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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MAGI2_chr7_78012055_79458667 | 78499055 | AAACAACA others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG01261.hp1 HG01261.hp2 others(19): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0007 a0001c0001t0001g0017 a0001c0001t0002g0006 others(19): Show |
22 | 40 | 0.5500 | -9 | c.965 others(26): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 5/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 78527006 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG03225.hp2 NA19030.hp2 NA19240.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0002t0005a0001c0003t0002others(1): Show | a0001c0002t0001g0024 a0001c0002t0005g0003 a0001c0003t0002g0012 others(1): Show |
4 | 40 | 0.1000 | -9 | c.539 others(26): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 3/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 78804748 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG00741.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0017 a0001c0002t0001g0025 others(4): Show |
7 | 40 | 0.1750 | -9 | c.419 others(30): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 78853332 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG02965.hp2 HG03209.hp2 HG03225.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0017 a0001c0001t0002g0029 a0001c0002t0001g0009 others(1): Show |
4 | 40 | 0.1000 | -9 | c.418 others(30): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 2/21 | chr7 | TogoVar | |||||||
MAGI2_chr7_78012055_79458667 | 79280926 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG03041.hp1 HG03209.hp2 HG03579.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0007 a0001c0001t0002g0006 a0001c0002t0001g0009 others(2): Show |
5 | 40 | 0.1250 | -9 | c.301 others(30): Show |
MAGI2 | ENSG00000187391.23 | transcript | ENST00000354212.9 | protein_coding | 1/21 | chr7 | TogoVar | |||||||
MAGI3_chr1_113385515_113690923 | 113437855 | TTCTTCTT others(2): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01192.hp1 HG01516.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0050 a0001c0001t0001g0151 a0001c0001t0001g0152 others(6): Show |
9 | 236 | 0.0381 | -9 | c.316 others(28): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAGI3_chr1_113385515_113690923 | 113437877 | TCTCCTTC others(2): Show |
T | intron_variant | MODIFIER | HG00621.hp2 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007 | a0001c0001t0006g0062 a0001c0001t0007g0129 |
2 | 236 | 0.0085 | -9 | c.316 others(28): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAGI3_chr1_113385515_113690923 | 113560405 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp2 HG01070.hp2 HG01099.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0001t0007a0001c0003t0002others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0010 a0001c0001t0001g0018 others(7): Show |
10 | 236 | 0.0424 | -9 | c.433 others(28): Show |
MAGI3 | ENSG00000081026.19 | transcript | ENST00000307546.14 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAGIX_chrX_49157758_49173774 | 49168774 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01934.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0006 | 1 | 260 | 0.0039 | -9 | c.*23 others(20): Show |
MAGIX | ENSG00000269313.6 | transcript | ENST00000595224.6 | protein_coding | 1 | chrX | TogoVar | |||||||
MAGOHB_chr12_10599193_10618609 | 10605087 | TTTATAGT others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00673.hp2 HG01433.hp1 HG02630.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0025a0001c0002t0026 | a0001c0002t0006g0055 a0001c0002t0006g0157 a0001c0002t0006g0158 others(5): Show |
9 | 380 | 0.0237 | -9 | c.*11 others(20): Show |
MAGOHB | ENSG00000111196.10 | transcript | ENST00000320756.7 | protein_coding | 5/5 | 1179 | chr12 | TogoVar | ||||||
MAGT1_chrX_77820747_77900435 | 77876156 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 260 | 0.0039 | -9 | c.103 others(24): Show |
MAGT1 | ENSG00000102158.22 | transcript | ENST00000618282.5 | protein_coding | 1/9 | chrX | TogoVar | |||||||
MAGT1_chrX_77820747_77900435 | 77876158 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0149 a0001c0001t0002g0150 |
2 | 260 | 0.0077 | -9 | c.103 others(24): Show |
MAGT1 | ENSG00000102158.22 | transcript | ENST00000618282.5 | protein_coding | 1/9 | chrX | TogoVar | |||||||
MAGT1_chrX_77820747_77900435 | 77876160 | ATATATTT others(2): Show |
A | intron_variant | MODIFIER | HG02630.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 a0001c0001t0001g0127 |
2 | 260 | 0.0077 | -9 | c.103 others(24): Show |
MAGT1 | ENSG00000102158.22 | transcript | ENST00000618282.5 | protein_coding | 1/9 | chrX | TogoVar | |||||||
MAGT1_chrX_77820747_77900435 | 77888969 | ATATTATT others(2): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0155 a0001c0001t0004g0087 |
2 | 260 | 0.0077 | -9 | c.102 others(26): Show |
MAGT1 | ENSG00000102158.22 | transcript | ENST00000618282.5 | protein_coding | 1/9 | chrX | TogoVar | |||||||
MAG_chr19_35287161_35318807 | 35297502 | AACACACA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG03239.hp1 NA21309.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0004a0001c0003t0002 | a0001c0002t0004g0059 a0001c0003t0002g0229 a0001c0003t0002g0230 |
3 | 434 | 0.0069 | -9 | c.415 others(26): Show |
MAG | ENSG00000105695.15 | transcript | ENST00000392213.8 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
MAJIN_chr11_64933230_64977108 | 64972900 | CAGTGAGC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01934.hp2 HG02257.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(8): Show |
12 | 384 | 0.0313 | -9 | c.-10 others(20): Show |
MAJIN | ENSG00000168070.12 | transcript | ENST00000301896.6 | protein_coding | 793 | chr11 | TogoVar | |||||||
MAK16_chr8_33480182_33506262 | 33481073 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG01192.hp1 HG02451.hp2 others(5): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0005a0003c0003t0004 | a0002c0002t0005g0025 a0002c0002t0005g0026 a0002c0002t0005g0114 others(5): Show |
8 | 400 | 0.0200 | -9 | c.-41 others(20): Show |
MAK16 | ENSG00000198042.11 | transcript | ENST00000360128.11 | protein_coding | 4108 | chr8 | TogoVar | |||||||
MAK16_chr8_33480182_33506262 | 33495685 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG01070.hp1 others(51): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0008a0002c0002t0012others(3): Show | a0002c0002t0002g0002 a0002c0002t0002g0011 a0002c0002t0002g0046 others(16): Show |
54 | 400 | 0.1350 | -9 | c.522 others(24): Show |
MAK16 | ENSG00000198042.11 | transcript | ENST00000360128.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MAK_chr6_10757723_10843539 | 10806505 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0030 a0001c0001t0001g0168 a0001c0001t0001g0187 others(3): Show |
6 | 272 | 0.0221 | -9 | c.491 others(26): Show |
MAK | ENSG00000111837.12 | transcript | ENST00000354489.7 | protein_coding | 6/14 | chr6 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19152744 | TTTACAAT others(2): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02717.hp1 HG02897.hp2 others(1): Show |
a0022a0057a0065others(1): Show | a0022c0092a0057c0094a0065c0093others(1): Show | a0022c0092t0001a0057c0094t0001a0065c0093t0001others(1): Show | a0022c0092t0001g0017 a0057c0094t0001g0105 a0065c0093t0001g0015 others(1): Show |
4 | 152 | 0.0263 | -9 | c.155 others(28): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 11/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19211684 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG01074.hp2 HG01081.hp1 others(41): Show |
a0001a0003a0004others(31): Show | a0001c0001a0001c0076a0003c0020others(37): Show | a0001c0001t0001a0001c0076t0002a0003c0020t0001others(38): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0076t0002g0075 others(41): Show |
44 | 152 | 0.2895 | -9 | c.299 others(28): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 18/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19463380 | ATGCATCC others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp1 others(121): Show |
a0001a0002a0003others(79): Show | a0001c0001a0001c0003a0001c0120others(95): Show | a0001c0001t0001a0001c0003t0001a0001c0120t0001others(100): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0054 others(121): Show |
124 | 152 | 0.8158 | -9 | c.502 others(30): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 29/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19511905 | TTTTGGGG others(2): Show |
T | intron_variant | MODIFIER | HG02071.hp2 HG02132.hp2 NA18957.hp2 others(1): Show |
a0026a0028a0046others(1): Show | a0026c0098a0028c0060a0046c0057others(1): Show | a0026c0098t0001a0028c0060t0001a0046c0057t0001others(1): Show | a0026c0098t0001g0040 a0028c0060t0001g0027 a0046c0057t0001g0150 others(1): Show |
4 | 152 | 0.0263 | -9 | c.532 others(30): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 31/39 | chr10 | TogoVar | |||||||
MALRD1_chr10_19043801_19739478 | 19638101 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG02280.hp2 others(6): Show |
a0013a0017a0051others(5): Show | a0013c0019a0017c0017a0051c0022others(5): Show | a0013c0019t0002a0017c0017t0001a0051c0022t0002others(5): Show | a0013c0019t0002g0071 a0013c0019t0002g0072 a0017c0017t0001g0107 others(6): Show |
9 | 152 | 0.0592 | -9 | c.613 others(30): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 36/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19699277 | AGAAAGGA others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG02602.hp1 HG03486.hp2 others(1): Show |
a0031a0058a0081others(1): Show | a0031c0085a0058c0080a0081c0070others(1): Show | a0031c0085t0001a0058c0080t0001a0081c0070t0001others(1): Show | a0031c0085t0001g0052 a0058c0080t0001g0058 a0081c0070t0001g0149 others(1): Show |
4 | 152 | 0.0263 | -9 | c.631 others(28): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 38/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MALRD1_chr10_19043801_19739478 | 19718119 | AGAAGAAG others(2): Show |
A | intron_variant | MODIFIER | NA18957.hp2 NA18988.hp1 NA19088.hp1 |
a0001a0026 | a0001c0003a0026c0098 | a0001c0003t0001a0026c0098t0001 | a0001c0003t0001g0114 a0001c0003t0001g0115 a0026c0098t0001g0040 |
3 | 152 | 0.0197 | -9 | c.631 others(30): Show |
MALRD1 | ENSG00000204740.11 | transcript | ENST00000454679.7 | protein_coding | 38/39 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MAML1_chr5_179727822_179782283 | 179745859 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02572.hp2 others(8): Show |
a0001a0005a0007 | a0001c0004a0005c0008a0007c0028others(1): Show | a0001c0004t0001a0005c0008t0001a0007c0028t0001others(1): Show | a0001c0004t0001g0035 a0001c0004t0001g0036 a0001c0004t0001g0037 others(8): Show |
11 | 360 | 0.0306 | -9 | c.315 others(28): Show |
MAML1 | ENSG00000161021.13 | transcript | ENST00000292599.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
MAML2_chr11_95971598_96348195 | 96019671 | CTGATAAT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp2 others(62): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0131 others(62): Show |
65 | 230 | 0.2826 | -9 | c.214 others(30): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
MAML2_chr11_95971598_96348195 | 96019676 | AATAATAA others(2): Show |
A | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG02145.hp1 others(1): Show |
a0001a0008 | a0001c0001a0008c0015 | a0001c0001t0005a0001c0001t0045a0008c0015t0002 | a0001c0001t0005g0017 a0001c0001t0045g0224 a0008c0015t0002g0046 others(1): Show |
4 | 230 | 0.0174 | -9 | c.214 others(30): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
MAML2_chr11_95971598_96348195 | 96041506 | AGGAAGGA others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00558.hp1 others(91): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(50): Show | a0001c0001t0001g0131 a0001c0001t0001g0140 a0001c0001t0001g0148 others(91): Show |
94 | 230 | 0.4087 | -9 | c.214 others(30): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/4 | chr11 | TogoVar | |||||||
MAML2_chr11_95971598_96348195 | 96092210 | TTGCTGCT others(2): Show |
T | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(179): Show |
a0001a0006a0009others(6): Show | a0001c0001a0001c0002a0001c0004others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0102 a0001c0001t0001g0103 a0001c0001t0001g0105 others(179): Show |
182 | 230 | 0.7913 | -9 | c.181 others(18): Show |
p.Gln others(13): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/5 | 3120/7121 | 1812/3471 | 604/1156 | chr11 | TogoVar | |||
MAML2_chr11_95971598_96348195 | 96121950 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00738.hp1 HG00741.hp2 HG01109.hp2 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0002a0002c0010a0004c0007others(1): Show | a0001c0002t0001a0001c0002t0011a0001c0002t0013others(6): Show | a0001c0002t0001g0097 a0001c0002t0011g0181 a0001c0002t0011g0182 others(8): Show |
11 | 230 | 0.0478 | -9 | c.514 others(28): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
MAML3_chr4_139711753_140159184 | 139822225 | TCACCACC others(2): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG06807.hp2 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0010a0001c0011t0001 | a0001c0002t0010g0097 a0001c0011t0001g0103 |
2 | 152 | 0.0132 | -9 | c.207 others(30): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
MAML3_chr4_139711753_140159184 | 139863832 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00639.hp2 others(33): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0030a0001c0001t0045a0001c0002t0001others(24): Show | a0001c0001t0030g0022 a0001c0001t0045g0147 a0001c0002t0001g0098 others(33): Show |
36 | 152 | 0.2368 | -9 | c.207 others(30): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 2/4 | chr4 | TogoVar | |||||||
MAML3_chr4_139711753_140159184 | 139889909 | TTGCTGCT others(2): Show |
T | disruptive_inframe_deletion | MODERATE | HG01243.hp2 HG02630.hp2 HG02809.hp1 others(5): Show |
a0006 | a0006c0007a0006c0014 | a0006c0007t0006a0006c0007t0013a0006c0007t0014others(5): Show | a0006c0007t0006g0122 a0006c0007t0013g0146 a0006c0007t0014g0139 others(5): Show |
8 | 152 | 0.0526 | -9 | c.151 others(18): Show |
p.Gln others(13): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 2/5 | 2383/6844 | 1518/3417 | 506/1138 | chr4 | TogoVar | |||
MAML3_chr4_139711753_140159184 | 140069354 | GAGAAGGA others(2): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01069.hp2 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0004a0002c0003a0003c0006others(4): Show | a0001c0004t0001a0001c0004t0002a0002c0003t0015others(7): Show | a0001c0004t0001g0016 a0001c0004t0001g0017 a0001c0004t0002g0024 others(9): Show |
12 | 152 | 0.0790 | -9 | c.468 others(28): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
MAML3_chr4_139711753_140159184 | 140069421 | GGAAGGAG others(2): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00642.hp1 HG00741.hp1 others(39): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0004others(15): Show | a0001c0001t0018a0001c0001t0020a0001c0002t0001others(30): Show | a0001c0001t0018g0111 a0001c0001t0018g0114 a0001c0001t0020g0120 others(39): Show |
42 | 152 | 0.2763 | -9 | c.468 others(28): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
MAML3_chr4_139711753_140159184 | 140147131 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02895.hp2 HG02897.hp1 others(4): Show |
a0001a0002a0004others(1): Show | a0001c0002a0002c0003a0004c0005others(1): Show | a0001c0002t0016a0001c0002t0026a0002c0003t0015others(3): Show | a0001c0002t0016g0006 a0001c0002t0016g0007 a0001c0002t0026g0002 others(4): Show |
7 | 152 | 0.0461 | -9 | c.468 others(26): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 1/4 | chr4 | TogoVar | |||||||
MAMLD1_chrX_150358317_150519173 | 150394129 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 226 | 0.0044 | -9 | c.-64 others(28): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAMLD1_chrX_150358317_150519173 | 150398252 | GAGAAGAA others(2): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00544.hp1 others(9): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0008 a0001c0001t0001g0110 a0001c0001t0001g0172 others(9): Show |
12 | 226 | 0.0531 | -9 | c.-64 others(28): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAMLD1_chrX_150358317_150519173 | 150398334 | AGAAGAAG others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp1 HG02622.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0071 a0001c0001t0001g0127 a0001c0001t0001g0145 others(9): Show |
12 | 226 | 0.0531 | -9 | c.-64 others(28): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAMLD1_chrX_150358317_150519173 | 150398340 | AGAGGAAG others(2): Show |
A | intron_variant | MODIFIER | HG02273.hp2 HG02723.hp2 HG03195.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0028 a0001c0001t0001g0085 a0001c0001t0001g0210 others(1): Show |
4 | 226 | 0.0177 | -9 | c.-64 others(28): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAMLD1_chrX_150358317_150519173 | 150398376 | AGAAGAAG others(2): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 a0001c0001t0001g0107 |
2 | 226 | 0.0089 | -9 | c.-64 others(28): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MAMLD1_chrX_150358317_150519173 | 150403926 | ACAGAGAA others(2): Show |
A | intron_variant | MODIFIER | HG02559.hp1 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0072 a0001c0001t0003g0196 |
2 | 226 | 0.0089 | -9 | c.-64 others(28): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 1/7 | chrX | TogoVar | |||||||
MAN1A1_chr6_119172205_119354761 | 119275277 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00558.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0216 a0001c0001t0001g0217 a0001c0001t0001g0218 others(10): Show |
13 | 350 | 0.0371 | -9 | c.897 others(28): Show |
MAN1A1 | ENSG00000111885.7 | transcript | ENST00000368468.4 | protein_coding | 5/12 | chr6 | TogoVar | |||||||
MAN1C1_chr1_25611791_25789450 | 25731336 | GTCATCAT others(2): Show |
G | intron_variant | MODIFIER | HG02572.hp2 HG02622.hp1 NA21309.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0219 a0001c0002t0001g0225 a0001c0004t0001g0142 |
3 | 250 | 0.0120 | -9 | c.638 others(28): Show |
MAN1C1 | ENSG00000117643.16 | transcript | ENST00000374332.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAN1C1_chr1_25611791_25789450 | 25740419 | TTTGTTGT others(2): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02615.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0008 | a0001c0001t0001g0120 a0001c0002t0001g0206 a0001c0002t0001g0234 others(2): Show |
5 | 250 | 0.0200 | -9 | c.638 others(26): Show |
MAN1C1 | ENSG00000117643.16 | transcript | ENST00000374332.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAN2A1_chr5_109684927_109874625 | 109871841 | TAAAAAAA others(2): Show |
T | downstream_gene_variant | MODIFIER | HG01123.hp2 HG02055.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0005a0001c0004t0029others(1): Show | a0001c0001t0001g0078 a0001c0001t0001g0092 a0001c0001t0001g0096 others(5): Show |
8 | 296 | 0.0270 | -9 | c.*48 others(20): Show |
MAN2A1 | ENSG00000112893.10 | transcript | ENST00000261483.5 | protein_coding | 2217 | chr5 | TogoVar | |||||||
MAN2A2_chr15_90898302_90927579 | 90925248 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG01243.hp1 HG02145.hp1 HG02280.hp1 others(10): Show |
a0001a0002a0009 | a0001c0001a0002c0007a0009c0012 | a0001c0001t0001a0001c0001t0005a0001c0001t0024others(2): Show | a0001c0001t0001g0006 a0001c0001t0005g0005 a0001c0001t0005g0006 others(5): Show |
13 | 416 | 0.0313 | -9 | c.*54 others(20): Show |
MAN2A2 | ENSG00000196547.15 | transcript | ENST00000559717.6 | protein_coding | 2670 | chr15 | TogoVar | |||||||
MAN2B1_chr19_12641512_12671742 | 12650869 | TCCATGTT others(2): Show |
T | intron_variant | MODIFIER | HG01123.hp1 HG01891.hp1 HG02257.hp2 others(19): Show |
a0003a0004a0006others(1): Show | a0003c0003a0004c0005a0004c0019others(2): Show | a0003c0003t0001a0004c0005t0001a0004c0019t0001others(2): Show | a0003c0003t0001g0046 a0004c0005t0001g0196 a0004c0005t0001g0205 others(17): Show |
22 | 380 | 0.0579 | -9 | c.204 others(26): Show |
MAN2B1 | ENSG00000104774.13 | transcript | ENST00000456935.7 | protein_coding | 16/23 | chr19 | TogoVar |