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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KDM6B_chr17_7829217_7859796 | 7847163 | A | AC | frameshift_variant | HIGH | HG00639.hp2 HG01496.hp2 HG01928.hp2 others(17): Show |
a0006a0011a0021others(2): Show | a0006c0018a0006c0045a0006c0046others(12): Show | a0006c0018t0002a0006c0018t0004a0006c0045t0001others(13): Show | a0006c0018t0002g0007 a0006c0018t0002g0036 a0006c0018t0002g0233 others(17): Show |
20 | 385 | 0.0519 | 1 | c.974 others(4): Show |
p.Gly others(5): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 11/24 | 1496/6728 | 975/4932 | 325/1643 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
KDM6B_chr17_7829217_7859796 | 7847818 | A | AC | frameshift_variant | HIGH | HG00544.hp1 HG00558.hp2 HG00597.hp1 others(26): Show |
a0005a0006a0011others(6): Show | a0005c0014a0005c0019a0005c0049others(17): Show | a0005c0014t0001a0005c0019t0003a0005c0019t0004others(19): Show | a0005c0014t0001g0104 a0005c0014t0001g0278 a0005c0014t0001g0300 others(26): Show |
29 | 386 | 0.0751 | 1 | c.153 others(5): Show |
p.Arg others(5): Show |
KDM6B | ENSG00000132510.11 | transcript | ENST00000448097.7 | protein_coding | 12/24 | 2059/6728 | 1538/4932 | 513/1643 | INFO_REALIGN_3_PRIME | chr17 | 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 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0006 others(323): Show |
335 | 371 | 0.9030 | 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 | ||
KLK6_chr19_50953631_50974591 | 50968592 | C | T | splice_acceptor_variant others(1): Show |
HIGH | HG01070.hp1 HG02055.hp1 HG02258.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0061 others(7): Show |
10 | 314 | 0.0318 | 0 | c.-59 others(5): Show |
KLK6 | ENSG00000167755.15 | transcript | ENST00000310157.7 | protein_coding | 1/6 | chr19 | TogoVar | |||||||
KMT5B_chr11_68149863_68218296 | 68158421 | A | AC | frameshift_variant | HIGH | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(12): Show |
a0002 | a0002c0002a0002c0010 | a0002c0002t0001a0002c0002t0004a0002c0010t0003 | a0002c0002t0001g0052 a0002c0002t0001g0072 a0002c0002t0001g0089 others(12): Show |
15 | 324 | 0.0463 | 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(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 | |||
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 | |||
KRTAP4-5_chr17_41143924_41154825 | 41149311 | G | A | stop_gained | HIGH | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(4): Show |
a0008 | a0008c0008a0008c0012 | a0008c0008t0001a0008c0012t0006 | a0008c0008t0001g0000 a0008c0012t0006g0000 |
7 | 400 | 0.0175 | 0 | c.457 others(3): Show |
p.Arg others(4): Show |
KRTAP4-5 | ENSG00000198271.5 | transcript | ENST00000343246.6 | protein_coding | 1/1 | 515/902 | 457/546 | 153/181 | chr17 | TogoVar | |||
KRTAP4-8_chr17_41091981_41103142 | 41098083 | A | AT | frameshift_variant others(1): Show |
HIGH | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(232): Show |
a0001a0003a0005others(5): Show | a0001c0001a0003c0003a0003c0010others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(11): Show | a0001c0001t0001g0000 a0001c0001t0004g0000 a0001c0001t0011g0000 others(11): Show |
235 | 414 | 0.5676 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
KRTAP4-8 | ENSG00000204880.9 | transcript | ENST00000333822.5 | protein_coding | 1/1 | 59/1162 | 1/558 | 1/185 | chr17 | TogoVar | |||
LAMA5_chr20_62304065_62372312 | 62314926 | AGCGTCTT others(9): Show |
A | frameshift_variant | HIGH | HG02055.hp1 | a0053 | a0053c0066 | a0053c0066t0001 | a0053c0066t0001g0016 | 1 | 184 | 0.0054 | -16 | c.805 others(25): Show |
p.Thr others(6): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 60/80 | 8135/11426 | 8053/11088 | 2685/3695 | chr20 | TogoVar | |||
LCE4A_chr1_152703160_152714434 | 152709084 | C | A | stop_gained | HIGH | HG02055.hp2 HG02451.hp1 HG02886.hp1 others(5): Show |
a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0001 | 8 | 414 | 0.0193 | 0 | c.9C> others(1): Show |
p.Cys others(2): Show |
LCE4A | ENSG00000187170.6 | transcript | ENST00000368777.2 | protein_coding | 2/2 | 265/615 | 9/300 | 3/99 | chr1 | TogoVar | |||
LGALS9B_chr17_20444395_20472539 | 20467469 | A | ATC | frameshift_variant others(1): Show |
HIGH | HG00099.hp1 HG00323.hp2 HG00423.hp1 others(248): Show |
a0001a0002a0004others(11): Show | a0001c0001a0001c0025a0001c0026others(16): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(46): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(160): Show |
251 | 432 | 0.5810 | 2 | c.-1_ others(6): Show |
p.Met others(3): Show |
LGALS9B | ENSG00000170298.16 | transcript | ENST00000423676.8 | protein_coding | 1/11 | 70/1718 | 1/1071 | 1/356 | chr17 | TogoVar | |||
LILRA6_chr19_54231590_54247790 | 54240484 | G | A | stop_gained | HIGH | HG00099.hp1 HG00323.hp1 HG00323.hp2 others(188): Show |
a0002a0003a0004others(33): Show | a0002c0002a0002c0027a0002c0028others(39): Show | a0002c0002t0003a0002c0002t0004a0002c0002t0007others(70): Show | a0002c0002t0003g0002 a0002c0002t0003g0043 a0002c0002t0003g0141 others(95): Show |
191 | 448 | 0.4263 | 0 | c.104 others(4): Show |
p.Gln others(4): Show |
LILRA6 | ENSG00000244482.11 | transcript | ENST00000396365.7 | protein_coding | 6/8 | 1087/3848 | 1048/1446 | 350/481 | chr19 | TogoVar | |||
LILRB3_chr19_54211278_54228007 | 54220736 | A | C | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0019 others(25): Show |
312 | 454 | 0.6872 | 0 | c.105 others(4): Show |
p.Tyr others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 6/13 | 1081/2742 | 1050/1896 | 350/631 | chr19 | TogoVar | |||
LILRB3_chr19_54211278_54228007 | 54221872 | C | T | stop_gained | HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(193): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0002g0019 others(21): Show |
196 | 454 | 0.4317 | 0 | c.614 others(3): Show |
p.Trp others(4): Show |
LILRB3 | ENSG00000204577.12 | transcript | ENST00000445347.2 | protein_coding | 4/13 | 645/2742 | 614/1896 | 205/631 | chr19 | TogoVar | |||
LMTK3_chr19_48480271_48516835 | 48498801 | C | CG | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(203): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0005a0001c0006others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(165): Show |
206 | 308 | 0.6688 | 1 | c.226 others(5): Show |
p.Pro others(5): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/15 | 2526/5144 | 2267/4383 | 756/1460 | chr19 | TogoVar | |||
LMTK3_chr19_48480271_48516835 | 48498893 | C | CG | frameshift_variant | HIGH | HG00408.hp1 HG00423.hp1 HG00544.hp2 others(49): Show |
a0003a0004a0005 | a0003c0003a0003c0015a0003c0016others(9): Show | a0003c0003t0001a0003c0003t0002a0003c0015t0001others(11): Show | a0003c0003t0001g0010 a0003c0003t0001g0011 a0003c0003t0001g0012 others(43): Show |
52 | 312 | 0.1667 | 1 | c.217 others(5): Show |
p.Ala others(5): Show |
LMTK3 | ENSG00000142235.13 | transcript | ENST00000600059.6 | protein_coding | 11/15 | 2434/5144 | 2175/4383 | 725/1460 | chr19 | TogoVar | |||
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 | |||
LOXL4_chr10_98242690_98273194 | 98256880 | A | AC | frameshift_variant | HIGH | HG00597.hp2 HG02055.hp1 HG02970.hp1 others(5): Show |
a0005a0007a0019 | a0005c0007a0007c0017a0007c0018others(2): Show | a0005c0007t0001a0007c0017t0001a0007c0018t0001others(2): Show | a0005c0007t0001g0117 a0005c0007t0001g0134 a0005c0007t0001g0139 others(5): Show |
8 | 436 | 0.0183 | 1 | c.132 others(5): Show |
p.Val others(5): Show |
LOXL4 | ENSG00000138131.4 | transcript | ENST00000260702.4 | protein_coding | 9/15 | 1422/3597 | 1327/2271 | 443/756 | chr10 | TogoVar | |||
LRRIQ1_chr12_85031351_85250105 | 85244867 | GA | G | frameshift_variant | HIGH | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(50): Show |
a0002a0003a0004others(1): Show | a0002c0003a0003c0004a0004c0008others(2): Show | a0002c0003t0001a0003c0004t0001a0004c0008t0001others(2): Show | a0002c0003t0001g0161 a0002c0003t0001g0162 a0002c0003t0001g0163 others(50): Show |
53 | 225 | 0.2356 | -1 | c.510 others(5): Show |
p.Asn others(6): Show |
LRRIQ1 | ENSG00000133640.20 | transcript | ENST00000393217.7 | protein_coding | 27/27 | 5186/5414 | 5105/5169 | 1702/1722 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||
LTBP3_chr11_65533559_65563359 | 65554262 | A | AC | frameshift_variant | HIGH | HG00423.hp1 HG00423.hp2 HG00597.hp2 others(20): Show |
a0003a0011 | a0003c0004a0003c0010a0003c0017others(4): Show | a0003c0004t0001a0003c0010t0001a0003c0017t0001others(4): Show | a0003c0004t0001g0069 a0003c0004t0001g0075 a0003c0004t0001g0076 others(20): Show |
23 | 313 | 0.0735 | 1 | c.449 others(4): Show |
p.Thr others(5): Show |
LTBP3 | ENSG00000168056.18 | transcript | ENST00000301873.11 | protein_coding | 2/28 | 849/4833 | 449/3912 | 150/1303 | chr11 | TogoVar | |||
MAGEB16_chrX_35793342_35808772 | 35803010 | C | T | stop_gained | HIGH | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(184): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(16): Show |
187 | 286 | 0.6538 | 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 | |||
MALT1_chr18_58666465_58759477 | 58696337 | A | AT | splice_acceptor_variant others(1): Show |
HIGH | HG00438.hp1 HG01106.hp1 HG01243.hp1 others(46): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0171 a0001c0001t0001g0174 a0001c0001t0001g0211 others(46): Show |
49 | 335 | 0.1463 | 1 | c.377 others(6): Show |
MALT1 | ENSG00000172175.16 | transcript | ENST00000649217.2 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr18 | 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 | ||||||
MAP1S_chr19_17714480_17739513 | 17726640 | A | AC | frameshift_variant | HIGH | HG00735.hp2 HG00741.hp1 HG01496.hp2 others(8): Show |
a0005 | a0005c0006a0005c0009a0005c0015others(1): Show | a0005c0006t0001a0005c0009t0001a0005c0015t0001others(1): Show | a0005c0006t0001g0001 a0005c0009t0001g0035 a0005c0009t0001g0036 others(3): Show |
11 | 288 | 0.0382 | 1 | c.126 others(5): Show |
p.Ala others(5): Show |
MAP1S | ENSG00000130479.11 | transcript | ENST00000324096.9 | protein_coding | 5/7 | 1284/3288 | 1261/3180 | 421/1059 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
MBOAT7_chr19_54168415_54194580 | 54181115 | C | CG | frameshift_variant | HIGH | HG00673.hp2 HG00741.hp1 HG00741.hp2 others(30): Show |
a0002 | a0002c0003a0002c0004 | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(6): Show | a0002c0003t0001g0018 a0002c0003t0001g0028 a0002c0003t0001g0029 others(30): Show |
33 | 372 | 0.0887 | 1 | c.511 others(4): Show |
p.Arg others(5): Show |
MBOAT7 | ENSG00000125505.17 | transcript | ENST00000245615.6 | protein_coding | 6/8 | 757/2294 | 511/1419 | 171/472 | chr19 | 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 | |||
MIIP_chr1_12014498_12037045 | 12029821 | A | AC | frameshift_variant | HIGH | HG00438.hp2 HG00597.hp1 HG02055.hp2 others(8): Show |
a0007a0009a0010 | a0007c0007a0009c0010a0010c0011 | a0007c0007t0001a0007c0007t0006a0009c0010t0001others(1): Show | a0007c0007t0001g0001 a0007c0007t0001g0009 a0007c0007t0001g0038 others(7): Show |
11 | 412 | 0.0267 | 1 | c.777 others(4): Show |
p.Cys others(5): Show |
MIIP | ENSG00000116691.11 | transcript | ENST00000235332.6 | protein_coding | 7/10 | 915/1541 | 778/1167 | 260/388 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
MMP27_chr11_102686487_102710769 | 102702969 | C | T | splice_donor_variant others(1): Show |
HIGH | HG02055.hp1 | a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0105 | 1 | 456 | 0.0022 | 0 | c.490 others(5): Show |
MMP27 | ENSG00000137675.5 | transcript | ENST00000260229.5 | protein_coding | 3/9 | chr11 | 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 | a0001c0002t0031g0136 a0001c0006t0003g0005 a0001c0006t0003g0006 others(143): Show |
148 | 365 | 0.4055 | 1 | c.451 others(7): Show |
MON2 | ENSG00000061987.16 | transcript | ENST00000393630.8 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MRGPRX3_chr11_18127571_18143488 | 18138122 | G | A | stop_gained | HIGH | HG00733.hp1 HG00741.hp1 HG00741.hp2 others(13): Show |
a0005a0009 | a0005c0007a0009c0012 | a0005c0007t0002a0009c0012t0002 | a0005c0007t0002g0003 a0005c0007t0002g0025 a0005c0007t0002g0035 others(2): Show |
16 | 438 | 0.0365 | 0 | c.920 others(3): Show |
p.Trp others(4): Show |
MRGPRX3 | ENSG00000179826.8 | transcript | ENST00000621697.2 | protein_coding | 2/2 | 1114/1480 | 920/969 | 307/322 | chr11 | TogoVar | |||
MROH7_chr1_54636786_54715266 | 54673740 | C | T | stop_gained | HIGH | HG02055.hp1 | a0036 | a0036c0067 | a0036c0067t0003 | a0036c0067t0003g0368 | 1 | 378 | 0.0026 | 0 | c.173 others(4): Show |
p.Arg others(4): Show |
MROH7 | ENSG00000184313.20 | transcript | ENST00000421030.7 | protein_coding | 9/24 | 2027/4343 | 1735/3972 | 579/1323 | chr1 | TogoVar | |||
MRPL21_chr11_68886278_68908832 | 68903809 | A | G | start_lost | HIGH | HG01934.hp2 HG02055.hp2 HG02809.hp2 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0010 a0002c0002t0002g0078 a0002c0002t0002g0079 others(1): Show |
8 | 394 | 0.0203 | 0 | c.2T> others(1): Show |
p.Met others(2): Show |
MRPL21 | ENSG00000197345.13 | transcript | ENST00000362034.7 | protein_coding | 1/7 | 24/693 | 2/618 | 1/205 | chr11 | TogoVar | |||
MRPL36_chr5_1793385_1804837 | 1799789 | T | TACCCGGC others(11): Show |
splice_donor_variant others(1): Show |
HIGH | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(82): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0031 others(2): Show |
85 | 430 | 0.1977 | 18 | c.-28 others(27): Show |
MRPL36 | ENSG00000171421.13 | transcript | ENST00000505059.7 | protein_coding | 1/1 | chr5 | TogoVar | |||||||
MRPS34_chr16_1766895_1778134 | 1772796 | C | CACCT | splice_donor_variant others(1): Show |
HIGH | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(166): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0003a0004c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0004g0012 others(6): Show |
169 | 434 | 0.3894 | 4 | c.320 others(13): Show |
MRPS34 | ENSG00000074071.15 | transcript | ENST00000397375.7 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
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 | |||
MS4A4E_chr11_60195270_60248137 | 60201743 | C | CG | frameshift_variant | HIGH | HG00738.hp1 HG02055.hp1 HG03927.hp2 others(4): Show |
a0006a0008a0014 | a0006c0009a0006c0019a0008c0016others(2): Show | a0006c0009t0002a0006c0019t0004a0008c0016t0003others(2): Show | a0006c0009t0002g0206 a0006c0009t0002g0229 a0006c0009t0002g0234 others(4): Show |
7 | 407 | 0.0172 | 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 | |||
MTIF2_chr2_55231595_55274231 | 55254128 | T | TC | frameshift_variant | HIGH | HG01978.hp1 HG02055.hp2 HG02486.hp1 others(3): Show |
a0004a0006 | a0004c0006a0006c0008 | a0004c0006t0001a0006c0008t0001 | a0004c0006t0001g0147 a0004c0006t0001g0164 a0004c0006t0001g0202 others(3): Show |
6 | 382 | 0.0157 | 1 | c.576 others(4): Show |
p.Lys others(5): Show |
MTIF2 | ENSG00000085760.15 | transcript | ENST00000263629.9 | protein_coding | 7/16 | 875/2536 | 576/2184 | 192/727 | chr2 | TogoVar | |||
MUC22_chr6_31005474_31040402 | 31027337 | AC | A | frameshift_variant | HIGH | HG00597.hp2 HG00609.hp2 HG00673.hp1 others(38): Show |
a0007a0017a0036others(8): Show | a0007c0007a0007c0022a0017c0016others(10): Show | a0007c0007t0001a0007c0022t0001a0017c0016t0001others(10): Show | a0007c0007t0001g0001 a0007c0007t0001g0124 a0007c0007t0001g0210 others(16): Show |
41 | 460 | 0.0891 | -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 | ||
MYL1_chr2_210285150_210320174 | 210315041 | A | AT | frameshift_variant others(1): Show |
HIGH | HG01109.hp2 HG01891.hp2 HG02055.hp1 others(9): Show |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0001a0002c0005t0004 | a0001c0003t0001g0032 a0001c0003t0001g0033 a0001c0003t0001g0061 others(7): Show |
12 | 394 | 0.0305 | 1 | c.1du others(2): Show |
p.Met others(3): Show |
MYL1 | ENSG00000168530.16 | transcript | ENST00000352451.4 | protein_coding | 1/7 | 133/1049 | 1/585 | 1/194 | chr2 | TogoVar | |||
MYO15B_chr17_75582800_75631849 | 75588737 | C | CG | frameshift_variant | HIGH | HG00642.hp1 HG00735.hp2 HG00738.hp1 others(39): Show |
a0003a0013a0097 | a0003c0008a0003c0024a0003c0025others(28): Show | a0003c0008t0002a0003c0024t0002a0003c0025t0002others(28): Show | a0003c0008t0002g0047 a0003c0008t0002g0065 a0003c0008t0002g0068 others(37): Show |
42 | 382 | 0.1099 | 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 |
a0003a0097 | a0003c0008a0003c0024a0003c0025others(24): Show | a0003c0008t0002a0003c0024t0002a0003c0025t0002others(24): Show | a0003c0008t0002g0047 a0003c0008t0002g0065 a0003c0008t0002g0068 others(33): Show |
37 | 382 | 0.0969 | 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 |
a0003a0009a0013others(6): Show | a0003c0039a0003c0057a0003c0062others(17): Show | a0003c0039t0002a0003c0057t0002a0003c0062t0002others(17): Show | a0003c0039t0002g0074 a0003c0039t0002g0075 a0003c0057t0002g0048 others(19): Show |
23 | 382 | 0.0602 | -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 |
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 | ||
MYOF_chr10_93301429_93487334 | 93366520 | A | AC | frameshift_variant | HIGH | HG00735.hp2 HG01891.hp2 HG02055.hp2 others(4): Show |
a0005 | a0005c0014a0005c0020a0005c0030others(1): Show | a0005c0014t0001a0005c0020t0001a0005c0030t0002others(1): Show | a0005c0014t0001g0063 a0005c0014t0001g0132 a0005c0014t0001g0142 others(4): Show |
7 | 238 | 0.0294 | 1 | c.262 others(5): Show |
p.Thr others(5): Show |
MYOF | ENSG00000138119.17 | transcript | ENST00000359263.9 | protein_coding | 26/54 | 2764/6860 | 2624/6186 | 875/2061 | chr10 | 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 |