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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KIR3DL1_chr19_54811468_54835778 | 54830138 | C | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0003a0002c0031a0026c0030 | a0002c0003t0002a0002c0031t0002a0026c0030t0002 | a0002c0003t0002g0002 a0002c0003t0002g0021 a0002c0003t0002g0028 others(12): Show |
62 | 394 | 0.1574 | 0 | c.119 others(4): Show |
p.Gln others(4): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 9/9 | 1231/1871 | 1198/1335 | 400/444 | chr19 | TogoVar | |||
KIR3DL1_chr19_54811468_54835778 | 54830273 | T | C | stop_lost | HIGH | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0003a0002c0031a0026c0030 | a0002c0003t0002a0002c0031t0002a0026c0030t0002 | a0002c0003t0002g0002 a0002c0003t0002g0021 a0002c0003t0002g0028 others(12): Show |
62 | 394 | 0.1574 | 0 | c.133 others(4): Show |
p.Ter others(11): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 9/9 | 1366/1871 | 1333/1335 | 445/444 | chr19 | TogoVar | |||
KISS1_chr1_204185341_204201491 | 204190483 | CT | C | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(118): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0004a0002c0002t0014others(1): Show | a0002c0002t0002g0001 a0002c0002t0002g0008 a0002c0002t0002g0020 others(31): Show |
121 | 398 | 0.3040 | -1 | c.417 others(4): Show |
p.Ter others(5): Show |
KISS1 | ENSG00000170498.10 | transcript | ENST00000367194.5 | protein_coding | 3/3 | 571/714 | 417/417 | 139/138 | chr1 | TogoVar | |||
KLK12_chr19_51024094_51040002 | 51031874 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(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 | |||||||
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 | |||
KRTAP10-6_chr21_44586268_44597505 | 44591702 | G | T | stop_gained | HIGH | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(113): Show |
a0002a0006a0010others(9): Show | a0002c0002a0002c0006a0002c0024others(19): Show | a0002c0002t0002a0002c0006t0002a0002c0024t0002others(21): Show | a0002c0002t0002g0000 a0002c0006t0002g0000 a0002c0024t0002g0000 others(21): Show |
116 | 426 | 0.2723 | 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 | |||
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 | |||
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 | |||
LCN10_chr9_136733170_136747940 | 136740043 | G | A | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00423.hp1 others(83): Show |
a0002a0004a0005 | a0002c0002a0004c0006a0005c0007 | a0002c0002t0002a0002c0002t0003a0002c0002t0006others(6): Show | a0002c0002t0002g0002 a0002c0002t0002g0017 a0002c0002t0002g0051 others(12): Show |
86 | 390 | 0.2205 | 0 | c.481 others(3): Show |
p.Gln others(4): Show |
LCN10 | ENSG00000187922.14 | transcript | ENST00000497771.6 | protein_coding | 5/6 | 518/1995 | 481/603 | 161/200 | chr9 | 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 | |||
LILRA2_chr19_54568790_54595287 | 54587200 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00544.hp2 HG00558.hp2 HG00597.hp2 others(65): Show |
a0001a0017a0024others(1): Show | a0001c0001a0017c0023a0024c0021others(1): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0035others(3): Show | a0001c0001t0003g0003 a0001c0001t0003g0016 a0001c0001t0003g0024 others(12): Show |
68 | 426 | 0.1596 | 0 | c.130 others(6): Show |
LILRA2 | ENSG00000239998.7 | transcript | ENST00000391738.8 | protein_coding | 7/7 | 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 | |||
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 | ||
LOC122455342_chr17_76563797_76574648 | 76569083 | T | TG | frameshift_variant | HIGH | HG00423.hp1 HG00423.hp2 HG00741.hp1 others(18): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0004t0001 | a0002c0003t0001g0000 a0002c0004t0001g0000 |
21 | 438 | 0.0479 | 1 | c.565 others(4): Show |
p.His others(5): Show |
LOC122455342 | ENSG00000284526.3 | transcript | ENST00000713548.1 | protein_coding | 1/1 | 565/852 | 565/852 | 189/283 | chr17 | TogoVar | |||
LPL_chr8_19934253_19972259 | 19962213 | C | G | stop_gained | HIGH | HG00323.hp1 HG01081.hp1 HG01358.hp1 others(31): Show |
a0002a0007 | a0002c0003a0002c0013a0007c0016 | a0002c0003t0001a0002c0003t0004a0002c0003t0025others(2): Show | a0002c0003t0001g0258 a0002c0003t0004g0005 a0002c0003t0004g0013 others(21): Show |
34 | 382 | 0.0890 | 0 | c.142 others(4): Show |
p.Ser others(4): Show |
LPL | ENSG00000175445.17 | transcript | ENST00000650287.1 | protein_coding | 9/10 | 1609/3565 | 1421/1428 | 474/475 | chr8 | TogoVar | |||
M1AP_chr2_74552883_74653330 | 74558799 | A | AGGCTCTG others(24): Show |
frameshift_variant | HIGH | NA18979.hp2 | a0005 | a0005c0008 | a0005c0008t0002 | a0005c0008t0002g0077 | 1 | 246 | 0.0041 | 31 | c.147 others(40): Show |
p.Ser others(5): Show |
M1AP | ENSG00000159374.18 | transcript | ENST00000421985.2 | protein_coding | 11/11 | 1627/2544 | 1509/1593 | 503/530 | chr2 | 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 | |||
MALT1_chr18_58666465_58759477 | 58696337 | A | ATT | splice_acceptor_variant others(1): Show |
HIGH | HG01891.hp1 HG02055.hp2 HG02486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0034others(3): Show | a0001c0001t0003g0236 a0001c0001t0012g0068 a0001c0001t0034g0119 others(3): Show |
6 | 292 | 0.0205 | 2 | c.377 others(13): Show |
MALT1 | ENSG00000172175.16 | transcript | ENST00000649217.2 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr18 | 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 | 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 | |||
MICA_chr6_31398595_31420315 | 31412384 | G | GCTGCTGC others(4): Show |
frameshift_variant | HIGH | HG00140.hp2 HG00642.hp1 HG00741.hp1 others(83): Show |
a0002a0009a0012others(3): Show | a0002c0001a0009c0010a0012c0012others(3): Show | a0002c0001t0002a0002c0001t0003a0009c0010t0003others(4): Show | a0002c0001t0002g0029 a0002c0001t0003g0006 a0002c0001t0003g0009 others(21): Show |
86 | 325 | 0.2646 | 11 | c.952 others(18): Show |
p.Gly others(5): Show |
MICA | ENSG00000204520.14 | transcript | ENST00000449934.7 | protein_coding | 5/6 | 991/1370 | 953/999 | 318/332 | chr6 | 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 | |||
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 | |||||||
MS4A12_chr11_60487778_60512430 | 60497529 | C | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(177): Show |
a0002 | a0002c0002a0002c0004a0002c0005others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(3): Show | a0002c0002t0001g0004 a0002c0002t0001g0008 a0002c0002t0001g0021 others(55): Show |
180 | 430 | 0.4186 | 0 | c.211 others(3): Show |
p.Gln others(3): Show |
MS4A12 | ENSG00000071203.9 | transcript | ENST00000016913.8 | protein_coding | 2/7 | 268/1167 | 211/804 | 71/267 | chr11 | TogoVar | |||
MS4A14_chr11_60391459_60422756 | 60397879 | ATT | A | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(248): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(87): Show |
251 | 426 | 0.5892 | -2 | c.167 others(9): Show |
p.Ile others(4): Show |
MS4A14 | ENSG00000166928.11 | transcript | ENST00000300187.11 | protein_coding | 2/5 | 287/2908 | 167/2040 | 56/679 | 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 | |||
MYO5B_chr18_49817789_50200147 | 49864139 | A | AC | splice_donor_variant others(1): Show |
HIGH | HG00738.hp1 HG00738.hp2 NA18979.hp2 |
a0001a0003a0006 | a0001c0001a0003c0004a0006c0025 | a0001c0001t0001a0003c0004t0003a0006c0025t0002 | a0001c0001t0001g0146 a0003c0004t0003g0110 a0006c0025t0002g0106 |
3 | 236 | 0.0127 | 1 | c.384 others(7): Show |
MYO5B | ENSG00000167306.21 | transcript | ENST00000285039.12 | protein_coding | 28/39 | chr18 | TogoVar | |||||||
MYO7A_chr11_77123246_77220241 | 77179796 | A | AC | frameshift_variant | HIGH | HG00639.hp1 HG00735.hp2 HG01106.hp2 others(51): Show |
a0005a0008a0020others(1): Show | a0005c0008a0005c0017a0005c0026others(35): Show | a0005c0008t0001a0005c0017t0001a0005c0026t0001others(35): Show | a0005c0008t0001g0006 a0005c0008t0001g0031 a0005c0008t0001g0050 others(51): Show |
54 | 354 | 0.1525 | 1 | c.243 others(5): Show |
p.Arg others(5): Show |
MYO7A | ENSG00000137474.23 | transcript | ENST00000409709.9 | protein_coding | 21/49 | 2722/7483 | 2432/6648 | 811/2215 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
MYPOP_chr19_45885023_45907613 | 45891133 | T | TG | frameshift_variant | HIGH | HG00438.hp2 HG01099.hp2 HG01175.hp1 others(18): Show |
a0002a0008 | a0002c0005a0002c0009a0002c0013others(3): Show | a0002c0005t0001a0002c0005t0007a0002c0009t0001others(4): Show | a0002c0005t0001g0029 a0002c0005t0001g0070 a0002c0005t0001g0073 others(17): Show |
21 | 406 | 0.0517 | 1 | c.689 others(4): Show |
p.Pro others(5): Show |
MYPOP | ENSG00000176182.6 | transcript | ENST00000322217.6 | protein_coding | 3/3 | 785/1896 | 689/1200 | 230/399 | chr19 | TogoVar | |||
NBPF8_chr1_120410035_120474676 | 120436638 | AAG | A | frameshift_variant | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(85): Show |
a0002a0006a0008others(4): Show | a0002c0001a0002c0031a0006c0007others(5): Show | a0002c0001t0002a0002c0001t0008a0002c0001t0015others(22): Show | a0002c0001t0002g0001 a0002c0001t0002g0014 a0002c0001t0002g0015 others(82): Show |
88 | 290 | 0.3034 | -2 | c.122 others(9): Show |
p.Arg others(4): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 4/23 | 1094/7256 | 122/2829 | 41/942 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
NBPF8_chr1_120410035_120474676 | 120440741 | A | G | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(85): Show |
a0002a0006a0008others(4): Show | a0002c0001a0002c0031a0006c0007others(5): Show | a0002c0001t0002a0002c0001t0008a0002c0001t0015others(22): Show | a0002c0001t0002g0001 a0002c0001t0002g0014 a0002c0001t0002g0015 others(82): Show |
88 | 290 | 0.3034 | 0 | c.494 others(5): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 6/22 | chr1 | TogoVar | |||||||
NBPF8_chr1_120410035_120474676 | 120441370 | CCAACCAG others(6345): Show |
C | frameshift_variant others(3): Show |
HIGH | HG00544.hp2 HG00642.hp2 HG01069.hp1 others(67): Show |
a0002a0003a0004others(6): Show | a0002c0001a0003c0006a0004c0003others(6): Show | a0002c0001t0053a0002c0001t0054a0003c0006t0005others(20): Show | a0002c0001t0053g0068 a0002c0001t0054g0065 a0003c0006t0005g0004 others(64): Show |
70 | 290 | 0.2414 | -6352 | c.778 others(12): Show |
p.Val others(5): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 9/23 | 779/2829 | 260/942 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||
NBPF8_chr1_120410035_120474676 | 120466107 | C | G | stop_gained | HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(56): Show |
a0002a0013 | a0002c0001a0002c0031a0013c0025 | a0002c0001t0002a0002c0001t0008a0002c0001t0015others(9): Show | a0002c0001t0002g0001 a0002c0001t0002g0014 a0002c0001t0002g0015 others(54): Show |
59 | 290 | 0.2034 | 0 | c.271 others(4): Show |
p.Tyr others(4): Show |
NBPF8 | ENSG00000270231.5 | transcript | ENST00000698216.1 | protein_coding | 23/23 | 3687/7256 | 2715/2829 | 905/942 | chr1 | TogoVar | |||
NEIL3_chr4_177304874_177367936 | 177341459 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG02135.hp1 HG03688.hp1 HG04228.hp1 others(5): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0016others(1): Show | a0001c0001t0001a0002c0002t0001a0005c0016t0004others(1): Show | a0001c0001t0001g0135 a0002c0002t0001g0361 a0002c0002t0001g0362 others(5): Show |
8 | 365 | 0.0219 | 1 | c.703 others(6): Show |
NEIL3 | ENSG00000109674.4 | transcript | ENST00000264596.4 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
NEK3_chr13_52127647_52164597 | 52143914 | CT | C | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(210): Show |
a0001a0008a0009 | a0001c0001a0008c0012a0009c0010 | a0001c0001t0001a0001c0001t0006a0008c0012t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(97): Show |
213 | 396 | 0.5379 | -1 | c.877 others(4): Show |
p.Thr others(5): Show |
