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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DEFB126_chr20_137590_150751 | 145669 | ACC | A | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(230): Show |
a0000a0002 | a0000c0002a0000c0004a0002c0003others(2): Show | a0000c0002t0001a0000c0004t0001a0002c0003t0001others(2): Show | a0000c0002t0001g0001a0000c0002t0001g0002a0000c0002t0001g0003others(16): Show | 233 | 460 | 0.5065 | -2 | c.317 others(9): Show |
p.Pro others(5): Show |
DEFB126 | ENSG00000125788.6 | transcript | ENST00000382398.4 | protein_coding | 2/2 | 356/434 | 317/336 | 106/111 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
DEPP1_chr10_44971128_44983809 | 44977450 | C | CG | frameshift_variant | HIGH | HG00621.hp2 HG00642.hp1 HG00735.hp1 others(25): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0003t0002a0002c0003t0005others(3): Show | a0002c0003t0001g0009a0002c0003t0001g0012a0002c0003t0001g0022others(6): Show | 28 | 424 | 0.0660 | 1 | c.580 others(4): Show |
p.Arg others(5): Show |
DEPP1 | ENSG00000165507.9 | transcript | ENST00000298295.4 | protein_coding | 2/2 | 797/2120 | 580/639 | 194/212 | chr10 | TogoVar | ||
DFFA_chr1_10451522_10477529 | 10472433 | A | AC | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(192): Show |
a0002 | a0002c0002a0002c0004a0002c0006others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(57): Show | a0002c0002t0001g0001a0002c0002t0001g0004a0002c0002t0001g0008others(124): Show | 195 | 438 | 0.4452 | 1 | c.25d others(3): Show |
p.Val others(3): Show |
DFFA | ENSG00000160049.12 | transcript | ENST00000377038.8 | protein_coding | 1/6 | 96/6035 | 25/996 | 9/331 | chr1 | TogoVar | ||
DGKH_chr13_42043648_42247896 | 42159244 | C | CTTTTTTT others(4): Show |
splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00408.hp2 HG00544.hp1 others(77): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0016a0001c0002t0001a0001c0002t0004others(31): Show | a0001c0001t0016g0286a0001c0002t0001g0027a0001c0002t0001g0043others(77): Show | 80 | 316 | 0.2532 | 11 | c.623 others(23): Show |
DGKH | ENSG00000102780.17 | transcript | ENST00000337343.9 | protein_coding | 5/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
DIAPH2_chrX_96679842_97609997 | 96916417 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00621.hp1 others(53): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0010a0001c0001t0001g0018a0001c0001t0001g0019others(53): Show | 56 | 147 | 0.3810 | 1 | c.733 others(6): Show |
DIAPH2 | ENSG00000147202.19 | transcript | ENST00000324765.13 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
DMAP1_chr1_44208471_44225673 | 44219457 | GTCACGCT others(17): Show |
G | frameshift_variant others(3): Show |
HIGH | NA18994.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0040 | 1 | 408 | 0.0025 | -24 | c.959 others(33): Show |
p.Val others(5): Show |
DMAP1 | ENSG00000178028.14 | transcript | ENST00000372289.7 | protein_coding | 7/10 | 1242/1742 | 959/1404 | 320/467 | chr1 | TogoVar | ||
DMBT1_chr10_122555754_122648736 | 122601633 | CTTAACCT others(12170): Show |
C | exon_loss_variant | HIGH | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(96): Show |
a0003a0004a0007others(32): Show | a0003c0005a0003c0017a0003c0086others(38): Show | a0003c0005t0001a0003c0017t0001a0003c0086t0002others(44): Show | a0003c0005t0001g0091a0003c0005t0001g0092a0003c0005t0001g0094others(90): Show | 99 | 282 | 0.3511 | -12177 | c.350 others(9): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | 3523/7984 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
