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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAPT_chr17_45889554_46033334 | 45953003 | T | TATGATGA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00544.hp2 others(53): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0010a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0042 a0001c0001t0001g0128 a0001c0001t0001g0139 others(53): Show |
56 | 253 | 0.2213 | 9 | c.-17 others(26): Show |
MAPT | ENSG00000186868.18 | transcript | ENST00000262410.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MARCHF10_chr17_62696314_62813314 | 62723559 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00673.hp2 HG02080.hp1 others(7): Show |
a0001a0016 | a0001c0001a0016c0019 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(1): Show | a0001c0001t0001g0246 a0001c0001t0003g0023 a0001c0001t0003g0062 others(7): Show |
10 | 280 | 0.0357 | 9 | c.210 others(26): Show |
MARCHF10 | ENSG00000173838.12 | transcript | ENST00000311269.10 | protein_coding | 7/10 | chr17 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163573295 | C | CTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01071.hp1 HG02080.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0002 | a0001c0001t0005g0021 a0001c0002t0002g0062 |
2 | 102 | 0.0196 | 9 | c.119 others(30): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 8/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163583652 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02723.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0013a0001c0002t0003a0001c0005t0011others(2): Show | a0001c0001t0013g0015 a0001c0002t0003g0016 a0001c0005t0011g0069 others(2): Show |
5 | 102 | 0.0490 | 9 | c.119 others(28): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 8/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163767098 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | NA18944.hp2 NA18969.hp1 NA18972.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002 | a0001c0001t0001g0076 a0001c0001t0004g0052 a0001c0001t0004g0057 others(1): Show |
4 | 102 | 0.0392 | 9 | c.112 others(28): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163832582 | A | ATATTATT others(2): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00741.hp2 HG01071.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0017others(6): Show | a0001c0001t0001g0035 a0001c0001t0001g0078 a0001c0001t0004g0068 others(9): Show |
12 | 102 | 0.1177 | 9 | c.111 others(28): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 4/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164076136 | T | TAACAACA others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG02132.hp1 HG02280.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0017others(5): Show | a0001c0001t0001g0091 a0001c0001t0013g0018 a0001c0001t0017g0039 others(8): Show |
11 | 102 | 0.1078 | 9 | c.-24 others(30): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 2/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164081207 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02080.hp2 HG02257.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(5): Show | a0001c0001t0004g0100 a0001c0001t0006g0008 a0001c0001t0009g0088 others(5): Show |
8 | 102 | 0.0784 | 9 | c.-24 others(30): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 2/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164198609 | C | CAGGAATT others(2): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02132.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002 | a0001c0001t0004g0056 a0001c0002t0002g0054 |
2 | 102 | 0.0196 | 9 | c.-32 others(30): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 164258391 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00741.hp1 HG01109.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0035 a0001c0001t0001g0036 others(18): Show |
21 | 102 | 0.2059 | 9 | c.-32 others(32): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 1/9 | chr4 | TogoVar | |||||||
MARCHF2_chr19_8408305_8444017 | 8415721 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00639.hp1 others(29): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0031a0002c0002t0001a0002c0002t0003others(2): Show | a0001c0001t0031g0067 a0002c0002t0001g0048 a0002c0002t0001g0050 others(28): Show |
32 | 392 | 0.0816 | 9 | c.-53 others(26): Show |