NEK3 | ENSG00000136098.18 | transcript | ENST00000610828.5 | protein_coding | 10/16 | 989/2128 | 877/1521 | 293/506 | chr13 | TogoVar | |||
NFKB2_chr10_102390705_102407524 | 102397259 | GAAAGAAC others(40): Show |
G | splice_acceptor_variant others(3): Show |
HIGH | NA18979.hp1 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0037 | 1 | 422 | 0.0024 | -47 | c.396 others(57): Show |
p.Gln others(19): Show |
NFKB2 | ENSG00000077150.21 | transcript | ENST00000661543.1 | protein_coding | 7/23 | 396/2703 | 132/900 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||
NPIPB11_chr16_29376310_29411711 | 29382144 | G | GAACCCAC others(6): Show |
frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(142): Show |
a0002a0003a0011others(15): Show | a0002c0002a0002c0041a0002c0065others(24): Show | a0002c0002t0001a0002c0002t0005a0002c0002t0009others(36): Show | a0002c0002t0001g0077 a0002c0002t0001g0132 a0002c0002t0001g0133 others(140): Show |
145 | 426 | 0.3404 | 13 | c.278 others(22): Show |
p.Pro others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5534/6369 | 2787/3486 | 929/1161 | chr16 | TogoVar | |||
NPIPB11_chr16_29376310_29411711 | 29382270 | GAACCCAC others(6): Show |
G | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(146): Show |
a0002a0003a0011others(19): Show | a0002c0002a0002c0041a0002c0065others(28): Show | a0002c0002t0001a0002c0002t0005a0002c0002t0009others(40): Show | a0002c0002t0001g0077 a0002c0002t0001g0132 a0002c0002t0001g0133 others(144): Show |
149 | 426 | 0.3498 | -13 | c.264 others(22): Show |
p.Glu others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 5408/6369 | 2649/3486 | 883/1161 | chr16 | TogoVar | |||
NPIPB11_chr16_29376310_29411711 | 29383167 | A | AC | frameshift_variant | HIGH | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(71): Show |
a0002a0003a0005others(10): Show | a0002c0002a0002c0041a0003c0019others(13): Show | a0002c0002t0001a0002c0002t0005a0002c0002t0009others(18): Show | a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 others(71): Show |
74 | 414 | 0.1787 | 1 | c.176 others(5): Show |
p.Phe others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4511/6369 | 1764/3486 | 588/1161 | chr16 | TogoVar | |||
NPIPB11_chr16_29376310_29411711 | 29383290 | GC | G | frameshift_variant | HIGH | HG00408.hp2 HG00558.hp2 HG00673.hp1 others(69): Show |
a0002a0003a0011others(9): Show | a0002c0002a0002c0041a0003c0019others(12): Show | a0002c0002t0001a0002c0002t0005a0002c0002t0009others(17): Show | a0002c0002t0001g0132 a0002c0002t0001g0133 a0002c0002t0001g0134 others(69): Show |
72 | 424 | 0.1698 | -1 | c.164 others(5): Show |
p.Pro others(5): Show |
NPIPB11 | ENSG00000254206.6 | transcript | ENST00000698511.1 | protein_coding | 8/8 | 4388/6369 | 1641/3486 | 547/1161 | 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 | |||
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 | |||||||
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 | |||
OR10X1_chr1_158573919_158584899 | 158579702 | C | T | stop_gained | HIGH | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(209): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(1): Show | a0001c0001t0001g0000 a0001c0004t0001g0000 a0001c0006t0001g0000 others(1): Show |
212 | 428 | 0.4953 | 0 | c.198 others(3): Show |
p.Trp others(3): Show |
OR10X1 | ENSG00000279111.2 | transcript | ENST00000623167.1 | protein_coding | 1/1 | 198/981 | 198/981 | 66/326 | chr1 | TogoVar | |||
OR11G2_chr14_20185896_20206075 | 20198016 | C | CA | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(271): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0015a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(59): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0008 others(101): Show |
274 | 478 | 0.5732 | 1 | c.585 others(4): Show |
p.Gly others(5): Show |
OR11G2 | ENSG00000196832.5 | transcript | ENST00000641879.2 | protein_coding | 2/2 | 1361/4413 | 586/936 | 196/311 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |