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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IKBKG_chrX_154542620_154570033 | 154558562 | GC | G | frameshift_variant | HIGH | NA19076.hp1 | a0005 | a0005c0006 | a0005c0006t0007 | a0005c0006t0007g0056 | 1 | 246 | 0.0041 | -1 | c.433 others(4): Show |
p.Gln others(5): Show |
IKBKG | ENSG00000269335.7 | transcript | ENST00000594239.6 | protein_coding | 4/10 | 574/1973 | 433/1260 | 145/419 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
IL13RA1_chrX_118722606_118799533 | 118727707 | C | CG | frameshift_variant | HIGH | NA19076.hp1 | a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0264 | 1 | 280 | 0.0036 | 1 | c.74d others(3): Show |
p.Ala others(4): Show |
IL13RA1 | ENSG00000131724.11 | transcript | ENST00000371666.8 | protein_coding | 1/11 | 108/3996 | 75/1284 | 25/427 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
IQSEC2_chrX_53227876_53326350 | 53234604 | A | AG | frameshift_variant | HIGH | NA18974.hp1 NA19076.hp1 |
a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0005a0002c0006t0001g0068 | 2 | 213 | 0.0094 | 1 | c.408 others(5): Show |
p.Leu others(6): Show |
IQSEC2 | ENSG00000124313.19 | transcript | ENST00000642864.1 | protein_coding | 15/15 | 4308/6037 | 4081/4467 | 1361/1488 | chrX | TogoVar | ||
ITGB1BP2_chrX_71296750_71310371 | 71303656 | T | TC | frameshift_variant | HIGH | NA19076.hp1 | a0007 | a0007c0005 | a0007c0005t0002 | a0007c0005t0002g0010 | 1 | 291 | 0.0034 | 1 | c.500 others(4): Show |
p.Cys others(5): Show |
ITGB1BP2 | ENSG00000147166.11 | transcript | ENST00000373829.8 | protein_coding | 7/11 | 558/1280 | 501/1044 | 167/347 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ITGB1BP2_chrX_71296750_71310371 | 71305043 | T | TC | frameshift_variant | HIGH | NA19076.hp1 | a0007 | a0007c0005 | a0007c0005t0002 | a0007c0005t0002g0010 | 1 | 291 | 0.0034 | 1 | c.897 others(4): Show |
p.Trp others(5): Show |
ITGB1BP2 | ENSG00000147166.11 | transcript | ENST00000373829.8 | protein_coding | 11/11 | 955/1280 | 898/1044 | 300/347 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
ITGB1BP2_chrX_71296750_71310371 | 71305081 | GA | G | frameshift_variant | HIGH | NA19076.hp1 | a0007 | a0007c0005 | a0007c0005t0002 | a0007c0005t0002g0010 | 1 | 291 | 0.0034 | -1 | c.935 others(4): Show |
p.Lys others(5): Show |
ITGB1BP2 | ENSG00000147166.11 | transcript | ENST00000373829.8 | protein_coding | 11/11 | 992/1280 | 935/1044 | 312/347 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
IVL_chr1_152903546_152916886 | 152910396 | A | AGGGGCAG others(84): Show |
frameshift_variant | HIGH | NA19076.hp1 | a0026 | a0026c0046 | a0026c0046t0002 | a0026c0046t0002g0004 | 1 | 426 | 0.0024 | 91 | c.603 others(98): Show |
p.Gln others(5): Show |
IVL | ENSG00000163207.7 | transcript | ENST00000368764.4 | protein_coding | 2/2 | 757/2152 | 694/1758 | 232/585 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
KDM5C_chrX_53187158_53230207 | 53193041 | AG | A | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0046 | 1 | 241 | 0.0042 | -1 | c.460 others(5): Show |
p.Ser others(6): Show |
KDM5C | ENSG00000126012.13 | transcript | ENST00000375401.8 | protein_coding | 26/26 | 4926/5810 | 4608/4683 | 1536/1560 | chrX | TogoVar | ||
KDM5C_chrX_53187158_53230207 | 53193119 | T | TG | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0046 | 1 | 241 | 0.0042 | 1 | c.453 others(5): Show |
p.Ile others(6): Show |
KDM5C | ENSG00000126012.13 | transcript | ENST00000375401.8 | protein_coding | 26/26 | 4848/5810 | 4530/4683 | 1510/1560 | chrX | TogoVar | ||
KDM5C_chrX_53187158_53230207 | 53193146 | T | TC | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0046 | 1 | 241 | 0.0042 | 1 | c.450 others(5): Show |
p.Thr others(6): Show |
KDM5C | ENSG00000126012.13 | transcript | ENST00000375401.8 | protein_coding | 26/26 | 4821/5810 | 4503/4683 | 1501/1560 | chrX | TogoVar | ||
