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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SEMA6B_chr19_4537593_4564684 | 4543686 | C | CG | frameshift_variant | HIGH | HG02602.hp2 NA18955.hp1 NA18955.hp2 others(5): Show |
a0000 | a0000c0004a0000c0010 | a0000c0004t0001a0000c0010t0001a0000c0010t0002 | a0000c0004t0001g0170a0000c0004t0001g0210a0000c0004t0001g0214others(5): Show | 8 | 440 | 0.0182 | 1 | c.258 others(5): Show |
p.Arg others(5): Show |
SEMA6B | ENSG00000167680.17 | transcript | ENST00000586582.6 | protein_coding | 17/17 | 2768/3862 | 2581/2667 | 861/888 | chr19 | TogoVar | ||
SETSIP_chr1_92069533_92080411 | 92075125 | A | AC | frameshift_variant | HIGH | HG00438.hp2 HG00621.hp2 HG00673.hp1 others(14): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0000a0002c0004t0000 | a0002c0002t0000g0000a0002c0004t0000g0000 | 17 | 363 | 0.0468 | 1 | c.286 others(4): Show |
p.Val others(4): Show |
SETSIP | ENSG00000230667.7 | transcript | ENST00000596516.3 | protein_coding | 1/1 | 286/879 | 286/879 | 96/292 | chr1 | TogoVar | ||
SIGLEC12_chr19_51486227_51506800 | 51501537 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(226): Show |
a0001a0003a0005others(3): Show | a0001c0002a0001c0003a0001c0010others(23): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(27): Show | a0001c0002t0001g0001a0001c0002t0001g0004a0001c0002t0001g0012others(92): Show | 229 | 432 | 0.5301 | 1 | c.196 others(4): Show |
p.Ala others(4): Show |
SIGLEC12 | ENSG00000254521.7 | transcript | ENST00000291707.8 | protein_coding | 1/8 | 263/2269 | 196/1788 | 66/595 | chr19 | TogoVar | ||
SLC22A31_chr16_89190761_89205537 | 89196258 | GCCTGGCC others(74): Show |
G | frameshift_variant others(3): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(170): Show |
a0002a0005a0006others(4): Show | a0002c0002a0002c0004a0002c0007others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(10): Show | a0002c0002t0001g0002a0002c0002t0001g0010a0002c0002t0001g0014others(30): Show | 173 | 428 | 0.4042 | -81 | c.103 others(93): Show |
p.Arg others(5): Show |
SLC22A31 | ENSG00000259803.8 | transcript | ENST00000682282.1 | protein_coding | 9/9 | 1117/1615 | 1035/1341 | 345/446 | chr16 | TogoVar | ||
SLC22A31_chr16_89190761_89205537 | 89198106 | GGGGCCCC others(11): Show |
G | splice_donor_variant others(3): Show |
HIGH | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(28): Show |
a0004a0017 | a0004c0006a0004c0009a0017c0022 | a0004c0006t0001a0004c0009t0001a0017c0022t0001 | a0004c0006t0001g0006a0004c0006t0001g0029a0004c0009t0001g0008others(1): Show | 31 | 428 | 0.0724 | -18 | c.920 others(28): Show |
p.Gln others(19): Show |
SLC22A31 | ENSG00000259803.8 | transcript | ENST00000682282.1 | protein_coding | 7/9 | 920/1341 | 307/446 | chr16 | TogoVar | |||
SLC35G6_chr17_7476446_7488496 | 7482961 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(314): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0009a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0005g0001others(13): Show | 317 | 412 | 0.7694 | 0 | c.977 others(3): Show |
p.Trp others(4): Show |
SLC35G6 | ENSG00000259224.3 | transcript | ENST00000412468.4 | protein_coding | 2/2 | 1048/1583 | 977/1017 | 326/338 | chr17 | TogoVar | ||
SLC6A18_chr5_1220381_1251189 | 1240642 | C | G | stop_gained | HIGH | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(178): Show |
a0001a0006a0007others(4): Show | a0001c0002a0001c0005a0001c0009others(16): Show | a0001c0002t0001a0001c0002t0002a0001c0005t0001others(22): Show | a0001c0002t0001g0004a0001c0002t0001g0018a0001c0002t0001g0019others(157): Show | 181 | 456 | 0.3969 | 0 | c.957 others(3): Show |
p.Tyr others(4): Show |
SLC6A18 | ENSG00000164363.10 | transcript | ENST00000324642.4 | protein_coding | 7/12 | 1054/2095 | 957/1887 | 319/628 | chr5 | TogoVar | ||
SLC7A13_chr8_86209063_86235381 | 86214405 | TCCGACAT others(1): Show |
T | frameshift_variant others(1): Show |
HIGH | HG00438.hp1 HG00544.hp1 HG01070.hp1 others(92): Show |
a0000 | a0000c0002a0000c0015a0000c0024 | a0000c0002t0002a0000c0015t0002a0000c0024t0002 | a0000c0002t0002g0002a0000c0002t0002g0008a0000c0002t0002g0012others(18): Show | 95 | 428 | 0.2220 | -8 | c.141 others(15): Show |
p.Ter others(5): Show |
SLC7A13 | ENSG00000164893.9 | transcript | ENST00000297524.8 | protein_coding | 4/4 | 1524/1867 | 1413/1413 | 471/470 | chr8 | TogoVar | ||
SLFN13_chr17_35430096_35453766 | 35445639 | G | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(56): Show |
a0002 | a0002c0002a0002c0014a0002c0023others(6): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0011others(17): Show | a0002c0002t0003g0003a0002c0002t0003g0022a0002c0002t0003g0060others(25): Show | 59 | 456 | 0.1294 | 0 | c.42C others(2): Show |
p.Tyr others(3): Show |
SLFN13 | ENSG00000154760.14 | transcript | ENST00000285013.11 | protein_coding | 3/6 | 247/8398 | 42/2694 | 14/897 | chr17 | TogoVar | ||
SLFNL1_chr1_41010597_41026725 | 41017902 | A | AC | frameshift_variant | HIGH | HG00544.hp2 HG00673.hp1 HG00673.hp2 others(57): Show |
a0002a0005a0007others(3): Show | a0002c0002a0002c0022a0005c0007others(6): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(11): Show | a0002c0002t0001g0007a0002c0002t0001g0022a0002c0002t0001g0029others(24): Show | 60 | 430 | 0.1395 | 1 | c.689 others(4): Show |
p.Ser others(5): Show |
SLFNL1 | ENSG00000171790.16 | transcript | ENST00000302946.13 | protein_coding | 4/6 | 917/1961 | 689/1224 | 230/407 | chr1 | TogoVar | ||
SNX27_chr1_151607050_151704080 | 151692406 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(82): Show |
a0001a0002 | a0001c0001a0001c0006a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(48): Show | a0001c0001t0001g0113a0001c0001t0001g0117a0001c0001t0001g0118others(82): Show | 85 | 366 | 0.2322 | 1 | c.124 others(7): Show |
SNX27 | ENSG00000143376.14 | transcript | ENST00000458013.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SON_chr21_33538038_33582481 | 33576378 | G | GA | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0009others(50): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(246): Show | 363 | 364 | 0.9973 | 1 | c.723 others(5): Show |
p.Ala others(6): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 12/12 | 7292/8393 | 7237/7281 | 2413/2426 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |
SON_chr21_33538038_33582481 | 33576390 | GA | G | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(360): Show |
a0001a0002a0003others(24): Show | a0001c0001a0001c0002a0001c0009others(50): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(52): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(246): Show | 363 | 364 | 0.9973 | -1 | c.724 others(5): Show |
p.Arg others(6): Show |
SON | ENSG00000159140.23 | transcript | ENST00000356577.10 | protein_coding | 12/12 | 7303/8393 | 7248/7281 | 2416/2426 | chr21 | TogoVar | ||
SP140_chr2_230220736_230318215 | 230294320 | T | G | splice_donor_variant others(1): Show |
HIGH | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 370 | 0.0027 | 0 | c.201 others(6): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 21/26 | chr2 | TogoVar | ||||||
SPATA31F1_chr9_34718053_34734488 | 34726954 | G | A | stop_gained | HIGH | NA19067.hp2 | a0014 | a0014c0039 | a0014c0039t0002 | a0014c0039t0002g0052 | 1 | 448 | 0.0022 | 0 | c.286 others(3): Show |
p.Arg others(3): Show |
SPATA31F1 | ENSG00000205108.6 | transcript | ENST00000378788.4 | protein_coding | 4/4 | 347/4248 | 286/4008 | 96/1335 | chr9 | TogoVar | ||
SPRR5_chr1_152942206_152954255 | 152948623 | CCCCCCAC others(13): Show |
C | frameshift_variant | HIGH | HG01099.hp1 NA19067.hp2 |
a0000 | a0000c0009 | a0000c0009t0002 | a0000c0009t0002g0001 | 2 | 436 | 0.0046 | -20 | c.75_ others(25): Show |
p.Pro others(4): Show |
SPRR5 | ENSG00000283227.2 | transcript | ENST00000636302.2 | protein_coding | 2/2 | 136/762 | 75/327 | 25/108 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
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 | a0001c0001t0001g0021a0001c0001t0001g0045a0001c0001t0001g0051others(85): Show | 98 | 382 | 0.2565 | 1 | c.468 others(6): Show |
SRSF3 | ENSG00000112081.17 | transcript | ENST00000373715.11 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SUN2_chr22_38729734_38760998 | 38749811 | C | CG | frameshift_variant | HIGH | HG01433.hp1 HG01928.hp1 HG03471.hp2 others(7): Show |
a0005a0009 | a0005c0006a0005c0010a0005c0011others(2): Show | a0005c0006t0001a0005c0006t0004a0005c0006t0011others(4): Show | a0005c0006t0001g0072a0005c0006t0001g0103a0005c0006t0004g0052others(7): Show | 10 | 350 | 0.0286 | 1 | c.568 others(4): Show |
p.Arg others(5): Show |
SUN2 | ENSG00000100242.16 | transcript | ENST00000689035.1 | protein_coding | 6/18 | 841/3960 | 568/2154 | 190/717 | chr22 | TogoVar | ||
TAAR6_chr6_132565322_132576359 | 132571241 | ATCCTTTG others(3): Show |
A | frameshift_variant | HIGH | NA19067.hp1 | a0016 | a0016c0021 | a0016c0021t0000 | a0016c0021t0000g0000 | 1 | 474 | 0.0021 | -10 | c.922 others(17): Show |
p.Pro others(5): Show |
TAAR6 | ENSG00000146383.7 | transcript | ENST00000275198.1 | protein_coding | 1/1 | 922/1038 | 922/1038 | 308/345 | 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 |
a0002a0005 | a0002c0002a0002c0006a0005c0013 | a0002c0002t0001a0002c0002t0002a0002c0006t0001others(1): Show | a0002c0002t0001g0001a0002c0002t0001g0002a0002c0002t0001g0003others(15): Show | 35 | 380 | 0.0921 | 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 | |
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 | ||
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 | |
TEX13C_chrX_125314871_125330214 | 125323083 | C | CA | frameshift_variant | HIGH | NA19067.hp1 | a0017 | a0017c0019 | a0017c0019t0001 | a0017c0019t0001g0006 | 1 | 303 | 0.0033 | 1 | c.296 others(5): Show |
p.Ser others(5): Show |
TEX13C | ENSG00000282815.2 | transcript | ENST00000695840.1 | protein_coding | 1/2 | 3215/4765 | 2966/2982 | 989/993 | INFO_REALIGN_3_PRIME | 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 | ||||||
TMPRSS4_chr11_118072078_118126890 | 118094815 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(127): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0092a0001c0001t0002g0190a0001c0001t0003g0009others(124): Show | 130 | 406 | 0.3202 | 0 | c.4-1 others(3): Show |
TMPRSS4 | ENSG00000137648.19 | transcript | ENST00000437212.8 | protein_coding | 1/12 | chr11 | TogoVar | ||||||
TNK1_chr17_7376089_7394742 | 7387376 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp2 HG00323.hp2 HG00438.hp2 others(53): Show |
a0001a0003a0009others(3): Show | a0001c0001a0001c0002a0001c0031others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0031t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0043a0001c0001t0001g0048others(15): Show | 56 | 452 | 0.1239 | 0 | c.139 others(6): Show |
TNK1 | ENSG00000174292.13 | transcript | ENST00000688331.1 | protein_coding | 9/12 | chr17 | TogoVar | ||||||
TRIM38_chr6_25957802_25996231 | 25969403 | C | T | stop_gained | HIGH | NA18940.hp2 NA18941.hp2 NA18948.hp1 others(11): Show |
a0002 | a0002c0003 | a0002c0003t0016a0002c0003t0029a0002c0003t0041others(5): Show | a0002c0003t0016g0009a0002c0003t0016g0033a0002c0003t0016g0055others(9): Show | 14 | 366 | 0.0383 | 0 | c.490 others(3): Show |
p.Arg others(4): Show |
TRIM38 | ENSG00000112343.11 | transcript | ENST00000357085.5 | protein_coding | 4/8 | 966/9418 | 490/1398 | 164/465 | chr6 | TogoVar | ||
TRMT2A_chr22_20106875_20122226 | 20112924 | C | CCATGGCT others(54): Show |
frameshift_variant others(1): Show |
HIGH | NA19067.hp2 | a0009 | a0009c0013 | a0009c0013t0002 | a0009c0013t0002g0059 | 1 | 442 | 0.0023 | 61 | c.157 others(70): Show |
p.Gly others(5): Show |
TRMT2A | ENSG00000099899.16 | transcript | ENST00000252136.12 | protein_coding | 11/12 | 1952/2886 | 1632/1878 | 544/625 | chr22 | TogoVar | ||
UNC93A_chr6_167286315_167321014 | 167298071 | G | C | splice_donor_variant others(1): Show |
HIGH | HG00423.hp1 HG00558.hp1 HG00597.hp1 others(26): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0005others(4): Show | a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0001g0101others(21): Show | 29 | 448 | 0.0647 | 0 | c.625 others(5): Show |
UNC93A | ENSG00000112494.10 | transcript | ENST00000230256.8 | protein_coding | 4/7 | chr6 | TogoVar | ||||||
UPF3B_chrX_119829022_119857963 | 119845217 | T | TA | frameshift_variant | HIGH | NA19067.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0079 | 1 | 282 | 0.0036 | 1 | c.449 others(8): Show |
p.Lys others(5): Show |
UPF3B | ENSG00000125351.14 | transcript | ENST00000276201.7 | protein_coding | 4/11 | 484/2343 | 449/1452 | 150/483 | chrX | TogoVar | ||
USP17L19_chr4_9248378_9259970 | 9254785 | A | T | stop_gained | HIGH | HG00140.hp2 HG01934.hp1 HG01952.hp2 others(5): Show |
a0012a0020 | a0012c0010a0012c0069a0020c0023 | a0012c0010t0000a0012c0069t0000a0020c0023t0000 | a0012c0010t0000g0000a0012c0069t0000g0000a0020c0023t0000g0000 | 8 | 206 | 0.0388 | 0 | c.140 others(4): Show |
p.Lys others(4): Show |
USP17L19 | ENSG00000248920.3 | transcript | ENST00000515566.1 | protein_coding | 1/1 | 1408/1593 | 1408/1593 | 470/530 | chr4 | 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 | ||
USP9X_chrX_41080445_41241579 | 41141427 | TG | T | frameshift_variant others(1): Show |
HIGH | NA19067.hp1 | a0006 | a0006c0007 | a0006c0007t0020 | a0006c0007t0020g0098 | 1 | 293 | 0.0034 | -1 | c.115 others(5): Show |
p.Ala others(5): Show |
USP9X | ENSG00000124486.15 | transcript | ENST00000378308.7 | protein_coding | 9/45 | 1982/12543 | 1159/7665 | 387/2554 | INFO_REALIGN_3_PRIME | chrX | 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 | ||||||
VSIG10L2_chr11_125941044_125961319 | 125948513 | G | A | stop_gained | HIGH | HG00544.hp2 HG00597.hp1 HG00639.hp2 others(53): Show |
a0004a0012 | a0004c0004a0004c0008a0004c0023others(2): Show | a0004c0004t0001a0004c0008t0001a0004c0023t0001others(2): Show | a0004c0004t0001g0004a0004c0004t0001g0009a0004c0004t0001g0048others(10): Show | 56 | 446 | 0.1256 | 0 | c.642 others(3): Show |
p.Trp others(4): Show |
VSIG10L2 | ENSG00000283703.3 | transcript | ENST00000686984.1 | protein_coding | 3/12 | 654/2799 | 642/2382 | 214/793 | chr11 | 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 | ||
WAS_chrX_48678799_48696427 | 48688723 | T | TG | frameshift_variant | HIGH | HG03688.hp1 NA18956.hp2 NA19067.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001a0003c0003t0001g0002a0003c0003t0001g0003 | 3 | 274 | 0.0110 | 1 | c.100 others(5): Show |
p.Asn others(5): Show |
WAS | ENSG00000015285.12 | transcript | ENST00000376701.5 | protein_coding | 10/12 | 1057/1829 | 1002/1509 | 334/502 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
XPNPEP2_chrX_129733979_129774536 | 129746296 | A | AG | frameshift_variant | HIGH | NA19067.hp1 | a0028 | a0028c0030 | a0028c0030t0001 | a0028c0030t0001g0178 | 1 | 310 | 0.0032 | 1 | c.361 others(4): Show |
p.Ala others(5): Show |
XPNPEP2 | ENSG00000122121.12 | transcript | ENST00000371106.4 | protein_coding | 5/21 | 597/3311 | 362/2025 | 121/674 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ZACN_chr17_76074182_76087806 | 76081716 | C | T | stop_gained | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(86): Show |
a0003a0008a0009 | a0003c0003a0003c0012a0008c0013others(1): Show | a0003c0003t0001a0003c0012t0001a0008c0013t0001others(1): Show | a0003c0003t0001g0001a0003c0003t0001g0008a0003c0003t0001g0022others(5): Show | 89 | 392 | 0.2270 | 0 | c.841 others(3): Show |
p.Gln others(4): Show |
ZACN | ENSG00000186919.13 | transcript | ENST00000334586.10 | protein_coding | 7/9 | 924/1475 | 841/1239 | 281/412 | chr17 | 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 | ||
ZNF211_chr19_57628168_57649041 | 57633347 | A | G | start_lost | HIGH | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(109): Show |
a0002a0004a0005others(2): Show | a0002c0002a0002c0013a0004c0007others(3): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(12): Show | a0002c0002t0002g0002a0002c0002t0002g0016a0002c0002t0002g0021others(29): Show | 112 | 372 | 0.3011 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
ZNF211 | ENSG00000121417.14 | transcript | ENST00000240731.5 | protein_coding | 1/4 | 180/3773 | 1/1734 | 1/577 | chr19 | TogoVar | ||
ZNF28_chr19_52792408_52826633 | 52801215 | CAT | C | frameshift_variant | HIGH | HG02129.hp1 HG03669.hp1 NA18950.hp2 others(9): Show |
a0006a0019 | a0006c0006a0019c0022 | a0006c0006t0001a0006c0006t0018a0019c0022t0001 | a0006c0006t0001g0169a0006c0006t0001g0171a0006c0006t0001g0183others(9): Show | 12 | 422 | 0.0284 | -2 | c.628 others(9): Show |
p.Met others(5): Show |
ZNF28 | ENSG00000198538.11 | transcript | ENST00000457749.7 | protein_coding | 4/4 | 750/4558 | 628/2157 | 210/718 | 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 | |
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 | ||
ZNF628_chr19_55471617_55489487 | 55482244 | G | GC | frameshift_variant | HIGH | HG00323.hp1 HG00597.hp1 HG00642.hp2 others(22): Show |
a0004a0005a0008others(5): Show | a0004c0054a0004c0055a0004c0082others(13): Show | a0004c0054t0001a0004c0055t0001a0004c0082t0001others(13): Show | a0004c0054t0001g0128a0004c0055t0001g0043a0004c0082t0001g0131others(20): Show | 25 | 422 | 0.0592 | 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 | |
ZNF80_chr3_114229631_114242578 | 114236340 | A | C | stop_gained | HIGH | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(64): Show |
a0003a0007 | a0003c0003a0007c0009 | a0003c0003t0003a0003c0003t0007a0003c0003t0014others(4): Show | a0003c0003t0003g0000a0003c0003t0007g0000a0003c0003t0014g0000others(4): Show | 67 | 426 | 0.1573 | 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 |