| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| MAGEL2_chr15_23638549_23652867 | 23646357 | GGGGGCCT others(14): Show |
G | disruptive_inframe_deletion | MODERATE | HG03490.hp1 HG03688.hp1 |
a0010 | a0010c0020 | a0010c0020t0001 | a0010c0020t0001g0000 | 2 | 436 | 0.0046 | -21 | c.136 others(30): Show |
p.Pro others(13): Show |
MAGEL2 | ENSG00000254585.5 | transcript | ENST00000650528.1 | protein_coding | 1/1 | 1510/4319 | 1365/3750 | 455/1249 | chr15 | TogoVar | ||
| MAGEL2_chr15_23638549_23652867 | 23646456 | CGGTGGTG others(14): Show |
C | disruptive_inframe_deletion | MODERATE | NA18957.hp2 | a0028 | a0028c0035 | a0028c0035t0001 | a0028c0035t0001g0000 | 1 | 436 | 0.0023 | -21 | c.126 others(30): Show |
p.Ile others(13): Show |
MAGEL2 | ENSG00000254585.5 | transcript | ENST00000650528.1 | protein_coding | 1/1 | 1411/4319 | 1266/3750 | 422/1249 | chr15 | TogoVar | ||
| MAGI1_chr3_65348526_66043918 | 65439904 | CTGCTGCT others(5): Show |
C | disruptive_inframe_deletion | MODERATE | NA19240.hp2 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0067 | 1 | 104 | 0.0096 | -12 | c.123 others(21): Show |
p.Gln others(13): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 9/23 | 1854/7851 | 1233/4389 | 411/1462 | chr3 | TogoVar | ||
| MALT1_chr18_58666465_58759477 | 58671683 | TCGGCCGC others(26): Show |
T | disruptive_inframe_deletion | MODERATE | HG02027.hp2 | a0006 | a0006c0009 | a0006c0009t0014 | a0006c0009t0014g0239 | 1 | 406 | 0.0025 | -33 | c.47_ others(38): Show |
p.Ala others(11): Show |
MALT1 | ENSG00000172175.16 | transcript | ENST00000649217.2 | protein_coding | 1/17 | 226/9289 | 47/2475 | 16/824 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |
| MAMDC4_chr9_136847346_136865799 | 136855250 | TCAGATCC others(11): Show |
T | disruptive_inframe_deletion others(1): Show |
MODERATE | HG02040.hp2 | a0030 | a0030c0038 | a0030c0038t0001 | a0030c0038t0001g0031 | 1 | 350 | 0.0029 | -18 | c.119 others(27): Show |
p.Ile others(13): Show |
MAMDC4 | ENSG00000177943.14 | transcript | ENST00000317446.7 | protein_coding | 11/27 | 1270/3681 | 1199/3414 | 400/1137 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
| MAML2_chr11_95971598_96348195 | 96092039 | TTGC | T | disruptive_inframe_deletion | MODERATE | HG01109.hp2 HG01243.hp1 HG01891.hp2 others(6): Show |
a0005a0006 | a0005c0007a0006c0009 | a0005c0007t0002a0005c0007t0005a0005c0007t0007others(6): Show | a0005c0007t0002g0064a0005c0007t0005g0005a0005c0007t0007g0071others(6): Show | 9 | 230 | 0.0391 | -3 | c.198 others(12): Show |
p.Gln others(6): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/5 | 3291/7121 | 1989/3471 | 663/1156 | chr11 | TogoVar | ||
| MAML2_chr11_95971598_96348195 | 96092210 | TTGCTGC | T | disruptive_inframe_deletion | MODERATE | HG00639.hp2 HG01069.hp1 HG02300.hp2 others(9): Show |
a0004a0016 | a0004c0005a0004c0008a0016c0023 | a0004c0005t0004a0004c0005t0007a0004c0005t0041others(4): Show | a0004c0005t0004g0156a0004c0005t0004g0177a0004c0005t0007g0015others(9): Show | 12 | 230 | 0.0522 | -6 | c.181 others(15): Show |
p.Gln others(13): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/5 | 3120/7121 | 1815/3471 | 605/1156 | 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 |
a0001a0003a0007others(10): Show | a0001c0001a0001c0002a0001c0013others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0102a0001c0001t0001g0103a0001c0001t0001g0105others(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 | 96092210 | TTGCTGCT others(5): Show |
T | disruptive_inframe_deletion | MODERATE | HG01109.hp2 HG01243.hp1 HG01891.hp2 others(6): Show |
a0005a0006 | a0005c0007a0006c0009 | a0005c0007t0002a0005c0007t0005a0005c0007t0007others(6): Show | a0005c0007t0002g0064a0005c0007t0005g0005a0005c0007t0007g0071others(6): Show | 9 | 230 | 0.0391 | -12 | c.180 others(21): Show |
p.Gln others(13): Show |
MAML2 | ENSG00000184384.15 | transcript | ENST00000524717.6 | protein_coding | 2/5 | 3120/7121 | 1809/3471 | 603/1156 | chr11 | TogoVar | ||
| MAML3_chr4_139711753_140159184 | 139889909 | TTGC | T | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG02055.hp1 HG02132.hp1 others(18): Show |
a0002 | a0002c0003a0002c0018 | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(7): Show | a0002c0003t0001g0070a0002c0003t0001g0074a0002c0003t0001g0086others(18): Show | 21 | 152 | 0.1382 | -3 | c.152 others(12): Show |
p.Gln others(6): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 2/5 | 2383/6844 | 1524/3417 | 508/1138 | chr4 | TogoVar | ||
| MAML3_chr4_139711753_140159184 | 139889909 | TTGCTGC | T | disruptive_inframe_deletion | MODERATE | HG01070.hp1 HG01071.hp1 HG01981.hp2 others(11): Show |
a0003a0013 | a0003c0005a0013c0017 | a0003c0005t0001a0003c0005t0002a0003c0005t0003others(8): Show | a0003c0005t0001g0053a0003c0005t0001g0066a0003c0005t0002g0067others(11): Show | 14 | 152 | 0.0921 | -6 | c.152 others(15): Show |
p.Gln others(13): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 2/5 | 2383/6844 | 1521/3417 | 507/1138 | 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 |
a0005 | a0005c0007a0005c0014 | a0005c0007t0006a0005c0007t0013a0005c0007t0014others(5): Show | a0005c0007t0006g0122a0005c0007t0013g0146a0005c0007t0014g0139others(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 | 139889909 | TTGCTGCT others(5): Show |
T | disruptive_inframe_deletion | MODERATE | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(91): Show |
a0001a0004a0010others(3): Show | a0001c0001a0001c0002a0001c0004others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(53): Show | a0001c0001t0001g0018a0001c0001t0001g0023a0001c0001t0001g0028others(91): Show | 94 | 152 | 0.6184 | -12 | c.151 others(21): Show |
p.Gln others(13): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 2/5 | 2383/6844 | 1515/3417 | 505/1138 | chr4 | TogoVar | ||
| MAML3_chr4_139711753_140159184 | 139889909 | TTGCTGCT others(8): Show |
T | disruptive_inframe_deletion | MODERATE | HG02258.hp1 | a0016 | a0016c0028 | a0016c0028t0001 | a0016c0028t0001g0059 | 1 | 152 | 0.0066 | -15 | c.151 others(24): Show |
p.Gln others(13): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 2/5 | 2383/6844 | 1512/3417 | 504/1138 | chr4 | TogoVar | ||
| MAML3_chr4_139711753_140159184 | 139889909 | TTGCTGCT others(14): Show |
T | disruptive_inframe_deletion | MODERATE | HG00735.hp2 HG01891.hp1 HG02976.hp2 others(1): Show |
a0007 | a0007c0009 | a0007c0009t0014a0007c0009t0023a0007c0009t0036others(1): Show | a0007c0009t0014g0143a0007c0009t0023g0141a0007c0009t0036g0110others(1): Show | 4 | 152 | 0.0263 | -21 | c.150 others(30): Show |
p.Gln others(13): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 2/5 | 2383/6844 | 1506/3417 | 502/1138 | chr4 | TogoVar | ||
| MAML3_chr4_139711753_140159184 | 139889909 | TTGCTGCT others(26): Show |
T | disruptive_inframe_deletion | MODERATE | HG03209.hp1 | a0009 | a0009c0016 | a0009c0016t0002 | a0009c0016t0002g0009 | 1 | 152 | 0.0066 | -33 | c.149 others(42): Show |
p.Gln others(13): Show |
MAML3 | ENSG00000196782.13 | transcript | ENST00000509479.6 | protein_coding | 2/5 | 2383/6844 | 1494/3417 | 498/1138 | chr4 | TogoVar | ||
| MAMLD1_chrX_150358317_150519173 | 150471052 | ACAG | A | disruptive_inframe_deletion | MODERATE | NA18943.hp1 | a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0147 | 1 | 226 | 0.0044 | -3 | c.150 others(12): Show |
p.Gln others(6): Show |
MAMLD1 | ENSG00000013619.15 | transcript | ENST00000370401.7 | protein_coding | 4/8 | 1780/4816 | 1503/2325 | 501/774 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |
| MAN2A1_chr5_109684927_109874625 | 109855234 | TCTC | T | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00438.hp2 HG00597.hp2 others(78): Show |
a0002a0007a0008 | a0002c0002a0002c0017a0007c0014others(1): Show | a0002c0002t0002a0002c0002t0009a0002c0002t0011others(10): Show | a0002c0002t0002g0006a0002c0002t0002g0178a0002c0002t0002g0189others(77): Show | 81 | 296 | 0.2737 | -3 | c.307 others(12): Show |
p.Ser others(7): Show |
MAN2A1 | ENSG00000112893.10 | transcript | ENST00000261483.5 | protein_coding | 20/22 | 3566/6553 | 3075/3435 | 1025/1144 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| MAP1A_chr15_43512608_43536611 | 43525606 | AGGT | A | disruptive_inframe_deletion | MODERATE | HG02071.hp2 HG02148.hp1 HG02155.hp1 others(14): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0006a0004c0004t0001g0014a0004c0004t0001g0039 | 17 | 340 | 0.0500 | -3 | c.413 others(12): Show |
p.Val others(7): Show |
MAP1A | ENSG00000166963.13 | transcript | ENST00000300231.6 | protein_coding | 4/6 | 4604/10266 | 4137/8412 | 1379/2803 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| MAP3K10_chr19_40186426_40220575 | 40213998 | GCCCTCCC others(5): Show |
G | disruptive_inframe_deletion | MODERATE | HG02055.hp2 | a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0010 | 1 | 398 | 0.0025 | -12 | c.232 others(21): Show |
p.Pro others(13): Show |
MAP3K10 | ENSG00000130758.8 | transcript | ENST00000253055.8 | protein_coding | 9/10 | 2934/3754 | 2328/2865 | 776/954 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| MAP3K4_chr6_160986769_161122380 | 161098318 | CCTG | C | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(327): Show |
a0001a0002a0004others(10): Show | a0001c0001a0001c0005a0001c0007others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0010others(316): Show | 330 | 342 | 0.9649 | -3 | c.359 others(12): Show |
p.Ala others(7): Show |
MAP3K4 | ENSG00000085511.20 | transcript | ENST00000392142.9 | protein_coding | 17/27 | 3759/5500 | 3596/4827 | 1199/1608 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| MAP3K4_chr6_160986769_161122380 | 161098318 | CCTGCTGC others(5): Show |
C | disruptive_inframe_deletion | MODERATE | NA18906.hp1 NA19043.hp1 |
a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0007 | 2 | 342 | 0.0059 | -12 | c.358 others(21): Show |
p.Ala others(15): Show |
MAP3K4 | ENSG00000085511.20 | transcript | ENST00000392142.9 | protein_coding | 17/27 | 3750/5500 | 3587/4827 | 1196/1608 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |
| MAP7_chr6_136337734_136555422 | 136360785 | GCTT | G | disruptive_inframe_deletion | MODERATE | HG02451.hp2 HG02723.hp2 HG02809.hp1 others(3): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0080a0004c0004t0001g0096a0004c0004t0001g0118others(3): Show | 6 | 248 | 0.0242 | -3 | c.171 others(12): Show |
p.Glu others(6): Show |
MAP7 | ENSG00000135525.19 | transcript | ENST00000354570.8 | protein_coding | 13/18 | 1728/3758 | 1712/2250 | 571/749 | chr6 | TogoVar | ||
| MAPK8IP1_chr11_45880651_45911465 | 45900248 | CGAGGACG others(5): Show |
C | disruptive_inframe_deletion | MODERATE | HG00438.hp2 | a0005 | a0005c0010 | a0005c0010t0001 | a0005c0010t0001g0073 | 1 | 392 | 0.0026 | -12 | c.330 others(19): Show |
p.Glu others(13): Show |
MAPK8IP1 | ENSG00000121653.11 | transcript | ENST00000241014.6 | protein_coding | 3/12 | 500/3050 | 330/2136 | 110/711 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |
| MAPKAPK3_chr3_50612151_50654291 | 50642241 | CTGTTTCT others(29): Show |
C | splice_acceptor_variant others(3): Show |
HIGH | HG01081.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0092 | 1 | 326 | 0.0031 | -36 | c.425 others(45): Show |
p.Glu others(13): Show |
MAPKAPK3 | ENSG00000114738.11 | transcript | ENST00000621469.5 | protein_coding | 5/11 | 425/1149 | 142/382 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||
| MARCOL_chr5_148233525_148248580 | 148243107 | GGGGAAGC others(20): Show |
G | disruptive_inframe_deletion | MODERATE | HG01243.hp1 HG02145.hp1 HG03225.hp1 |
a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0021a0006c0006t0002g0022a0006c0006t0002g0023 | 3 | 418 | 0.0072 | -27 | c.725 others(34): Show |
p.Leu others(13): Show |
MARCOL | ENSG00000248109.3 | transcript | ENST00000638089.2 | protein_coding | 2/2 | 798/1257 | 725/858 | 242/285 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| MAST4_chr5_66591393_67174593 | 67166219 | AACAGACA others(8): Show |
A | disruptive_inframe_deletion | MODERATE | HG01891.hp1 | a0013 | a0013c0027 | a0013c0027t0009 | a0013c0027t0009g0031 | 1 | 108 | 0.0093 | -15 | c.705 others(24): Show |
p.Asn others(15): Show |
MAST4 | ENSG00000069020.19 | transcript | ENST00000403625.7 | protein_coding | 29/29 | 7316/10677 | 7053/7872 | 2351/2623 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
| MAU2_chr19_19315829_19363754 | 19320880 | AGCGGCCC others(8): Show |
A | disruptive_inframe_deletion | MODERATE | HG00099.hp1 | a0002 | a0002c0010 | a0002c0010t0005 | a0002c0010t0005g0115 | 1 | 344 | 0.0029 | -15 | c.33_ others(20): Show |
p.Ala others(11): Show |
MAU2 | ENSG00000129933.21 | transcript | ENST00000262815.13 | protein_coding | 1/19 | 64/4845 | 33/1842 | 11/613 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| MAZ_chr16_29801529_29816164 | 29810099 | GGCGGCGG others(8): Show |
G | disruptive_inframe_deletion | MODERATE | HG02735.hp2 HG03017.hp1 |
a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0001 | 2 | 282 | 0.0071 | -15 | c.132 others(24): Show |
p.Ala others(13): Show |
MAZ | ENSG00000103495.15 | transcript | ENST00000322945.11 | protein_coding | 5/5 | 1493/2540 | 1320/1434 | 440/477 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| MAZ_chr16_29801529_29816164 | 29810105 | GGCAGCGG others(2): Show |
G | disruptive_inframe_deletion | MODERATE | HG02165.hp2 HG02602.hp1 HG02683.hp2 others(2): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0004a0002c0004t0014 | a0002c0004t0001g0001a0002c0004t0001g0014a0002c0004t0004g0001others(1): Show | 5 | 282 | 0.0177 | -9 | c.131 others(18): Show |
p.Ala others(13): Show |
MAZ | ENSG00000103495.15 | transcript | ENST00000322945.11 | protein_coding | 5/5 | 1484/2540 | 1311/1434 | 437/477 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |
| MCAM_chr11_119303529_119322130 | 119312056 | TCTC | T | disruptive_inframe_deletion | MODERATE | HG02622.hp1 HG02886.hp1 HG02922.hp2 |
a0004a0011 | a0004c0008a0011c0017 | a0004c0008t0008a0004c0008t0043a0011c0017t0092 | a0004c0008t0008g0179a0004c0008t0043g0180a0011c0017t0092g0181 | 3 | 482 | 0.0062 | -3 | c.113 others(12): Show |
p.Arg others(19): Show |
MCAM | ENSG00000076706.17 | transcript | ENST00000264036.6 | protein_coding | 9/16 | 1167/3327 | 1136/1941 | 379/646 | chr11 | TogoVar | ||
| MED15_chr22_20502610_20592619 | 20564628 | CCAG | C | disruptive_inframe_deletion | MODERATE | HG03579.hp1 NA18522.hp1 NA21309.hp1 |
a0005a0009 | a0005c0011a0009c0024 | a0005c0011t0001a0009c0024t0001 | a0005c0011t0001g0139a0005c0011t0001g0140a0009c0024t0001g0311 | 3 | 341 | 0.0088 | -3 | c.654 others(10): Show |
p.Gln others(6): Show |
MED15 | ENSG00000099917.17 | transcript | ENST00000263205.11 | protein_coding | 6/18 | 723/3351 | 654/2367 | 218/788 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
| MEF2A_chr15_99560984_99721488 | 99712504 | CCAG | C | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00408.hp2 HG00423.hp2 others(69): Show |
a0003a0014 | a0003c0003a0003c0010a0003c0013others(3): Show | a0003c0003t0002a0003c0003t0006a0003c0003t0010others(28): Show | a0003c0003t0002g0054a0003c0003t0002g0293a0003c0003t0002g0294others(69): Show | 72 | 376 | 0.1915 | -3 | c.128 others(12): Show |
p.Gln others(6): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 12/12 | 1628/5580 | 1283/1518 | 428/505 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| MEF2A_chr15_99560984_99721488 | 99712504 | CCAGCAG | C | disruptive_inframe_deletion | MODERATE | HG00140.hp2 HG00323.hp1 HG00558.hp1 others(83): Show |
a0002a0005 | a0002c0002a0002c0011a0002c0014others(2): Show | a0002c0002t0005a0002c0002t0007a0002c0002t0008others(46): Show | a0002c0002t0005g0057a0002c0002t0005g0101a0002c0002t0005g0102others(83): Show | 86 | 376 | 0.2287 | -6 | c.128 others(15): Show |
p.Gln others(13): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 12/12 | 1625/5580 | 1280/1518 | 427/505 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| MEF2A_chr15_99560984_99721488 | 99712504 | CCAGCAGC others(2): Show |
C | disruptive_inframe_deletion | MODERATE | HG00609.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
a0006 | a0006c0015 | a0006c0015t0004a0006c0015t0101 | a0006c0015t0004g0154a0006c0015t0004g0155a0006c0015t0004g0269others(1): Show | 4 | 376 | 0.0106 | -9 | c.127 others(18): Show |
p.Gln others(13): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 12/12 | 1622/5580 | 1277/1518 | 426/505 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| MEF2A_chr15_99560984_99721488 | 99712504 | CCAGCAGC others(5): Show |
C | disruptive_inframe_deletion | MODERATE | HG03486.hp2 NA18947.hp2 NA19083.hp1 |
a0009 | a0009c0021a0009c0037 | a0009c0021t0001a0009c0037t0003 | a0009c0021t0001g0122a0009c0021t0001g0126a0009c0037t0003g0015 | 3 | 376 | 0.0080 | -12 | c.127 others(21): Show |
p.Gln others(13): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 12/12 | 1619/5580 | 1274/1518 | 425/505 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| MEF2A_chr15_99560984_99721488 | 99712504 | CCAGCAGC others(11): Show |
C | disruptive_inframe_deletion | MODERATE | NA19058.hp2 | a0012 | a0012c0033 | a0012c0033t0094 | a0012c0033t0094g0267 | 1 | 376 | 0.0027 | -18 | c.126 others(27): Show |
p.Gln others(13): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 12/12 | 1613/5580 | 1268/1518 | 423/505 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| MEF2A_chr15_99560984_99721488 | 99712504 | CCAGCAGC others(14): Show |
C | disruptive_inframe_deletion | MODERATE | NA18961.hp1 NA18967.hp2 NA19064.hp1 |
a0008 | a0008c0018 | a0008c0018t0002a0008c0018t0129 | a0008c0018t0002g0320a0008c0018t0002g0338a0008c0018t0129g0329 | 3 | 376 | 0.0080 | -21 | c.126 others(30): Show |
p.Gln others(13): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 12/12 | 1610/5580 | 1265/1518 | 422/505 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| MEF2A_chr15_99560984_99721488 | 99712522 | GCAGCAGC others(29): Show |
G | disruptive_inframe_deletion | MODERATE | HG03492.hp2 | a0013 | a0013c0032 | a0013c0032t0005 | a0013c0032t0005g0166 | 1 | 376 | 0.0027 | -36 | c.127 others(45): Show |
p.Gln others(13): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 12/12 | 1619/5580 | 1274/1518 | 425/505 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| MEF2A_chr15_99560984_99721488 | 99712536 | AGCC | A | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00597.hp2 HG01071.hp1 others(7): Show |
a0005a0011 | a0005c0009a0011c0023a0011c0027 | a0005c0009t0019a0005c0009t0031a0005c0009t0037others(4): Show | a0005c0009t0019g0003a0005c0009t0019g0070a0005c0009t0019g0071others(7): Show | 10 | 376 | 0.0266 | -3 | c.129 others(12): Show |
p.Pro others(6): Show |
MEF2A | ENSG00000068305.19 | transcript | ENST00000557942.6 | protein_coding | 12/12 | 1635/5580 | 1290/1518 | 430/505 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| MEF2B_chr19_19140567_19175263 | 19147006 | CTCACCCC others(40): Show |
C | splice_donor_variant others(3): Show |
HIGH | NA18989.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0240 | 1 | 404 | 0.0025 | -47 | c.524 others(57): Show |
p.Pro others(19): Show |
MEF2B | ENSG00000213999.17 | transcript | ENST00000424583.7 | protein_coding | 5/9 | 524/1107 | 175/368 | chr19 | TogoVar | |||
| MEGF9_chr9_120595811_120719470 | 120714264 | ACGGCGG | A | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00323.hp2 HG00408.hp1 others(147): Show |
a0002a0003a0005 | a0002c0002a0002c0004a0002c0009others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0006others(20): Show | a0002c0002t0001g0171a0002c0002t0001g0189a0002c0002t0002g0164others(147): Show | 150 | 290 | 0.5172 | -6 | c.89_ others(11): Show |
p.Ala others(11): Show |
MEGF9 | ENSG00000106780.9 | transcript | ENST00000373930.4 | protein_coding | 1/6 | 206/6300 | 89/1809 | 30/602 | chr9 | TogoVar | ||
| MEIOSIN_chr19_45728439_45769541 | 45761789 | ATCCAGC | A | disruptive_inframe_deletion | MODERATE | HG02040.hp2 HG02523.hp1 HG03831.hp1 |
a0007 | a0007c0009 | a0007c0009t0001a0007c0009t0002 | a0007c0009t0001g0114a0007c0009t0001g0125a0007c0009t0002g0049 | 3 | 360 | 0.0083 | -6 | c.138 others(15): Show |
p.Ser others(13): Show |
MEIOSIN | ENSG00000237452.3 | transcript | ENST00000457052.3 | protein_coding | 12/15 | 1617/2568 | 1389/1917 | 463/638 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |
| MEOX2_chr7_15606212_15691683 | 15686172 | ATGG | A | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(238): Show |
a0001a0003a0005others(5): Show | a0001c0001a0001c0010a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(34): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(229): Show | 241 | 352 | 0.6847 | -3 | c.228 others(10): Show |
p.His others(5): Show |
MEOX2 | ENSG00000106511.6 | transcript | ENST00000262041.6 | protein_coding | 1/3 | 511/2371 | 228/915 | 76/304 | chr7 | TogoVar | ||
| MESP2_chr15_89771332_89783754 | 89776889 | GAGGGGCA others(17): Show |
G | disruptive_inframe_deletion | MODERATE | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(196): Show |
a0001a0007a0008others(5): Show | a0001c0001a0001c0006a0001c0014others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(12): Show | 199 | 394 | 0.5051 | -24 | c.558 others(31): Show |
p.Gly others(13): Show |
MESP2 | ENSG00000188095.6 | transcript | ENST00000341735.5 | protein_coding | 1/2 | 584/1640 | 558/1194 | 186/397 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| MESP2_chr15_89771332_89783754 | 89776903 | AGGGCAGG others(5): Show |
A | disruptive_inframe_deletion | MODERATE | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(165): Show |
a0002a0004a0005others(4): Show | a0002c0002a0002c0004a0002c0012others(9): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(13): Show | a0002c0002t0001g0001a0002c0002t0001g0002a0002c0002t0002g0004others(14): Show | 168 | 394 | 0.4264 | -12 | c.558 others(19): Show |
p.Gly others(13): Show |
MESP2 | ENSG00000188095.6 | transcript | ENST00000341735.5 | protein_coding | 1/2 | 584/1640 | 558/1194 | 186/397 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
| METTL17_chr14_20984980_21002035 | 20996603 | CCCGTATC others(26): Show |
C | disruptive_inframe_deletion | MODERATE | NA19010.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0034 | 1 | 478 | 0.0021 | -33 | c.116 others(42): Show |
p.Arg others(13): Show |
METTL17 | ENSG00000165792.18 | transcript | ENST00000339374.11 | protein_coding | 13/14 | 1183/1539 | 1160/1371 | 387/456 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
| METTL17_chr14_20984980_21002035 | 20996707 | GGCAGGTA others(69): Show |
G | splice_acceptor_variant others(4): Show |
HIGH | NA18957.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0106 | 1 | 478 | 0.0021 | -76 | c.126 others(87): Show |
p.Arg others(6): Show |
METTL17 | ENSG00000165792.18 | transcript | ENST00000339374.11 | protein_coding | 13/14 | 1286/1539 | 1263/1371 | 421/456 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |
| MEX3C_chr18_51169550_51202681 | 51196775 | CGCCGCCG others(2): Show |
C | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(94): Show |
a0002a0008a0009 | a0002c0002a0002c0008a0002c0017others(2): Show | a0002c0002t0001a0002c0002t0013a0002c0008t0001others(4): Show | a0002c0002t0001g0003a0002c0002t0001g0006a0002c0002t0001g0009others(34): Show | 97 | 376 | 0.2580 | -9 | c.537 others(16): Show |
p.Ala others(13): Show |
MEX3C | ENSG00000176624.12 | transcript | ENST00000406189.4 | protein_coding | 1/2 | 906/4142 | 537/1980 | 179/659 | chr18 | TogoVar | ||
| MFGE8_chr15_88893683_88918379 | 88909773 | AGCACCCC others(92): Show |
A | stop_gained others(4): Show |
HIGH | HG01934.hp2 | a0012 | a0012c0016 | a0012c0016t0002 | a0012c0016t0002g0217 | 1 | 436 | 0.0023 | -99 | c.125 others(109): Show |
p.Ser others(17): Show |
MFGE8 | ENSG00000140545.16 | transcript | ENST00000268150.13 | protein_coding | 2/8 | 125/1164 | 42/387 | chr15 | TogoVar |