KDM5C_chrX_53187158_53230207 | 53193172 | TG | T | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0046 | 1 | 241 | 0.0042 | -1 | c.447 others(5): Show |
p.Gln others(6): Show |
KDM5C | ENSG00000126012.13 | transcript | ENST00000375401.8 | protein_coding | 26/26 | 4795/5810 | 4477/4683 | 1493/1560 | chrX | TogoVar | ||
KDM5C_chrX_53187158_53230207 | 53193218 | C | CT | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0046 | 1 | 241 | 0.0042 | 1 | c.443 others(5): Show |
p.Glu others(6): Show |
KDM5C | ENSG00000126012.13 | transcript | ENST00000375401.8 | protein_coding | 26/26 | 4749/5810 | 4431/4683 | 1477/1560 | chrX | TogoVar | ||
KDM5C_chrX_53187158_53230207 | 53193516 | AG | A | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0046 | 1 | 241 | 0.0042 | -1 | c.423 others(5): Show |
p.Leu others(6): Show |
KDM5C | ENSG00000126012.13 | transcript | ENST00000375401.8 | protein_coding | 25/26 | 4555/5810 | 4237/4683 | 1413/1560 | chrX | TogoVar | ||
KDM5C_chrX_53187158_53230207 | 53215848 | G | GT | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0046 | 1 | 241 | 0.0042 | 1 | c.909 others(4): Show |
p.Pro others(5): Show |
KDM5C | ENSG00000126012.13 | transcript | ENST00000375401.8 | protein_coding | 7/26 | 1227/5810 | 909/4683 | 303/1560 | chrX | TogoVar | ||
KDM5C_chrX_53187158_53230207 | 53217187 | TG | T | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0046 | 1 | 241 | 0.0042 | -1 | c.612 others(4): Show |
p.Lys others(5): Show |
KDM5C | ENSG00000126012.13 | transcript | ENST00000375401.8 | protein_coding | 5/26 | 930/5810 | 612/4683 | 204/1560 | chrX | TogoVar | ||
KDM5C_chrX_53187158_53230207 | 53218346 | TC | T | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0004 | a0004c0004t0006 | a0004c0004t0006g0046 | 1 | 241 | 0.0042 | -1 | c.280 others(4): Show |
p.Glu others(4): Show |
KDM5C | ENSG00000126012.13 | transcript | ENST00000375401.8 | protein_coding | 3/26 | 598/5810 | 280/4683 | 94/1560 | chrX | TogoVar | ||
KISS1_chr1_204185341_204201491 | 204190483 | CT | C | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(118): Show |
a0000 | a0000c0002 | a0000c0002t0002a0000c0002t0004a0000c0002t0008others(1): Show | a0000c0002t0002g0001a0000c0002t0002g0008a0000c0002t0002g0020others(31): Show | 121 | 400 | 0.3025 | -1 | c.417 others(4): Show |
p.Ter others(5): Show |
KISS1 | ENSG00000170498.10 | transcript | ENST00000367194.5 | protein_coding | 3/3 | 571/714 | 417/417 | 139/138 | chr1 | TogoVar | ||
KLK12_chr19_51024094_51040002 | 51031874 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(248): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(97): Show | 251 | 448 | 0.5603 | 0 | c.457 others(5): Show |
KLK12 | ENSG00000186474.16 | transcript | ENST00000684732.1 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
KRBA1_chr7_149709951_149739575 | 149723729 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(279): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0009a0001c0025others(24): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(137): Show | 282 | 414 | 0.6812 | 1 | c.875 others(6): Show |
KRBA1 | ENSG00000133619.18 | transcript | ENST00000496259.6 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KRTAP1-1_chr17_41035541_41046450 | 41041247 | G | A | stop_gained | HIGH | HG00558.hp1 HG00558.hp2 HG00597.hp2 others(75): Show |
a0002 | a0002c0002a0002c0006a0002c0014 | a0002c0002t0001a0002c0006t0001a0002c0014t0001 | a0002c0002t0001g0000a0002c0006t0001g0000a0002c0014t0001g0000 | 78 | 403 | 0.1936 | 0 | c.151 others(3): Show |
p.Gln others(3): Show |
KRTAP1-1 | ENSG00000188581.9 | transcript | ENST00000306271.5 | protein_coding | 1/1 | 204/910 | 151/534 | 51/177 | chr17 | TogoVar | ||
KRTAP29-1_chr17_41296826_41307851 | 41302321 | TGTACAGA others(6): Show |
T | frameshift_variant | HIGH | HG00408.hp2 HG00544.hp2 HG00639.hp1 others(82): Show |
a0002a0004a0007 | a0002c0002a0002c0009a0004c0006others(1): Show | a0002c0002t0000a0002c0009t0000a0004c0006t0000others(1): Show | a0002c0002t0000g0000a0002c0009t0000g0000a0004c0006t0000g0000others(1): Show | 85 | 399 | 0.2130 | -13 | c.518 others(20): Show |
p.Pro others(5): Show |
KRTAP29-1 | ENSG00000212658.1 | transcript | ENST00000391353.1 | protein_coding | 1/1 | 530/1026 | 518/1026 | 173/341 | chr17 | TogoVar | ||
L1CAM_chrX_153856516_153891173 | 153872353 | A | AC | frameshift_variant others(1): Show |
HIGH | NA19076.hp1 | a0004 | a0004c0027 | a0004c0027t0018 | a0004c0027t0018g0176 | 1 | 283 | 0.0035 | 1 | c.198 others(4): Show |
p.Phe others(4): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 5/29 | 415/5138 | 198/3774 | 66/1257 | chrX | TogoVar | ||
L1CAM_chrX_153856516_153891173 | 153872641 | T | TG | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0027 | a0004c0027t0018 | a0004c0027t0018g0176 | 1 | 283 | 0.0035 | 1 | c.147 others(4): Show |
p.Thr others(4): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 4/29 | 364/5138 | 147/3774 | 49/1257 | chrX | TogoVar | ||
L1CAM_chrX_153856516_153891173 | 153873226 | AC | A | splice_donor_variant others(1): Show |
HIGH | NA19076.hp1 | a0004 | a0004c0027 | a0004c0027t0018 | a0004c0027t0018g0176 | 1 | 283 | 0.0035 | -1 | c.91+ others(5): Show |
L1CAM | ENSG00000198910.14 | transcript | ENST00000370060.7 | protein_coding | 3/28 | chrX | TogoVar | ||||||
L3MBTL1_chr20_43502697_43546895 | 43535904 | CACTAGGA others(3): Show |
C | frameshift_variant | HIGH | NA19076.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0278 | 1 | 422 | 0.0024 | -10 | c.189 others(19): Show |
p.Thr others(5): Show |
L3MBTL1 | ENSG00000185513.18 | transcript | ENST00000418998.7 | protein_coding | 17/22 | 1970/3432 | 1894/2589 | 632/862 | chr20 | TogoVar | ||
LILRA2_chr19_54568790_54595287 | 54587200 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00544.hp2 HG00558.hp2 HG00597.hp2 others(65): Show |
a0001a0014a0017others(1): Show | a0001c0001a0014c0021a0017c0023others(1): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0035others(3): Show | a0001c0001t0003g0001a0001c0001t0003g0018a0001c0001t0003g0019others(14): Show | 68 | 427 | 0.1593 | 0 | c.130 others(6): Show |
LILRA2 | ENSG00000239998.7 | transcript | ENST00000391738.8 | protein_coding | 7/7 | chr19 | TogoVar | ||||||
LILRA6_chr19_54231590_54247790 | 54240484 | G | A | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(189): Show |
a0002a0003a0004others(34): Show | a0002c0002a0002c0027a0002c0028others(40): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0007others(71): Show | a0002c0002t0003g0002a0002c0002t0003g0043a0002c0002t0003g0140others(97): Show | 192 | 450 | 0.4267 | 0 | c.104 others(4): Show |
p.Gln others(4): Show |
LILRA6 | ENSG00000244482.11 | transcript | ENST00000396365.7 | protein_coding | 6/8 | 1087/3848 | 1048/1446 | 350/481 | chr19 | TogoVar | ||
LILRB3_chr19_54211278_54228007 | 54220736 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0003a0004others(39): Show | a0001c0001a0003c0002a0004c0005others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(65): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0079others(100): Show | 312 | 455 | 0.6857 | 0 | c.105 others(4): Show |
p.Tyr others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 6/13 | 1081/2742 | 1050/1896 | 350/631 | chr19 | TogoVar | ||
LILRB3_chr19_54211278_54228007 | 54221872 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
a0001a0003a0010others(16): Show | a0001c0001a0003c0002a0010c0012others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0079others(56): Show | 196 | 455 | 0.4308 | 0 | c.614 others(3): Show |
p.Trp others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 4/13 | 645/2742 | 614/1896 | 205/631 | chr19 | TogoVar | ||