DMBT1_chr10_122555754_122648736 | 122601959 | TGTCAGCC others(8111): Show |
T | exon_loss_variant | HIGH | HG00408.hp2 HG00423.hp1 HG00609.hp2 others(13): Show |
a0006a0008a0011others(2): Show | a0006c0012a0008c0009a0008c0028others(3): Show | a0006c0012t0002a0008c0009t0002a0008c0028t0003others(4): Show | a0006c0012t0002g0188a0006c0012t0002g0189a0006c0012t0002g0190others(11): Show | 16 | 282 | 0.0567 | -8118 | c.366 others(17): Show |
DMBT1 | ENSG00000187908.20 | transcript | ENST00000338354.10 | protein_coding | 30/56 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
DSP_chr6_7536671_7591714 | 7541915 | C | CA | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(109): Show |
a0001a0002a0003others(12): Show | a0001c0007a0001c0011a0001c0014others(22): Show | a0001c0007t0001a0001c0011t0001a0001c0014t0001others(24): Show | a0001c0007t0001g0046a0001c0007t0001g0049a0001c0007t0001g0162others(104): Show | 112 | 396 | 0.2828 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
DSP | ENSG00000096696.16 | transcript | ENST00000379802.8 | protein_coding | 1/24 | 247/9697 | 2/8616 | 1/2871 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
DUSP13_chr10_75089436_75104512 | 75099203 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(161): Show |
a0001 | a0001c0001a0001c0006a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(16): Show | 164 | 404 | 0.4059 | -1 | c.234 others(4): Show |
p.Ala others(4): Show |
DUSP13 | ENSG00000079393.22 | transcript | ENST00000478873.7 | protein_coding | 1/4 | 309/1320 | 234/1005 | 78/334 | chr10 | TogoVar | ||
DZANK1_chr20_18378367_18472030 | 18412855 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(210): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0007a0001c0015others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0285a0001c0001t0001g0293a0001c0001t0001g0333others(196): Show | 213 | 374 | 0.5695 | 0 | c.130 others(6): Show |
DZANK1 | ENSG00000089091.17 | transcript | ENST00000699568.1 | protein_coding | 12/20 | chr20 | TogoVar | ||||||
EBLN2_chr3_73056659_73068337 | 73062330 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00423.hp2 HG00597.hp1 others(111): Show |
a0002a0005a0006 | a0002c0002a0002c0009a0005c0006others(1): Show | a0002c0002t0002a0002c0002t0003a0002c0002t0009others(8): Show | a0002c0002t0002g0000a0002c0002t0003g0000a0002c0002t0009g0000others(8): Show | 114 | 428 | 0.2664 | 1 | c.250 others(4): Show |
p.Arg others(4): Show |
EBLN2 | ENSG00000255423.1 | transcript | ENST00000533473.1 | protein_coding | 1/1 | 674/1679 | 251/819 | 84/272 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
EGF_chr4_109907883_110018766 | 110011233 | G | GC | frameshift_variant | HIGH | HG00423.hp1 HG00609.hp2 HG00621.hp1 others(44): Show |
a0003a0013a0021 | a0003c0003a0013c0015a0021c0031 | a0003c0003t0005a0003c0003t0008a0003c0003t0018others(4): Show | a0003c0003t0005g0002a0003c0003t0005g0003a0003c0003t0005g0014others(43): Show | 47 | 388 | 0.1211 | 1 | c.340 others(5): Show |
p.Gln others(6): Show |
EGF | ENSG00000138798.13 | transcript | ENST00000265171.10 | protein_coding | 24/24 | 3860/6388 | 3407/3624 | 1136/1207 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |
FAM86B1_chr8_12177106_12199082 | 12189807 | C | T | splice_donor_variant others(1): Show |
HIGH | HG00323.hp2 HG00423.hp1 HG00558.hp2 others(52): Show |
a0001a0002a0007 | a0001c0001a0001c0005a0001c0015others(4): Show | a0001c0001t0002a0001c0005t0002a0001c0005t0013others(7): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0006others(39): Show | 55 | 176 | 0.3125 | 0 | c.240 others(5): Show |
FAM86B1 | ENSG00000186523.15 | transcript | ENST00000448228.7 | protein_coding | 3/6 | chr8 | TogoVar | ||||||
FAM90A10_chr8_7763977_7776988 | 7770362 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp2 HG00438.hp1 others(41): Show |
a0003a0005a0007others(16): Show | a0003c0003a0005c0005a0007c0008others(18): Show | a0003c0003t0000a0005c0005t0000a0007c0008t0000others(18): Show | a0003c0003t0000g0001a0003c0003t0000g0028a0005c0005t0000g0004others(19): Show | 44 | 127 | 0.3465 | 0 | c.432 others(5): Show |
FAM90A10 | ENSG00000285950.1 | transcript | ENST00000533716.2 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
FBRSL1_chr12_132485151_132590188 | 132490633 | GGAGGCCG others(21): Show |
G | frameshift_variant | HIGH | NA18994.hp2 | a0034 | a0034c0088 | a0034c0088t0028 | a0034c0088t0028g0341 | 1 | 348 | 0.0029 | -28 | c.65_ others(33): Show |
p.Glu others(4): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 1/19 | 485/4839 | 65/3009 | 22/1002 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |
FEZF2_chr3_62364681_62378550 | 62372516 | G | GC | frameshift_variant | HIGH | HG00597.hp1 HG00642.hp1 HG01261.hp1 others(22): Show |
a0002 | a0002c0002a0002c0005 | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(1): Show | a0002c0002t0001g0004a0002c0002t0001g0010a0002c0002t0002g0005others(3): Show | 25 | 420 | 0.0595 | 1 | c.352 others(4): Show |
p.Ala others(5): Show |
FEZF2 | ENSG00000153266.13 | transcript | ENST00000283268.8 | protein_coding | 2/5 | 682/2112 | 352/1380 | 118/459 | chr3 | TogoVar | ||
FIG4_chr6_109686296_109830426 | 109732621 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(276): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0001others(20): Show | a0001c0001t0002g0015a0001c0001t0002g0017a0001c0001t0002g0122others(274): Show | 279 | 370 | 0.7541 | 1 | c.447 others(6): Show |
FIG4 | ENSG00000112367.12 | transcript | ENST00000230124.8 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
FMO2_chr1_171180300_171217686 | 171208951 | C | T | stop_gained | HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(346): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0015a0002c0002others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(195): Show | 349 | 366 | 0.9536 | 0 | c.141 others(4): Show |
p.Gln others(4): Show |
FMO2 | ENSG00000094963.14 | transcript | ENST00000209929.10 | protein_coding | 9/9 | 1480/5215 | 1414/1608 | 472/535 | chr1 | TogoVar | ||
FMO2_chr1_171180300_171217686 | 171209118 | C | CT | frameshift_variant | HIGH | HG00140.hp2 HG00544.hp2 HG00741.hp2 others(78): Show |
a0002a0004 | a0002c0002a0002c0019a0004c0009 | a0002c0002t0004a0002c0002t0005a0002c0002t0025others(2): Show | a0002c0002t0004g0004a0002c0002t0004g0008a0002c0002t0004g0009others(40): Show | 81 | 366 | 0.2213 | 1 | c.158 others(5): Show |
p.Cys others(5): Show |
FMO2 | ENSG00000094963.14 | transcript | ENST00000209929.10 | protein_coding | 9/9 | 1655/5215 | 1589/1608 | 530/535 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
FOLR3_chr11_72130725_72144892 | 72139110 | CTA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(333): Show |
a0001a0003a0005 | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(24): Show | 336 | 384 | 0.8750 | -2 | c.320 others(9): Show |
p.Tyr others(5): Show |
FOLR3 | ENSG00000110203.10 | transcript | ENST00000611028.3 | protein_coding | 3/5 | 370/849 | 320/738 | 107/245 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
