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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MCTP1_chr5_94698690_95290094 | 94796641 | AATATATA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00735.hp1 others(62): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(38): Show | a0001c0001t0002g0037 a0001c0001t0002g0052 a0001c0001t0002g0064 others(62): Show |
65 | 98 | 0.6633 | -9 | c.255 others(28): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 18/22 | chr5 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 94922997 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG02083.hp1 HG02145.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0007others(6): Show | a0001c0001t0003g0082 a0001c0002t0001g0095 a0001c0002t0007g0062 others(6): Show |
9 | 98 | 0.0918 | -9 | c.127 others(26): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 7/22 | chr5 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 95061408 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG02056.hp2 HG02258.hp2 HG02572.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0016a0001c0003t0002a0001c0003t0003others(2): Show | a0001c0001t0016g0040 a0001c0003t0002g0092 a0001c0003t0003g0025 others(2): Show |
5 | 98 | 0.0510 | -9 | c.721 others(28): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
MCTP1_chr5_94698690_95290094 | 95063815 | CATTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG02615.hp1 HG02615.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0009others(3): Show | a0001c0001t0007a0001c0001t0014a0001c0007t0030others(4): Show | a0001c0001t0007g0034 a0001c0001t0014g0091 a0001c0007t0030g0090 others(4): Show |
7 | 98 | 0.0714 | -9 | c.721 others(28): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94258034 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02055.hp1 HG02258.hp1 others(4): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0001g0177 a0001c0001t0003g0180 a0001c0001t0011g0058 others(4): Show |
7 | 276 | 0.0254 | -9 | c.-66 others(28): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94303083 | ATATATAG others(2): Show |
A | intron_variant | MODIFIER | HG02451.hp2 HG03041.hp1 HG03195.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0054others(2): Show | a0001c0001t0001g0127 a0001c0001t0002g0044 a0001c0001t0054g0159 others(2): Show |
5 | 276 | 0.0181 | -9 | c.465 others(26): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94464248 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG02165.hp2 HG02523.hp1 NA18947.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0015others(1): Show | a0001c0001t0003a0001c0002t0003a0001c0015t0003others(1): Show | a0001c0001t0003g0016 a0001c0001t0003g0021 a0001c0001t0003g0093 others(10): Show |
13 | 276 | 0.0471 | -9 | c.236 others(28): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 20/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTS1_chrX_120599101_120626159 | 120599961 | CGTTGATG others(2): Show |
C | upstream_gene_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0001 | 1 | 316 | 0.0032 | -9 | c.-42 others(20): Show |
MCTS1 | ENSG00000232119.8 | transcript | ENST00000371317.10 | protein_coding | 4139 | chrX | TogoVar | |||||||
MCU_chr10_72687143_72892694 | 72695226 | CTACATCT others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 |
3 | 210 | 0.0143 | -9 | c.150 others(26): Show |
MCU | ENSG00000156026.15 | transcript | ENST00000373053.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MCU_chr10_72687143_72892694 | 72776700 | ACTAGAAG others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 |
3 | 210 | 0.0143 | -9 | c.151 others(28): Show |
MCU | ENSG00000156026.15 | transcript | ENST00000373053.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MDFIC2_chr3_70189479_70317638 | 70293045 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00558.hp1 others(72): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0095 a0001c0001t0001g0096 a0001c0001t0001g0114 others(72): Show |
75 | 370 | 0.2027 | -9 | c.88+ others(26): Show |
MDFIC2 | ENSG00000242120.4 | transcript | ENST00000567252.2 | protein_coding | 2/3 | chr3 | TogoVar | |||||||
MDGA1_chr6_37625679_37702883 | 37701209 | TATATATA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG02074.hp1 HG02080.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0265 a0001c0001t0001g0292 a0001c0001t0002g0263 others(4): Show |
7 | 402 | 0.0174 | -9 | c.-44 others(20): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 3327 | chr6 | TogoVar | |||||||
MDGA1_chr6_37625679_37702883 | 37701211 | TATATATA others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00438.hp2 others(61): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0002a0001c0008others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0255 a0001c0001t0001g0259 a0001c0001t0001g0261 others(58): Show |
64 | 402 | 0.1592 | -9 | c.-44 others(20): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 3329 | chr6 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 46864545 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01167.hp1 others(28): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0050 a0001c0001t0001g0055 a0001c0001t0001g0060 others(28): Show |
31 | 120 | 0.2583 | -9 | c.275 others(28): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 14/16 | chr14 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 47295927 | TGATAAGA others(2): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG02818.hp2 HG03195.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0007a0002c0002t0011 | a0001c0001t0004g0016 a0001c0001t0007g0021 a0002c0002t0011g0020 |
3 | 120 | 0.0250 | -9 | c.420 others(26): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 2/16 | chr14 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 47537573 | TTAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00735.hp2 HG01175.hp1 HG01884.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0067 a0001c0001t0002g0040 a0001c0001t0002g0051 others(8): Show |
11 | 120 | 0.0917 | -9 | c.280 others(30): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 47561170 | TGTTTGTT others(2): Show |
T | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 a0001c0001t0001g0067 |
2 | 120 | 0.0167 | -9 | c.280 others(30): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 47653073 | CCCAGTAG others(2): Show |
C | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01358.hp1 others(19): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(9): Show | a0001c0001t0004g0001 a0001c0001t0004g0015 a0001c0001t0004g0016 others(19): Show |
22 | 120 | 0.1833 | -9 | c.280 others(28): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
MDM2_chr12_68803177_68850544 | 68833126 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02451.hp1 HG02486.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0006 | a0001c0001t0009a0001c0001t0036a0001c0001t0064others(4): Show | a0001c0001t0009g0141 a0001c0001t0009g0145 a0001c0001t0036g0026 others(6): Show |
9 | 388 | 0.0232 | -9 | c.685 others(26): Show |
MDM2 | ENSG00000135679.27 | transcript | ENST00000258149.11 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MDN1_chr6_89637498_89824794 | 89665706 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(186): Show |
a0001a0002a0003others(30): Show | a0001c0001a0001c0007a0001c0050others(40): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0013others(44): Show | a0001c0001t0001g0061 a0001c0001t0001g0062 a0001c0001t0001g0080 others(186): Show |
189 | 290 | 0.6517 | -9 | c.140 others(30): Show |
MDN1 | ENSG00000112159.13 | transcript | ENST00000369393.8 | protein_coding | 84/101 | chr6 | TogoVar | |||||||
MDN1_chr6_89637498_89824794 | 89782604 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG00642.hp2 others(57): Show |
a0002a0009a0029others(6): Show | a0002c0002a0002c0011a0002c0028others(10): Show | a0002c0002t0001a0002c0002t0008a0002c0011t0001others(11): Show | a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0027 others(57): Show |
60 | 290 | 0.2069 | -9 | c.145 others(28): Show |
MDN1 | ENSG00000112159.13 | transcript | ENST00000369393.8 | protein_coding | 9/101 | chr6 | TogoVar | |||||||
MDN1_chr6_89637498_89824794 | 89809993 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG02735.hp2 HG03041.hp2 others(3): Show |
a0002a0009a0048 | a0002c0002a0009c0012a0048c0026 | a0002c0002t0001a0002c0002t0008a0009c0012t0001others(1): Show | a0002c0002t0001g0025 a0002c0002t0001g0026 a0002c0002t0001g0038 others(3): Show |
6 | 290 | 0.0207 | -9 | c.103 others(26): Show |
MDN1 | ENSG00000112159.13 | transcript | ENST00000369393.8 | protein_coding | 1/101 | chr6 | TogoVar | |||||||
ME1_chr6_83205402_83436051 | 83281844 | AACAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG02056.hp2 HG02293.hp1 HG02723.hp2 others(5): Show |
a0001a0004 | a0001c0001a0001c0005a0004c0012 | a0001c0001t0002a0001c0005t0002a0004c0012t0002 | a0001c0001t0002g0029 a0001c0001t0002g0030 a0001c0001t0002g0038 others(5): Show |
8 | 272 | 0.0294 | -9 | c.705 others(28): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 6/13 | chr6 | TogoVar | |||||||
ME1_chr6_83205402_83436051 | 83298931 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG01891.hp1 HG02523.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0198 others(7): Show |
10 | 272 | 0.0368 | -9 | c.704 others(28): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 6/13 | chr6 | TogoVar | |||||||
ME2_chr18_50874118_50959257 | 50893124 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(118): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(52): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0012 others(115): Show |
121 | 342 | 0.3538 | -9 | c.-12 others(26): Show |
ME2 | ENSG00000082212.13 | transcript | ENST00000321341.11 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ME2_chr18_50874118_50959257 | 50931840 | AATTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG03225.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0057a0001c0001t0058 | a0001c0001t0028g0057 a0001c0001t0028g0059 a0001c0001t0057g0058 others(1): Show |
4 | 342 | 0.0117 | -9 | c.131 others(26): Show |
ME2 | ENSG00000082212.13 | transcript | ENST00000321341.11 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ME3_chr11_86436108_86677616 | 86591184 | CTGGAGGA others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(119): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(18): Show | a0001c0001t0001g0050 a0001c0001t0001g0061 a0001c0001t0001g0168 others(119): Show |
122 | 320 | 0.3813 | -9 | c.184 others(28): Show |
ME3 | ENSG00000151376.19 | transcript | ENST00000543262.6 | protein_coding | 2/14 | chr11 | TogoVar | |||||||
ME3_chr11_86436108_86677616 | 86617045 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(65): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(16): Show | a0001c0001t0001g0043 a0001c0001t0001g0050 a0001c0001t0001g0181 others(65): Show |
68 | 320 | 0.2125 | -9 | c.183 others(28): Show |
ME3 | ENSG00000151376.19 | transcript | ENST00000543262.6 | protein_coding | 2/14 | chr11 | TogoVar | |||||||
MEAK7_chr16_84471355_84509659 | 84490443 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01256.hp2 HG02109.hp2 HG02258.hp1 others(9): Show |
a0001a0002a0015 | a0001c0002a0001c0006a0002c0007others(2): Show | a0001c0002t0004a0001c0006t0043a0002c0007t0020others(3): Show | a0001c0002t0004g0407 a0001c0006t0043g0216 a0001c0006t0043g0333 others(9): Show |
12 | 468 | 0.0256 | -9 | c.385 others(26): Show |
MEAK7 | ENSG00000140950.16 | transcript | ENST00000343629.11 | protein_coding | 3/7 | chr16 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169088152 | ATACAAAA others(2): Show |
A | intron_variant | MODIFIER | HG02809.hp2 HG04228.hp2 |
a0005a0006 | a0005c0014a0006c0015 | a0005c0014t0019a0006c0015t0022 | a0005c0014t0019g0012 a0006c0015t0022g0001 |
2 | 160 | 0.0125 | -9 | c.358 others(26): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 16/16 | chr3 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169104980 | GCCTCCCC others(2): Show |
G | intron_variant | MODIFIER | HG03195.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0070 a0001c0001t0014g0148 |
2 | 160 | 0.0125 | -9 | c.260 others(28): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 10/16 | chr3 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169191719 | AAAAAGAA others(2): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01361.hp1 HG01361.hp2 others(11): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(9): Show | a0001c0001t0003g0039 a0001c0001t0004g0061 a0001c0001t0005g0094 others(11): Show |
14 | 160 | 0.0875 | -9 | c.376 others(28): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169485884 | TGTATATA others(2): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0023 | a0001c0001t0006g0121 a0001c0001t0023g0002 |
2 | 160 | 0.0125 | -9 | c.38- others(28): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169499346 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG03130.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0010 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0002g0084 a0001c0001t0006g0125 a0001c0001t0007g0127 others(3): Show |
6 | 160 | 0.0375 | -9 | c.38- others(28): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169507650 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00738.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(17): Show | a0001c0001t0002g0076 a0001c0001t0002g0084 a0001c0001t0004g0072 others(21): Show |
24 | 160 | 0.1500 | -9 | c.38- others(28): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169592797 | AATTACAT others(2): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009 | a0001c0001t0007g0135 a0001c0001t0009g0145 |
2 | 160 | 0.0125 | -9 | c.37+ others(26): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169663521 | TCTCTCTC others(2): Show |
T | 5_prime_UTR_variant | MODIFIER | HG02622.hp2 HG02809.hp2 NA19002.hp2 |
a0001a0005 | a0001c0001a0005c0014 | a0001c0001t0019a0001c0001t0030a0005c0014t0019 | a0001c0001t0019g0013 a0001c0001t0030g0011 a0005c0014t0019g0012 |
3 | 160 | 0.0188 | -9 | c.-15 others(18): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/17 | 150 | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151106311 | CCCCTCCC others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01255.hp1 HG01496.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0009others(2): Show | a0001c0001t0009a0001c0004t0002a0001c0004t0021others(4): Show | a0001c0001t0009g0134 a0001c0004t0002g0138 a0001c0004t0021g0136 others(9): Show |
12 | 280 | 0.0429 | -9 | c.100 others(28): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 2/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151115327 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01255.hp1 HG01496.hp2 others(4): Show |
a0001 | a0001c0004a0001c0009a0001c0017others(1): Show | a0001c0004t0002a0001c0004t0021a0001c0009t0012others(3): Show | a0001c0004t0002g0138 a0001c0004t0021g0137 a0001c0009t0012g0175 others(4): Show |
7 | 280 | 0.0250 | -9 | c.100 others(24): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 2/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151245014 | TCTAGAAG others(2): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(139): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0004others(23): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(60): Show | a0001c0001t0002g0200 a0001c0001t0002g0230 a0001c0001t0003g0223 others(139): Show |
142 | 280 | 0.5071 | -9 | c.225 others(30): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 16/44 | chr3 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151269432 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG04115.hp1 NA19090.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0002c0003t0004a0002c0003t0006 | a0001c0001t0003g0210 a0002c0003t0004g0165 a0002c0003t0006g0049 |
3 | 280 | 0.0107 | -9 | c.225 others(30): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 16/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151293668 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG02572.hp1 HG03486.hp2 NA19030.hp2 |
a0001a0003 | a0001c0002a0001c0009a0003c0043 | a0001c0002t0001a0001c0009t0043a0003c0043t0001 | a0001c0002t0001g0108 a0001c0009t0043g0026 a0003c0043t0001g0103 |
3 | 280 | 0.0107 | -9 | c.225 others(30): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 16/44 | chr3 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151317436 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02486.hp2 others(11): Show |
a0001a0006 | a0001c0001a0001c0010a0001c0013others(5): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0023others(9): Show | a0001c0001t0002g0125 a0001c0001t0002g0126 a0001c0001t0009g0081 others(11): Show |
14 | 280 | 0.0500 | -9 | c.225 others(30): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 16/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MED12_chrX_71113596_71147450 | 71115668 | TTTGTTGT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG00673.hp1 others(83): Show |
a0001a0003a0006others(4): Show | a0001c0001a0001c0004a0001c0013others(7): Show | a0001c0001t0001a0001c0004t0001a0001c0013t0001others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0011 others(50): Show |
86 | 273 | 0.3150 | -9 | c.-30 others(20): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 2927 | chrX | TogoVar | |||||||
MED13L_chr12_115953576_116282693 | 116178142 | GCTGAGAT others(2): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG01071.hp2 others(31): Show |
a0001 | a0001c0001a0001c0003a0001c0015others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0044 a0001c0001t0001g0045 a0001c0001t0001g0046 others(31): Show |
34 | 254 | 0.1339 | -9 | c.310 others(28): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | TogoVar | |||||||
MED13L_chr12_115953576_116282693 | 116250289 | AAATACAG others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(62): Show |
a0001a0003a0010others(1): Show | a0001c0001a0001c0002a0001c0006others(6): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0006others(9): Show | a0001c0001t0001g0045 a0001c0001t0001g0114 a0001c0001t0001g0138 others(62): Show |
65 | 254 | 0.2559 | -9 | c.73- others(26): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 1/30 | chr12 | TogoVar | |||||||
MED13_chr17_61937605_62070278 | 62015954 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0077 a0001c0003t0001g0091 a0001c0003t0001g0096 others(5): Show |
8 | 326 | 0.0245 | -9 | c.128 others(28): Show |
MED13 | ENSG00000108510.10 | transcript | ENST00000397786.7 | protein_coding | 8/29 | chr17 | TogoVar | |||||||
MED14_chrX_40643305_40740542 | 40700384 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG03540.hp2 NA19043.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0002 | 3 | 251 | 0.0120 | -9 | c.149 others(26): Show |
MED14 | ENSG00000180182.11 | transcript | ENST00000324817.6 | protein_coding | 12/30 | chrX | TogoVar | |||||||
MED14_chrX_40643305_40740542 | 40723667 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 251 | 0.0040 | -9 | c.348 others(26): Show |
MED14 | ENSG00000180182.11 | transcript | ENST00000324817.6 | protein_coding | 3/30 | chrX | TogoVar | |||||||
MED15_chr22_20502610_20592619 | 20566526 | ACAGCAGC others(2): Show |
A | conservative_inframe_deletion | MODERATE | HG02451.hp1 NA18995.hp1 NA19043.hp1 |
a0004 | a0004c0009a0004c0024 | a0004c0009t0001a0004c0024t0002 | a0004c0009t0001g0213 a0004c0009t0001g0214 a0004c0024t0002g0258 |
3 | 341 | 0.0088 | -9 | c.778 others(16): Show |
p.Gln others(13): Show |
MED15 | ENSG00000099917.17 | transcript | ENST00000263205.11 | protein_coding | 7/18 | 847/3351 | 778/2367 | 260/788 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |