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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAGEE2_chrX_75777987_75790254 | 75785003 | C | CT | frameshift_variant | HIGH | NA19076.hp1 | a0007 | a0007c0005 | a0007c0005t0002 | a0007c0005t0002g0000 | 1 | 277 | 0.0036 | 1 | c.48_ others(6): Show |
p.Ala others(4): Show |
MAGEE2 | ENSG00000186675.7 | transcript | ENST00000373359.4 | protein_coding | 1/1 | 251/2268 | 48/1572 | 16/523 | chrX | TogoVar | ||
MAGEH1_chrX_55447127_55458566 | 55452646 | TC | T | frameshift_variant | HIGH | NA19086.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0000 | 1 | 304 | 0.0033 | -1 | c.274 others(4): Show |
p.Leu others(4): Show |
MAGEH1 | ENSG00000187601.5 | transcript | ENST00000342972.3 | protein_coding | 1/1 | 522/1440 | 274/660 | 92/219 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEH1_chrX_55447127_55458566 | 55453023 | TC | T | frameshift_variant | HIGH | NA19086.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0000 | 1 | 304 | 0.0033 | -1 | c.651 others(4): Show |
p.Ala others(5): Show |
MAGEH1 | ENSG00000187601.5 | transcript | ENST00000342972.3 | protein_coding | 1/1 | 899/1440 | 651/660 | 217/219 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGEL2_chr15_23638549_23652867 | 23646183 | T | TG | frameshift_variant | HIGH | HG01192.hp1 HG02056.hp2 HG02135.hp1 others(10): Show |
a0003a0019a0027 | a0003c0003a0019c0036a0027c0028 | a0003c0003t0001a0003c0003t0002a0019c0036t0001others(1): Show | a0003c0003t0001g0000a0003c0003t0002g0000a0019c0036t0001g0000others(1): Show | 13 | 436 | 0.0298 | 1 | c.155 others(5): Show |
p.Pro others(5): Show |
MAGEL2 | ENSG00000254585.5 | transcript | ENST00000650528.1 | protein_coding | 1/1 | 1684/4319 | 1559/3750 | 520/1249 | chr15 | 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 | |
MAGIX_chrX_49157758_49173774 | 49166122 | C | CG | frameshift_variant | HIGH | HG02155.hp2 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0001 | 1 | 260 | 0.0039 | 1 | c.732 others(4): Show |
p.Ser others(5): Show |
MAGIX | ENSG00000269313.6 | transcript | ENST00000595224.6 | protein_coding | 6/6 | 865/3512 | 733/1005 | 245/334 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGIX_chrX_49157758_49173774 | 49166187 | AC | A | frameshift_variant | HIGH | HG03098.hp1 | a0008 | a0008c0012 | a0008c0012t0002 | a0008c0012t0002g0001 | 1 | 260 | 0.0039 | -1 | c.796 others(4): Show |
p.Arg others(5): Show |
MAGIX | ENSG00000269313.6 | transcript | ENST00000595224.6 | protein_coding | 6/6 | 928/3512 | 796/1005 | 266/334 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGIX_chrX_49157758_49173774 | 49166337 | C | CT | frameshift_variant | HIGH | HG03471.hp1 | a0000 | a0000c0009 | a0000c0009t0008 | a0000c0009t0008g0023 | 1 | 260 | 0.0039 | 1 | c.944 others(4): Show |
p.Gly others(5): Show |
MAGIX | ENSG00000269313.6 | transcript | ENST00000595224.6 | protein_coding | 6/6 | 1077/3512 | 945/1005 | 315/334 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
MAGT1_chrX_77820747_77900435 | 77856755 | GT | G | frameshift_variant | HIGH | NA19076.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0209 | 1 | 260 | 0.0039 | -1 | c.649 others(4): Show |
p.Thr others(5): Show |
MAGT1 | ENSG00000102158.22 | transcript | ENST00000618282.5 | protein_coding | 5/10 | 674/4506 | 649/1008 | 217/335 | chrX | TogoVar | ||
MAGT1_chrX_77820747_77900435 | 77857435 | A | AC | frameshift_variant | HIGH | HG01515.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0211 | 1 | 260 | 0.0039 | 1 | c.452 others(4): Show |
p.Asp others(5): Show |
MAGT1 | ENSG00000102158.22 | transcript | ENST00000618282.5 | protein_coding | 4/10 | 477/4506 | 452/1008 | 151/335 | chrX | TogoVar | ||
MAMDC4_chr9_136847346_136865799 | 136855611 | AGGCCTGT others(22): Show |
A | frameshift_variant others(3): Show |
HIGH | NA18978.hp1 | a0028 | a0028c0027 | a0028c0027t0001 | a0028c0027t0001g0021 | 1 | 350 | 0.0029 | -29 | c.146 others(41): Show |
p.Ala others(5): Show |
MAMDC4 | ENSG00000177943.14 | transcript | ENST00000317446.7 | protein_coding | 12/27 | 1535/3681 | 1464/3414 | 488/1137 | chr9 | TogoVar | ||
MANEAL_chr1_37788847_37806133 | 37799952 | ACGCGCAA others(3): Show |
A | frameshift_variant | HIGH | HG03209.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0039 | 1 | 438 | 0.0023 | -10 | c.112 others(19): Show |
p.Thr others(5): Show |
MANEAL | ENSG00000185090.15 | transcript | ENST00000373045.11 | protein_coding | 4/4 | 1460/2640 | 1124/1374 | 375/457 | chr1 | TogoVar | ||
MANEAL_chr1_37788847_37806133 | 37800046 | AGTGGCAC others(45): Show |
A | frameshift_variant | HIGH | HG03209.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0039 | 1 | 438 | 0.0023 | -52 | c.121 others(61): Show |
p.Glu others(5): Show |
MANEAL | ENSG00000185090.15 | transcript | ENST00000373045.11 | protein_coding | 4/4 | 1554/2640 | 1218/1374 | 406/457 | chr1 | TogoVar | ||
MANSC1_chr12_12321056_12355242 | 12330917 | G | GTCTATGG others(9): Show |
frameshift_variant others(1): Show |
HIGH | NA18991.hp2 | a0005 | a0005c0011 | a0005c0011t0123 | a0005c0011t0123g0266 | 1 | 322 | 0.0031 | 16 | c.405 others(23): Show |
p.Pro others(5): Show |
MANSC1 | ENSG00000111261.14 | transcript | ENST00000535902.6 | protein_coding | 4/4 | 670/5532 | 405/1296 | 135/431 | chr12 | TogoVar | ||
MAOB_chrX_43761610_43887450 | 43802209 | T | TC | frameshift_variant | HIGH | NA18985.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0209 | 1 | 234 | 0.0043 | 1 | c.438 others(4): Show |
p.Thr others(5): Show |
MAOB | ENSG00000069535.14 | transcript | ENST00000378069.5 | protein_coding | 5/15 | 589/2570 | 438/1563 | 146/520 | chrX | TogoVar | ||
MAOB_chrX_43761610_43887450 | 43802232 | A | AG | frameshift_variant | HIGH | NA18985.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0209 | 1 | 234 | 0.0043 | 1 | c.415 others(4): Show |
p.Leu others(5): Show |
MAOB | ENSG00000069535.14 | transcript | ENST00000378069.5 | protein_coding | 5/15 | 566/2570 | 415/1563 | 139/520 | chrX | TogoVar | ||
MAOB_chrX_43761610_43887450 | 43838868 | C | CT | frameshift_variant others(1): Show |
HIGH | NA18985.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0209 | 1 | 234 | 0.0043 | 1 | c.278 others(4): Show |
p.Lys others(4): Show |
MAOB | ENSG00000069535.14 | transcript | ENST00000378069.5 | protein_coding | 3/15 | 429/2570 | 278/1563 | 93/520 | chrX | TogoVar | ||
MAOB_chrX_43761610_43887450 | 43882264 | G | GC | frameshift_variant | HIGH | HG02738.hp1 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0234 | 1 | 234 | 0.0043 | 1 | c.35d others(3): Show |
p.Gly others(4): Show |
MAOB | ENSG00000069535.14 | transcript | ENST00000378069.5 | protein_coding | 1/15 | 186/2570 | 35/1563 | 12/520 | chrX | 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 | a0005c0006t0001g0001a0005c0009t0001g0035a0005c0009t0001g0036others(3): Show | 11 | 290 | 0.0379 | 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 | |
MAP3K15_chrX_19355059_19520508 | 19360760 | C | CTT | frameshift_variant | HIGH | HG03516.hp1 | a0000 | a0000c0021 | a0000c0021t0007 | a0000c0021t0007g0054 | 1 | 163 | 0.0061 | 2 | c.392 others(11): Show |
p.Asp others(6): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 29/29 | 4177/4879 | 3930/3942 | 1310/1313 | chrX | TogoVar | ||
MAP3K15_chrX_19355059_19520508 | 19456969 | C | CA | frameshift_variant | HIGH | NA19060.hp1 | a0015 | a0015c0014 | a0015c0014t0001 | a0015c0014t0001g0025 | 1 | 163 | 0.0061 | 1 | c.938 others(8): Show |
p.Cys others(5): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 6/29 | 1185/4879 | 938/3942 | 313/1313 | chrX | TogoVar | ||
MAP3K15_chrX_19355059_19520508 | 19464377 | TG | T | frameshift_variant | HIGH | HG02897.hp1 | a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0129 | 1 | 163 | 0.0061 | -1 | c.554 others(4): Show |
p.Pro others(5): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 4/29 | 801/4879 | 554/3942 | 185/1313 | chrX | TogoVar | ||
MAP3K15_chrX_19355059_19520508 | 19515097 | G | GC | frameshift_variant | HIGH | HG03239.hp1 | a0017 | a0017c0024 | a0017c0024t0006 | a0017c0024t0006g0160 | 1 | 163 | 0.0061 | 1 | c.164 others(4): Show |
p.Gly others(4): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 1/29 | 411/4879 | 164/3942 | 55/1313 | chrX | TogoVar | ||
MAP3K4_chr6_160986769_161122380 | 161115245 | G | GAGTGACC others(3): Show |
frameshift_variant others(1): Show |
HIGH | HG02257.hp1 | a0011 | a0011c0015 | a0011c0015t0002 | a0011c0015t0002g0305 | 1 | 342 | 0.0029 | 10 | c.475 others(19): Show |
p.Met others(6): Show |
MAP3K4 | ENSG00000085511.20 | transcript | ENST00000392142.9 | protein_coding | 26/27 | 4925/5500 | 4762/4827 | 1588/1608 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
MAP7D1_chr1_36151160_36185849 | 36176495 | G | GC | frameshift_variant | HIGH | HG00741.hp1 HG01109.hp2 HG01261.hp1 others(9): Show |
a0006a0013a0019 | a0006c0009a0006c0019a0006c0026others(3): Show | a0006c0009t0001a0006c0009t0002a0006c0009t0007others(6): Show | a0006c0009t0001g0116a0006c0009t0001g0143a0006c0009t0002g0019others(9): Show | 12 | 378 | 0.0318 | 1 | c.115 others(5): Show |
p.Ala others(5): Show |
MAP7D1 | ENSG00000116871.16 | transcript | ENST00000474796.2 | protein_coding | 7/17 | 1411/3372 | 1153/2523 | 385/840 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |
MAP7D2_chrX_20001713_20121907 | 20010951 | CG | C | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0011 | a0004c0011t0006 | a0004c0011t0006g0004 | 1 | 210 | 0.0048 | -1 | c.217 others(5): Show |
p.Arg others(5): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 16/17 | 2201/4062 | 2173/2322 | 725/773 | chrX | TogoVar | ||
MAP7D2_chrX_20001713_20121907 | 20012429 | TC | T | frameshift_variant | HIGH | NA19060.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0061 | 1 | 210 | 0.0048 | -1 | c.199 others(5): Show |
p.Gly others(5): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 15/17 | 2019/4062 | 1991/2322 | 664/773 | chrX | TogoVar | ||
MAP7D2_chrX_20001713_20121907 | 20012480 | TG | T | frameshift_variant | HIGH | NA18974.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0104 | 1 | 210 | 0.0048 | -1 | c.194 others(5): Show |
p.Pro others(5): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 15/17 | 1968/4062 | 1940/2322 | 647/773 | chrX | TogoVar | ||
MAP7D2_chrX_20001713_20121907 | 20016118 | T | TTG | frameshift_variant | HIGH | NA18989.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0020 | 1 | 210 | 0.0048 | 2 | c.161 others(11): Show |
p.Gln others(5): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 11/17 | 1647/4062 | 1619/2322 | 540/773 | chrX | TogoVar | ||
MAP7D2_chrX_20001713_20121907 | 20016137 | T | TC | frameshift_variant | HIGH | NA18989.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0020 | 1 | 210 | 0.0048 | 1 | c.160 others(10): Show |
p.Lys others(5): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 11/17 | 1628/4062 | 1600/2322 | 534/773 | chrX | TogoVar | ||
MAP7D2_chrX_20001713_20121907 | 20016203 | T | TC | frameshift_variant | HIGH | NA18989.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0020 | 1 | 210 | 0.0048 | 1 | c.153 others(5): Show |
p.Glu others(5): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 11/17 | 1562/4062 | 1534/2322 | 512/773 | chrX | TogoVar | ||
MAP7D2_chrX_20001713_20121907 | 20016217 | T | TC | frameshift_variant | HIGH | NA18989.hp1 | a0009 | a0009c0009 | a0009c0009t0001 | a0009c0009t0001g0020 | 1 | 210 | 0.0048 | 1 | c.152 others(10): Show |
p.Gln others(5): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 11/17 | 1548/4062 | 1520/2322 | 507/773 | chrX | TogoVar | ||
MAP7D2_chrX_20001713_20121907 | 20025005 | C | CG | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0011 | a0004c0011t0006 | a0004c0011t0006g0004 | 1 | 210 | 0.0048 | 1 | c.135 others(5): Show |
p.Arg others(5): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 10/17 | 1385/4062 | 1357/2322 | 453/773 | chrX | TogoVar | ||
MAP7D2_chrX_20001713_20121907 | 20025699 | T | TC | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0011 | a0004c0011t0006 | a0004c0011t0006g0004 | 1 | 210 | 0.0048 | 1 | c.126 others(5): Show |
p.Lys others(5): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 9/17 | 1288/4062 | 1260/2322 | 420/773 | chrX | TogoVar | ||
MAP7D2_chrX_20001713_20121907 | 20025854 | T | TC | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0011 | a0004c0011t0006 | a0004c0011t0006g0004 | 1 | 210 | 0.0048 | 1 | c.110 others(5): Show |
p.Asp others(5): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 9/17 | 1133/4062 | 1105/2322 | 369/773 | chrX | TogoVar | ||
MAP7D2_chrX_20001713_20121907 | 20025866 | A | AG | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0011 | a0004c0011t0006 | a0004c0011t0006g0004 | 1 | 210 | 0.0048 | 1 | c.109 others(5): Show |
p.Leu others(5): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 9/17 | 1121/4062 | 1093/2322 | 365/773 | chrX | TogoVar | ||
MAP7D2_chrX_20001713_20121907 | 20025951 | T | TC | frameshift_variant others(1): Show |
HIGH | NA19076.hp1 | a0004 | a0004c0011 | a0004c0011t0006 | a0004c0011t0006g0004 | 1 | 210 | 0.0048 | 1 | c.100 others(5): Show |
p.Thr others(5): Show |
MAP7D2 | ENSG00000184368.16 | transcript | ENST00000379643.10 | protein_coding | 9/17 | 1036/4062 | 1008/2322 | 336/773 | chrX | TogoVar | ||
MAP7D3_chrX_136211814_136256400 | 136231870 | C | CG | frameshift_variant | HIGH | NA19089.hp2 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0092 | 1 | 276 | 0.0036 | 1 | c.108 others(5): Show |
p.Glu others(5): Show |
MAP7D3 | ENSG00000129680.16 | transcript | ENST00000316077.14 | protein_coding | 8/19 | 1128/4385 | 1086/2631 | 362/876 | chrX | TogoVar | ||
MAP7D3_chrX_136211814_136256400 | 136231987 | TG | T | frameshift_variant | HIGH | NA19086.hp1 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0182 | 1 | 276 | 0.0036 | -1 | c.969 others(4): Show |
p.Lys others(5): Show |
MAP7D3 | ENSG00000129680.16 | transcript | ENST00000316077.14 | protein_coding | 8/19 | 1011/4385 | 969/2631 | 323/876 | chrX | TogoVar | ||
MAPK11_chr22_50258713_50275380 | 50266978 | C | CG | frameshift_variant | HIGH | HG01175.hp2 HG01256.hp1 HG02293.hp2 others(6): Show |
a0002 | a0002c0004a0002c0005 | a0002c0004t0001a0002c0004t0002a0002c0004t0003others(2): Show | a0002c0004t0001g0096a0002c0004t0001g0128a0002c0004t0002g0068others(6): Show | 9 | 428 | 0.0210 | 1 | c.565 others(4): Show |
p.Arg others(5): Show |
MAPK11 | ENSG00000185386.15 | transcript | ENST00000330651.11 | protein_coding | 7/12 | 653/2418 | 565/1095 | 189/364 | chr22 | TogoVar | ||
MAPK8IP2_chr22_50595793_50618978 | 50605666 | C | CG | frameshift_variant | HIGH | NA18953.hp1 NA18966.hp2 NA18978.hp2 others(6): Show |
a0003 | a0003c0008a0003c0017a0003c0023 | a0003c0008t0001a0003c0008t0003a0003c0017t0004others(2): Show | a0003c0008t0001g0001a0003c0008t0001g0004a0003c0008t0001g0024others(5): Show | 9 | 436 | 0.0206 | 1 | c.195 others(5): Show |
p.Glu others(5): Show |
MAPK8IP2 | ENSG00000008735.14 | transcript | ENST00000329492.6 | protein_coding | 7/12 | 1978/5700 | 1952/2475 | 651/824 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
MAST3_chr19_18092778_18156687 | 18149704 | T | TCGGGGGG others(27): Show |
frameshift_variant | HIGH | HG01496.hp1 | a0000 | a0000c0024 | a0000c0024t0001 | a0000c0024t0001g0016 | 1 | 296 | 0.0034 | 34 | c.402 others(43): Show |
p.Pro others(6): Show |
MAST3 | ENSG00000099308.13 | transcript | ENST00000687212.1 | protein_coding | 28/28 | 4042/6020 | 4027/4044 | 1343/1347 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
MAT2A_chr2_85534168_85550281 | 85542658 | A | ACCAGTCA others(10): Show |
frameshift_variant | HIGH | NA18987.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0020 | 1 | 418 | 0.0024 | 17 | c.865 others(24): Show |
p.Lys others(5): Show |
MAT2A | ENSG00000168906.13 | transcript | ENST00000306434.8 | protein_coding | 7/9 | 986/2817 | 866/1188 | 289/395 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |
MAT2B_chr5_163500619_163524354 | 163517574 | AGGGAACC others(10): Show |
A | frameshift_variant | HIGH | HG01346.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0048 | 1 | 370 | 0.0027 | -17 | c.735 others(24): Show |
p.Lys others(5): Show |
MAT2B | ENSG00000038274.18 | transcript | ENST00000321757.11 | protein_coding | 6/7 | 803/2064 | 735/1005 | 245/334 | chr5 | TogoVar | ||
MATK_chr19_3772973_3791381 | 3784223 | C | CG | frameshift_variant | HIGH | HG00544.hp1 HG00544.hp2 HG02004.hp1 others(12): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003 | a0002c0002t0001g0017a0002c0002t0001g0041a0002c0002t0001g0042others(10): Show | 15 | 434 | 0.0346 | 1 | c.262 others(4): Show |
p.Arg others(4): Show |
MATK | ENSG00000007264.15 | transcript | ENST00000310132.11 | protein_coding | 5/14 | 626/2098 | 262/1524 | 88/507 | chr19 | TogoVar | ||
MAVS_chr20_3841834_3881118 | 3864437 | T | TAAACAGG others(7): Show |
frameshift_variant | HIGH | NA19068.hp1 | a0018 | a0018c0022 | a0018c0022t0139 | a0018c0022t0139g0182 | 1 | 420 | 0.0024 | 14 | c.808 others(21): Show |
p.Ser others(5): Show |
MAVS | ENSG00000088888.18 | transcript | ENST00000428216.4 | protein_coding | 6/7 | 959/11731 | 822/1623 | 274/540 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |
MBD3L4_chr19_7032749_7045179 | 7040131 | G | GGTTCTCA others(31): Show |
frameshift_variant | HIGH | HG02135.hp1 | a0012 | a0012c0021 | a0012c0021t0006 | a0012c0021t0006g0053 | 1 | 262 | 0.0038 | 38 | c.13_ others(43): Show |
p.Ala others(3): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 1/2 | 48/774 | 13/627 | 5/208 | chr19 | TogoVar | ||
MBD3L5_chr19_7025578_7038011 | 7032889 | G | AGATGAAG others(18253): Show |
frameshift_variant others(1): Show |
HIGH | HG02257.hp2 | a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0031 | 1 | 249 | 0.0040 | 18260 | c.621 others(18267): Show |
p.Gly others(5): Show |
MBD3L5 | ENSG00000237247.6 | transcript | ENST00000329753.5 | protein_coding | 2/2 | 656/778 | 622/627 | 208/208 | chr19 | TogoVar | ||
MBD5_chr2_148016091_148521971 | 148490109 | CTAGAGGA others(3): Show |
C | frameshift_variant | HIGH | NA18985.hp2 | a0007 | a0007c0011 | a0007c0011t0005 | a0007c0011t0005g0057 | 1 | 188 | 0.0053 | -10 | c.447 others(19): Show |
p.Glu others(6): Show |
MBD5 | ENSG00000204406.14 | transcript | ENST00000642680.2 | protein_coding | 11/14 | 5997/10732 | 4479/5184 | 1493/1727 | INFO_REALIGN_3_PRIME | chr2 | 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 | a0002c0003t0001g0012a0002c0003t0001g0024a0002c0003t0001g0025others(30): Show | 33 | 373 | 0.0885 | 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 |