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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TAP2_chr6_32820415_32843739 | 32828908 | A | G | stop_lost | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(156): Show |
a0000 | a0000c0002a0000c0006a0000c0008others(19): Show | a0000c0002t0001a0000c0002t0003a0000c0002t0025others(28): Show | a0000c0002t0001g0001a0000c0002t0001g0037a0000c0002t0001g0040others(70): Show | 159 | 485 | 0.3278 | 0 | c.205 others(4): Show |
p.Ter others(11): Show |
TAP2 | ENSG00000204267.19 | transcript | ENST00000374897.4 | protein_coding | 12/12 | 2150/5643 | 2059/2061 | 687/686 | chr6 | TogoVar | ||
TBC1D19_chr4_26579084_26761223 | 26735441 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(270): Show | 274 | 310 | 0.8839 | 1 | c.108 others(7): Show |
TBC1D19 | ENSG00000109680.11 | transcript | ENST00000264866.9 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
TBC1D31_chr8_123067707_123157153 | 123142457 | G | T | splice_donor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp2 HG00438.hp2 others(86): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0001a0001c0003t0001a0001c0008t0001others(6): Show | a0001c0001t0001g0003a0001c0001t0001g0043a0001c0001t0001g0162others(85): Show | 89 | 322 | 0.2764 | 0 | c.283 others(6): Show |
TBC1D31 | ENSG00000156787.17 | transcript | ENST00000287380.6 | protein_coding | 19/21 | chr8 | TogoVar | ||||||
TBKBP1_chr17_47689161_47717052 | 47709405 | A | AC | frameshift_variant | HIGH | HG02970.hp2 HG03516.hp2 NA18981.hp1 others(6): Show |
a0002a0005a0014others(1): Show | a0002c0024a0005c0009a0005c0015others(2): Show | a0002c0024t0001a0005c0009t0001a0005c0015t0001others(2): Show | a0002c0024t0001g0083a0005c0009t0001g0005a0005c0009t0001g0059others(6): Show | 9 | 386 | 0.0233 | 1 | c.167 others(5): Show |
p.Ala others(5): Show |
TBKBP1 | ENSG00000198933.11 | transcript | ENST00000578982.6 | protein_coding | 9/10 | 1743/3342 | 1675/1848 | 559/615 | 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 | a0002c0003t0001g0002a0002c0003t0001g0003a0002c0003t0001g0174others(110): Show | 115 | 380 | 0.3026 | -2 | c.382 others(15): Show |
TDRD12 | ENSG00000173809.18 | transcript | ENST00000639142.2 | protein_coding | 31/32 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
TEDC1_chr14_105486246_105504248 | 105497878 | C | CG | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp1 HG00597.hp1 others(27): Show |
a0000 | a0000c0003a0000c0010a0000c0011others(4): Show | a0000c0003t0001a0000c0003t0003a0000c0003t0005others(8): Show | a0000c0003t0001g0002a0000c0003t0001g0006a0000c0003t0001g0009others(23): Show | 30 | 436 | 0.0688 | 1 | c.106 others(5): Show |
p.Gly others(5): Show |
TEDC1 | ENSG00000185347.19 | transcript | ENST00000392523.9 | protein_coding | 8/9 | 1195/1920 | 1065/1488 | 355/495 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
TEPSIN_chr17_81223277_81244055 | 81238942 | GAGGAGCC others(4283): Show |
G | exon_loss_variant others(1): Show |
HIGH | NA18994.hp2 | a0018 | a0018c0030 | a0018c0030t0013 | a0018c0030t0013g0040 | 1 | 366 | 0.0027 | -4290 | c.-41 others(11): Show |
TEPSIN | ENSG00000167302.11 | transcript | ENST00000637944.2 | protein_coding | 1/13 | chr17 | 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 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(88): Show | 102 | 414 | 0.2464 | 0 | c.313 others(5): Show |
TEX26 | ENSG00000175664.10 | transcript | ENST00000380473.8 | protein_coding | 3/6 | chr13 | TogoVar | ||||||
TEX9_chr15_56360426_56435154 | 56423393 | GTCCGCTG others(11471): Show |
G | exon_loss_variant | HIGH | NA18994.hp2 | a0000 | a0000c0008 | a0000c0008t0014 | a0000c0008t0014g0146 | 1 | 380 | 0.0026 | -11478 | c.964 others(14): Show |
TEX9 | ENSG00000151575.15 | transcript | ENST00000696102.1 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
TIGIT_chr3_114289028_114315288 | 114294100 | GAGGCAGG others(13): Show |
G | frameshift_variant others(3): Show |
HIGH | NA18994.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0261 | 1 | 424 | 0.0024 | -20 | c.43_ others(27): Show |
p.Gln others(4): Show |
TIGIT | ENSG00000181847.12 | transcript | ENST00000383671.8 | protein_coding | 1/4 | 77/2926 | 43/735 | 15/244 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
TIGIT_chr3_114289028_114315288 | 114294206 | ACTCCAAG others(3293): Show |
A | exon_loss_variant others(4): Show |
HIGH | NA18994.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0261 | 1 | 424 | 0.0024 | -3300 | c.61+ others(14): Show |
TIGIT | ENSG00000181847.12 | transcript | ENST00000383671.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
TLR8_chrX_12901620_12928169 | 12906707 | A | G | start_lost others(1): Show |
HIGH | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(162): Show |
a0001a0004a0005others(2): Show | a0001c0001a0001c0004a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0008a0001c0004t0001others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0011others(44): Show | 165 | 303 | 0.5446 | 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 | ||
TMEM216_chr11_61387587_61403846 | 61398269 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00408.hp1 HG00408.hp2 others(173): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0008a0001c0005t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0011others(24): Show | 176 | 270 | 0.6519 | 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 | a0001c0001t0001g0251a0002c0003t0001g0007a0002c0003t0001g0011others(80): Show | 102 | 472 | 0.2161 | 2 | c.617 others(13): Show |
TMPRSS3 | ENSG00000160183.17 | transcript | ENST00000644384.2 | protein_coding | 7/12 | chr21 | TogoVar | ||||||
TMPRSS6_chr22_37060436_37114713 | 37069345 | CTGGGG | C | splice_acceptor_variant others(2): Show |
HIGH | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(122): Show |
a0001a0002a0003others(2): Show | a0001c0005a0001c0006a0001c0009others(21): Show | a0001c0005t0001a0001c0005t0002a0001c0006t0001others(22): Show | a0001c0005t0001g0082a0001c0005t0001g0120a0001c0005t0001g0121others(118): Show | 125 | 348 | 0.3592 | -5 | c.184 others(18): Show |
TMPRSS6 | ENSG00000187045.19 | transcript | ENST00000676104.1 | protein_coding | 15/17 | chr22 | TogoVar | ||||||
TSPAN32_chr11_2297013_2323204 | 2304206 | T | A | splice_donor_variant others(1): Show |
HIGH | NA18994.hp1 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0228 | 1 | 412 | 0.0024 | 0 | c.279 others(5): Show |
TSPAN32 | ENSG00000064201.16 | transcript | ENST00000182290.9 | protein_coding | 3/9 | chr11 | TogoVar | ||||||
TYW1B_chr7_72569513_72833200 | 72728896 | C | T | stop_gained | HIGH | HG00280.hp1 HG00323.hp1 HG00558.hp2 others(118): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0007a0001c0018others(11): Show | a0001c0001t0001a0001c0007t0001a0001c0018t0001others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(118): Show | 121 | 286 | 0.4231 | 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(209): Show |
a0001a0004a0005others(5): Show | a0001c0001a0001c0002a0001c0006others(18): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(19): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(209): Show | 212 | 286 | 0.7413 | 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 | ||
UGT1A9_chr2_233666898_233778300 | 233671935 | A | G | start_lost | HIGH | NA18994.hp1 | a0011 | a0011c0016 | a0011c0016t0001 | a0011c0016t0001g0267 | 1 | 318 | 0.0031 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/5 | 38/2371 | 1/1593 | 1/530 | chr2 | TogoVar | ||
UGT1A9_chr2_233666898_233778300 | 233672660 | T | G | stop_gained | HIGH | NA18994.hp2 | a0005 | a0005c0008 | a0005c0008t0001 | a0005c0008t0001g0078 | 1 | 318 | 0.0031 | 0 | c.726 others(3): Show |
p.Tyr others(4): Show |
UGT1A9 | ENSG00000241119.2 | transcript | ENST00000354728.5 | protein_coding | 1/5 | 763/2371 | 726/1593 | 242/530 | chr2 | TogoVar | ||
UGT2B10_chr4_68810994_68837023 | 68822269 | A | C | splice_acceptor_variant others(1): Show |
HIGH | HG00609.hp2 HG01167.hp2 HG01884.hp2 others(60): Show |
a0001a0004a0005others(3): Show | a0001c0001a0001c0023a0004c0006others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(6): Show | a0001c0001t0001g0007a0001c0001t0001g0008a0001c0001t0001g0013others(19): Show | 63 | 461 | 0.1367 | 0 | c.868 others(5): Show |
UGT2B10 | ENSG00000109181.12 | transcript | ENST00000265403.12 | protein_coding | 2/5 | chr4 | 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 | a0004c0004t0003g0005a0004c0004t0003g0010a0004c0004t0003g0028others(43): Show | 54 | 448 | 0.1205 | 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 | ||
USP6_chr17_5111032_5179991 | 5130090 | G | T | splice_donor_variant others(1): Show |
HIGH | NA18983.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028a0001c0001t0001g0111 | 2 | 362 | 0.0055 | 0 | c.-2+ others(4): Show |
USP6 | ENSG00000129204.17 | transcript | ENST00000574788.6 | protein_coding | 9/37 | chr17 | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8464991 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(134): Show |
a0000a0001a0003others(40): Show | a0000c0083a0001c0001a0001c0088others(48): Show | a0000c0083t0031a0001c0001t0001a0001c0001t0008others(61): Show | a0000c0083t0031g0037a0001c0001t0001g0001a0001c0001t0001g0014others(72): Show | 137 | 271 | 0.5055 | 0 | c.-14 others(6): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 1/2 | chrX | 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 | ||