LOC102725191_chr7_12499441_12546270 | 12523234 | G | GA | frameshift_variant | HIGH | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(120): Show |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(95): Show | 123 | 422 | 0.2915 | 1 | c.274 others(4): Show |
p.Ile others(4): Show |
LOC102725191 | ENSG00000226690.9 | transcript | ENST00000636804.2 | protein_coding | 2/6 | 378/1221 | 275/771 | 92/256 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MAGEB16_chrX_35793342_35808772 | 35803010 | C | T | stop_gained | HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(185): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(22): Show | 188 | 288 | 0.6528 | 0 | c.814 others(3): Show |
p.Arg others(4): Show |
MAGEB16 | ENSG00000189023.11 | transcript | ENST00000399988.6 | protein_coding | 2/2 | 957/1719 | 814/975 | 272/324 | chrX | TogoVar | ||
MAGEB17_chrX_16162481_16176464 | 16170385 | GC | G | frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0015 | 1 | 282 | 0.0036 | -1 | c.5de others(2): Show |
p.Pro others(3): Show |
MAGEB17 | ENSG00000182798.10 | transcript | ENST00000400004.6 | protein_coding | 2/2 | 357/1434 | 5/1011 | 2/336 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEB17_chrX_16162481_16176464 | 16170457 | C | CA | frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0015 | 1 | 282 | 0.0036 | 1 | c.75_ others(6): Show |
p.Gly others(4): Show |
MAGEB17 | ENSG00000182798.10 | transcript | ENST00000400004.6 | protein_coding | 2/2 | 428/1434 | 76/1011 | 26/336 | chrX | TogoVar | ||
MAGEB17_chrX_16162481_16176464 | 16170488 | G | GA | frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0015 | 1 | 282 | 0.0036 | 1 | c.110 others(4): Show |
p.Leu others(4): Show |
MAGEB17 | ENSG00000182798.10 | transcript | ENST00000400004.6 | protein_coding | 2/2 | 463/1434 | 111/1011 | 37/336 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEB17_chrX_16162481_16176464 | 16170655 | T | TC | frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0015 | 1 | 282 | 0.0036 | 1 | c.276 others(4): Show |
p.Asn others(4): Show |
MAGEB17 | ENSG00000182798.10 | transcript | ENST00000400004.6 | protein_coding | 2/2 | 629/1434 | 277/1011 | 93/336 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEB17_chrX_16162481_16176464 | 16170694 | AG | A | frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0015 | 1 | 282 | 0.0036 | -1 | c.314 others(4): Show |
p.Gly others(5): Show |
MAGEB17 | ENSG00000182798.10 | transcript | ENST00000400004.6 | protein_coding | 2/2 | 666/1434 | 314/1011 | 105/336 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEB17_chrX_16162481_16176464 | 16170704 | CT | C | frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0015 | 1 | 282 | 0.0036 | -1 | c.324 others(4): Show |
p.Leu others(5): Show |
MAGEB17 | ENSG00000182798.10 | transcript | ENST00000400004.6 | protein_coding | 2/2 | 676/1434 | 324/1011 | 108/336 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEB17_chrX_16162481_16176464 | 16170891 | AC | A | frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0015 | 1 | 282 | 0.0036 | -1 | c.513 others(4): Show |
p.Ser others(5): Show |
MAGEB17 | ENSG00000182798.10 | transcript | ENST00000400004.6 | protein_coding | 2/2 | 865/1434 | 513/1011 | 171/336 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEB17_chrX_16162481_16176464 | 16171105 | GC | G | frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0015 | 1 | 282 | 0.0036 | -1 | c.727 others(4): Show |
p.Gln others(5): Show |
MAGEB17 | ENSG00000182798.10 | transcript | ENST00000400004.6 | protein_coding | 2/2 | 1079/1434 | 727/1011 | 243/336 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEB17_chrX_16162481_16176464 | 16171149 | TG | T | frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0015 | 1 | 282 | 0.0036 | -1 | c.769 others(4): Show |
p.Glu others(5): Show |
MAGEB17 | ENSG00000182798.10 | transcript | ENST00000400004.6 | protein_coding | 2/2 | 1121/1434 | 769/1011 | 257/336 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEB17_chrX_16162481_16176464 | 16171274 | G | GC | frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0015 | 1 | 282 | 0.0036 | 1 | c.894 others(4): Show |
p.Ser others(5): Show |
MAGEB17 | ENSG00000182798.10 | transcript | ENST00000400004.6 | protein_coding | 2/2 | 1247/1434 | 895/1011 | 299/336 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEB1_chrX_30242146_30257040 | 30251252 | A | AT | frameshift_variant | HIGH | NA19076.hp1 | a0005 | a0005c0006 | a0005c0006t0009 | a0005c0006t0009g0030 | 1 | 338 | 0.0030 | 1 | c.760 others(4): Show |
p.Tyr others(5): Show |
MAGEB1 | ENSG00000214107.9 | transcript | ENST00000397548.4 | protein_coding | 2/2 | 932/1718 | 761/1044 | 254/347 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEB1_chrX_30242146_30257040 | 30251285 | T | TC | frameshift_variant | HIGH | NA19076.hp1 | a0005 | a0005c0006 | a0005c0006t0009 | a0005c0006t0009g0030 | 1 | 338 | 0.0030 | 1 | c.797 others(4): Show |
p.Arg others(5): Show |
MAGEB1 | ENSG00000214107.9 | transcript | ENST00000397548.4 | protein_coding | 2/2 | 969/1718 | 798/1044 | 266/347 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEB1_chrX_30242146_30257040 | 30251392 | TC | T | frameshift_variant | HIGH | NA19076.hp1 | a0005 | a0005c0006 | a0005c0006t0009 | a0005c0006t0009g0030 | 1 | 338 | 0.0030 | -1 | c.902 others(4): Show |
p.Pro others(5): Show |
MAGEB1 | ENSG00000214107.9 | transcript | ENST00000397548.4 | protein_coding | 2/2 | 1073/1718 | 902/1044 | 301/347 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEB4_chrX_30237000_30249187 | 30242644 | AC | A | frameshift_variant | HIGH | NA19076.hp1 | a0005 | a0005c0011 | a0005c0011t0001 | a0005c0011t0001g0000 | 1 | 345 | 0.0029 | -1 | c.513 others(4): Show |
p.Thr others(5): Show |
MAGEB4 | ENSG00000120289.12 | transcript | ENST00000378982.4 | protein_coding | 1/1 | 649/2188 | 513/1041 | 171/346 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGED4B_chrX_52056827_52074183 | 52063041 | G | GC | frameshift_variant | HIGH | NA19076.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0037 | 1 | 216 | 0.0046 | 1 | c.173 others(5): Show |
p.Leu others(5): Show |
MAGED4B | ENSG00000187243.17 | transcript | ENST00000335504.10 | protein_coding | 11/13 | 1815/2513 | 1730/2226 | 577/741 | chrX | TogoVar | ||
MAGED4_chrX_52179888_52197268 | 52191444 | AC | A | frameshift_variant | HIGH | NA18982.hp1 NA19076.hp1 |
a0006a0008 | a0006c0018a0008c0013 | a0006c0018t0002a0008c0013t0001 | a0006c0018t0002g0016a0008c0013t0001g0051 | 2 | 220 | 0.0091 | -1 | c.180 others(5): Show |
p.Arg others(5): Show |
MAGED4 | ENSG00000154545.17 | transcript | ENST00000471932.6 | protein_coding | 12/13 | 1913/2537 | 1804/2226 | 602/741 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEE2_chrX_75777987_75790254 | 75783734 | T | TG | frameshift_variant | HIGH | NA19076.hp1 | a0007 | a0007c0005 | a0007c0005t0002 | a0007c0005t0002g0000 | 1 | 277 | 0.0036 | 1 | c.131 others(5): Show |
p.Ile others(5): Show |
MAGEE2 | ENSG00000186675.7 | transcript | ENST00000373359.4 | protein_coding | 1/1 | 1520/2268 | 1317/1572 | 439/523 | chrX | TogoVar | ||
MAGEE2_chrX_75777987_75790254 | 75784260 | CA | C | frameshift_variant | HIGH | NA19076.hp1 | a0007 | a0007c0005 | a0007c0005t0002 | a0007c0005t0002g0000 | 1 | 277 | 0.0036 | -1 | c.791 others(4): Show |
p.Met others(5): Show |
MAGEE2 | ENSG00000186675.7 | transcript | ENST00000373359.4 | protein_coding | 1/1 | 994/2268 | 791/1572 | 264/523 | chrX | TogoVar | ||
MAGEE2_chrX_75777987_75790254 | 75784270 | A | AT | frameshift_variant | HIGH | NA19076.hp1 | a0007 | a0007c0005 | a0007c0005t0002 | a0007c0005t0002g0000 | 1 | 277 | 0.0036 | 1 | c.781 others(4): Show |
p.Ile others(5): Show |
MAGEE2 | ENSG00000186675.7 | transcript | ENST00000373359.4 | protein_coding | 1/1 | 984/2268 | 781/1572 | 261/523 | chrX | TogoVar |