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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MCTP2_chr15_94226561_94488952 | 94433083 | G | GGATTTGT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00423.hp1 others(85): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0086 a0001c0001t0001g0099 a0001c0001t0001g0197 others(85): Show |
88 | 276 | 0.3188 | 9 | c.208 others(28): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94455624 | A | ACCATGTT others(2): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01496.hp2 HG02055.hp2 others(19): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(10): Show | a0001c0001t0001g0049 a0001c0001t0001g0074 a0001c0001t0001g0097 others(19): Show |
22 | 276 | 0.0797 | 9 | c.225 others(28): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCUB_chr4_109555246_109693719 | 109679787 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01243.hp1 HG01891.hp2 others(7): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0026 a0001c0001t0001g0029 others(6): Show |
10 | 336 | 0.0298 | 9 | c.452 others(26): Show |
MCUB | ENSG00000005059.16 | transcript | ENST00000394650.7 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MCU_chr10_72687143_72892694 | 72810634 | G | GGTTGTTG others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02055.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 a0001c0001t0001g0155 a0001c0001t0001g0158 |
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 | 70237979 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03471.hp1 HG03490.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0095 a0001c0001t0001g0108 a0001c0001t0001g0122 others(5): Show |
8 | 370 | 0.0216 | 9 | c.89- others(26): Show |
MDFIC2 | ENSG00000242120.4 | transcript | ENST00000567252.2 | protein_coding | 2/3 | chr3 | TogoVar | |||||||
MDFIC_chr7_114917094_115024917 | 114920922 | G | GTTGTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG01358.hp2 HG02257.hp1 HG02523.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0295 a0001c0001t0001g0298 others(8): Show |
14 | 334 | 0.0419 | 9 | c.-18 others(20): Show |
MDFIC | ENSG00000135272.13 | transcript | ENST00000393486.6 | protein_coding | 1171 | chr7 | TogoVar | |||||||
MDFIC_chr7_114917094_115024917 | 114920922 | G | GTTTTTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00621.hp1 HG00642.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0092 others(34): Show |
38 | 334 | 0.1138 | 9 | c.-18 others(20): Show |
MDFIC | ENSG00000135272.13 | transcript | ENST00000393486.6 | protein_coding | 1171 | chr7 | TogoVar | |||||||
MDFIC_chr7_114917094_115024917 | 114959824 | C | CTAATAAT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00609.hp1 others(51): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0080 a0001c0001t0001g0115 a0001c0001t0001g0192 others(49): Show |
54 | 334 | 0.1617 | 9 | c.217 others(28): Show |
MDFIC | ENSG00000135272.13 | transcript | ENST00000393486.6 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MDGA1_chr6_37625679_37702883 | 37698245 | C | CTCTCTCT others(2): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 HG02615.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0017 | a0001c0001t0010a0001c0001t0016a0001c0001t0118others(2): Show | a0001c0001t0010g0381 a0001c0001t0016g0231 a0001c0001t0118g0377 others(3): Show |
6 | 402 | 0.0149 | 9 | c.-14 others(20): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 363 | chr6 | TogoVar | |||||||
MDGA1_chr6_37625679_37702883 | 37698246 | T | TCTCTCTC others(2): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0010a0001c0001t0124a0001c0003t0121others(2): Show | a0001c0001t0010g0386 a0001c0001t0124g0389 a0001c0003t0121g0391 others(3): Show |
6 | 402 | 0.0149 | 9 | c.-14 others(20): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 364 | chr6 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 46918760 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01358.hp2 HG02257.hp1 others(9): Show |
a0001a0002a0007 | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0013others(6): Show | a0001c0001t0001g0111 a0001c0001t0012g0017 a0001c0001t0012g0019 others(9): Show |
12 | 120 | 0.1000 | 9 | c.223 others(28): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 10/16 | chr14 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 46938540 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01884.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0014a0001c0001t0017others(1): Show | a0001c0001t0006g0048 a0001c0001t0014g0095 a0001c0001t0014g0096 others(2): Show |
5 | 120 | 0.0417 | 9 | c.209 others(30): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 9/16 | chr14 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 47079727 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01167.hp2 HG01175.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0037 a0001c0001t0002g0088 a0001c0001t0003g0057 others(5): Show |
8 | 120 | 0.0667 | 9 | c.119 others(30): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 6/16 | chr14 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 47247632 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01167.hp2 HG02135.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0047 a0001c0001t0001g0052 a0001c0001t0002g0088 others(3): Show |
6 | 120 | 0.0500 | 9 | c.421 others(28): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 2/16 | chr14 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 47247632 | T | TTTTTTAT others(2): Show |
intron_variant | MODIFIER | HG02738.hp2 HG03017.hp1 HG03704.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0018 | a0001c0001t0002g0056 a0001c0001t0002g0093 a0001c0001t0008g0012 others(1): Show |
4 | 120 | 0.0333 | 9 | c.421 others(28): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 2/16 | chr14 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 47251931 | G | GTATCATT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00735.hp2 HG00741.hp1 others(27): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0065 a0001c0001t0001g0072 a0001c0001t0001g0094 others(27): Show |
30 | 120 | 0.2500 | 9 | c.421 others(28): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 2/16 | chr14 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 47370497 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01517.hp1 HG01978.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(3): Show | a0001c0001t0002g0042 a0001c0001t0006g0041 a0001c0001t0006g0082 others(4): Show |
7 | 120 | 0.0583 | 9 | c.281 others(28): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 47384015 | A | AGATAGAT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01099.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0068 a0001c0001t0001g0077 a0001c0001t0001g0085 others(3): Show |
6 | 120 | 0.0500 | 9 | c.281 others(28): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
MDN1_chr6_89637498_89824794 | 89682699 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00738.hp2 others(6): Show |
a0005a0043 | a0005c0005a0005c0022a0005c0067others(1): Show | a0005c0005t0003a0005c0005t0004a0005c0022t0003others(2): Show | a0005c0005t0003g0005 a0005c0005t0003g0010 a0005c0005t0003g0019 others(6): Show |
9 | 290 | 0.0310 | 9 | c.121 others(28): Show |
MDN1 | ENSG00000112159.13 | transcript | ENST00000369393.8 | protein_coding | 73/101 | chr6 | TogoVar | |||||||
MDN1_chr6_89637498_89824794 | 89734691 | A | AGAGAGAG others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG01167.hp1 others(8): Show |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0161 a0001c0007t0001g0241 a0001c0007t0001g0242 others(8): Show |
11 | 290 | 0.0379 | 9 | c.472 others(28): Show |
MDN1 | ENSG00000112159.13 | transcript | ENST00000369393.8 | protein_coding | 33/101 | chr6 | TogoVar | |||||||
ME1_chr6_83205402_83436051 | 83221158 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp2 others(76): Show |
a0001a0004a0005 | a0001c0001a0001c0005a0004c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0190 a0001c0001t0001g0192 a0001c0001t0001g0193 others(76): Show |
79 | 272 | 0.2904 | 9 | c.144 others(28): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 12/13 | chr6 | TogoVar | |||||||
ME1_chr6_83205402_83436051 | 83268728 | G | GTTATTAT others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02040.hp1 HG02109.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(6): Show | a0001c0001t0002g0039 a0001c0001t0002g0043 a0001c0001t0002g0044 others(25): Show |
28 | 272 | 0.1029 | 9 | c.705 others(28): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 6/13 | chr6 | TogoVar | |||||||
ME1_chr6_83205402_83436051 | 83277901 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02886.hp1 NA18981.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0006a0001c0003t0012 | a0001c0001t0003g0252 a0001c0001t0006g0272 a0001c0003t0012g0019 |
3 | 272 | 0.0110 | 9 | c.705 others(28): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 6/13 | chr6 | TogoVar | |||||||
ME1_chr6_83205402_83436051 | 83277907 | T | TAATAATA others(2): Show |
intron_variant | MODIFIER | HG03130.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 a0001c0001t0002g0050 |
2 | 272 | 0.0074 | 9 | c.705 others(28): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 6/13 | chr6 | TogoVar | |||||||
ME1_chr6_83205402_83436051 | 83314663 | C | CTCATTAT others(2): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02717.hp1 HG03453.hp2 |
a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0208 a0001c0003t0004g0210 a0001c0003t0004g0211 |
3 | 272 | 0.0110 | 9 | c.704 others(24): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 6/13 | chr6 | TogoVar | |||||||
ME2_chr18_50874118_50959257 | 50941353 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01891.hp1 HG01934.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0036a0001c0001t0155a0002c0002t0020others(3): Show | a0001c0001t0036g0191 a0001c0001t0155g0190 a0002c0002t0020g0120 others(4): Show |
7 | 342 | 0.0205 | 9 | c.158 others(26): Show |
ME2 | ENSG00000082212.13 | transcript | ENST00000321341.11 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ME2_chr18_50874118_50959257 | 50950468 | T | TTTTTTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01074.hp2 HG02735.hp2 HG03453.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0033a0001c0001t0043others(4): Show | a0001c0001t0017g0250 a0001c0001t0017g0280 a0001c0001t0017g0283 others(9): Show |
12 | 342 | 0.0351 | 9 | c.*32 others(20): Show |
ME2 | ENSG00000082212.13 | transcript | ENST00000321341.11 | protein_coding | 16/16 | 3293 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ME3_chr11_86436108_86677616 | 86501175 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02280.hp1 HG03139.hp2 |
a0001 | a0001c0001a0001c0023 | a0001c0001t0001a0001c0023t0001 | a0001c0001t0001g0091 a0001c0001t0001g0163 a0001c0023t0001g0205 |
3 | 320 | 0.0094 | 9 | c.544 others(26): Show |
ME3 | ENSG00000151376.19 | transcript | ENST00000543262.6 | protein_coding | 5/14 | chr11 | TogoVar | |||||||
ME3_chr11_86436108_86677616 | 86567243 | A | AAAAGGAA others(2): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG02735.hp2 others(4): Show |
a0001a0002 | a0001c0010a0002c0004 | a0001c0010t0001a0001c0010t0006a0002c0004t0001 | a0001c0010t0001g0083 a0001c0010t0001g0085 a0001c0010t0001g0086 others(4): Show |
7 | 320 | 0.0219 | 9 | c.184 others(26): Show |
ME3 | ENSG00000151376.19 | transcript | ENST00000543262.6 | protein_coding | 2/14 | chr11 | TogoVar | |||||||
ME3_chr11_86436108_86677616 | 86618299 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02145.hp2 HG02148.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0171 a0001c0001t0001g0172 a0001c0001t0002g0218 others(5): Show |
8 | 320 | 0.0250 | 9 | c.183 others(28): Show |
ME3 | ENSG00000151376.19 | transcript | ENST00000543262.6 | protein_coding | 2/14 | chr11 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169097817 | T | TAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02486.hp2 HG02717.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0005a0001c0004t0001a0001c0004t0002others(3): Show | a0001c0001t0005g0096 a0001c0004t0001g0059 a0001c0004t0002g0090 others(3): Show |
6 | 160 | 0.0375 | 9 | c.285 others(28): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 12/16 | chr3 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169261745 | A | AGGAGAAA others(2): Show |
intron_variant | MODIFIER | HG01255.hp2 HG01433.hp2 HG02257.hp1 others(9): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0010 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0003g0032 a0001c0001t0003g0039 a0001c0001t0003g0040 others(9): Show |
12 | 160 | 0.0750 | 9 | c.376 others(30): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169506466 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(46): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0048 a0001c0001t0002g0076 a0001c0001t0002g0084 others(46): Show |
49 | 160 | 0.3063 | 9 | c.38- others(28): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169533591 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02109.hp2 HG02258.hp2 others(18): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(15): Show | a0001c0001t0004g0073 a0001c0001t0005g0094 a0001c0001t0005g0103 others(18): Show |
21 | 160 | 0.1313 | 9 | c.37+ others(28): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
MECOM_chr3_169078507_169668712 | 169649409 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01081.hp1 HG01099.hp1 others(40): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(34): Show | a0001c0001t0003g0031 a0001c0001t0003g0032 a0001c0001t0004g0063 others(40): Show |
43 | 160 | 0.2688 | 9 | c.37+ others(26): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
MED11_chr17_4726428_4738607 | 4732420 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01071.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 21 | 432 | 0.0486 | 9 | c.216 others(24): Show |
MED11 | ENSG00000161920.11 | transcript | ENST00000293777.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151083093 | C | CTAATTAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00544.hp2 HG00621.hp1 others(38): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0004others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(24): Show | a0001c0001t0002g0200 a0001c0001t0003g0012 a0001c0001t0004g0172 others(38): Show |
41 | 280 | 0.1464 | 9 | c.-29 others(20): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 2570 | chr3 | TogoVar | |||||||
MED12L_chr3_151080664_151441653 | 151206642 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01069.hp2 HG01071.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0002g0224 a0001c0001t0003g0216 a0001c0001t0004g0172 others(20): Show |
23 | 280 | 0.0821 | 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 | 151311953 | G | GGCGGAGG others(2): Show |
intron_variant | MODIFIER | HG00673.hp1 NA18964.hp2 NA19058.hp1 others(1): Show |
a0001a0007 | a0001c0002a0001c0010a0007c0028 | a0001c0002t0001a0001c0002t0003a0001c0010t0002others(1): Show | a0001c0002t0001g0189 a0001c0002t0003g0279 a0001c0010t0002g0253 others(1): Show |
4 | 280 | 0.0143 | 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 | 71132791 | T | TTCTCTTC others(2): Show |
intron_variant | MODIFIER | NA19059.hp2 | a0012 | a0012c0023 | a0012c0023t0001 | a0012c0023t0001g0047 | 1 | 273 | 0.0037 | 9 | c.441 others(24): Show |
MED12 | ENSG00000184634.17 | transcript | ENST00000374080.8 | protein_coding | 31/44 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
MED13L_chr12_115953576_116282693 | 116024796 | T | TGTATTTA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00558.hp1 others(54): Show |
a0001a0003a0010others(1): Show | a0001c0002a0001c0006a0001c0013others(3): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0009others(6): Show | a0001c0002t0002g0039 a0001c0002t0002g0040 a0001c0002t0002g0048 others(54): Show |
57 | 254 | 0.2244 | 9 | c.480 others(26): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | TogoVar | |||||||
MED13L_chr12_115953576_116282693 | 116096354 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01123.hp1 HG02615.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0001g0046 a0001c0001t0001g0113 a0001c0001t0003g0015 others(5): Show |
8 | 254 | 0.0315 | 9 | c.479 others(24): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | TogoVar | |||||||
MED13L_chr12_115953576_116282693 | 116148051 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01071.hp2 HG01346.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0002 | a0001c0001t0001g0175 a0001c0001t0005g0043 a0001c0001t0005g0145 others(3): Show |
6 | 254 | 0.0236 | 9 | c.311 others(28): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 2/30 | chr12 | TogoVar | |||||||
MED13_chr17_61937605_62070278 | 62008317 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00642.hp1 HG01884.hp1 others(51): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0010a0001c0001t0012others(12): Show | a0001c0001t0002g0118 a0001c0001t0002g0120 a0001c0001t0002g0125 others(51): Show |
54 | 326 | 0.1656 | 9 | c.196 others(28): Show |
MED13 | ENSG00000108510.10 | transcript | ENST00000397786.7 | protein_coding | 9/29 | chr17 | TogoVar | |||||||
MED13_chr17_61937605_62070278 | 62049078 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02257.hp2 HG03209.hp2 others(4): Show |
a0001a0002a0005 | a0001c0007a0002c0005a0005c0023 | a0001c0007t0005a0002c0005t0001a0005c0023t0005 | a0001c0007t0005g0010 a0001c0007t0005g0011 a0001c0007t0005g0013 others(4): Show |
7 | 326 | 0.0215 | 9 | c.470 others(26): Show |
MED13 | ENSG00000108510.10 | transcript | ENST00000397786.7 | protein_coding | 3/29 | chr17 | TogoVar | |||||||
MED14_chrX_40643305_40740542 | 40721982 | G | GCCCCCCC others(2): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 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 | 20505559 | C | CAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp1 others(21): Show |
a0001a0015 | a0001c0001a0001c0002a0015c0018 | a0001c0001t0001a0001c0002t0002a0015c0018t0002 | a0001c0001t0001g0001 a0001c0001t0001g0211 a0001c0001t0001g0236 others(21): Show |
24 | 341 | 0.0704 | 9 | c.-21 others(20): Show |
MED15 | ENSG00000099917.17 | transcript | ENST00000263205.11 | protein_coding | 2050 | chr22 | TogoVar | |||||||
MED15_chr22_20502610_20592619 | 20511988 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02630.hp2 HG02647.hp2 others(5): Show |
a0002a0013 | a0002c0003a0013c0027 | a0002c0003t0001a0013c0027t0001 | a0002c0003t0001g0009 a0002c0003t0001g0297 a0002c0003t0001g0298 others(4): Show |
8 | 341 | 0.0235 | 9 | c.68+ others(24): Show |
MED15 | ENSG00000099917.17 | transcript | ENST00000263205.11 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MED15_chr22_20502610_20592619 | 20570749 | T | TCTTTCTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG04184.hp2 others(1): Show |
a0001a0002a0017 | a0001c0001a0002c0003a0017c0016 | a0001c0001t0001a0002c0003t0001a0017c0016t0001 | a0001c0001t0001g0107 a0002c0003t0001g0164 a0002c0003t0001g0180 others(1): Show |
4 | 341 | 0.0117 | 9 | c.115 others(28): Show |
MED15 | ENSG00000099917.17 | transcript | ENST00000263205.11 | protein_coding | 8/17 | chr22 | TogoVar | |||||||
MED16_chr19_862963_898187 | 871782 | G | GCGGGGAG others(2): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02886.hp2 |
a0001 | a0001c0019a0001c0025 | a0001c0019t0001a0001c0025t0001 | a0001c0019t0001g0033 a0001c0025t0001g0003 |
2 | 56 | 0.0357 | 9 | c.209 others(26): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar |