a0001c0001t0001g0061 others(207): Show |
215 | 270 | 0.7963 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
ZDHHC11B | ENSG00000206077.14 | transcript | ENST00000508859.8 | protein_coding | 4/14 | 293/3342 | 2/1116 | 1/371 | chr5 | TogoVar | |||
ZIC5_chr13_99957964_99976767 | 99971172 | C | CG | frameshift_variant | HIGH | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(61): Show |
a0003a0008a0018 | a0003c0003a0003c0004a0003c0020others(9): Show | a0003c0003t0001a0003c0003t0003a0003c0003t0004others(29): Show | a0003c0003t0001g0003 a0003c0003t0001g0080 a0003c0003t0003g0035 others(34): Show |
64 | 406 | 0.1576 | 1 | c.431 others(4): Show |
p.Pro others(5): Show |
ZIC5 | ENSG00000139800.9 | transcript | ENST00000267294.5 | protein_coding | 1/2 | 595/4497 | 431/1920 | 144/639 | chr13 | 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 | |||
ZNF383_chr19_37213214_37253740 | 37224802 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00609.hp1 HG00673.hp2 HG01081.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0012others(10): Show | a0001c0001t0002g0020 a0001c0001t0002g0045 a0001c0001t0002g0234 others(37): Show |
45 | 401 | 0.1122 | 1 | c.-16 others(7): Show |
ZNF383 | ENSG00000188283.12 | transcript | ENST00000684119.1 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF443_chr19_12424706_12446021 | 12430157 | T | A | stop_lost | HIGH | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(106): Show |
a0002a0004a0007others(2): Show | a0002c0002a0002c0007a0002c0016others(4): Show | a0002c0002t0002a0002c0002t0006a0002c0002t0007others(7): Show | a0002c0002t0002g0002 a0002c0002t0002g0017 a0002c0002t0002g0025 others(33): Show |
109 | 408 | 0.2672 | 0 | c.201 others(4): Show |
p.Ter others(11): Show |
ZNF443 | ENSG00000180855.16 | transcript | ENST00000301547.10 | protein_coding | 4/4 | 2122/2573 | 2015/2016 | 672/671 | 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 | ||
ZNF544_chr19_58223914_58268644 | 58262449 | C | T | stop_gained | HIGH | HG04204.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0184 | 1 | 392 | 0.0026 | 0 | c.184 others(4): Show |
p.Arg others(4): Show |
ZNF544 | ENSG00000198131.15 | transcript | ENST00000687789.1 | protein_coding | 7/7 | 2107/3302 | 1843/2148 | 615/715 | chr19 | TogoVar | |||
ZNF567_chr19_36682612_36726336 | 36689395 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(154): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0002c0006others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(89): Show |
157 | 384 | 0.4089 | 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 | 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 | |||
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 | 55482244 | G | GC | frameshift_variant | HIGH | HG00323.hp1 HG00597.hp1 HG00642.hp2 others(22): Show |
a0004a0005a0007others(3): Show | a0004c0054a0004c0055a0004c0082others(13): Show | a0004c0054t0001a0004c0055t0001a0004c0082t0001others(13): Show | a0004c0054t0001g0128 a0004c0055t0001g0043 a0004c0082t0001g0131 others(20): Show |
25 | 420 | 0.0595 | 1 | c.105 others(5): Show |
p.Ala others(5): Show |
ZNF628 | ENSG00000197483.11 | transcript | ENST00000598519.2 | protein_coding | 3/3 | 1325/3562 | 1057/3180 | 353/1059 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
ZNF721_chr4_434988_504156 | 441751 | CAG | C | frameshift_variant | HIGH | HG02965.hp1 HG04199.hp1 HG04204.hp1 others(2): Show |
a0005 | a0005c0006 | a0005c0006t0004 | a0005c0006t0004g0099 a0005c0006t0004g0165 a0005c0006t0004g0185 others(2): Show |
5 | 322 | 0.0155 | -2 | c.271 others(11): Show |
p.Ser others(5): Show |
ZNF721 | ENSG00000182903.16 | transcript | ENST00000511833.3 | protein_coding | 3/3 | 2909/4673 | 2714/2772 | 905/923 | chr4 | TogoVar | |||
ZNF776_chr19_57741815_57763148 | 57754559 | C | T | stop_gained | HIGH | HG04204.hp2 | a0004 | a0004c0011 | a0004c0011t0002 | a0004c0011t0002g0003 | 1 | 416 | 0.0024 | 0 | c.142 others(4): Show |
p.Arg others(4): Show |
ZNF776 | ENSG00000152443.13 | transcript | ENST00000317178.10 | protein_coding | 3/3 | 1673/5262 | 1429/1557 | 477/518 | chr19 | TogoVar | |||
ZNF787_chr19_56082366_56126295 | 56088492 | A | AC | frameshift_variant | HIGH | HG00735.hp1 HG01099.hp2 HG01243.hp1 others(19): Show |
a0004a0009a0010others(1): Show | a0004c0004a0004c0005a0004c0019others(4): Show | a0004c0004t0001a0004c0004t0003a0004c0004t0004others(15): Show | a0004c0004t0001g0258 a0004c0004t0003g0197 a0004c0004t0003g0220 others(19): Show |
22 | 406 | 0.0542 | 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 | |||
ZNF80_chr3_114229631_114242578 | 114236340 | A | C | stop_gained | HIGH | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(64): Show |
a0003a0010 | a0003c0003a0010c0009 | a0003c0003t0003a0003c0003t0007a0003c0003t0014others(4): Show | a0003c0003t0003g0000 a0003c0003t0007g0000 a0003c0003t0014g0000 others(4): Show |
67 | 424 | 0.1580 | 0 | c.735 others(3): Show |
p.Tyr others(4): Show |
ZNF80 | ENSG00000174255.8 | transcript | ENST00000482457.4 | protein_coding | 1/1 | 1239/2948 | 735/822 | 245/273 | chr3 | 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 |