FOXD4L3_chr9_68297867_68310084 | 68303273 | A | T | stop_gained | HIGH | HG00423.hp1 HG00544.hp2 HG00621.hp1 others(81): Show |
a0001a0007 | a0001c0002a0001c0003a0001c0014others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(3): Show | a0001c0002t0001g0000a0001c0002t0003g0000a0001c0003t0001g0000others(3): Show | 84 | 175 | 0.4800 | 0 | c.322 others(3): Show |
p.Lys others(4): Show |
FOXD4L3 | ENSG00000187559.6 | transcript | ENST00000342833.4 | protein_coding | 1/1 | 407/2218 | 322/1254 | 108/417 | chr9 | TogoVar | ||
FOXD4L5_chr9_65277101_65290209 | 65283162 | AG | A | frameshift_variant | HIGH | HG00323.hp1 HG00323.hp2 HG00597.hp1 others(52): Show |
a0000 | a0000c0001a0000c0007a0000c0008others(6): Show | a0000c0001t0001a0000c0001t0004a0000c0001t0005others(12): Show | a0000c0001t0001g0000a0000c0001t0004g0000a0000c0001t0005g0000others(12): Show | 55 | 81 | 0.6790 | -1 | c.121 others(5): Show |
p.Trp others(5): Show |
FOXD4L5 | ENSG00000204779.2 | transcript | ENST00000377420.1 | protein_coding | 1/1 | 2047/3109 | 1215/1251 | 405/416 | chr9 | TogoVar | ||
FOXD4_chr9_111231_123417 | 116800 | C | G | stop_lost | HIGH | HG00423.hp1 HG00544.hp1 HG00639.hp1 others(105): Show |
a0000 | a0000c0002a0000c0006a0000c0016others(5): Show | a0000c0002t0001a0000c0002t0002a0000c0002t0009others(9): Show | a0000c0002t0001g0000a0000c0002t0002g0000a0000c0002t0009g0000others(9): Show | 108 | 452 | 0.2389 | 0 | c.132 others(4): Show |
p.Ter others(11): Show |
FOXD4 | ENSG00000170122.6 | transcript | ENST00000382500.4 | protein_coding | 1/1 | 1618/2187 | 1320/1320 | 440/439 | chr9 | TogoVar | ||
GATAD2A_chr19_19400675_19513932 | 19495865 | C | CCACTCGT others(10): Show |
frameshift_variant others(1): Show |
HIGH | NA18994.hp2 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0225 | 1 | 298 | 0.0034 | 17 | c.739 others(24): Show |
p.Gln others(5): Show |
GATAD2A | ENSG00000167491.18 | transcript | ENST00000683918.1 | protein_coding | 6/12 | 1107/5714 | 756/1905 | 252/634 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
GLOD5_chrX_48756747_48778648 | 48771010 | C | CA | frameshift_variant | HIGH | NA18994.hp1 | a0006 | a0006c0004 | a0006c0004t0001 | a0006c0004t0001g0122 | 1 | 269 | 0.0037 | 1 | c.285 others(8): Show |
p.Pro others(4): Show |
GLOD5 | ENSG00000171433.12 | transcript | ENST00000303227.11 | protein_coding | 3/4 | 330/740 | 286/483 | 96/160 | chrX | TogoVar | ||
GNRH2_chr20_3038622_3050747 | 3045699 | A | AGCCCC | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(98): Show |
a0000 | a0000c0002 | a0000c0002t0001a0000c0002t0002 | a0000c0002t0001g0002a0000c0002t0001g0005a0000c0002t0002g0002others(1): Show | 101 | 446 | 0.2265 | 5 | c.319 others(12): Show |
p.Ser others(5): Show |
GNRH2 | ENSG00000125787.11 | transcript | ENST00000359100.6 | protein_coding | 4/4 | 375/404 | 324/342 | 108/113 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
GOLGA6L10_chr15_82334993_82354475 | 82345107 | A | ATGTAGCC others(33): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(57): Show |
a0003a0005a0043 | a0003c0003a0003c0061a0005c0005others(1): Show | a0003c0003t0002a0003c0003t0015a0003c0003t0019others(7): Show | a0003c0003t0002g0001a0003c0003t0002g0018a0003c0003t0002g0041others(23): Show | 60 | 301 | 0.1993 | 40 | c.752 others(47): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 852/4452 | 752/1569 | 251/522 | chr15 | TogoVar | ||
GOLGA6L10_chr15_82334993_82354475 | 82345110 | C | CGT | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(63): Show |
a0003a0005a0016others(4): Show | a0003c0003a0003c0061a0005c0005others(5): Show | a0003c0003t0002a0003c0003t0015a0003c0003t0019others(11): Show | a0003c0003t0002g0001a0003c0003t0002g0018a0003c0003t0002g0041others(27): Show | 66 | 301 | 0.2193 | 2 | c.749 others(9): Show |
p.Cys others(5): Show |
GOLGA6L10 | ENSG00000278662.6 | transcript | ENST00000610657.2 | protein_coding | 6/9 | 849/4452 | 749/1569 | 250/522 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(430): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(213): Show |
a0001a0003a0004others(13): Show | a0001c0001a0001c0018a0001c0029others(20): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0019others(50): Show | 216 | 396 | 0.5455 | 437 | c.239 others(446): Show |
p.Gly others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2460/3499 | 2398/2730 | 800/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440318 | T | TCCCGCAT others(208): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(284): Show |
a0000a0001a0003others(22): Show | a0000c0051a0001c0001a0001c0003others(52): Show | a0000c0051t0001a0001c0001t0001a0001c0001t0003others(65): Show | a0000c0051t0001g0067a0001c0001t0001g0001a0001c0001t0001g0002others(92): Show | 287 | 396 | 0.7248 | 215 | c.215 others(224): Show |
p.Ser others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2218/3499 | 2156/2730 | 719/909 | chr15 | TogoVar | ||
GOLGA6L2_chr15_23434038_23452243 | 23440394 | CT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(388): Show |
a0000a0001a0002others(27): Show | a0000c0002a0000c0004a0000c0010others(74): Show | a0000c0002t0002a0000c0002t0005a0000c0002t0011others(95): Show | a0000c0002t0002g0003a0000c0002t0002g0005a0000c0002t0002g0040others(132): Show | 391 | 396 | 0.9874 | -1 | c.208 others(5): Show |
p.Arg others(5): Show |
GOLGA6L2 | ENSG00000174450.13 | transcript | ENST00000567107.6 | protein_coding | 8/8 | 2142/3499 | 2080/2730 | 694/909 | chr15 | TogoVar | ||
GP6_chr19_55008705_55043264 | 55014735 | G | GCAGA | frameshift_variant | HIGH | HG00423.hp2 HG00438.hp2 HG00621.hp1 others(55): Show |
a0003a0019 | a0003c0003a0003c0016a0003c0019others(1): Show | a0003c0003t0003a0003c0016t0003a0003c0019t0003others(1): Show | a0003c0003t0003g0003a0003c0003t0003g0004a0003c0003t0003g0019others(53): Show | 58 | 441 | 0.1315 | 4 | c.120 others(13): Show |
p.Pro others(5): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 8/8 | 1237/2268 | 1209/1863 | 403/620 | chr19 | TogoVar | ||
GPR33_chr14_31477875_31493039 | 31483548 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(423): Show |
a0001a0003a0004 | a0001c0001a0001c0003a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(82): Show | 426 | 448 | 0.9509 | 0 | c.418 others(3): Show |
p.Arg others(4): Show |
GPR33 | ENSG00000214943.5 | transcript | ENST00000399285.5 | protein_coding | 2/2 | 567/1240 | 418/1002 | 140/333 | chr14 | TogoVar | ||
GSDMB_chr17_39899595_39923635 | 39908216 | T | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(122): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004a0002c0002t0005 | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0014others(47): Show | 125 | 400 | 0.3125 | 0 | c.662 others(5): Show |
GSDMB | ENSG00000073605.19 | transcript | ENST00000418519.6 | protein_coding | 5/10 | chr17 | TogoVar | ||||||
HEATR4_chr14_73473484_73563947 | 73529735 | GTGTGCTA others(27720): Show |
G | splice_acceptor_variant others(5): Show |
HIGH | HG00423.hp1 HG00597.hp2 HG00609.hp2 others(93): Show |
a0001a0009a0016 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0002a0001c0002t0008others(5): Show | a0001c0001t0002g0163a0001c0001t0002g0194a0001c0001t0002g0205others(92): Show | 96 | 368 | 0.2609 | -27727 | c.-15 others(17): Show |
HEATR4 | ENSG00000187105.9 | transcript | ENST00000553558.6 | protein_coding | 2/18 | chr14 | TogoVar | ||||||
HECTD4_chr12_112155195_112387431 | 112185241 | G | GC | frameshift_variant | HIGH | HG01175.hp1 HG01433.hp1 HG01934.hp1 others(19): Show |
a0002a0008 | a0002c0004a0002c0005a0002c0006others(2): Show | a0002c0004t0001a0002c0004t0003a0002c0004t0004others(6): Show | a0002c0004t0001g0155a0002c0004t0003g0008a0002c0004t0003g0015others(19): Show | 22 | 270 | 0.0815 | 1 | c.972 others(5): Show |
p.Ala others(6): Show |
HECTD4 | ENSG00000173064.14 | transcript | ENST00000682272.1 | protein_coding | 61/76 | 10027/15752 | 9724/13257 | 3242/4418 | chr12 | TogoVar | ||
HLA-DQB1_chr6_32654467_32671657 | 32664861 | C | A | stop_gained | HIGH | HG00140.hp1 HG00408.hp1 HG00438.hp1 others(99): Show |
a0005a0009a0010others(2): Show | a0005c0006a0005c0019a0009c0010others(3): Show | a0005c0006t0004a0005c0019t0004a0009c0010t0001others(6): Show | a0005c0006t0004g0005a0005c0006t0004g0016a0005c0006t0004g0022others(15): Show | 102 | 402 | 0.2537 | 0 | c.316 others(3): Show |
p.Glu others(4): Show |
HLA-DQB1 | ENSG00000179344.17 | transcript | ENST00000434651.7 | protein_coding | 2/5 | 366/1605 | 316/786 | 106/261 | chr6 | TogoVar | ||
HLA-DRB1_chr6_32573775_32594848 | 32584364 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(128): Show |
a0002a0003a0005others(20): Show | a0002c0003a0003c0002a0005c0008others(21): Show | a0002c0003t0002a0003c0002t0005a0005c0008t0006others(22): Show | a0002c0003t0002g0008a0002c0003t0002g0020a0002c0003t0002g0021others(76): Show | 131 | 208 | 0.6298 | 0 | c.115 others(3): Show |
p.Gln others(3): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/6 | 221/1223 | 115/801 | 39/266 | chr6 | TogoVar | ||
HLA-DRB1_chr6_32573775_32594848 | 32584366 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(133): Show |
a0002a0003a0005others(21): Show | a0002c0003a0003c0002a0005c0008others(22): Show | a0002c0003t0002a0003c0002t0005a0005c0008t0006others(23): Show | a0002c0003t0002g0008a0002c0003t0002g0020a0002c0003t0002g0021others(77): Show | 136 | 208 | 0.6539 | 0 | c.113 others(3): Show |
p.Trp others(3): Show |
HLA-DRB1 | ENSG00000196126.12 | transcript | ENST00000360004.6 | protein_coding | 2/6 | 219/1223 | 113/801 | 38/266 | chr6 | TogoVar | ||
HSFX2_chrX_149587512_149600314 | 149593083 | C | CG | frameshift_variant | HIGH | NA18994.hp1 | a0014 | a0014c0014 | a0014c0014t0006 | a0014c0014t0006g0016 | 1 | 279 | 0.0036 | 1 | c.780 others(4): Show |
p.Gly others(5): Show |
HSFX2 | ENSG00000268738.3 | transcript | ENST00000598963.3 | protein_coding | 2/2 | 1394/1966 | 780/1272 | 260/423 | chrX | TogoVar | ||
ICAM5_chr19_10284952_10301778 | 10293783 | C | CG | frameshift_variant | HIGH | HG00642.hp1 HG00642.hp2 HG00673.hp1 others(32): Show |
a0003a0004 | a0003c0005a0003c0008a0003c0012others(4): Show | a0003c0005t0001a0003c0008t0001a0003c0012t0001others(4): Show | a0003c0005t0001g0001a0003c0005t0001g0003a0003c0005t0001g0014others(13): Show | 35 | 432 | 0.0810 | 1 | c.155 others(5): Show |
p.Val others(5): Show |
ICAM5 | ENSG00000105376.5 | transcript | ENST00000221980.5 | protein_coding | 7/11 | 1648/3029 | 1556/2775 | 519/924 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
IFIH1_chr2_162262074_162323684 | 162268086 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18994.hp1 NA19074.hp1 NA19080.hp2 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0047a0003c0002t0001g0116a0003c0002t0001g0168 | 3 | 220 | 0.0136 | 0 | c.280 others(6): Show |
IFIH1 | ENSG00000115267.10 | transcript | ENST00000649979.2 | protein_coding | 14/15 | chr2 | TogoVar | ||||||
IFNA10_chr9_21201181_21212143 | 21207038 | A | T | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00544.hp2 others(191): Show |
a0002 | a0002c0002a0002c0003a0002c0004others(9): Show | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(13): Show | a0002c0002t0002g0000a0002c0002t0012g0000a0002c0002t0013g0000others(13): Show | 194 | 457 | 0.4245 | 0 | c.60T others(2): Show |
p.Cys others(3): Show |
IFNA10 | ENSG00000186803.3 | transcript | ENST00000357374.2 | protein_coding | 1/1 | 106/963 | 60/570 | 20/189 | chr9 | TogoVar | ||
IGFL3_chr19_46115067_46129688 | 46119477 | ACTGGAGC others(5571): Show |
A | transcript_ablation | HIGH | HG00280.hp1 HG00544.hp1 HG01074.hp1 others(29): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 32 | 432 | 0.0741 | -5578 | c.-40 others(9): Show |
p.0? | IGFL3 | ENSG00000188624.3 | transcript | ENST00000341415.3 | protein_coding | 2/4 | chr19 | TogoVar | |||||
IQCA1L_chr7_151185873_151210496 | 151195597 | TC | T | frameshift_variant | HIGH | HG00408.hp2 HG00621.hp1 HG00639.hp2 others(129): Show |
a0002a0005a0008others(8): Show | a0002c0003a0002c0012a0002c0015others(26): Show | a0002c0003t0001a0002c0012t0001a0002c0015t0001others(26): Show | a0002c0003t0001g0007a0002c0003t0001g0023a0002c0003t0001g0026others(80): Show | 132 | 448 | 0.2946 | -1 | c.137 others(5): Show |
p.Glu others(5): Show |
IQCA1L | ENSG00000278685.4 | transcript | ENST00000615129.4 | protein_coding | 11/19 | 1417/2606 | 1375/2457 | 459/818 | chr7 | TogoVar | ||
JSRP1_chr19_2247252_2261417 | 2255312 | C | G | start_lost | HIGH | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(111): Show |
a0003a0004a0008others(1): Show | a0003c0003a0003c0010a0003c0011others(4): Show | a0003c0003t0001a0003c0010t0001a0003c0011t0001others(4): Show | a0003c0003t0001g0006a0003c0003t0001g0007a0003c0003t0001g0011others(23): Show | 114 | 436 | 0.2615 | 0 | c.3G> others(1): Show |
p.Met others(2): Show |
JSRP1 | ENSG00000167476.10 | transcript | ENST00000300961.10 | protein_coding | 2/7 | 68/1138 | 3/996 | 1/331 | chr19 | TogoVar | ||
KCTD1_chr18_26449910_26553553 | 26547048 | T | TG | frameshift_variant | HIGH | HG00438.hp2 HG00621.hp2 HG00673.hp2 others(32): Show |
a0002 | a0002c0003a0002c0006a0002c0014others(1): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(4): Show | a0002c0003t0001g0300a0002c0003t0001g0301a0002c0003t0001g0302others(32): Show | 35 | 338 | 0.1036 | 1 | c.148 others(5): Show |
p.Thr others(5): Show |
KCTD1 | ENSG00000134504.14 | transcript | ENST00000580059.7 | protein_coding | 1/5 | 1505/3448 | 1488/2598 | 496/865 | chr18 | TogoVar | ||
KEAP1_chr19_10481125_10508356 | 10491624 | A | T | stop_gained | HIGH | NA18994.hp2 | a0003 | a0003c0010 | a0003c0010t0006 | a0003c0010t0006g0109 | 1 | 392 | 0.0026 | 0 | c.127 others(4): Show |
p.Tyr others(4): Show |
KEAP1 | ENSG00000079999.14 | transcript | ENST00000171111.10 | protein_coding | 3/6 | 1441/2565 | 1278/1875 | 426/624 | chr19 | TogoVar | ||
KIF25_chr6_167992671_168050091 | 168029510 | C | CTGACATG others(69): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(323): Show | 335 | 375 | 0.8933 | 76 | c.7_8 others(80): Show |
p.Lys others(4): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 6/13 | 1881/3048 | 83/1155 | 28/384 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |