view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IRF2BP1_chr19_45878608_45891141 | 45884308 | A | AC | frameshift_variant | HIGH | HG00735.hp2 HG01099.hp1 HG01099.hp2 others(11): Show |
a0003a0005 | a0003c0007a0003c0008a0003c0016others(1): Show | a0003c0007t0001a0003c0007t0002a0003c0008t0001others(2): Show | a0003c0007t0001g0000 a0003c0007t0002g0000 a0003c0008t0001g0000 others(2): Show |
14 | 413 | 0.0339 | 1 | c.146 others(5): Show |
p.Gly others(5): Show |
IRF2BP1 | ENSG00000170604.5 | transcript | ENST00000302165.5 | protein_coding | 1/1 | 1833/2534 | 1466/1755 | 489/584 | chr19 | TogoVar | |||
KLK12_chr19_51024094_51040002 | 51031874 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(247): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(93): Show |
250 | 446 | 0.5605 | 0 | c.457 others(5): Show |
KLK12 | ENSG00000186474.16 | transcript | ENST00000684732.1 | protein_coding | 4/5 | chr19 | TogoVar | |||||||
KLRC2_chr12_10425599_10441010 | 10429008 | GTGATGCC others(11995): Show |
G | transcript_ablation | HIGH | HG00280.hp2 HG00423.hp1 HG00544.hp1 others(60): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 63 | 219 | 0.2877 | -12002 | c.-50 others(11): Show |
p.0? | KLRC2 | ENSG00000205809.11 | transcript | ENST00000381902.7 | protein_coding | 3/6 | chr12 | TogoVar | ||||||
KRBA1_chr7_149709951_149739575 | 149723729 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(278): Show |
a0001a0002a0003others(16): Show | a0001c0001a0001c0009a0001c0025others(23): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(29): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(132): Show |
281 | 411 | 0.6837 | 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(200): Show |
a0001a0009a0011 | a0001c0001a0001c0013a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0013t0001others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0012 others(44): Show |
203 | 422 | 0.4810 | -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 | a0002c0002t0002g0002 a0002c0002t0002g0013 a0002c0002t0002g0036 others(2): Show |
102 | 408 | 0.2500 | 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 | |||
KRTAP13-2_chr21_30366390_30377271 | 30371809 | A | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show |
a0002a0006a0010 | a0002c0002a0002c0008a0006c0009others(1): Show | a0002c0002t0001a0002c0008t0001a0006c0009t0001others(1): Show | a0002c0002t0001g0000 a0002c0008t0001g0000 a0006c0009t0001g0000 others(1): Show |
121 | 460 | 0.2630 | 0 | c.405 others(3): Show |
p.Cys others(4): Show |
KRTAP13-2 | ENSG00000182816.9 | transcript | ENST00000399889.4 | protein_coding | 1/1 | 463/882 | 405/528 | 135/175 | chr21 | TogoVar | |||
KRTAP29-1_chr17_41296826_41307851 | 41302321 | TGTACAGA others(6): Show |
T | frameshift_variant | HIGH | HG00408.hp2 HG00544.hp2 HG00639.hp1 others(82): Show |
a0002a0004a0006 | a0002c0002a0002c0009a0004c0006others(1): Show | a0002c0002t0001a0002c0009t0001a0004c0006t0001others(1): Show | a0002c0002t0001g0000 a0002c0009t0001g0000 a0004c0006t0001g0000 others(1): Show |
85 | 398 | 0.2136 | -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 | |||
KRTAP4-12_chr17_41118091_41129182 | 41123867 | AGCAGCTG others(112): Show |
A | frameshift_variant | HIGH | NA18997.hp1 | a0003 | a0003c0011 | a0003c0011t0002 | a0003c0011t0002g0000 | 1 | 422 | 0.0024 | -119 | c.137 others(7): Show |
p.Cys others(4): Show |
KRTAP4-12 | ENSG00000213416.4 | transcript | ENST00000394014.2 | protein_coding | 1/1 | 315/1092 | 137/606 | 46/201 | chr17 | TogoVar | |||
KRTAP4-8_chr17_41091981_41103142 | 41098083 | A | AT | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(232): Show |
a0001a0003a0005others(5): Show | a0001c0001a0003c0003a0003c0010others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(11): Show | a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0011g0000 others(11): Show |
235 | 414 | 0.5676 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
KRTAP4-8 | ENSG00000204880.9 | transcript | ENST00000333822.5 | protein_coding | 1/1 | 59/1162 | 1/558 | 1/185 | chr17 | TogoVar | |||
KRTAP9-1_chr17_41184887_41195639 | 41189887 | A | G | start_lost | HIGH | HG00280.hp1 HG00642.hp1 HG00735.hp1 others(40): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 43 | 458 | 0.0939 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
KRTAP9-1 | ENSG00000240542.6 | transcript | ENST00000398470.1 | protein_coding | 1/1 | 1/753 | 1/753 | 1/250 | chr17 | TogoVar | |||
LILRA6_chr19_54231590_54247790 | 54240484 | G | A | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(188): Show |
a0002a0003a0004others(33): Show | a0002c0002a0002c0027a0002c0028others(39): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0007others(70): Show | a0002c0002t0003g0002 a0002c0002t0003g0043 a0002c0002t0003g0141 others(95): Show |
191 | 448 | 0.4263 | 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 |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0019 others(25): Show |
312 | 454 | 0.6872 | 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 | |||
LTN1_chr21_28923144_28997877 | 28970534 | AAAATTTA others(11): Show |
A | frameshift_variant others(3): Show |
HIGH | NA18997.hp1 | a0017 | a0017c0016 | a0017c0016t0001 | a0017c0016t0001g0106 | 1 | 402 | 0.0025 | -18 | c.117 others(30): Show |
p.Leu others(5): Show |
LTN1 | ENSG00000198862.14 | transcript | ENST00000361371.10 | protein_coding | 8/30 | 1175/5301 | 392/1766 | chr21 | TogoVar | ||||
MGAM_chr7_141990879_142111747 | 142065551 | AGAGCCTG others(29025): Show |
A | exon_loss_variant | HIGH | HG00423.hp1 HG00735.hp2 HG00738.hp2 others(32): Show |
a0002a0008 | a0002c0004a0002c0008a0002c0016others(3): Show | a0002c0004t0001a0002c0008t0001a0002c0016t0001others(3): Show | a0002c0004t0001g0053 a0002c0004t0001g0120 a0002c0004t0001g0123 others(32): Show |
35 | 314 | 0.1115 | -29032 | c.464 others(9): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 40/71 | 4695/9172 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MICA_chr6_31398595_31420315 | 31412383 | TG | T | frameshift_variant | HIGH | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(100): Show |
a0001a0005a0008others(4): Show | a0001c0002a0005c0006a0005c0022others(5): Show | a0001c0002t0001a0005c0006t0001a0005c0022t0001others(5): Show | a0001c0002t0001g0002 a0001c0002t0001g0031 a0001c0002t0001g0032 others(27): Show |
103 | 438 | 0.2352 | -1 | c.953 others(4): Show |
p.Gly others(5): Show |
MICA | ENSG00000204520.14 | transcript | ENST00000449934.7 | protein_coding | 5/6 | 991/1370 | 953/999 | 318/332 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
MKS1_chr17_58200441_58224255 | 58214740 | C | T | splice_donor_variant others(1): Show |
HIGH | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 | 1 | 324 | 0.0031 | 0 | c.515 others(5): Show |
MKS1 | ENSG00000011143.19 | transcript | ENST00000393119.7 | protein_coding | 5/17 | chr17 | TogoVar | |||||||
MRPS34_chr16_1766895_1778134 | 1772796 | C | CACCT | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(166): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0004g0012 others(6): Show |
169 | 434 | 0.3894 | 4 | c.320 others(13): Show |
MRPS34 | ENSG00000074071.15 | transcript | ENST00000397375.7 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
MS4A4E_chr11_60195270_60248137 | 60201743 | C | CG | frameshift_variant | HIGH | HG00738.hp1 HG02055.hp1 HG03927.hp2 others(4): Show |
a0006a0008a0014 | a0006c0009a0006c0019a0008c0016others(2): Show | a0006c0009t0002a0006c0019t0004a0008c0016t0003others(2): Show | a0006c0009t0002g0206 a0006c0009t0002g0229 a0006c0009t0002g0234 others(4): Show |
7 | 407 | 0.0172 | 1 | c.795 others(4): Show |
p.Val others(5): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 9/9 | 991/2465 | 795/996 | 265/331 | chr11 | TogoVar | |||
MTCH1_chr6_36963141_36991196 | 36986143 | AG | A | frameshift_variant | HIGH | HG00597.hp1 HG04115.hp1 NA18747.hp2 others(13): Show |
a0002 | a0002c0004a0002c0008 | a0002c0004t0001a0002c0008t0001 | a0002c0004t0001g0007 a0002c0004t0001g0157 a0002c0004t0001g0158 others(1): Show |
16 | 412 | 0.0388 | -1 | c.30d others(3): Show |
p.Trp others(4): Show |
MTCH1 | ENSG00000137409.21 | transcript | ENST00000373627.10 | protein_coding | 1/12 | 53/1955 | 30/1170 | 10/389 | chr6 | TogoVar | |||
NPIPA5_chr16_15358628_15383294 | 15363681 | CGCTGAGG others(64): Show |
C | frameshift_variant | HIGH | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(80): Show |
a0002a0010 | a0002c0002a0010c0019 | a0002c0002t0001a0010c0019t0001 | a0002c0002t0001g0001 a0002c0002t0001g0020 a0002c0002t0001g0021 others(39): Show |
83 | 430 | 0.1930 | -71 | c.960 others(79): Show |
p.Pro others(5): Show |
NPIPA5 | ENSG00000183793.14 | transcript | ENST00000360151.9 | protein_coding | 8/8 | 1030/1084 | 960/1053 | 320/350 | chr16 | TogoVar | |||
NPIPB2_chr16_11922373_11947045 | 11933617 | CAT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(393): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0003a0001c0004others(24): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(325): Show |
396 | 412 | 0.9612 | -2 | c.386 others(9): Show |
p.His others(5): Show |
NPIPB2 | ENSG00000234719.9 | transcript | ENST00000399147.8 | protein_coding | 4/8 | 387/1194 | 386/1194 | 129/397 | chr16 | TogoVar | |||
NTAQ1_chr8_123411774_123447240 | 123437328 | ACTGGAGG others(13): Show |
A | frameshift_variant others(3): Show |
HIGH | NA18997.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0266 | 1 | 364 | 0.0027 | -20 | c.505 others(30): Show |
p.Gly others(5): Show |
NTAQ1 | ENSG00000156795.8 | transcript | ENST00000287387.7 | protein_coding | 5/6 | 581/1519 | 505/618 | 169/205 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||
OAS1_chr12_112901962_112924903 | 112919388 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(303): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0010others(5): Show | a0001c0001t0001a0001c0004t0001a0001c0010t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(80): Show |
306 | 434 | 0.7051 | 0 | c.103 others(6): Show |
OAS1 | ENSG00000089127.15 | transcript | ENST00000202917.10 | protein_coding | 5/5 | chr12 | TogoVar | |||||||
ODF3L2_chr19_458361_479983 | 464140 | C | CG | frameshift_variant | HIGH | HG00140.hp2 HG00597.hp2 HG00673.hp1 others(24): Show |
a0003a0004 | a0003c0004a0004c0006a0004c0009 | a0003c0004t0001a0003c0004t0002a0004c0006t0001others(3): Show | a0003c0004t0001g0014 a0003c0004t0001g0019 a0003c0004t0001g0068 others(18): Show |
27 | 317 | 0.0852 | 1 | c.573 others(4): Show |
p.Ala others(5): Show |
ODF3L2 | ENSG00000181781.10 | transcript | ENST00000315489.5 | protein_coding | 4/4 | 809/1589 | 573/870 | 191/289 | chr19 | TogoVar | |||
OR10D3_chr11_124178345_124193780 | 124186025 | T | G | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(234): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0011a0003c0003others(4): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0008others(32): Show | a0002c0002t0001g0001 a0002c0002t0001g0009 a0002c0002t0001g0025 others(45): Show |
237 | 434 | 0.5461 | 0 | c.756 others(3): Show |
p.Tyr others(4): Show |
OR10D3 | ENSG00000197309.5 | transcript | ENST00000641351.3 | protein_coding | 2/2 | 806/3561 | 756/939 | 252/312 | chr11 | TogoVar | |||
OR13C2_chr9_104599671_104610627 | 104605111 | TGTTA | T | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(171): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 174 | 410 | 0.4244 | -4 | c.513 others(11): Show |
p.Asn others(5): Show |
OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | 516/957 | 513/957 | 171/318 | chr9 | TogoVar | |||
OR13C2_chr9_104599671_104610627 | 104605383 | AGC | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(204): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 207 | 410 | 0.5049 | -2 | c.243 others(9): Show |
p.Leu others(4): Show |
OR13C2 | ENSG00000276119.1 | transcript | ENST00000542196.2 | protein_coding | 1/1 | 244/957 | 243/957 | 81/318 | chr9 | TogoVar | |||
OR13C5_chr9_104593457_104604413 | 104598487 | GT | G | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(209): Show |
a0001a0004a0005others(4): Show | a0001c0001a0004c0004a0005c0005others(4): Show | a0001c0001t0001a0004c0004t0001a0005c0005t0001others(4): Show | a0001c0001t0001g0000 a0004c0004t0001g0000 a0005c0005t0001g0000 others(4): Show |
212 | 422 | 0.5024 | -1 | c.926 others(4): Show |
p.His others(5): Show |
OR13C5 | ENSG00000277556.1 | transcript | ENST00000374779.3 | protein_coding | 1/1 | 926/957 | 926/957 | 309/318 | chr9 | TogoVar | |||
OR1S1_chr11_58207720_58221084 | 58215722 | A | G | stop_lost | HIGH | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(223): Show |
a0001a0012 | a0001c0001a0001c0005a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0011others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(13): Show |
226 | 458 | 0.4935 | 0 | c.939 others(3): Show |
p.Ter others(11): Show |
OR1S1 | ENSG00000280204.4 | transcript | ENST00000641544.1 | protein_coding | 2/2 | 1112/1474 | 939/939 | 313/312 | chr11 | TogoVar | |||
OR2J1_chr6_29094490_29107701 | 29101522 | C | T | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(142): Show |
a0003a0006 | a0003c0002a0003c0006a0006c0008 | a0003c0002t0001a0003c0002t0005a0003c0002t0006others(4): Show | a0003c0002t0001g0001 a0003c0002t0001g0006 a0003c0002t0005g0001 others(5): Show |
145 | 444 | 0.3266 | 0 | c.580 others(3): Show |
p.Gln others(4): Show |
OR2J1 | ENSG00000204702.6 | transcript | ENST00000641659.2 | protein_coding | 2/2 | 1132/2311 | 580/939 | 194/312 | chr6 | TogoVar | |||
OR2T35_chr1_248631356_248650278 | 248638301 | T | TCA | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(298): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(91): Show |
301 | 306 | 0.9837 | 2 | c.956 others(9): Show |
p.Ile others(5): Show |
OR2T35 | ENSG00000177151.5 | transcript | ENST00000641268.1 | protein_coding | 2/2 | 1011/2957 | 957/972 | 319/323 | chr1 | TogoVar | |||
OR2T35_chr1_248631356_248650278 | 248638643 | TCAGCACG | T | frameshift_variant | HIGH | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(296): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(91): Show |
299 | 308 | 0.9708 | -7 | c.609 others(14): Show |
p.Cys others(5): Show |
OR2T35 | ENSG00000177151.5 | transcript | ENST00000641268.1 | protein_coding | 2/2 | 669/2957 | 609/972 | 203/323 | chr1 | TogoVar | |||
OR2T4_chr1_248356665_248367627 | 248361635 | ATGGGACT others(77): Show |
A | frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(104): Show |
a0003 | a0003c0003a0003c0007a0003c0009 | a0003c0003t0001a0003c0007t0001a0003c0009t0001 | a0003c0003t0001g0000 a0003c0007t0001g0000 a0003c0009t0001g0000 |
107 | 428 | 0.2500 | -84 | c.-29 others(90): Show |
p.Met others(3): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 1/963 | 1/320 | chr1 | TogoVar | ||||
OR2T4_chr1_248356665_248367627 | 248362026 | C | CTA | frameshift_variant | HIGH | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(133): Show |
a0003a0004a0005 | a0003c0003a0003c0007a0003c0009others(2): Show | a0003c0003t0001a0003c0007t0001a0003c0009t0001others(2): Show | a0003c0003t0001g0000 a0003c0007t0001g0000 a0003c0009t0001g0000 others(2): Show |
136 | 428 | 0.3178 | 2 | c.362 others(9): Show |
p.Met others(5): Show |
OR2T4 | ENSG00000196944.5 | transcript | ENST00000366473.4 | protein_coding | 1/1 | 363/963 | 363/963 | 121/320 | chr1 | TogoVar | |||
OR4E1_chr14_21662886_21678818 | 21670348 | G | GGT | frameshift_variant | HIGH | HG00140.hp2 HG00408.hp1 HG00423.hp1 others(151): Show |
a0001a0010a0012 | a0001c0001a0001c0012a0010c0014others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0012 others(11): Show |
154 | 452 | 0.3407 | 2 | c.586 others(9): Show |
p.His others(5): Show |
OR4E1 | ENSG00000276240.4 | transcript | ENST00000641792.2 | protein_coding | 2/2 | 1333/3796 | 587/948 | 196/315 | chr14 | TogoVar | |||
OR4L1_chr14_20055045_20065983 | 20060289 | TCATAGAT others(12): Show |
T | frameshift_variant | HIGH | HG00099.hp1 HG00323.hp2 HG00438.hp2 others(235): Show |
a0001a0003a0005others(1): Show | a0001c0002a0001c0005a0001c0008others(10): Show | a0001c0002t0001a0001c0005t0001a0001c0008t0001others(10): Show | a0001c0002t0001g0000 a0001c0005t0001g0000 a0001c0008t0001g0000 others(10): Show |
238 | 438 | 0.5434 | -19 | c.248 others(26): Show |
p.Ile others(4): Show |
OR4L1 | ENSG00000176246.1 | transcript | ENST00000315683.1 | protein_coding | 1/1 | 248/939 | 248/939 | 83/312 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||
OR52B4_chr11_4362263_4373386 | 4368174 | AG | A | frameshift_variant | HIGH | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(170): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0004 | a0002c0002t0001g0000 a0002c0002t0004g0000 |
173 | 464 | 0.3728 | -1 | c.121 others(4): Show |
p.Leu others(4): Show |
OR52B4 | ENSG00000221996.6 | transcript | ENST00000624801.3 | protein_coding | 1/1 | 212/1124 | 121/945 | 41/314 | chr11 | TogoVar | |||
OR52J3_chr11_5041526_5052461 | 5047432 | C | T | stop_gained | HIGH | HG00639.hp1 HG00642.hp1 HG00642.hp2 others(46): Show |
a0003a0005a0008 | a0003c0003a0005c0005a0008c0015 | a0003c0003t0001a0005c0005t0001a0008c0015t0001 | a0003c0003t0001g0000 a0005c0005t0001g0000 a0008c0015t0001g0000 |
49 | 446 | 0.1099 | 0 | c.907 others(3): Show |
p.Arg others(4): Show |
OR52J3 | ENSG00000205495.1 | transcript | ENST00000380370.1 | protein_coding | 1/1 | 907/936 | 907/936 | 303/311 | chr11 | TogoVar | |||
OR7G3_chr19_9121012_9131950 | 9126022 | G | GATGGT | frameshift_variant | HIGH | HG00280.hp2 HG00408.hp1 HG00423.hp2 others(174): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0014a0003c0003others(3): Show | a0002c0002t0001a0002c0014t0001a0003c0003t0001others(3): Show | a0002c0002t0001g0000 a0002c0014t0001g0000 a0003c0003t0001g0000 others(3): Show |
177 | 400 | 0.4425 | 5 | c.924 others(12): Show |
p.Ser others(5): Show |
OR7G3 | ENSG00000170920.2 | transcript | ENST00000305444.2 | protein_coding | 1/1 | 928/939 | 928/939 | 310/312 | chr19 | TogoVar | |||
OR7G3_chr19_9121012_9131950 | 9126293 | G | A | stop_gained | HIGH | HG00673.hp2 HG01884.hp2 HG02145.hp2 others(12): Show |
a0004a0005 | a0004c0004a0005c0006 | a0004c0004t0001a0005c0006t0001 | a0004c0004t0001g0000 a0005c0006t0001g0000 |
15 | 400 | 0.0375 | 0 | c.658 others(3): Show |
p.Arg others(4): Show |
OR7G3 | ENSG00000170920.2 | transcript | ENST00000305444.2 | protein_coding | 1/1 | 658/939 | 658/939 | 220/312 | chr19 | TogoVar | |||
OS9_chr12_57689132_57726557 | 57720435 | TGGGCTGA others(3): Show |
T | frameshift_variant | HIGH | NA18997.hp2 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0146 | 1 | 350 | 0.0029 | -10 | c.179 others(19): Show |
p.Trp others(5): Show |
OS9 | ENSG00000135506.17 | transcript | ENST00000315970.12 | protein_coding | 14/15 | 1827/2682 | 1797/2004 | 599/667 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
PDZD4_chrX_153797166_153835544 | 153803828 | A | AC | frameshift_variant | HIGH | HG02056.hp1 HG02080.hp2 HG02145.hp1 others(5): Show |
a0002a0003 | a0002c0006a0003c0004a0003c0014 | a0002c0006t0001a0003c0004t0001a0003c0004t0003others(2): Show | a0002c0006t0001g0037 a0002c0006t0001g0080 a0003c0004t0001g0059 others(5): Show |
8 | 279 | 0.0287 | 1 | c.185 others(5): Show |
p.Val others(5): Show |
PDZD4 | ENSG00000067840.13 | transcript | ENST00000393758.7 | protein_coding | 8/8 | 2098/3761 | 1852/2328 | 618/775 | chrX | TogoVar | |||
PITRM1_chr10_3132728_3177782 | 3166375 | T | TGCACGCT others(18): Show |
frameshift_variant others(1): Show |
HIGH | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(276): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0005others(43): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(44): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0010 others(185): Show |
279 | 442 | 0.6312 | 25 | c.271 others(32): Show |
p.Gln others(4): Show |
PITRM1 | ENSG00000107959.17 | transcript | ENST00000224949.9 | protein_coding | 4/27 | 281/3427 | 271/3114 | 91/1037 | chr10 | TogoVar | |||
PLA2G4D_chr15_42062009_42099562 | 42083780 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp2 HG00621.hp2 HG01192.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(1): Show | a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0042 others(14): Show |
37 | 430 | 0.0860 | 0 | c.472 others(5): Show |
PLA2G4D | ENSG00000159337.7 | transcript | ENST00000290472.4 | protein_coding | 6/19 | chr15 | TogoVar | |||||||
PLK4_chr4_127875893_127904224 | 127891075 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(76): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(4): Show | a0001c0001t0001g0087 a0001c0001t0001g0097 a0001c0001t0001g0112 others(43): Show |
79 | 357 | 0.2213 | 1 | c.183 others(7): Show |
PLK4 | ENSG00000142731.11 | transcript | ENST00000270861.10 | protein_coding | 7/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PLK5_chr19_1519077_1541046 | 1534043 | T | C | splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(207): Show |
a0001a0006a0011others(1): Show | a0001c0001a0001c0007a0001c0016others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(32): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(149): Show |
210 | 428 | 0.4907 | 0 | c.825 others(5): Show |
PLK5 | ENSG00000185988.15 | transcript | ENST00000454744.7 | protein_coding | 13/13 | chr19 | TogoVar | |||||||
PMIS2_chr19_35581173_35592296 | 35586327 | CT | C | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(69): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0002 a0003c0003t0001g0003 a0003c0003t0001g0009 others(2): Show |
72 | 442 | 0.1629 | -1 | c.69d others(3): Show |
p.Thr others(4): Show |
PMIS2 | ENSG00000283758.2 | transcript | ENST00000640449.2 | protein_coding | 1/2 | 156/690 | 69/453 | 23/150 | chr19 | TogoVar | |||
PRAMEF33_chr1_13298539_13313907 | 13307108 | G | A | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(242): Show |
a0001a0003a0023others(2): Show | a0001c0001a0001c0003a0001c0005others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(36): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0034 others(62): Show |
245 | 416 | 0.5889 | 0 | c.758 others(3): Show |
p.Trp others(4): Show |
PRAMEF33 | ENSG00000237700.2 | transcript | ENST00000437300.2 | protein_coding | 3/4 | 831/1518 | 758/1425 | 253/474 | chr1 | TogoVar | |||
PRB3_chr12_11260914_11274707 | 11267400 | A | AG | frameshift_variant | HIGH | HG00544.hp1 HG00597.hp1 HG00597.hp2 others(77): Show |
a0003a0005a0006others(5): Show | a0003c0003a0003c0028a0005c0005others(7): Show | a0003c0003t0002a0003c0028t0002a0005c0005t0002others(7): Show | a0003c0003t0002g0004 a0003c0003t0002g0013 a0003c0003t0002g0022 others(12): Show |
80 | 442 | 0.1810 | 1 | c.848 others(4): Show |
p.His others(5): Show |
PRB3 | ENSG00000197870.14 | transcript | ENST00000538488.3 | protein_coding | 3/4 | 886/1227 | 848/1056 | 283/351 | chr12 | TogoVar |