MARCHF2 | ENSG00000099785.11 | transcript | ENST00000215555.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MARCHF2_chr19_8408305_8444017 | 8429479 | C | CTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01361.hp1 NA18952.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0197 a0001c0001t0002g0198 a0001c0001t0002g0223 others(3): Show |
6 | 392 | 0.0153 | 9 | c.373 others(26): Show |
MARCHF2 | ENSG00000099785.11 | transcript | ENST00000215555.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MARCHF3_chr5_126862714_127035558 | 126866880 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG02055.hp1 HG02145.hp2 others(11): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(7): Show | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(11): Show |
14 | 296 | 0.0473 | 9 | c.*37 others(20): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 833 | chr5 | TogoVar | |||||||
MARCHF3_chr5_126862714_127035558 | 126866898 | A | AAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00558.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0024a0001c0001t0025others(9): Show | a0001c0001t0023g0275 a0001c0001t0023g0276 a0001c0001t0023g0290 others(15): Show |
18 | 296 | 0.0608 | 9 | c.*37 others(20): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 815 | chr5 | TogoVar | |||||||
MARCHF3_chr5_126862714_127035558 | 126966905 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00738.hp2 HG01071.hp1 others(13): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(8): Show | a0001c0001t0001g0079 a0001c0001t0001g0089 a0001c0001t0001g0140 others(13): Show |
16 | 296 | 0.0541 | 9 | c.-56 others(28): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
MARCHF3_chr5_126862714_127035558 | 127000290 | G | GCCTCTTG others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(111): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0180 a0001c0001t0002g0014 a0001c0001t0002g0015 others(111): Show |
114 | 296 | 0.3851 | 9 | c.-57 others(28): Show |
MARCHF3 | ENSG00000173926.6 | transcript | ENST00000308660.6 | protein_coding | 1/4 | chr5 | TogoVar | |||||||
MARCHF4_chr2_216252865_216377483 | 216320678 | T | TCTTTCTT others(2): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02738.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009 | a0001c0001t0001g0230 a0001c0001t0005g0302 a0001c0001t0009g0079 |
3 | 330 | 0.0091 | 9 | c.517 others(28): Show |
MARCHF4 | ENSG00000144583.5 | transcript | ENST00000273067.5 | protein_coding | 1/3 | chr2 | TogoVar | |||||||
MARCHF5_chr10_92286167_92358964 | 92289718 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01169.hp1 HG01192.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(7): Show | a0001c0001t0001g0233 a0001c0001t0003g0148 a0001c0001t0003g0169 others(11): Show |
14 | 306 | 0.0458 | 9 | c.-17 others(20): Show |
MARCHF5 | ENSG00000198060.10 | transcript | ENST00000358935.3 | protein_coding | 1448 | chr10 | TogoVar | |||||||
MARCHF5_chr10_92286167_92358964 | 92289732 | A | AAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00642.hp1 HG01070.hp1 HG01106.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0021others(2): Show | a0001c0001t0004g0270 a0001c0001t0008g0059 a0001c0001t0008g0060 others(4): Show |
7 | 306 | 0.0229 | 9 | c.-17 others(20): Show |
MARCHF5 | ENSG00000198060.10 | transcript | ENST00000358935.3 | protein_coding | 1434 | chr10 | TogoVar | |||||||
MARCHF8_chr10_45449585_45540371 | 45536835 | A | AAATAATA others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG01175.hp1 HG01891.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0002 | a0001c0001t0001g0005 a0001c0001t0001g0025 a0001c0001t0001g0028 others(9): Show |
12 | 348 | 0.0345 | 9 | c.-17 others(20): Show |
MARCHF8 | ENSG00000165406.16 | transcript | ENST00000453424.7 | protein_coding | 1465 | chr10 | TogoVar | |||||||
MARF1_chr16_15589387_15648154 | 15591629 | A | ACACACAC others(2): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 HG03516.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0072 a0001c0001t0001g0073 a0001c0001t0002g0308 |
3 | 393 | 0.0076 | 9 | c.*50 others(20): Show |
MARF1 | ENSG00000166783.22 | transcript | ENST00000396368.8 | protein_coding | 2757 | chr16 | TogoVar | |||||||
MARK3_chr14_103380415_103508831 | 103389528 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp1 others(66): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0316 a0001c0001t0001g0317 a0001c0001t0001g0318 others(66): Show |
69 | 348 | 0.1983 | 9 | c.51+ others(24): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MARK3_chr14_103380415_103508831 | 103412644 | T | TGATCTGC others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00597.hp2 others(132): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0015others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0214 a0001c0001t0001g0215 a0001c0001t0001g0216 others(132): Show |
135 | 348 | 0.3879 | 9 | c.243 others(26): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
MARK3_chr14_103380415_103508831 | 103427497 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01257.hp1 HG02004.hp2 others(7): Show |
a0001a0010 | a0001c0001a0010c0014 | a0001c0001t0002a0001c0001t0006a0010c0014t0002 | a0001c0001t0002g0111 a0001c0001t0002g0118 a0001c0001t0002g0120 others(7): Show |
10 | 348 | 0.0287 | 9 | c.244 others(24): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MARK3_chr14_103380415_103508831 | 103467674 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01952.hp2 HG02083.hp2 HG03927.hp1 others(6): Show |
a0001a0008 | a0001c0001a0008c0009 | a0001c0001t0001a0008c0009t0009 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0010 others(6): Show |
9 | 348 | 0.0259 | 9 | c.111 others(26): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 11/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MARK3_chr14_103380415_103508831 | 103481757 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01070.hp2 HG01106.hp2 others(27): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0003a0003c0006t0001 | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0012 others(27): Show |
30 | 348 | 0.0862 | 9 | c.158 others(28): Show |
MARK3 | ENSG00000075413.19 | transcript | ENST00000429436.7 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
MARK4_chr19_45246271_45310284 | 45300344 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01109.hp2 HG01346.hp1 others(12): Show |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0004g0235 a0001c0001t0005g0029 a0001c0001t0005g0043 others(12): Show |
15 | 260 | 0.0577 | 9 | c.192 others(26): Show |
MARK4 | ENSG00000007047.16 | transcript | ENST00000262891.9 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MARS1_chr12_57483068_57521652 | 57493836 | T | TATTATAT others(2): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02572.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0001t0001g0224 others(8): Show |
11 | 288 | 0.0382 | 9 | c.770 others(26): Show |
MARS1 | ENSG00000166986.15 | transcript | ENST00000262027.10 | protein_coding | 7/20 | chr12 | TogoVar | |||||||
MARVELD2_chr5_69410116_69449330 | 69426320 | C | CATTATTA others(2): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01081.hp2 others(57): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(18): Show | a0001c0001t0001g0047 a0001c0001t0001g0094 a0001c0001t0002g0006 others(55): Show |
60 | 345 | 0.1739 | 9 | c.118 others(28): Show |
MARVELD2 | ENSG00000152939.17 | transcript | ENST00000325631.10 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MASP2_chr1_11021523_11052239 | 11031528 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02055.hp2 others(22): Show |
a0002a0003a0004others(1): Show | a0002c0004a0002c0006a0002c0025others(3): Show | a0002c0004t0002a0002c0006t0002a0002c0025t0002others(3): Show | a0002c0004t0002g0233 a0002c0004t0002g0234 a0002c0004t0002g0235 others(22): Show |
25 | 346 | 0.0723 | 9 | c.108 others(26): Show |
MASP2 | ENSG00000009724.18 | transcript | ENST00000400897.8 | protein_coding | 8/10 | chr1 | TogoVar | |||||||
MAST1_chr19_12833515_12879952 | 12845411 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00642.hp1 others(31): Show |
a0001a0003a0009 | a0001c0001a0001c0003a0001c0018others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0018t0001others(2): Show | a0001c0001t0001g0006 a0001c0001t0001g0213 a0001c0001t0001g0214 others(30): Show |
34 | 316 | 0.1076 | 9 | c.327 others(26): Show |
MAST1 | ENSG00000105613.10 | transcript | ENST00000251472.9 | protein_coding | 4/25 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MAST2_chr1_45798612_46041122 | 45839129 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01069.hp1 HG01891.hp1 others(20): Show |
a0002a0003a0006others(3): Show | a0002c0002a0002c0007a0002c0009others(8): Show | a0002c0002t0001a0002c0007t0001a0002c0009t0001others(8): Show | a0002c0002t0001g0033 a0002c0002t0001g0039 a0002c0002t0001g0048 others(20): Show |
23 | 288 | 0.0799 | 9 | c.468 others(26): Show |
MAST2 | ENSG00000086015.23 | transcript | ENST00000361297.7 | protein_coding | 3/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAST2_chr1_45798612_46041122 | 45883912 | G | GCCCCCCC others(2): Show |
intron_variant | MODIFIER | HG00733.hp1 HG00735.hp1 HG01099.hp1 others(15): Show |
a0002a0004a0005others(2): Show | a0002c0002a0004c0004a0005c0005others(2): Show | a0002c0002t0001a0004c0004t0001a0005c0005t0001others(2): Show | a0002c0002t0001g0027 a0002c0002t0001g0037 a0002c0002t0001g0040 others(15): Show |
18 | 288 | 0.0625 | 9 | c.500 others(26): Show |
MAST2 | ENSG00000086015.23 | transcript | ENST00000361297.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAST2_chr1_45798612_46041122 | 45888663 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG01257.hp2 others(5): Show |
a0001a0007 | a0001c0001a0001c0027a0007c0008 | a0001c0001t0001a0001c0027t0001a0007c0008t0001 | a0001c0001t0001g0184 a0001c0001t0001g0212 a0001c0001t0001g0220 others(5): Show |
8 | 288 | 0.0278 | 9 | c.500 others(26): Show |
MAST2 | ENSG00000086015.23 | transcript | ENST00000361297.7 | protein_coding | 4/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAST2_chr1_45798612_46041122 | 45994274 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00673.hp2 HG00735.hp2 others(24): Show |
a0001a0007a0009others(1): Show | a0001c0001a0007c0008a0009c0012others(1): Show | a0001c0001t0001a0007c0008t0001a0009c0012t0001others(1): Show | a0001c0001t0001g0145 a0001c0001t0001g0146 a0001c0001t0001g0149 others(24): Show |
27 | 288 | 0.0938 | 9 | c.593 others(26): Show |
MAST2 | ENSG00000086015.23 | transcript | ENST00000361297.7 | protein_coding | 5/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAST2_chr1_45798612_46041122 | 46022579 | T | TCCAGTGA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(28): Show |
a0004a0005a0022others(1): Show | a0004c0004a0004c0011a0005c0005others(2): Show | a0004c0004t0001a0004c0011t0001a0005c0005t0001others(3): Show | a0004c0004t0001g0261 a0004c0004t0001g0262 a0004c0004t0001g0263 others(28): Show |
31 | 288 | 0.1076 | 9 | c.142 others(26): Show |
MAST2 | ENSG00000086015.23 | transcript | ENST00000361297.7 | protein_coding | 12/28 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAST3_chr19_18092778_18156687 | 18101356 | C | CCTCCTCC others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00423.hp2 others(67): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0006a0001c0011others(7): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(12): Show | a0001c0002t0001g0088 a0001c0002t0001g0089 a0001c0002t0001g0094 others(67): Show |
70 | 296 | 0.2365 | 9 | c.39+ others(24): Show |
MAST3 | ENSG00000099308.13 | transcript | ENST00000687212.1 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MAST3_chr19_18092778_18156687 | 18141377 | C | CTTTCTTT others(2): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01981.hp1 HG02148.hp2 others(3): Show |
a0001a0003a0012 | a0001c0023a0003c0009a0012c0024 | a0001c0023t0004a0003c0009t0004a0012c0024t0004 | a0001c0023t0004g0143 a0003c0009t0004g0019 a0003c0009t0004g0020 others(3): Show |
6 | 296 | 0.0203 | 9 | c.220 others(26): Show |
MAST3 | ENSG00000099308.13 | transcript | ENST00000687212.1 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MAST3_chr19_18092778_18156687 | 18141377 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00544.hp1 others(156): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0005a0001c0006others(15): Show | a0001c0002t0004a0001c0005t0005a0001c0005t0006others(23): Show | a0001c0002t0004g0037 a0001c0002t0004g0063 a0001c0002t0004g0146 others(154): Show |
159 | 296 | 0.5372 | 9 | c.220 others(26): Show |
MAST3 | ENSG00000099308.13 | transcript | ENST00000687212.1 | protein_coding | 20/27 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MAST4_chr5_66591393_67174593 | 66767170 | C | CGTTGTGT others(2): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02486.hp2 HG02622.hp1 others(6): Show |
a0001a0004a0016 | a0001c0001a0001c0002a0001c0036others(5): Show | a0001c0001t0008a0001c0002t0019a0001c0036t0012others(6): Show | a0001c0001t0008g0028 a0001c0002t0019g0068 a0001c0036t0012g0015 others(6): Show |
9 | 108 | 0.0833 | 9 | c.517 others(26): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MAST4_chr5_66591393_67174593 | 67033345 | G | GTGTGTGT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01168.hp2 HG01361.hp1 others(7): Show |
a0001a0002a0005others(4): Show | a0001c0001a0002c0004a0005c0006others(4): Show | a0001c0001t0003a0001c0001t0008a0002c0004t0002others(5): Show | a0001c0001t0003g0047 a0001c0001t0003g0051 a0001c0001t0008g0087 others(7): Show |
10 | 108 | 0.0926 | 9 | c.675 others(28): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 4/28 | chr5 | TogoVar | |||||||
MASTL_chr10_27150352_27192953 | 27171410 | A | AATTATTA others(2): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02896.hp1 NA19240.hp2 |
a0002 | a0002c0003 | a0002c0003t0009 | a0002c0003t0009g0035 a0002c0003t0009g0300 |
3 | 398 | 0.0075 | 9 | c.212 others(26): Show |
MASTL | ENSG00000120539.15 | transcript | ENST00000375940.9 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MATCAP2_chr7_36319152_36372240 | 36337098 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00597.hp1 others(40): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0001c0001t0010a0006c0005t0001 | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0030 others(32): Show |
43 | 388 | 0.1108 | 9 | c.715 others(24): Show |
MATCAP2 | ENSG00000164542.13 | transcript | ENST00000440378.6 | protein_coding | 2/6 | chr7 | TogoVar | |||||||
MATN4_chr20_45288450_45313299 | 45305805 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01258.hp2 HG02258.hp2 others(6): Show |
a0001a0003a0008 | a0001c0001a0001c0008a0003c0002others(1): Show | a0001c0001t0001a0001c0008t0005a0003c0002t0001others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0171 a0001c0001t0001g0177 others(3): Show |
9 | 422 | 0.0213 | 9 | c.-34 others(24): Show |
MATN4 | ENSG00000124159.17 | transcript | ENST00000372756.6 | protein_coding | 1/9 | chr20 | TogoVar | |||||||
MATR3_chr5_139288740_139336677 | 139290438 | C | CTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02602.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0017 a0001c0001t0001g0150 a0001c0001t0003g0105 others(2): Show |
6 | 282 | 0.0213 | 9 | c.-35 others(20): Show |
MATR3 | ENSG00000015479.20 | transcript | ENST00000394805.8 | protein_coding | 3301 | chr5 | TogoVar | |||||||
MATR3_chr5_139288740_139336677 | 139311687 | A | AAATTTAA others(2): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02723.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0014 a0001c0001t0007g0101 a0001c0001t0007g0102 |
4 | 282 | 0.0142 | 9 | c.913 others(26): Show |
MATR3 | ENSG00000015479.20 | transcript | ENST00000394805.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MAU2_chr19_19315829_19363754 | 19318113 | C | CTTTTCTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01123.hp1 HG01192.hp2 HG01981.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0005 a0001c0001t0002g0077 a0001c0001t0002g0080 others(15): Show |
19 | 344 | 0.0552 | 9 | c.-27 others(20): Show |
MAU2 | ENSG00000129933.21 | transcript | ENST00000262815.13 | protein_coding | 2715 | chr19 | TogoVar | |||||||
MAVS_chr20_3841834_3881118 | 3854424 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02717.hp1 HG03471.hp2 others(4): Show |
a0001a0007a0011 | a0001c0001a0001c0003a0007c0014others(2): Show | a0001c0001t0001a0001c0001t0025a0001c0003t0022others(3): Show | a0001c0001t0001g0340 a0001c0001t0025g0228 a0001c0003t0022g0138 others(4): Show |
7 | 420 | 0.0167 | 9 | c.-67 others(24): Show |
MAVS | ENSG00000088888.18 | transcript | ENST00000428216.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MB21D2_chr3_192791815_192922856 | 192870699 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00558.hp1 others(88): Show |
a0001a0003a0007others(2): Show | a0001c0001a0001c0002a0003c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0008 others(87): Show |
91 | 298 | 0.3054 | 9 | c.211 others(28): Show |
MB21D2 | ENSG00000180611.7 | transcript | ENST00000392452.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
MBD3L1_chr19_8827377_8848319 | 8838252 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp2 others(47): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0035 others(26): Show |
50 | 428 | 0.1168 | 9 | c.-10 others(28): Show |
MBD3L1 | ENSG00000170948.4 | transcript | ENST00000595891.2 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |