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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KRTAP19-6_chr21_30536535_30546864 | 30541662 | AG | A | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(301): Show |
a0000 | a0000c0001a0000c0003a0000c0004others(2): Show | a0000c0001t0001a0000c0003t0001a0000c0004t0001others(2): Show | a0000c0001t0001g0000a0000c0003t0001g0000a0000c0004t0001g0000others(2): Show | 304 | 394 | 0.7716 | -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 | ||
KRTAP5-5_chr11_1624775_1635930 | 1630188 | GGGGGGCT others(22): Show |
G | frameshift_variant | HIGH | NA19055.hp2 | a0019 | a0019c0027 | a0019c0027t0001 | a0019c0027t0001g0000 | 1 | 445 | 0.0023 | -29 | c.354 others(36): Show |
p.Cys others(5): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 420/1156 | 354/714 | 118/237 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
KRTAP5-5_chr11_1624775_1635930 | 1630391 | GCCAGTCC others(22): Show |
G | frameshift_variant | HIGH | NA19055.hp2 | a0019 | a0019c0027 | a0019c0027t0001 | a0019c0027t0001g0000 | 1 | 445 | 0.0023 | -29 | c.552 others(36): Show |
p.Cys others(5): Show |
KRTAP5-5 | ENSG00000185940.11 | transcript | ENST00000399676.4 | protein_coding | 1/1 | 618/1156 | 552/714 | 184/237 | chr11 | TogoVar | ||
LAS1L_chrX_65507582_65539787 | 65518291 | TG | T | frameshift_variant | HIGH | NA19055.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0075 | 1 | 203 | 0.0049 | -1 | c.162 others(5): Show |
p.Pro others(5): Show |
LAS1L | ENSG00000001497.18 | transcript | ENST00000374811.8 | protein_coding | 12/14 | 1694/2470 | 1622/2205 | 541/734 | chrX | 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 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(161): Show | 251 | 433 | 0.5797 | 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(189): Show |
a0002a0003a0004others(34): Show | a0002c0002a0002c0027a0002c0028others(40): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0007others(71): Show | a0002c0002t0003g0002a0002c0002t0003g0043a0002c0002t0003g0140others(97): Show | 192 | 450 | 0.4267 | 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 | ||
LMTK3_chr19_48480271_48516835 | 48498801 | C | CG | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(204): Show |
a0000a0002a0003 | a0000c0001a0000c0005a0000c0006others(19): Show | a0000c0001t0001a0000c0001t0002a0000c0001t0004others(24): Show | a0000c0001t0001g0002a0000c0001t0001g0003a0000c0001t0001g0004others(180): Show | 207 | 314 | 0.6592 | 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 | ||
LOC102725191_chr7_12499441_12546270 | 12523234 | G | GA | frameshift_variant | HIGH | HG00099.hp2 HG00408.hp1 HG00423.hp2 others(120): Show |
a0001 | a0001c0001a0001c0007a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0004a0001c0001t0001g0010a0001c0001t0001g0011others(95): Show | 123 | 422 | 0.2915 | 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 | |
LOC127898563_chr6_68630890_68640967 | 68635891 | T | G | start_lost | HIGH | NA19055.hp1 | a0000 | a0000c0002 | a0000c0002t0000 | a0000c0002t0000g0000 | 1 | 398 | 0.0025 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
LOC127898563 | ENSG00000288712.1 | transcript | ENST00000683102.1 | protein_coding | 1/1 | 2/78 | 2/78 | 1/25 | chr6 | TogoVar | ||
LRWD1_chr7_102459984_102478168 | 102466052 | G | A | splice_donor_variant others(1): Show |
HIGH | NA19055.hp2 | a0008 | a0008c0029 | a0008c0029t0002 | a0008c0029t0002g0107 | 1 | 428 | 0.0023 | 0 | c.315 others(5): Show |
LRWD1 | ENSG00000161036.13 | transcript | ENST00000292616.10 | protein_coding | 2/14 | chr7 | TogoVar | ||||||
LRWD1_chr7_102459984_102478168 | 102466053 | T | C | splice_donor_variant others(1): Show |
HIGH | NA19055.hp2 | a0008 | a0008c0029 | a0008c0029t0002 | a0008c0029t0002g0107 | 1 | 428 | 0.0023 | 0 | c.315 others(5): Show |
LRWD1 | ENSG00000161036.13 | transcript | ENST00000292616.10 | protein_coding | 2/14 | chr7 | TogoVar | ||||||
MAGEA12_chrX_152728757_152742669 | 152733858 | A | AG | splice_donor_variant others(1): Show |
HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.-18 others(7): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
MAGEA12_chrX_152728757_152742669 | 152736181 | G | GC | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.20_ others(6): Show |
p.Gln others(3): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 305/1792 | 21/945 | 7/314 | chrX | TogoVar | ||
MAGEA12_chrX_152728757_152742669 | 152736190 | G | GC | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.30d others(3): Show |
p.Lys others(4): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 315/1792 | 31/945 | 11/314 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEA12_chrX_152728757_152742669 | 152736238 | T | TG | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.80d others(3): Show |
p.Ala others(4): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 365/1792 | 81/945 | 27/314 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEA12_chrX_152728757_152742669 | 152736278 | C | CT | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.118 others(4): Show |
p.Ser others(4): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 403/1792 | 119/945 | 40/314 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEA12_chrX_152728757_152742669 | 152736377 | C | CG | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.216 others(8): Show |
p.Thr others(4): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 501/1792 | 217/945 | 73/314 | chrX | TogoVar | ||
MAGEA12_chrX_152728757_152742669 | 152736454 | T | TG | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.293 others(8): Show |
p.Phe others(4): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 578/1792 | 294/945 | 98/314 | chrX | TogoVar | ||
MAGEA12_chrX_152728757_152742669 | 152736516 | T | TC | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.355 others(8): Show |
p.Phe others(5): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 640/1792 | 356/945 | 119/314 | chrX | TogoVar | ||
MAGEA12_chrX_152728757_152742669 | 152736652 | T | TG | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.491 others(8): Show |
p.Ile others(5): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 776/1792 | 492/945 | 164/314 | chrX | TogoVar | ||
MAGEA12_chrX_152728757_152742669 | 152736677 | C | CG | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.518 others(4): Show |
p.His others(5): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 803/1792 | 519/945 | 173/314 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEA12_chrX_152728757_152742669 | 152736764 | C | CT | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.603 others(8): Show |
p.Leu others(5): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 888/1792 | 604/945 | 202/314 | chrX | TogoVar | ||
MAGEA12_chrX_152728757_152742669 | 152736875 | CT | C | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | -1 | c.717 others(4): Show |
p.Phe others(5): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 1001/1792 | 717/945 | 239/314 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEA12_chrX_152728757_152742669 | 152737025 | C | CT | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.864 others(8): Show |
p.His others(5): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 1149/1792 | 865/945 | 289/314 | chrX | TogoVar | ||
MAGEA12_chrX_152728757_152742669 | 152737079 | A | AC | frameshift_variant | HIGH | NA19055.hp1 | a0005 | a0005c0006 | a0005c0006t0012 | a0005c0006t0012g0037 | 1 | 322 | 0.0031 | 1 | c.918 others(8): Show |
p.Trp others(5): Show |
MAGEA12 | ENSG00000213401.10 | transcript | ENST00000393869.8 | protein_coding | 3/3 | 1203/1792 | 919/945 | 307/314 | chrX | TogoVar | ||
MAGEE2_chrX_75777987_75790254 | 75784694 | C | A | stop_gained | HIGH | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(120): Show |
a0002a0003a0007 | a0002c0002a0002c0003a0002c0010others(3): Show | a0002c0002t0001a0002c0003t0001a0002c0010t0001others(3): Show | a0002c0002t0001g0000a0002c0003t0001g0000a0002c0010t0001g0000others(3): Show | 123 | 277 | 0.4440 | 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 | ||
MCTS2_chr20_31542379_31553081 | 31547569 | TAAGGGCA others(7): Show |
T | frameshift_variant | HIGH | NA19055.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 350 | 0.0029 | -14 | c.67_ others(19): Show |
p.Lys others(4): Show |
MCTS2 | ENSG00000101898.7 | transcript | ENST00000394552.4 | protein_coding | 1/1 | 192/703 | 67/546 | 23/181 | chr20 | TogoVar | ||
MICA_chr6_31398595_31420315 | 31412380 | TGCTG | T | frameshift_variant | HIGH | HG00280.hp2 HG00323.hp1 HG00438.hp2 others(43): Show |
a0000 | a0000c0008a0000c0009a0000c0012others(2): Show | a0000c0008t0004a0000c0009t0005a0000c0012t0004others(2): Show | a0000c0008t0004g0008a0000c0008t0004g0067a0000c0008t0004g0068others(21): Show | 46 | 439 | 0.1048 | -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 | |
MON2_chr12_62461826_62605476 | 62578430 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(145): Show |
a0001a0002a0007others(3): Show | a0001c0002a0001c0006a0001c0009others(7): Show | a0001c0002t0031a0001c0006t0003a0001c0006t0007others(20): Show | a0001c0002t0031g0136a0001c0006t0003g0005a0001c0006t0003g0006others(143): Show | 148 | 368 | 0.4022 | 1 | c.451 others(7): Show |
MON2 | ENSG00000061987.16 | transcript | ENST00000393630.8 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
MRPS34_chr16_1766895_1778134 | 1772796 | C | CACCT | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(166): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0003a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0015a0001c0001t0004g0012others(6): Show | 169 | 436 | 0.3876 | 4 | c.320 others(13): Show |
MRPS34 | ENSG00000074071.15 | transcript | ENST00000397375.7 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
MS4A14_chr11_60391459_60422756 | 60397879 | ATT | A | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(249): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(87): Show | 252 | 428 | 0.5888 | -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 | ||
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 | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0002g0002others(4): Show | 128 | 470 | 0.2723 | 0 | c.29- others(4): Show |
MT1G | ENSG00000125144.14 | transcript | ENST00000379811.4 | protein_coding | 1/2 | chr16 | TogoVar | ||||||
MUC20_chr3_195715978_195738551 | 195730377 | GCTCTGTC others(8167): Show |
G | exon_loss_variant others(5): Show |
HIGH | HG00544.hp1 HG00609.hp1 HG00673.hp2 others(28): Show |
a0000 | a0000c0002a0000c0008a0000c0013others(7): Show | a0000c0002t0003a0000c0008t0003a0000c0013t0003others(7): Show | a0000c0002t0003g0001a0000c0002t0003g0025a0000c0002t0003g0028others(15): Show | 31 | 185 | 0.1676 | -8174 | c.206 others(14): Show |
MUC20 | ENSG00000176945.18 | transcript | ENST00000447234.7 | protein_coding | 4/4 | chr3 | TogoVar | ||||||
MUC22_chr6_31005474_31040402 | 31027337 | AC | A | frameshift_variant | HIGH | HG00597.hp2 HG00609.hp2 HG00673.hp1 others(38): Show |
a0006a0011a0022others(8): Show | a0006c0005a0006c0024a0006c0093others(12): Show | a0006c0005t0001a0006c0024t0001a0006c0093t0001others(12): Show | a0006c0005t0001g0001a0006c0005t0001g0124a0006c0005t0001g0213others(17): Show | 41 | 461 | 0.0889 | -1 | c.190 others(5): Show |
p.Thr others(5): Show |
MUC22 | ENSG00000261272.1 | transcript | ENST00000561890.1 | protein_coding | 2/4 | 2141/6019 | 1908/5322 | 636/1773 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2298): Show |
frameshift_variant others(1): Show |
HIGH | NA19055.hp2 | a0106 | a0106c0040 | a0106c0040t0001 | a0106c0040t0001g0160 | 1 | 249 | 0.0040 | 2305 | c.390 others(2314): Show |
p.Ser others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | ||
MYO1F_chr19_8515778_8582442 | 8526565 | A | AC | frameshift_variant | HIGH | HG00735.hp2 NA18972.hp1 NA18990.hp1 others(2): Show |
a0003 | a0003c0004 | a0003c0004t0002a0003c0004t0003a0003c0004t0006 | a0003c0004t0002g0095a0003c0004t0002g0222a0003c0004t0003g0023others(2): Show | 5 | 342 | 0.0146 | 1 | c.265 others(5): Show |
p.Gly others(5): Show |
MYO1F | ENSG00000142347.20 | transcript | ENST00000644032.2 | protein_coding | 24/28 | 2790/4180 | 2657/3297 | 886/1098 | chr19 | TogoVar | ||
NALF2_chrX_69499326_69537508 | 69505828 | CA | C | frameshift_variant | HIGH | NA19055.hp1 | a0011 | a0011c0016 | a0011c0016t0001 | a0011c0016t0001g0124 | 1 | 322 | 0.0031 | -1 | c.554 others(4): Show |
p.Asn others(5): Show |
NALF2 | ENSG00000130054.5 | transcript | ENST00000252338.5 | protein_coding | 1/3 | 1511/4928 | 554/1419 | 185/472 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
NANOS1_chr10_119024714_119038730 | 119029847 | G | GC | frameshift_variant | HIGH | HG00621.hp2 HG01081.hp2 HG01099.hp1 others(25): Show |
a0000 | a0000c0002a0000c0007 | a0000c0002t0001a0000c0002t0002a0000c0002t0004others(3): Show | a0000c0002t0001g0000a0000c0002t0002g0000a0000c0002t0004g0000others(3): Show | 28 | 404 | 0.0693 | 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 | |
NBPF11_chr1_148097151_148157281 | 148105470 | C | CATCT | frameshift_variant | HIGH | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(153): Show |
a0000a0002 | a0000c0002a0000c0003a0000c0004others(17): Show | a0000c0002t0002a0000c0002t0014a0000c0002t0018others(25): Show | a0000c0002t0002g0001a0000c0002t0002g0007a0000c0002t0002g0008others(145): Show | 156 | 388 | 0.4021 | 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 | ||
NCAPH2_chr22_50503224_50529780 | 50522253 | C | T | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG00280.hp1 HG00408.hp2 others(83): Show |
a0001a0003 | a0001c0001a0001c0006a0001c0017others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0002g0005a0001c0001t0002g0013a0001c0001t0002g0022others(59): Show | 86 | 384 | 0.2240 | 0 | c.123 others(6): Show |
NCAPH2 | ENSG00000025770.19 | transcript | ENST00000420993.7 | protein_coding | 14/19 | chr22 | TogoVar | ||||||
NKAP_chrX_119915672_119948751 | 119932105 | A | AC | splice_donor_variant others(1): Show |
HIGH | NA19055.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0036 | 1 | 320 | 0.0031 | 1 | c.847 others(6): Show |
NKAP | ENSG00000101882.10 | transcript | ENST00000371410.5 | protein_coding | 6/8 | chrX | TogoVar | ||||||
NKAP_chrX_119915672_119948751 | 119943243 | C | CT | frameshift_variant | HIGH | NA19055.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0036 | 1 | 320 | 0.0031 | 1 | c.362 others(4): Show |
p.Arg others(5): Show |
NKAP | ENSG00000101882.10 | transcript | ENST00000371410.5 | protein_coding | 1/9 | 508/5942 | 362/1248 | 121/415 | chrX | TogoVar | ||
NPIPA5_chr16_15358628_15383294 | 15363681 | CGCTGAGG others(64): Show |
C | frameshift_variant | HIGH | HG00099.hp1 HG00438.hp1 HG00438.hp2 others(80): Show |
a0000 | a0000c0002a0000c0024 | a0000c0002t0002a0000c0002t0003a0000c0024t0002 | a0000c0002t0002g0001a0000c0002t0002g0020a0000c0002t0002g0021others(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 | ||
NPIPB11_chr16_29376310_29411711 | 29382144 | G | GAACCCAC others(6): Show |
frameshift_variant | HIGH | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(142): Show |
a0002a0003a0009others(29): Show | a0002c0003a0002c0022a0002c0054others(38): Show | a0002c0003t0001a0002c0003t0005a0002c0003t0009others(48): Show | a0002c0003t0001g0131a0002c0003t0001g0133a0002c0003t0001g0135others(140): Show | 145 | 428 | 0.3388 | 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 |
a0002a0003a0009others(33): Show | a0002c0003a0002c0022a0002c0054others(42): Show | a0002c0003t0001a0002c0003t0005a0002c0003t0009others(52): Show | a0002c0003t0001g0131a0002c0003t0001g0133a0002c0003t0001g0135others(144): Show | 149 | 428 | 0.3481 | -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 |
a0002a0009a0026others(14): Show | a0002c0003a0002c0022a0002c0054others(20): Show | a0002c0003t0001a0002c0003t0005a0002c0003t0009others(25): Show | a0002c0003t0001g0131a0002c0003t0001g0133a0002c0003t0001g0135others(71): Show | 74 | 428 | 0.1729 | 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 |
a0002a0009a0026others(12): Show | a0002c0003a0002c0022a0002c0054others(18): Show | a0002c0003t0001a0002c0003t0005a0002c0003t0009others(23): Show | a0002c0003t0001g0131a0002c0003t0001g0133a0002c0003t0001g0135others(69): Show | 72 | 428 | 0.1682 | -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 | ||
NPRL3_chr16_80386_143673 | 138304 | AGAGGAGG others(25): Show |
A | splice_acceptor_variant others(2): Show |
HIGH | HG00323.hp1 HG00423.hp2 HG00597.hp2 others(132): Show |
a0001a0002a0008 | a0001c0001a0001c0005a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(132): Show | 135 | 350 | 0.3857 | -32 | c.-67 others(41): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 2/14 | 38 | chr16 | TogoVar | |||||
NUDT11_chrX_51485011_51501592 | 51496443 | ATCCTCGA others(7): Show |
A | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(270): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(44): Show | 273 | 274 | 0.9964 | -14 | c.-13 others(19): Show |
p.Met others(3): Show |
NUDT11 | ENSG00000196368.5 | transcript | ENST00000375992.4 | protein_coding | 1/2 | 149/2381 | 1/495 | 1/164 | chrX | TogoVar | ||
NUTM2A_chr10_87220448_87239978 | 87226077 | TC | T | frameshift_variant | HIGH | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(378): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(65): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0020others(74): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(158): Show | 381 | 403 | 0.9454 | -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 |