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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | |||
KRTAP19-6_chr21_30536535_30546864 | 30541662 | AG | A | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(300): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0005t0001a0001c0006t0001others(2): Show | a0001c0001t0001g0000 a0001c0005t0001g0000 a0001c0006t0001g0000 others(2): Show |
303 | 392 | 0.7730 | -1 | c.171 others(4): Show |
p.Tyr others(4): Show |
KRTAP19-6 | ENSG00000186925.6 | transcript | ENST00000334046.5 | protein_coding | 1/1 | 202/330 | 171/177 | 57/58 | chr21 | TogoVar | |||
KRTAP2-2_chr17_41049498_41060230 | 41054887 | C | CGCAGGGG others(98): Show |
stop_gained others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(143): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0001c0002t0010a0003c0004t0001others(1): Show | a0001c0002t0001g0000 a0001c0002t0010g0000 a0003c0004t0001g0000 others(1): Show |
146 | 211 | 0.6919 | 105 | c.324 others(112): Show |
p.Cys others(118): Show |
KRTAP2-2 | ENSG00000214518.4 | transcript | ENST00000398477.1 | protein_coding | 1/1 | 343/733 | 324/372 | 108/123 | chr17 | TogoVar | |||
KRTAP4-16_chr17_41096502_41107209 | 41101562 | G | GGGGAAAG others(69): Show |
frameshift_variant others(1): Show |
HIGH | HG00323.hp1 HG00597.hp1 HG00621.hp1 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 46 | 422 | 0.1090 | 76 | c.647 others(83): Show |
p.Ser others(5): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 1/1 | 647/708 | 647/708 | 216/235 | chr17 | TogoVar | |||
KRTAP4-16_chr17_41096502_41107209 | 41101698 | G | GGGGAAGG others(19): Show |
frameshift_variant | HIGH | HG00323.hp1 HG00423.hp1 HG00597.hp1 others(51): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 54 | 422 | 0.1280 | 26 | c.511 others(33): Show |
p.Pro others(5): Show |
KRTAP4-16 | ENSG00000241241.1 | transcript | ENST00000440582.1 | protein_coding | 1/1 | 511/708 | 511/708 | 171/235 | 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 | |||
KRTAP4-9_chr17_41100389_41111488 | 41105868 | CCGCCCCT others(22): Show |
C | frameshift_variant | HIGH | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 424 | 0.0024 | -29 | c.482 others(36): Show |
p.Arg others(5): Show |
KRTAP4-9 | ENSG00000212722.9 | transcript | ENST00000391415.2 | protein_coding | 1/1 | 482/1100 | 482/633 | 161/210 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
LGALS9B_chr17_20444395_20472539 | 20467469 | A | ATC | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(248): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0025a0001c0026others(16): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(46): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(160): Show |
251 | 432 | 0.5810 | 2 | c.-1_ others(6): Show |
p.Met others(3): Show |
LGALS9B | ENSG00000170298.16 | transcript | ENST00000423676.8 | protein_coding | 1/11 | 70/1718 | 1/1071 | 1/356 | 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 | 54219897 | AAGGGGCT others(8103): Show |
A | exon_loss_variant | HIGH | HG00438.hp1 HG00621.hp2 HG02148.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 6 | 434 | 0.0138 | -8110 | c.-50 others(14): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 7/13 | 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 | |||
LILRB3_chr19_54211278_54228007 | 54221872 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0019 others(21): Show |
196 | 454 | 0.4317 | 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 | |||
LMTK3_chr19_48480271_48516835 | 48498801 | C | CG | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(203): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0005a0001c0006others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(165): Show |
206 | 308 | 0.6688 | 1 | c.226 others(5): Show |
p.Pro others(5): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/15 | 2526/5144 | 2267/4383 | 756/1460 | chr19 | TogoVar | |||
LMTK3_chr19_48480271_48516835 | 48498893 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(49): Show |
a0003a0004a0005 | a0003c0003a0003c0015a0003c0016others(9): Show | a0003c0003t0001a0003c0003t0002a0003c0015t0001others(11): Show | a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0012 others(43): Show |
52 | 312 | 0.1667 | 1 | c.217 others(5): Show |
p.Ala others(5): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/15 | 2434/5144 | 2175/4383 | 725/1460 | chr19 | TogoVar | |||
LMTK3_chr19_48480271_48516835 | 48499794 | T | TG | frameshift_variant | HIGH | HG00423.hp2 HG00544.hp2 HG00621.hp1 others(8): Show |
a0005 | a0005c0008a0005c0009a0005c0038others(1): Show | a0005c0008t0001a0005c0009t0001a0005c0038t0001others(1): Show | a0005c0008t0001g0088 a0005c0008t0001g0129 a0005c0008t0001g0155 others(8): Show |
11 | 312 | 0.0353 | 1 | c.127 others(5): Show |
p.Pro others(5): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/15 | 1533/5144 | 1274/4383 | 425/1460 | 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 | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0012 others(93): Show |
123 | 420 | 0.2929 | 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 | ||
MAGEE2_chrX_75777987_75790254 | 75784694 | C | A | stop_gained | HIGH | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(120): Show |
a0002a0005a0007 | a0002c0002a0002c0003a0002c0009others(3): Show | a0002c0002t0001a0002c0003t0001a0002c0009t0001others(3): Show | a0002c0002t0001g0000 a0002c0003t0001g0000 a0002c0009t0001g0000 others(3): Show |
123 | 275 | 0.4473 | 0 | c.358 others(3): Show |
p.Glu others(4): Show |
MAGEE2 | ENSG00000186675.7 | transcript | ENST00000373359.4 | protein_coding | 1/1 | 561/2268 | 358/1572 | 120/523 | chrX | TogoVar | |||
MDP1_chr14_24208943_24221066 | 24214060 | CA | C | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(91): Show |
a0002a0004 | a0002c0002a0002c0004a0004c0005 | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(1): Show | a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0009 others(11): Show |
94 | 402 | 0.2338 | -1 | c.494 others(4): Show |
p.Leu others(5): Show |
MDP1 | ENSG00000213920.9 | transcript | ENST00000288087.12 | protein_coding | 6/6 | 605/723 | 494/531 | 165/176 | chr14 | TogoVar | |||
MICA_chr6_31398595_31420315 | 31412380 | TGCTG | T | frameshift_variant | HIGH | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(43): Show |
a0006a0007a0010others(1): Show | a0006c0007a0007c0008a0010c0014others(2): Show | a0006c0007t0004a0007c0008t0005a0010c0014t0003others(2): Show | a0006c0007t0004g0008 a0006c0007t0004g0067 a0006c0007t0004g0068 others(21): Show |
46 | 438 | 0.1050 | -4 | c.953 others(11): 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 | ||
MICA_chr6_31398595_31420315 | 31412384 | G | GCT | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp1 HG00621.hp1 others(110): Show |
a0003a0004a0013others(1): Show | a0003c0003a0004c0005a0004c0013others(2): Show | a0003c0003t0001a0003c0003t0006a0004c0005t0001others(4): Show | a0003c0003t0001g0001 a0003c0003t0001g0012 a0003c0003t0001g0020 others(34): Show |
113 | 352 | 0.3210 | 2 | c.952 others(9): Show |
p.Gly others(5): Show |
MICA | ENSG00000204520.14 | transcript | ENST00000449934.7 | protein_coding | 5/6 | 991/1370 | 953/999 | 318/332 | chr6 | TogoVar | |||
MOGAT3_chr7_101190007_101206036 | 101200433 | A | T | stop_gained | HIGH | HG00621.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0046 | 1 | 436 | 0.0023 | 0 | c.192 others(3): Show |
p.Tyr others(3): Show |
MOGAT3 | ENSG00000106384.12 | transcript | ENST00000223114.9 | protein_coding | 2/7 | 374/2147 | 192/1026 | 64/341 | chr7 | TogoVar | |||
MRGPRX3_chr11_18127571_18143488 | 18138046 | C | T | stop_gained | HIGH | HG00423.hp1 HG00621.hp2 |
a0011 | a0011c0014 | a0011c0014t0001 | a0011c0014t0001g0001 | 2 | 438 | 0.0046 | 0 | c.844 others(3): Show |
p.Gln others(4): Show |
MRGPRX3 | ENSG00000179826.8 | transcript | ENST00000621697.2 | protein_coding | 2/2 | 1038/1480 | 844/969 | 282/322 | chr11 | TogoVar | |||
MROH2B_chr5_40993020_41076342 | 41061613 | C | T | stop_gained | HIGH | HG00280.hp2 HG00323.hp2 HG00408.hp2 others(94): Show |
a0001a0002a0004others(8): Show | a0001c0005a0001c0063a0002c0004others(17): Show | a0001c0005t0002a0001c0063t0002a0002c0004t0002others(17): Show | a0001c0005t0002g0001 a0001c0005t0002g0002 a0001c0005t0002g0028 others(88): Show |
97 | 394 | 0.2462 | 0 | c.572 others(3): Show |
p.Trp others(4): Show |
MROH2B | ENSG00000171495.17 | transcript | ENST00000399564.5 | protein_coding | 6/42 | 1062/5280 | 572/4758 | 191/1585 | chr5 | TogoVar | |||
MROH6_chr8_143561192_143577772 | 143567371 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(34): Show |
a0004a0006a0014others(4): Show | a0004c0004a0004c0030a0006c0007others(6): Show | a0004c0004t0003a0004c0004t0012a0004c0004t0026others(8): Show | a0004c0004t0003g0016 a0004c0004t0003g0017 a0004c0004t0003g0042 others(19): Show |
37 | 436 | 0.0849 | 1 | c.202 others(5): Show |
p.Cys others(5): Show |
MROH6 | ENSG00000204839.9 | transcript | ENST00000398882.8 | protein_coding | 14/14 | 2085/3265 | 2027/2160 | 676/719 | chr8 | TogoVar | |||
MRPL36_chr5_1793385_1804837 | 1799789 | T | TACCCGGC others(11): Show |
splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(82): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0031 others(2): Show |
85 | 430 | 0.1977 | 18 | c.-28 others(27): Show |
MRPL36 | ENSG00000171421.13 | transcript | ENST00000505059.7 | protein_coding | 1/1 | chr5 | 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 | |||||||
MT1G_chr16_56661730_56673065 | 56667382 | T | A | splice_acceptor_variant others(1): Show |
HIGH | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(125): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0002g0002 others(4): Show |
128 | 468 | 0.2735 | 0 | c.29- others(4): Show |
MT1G | ENSG00000125144.14 | transcript | ENST00000379811.4 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195783354 | A | AAGGCTGG others(186): Show |
frameshift_variant others(1): Show |
HIGH | HG00621.hp2 HG00639.hp1 HG00741.hp2 others(13): Show |
a0003a0020a0097others(1): Show | a0003c0004a0003c0006a0003c0144others(4): Show | a0003c0004t0003a0003c0006t0003a0003c0144t0003others(4): Show | a0003c0004t0003g0202 a0003c0004t0003g0203 a0003c0004t0003g0204 others(13): Show |
16 | 248 | 0.0645 | 193 | c.822 others(202): Show |
p.Ser others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8337/16756 | 8225/16239 | 2742/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195783358 | TC | T | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00621.hp2 others(19): Show |
a0003a0014a0020others(6): Show | a0003c0004a0003c0006a0003c0144others(9): Show | a0003c0004t0003a0003c0006t0003a0003c0144t0003others(9): Show | a0003c0004t0003g0202 a0003c0004t0003g0203 a0003c0004t0003g0204 others(19): Show |
22 | 243 | 0.0905 | -1 | c.822 others(5): Show |
p.Glu others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 8333/16756 | 8221/16239 | 2741/5412 | chr3 | TogoVar | |||
MYO15A_chr17_18103756_18184800 | 18122105 | A | AG | frameshift_variant | HIGH | HG00621.hp1 HG00621.hp2 HG01099.hp1 others(9): Show |
a0009a0033a0034others(3): Show | a0009c0016a0009c0026a0009c0044others(5): Show | a0009c0016t0001a0009c0026t0004a0009c0044t0005others(5): Show | a0009c0016t0001g0150 a0009c0016t0001g0180 a0009c0016t0001g0234 others(9): Show |
12 | 326 | 0.0368 | 1 | c.331 others(5): Show |
p.Glu others(6): Show |
MYO15A | ENSG00000091536.20 | transcript | ENST00000647165.2 | protein_coding | 2/66 | 3600/11811 | 3312/10593 | 1104/3530 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
NANOS1_chr10_119024714_119038730 | 119029847 | G | GC | frameshift_variant | HIGH | HG00621.hp2 HG01081.hp2 HG01099.hp1 others(25): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(2): Show | a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0005g0000 others(2): Show |
28 | 401 | 0.0698 | 1 | c.53d others(3): Show |
p.Pro others(4): Show |
NANOS1 | ENSG00000188613.7 | transcript | ENST00000425699.3 | protein_coding | 1/1 | 142/4017 | 54/879 | 18/292 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||
NBPF10_chr1_146059711_146149804 | 146078537 | CAAATGGT others(9450): Show |
C | exon_loss_variant | HIGH | HG00544.hp2 HG00621.hp2 NA19003.hp1 |
a0018a0039 | a0018c0035a0039c0138 | a0018c0035t0004a0039c0138t0004 | a0018c0035t0004g0230 a0018c0035t0004g0231 a0039c0138t0004g0223 |
3 | 282 | 0.0106 | -9457 | c.788 others(17): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 74/90 | chr1 | TogoVar | |||||||
NBPF10_chr1_146059711_146149804 | 146126409 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(155): Show |
a0002a0006a0007others(78): Show | a0002c0001a0006c0004a0006c0019others(83): Show | a0002c0001t0001a0002c0001t0021a0002c0001t0022others(86): Show | a0002c0001t0001g0003 a0002c0001t0001g0004 a0002c0001t0001g0024 others(145): Show |
158 | 282 | 0.5603 | 0 | c.185 others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 13/89 | chr1 | TogoVar | |||||||
NBPF11_chr1_148097151_148157281 | 148105470 | C | CATCT | frameshift_variant | HIGH | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(153): Show |
a0002a0003a0004others(14): Show | a0002c0002a0002c0023a0002c0041others(17): Show | a0002c0002t0002a0002c0002t0014a0002c0002t0018others(25): Show | a0002c0002t0002g0001 a0002c0002t0002g0021 a0002c0002t0002g0022 others(145): Show |
156 | 386 | 0.4041 | 4 | c.236 others(13): Show |
p.Val others(5): Show |
NBPF11 | ENSG00000263956.8 | transcript | ENST00000682118.1 | protein_coding | 22/24 | 3441/5423 | 2361/2598 | 787/865 | chr1 | TogoVar | |||
NDUFA7_chr19_8306284_8326375 | 8310729 | CTGGGTAT others(3934): Show |
C | exon_loss_variant others(5): Show |
HIGH | HG00621.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0101 | 1 | 400 | 0.0025 | -3941 | c.251 others(13): Show |
NDUFA7 | ENSG00000267855.6 | transcript | ENST00000301457.3 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
NDUFV3_chr21_42888309_42918299 | 42903610 | C | T | stop_gained | HIGH | HG00609.hp1 HG00621.hp1 HG00639.hp1 others(27): Show |
a0003 | a0003c0004a0003c0005 | a0003c0004t0006a0003c0004t0007a0003c0004t0019others(12): Show | a0003c0004t0006g0005 a0003c0004t0006g0018 a0003c0004t0006g0039 others(23): Show |
30 | 346 | 0.0867 | 0 | c.598 others(3): Show |
p.Arg others(4): Show |
NDUFV3 | ENSG00000160194.18 | transcript | ENST00000354250.7 | protein_coding | 3/4 | 623/5725 | 598/1422 | 200/473 | chr21 | TogoVar | |||
NLRP8_chr19_55942832_55993629 | 55987913 | G | C | stop_lost | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(250): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0002a0001c0008others(39): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(80): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0012 others(222): Show |
253 | 348 | 0.7270 | 0 | c.314 others(4): Show |
p.Ter others(12): Show |
NLRP8 | ENSG00000179709.8 | transcript | ENST00000291971.7 | protein_coding | 10/10 | 3218/3934 | 3147/3147 | 1049/1048 | chr19 | TogoVar | |||
NMS_chr2_100465482_100488280 | 100470489 | A | G | start_lost | HIGH | HG00438.hp2 HG00544.hp2 HG00621.hp1 others(9): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0001 a0003c0004t0001g0052 a0003c0004t0001g0057 others(1): Show |
12 | 394 | 0.0305 | 0 | c.1A> others(1): Show |
p.Met others(2): Show |
NMS | ENSG00000204640.1 | transcript | ENST00000376865.1 | protein_coding | 1/10 | 8/485 | 1/462 | 1/153 | chr2 | TogoVar | |||
NPHP3_chr3_132675609_132727409 | 132699988 | C | T | stop_gained | HIGH | HG00621.hp1 | a0008 | a0008c0020 | a0008c0020t0002 | a0008c0020t0002g0106 | 1 | 340 | 0.0029 | 0 | c.181 others(4): Show |
p.Trp others(4): Show |
NPHP3 | ENSG00000113971.21 | transcript | ENST00000337331.10 | protein_coding | 12/27 | 1871/5348 | 1817/3993 | 606/1330 | chr3 | 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 | |||
NPIPB13_chr16_30217897_30253479 | 30224067 | C | CCCCCGCA others(6): Show |
frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(81): Show |
a0001a0002a0003others(19): Show | a0001c0001a0001c0021a0001c0033others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0038 a0001c0001t0002g0118 a0001c0001t0002g0119 others(81): Show |
84 | 144 | 0.5833 | 13 | c.237 others(22): Show |
p.Pro others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 5121/6292 | 2378/3417 | 793/1138 | chr16 | TogoVar | |||
NPIPB13_chr16_30217897_30253479 | 30224193 | CCCCCGCA others(6): Show |
C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(120): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0002a0001c0017others(42): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(64): Show | a0001c0001t0001g0035 a0001c0001t0001g0038 a0001c0001t0001g0040 others(120): Show |
123 | 144 | 0.8542 | -13 | c.224 others(22): Show |
p.Glu others(5): Show |
NPIPB13 | ENSG00000198064.15 | transcript | ENST00000697092.1 | protein_coding | 8/8 | 4995/6292 | 2240/3417 | 747/1138 | chr16 | TogoVar | |||
NPIPB4_chr16_21829582_21862756 | 21837324 | G | GTGAGCAC others(30): Show |
frameshift_variant | HIGH | HG00621.hp2 | a0029 | a0029c0028 | a0029c0028t0001 | a0029c0028t0001g0135 | 1 | 204 | 0.0049 | 37 | c.106 others(46): Show |
p.Leu others(5): Show |
NPIPB4 | ENSG00000185864.19 | transcript | ENST00000682606.1 | protein_coding | 8/8 | 1277/4020 | 1062/3669 | 354/1222 | chr16 | TogoVar | |||
NPIPB5_chr16_22505891_22541535 | 22534710 | C | CCGAGCGT others(12): Show |
frameshift_variant | HIGH | HG00621.hp1 HG01496.hp1 HG02040.hp2 others(1): Show |
a0009a0011a0016others(1): Show | a0009c0004a0011c0008a0016c0024others(1): Show | a0009c0004t0010a0011c0008t0016a0016c0024t0002others(1): Show | a0009c0004t0010g0043 a0011c0008t0016g0039 a0016c0024t0002g0006 others(1): Show |
4 | 46 | 0.0870 | 19 | c.172 others(28): Show |
p.Phe others(5): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4640/6463 | 1729/3402 | 577/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
NPIPB5_chr16_22505891_22541535 | 22534941 | C | CTTCCACC others(97): Show |
frameshift_variant others(1): Show |
HIGH | HG00621.hp1 | a0009 | a0009c0004 | a0009c0004t0010 | a0009c0004t0010g0043 | 1 | 44 | 0.0227 | 104 | c.195 others(113): Show |
p.Val others(5): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 4870/6463 | 1959/3402 | 653/1133 | chr16 | TogoVar | |||
NPIPB5_chr16_22505891_22541535 | 22535450 | G | GTCTGCGG others(6): Show |
frameshift_variant | HIGH | HG00621.hp1 | a0009 | a0009c0004 | a0009c0004t0010 | a0009c0004t0010g0043 | 1 | 46 | 0.0217 | 13 | c.247 others(22): Show |
p.Gly others(5): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5388/6463 | 2477/3402 | 826/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
NPIPB5_chr16_22505891_22541535 | 22535571 | CGAGCGTC others(6): Show |
C | frameshift_variant | HIGH | HG00323.hp1 HG00621.hp1 HG01496.hp2 others(1): Show |
a0006a0009a0012others(1): Show | a0006c0022a0009c0004a0012c0019others(1): Show | a0006c0022t0001a0009c0004t0010a0012c0019t0012others(1): Show | a0006c0022t0001g0009 a0009c0004t0010g0043 a0012c0019t0012g0010 others(1): Show |
4 | 46 | 0.0870 | -13 | c.260 others(22): Show |
p.Glu others(5): Show |
NPIPB5 | ENSG00000243716.12 | transcript | ENST00000424340.7 | protein_coding | 7/7 | 5514/6463 | 2603/3402 | 868/1133 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||
NTN5_chr19_48656407_48678017 | 48661962 | G | C | stop_gained | HIGH | HG00621.hp1 | a0006 | a0006c0016 | a0006c0016t0002 | a0006c0016t0002g0105 | 1 | 410 | 0.0024 | 0 | c.118 others(4): Show |
p.Tyr others(4): Show |
NTN5 | ENSG00000142233.14 | transcript | ENST00000270235.11 | protein_coding | 7/7 | 1291/1846 | 1185/1470 | 395/489 | chr19 | TogoVar | |||
NUTM2A_chr10_87220448_87239978 | 87226077 | TC | T | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(378): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(65): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(74): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(158): Show |
381 | 402 | 0.9478 | -1 | c.250 others(4): Show |
p.Leu others(4): Show |
NUTM2A | ENSG00000184923.12 | transcript | ENST00000381707.6 | protein_coding | 1/7 | 633/3290 | 250/2637 | 84/878 | INFO_REALIGN_3_PRIME | chr10 | 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 |