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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KIF25_chr6_167992671_168050091 | 168029510 | C | CTGACATG others(69): Show |
frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(332): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0003a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(66): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(323): Show | 335 | 375 | 0.8933 | 76 | c.7_8 others(80): Show |
p.Lys others(4): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 6/13 | 1881/3048 | 83/1155 | 28/384 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
KIR3DL1_chr19_54811468_54835778 | 54829458 | C | CA | splice_donor_variant others(1): Show |
HIGH | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0002a0002c0038a0026c0037 | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(2): Show | a0002c0002t0002g0002a0002c0002t0002g0020a0002c0002t0002g0028others(24): Show | 62 | 395 | 0.1570 | 1 | c.110 others(5): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
KIR3DL1_chr19_54811468_54835778 | 54829965 | AAC | A | frameshift_variant | HIGH | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0002a0002c0038a0026c0037 | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(2): Show | a0002c0002t0002g0002a0002c0002t0002g0020a0002c0002t0002g0028others(24): Show | 62 | 395 | 0.1570 | -2 | c.114 others(11): Show |
p.Thr others(5): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 8/9 | 1178/1871 | 1145/1335 | 382/444 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
KIR3DL1_chr19_54811468_54835778 | 54830138 | C | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp1 HG00544.hp1 others(59): Show |
a0002a0026 | a0002c0002a0002c0038a0026c0037 | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(2): Show | a0002c0002t0002g0002a0002c0002t0002g0020a0002c0002t0002g0028others(24): Show | 62 | 395 | 0.1570 | 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 | a0002c0002a0002c0038a0026c0037 | a0002c0002t0002a0002c0002t0012a0002c0002t0013others(2): Show | a0002c0002t0002g0002a0002c0002t0002g0020a0002c0002t0002g0028others(24): Show | 62 | 395 | 0.1570 | 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 | ||
KLHL35_chr11_75417394_75438203 | 75430623 | G | A | stop_gained | HIGH | HG01168.hp2 HG01169.hp2 |
a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0030 | 2 | 420 | 0.0048 | 0 | c.7C> others(1): Show |
p.Gln others(2): Show |
KLHL35 | ENSG00000149243.17 | transcript | ENST00000539798.3 | protein_coding | 2/7 | 169/2100 | 7/1752 | 3/583 | chr11 | TogoVar | ||
KLK12_chr19_51024094_51040002 | 51031874 | A | G | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(248): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(97): Show | 251 | 448 | 0.5603 | 0 | c.457 others(5): Show |
KLK12 | ENSG00000186474.16 | transcript | ENST00000684732.1 | protein_coding | 4/5 | chr19 | TogoVar | ||||||
KRBA1_chr7_149709951_149739575 | 149723729 | C | CT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(279): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0009a0001c0025others(24): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(137): Show | 282 | 414 | 0.6812 | 1 | c.875 others(6): Show |
KRBA1 | ENSG00000133619.18 | transcript | ENST00000496259.6 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
KRT3_chr12_52784685_52801117 | 52790835 | T | TA | splice_donor_variant others(1): Show |
HIGH | HG00323.hp1 HG00642.hp1 HG00733.hp2 others(11): Show |
a0002a0003a0005 | a0002c0002a0003c0005a0005c0007 | a0002c0002t0001a0003c0005t0001a0005c0007t0001 | a0002c0002t0001g0006a0002c0002t0001g0042a0003c0005t0001g0068others(1): Show | 14 | 454 | 0.0308 | 1 | c.157 others(7): Show |
KRT3 | ENSG00000186442.7 | transcript | ENST00000417996.2 | protein_coding | 8/8 | chr12 | TogoVar | ||||||
KRTAP10-6_chr21_44586268_44597505 | 44591702 | G | T | stop_gained | HIGH | HG00099.hp1 HG00280.hp2 HG00408.hp2 others(113): Show |
a0002a0006a0012others(13): Show | a0002c0002a0002c0005a0002c0025others(20): Show | a0002c0002t0002a0002c0005t0002a0002c0025t0002others(22): Show | a0002c0002t0002g0000a0002c0005t0002g0000a0002c0025t0002g0000others(22): Show | 116 | 428 | 0.2710 | 0 | c.783 others(3): Show |
p.Cys others(4): Show |
KRTAP10-6 | ENSG00000188155.11 | transcript | ENST00000400368.1 | protein_coding | 1/1 | 804/1238 | 783/1098 | 261/365 | chr21 | TogoVar | ||
KRTAP13-2_chr21_30366390_30377271 | 30371809 | A | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(118): Show |
a0002a0007a0008others(1): Show | a0002c0002a0007c0007a0008c0008others(1): Show | a0002c0002t0001a0007c0007t0001a0008c0008t0001others(1): Show | a0002c0002t0001g0000a0007c0007t0001g0000a0008c0008t0001g0000others(1): Show | 121 | 462 | 0.2619 | 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 | ||
KRTAP2-2_chr17_41049498_41060230 | 41054887 | C | CGCAGGGG others(98): Show |
stop_gained others(1): Show |
HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(144): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0001a0001c0002t0005a0001c0002t0013others(2): Show | a0001c0002t0001g0000a0001c0002t0005g0000a0001c0002t0013g0000others(2): Show | 147 | 411 | 0.3577 | 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 | ||
LAIR2_chr19_54497831_54515687 | 54508046 | C | T | stop_gained | HIGH | HG00642.hp1 HG01069.hp2 HG01070.hp2 others(8): Show |
a0004 | a0004c0004 | a0004c0004t0001a0004c0004t0003 | a0004c0004t0001g0009a0004c0004t0001g0061a0004c0004t0003g0009others(2): Show | 11 | 475 | 0.0232 | 0 | c.226 others(3): Show |
p.Arg others(3): Show |
LAIR2 | ENSG00000167618.10 | transcript | ENST00000301202.7 | protein_coding | 3/5 | 314/665 | 226/459 | 76/152 | chr19 | 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 | ||
LILRB3_chr19_54211278_54228007 | 54220736 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0003a0004others(39): Show | a0001c0001a0003c0002a0004c0005others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(65): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0079others(100): Show | 312 | 455 | 0.6857 | 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 |
a0001a0003a0010others(16): Show | a0001c0001a0003c0002a0010c0012others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0079others(56): Show | 196 | 455 | 0.4308 | 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(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 | |
LRRC69_chr8_91097619_91224257 | 91133094 | G | GT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00639.hp1 HG00733.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007 | a0001c0001t0001a0002c0002t0001a0002c0007t0001 | a0001c0001t0001g0312a0002c0002t0001g0060a0002c0002t0001g0062others(8): Show | 11 | 318 | 0.0346 | 1 | c.384 others(6): Show |
LRRC69 | ENSG00000214954.9 | transcript | ENST00000448384.3 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
LRRK1_chr15_100914357_101083257 | 101061162 | C | CACTT | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(88): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0004a0001c0008others(34): Show | a0001c0002t0001a0001c0002t0027a0001c0002t0029others(78): Show | a0001c0002t0001g0199a0001c0002t0001g0243a0001c0002t0001g0253others(88): Show | 91 | 338 | 0.2692 | 4 | c.468 others(17): Show |
LRRK1 | ENSG00000154237.13 | transcript | ENST00000388948.8 | protein_coding | 29/33 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MAGEA9_chrX_149776930_149792737 | 149786980 | AC | A | frameshift_variant | HIGH | HG01168.hp2 | a0006 | a0006c0010 | a0006c0010t0003 | a0006c0010t0003g0029 | 1 | 273 | 0.0037 | -1 | c.772 others(4): Show |
p.Arg others(5): Show |
MAGEA9 | ENSG00000123584.7 | transcript | ENST00000243314.5 | protein_coding | 4/4 | 1059/1814 | 772/948 | 258/315 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEB6_chrX_26187440_26200646 | 26195068 | T | G | stop_lost | HIGH | HG01168.hp2 | a0000 | a0000c0011 | a0000c0011t0001 | a0000c0011t0001g0001 | 1 | 320 | 0.0031 | 0 | c.122 others(4): Show |
p.Ter others(11): Show |
MAGEB6 | ENSG00000176746.6 | transcript | ENST00000379034.1 | protein_coding | 2/2 | 1371/1949 | 1222/1224 | 408/407 | chrX | TogoVar | ||
MAGED2_chrX_54802745_54821015 | 54814694 | TC | T | frameshift_variant | HIGH | HG01168.hp1 | a0004 | a0004c0013 | a0004c0013t0001 | a0004c0013t0001g0001 | 1 | 319 | 0.0031 | -1 | c.131 others(5): Show |
p.Pro others(5): Show |
MAGED2 | ENSG00000102316.17 | transcript | ENST00000375068.6 | protein_coding | 11/13 | 1397/2051 | 1310/1821 | 437/606 | INFO_REALIGN_3_PRIME | 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 | ||
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 | |
MICA_chr6_31398595_31420315 | 31412383 | TG | T | frameshift_variant | HIGH | HG00408.hp1 HG00408.hp2 HG00423.hp2 others(100): Show |
a0000 | a0000c0005a0000c0006a0000c0010others(5): Show | a0000c0005t0001a0000c0006t0001a0000c0010t0001others(5): Show | a0000c0005t0001g0005a0000c0005t0001g0018a0000c0005t0001g0021others(28): Show | 103 | 439 | 0.2346 | -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 | |
MID2_chrX_107820866_107936637 | 107916047 | CA | C | frameshift_variant | HIGH | HG01168.hp2 | a0003 | a0003c0007 | a0003c0007t0002 | a0003c0007t0002g0131 | 1 | 181 | 0.0055 | -1 | c.112 others(5): Show |
p.Asn others(5): Show |
MID2 | ENSG00000080561.14 | transcript | ENST00000262843.11 | protein_coding | 6/10 | 1682/7333 | 1121/2208 | 374/735 | INFO_REALIGN_3_PRIME | chrX | 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 | |||||
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 | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0031others(2): Show | 85 | 432 | 0.1968 | 18 | c.-28 others(27): Show |
MRPL36 | ENSG00000171421.13 | transcript | ENST00000505059.7 | protein_coding | 1/1 | chr5 | TogoVar | ||||||
MS4A12_chr11_60487778_60512430 | 60497529 | C | T | stop_gained | HIGH | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(178): Show |
a0002 | a0002c0002a0002c0004a0002c0005others(2): Show | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(3): Show | a0002c0002t0001g0004a0002c0002t0001g0008a0002c0002t0001g0021others(55): Show | 181 | 432 | 0.4190 | 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 | ||
MSL3_chrX_11753237_11780772 | 11768655 | A | AG | frameshift_variant | HIGH | HG01168.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0094 | 1 | 297 | 0.0034 | 1 | c.125 others(5): Show |
p.Arg others(5): Show |
MSL3 | ENSG00000005302.19 | transcript | ENST00000312196.10 | protein_coding | 10/13 | 1285/2286 | 1258/1566 | 420/521 | INFO_REALIGN_3_PRIME | chrX | 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 | ||||||
MYH11_chr16_15698135_15862028 | 15738564 | C | A | splice_donor_variant others(1): Show |
HIGH | HG01168.hp1 | a0008 | a0008c0039 | a0008c0039t0002 | a0008c0039t0002g0118 | 1 | 297 | 0.0034 | 0 | c.312 others(6): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 24/40 | chr16 | TogoVar | ||||||
MYH11_chr16_15698135_15862028 | 15738574 | C | A | stop_gained | HIGH | HG01168.hp1 | a0008 | a0008c0039 | a0008c0039t0002 | a0008c0039t0002g0118 | 1 | 297 | 0.0034 | 0 | c.311 others(4): Show |
p.Glu others(5): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 24/41 | 3217/6880 | 3112/5919 | 1038/1972 | chr16 | TogoVar | ||
MYH11_chr16_15698135_15862028 | 15738689 | C | A | splice_acceptor_variant others(1): Show |
HIGH | HG01168.hp1 | a0008 | a0008c0039 | a0008c0039t0002 | a0008c0039t0002g0118 | 1 | 297 | 0.0034 | 0 | c.299 others(6): Show |
MYH11 | ENSG00000133392.18 | transcript | ENST00000300036.6 | protein_coding | 23/40 | chr16 | TogoVar | ||||||
MYORG_chr9_34361666_34381898 | 34372875 | G | C | stop_gained | HIGH | HG00099.hp1 HG00323.hp2 HG00609.hp1 others(56): Show |
a0004a0006 | a0004c0004a0004c0005a0004c0015others(1): Show | a0004c0004t0003a0004c0004t0018a0004c0004t0037others(4): Show | a0004c0004t0003g0005a0004c0004t0003g0021a0004c0004t0003g0034others(10): Show | 59 | 452 | 0.1305 | 0 | c.69C others(2): Show |
p.Tyr others(3): Show |
MYORG | ENSG00000164976.9 | transcript | ENST00000297625.8 | protein_coding | 2/2 | 238/6447 | 69/2145 | 23/714 | chr9 | TogoVar | ||
NACA2_chr17_61585421_61596219 | 61590592 | G | A | stop_gained | HIGH | HG00140.hp2 HG00408.hp2 HG00642.hp2 others(51): Show |
a0002a0007 | a0002c0002a0007c0007 | a0002c0002t0001a0007c0007t0001 | a0002c0002t0001g0000a0007c0007t0001g0000 | 54 | 400 | 0.1350 | 0 | c.589 others(3): Show |
p.Arg others(4): Show |
NACA2 | ENSG00000253506.3 | transcript | ENST00000521764.3 | protein_coding | 1/1 | 628/799 | 589/648 | 197/215 | chr17 | TogoVar | ||
NBPF14_chr1_148526385_148601011 | 148547413 | T | TACTACCT others(23533): Show |
frameshift_variant others(1): Show |
HIGH | HG01168.hp2 HG01169.hp2 |
a0034 | a0034c0025 | a0034c0025t0001 | a0034c0025t0001g0001 | 2 | 222 | 0.0090 | 23540 | c.649 others(23549): Show |
p.Glu others(6): Show |
NBPF14 | ENSG00000270629.7 | transcript | ENST00000619423.4 | protein_coding | 53/71 | 6689/10779 | 6497/8967 | 2166/2988 | chr1 | TogoVar | ||
NBPF19_chr1_149470045_149561361 | 149521269 | CGGTTTCT others(4744): Show |
C | exon_loss_variant | HIGH | HG01168.hp1 HG01496.hp2 NA18982.hp1 others(2): Show |
a0026a0113a0201others(1): Show | a0026c0030a0113c0134a0201c0063others(1): Show | a0026c0030t0001a0113c0134t0001a0201c0063t0002others(1): Show | a0026c0030t0001g0030a0026c0030t0001g0035a0113c0134t0001g0065others(2): Show | 5 | 276 | 0.0181 | -4751 | c.633 others(17): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 53/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NBPF19_chr1_149470045_149561361 | 149544596 | ACGTACCA others(4730): Show |
A | exon_loss_variant | HIGH | HG00609.hp2 HG00738.hp2 HG01069.hp1 others(35): Show |
a0005a0010a0021others(26): Show | a0005c0004a0010c0007a0021c0022others(26): Show | a0005c0004t0001a0005c0004t0025a0010c0007t0001others(27): Show | a0005c0004t0001g0056a0005c0004t0001g0131a0005c0004t0001g0132others(34): Show | 38 | 276 | 0.1377 | -4737 | c.999 others(16): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 83/94 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
NEK3_chr13_52127647_52164597 | 52143914 | CT | C | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00408.hp1 HG00438.hp2 others(211): Show |
a0001a0006a0010 | a0001c0001a0006c0012a0010c0010 | a0001c0001t0001a0001c0001t0006a0006c0012t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(99): Show | 214 | 398 | 0.5377 | -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 | ||
NIBAN3_chr19_17522267_17558640 | 17527396 | G | C | splice_donor_variant others(1): Show |
HIGH | HG01168.hp2 HG01169.hp2 |
a0005 | a0005c0006 | a0005c0006t0006 | a0005c0006t0006g0037a0005c0006t0006g0038 | 2 | 404 | 0.0050 | 0 | c.55+ others(4): Show |
NIBAN3 | ENSG00000167483.19 | transcript | ENST00000599164.6 | protein_coding | 1/14 | chr19 | TogoVar | ||||||
NOMO3_chr16_16227528_16299811 | 16263645 | G | A | splice_donor_variant others(1): Show |
HIGH | HG01099.hp1 HG01168.hp2 HG01257.hp1 others(3): Show |
a0003a0007a0009 | a0003c0004a0007c0012a0009c0013 | a0003c0004t0002a0007c0012t0005a0009c0013t0001 | a0003c0004t0002g0126a0003c0004t0002g0127a0003c0004t0002g0128others(3): Show | 6 | 132 | 0.0455 | 0 | c.166 others(6): Show |
NOMO3 | ENSG00000103226.19 | transcript | ENST00000399336.9 | protein_coding | 14/30 | chr16 | TogoVar | ||||||
NPIPB2_chr16_11922373_11947045 | 11933617 | CAT | C | frameshift_variant | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(394): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0003a0001c0004others(34): Show | a0001c0001t0000a0001c0003t0000a0001c0004t0000others(34): Show | a0001c0001t0000g0001a0001c0001t0000g0002a0001c0001t0000g0006others(328): Show | 397 | 414 | 0.9589 | -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 | ||
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 | |||||
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 | |
OAS1_chr12_112901962_112924903 | 112919388 | G | A | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(304): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0010others(5): Show | a0001c0001t0001a0001c0004t0001a0001c0010t0001others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0004others(80): Show | 307 | 436 | 0.7041 | 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(235): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0011a0003c0003others(4): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0008others(32): Show | a0002c0002t0001g0001a0002c0002t0001g0009a0002c0002t0001g0023others(45): Show | 238 | 436 | 0.5459 | 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 | a0001c0001t0000a0001c0004t0000a0001c0006t0000others(1): Show | a0001c0001t0000g0000a0001c0004t0000g0000a0001c0006t0000g0000others(1): Show | 212 | 430 | 0.4930 | 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 |