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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IGFL3_chr19_46115067_46129688 | 46119477 | ACTGGAGC others(5571): Show |
A | transcript_ablation | HIGH | HG00280.hp1 HG00544.hp1 HG01074.hp1 others(29): Show |
a0000 | a0000c0000 | a0000c0000t0000 | a0000c0000t0000g0000 | 32 | 432 | 0.0741 | -5578 | c.-40 others(9): Show |
p.0? | IGFL3 | ENSG00000188624.3 | transcript | ENST00000341415.3 | protein_coding | 2/4 | chr19 | TogoVar | |||||
IL17RB_chr3_53841568_53870794 | 53865249 | C | T | stop_gained | HIGH | HG00099.hp2 HG00280.hp1 HG00438.hp1 others(51): Show |
a0002 | a0002c0005a0002c0007 | a0002c0005t0001a0002c0007t0001a0002c0007t0006others(1): Show | a0002c0005t0001g0006a0002c0005t0001g0027a0002c0005t0001g0028others(33): Show | 54 | 450 | 0.1200 | 0 | c.145 others(4): Show |
p.Gln others(4): Show |
IL17RB | ENSG00000056736.10 | transcript | ENST00000288167.8 | protein_coding | 11/11 | 1471/2016 | 1450/1509 | 484/502 | chr3 | TogoVar | ||
IQCA1L_chr7_151185873_151210496 | 151204745 | C | CTACCTGC others(4): Show |
frameshift_variant others(1): Show |
HIGH | NA19030.hp1 | a0030 | a0030c0050 | a0030c0050t0001 | a0030c0050t0001g0068 | 1 | 448 | 0.0022 | 11 | c.102 others(18): Show |
p.Glu others(4): Show |
IQCA1L | ENSG00000278685.4 | transcript | ENST00000615129.4 | protein_coding | 2/19 | 144/2606 | 102/2457 | 34/818 | chr7 | TogoVar | ||
IQCA1L_chr7_151185873_151210496 | 151204778 | C | A | stop_gained | HIGH | NA19030.hp1 | a0030 | a0030c0050 | a0030c0050t0001 | a0030c0050t0001g0068 | 1 | 448 | 0.0022 | 0 | c.70G others(2): Show |
p.Glu others(3): Show |
IQCA1L | ENSG00000278685.4 | transcript | ENST00000615129.4 | protein_coding | 2/19 | 112/2606 | 70/2457 | 24/818 | chr7 | TogoVar | ||
IQCA1L_chr7_151185873_151210496 | 151204830 | G | C | stop_gained | HIGH | NA19030.hp1 | a0030 | a0030c0050 | a0030c0050t0001 | a0030c0050t0001g0068 | 1 | 448 | 0.0022 | 0 | c.18C others(2): Show |
p.Tyr others(2): Show |
IQCA1L | ENSG00000278685.4 | transcript | ENST00000615129.4 | protein_coding | 2/19 | 60/2606 | 18/2457 | 6/818 | chr7 | TogoVar | ||
KCNC3_chr19_50306937_50334377 | 50323201 | C | CG | frameshift_variant | HIGH | HG00438.hp1 HG00597.hp2 HG01109.hp1 others(11): Show |
a0002a0014 | a0002c0003a0002c0009a0014c0016 | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(8): Show | a0002c0003t0001g0039a0002c0003t0001g0176a0002c0003t0002g0065others(10): Show | 14 | 380 | 0.0368 | 1 | c.175 others(5): Show |
p.Pro others(5): Show |
KCNC3 | ENSG00000131398.15 | transcript | ENST00000477616.2 | protein_coding | 2/5 | 2046/6747 | 1751/2274 | 584/757 | chr19 | TogoVar | ||
KCTD14_chr11_78010715_78028276 | 78023248 | A | T | start_lost | HIGH | HG01891.hp2 HG02055.hp1 HG02257.hp1 others(23): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0001a0002c0003t0002a0002c0003t0004others(2): Show | a0002c0003t0001g0037a0002c0003t0001g0039a0002c0003t0001g0063others(9): Show | 26 | 468 | 0.0556 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
KCTD14 | ENSG00000151364.17 | transcript | ENST00000353172.6 | protein_coding | 1/2 | 29/1673 | 2/768 | 1/255 | chr11 | TogoVar | ||
KDM4A_chr1_43645149_43710518 | 43660291 | CA | C | splice_acceptor_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp1 HG00408.hp1 others(188): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(169): Show | 191 | 370 | 0.5162 | -1 | c.315 others(6): Show |
KDM4A | ENSG00000066135.13 | transcript | ENST00000372396.4 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
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 | 54824639 | GCACTCCA others(11132): Show |
G | exon_loss_variant | HIGH | NA19030.hp1 | a0000 | a0000c0021 | a0000c0021t0011 | a0000c0021t0011g0074 | 1 | 395 | 0.0025 | -11139 | c.950 others(13): Show |
KIR3DL1 | ENSG00000167633.18 | transcript | ENST00000391728.8 | protein_coding | 6/9 | chr19 | 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 | ||
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 | ||||||
KMT5B_chr11_68149863_68218296 | 68158421 | A | AC | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(12): Show |
a0002 | a0002c0002a0002c0010 | a0002c0002t0001a0002c0002t0002a0002c0002t0013others(1): Show | a0002c0002t0001g0051a0002c0002t0001g0075a0002c0002t0001g0088others(12): Show | 15 | 328 | 0.0457 | 1 | c.192 others(5): Show |
p.Val others(5): Show |
KMT5B | ENSG00000110066.16 | transcript | ENST00000304363.9 | protein_coding | 11/11 | 2159/5718 | 1924/2658 | 642/885 | chr11 | 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 | |||||
KRT35_chr17_41471710_41486151 | 41477128 | G | T | stop_gained | HIGH | NA19030.hp2 | a0008 | a0008c0011 | a0008c0011t0001 | a0008c0011t0001g0025 | 1 | 448 | 0.0022 | 0 | c.129 others(4): Show |
p.Cys others(4): Show |
KRT35 | ENSG00000197079.9 | transcript | ENST00000246639.7 | protein_coding | 7/7 | 1350/1768 | 1296/1368 | 432/455 | chr17 | TogoVar | ||
KRTAP10-4_chr21_44568729_44580371 | 44574964 | A | C | stop_lost | HIGH | HG01081.hp2 HG01243.hp2 HG01256.hp1 others(32): Show |
a0000 | a0000c0011a0000c0012a0000c0014others(16): Show | a0000c0011t0005a0000c0011t0006a0000c0012t0005others(17): Show | a0000c0011t0005g0000a0000c0011t0006g0000a0000c0012t0005g0000others(17): Show | 35 | 476 | 0.0735 | 0 | c.120 others(4): Show |
p.Ter others(11): Show |
KRTAP10-4 | ENSG00000215454.7 | transcript | ENST00000400374.4 | protein_coding | 1/1 | 1236/1643 | 1206/1206 | 402/401 | chr21 | TogoVar | ||
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 | ||
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 | ||
KRTAP4-8_chr17_41091981_41103142 | 41098083 | A | AT | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(233): Show |
a0001a0003a0007others(5): Show | a0001c0001a0003c0003a0003c0010others(6): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(12): Show | a0001c0001t0001g0000a0001c0001t0005g0000a0001c0001t0012g0000others(12): Show | 236 | 416 | 0.5673 | 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 | ||
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 | ||
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 | ||
LIPJ_chr10_88581762_88611976 | 88594666 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG02071.hp1 HG02080.hp1 HG02280.hp2 others(10): Show |
a0001a0008a0010 | a0001c0003a0008c0013a0010c0012 | a0001c0003t0002a0008c0013t0002a0010c0012t0002 | a0001c0003t0002g0015a0001c0003t0002g0036a0001c0003t0002g0040others(6): Show | 13 | 410 | 0.0317 | 0 | c.330 others(5): Show |
LIPJ | ENSG00000204022.9 | transcript | ENST00000371939.7 | protein_coding | 5/10 | chr10 | 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 | ||
LMTK3_chr19_48480271_48516835 | 48498893 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(49): Show |
a0000a0002a0003others(1): Show | a0000c0004a0000c0029a0000c0030others(9): Show | a0000c0004t0001a0000c0004t0006a0000c0029t0001others(11): Show | a0000c0004t0001g0039a0000c0004t0001g0050a0000c0004t0001g0106others(48): Show | 52 | 314 | 0.1656 | 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 | ||
LOC101059915_chrX_71662546_71676527 | 71668071 | A | AC | frameshift_variant | HIGH | HG01175.hp1 HG01175.hp2 NA18994.hp1 others(1): Show |
a0004 | a0004c0005a0004c0013 | a0004c0005t0001a0004c0013t0001 | a0004c0005t0001g0001a0004c0013t0001g0019 | 4 | 340 | 0.0118 | 1 | c.272 others(4): Show |
p.Val others(4): Show |
LOC101059915 | ENSG00000283599.3 | transcript | ENST00000636096.3 | protein_coding | 1/6 | 531/1990 | 273/1557 | 91/518 | INFO_REALIGN_3_PRIME | chrX | 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 | |
LOC400499_chr16_11367015_11532247 | 11401370 | C | A | stop_gained | HIGH | NA19030.hp1 | a0155 | a0155c0192 | a0155c0192t0007 | a0155c0192t0007g0026 | 1 | 310 | 0.0032 | 0 | c.741 others(4): Show |
p.Glu others(5): Show |
LOC400499 | ENSG00000188897.10 | transcript | ENST00000696174.1 | protein_coding | 50/67 | 7486/10754 | 7414/9963 | 2472/3320 | chr16 | 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 | |||||
MAGEB16_chrX_35793342_35808772 | 35803010 | C | T | stop_gained | HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(185): Show |
a0001a0003a0004 | a0001c0001a0003c0003a0004c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(22): Show | 188 | 288 | 0.6528 | 0 | c.814 others(3): Show |
p.Arg others(4): Show |
MAGEB16 | ENSG00000189023.11 | transcript | ENST00000399988.6 | protein_coding | 2/2 | 957/1719 | 814/975 | 272/324 | chrX | TogoVar | ||
MAGIX_chrX_49157758_49173774 | 49163846 | G | GC | frameshift_variant | HIGH | NA19030.hp2 | a0011 | a0011c0008 | a0011c0008t0008 | a0011c0008t0008g0008 | 1 | 260 | 0.0039 | 1 | c.118 others(4): Show |
p.Leu others(4): Show |
MAGIX | ENSG00000269313.6 | transcript | ENST00000595224.6 | protein_coding | 2/6 | 251/3512 | 119/1005 | 40/334 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MDP1_chr14_24208943_24221066 | 24214060 | CA | C | frameshift_variant | HIGH | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(92): Show |
a0002a0004 | a0002c0002a0002c0004a0004c0005 | a0002c0002t0001a0002c0002t0002a0002c0004t0001others(1): Show | a0002c0002t0001g0004a0002c0002t0001g0006a0002c0002t0001g0009others(11): Show | 95 | 404 | 0.2352 | -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 | ||
MEI1_chr22_41694503_41804454 | 41699535 | G | GGA | frameshift_variant others(1): Show |
HIGH | HG01884.hp1 HG02280.hp1 HG02559.hp1 others(22): Show |
a0001a0009 | a0001c0004a0001c0008a0001c0011others(2): Show | a0001c0004t0003a0001c0004t0006a0001c0008t0003others(3): Show | a0001c0004t0003g0039a0001c0004t0003g0040a0001c0004t0003g0041others(22): Show | 25 | 260 | 0.0962 | 2 | c.-1_ others(6): Show |
p.Met others(3): Show |
MEI1 | ENSG00000167077.13 | transcript | ENST00000401548.8 | protein_coding | 1/31 | 38/4016 | 2/3825 | 1/1274 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
MICA_chr6_31398595_31420315 | 31412224 | TG | T | splice_donor_variant others(1): Show |
HIGH | HG00140.hp2 HG01169.hp2 HG02080.hp2 others(9): Show |
a0000 | a0000c0011a0000c0013 | a0000c0011t0003a0000c0013t0003 | a0000c0011t0003g0013a0000c0013t0003g0024a0000c0013t0003g0112 | 12 | 439 | 0.0273 | -1 | c.892 others(6): Show |
MICA | ENSG00000204520.14 | transcript | ENST00000449934.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
MICA_chr6_31398595_31420315 | 31412384 | G | GCTGCTGC others(4): Show |
frameshift_variant | HIGH | HG00140.hp2 HG00642.hp1 HG00741.hp1 others(83): Show |
a0000 | a0000c0001a0000c0011a0000c0013others(3): Show | a0000c0001t0002a0000c0001t0003a0000c0011t0003others(4): Show | a0000c0001t0002g0029a0000c0001t0003g0006a0000c0001t0003g0009others(21): Show | 86 | 439 | 0.1959 | 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 | ||
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 | |||||
MROH6_chr8_143561192_143577772 | 143567371 | G | GC | frameshift_variant | HIGH | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(34): Show |
a0000 | a0000c0004a0000c0007a0000c0020others(6): Show | a0000c0004t0003a0000c0004t0012a0000c0004t0026others(8): Show | a0000c0004t0003g0016a0000c0004t0003g0017a0000c0004t0003g0042others(19): Show | 37 | 437 | 0.0847 | 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 | 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 | ||
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 | ||
MS4A4E_chr11_60195270_60248137 | 60201743 | C | CG | frameshift_variant | HIGH | HG00738.hp1 HG02055.hp1 HG03927.hp2 others(4): Show |
a0007a0008a0011others(1): Show | a0007c0009a0008c0016a0008c0017others(2): Show | a0007c0009t0003a0008c0016t0002a0008c0017t0012others(2): Show | a0007c0009t0003g0210a0007c0009t0003g0234a0007c0009t0003g0241others(4): Show | 7 | 410 | 0.0171 | 1 | c.795 others(4): Show |
p.Val others(5): Show |
MS4A4E | ENSG00000214787.11 | transcript | ENST00000651255.1 | protein_coding | 9/9 | 991/2465 | 795/996 | 265/331 | chr11 | TogoVar | ||
MSLN_chr16_755734_773862 | 765214 | A | AC | frameshift_variant | HIGH | HG01109.hp2 HG01123.hp2 HG01175.hp2 others(5): Show |
a0009a0018a0028 | a0009c0011a0009c0031a0018c0027others(1): Show | a0009c0011t0001a0009c0031t0002a0018c0027t0003others(1): Show | a0009c0011t0001g0005a0009c0011t0001g0101a0009c0011t0001g0184others(5): Show | 8 | 388 | 0.0206 | 1 | c.619 others(4): Show |
p.Arg others(5): Show |
MSLN | ENSG00000102854.16 | transcript | ENST00000545450.7 | protein_coding | 9/18 | 819/2197 | 620/1869 | 207/622 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
MYO15B_chr17_75582800_75631849 | 75588737 | C | CG | frameshift_variant | HIGH | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(39): Show |
a0003a0015a0050others(1): Show | a0003c0008a0003c0024a0003c0025others(28): Show | a0003c0008t0002a0003c0024t0002a0003c0025t0002others(28): Show | a0003c0008t0002g0045a0003c0008t0002g0063a0003c0008t0002g0066others(37): Show | 42 | 384 | 0.1094 | 1 | c.684 others(4): Show |
p.Pro others(5): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 1/64 | 943/9914 | 685/9291 | 229/3096 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
MYO15B_chr17_75582800_75631849 | 75589275 | G | A | stop_gained | HIGH | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(34): Show |
a0003a0050 | a0003c0008a0003c0024a0003c0025others(24): Show | a0003c0008t0002a0003c0024t0002a0003c0025t0002others(24): Show | a0003c0008t0002g0045a0003c0008t0002g0063a0003c0008t0002g0066others(33): Show | 37 | 384 | 0.0964 | 0 | c.121 others(4): Show |
p.Trp others(4): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 1/64 | 1476/9914 | 1218/9291 | 406/3096 | chr17 | TogoVar | ||
MYO15B_chr17_75582800_75631849 | 75596487 | CTG | C | frameshift_variant | HIGH | HG00738.hp1 HG01070.hp2 HG01109.hp1 others(20): Show |
a0003a0009a0015others(7): Show | a0003c0039a0003c0057a0003c0062others(17): Show | a0003c0039t0002a0003c0057t0002a0003c0062t0002others(17): Show | a0003c0039t0002g0072a0003c0039t0002g0073a0003c0057t0002g0046others(19): Show | 23 | 384 | 0.0599 | -2 | c.332 others(11): Show |
p.Cys others(6): Show |
MYO15B | ENSG00000266714.11 | transcript | ENST00000645453.3 | protein_coding | 13/64 | 3586/9914 | 3328/9291 | 1110/3096 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |
MYO7A_chr11_77123246_77220241 | 77179796 | A | AC | frameshift_variant | HIGH | HG00639.hp1 HG00735.hp2 HG01106.hp2 others(51): Show |
a0005a0008a0015others(1): Show | a0005c0008a0005c0017a0005c0026others(35): Show | a0005c0008t0001a0005c0017t0001a0005c0026t0001others(35): Show | a0005c0008t0001g0006a0005c0008t0001g0031a0005c0008t0001g0050others(51): Show | 54 | 356 | 0.1517 | 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 | |
NBPF10_chr1_146059711_146149804 | 146126409 | G | C | splice_acceptor_variant others(1): Show |
HIGH | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(155): Show |
a0002a0003a0005others(116): Show | a0002c0002a0003c0003a0005c0072others(126): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0021others(129): Show | a0002c0002t0001g0001a0002c0002t0001g0064a0002c0002t0001g0065others(150): Show | 158 | 283 | 0.5583 | 0 | c.185 others(6): Show |
NBPF10 | ENSG00000271425.9 | transcript | ENST00000583866.9 | protein_coding | 13/89 | chr1 | TogoVar |