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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MICAL1_chr6_109439062_109460772 | 109448106 | ACACACAC others(20): Show |
A | intron_variant | MODIFIER | HG00558.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0122 | 1 | 432 | 0.0023 | -27 | c.185 others(42): Show |
MICAL1 | ENSG00000135596.18 | transcript | ENST00000358807.8 | protein_coding | 13/24 | chr6 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17876973 | TGGAGGTT others(20): Show |
T | intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0263 | 1 | 249 | 0.0040 | -27 | c.224 others(46): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MICAL3_chr22_17782649_18029561 | 17877553 | GGTTATGG others(20): Show |
G | intron_variant | MODIFIER | HG02818.hp1 HG03209.hp2 |
a0010a0026 | a0010c0017a0026c0055 | a0010c0017t0006a0026c0055t0005 | a0010c0017t0006g0011 a0026c0055t0005g0045 |
2 | 271 | 0.0074 | -27 | c.224 others(46): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MINAR1_chr15_79427336_79477304 | 79464866 | TTGATTCT others(20): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00597.hp2 others(58): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0004a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0033others(13): Show | a0001c0001t0001g0216 a0001c0001t0013g0006 a0001c0001t0033g0006 others(47): Show |
61 | 388 | 0.1572 | -27 | c.255 others(46): Show |
MINAR1 | ENSG00000169330.9 | transcript | ENST00000305428.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MINDY2_chr15_58766302_58866900 | 58852922 | GTTTTTTT others(20): Show |
G | intron_variant | MODIFIER | HG06807.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0080a0001c0001t0083 | a0001c0001t0080g0017 a0001c0001t0083g0018 |
2 | 145 | 0.0138 | -27 | c.173 others(45): Show |
MINDY2 | ENSG00000128923.11 | transcript | ENST00000559228.6 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MINDY2_chr15_58766302_58866900 | 58852945 | TTTTTTTT others(20): Show |
T | intron_variant | MODIFIER | HG01978.hp1 HG02293.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0063 | a0001c0001t0002g0331 a0001c0001t0063g0203 |
2 | 382 | 0.0052 | -27 | c.173 others(45): Show |
MINDY2 | ENSG00000128923.11 | transcript | ENST00000559228.6 | protein_coding | 8/8 | chr15 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50488760 | TGTCCCTC others(20): Show |
T | intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0030 | 1 | 431 | 0.0023 | -27 | c.409 others(42): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MIOX_chr22_50481859_50495648 | 50488788 | GTCCCTCC others(20): Show |
G | intron_variant | MODIFIER | NA18957.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 434 | 0.0023 | -27 | c.409 others(42): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MKKS_chr20_10396009_10439222 | 10432448 | CAGGACCC others(20): Show |
C | intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 388 | 0.0026 | -27 | c.-64 others(46): Show |
MKKS | ENSG00000125863.20 | transcript | ENST00000347364.7 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
MKLN1_chr7_131322876_131501632 | 131444736 | TAGTAGTA others(20): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02895.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0019a0001c0002t0056 | a0001c0001t0002g0278 a0001c0002t0019g0308 a0001c0002t0019g0309 others(1): Show |
4 | 318 | 0.0126 | -27 | c.139 others(45): Show |
MKLN1 | ENSG00000128585.18 | transcript | ENST00000352689.11 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MKNK1_chr1_46552407_46609268 | 46585249 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | HG01123.hp1 HG02027.hp2 HG02257.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0123 a0001c0001t0001g0251 others(22): Show |
25 | 31 | 0.8065 | -27 | c.-2- others(42): Show |
MKNK1 | ENSG00000079277.22 | transcript | ENST00000371945.10 | protein_coding | 2/12 | chr1 | TogoVar | |||||||
MKNK2_chr19_2032471_2056244 | 2056055 | GTGTGGGC others(20): Show |
G | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0028a0001c0001t0038others(1): Show | a0001c0001t0026g0091 a0001c0001t0028g0031 a0001c0001t0038g0155 others(2): Show |
6 | 416 | 0.0144 | -27 | c.-50 others(38): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 4812 | chr19 | TogoVar | |||||||
MKNK2_chr19_2032471_2056244 | 2056084 | GTGGGCCG others(20): Show |
G | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01346.hp1 HG01358.hp1 others(23): Show |
a0001 | a0001c0001a0001c0008a0001c0009 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0002g0004 a0001c0001t0002g0027 a0001c0001t0002g0180 others(16): Show |
26 | 416 | 0.0625 | -27 | c.-51 others(38): Show |
MKNK2 | ENSG00000099875.16 | transcript | ENST00000250896.9 | protein_coding | 4841 | chr19 | TogoVar | |||||||
MLANA_chr9_5885889_5915606 | 5906331 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0077 | 1 | 422 | 0.0024 | -27 | c.175 others(42): Show |
MLANA | ENSG00000120215.10 | transcript | ENST00000381477.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
MLXIPL_chr7_73588202_73629522 | 73589169 | TTATAAAT others(20): Show |
T | downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 240 | 0.0042 | -27 | c.*46 others(38): Show |
MLXIPL | ENSG00000009950.16 | transcript | ENST00000313375.8 | protein_coding | 4032 | chr7 | TogoVar | |||||||
MLYCD_chr16_83894115_83932031 | 83918555 | CGCACACA others(20): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00597.hp1 HG01109.hp2 HG01255.hp1 others(27): Show |
a0001a0008 | a0001c0001a0001c0022a0008c0014 | a0001c0001t0013a0001c0001t0024a0001c0001t0035others(17): Show | a0001c0001t0013g0009 a0001c0001t0013g0212 a0001c0001t0013g0213 others(25): Show |
30 | 430 | 0.0698 | -27 | c.*30 others(38): Show |
MLYCD | ENSG00000103150.7 | transcript | ENST00000262430.6 | protein_coding | 5/5 | 3068 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MMP26_chr11_4699784_4997429 | 4781553 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | HG01978.hp2 HG02145.hp2 HG02622.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0033 a0001c0001t0001g0125 a0001c0001t0001g0127 others(5): Show |
8 | 83 | 0.0964 | -27 | c.-14 others(48): Show |
MMP26 | ENSG00000167346.9 | transcript | ENST00000380390.6 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39909258 | GGGGGAGG others(20): Show |
G | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0193 | 1 | 270 | 0.0037 | -27 | c.110 others(44): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 9/10 | chr6 | TogoVar | |||||||
MOCS1_chr6_39899170_39939462 | 39909297 | GGGGGAGA others(20): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02723.hp1 HG03516.hp2 others(8): Show |
a0003 | a0003c0003a0003c0005 | a0003c0003t0007a0003c0003t0009a0003c0003t0020others(1): Show | a0003c0003t0007g0007 a0003c0003t0007g0010 a0003c0003t0007g0011 others(8): Show |
11 | 270 | 0.0407 | -27 | c.110 others(44): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 9/10 | chr6 | TogoVar | |||||||
MORC1_chr3_108953248_109123134 | 108955590 | TAAAAAAA others(20): Show |
T | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02622.hp1 others(2): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0250 a0004c0004t0001g0251 a0004c0004t0001g0252 others(2): Show |
5 | 43 | 0.1163 | -27 | c.*33 others(38): Show |
MORC1 | ENSG00000114487.10 | transcript | ENST00000232603.10 | protein_coding | 2657 | chr3 | TogoVar | |||||||
MORC1_chr3_108953248_109123134 | 109023012 | GTACTTTT others(20): Show |
G | intron_variant | MODIFIER | HG01074.hp1 HG01346.hp2 HG02055.hp1 others(7): Show |
a0002 | a0002c0002a0002c0011 | a0002c0002t0002a0002c0011t0002 | a0002c0002t0002g0275 a0002c0002t0002g0280 a0002c0002t0002g0281 others(7): Show |
10 | 292 | 0.0342 | -27 | c.170 others(46): Show |
MORC1 | ENSG00000114487.10 | transcript | ENST00000232603.10 | protein_coding | 17/27 | chr3 | TogoVar | |||||||
MORN1_chr1_2316253_2396554 | 2323298 | CTGCGCCA others(20): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0079 | 1 | 78 | 0.0128 | -27 | c.129 others(44): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 13/13 | chr1 | TogoVar | |||||||
MOV10L1_chr22_50085006_50166687 | 50085863 | AGCCCGGA others(20): Show |
A | upstream_gene_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 | 1 | 398 | 0.0025 | -27 | c.-42 others(38): Show |
MOV10L1 | ENSG00000073146.17 | transcript | ENST00000262794.10 | protein_coding | 4142 | chr22 | TogoVar | |||||||
MOV10L1_chr22_50085006_50166687 | 50098218 | GTATTAAG others(20): Show |
G | intron_variant | MODIFIER | NA18999.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0182 | 1 | 246 | 0.0041 | -27 | c.283 others(44): Show |
MOV10L1 | ENSG00000073146.17 | transcript | ENST00000262794.10 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPHOSPH6_chr16_82143162_82175224 | 82170964 | AAAAAAAA others(20): Show |
A | upstream_gene_variant | MODIFIER | HG02015.hp2 HG02027.hp2 HG02273.hp2 others(6): Show |
a0001a0003 | a0001c0003a0003c0005 | a0001c0003t0001a0003c0005t0001 | a0001c0003t0001g0006 a0001c0003t0001g0038 a0001c0003t0001g0132 others(6): Show |
9 | 411 | 0.0219 | -27 | c.-81 others(36): Show |
MPHOSPH6 | ENSG00000135698.10 | transcript | ENST00000258169.9 | protein_coding | 741 | chr16 | TogoVar | |||||||
MPHOSPH6_chr16_82143162_82175224 | 82170966 | AAAAAAAA others(20): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01074.hp2 HG01192.hp2 others(14): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0002a0001c0003t0001a0001c0009t0005others(1): Show | a0001c0001t0002g0139 a0001c0003t0001g0004 a0001c0003t0001g0008 others(14): Show |
17 | 299 | 0.0569 | -27 | c.-81 others(36): Show |
MPHOSPH6 | ENSG00000135698.10 | transcript | ENST00000258169.9 | protein_coding | 743 | chr16 | TogoVar | |||||||
MPHOSPH6_chr16_82143162_82175224 | 82170968 | AAAAAAAA others(20): Show |
A | upstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0153 | 1 | 418 | 0.0024 | -27 | c.-82 others(36): Show |
MPHOSPH6 | ENSG00000135698.10 | transcript | ENST00000258169.9 | protein_coding | 745 | chr16 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43432854 | GAGAGAAA others(20): Show |
G | intron_variant | MODIFIER | HG01496.hp2 HG02258.hp1 HG03225.hp2 |
a0001 | a0001c0003a0001c0009 | a0001c0003t0011a0001c0009t0002 | a0001c0003t0011g0198 a0001c0003t0011g0239 a0001c0009t0002g0223 |
3 | 247 | 0.0121 | -27 | c.225 others(44): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43495470 | ATGGTGGA others(20): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG01069.hp1 HG01081.hp2 others(90): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0048 a0001c0001t0001g0052 a0001c0001t0001g0054 others(90): Show |
93 | 248 | 0.3750 | -27 | c.633 others(44): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43496313 | GCGGAGAT others(20): Show |
G | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0207 | 1 | 241 | 0.0041 | -27 | c.633 others(44): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | chr22 | TogoVar | |||||||
MPPED1_chr22_43407014_43512848 | 43496622 | ATGGTGGT others(20): Show |
A | intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 114 | 0.0088 | -27 | c.633 others(44): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43496677 | AGATGGTG others(20): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0009 | 1 | 232 | 0.0043 | -27 | c.633 others(44): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43497044 | AGTGGTGG others(20): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0189 | 1 | 247 | 0.0040 | -27 | c.633 others(44): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43499852 | TGGTGGAG others(20): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG02559.hp1 HG02818.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0005a0001c0002t0008others(1): Show | a0001c0001t0008g0180 a0001c0002t0005g0248 a0001c0002t0008g0084 others(1): Show |
4 | 248 | 0.0161 | -27 | c.748 others(44): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MPPED2_chr11_30405224_30591353 | 30513867 | ACAAGGCA others(20): Show |
A | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0173 | 1 | 260 | 0.0038 | -27 | c.311 others(46): Show |
MPPED2 | ENSG00000066382.17 | transcript | ENST00000358117.10 | protein_coding | 3/6 | chr11 | TogoVar | |||||||
MPRIP_chr17_17037457_17197643 | 17066723 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | NA18964.hp1 NA18964.hp2 NA18969.hp1 |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0012a0003c0004t0004 | a0001c0001t0001g0025 a0001c0002t0012g0039 a0003c0004t0004g0269 |
3 | 7 | 0.4286 | -27 | c.124 others(44): Show |
MPRIP | ENSG00000133030.22 | transcript | ENST00000651222.2 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144222036 | CTAGGATT others(20): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(41): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0016others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0050 a0001c0001t0001g0062 a0001c0001t0001g0102 others(41): Show |
44 | 138 | 0.3188 | -27 | c.121 others(46): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 13/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144255884 | TGGCCACC others(20): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0004 | a0004c0018 | a0004c0018t0001 | a0004c0018t0001g0017 | 1 | 138 | 0.0072 | -27 | c.379 others(44): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 35/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MROH2A_chr2_233773330_233838418 | 233790619 | CCTCCCCT others(20): Show |
C | intron_variant | MODIFIER | HG02683.hp1 HG02698.hp2 HG03704.hp1 others(1): Show |
a0002a0003a0076 | a0002c0020a0003c0078a0076c0140 | a0002c0020t0001a0003c0078t0001a0076c0140t0001 | a0002c0020t0001g0308 a0002c0020t0001g0347 a0003c0078t0001g0160 others(1): Show |
4 | 360 | 0.0111 | -27 | c.571 others(42): Show |
MROH2A | ENSG00000185038.15 | transcript | ENST00000389758.4 | protein_coding | 5/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MROH6_chr8_143561192_143577772 | 143575823 | GGGTGGGG others(20): Show |
G | upstream_gene_variant | MODIFIER | HG03831.hp2 | a0027 | a0027c0026 | a0027c0026t0001 | a0027c0026t0001g0095 | 1 | 436 | 0.0023 | -27 | c.-31 others(38): Show |
MROH6 | ENSG00000204839.9 | transcript | ENST00000398882.8 | protein_coding | 3052 | chr8 | TogoVar | |||||||
MROH6_chr8_143561192_143577772 | 143575880 | TGAAGGGG others(20): Show |
T | upstream_gene_variant | MODIFIER | NA19065.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0014 | 1 | 436 | 0.0023 | -27 | c.-31 others(38): Show |
MROH6 | ENSG00000204839.9 | transcript | ENST00000398882.8 | protein_coding | 3109 | chr8 | TogoVar | |||||||
MRPL36_chr5_1793385_1804837 | 1797048 | GCATGCAC others(20): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(151): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0006a0004c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0027 others(3): Show |
154 | 430 | 0.3581 | -27 | c.*15 others(38): Show |
MRPL36 | ENSG00000171421.13 | transcript | ENST00000505059.7 | protein_coding | 1336 | chr5 | TogoVar | |||||||
MRPL41_chr9_137546879_137557555 | 137551690 | CGAGCCCC others(20): Show |
C | upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 406 | 0.0025 | -27 | c.-29 others(36): Show |
MRPL41 | ENSG00000182154.8 | transcript | ENST00000371443.6 | protein_coding | 188 | chr9 | TogoVar | |||||||
MRPL41_chr9_137546879_137557555 | 137551704 | CGAGCCCC others(20): Show |
C | upstream_gene_variant | MODIFIER | HG02723.hp1 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0001 a0001c0001t0003g0001 |
2 | 405 | 0.0049 | -27 | c.-28 others(36): Show |
MRPL41 | ENSG00000182154.8 | transcript | ENST00000371443.6 | protein_coding | 174 | chr9 | TogoVar | |||||||
MRPL57_chr13_21171658_21184084 | 21174889 | TAATTTGC others(20): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(31): Show |
a0001a0004 | a0001c0001a0004c0002 | a0001c0001t0001a0004c0002t0001 | a0001c0001t0001g0001 a0004c0002t0001g0001 |
34 | 410 | 0.0829 | -27 | c.-18 others(38): Show |
MRPL57 | ENSG00000173141.5 | transcript | ENST00000309594.5 | protein_coding | 1768 | chr13 | TogoVar | |||||||
MRTFA_chr22_40405289_40641719 | 40501424 | GGCTCCTC others(20): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00738.hp2 others(67): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(12): Show | a0001c0001t0001g0065 a0001c0001t0001g0069 a0001c0001t0001g0071 others(67): Show |
70 | 151 | 0.4636 | -27 | c.242 others(46): Show |
MRTFA | ENSG00000196588.21 | transcript | ENST00000355630.10 | protein_coding | 3/14 | WARNING_TRANSCRIPT_NO_START_CODON | chr22 | TogoVar | ||||||
MS4A4A_chr11_60275666_60313970 | 60294892 | ACTTCTTC others(20): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 20 | 0.0500 | -27 | c.202 others(44): Show |
MS4A4A | ENSG00000110079.19 | transcript | ENST00000337908.5 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MSH2_chr2_47398156_47488223 | 47424502 | ATTACAGG others(20): Show |
A | intron_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 368 | 0.0027 | -27 | c.107 others(46): Show |
MSH2 | ENSG00000095002.15 | transcript | ENST00000233146.7 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MSH3_chr5_80649652_80881815 | 80654887 | GCTGCAGC others(20): Show |
G | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(55): Show |
a0003a0005a0007 | a0003c0003a0005c0006a0007c0010others(1): Show | a0003c0003t0003a0003c0003t0012a0003c0003t0014others(5): Show | a0003c0003t0003g0003 a0003c0003t0003g0004 a0003c0003t0003g0006 others(55): Show |
58 | 360 | 0.1611 | -27 | c.162 others(34): Show |
p.Ala others(11): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 1/24 | 238/4443 | 162/3414 | 54/1137 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
MSH3_chr5_80649652_80881815 | 80691983 | ATGTATAT others(20): Show |
A | intron_variant | MODIFIER | HG03486.hp2 | a0026 | a0026c0032 | a0026c0032t0020 | a0026c0032t0020g0222 | 1 | 348 | 0.0029 | -27 | c.134 others(48): Show |
MSH3 | ENSG00000113318.11 | transcript | ENST00000265081.7 | protein_coding | 8/23 | chr5 | TogoVar |