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 | |
DHDH_chr19_48928699_48949969 | 48939592 | T | TG | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp2 HG00438.hp1 others(129): Show |
a0002a0006a0019others(3): Show | a0002c0002a0002c0005a0002c0027others(7): Show | a0002c0002t0001a0002c0005t0001a0002c0027t0001others(7): Show | a0002c0002t0001g0002a0002c0002t0001g0007a0002c0002t0001g0019others(59): Show | 132 | 436 | 0.3028 | 1 | c.517 others(4): Show |
p.Ala others(5): Show |
DHDH | ENSG00000104808.8 | transcript | ENST00000221403.7 | protein_coding | 4/7 | 541/1064 | 518/1005 | 173/334 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
DHRS11_chr17_36586879_36605804 | 36600156 | CCA | C | splice_acceptor_variant others(2): Show |
HIGH | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(108): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0012others(15): Show | 111 | 385 | 0.2883 | -2 | c.742 others(13): Show |
DHRS11 | ENSG00000278535.5 | transcript | ENST00000618403.5 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | 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 | ||||
DNAJC28_chr21_33483055_33496716 | 33488442 | CAATTA | C | frameshift_variant | HIGH | HG00323.hp1 HG00609.hp1 HG00609.hp2 others(58): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004a0002c0002t0001g0010a0002c0002t0001g0012others(3): Show | 61 | 415 | 0.1470 | -5 | c.947 others(12): Show |
p.Leu others(5): Show |
DNAJC28 | ENSG00000177692.13 | transcript | ENST00000381947.4 | protein_coding | 2/2 | 1097/1485 | 947/1167 | 316/388 | chr21 | 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 | ||||||
EFCAB2_chr1_244964682_245092837 | 244970321 | T | TCCTCC | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(112): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0024others(112): Show | 115 | 290 | 0.3966 | 5 | c.-90 others(16): Show |
EFCAB2 | ENSG00000203666.13 | transcript | ENST00000366523.6 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
EIF3CL_chr16_28374715_28408841 | 28388130 | C | T | stop_gained | HIGH | HG00544.hp1 HG01106.hp1 HG01243.hp1 others(24): Show |
a0002a0003a0005others(2): Show | a0002c0002a0002c0007a0002c0013others(5): Show | a0002c0002t0001a0002c0007t0001a0002c0013t0001others(5): Show | a0002c0002t0001g0026a0002c0002t0001g0027a0002c0002t0001g0029others(24): Show | 27 | 172 | 0.1570 | 0 | c.174 others(4): Show |
p.Trp others(4): Show |
EIF3CL | ENSG00000205609.13 | transcript | ENST00000380876.5 | protein_coding | 15/21 | 1834/2913 | 1749/2745 | 583/914 | chr16 | TogoVar | ||
ENDOU_chr12_47704734_47730490 | 47718186 | T | A | stop_gained | HIGH | NA18965.hp2 NA18966.hp2 NA18971.hp1 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0026a0003c0004t0001g0070a0003c0004t0001g0071 | 5 | 422 | 0.0119 | 0 | c.187 others(3): Show |
p.Lys others(3): Show |
ENDOU | ENSG00000111405.9 | transcript | ENST00000422538.8 | protein_coding | 3/10 | 264/2378 | 187/1233 | 63/410 | chr12 | TogoVar | ||
ENDOV_chr17_80410167_80443086 | 80422204 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00408.hp2 HG00438.hp1 HG00609.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0018a0001c0001t0001g0172a0001c0001t0001g0257others(15): Show | 35 | 420 | 0.0833 | 0 | c.364 others(5): Show |
ENDOV | ENSG00000173818.17 | transcript | ENST00000518137.6 | protein_coding | 3/9 | chr17 | TogoVar | ||||||
FAM166A_chr9_137238599_137252751 | 137245305 | G | A | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(415): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0005others(22): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0001others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(68): Show | 418 | 418 | 1.0000 | 0 | c.522 others(5): Show |
FAM166A | ENSG00000188163.8 | transcript | ENST00000344774.6 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
FAM187B_chr19_35219800_35233739 | 35228117 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(123): Show |
a0002a0007 | a0002c0002a0002c0005a0002c0006others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0005t0001others(4): Show | a0002c0002t0001g0002a0002c0002t0002g0018a0002c0005t0001g0006others(7): Show | 126 | 450 | 0.2800 | 0 | c.564 others(3): Show |
p.Trp others(4): Show |
FAM187B | ENSG00000177558.4 | transcript | ENST00000324675.4 | protein_coding | 1/2 | 623/1194 | 564/1110 | 188/369 | chr19 | TogoVar | ||
FAM90A16_chr8_7725739_7738749 | 7732124 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00558.hp1 HG00558.hp2 HG00673.hp1 others(52): Show |
a0001a0002a0003others(26): Show | a0001c0003a0001c0006a0001c0029others(30): Show | a0001c0003t0000a0001c0006t0000a0001c0029t0000others(30): Show | a0001c0003t0000g0005a0001c0003t0000g0011a0001c0003t0000g0027others(42): Show | 55 | 70 | 0.7857 | 0 | c.432 others(5): Show |
FAM90A16 | ENSG00000285620.1 | transcript | ENST00000648174.1 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
FAM90A17_chr8_7741034_7754044 | 7747419 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00558.hp1 others(73): Show |
a0001a0002a0005others(21): Show | a0001c0001a0001c0015a0002c0005others(26): Show | a0001c0001t0000a0001c0015t0000a0002c0005t0000others(26): Show | a0001c0001t0000g0001a0001c0001t0000g0002a0001c0001t0000g0003others(50): Show | 76 | 108 | 0.7037 | 0 | c.432 others(5): Show |
FAM90A17 | ENSG00000285720.1 | transcript | ENST00000650426.1 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
FAM90A19_chr8_7748682_7761692 | 7755067 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(70): Show |
a0001a0003a0005others(25): Show | a0001c0001a0001c0033a0003c0003others(26): Show | a0001c0001t0000a0001c0033t0000a0003c0003t0000others(26): Show | a0001c0001t0000g0002a0001c0001t0000g0004a0001c0001t0000g0005others(48): Show | 73 | 116 | 0.6293 | 0 | c.432 others(5): Show |
FAM90A19 | ENSG00000285657.1 | transcript | ENST00000647903.1 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
FAM90A8_chr8_7733387_7746396 | 7739771 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00423.hp1 HG00423.hp2 HG00558.hp1 others(69): Show |
a0001a0003a0004others(28): Show | a0001c0001a0003c0003a0003c0006others(29): Show | a0001c0001t0000a0003c0003t0000a0003c0006t0000others(29): Show | a0001c0001t0000g0002a0001c0001t0000g0003a0001c0001t0000g0016others(53): Show | 72 | 108 | 0.6667 | 0 | c.432 others(5): Show |
FAM90A8 | ENSG00000285937.1 | transcript | ENST00000647775.1 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
FLG2_chr1_152343735_152365006 | 152350656 | G | T | stop_gained | HIGH | HG00323.hp2 HG00423.hp2 HG00597.hp2 others(152): Show |
a0002a0004a0006others(10): Show | a0002c0002a0002c0045a0004c0004others(13): Show | a0002c0002t0002a0002c0002t0011a0002c0002t0018others(16): Show | a0002c0002t0002g0002a0002c0002t0002g0074a0002c0002t0002g0076others(20): Show | 155 | 422 | 0.3673 | 0 | c.713 others(4): Show |
p.Ser others(5): Show |
FLG2 | ENSG00000143520.6 | transcript | ENST00000388718.5 | protein_coding | 3/3 | 7203/9124 | 7130/7176 | 2377/2391 | chr1 | 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 | |
FOXD4L1_chr2_113493665_113506150 | 113500127 | AC | A | frameshift_variant | HIGH | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(96): Show |
a0000 | a0000c0002a0000c0005a0000c0009others(3): Show | a0000c0002t0002a0000c0002t0014a0000c0002t0016others(5): Show | a0000c0002t0002g0000a0000c0002t0014g0000a0000c0002t0016g0000others(5): Show | 99 | 326 | 0.3037 | -1 | c.876 others(4): Show |
p.Gly others(5): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 1/1 | 1468/2486 | 876/1227 | 292/408 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
FOXD4L1_chr2_113493665_113506150 | 113500482 | A | G | stop_lost | HIGH | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(98): Show |
a0000 | a0000c0002a0000c0005a0000c0009others(4): Show | a0000c0002t0002a0000c0002t0014a0000c0002t0016others(6): Show | a0000c0002t0002g0000a0000c0002t0014g0000a0000c0002t0016g0000others(6): Show | 101 | 326 | 0.3098 | 0 | c.122 others(4): Show |
p.Ter others(11): Show |
FOXD4L1 | ENSG00000184492.7 | transcript | ENST00000306507.7 | protein_coding | 1/1 | 1818/2486 | 1226/1227 | 409/408 | chr2 | TogoVar | ||
FUT6_chr19_5825408_5844702 | 5831623 | G | T | stop_gained | HIGH | HG01261.hp2 HG02083.hp2 HG02523.hp2 others(14): Show |
a0006 | a0006c0005 | a0006c0005t0001a0006c0005t0003a0006c0005t0008others(4): Show | a0006c0005t0001g0015a0006c0005t0001g0087a0006c0005t0001g0115others(8): Show | 17 | 436 | 0.0390 | 0 | c.945 others(3): Show |
p.Tyr others(4): Show |
FUT6 | ENSG00000156413.15 | transcript | ENST00000318336.10 | protein_coding | 3/3 | 2111/3326 | 945/1080 | 315/359 | chr19 | TogoVar | ||
GBP3_chr1_89001680_89027866 | 89010225 | GATTCTCC others(2709): Show |
G | exon_loss_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(79): Show |
a0002a0016a0018 | a0002c0002a0016c0013a0018c0020 | a0002c0002t0003a0002c0002t0006a0002c0002t0009others(2): Show | a0002c0002t0003g0013a0002c0002t0003g0034a0002c0002t0003g0035others(67): Show | 82 | 436 | 0.1881 | -2716 | c.868 others(16): Show |
GBP3 | ENSG00000117226.12 | transcript | ENST00000370481.9 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
GMPR_chr6_16233587_16300549 | 16295116 | A | AACTC | frameshift_variant | HIGH | NA18945.hp2 NA18971.hp1 NA19075.hp1 others(2): Show |
a0000 | a0000c0005a0000c0011 | a0000c0005t0002a0000c0011t0002 | a0000c0005t0002g0153a0000c0005t0002g0158a0000c0005t0002g0182others(2): Show | 5 | 344 | 0.0145 | 4 | c.970 others(11): Show |
p.Lys others(5): Show |
GMPR | ENSG00000137198.10 | transcript | ENST00000259727.5 | protein_coding | 9/9 | 1081/1508 | 974/1038 | 325/345 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
GOLGA6L2_chr15_23434038_23452243 | 23440076 | C | CCTGGCCC others(366): Show |
frameshift_variant | HIGH | NA18971.hp1 | a0003 | a0003c0068 | a0003c0068t0001 | a0003c0068t0001g0080 | 1 | 396 | 0.0025 | 373 | c.239 others(382): 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 | ||
GUCA1C_chr3_108902792_108958879 | 108916126 | C | A | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(107): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0002c0002t0001a0002c0004t0001others(6): Show | a0001c0001t0001g0052a0001c0001t0001g0118a0001c0001t0001g0120others(106): Show | 110 | 374 | 0.2941 | 0 | c.442 others(5): Show |
GUCA1C | ENSG00000138472.11 | transcript | ENST00000261047.8 | protein_coding | 3/3 | chr3 | 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 | ||||||
HGH1_chr8_144132774_144145851 | 144138188 | G | A | stop_gained | HIGH | NA18971.hp1 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0001 | 1 | 342 | 0.0029 | 0 | c.353 others(3): Show |
p.Trp others(4): Show |
HGH1 | ENSG00000235173.7 | transcript | ENST00000347708.5 | protein_coding | 1/6 | 415/2534 | 353/1173 | 118/390 | chr8 | TogoVar | ||
HGH1_chr8_144132774_144145851 | 144138189 | G | A | stop_gained | HIGH | NA18971.hp1 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0001 | 1 | 342 | 0.0029 | 0 | c.354 others(3): Show |
p.Trp others(4): Show |
HGH1 | ENSG00000235173.7 | transcript | ENST00000347708.5 | protein_coding | 1/6 | 416/2534 | 354/1173 | 118/390 | chr8 | TogoVar | ||
HGH1_chr8_144132774_144145851 | 144138200 | A | ATTTATTT others(12): Show |
frameshift_variant | HIGH | NA18971.hp1 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0001 | 1 | 342 | 0.0029 | 19 | c.365 others(26): Show |
p.Glu others(5): Show |
HGH1 | ENSG00000235173.7 | transcript | ENST00000347708.5 | protein_coding | 1/6 | 428/2534 | 366/1173 | 122/390 | chr8 | TogoVar | ||
HGH1_chr8_144132774_144145851 | 144138290 | ACTCGGGC others(4): Show |
A | frameshift_variant | HIGH | NA18971.hp1 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0001 | 1 | 342 | 0.0029 | -11 | c.456 others(18): Show |
p.Asp others(5): Show |
HGH1 | ENSG00000235173.7 | transcript | ENST00000347708.5 | protein_coding | 1/6 | 518/2534 | 456/1173 | 152/390 | chr8 | TogoVar | ||
HLA-A_chr6_29937532_29950870 | 29943463 | T | A | stop_gained | HIGH | HG00408.hp1 HG00423.hp1 HG00438.hp2 others(85): Show |
a0001a0004a0029others(3): Show | a0001c0001a0004c0004a0029c0027others(3): Show | a0001c0001t0002a0004c0004t0004a0029c0027t0004others(3): Show | a0001c0001t0002g0002a0001c0001t0002g0026a0001c0001t0002g0027others(7): Show | 88 | 418 | 0.2105 | 0 | c.539 others(3): Show |
p.Leu others(4): Show |
HLA-A | ENSG00000206503.14 | transcript | ENST00000376809.10 | protein_coding | 3/8 | 561/1535 | 539/1098 | 180/365 | chr6 | 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 | ||
HRNR_chr1_152207076_152229193 | 152223252 | AT | A | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(379): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(208): Show | a0001c0001t0002a0001c0001t0012a0001c0002t0002others(209): Show | a0001c0001t0002g0002a0001c0001t0002g0026a0001c0001t0002g0052others(217): Show | 382 | 418 | 0.9139 | -1 | c.1de others(2): Show |
p.Met others(3): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 2/3 | 77/9629 | 1/8553 | 1/2850 | chr1 | TogoVar | ||
IPO7_chr11_9379652_9453127 | 9438045 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00673.hp1 HG01192.hp2 HG01346.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(17): Show | 20 | 314 | 0.0637 | 1 | c.249 others(7): Show |
IPO7 | ENSG00000205339.10 | transcript | ENST00000379719.8 | protein_coding | 21/24 | INFO_REALIGN_3_PRIME | chr11 | 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 | ||
KDM4A_chr1_43645149_43710518 | 43660291 | CA | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(188): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(169): Show | 191 | 370 | 0.5162 | -1 | c.315 others(6): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
KIAA0513_chr16_85022795_85099218 | 85071765 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00609.hp2 HG00621.hp2 others(108): Show |
a0001 | a0001c0001a0001c0005a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(35): Show | a0001c0001t0001g0014a0001c0001t0001g0021a0001c0001t0001g0022others(106): Show | 111 | 390 | 0.2846 | 1 | c.330 others(6): Show |
KIAA0513 | ENSG00000135709.14 | transcript | ENST00000683363.1 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr16 | 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 | |
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 | |||||
KRT24_chr17_40692991_40708752 | 40701882 | CA | C | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(201): Show |
a0001a0010a0012 | a0001c0001a0001c0013a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0013t0001others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0011others(54): Show | 204 | 424 | 0.4811 | -1 | c.666 others(4): Show |
p.Asn others(5): Show |
KRT24 | ENSG00000167916.5 | transcript | ENST00000264651.3 | protein_coding | 2/8 | 725/1883 | 666/1578 | 222/525 | chr17 | TogoVar | ||
KRT37_chr17_41415547_41429585 | 41422807 | G | A | stop_gained | HIGH | HG00408.hp2 HG00544.hp2 HG00609.hp1 others(99): Show |
a0002a0008 | a0002c0002a0002c0020a0008c0009 | a0002c0002t0002a0002c0020t0002a0008c0009t0002 | a0002c0002t0002g0002a0002c0002t0002g0013a0002c0002t0002g0036others(2): Show | 102 | 409 | 0.2494 | 0 | c.703 others(3): Show |
p.Gln others(4): Show |
KRT37 | ENSG00000108417.4 | transcript | ENST00000225550.4 | protein_coding | 3/7 | 765/1743 | 703/1350 | 235/449 | chr17 | TogoVar | ||
KRTAP10-6_chr21_44586268_44597505 | 44591702 | G | T | stop_gained | HIGH | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(113): Show |
a0002a0006a0012others(13): Show | a0002c0002a0002c0005a0002c0025others(20): Show | a0002c0002t0002a0002c0005t0002a0002c0025t0002others(22): Show | a0002c0002t0002g0000a0002c0005t0002g0000a0002c0025t0002g0000others(22): Show | 116 | 428 | 0.2710 | 0 | c.783 others(3): Show |
p.Cys others(4): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 804/1238 | 783/1098 | 261/365 | chr21 | TogoVar |