VWDE_chr7_12325885_12408865 | 12351642 | T | TA | frameshift_variant | HIGH | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(69): Show |
a0002a0008a0011others(7): Show | a0002c0002a0002c0046a0002c0047others(9): Show | a0002c0002t0004a0002c0046t0004a0002c0047t0007others(11): Show | a0002c0002t0004g0001a0002c0002t0004g0002a0002c0002t0004g0003others(43): Show | 72 | 374 | 0.1925 | 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 | ||
VWDE_chr7_12325885_12408865 | 12375099 | G | A | stop_gained | HIGH | HG00099.hp1 HG00423.hp1 HG00558.hp1 others(70): Show |
a0002a0008a0011others(3): Show | a0002c0002a0002c0043a0002c0044others(12): Show | a0002c0002t0004a0002c0043t0005a0002c0044t0014others(12): Show | a0002c0002t0004g0001a0002c0002t0004g0002a0002c0002t0004g0003others(44): Show | 73 | 374 | 0.1952 | 0 | c.115 others(4): Show |
p.Arg others(4): Show |
VWDE | ENSG00000146530.15 | transcript | ENST00000275358.8 | protein_coding | 8/29 | 1302/5220 | 1153/4773 | 385/1590 | chr7 | TogoVar | ||
XPNPEP2_chrX_129733979_129774536 | 129754487 | G | GC | frameshift_variant | HIGH | NA18994.hp1 | a0015 | a0015c0012 | a0015c0012t0004 | a0015c0012t0004g0079 | 1 | 310 | 0.0032 | 1 | c.112 others(5): Show |
p.Val others(5): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 12/21 | 1360/3311 | 1125/2025 | 375/674 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
XPNPEP2_chrX_129733979_129774536 | 129754496 | C | CT | frameshift_variant | HIGH | NA18994.hp1 | a0015 | a0015c0012 | a0015c0012t0004 | a0015c0012t0004g0079 | 1 | 310 | 0.0032 | 1 | c.113 others(10): Show |
p.Arg others(5): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 12/21 | 1368/3311 | 1133/2025 | 378/674 | 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 | |||||
ZDHHC11B_chr5_705355_789729 | 766918 | A | C | start_lost others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(212): Show |
a0001a0021 | a0001c0001a0001c0002a0001c0003others(37): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0017others(86): Show | a0001c0001t0001g0003a0001c0001t0001g0062a0001c0001t0001g0063others(207): Show | 215 | 271 | 0.7934 | 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 | ||
ZFYVE19_chr15_40802089_40820084 | 40807701 | T | TGGGGC | frameshift_variant | HIGH | HG00099.hp2 HG00544.hp2 HG00558.hp1 others(115): Show |
a0002a0005a0006others(1): Show | a0002c0002a0002c0016a0002c0017others(3): Show | a0002c0002t0003a0002c0002t0005a0002c0002t0008others(8): Show | a0002c0002t0003g0002a0002c0002t0003g0007a0002c0002t0003g0011others(23): Show | 118 | 382 | 0.3089 | 5 | c.118 others(12): Show |
p.Arg others(4): Show |
ZFYVE19 | ENSG00000166140.17 | transcript | ENST00000355341.8 | protein_coding | 1/11 | 624/2775 | 123/1416 | 41/471 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
ZIC5_chr13_99957964_99976767 | 99971172 | C | CG | frameshift_variant | HIGH | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(61): Show |
a0003a0010a0016 | a0003c0003a0003c0004a0003c0021others(9): Show | a0003c0003t0001a0003c0003t0003a0003c0003t0004others(29): Show | a0003c0003t0001g0003a0003c0003t0001g0080a0003c0003t0003g0035others(34): Show | 64 | 410 | 0.1561 | 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(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 | ||
ZNF226_chr19_44160100_44182685 | 44165143 | G | T | splice_donor_variant others(1): Show |
HIGH | NA18994.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0126 | 1 | 398 | 0.0025 | 0 | c.-98 others(5): Show |
ZNF226 | ENSG00000167380.17 | transcript | ENST00000337433.10 | protein_coding | 1/5 | 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 | ||
ZNF404_chr19_43867365_43888964 | 43873682 | G | A | stop_gained | HIGH | NA18994.hp2 | a0011 | a0011c0018 | a0011c0018t0002 | a0011c0018t0002g0081 | 1 | 386 | 0.0026 | 0 | c.532 others(3): Show |
p.Arg others(4): Show |
ZNF404 | ENSG00000176222.10 | transcript | ENST00000587539.2 | protein_coding | 3/3 | 532/1849 | 532/1659 | 178/552 | chr19 | TogoVar | ||
ZNF443_chr19_12424706_12446021 | 12430157 | T | A | stop_lost | HIGH | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(106): Show |
a0000 | a0000c0002a0000c0005a0000c0008others(4): Show | a0000c0002t0002a0000c0002t0005a0000c0002t0006others(7): Show | a0000c0002t0002g0002a0000c0002t0002g0017a0000c0002t0002g0025others(33): Show | 109 | 410 | 0.2659 | 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 | ||
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 | ||||||
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 |