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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ME1_chr6_83205402_83436051 | 83406971 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0018 | 1 | 272 | 0.0037 | 20 | c.212 others(35): Show |
ME1 | ENSG00000065833.9 | transcript | ENST00000369705.4 | protein_coding | 2/13 | chr6 | TogoVar | ||||||
ME2_chr18_50874118_50959257 | 50913860 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03041.hp1 HG03453.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0170a0002c0002t0182a0002c0002t0183 | a0001c0001t0170g0193a0002c0002t0182g0015a0002c0002t0183g0015 | 3 | 342 | 0.0088 | 20 | c.392 others(35): Show |
ME2 | ENSG00000082212.13 | transcript | ENST00000321341.11 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ME2_chr18_50874118_50959257 | 50913860 | T | TATACACA others(13): Show |
intron_variant | MODIFIER | HG02280.hp1 NA18522.hp1 NA19004.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0181 | a0001c0001t0001g0279a0001c0001t0002g0235a0001c0001t0181g0197 | 3 | 342 | 0.0088 | 20 | c.392 others(35): Show |
ME2 | ENSG00000082212.13 | transcript | ENST00000321341.11 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ME2_chr18_50874118_50959257 | 50927721 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0187 | 1 | 342 | 0.0029 | 20 | c.131 others(39): Show |
ME2 | ENSG00000082212.13 | transcript | ENST00000321341.11 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ME2_chr18_50874118_50959257 | 50950467 | C | CCTTTTTT others(13): Show |
3_prime_UTR_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0117 | 1 | 342 | 0.0029 | 20 | c.*32 others(31): Show |
ME2 | ENSG00000082212.13 | transcript | ENST00000321341.11 | protein_coding | 16/16 | 3284 | chr18 | TogoVar | |||||
ME2_chr18_50874118_50959257 | 50959136 | T | TCCTTCCT others(13): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0036 | 1 | 342 | 0.0029 | 20 | c.*11 others(33): Show |
ME2 | ENSG00000082212.13 | transcript | ENST00000321341.11 | protein_coding | 4880 | chr18 | TogoVar | ||||||
ME3_chr11_86436108_86677616 | 86471141 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG03225.hp1 HG03486.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0273a0001c0001t0002g0282a0001c0001t0002g0292 | 3 | 320 | 0.0094 | 20 | c.810 others(37): Show |
ME3 | ENSG00000151376.19 | transcript | ENST00000543262.6 | protein_coding | 7/14 | chr11 | TogoVar | ||||||
ME3_chr11_86436108_86677616 | 86475874 | T | TATATAGA others(13): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 320 | 0.0031 | 20 | c.810 others(39): Show |
ME3 | ENSG00000151376.19 | transcript | ENST00000543262.6 | protein_coding | 7/14 | chr11 | TogoVar | ||||||
ME3_chr11_86436108_86677616 | 86475874 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02886.hp1 NA19009.hp1 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0006t0001 | a0001c0002t0001g0167a0001c0006t0001g0110 | 2 | 320 | 0.0063 | 20 | c.810 others(39): Show |
ME3 | ENSG00000151376.19 | transcript | ENST00000543262.6 | protein_coding | 7/14 | chr11 | TogoVar | ||||||
ME3_chr11_86436108_86677616 | 86560744 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 320 | 0.0031 | 20 | c.184 others(35): Show |
ME3 | ENSG00000151376.19 | transcript | ENST00000543262.6 | protein_coding | 2/14 | chr11 | TogoVar | ||||||
ME3_chr11_86436108_86677616 | 86560748 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0144 | 1 | 320 | 0.0031 | 20 | c.184 others(35): Show |
ME3 | ENSG00000151376.19 | transcript | ENST00000543262.6 | protein_coding | 2/14 | chr11 | TogoVar | ||||||
ME3_chr11_86436108_86677616 | 86567243 | A | AAAGAAAG others(13): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG02273.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0103a0002c0003t0002g0249a0002c0003t0002g0318 | 3 | 320 | 0.0094 | 20 | c.184 others(37): Show |
ME3 | ENSG00000151376.19 | transcript | ENST00000543262.6 | protein_coding | 2/14 | chr11 | TogoVar | ||||||
ME3_chr11_86436108_86677616 | 86595306 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG01070.hp1 HG02145.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0002a0001c0006t0001 | a0001c0001t0002g0218a0001c0006t0001g0046 | 2 | 320 | 0.0063 | 20 | c.184 others(39): Show |
ME3 | ENSG00000151376.19 | transcript | ENST00000543262.6 | protein_coding | 2/14 | chr11 | TogoVar | ||||||
ME3_chr11_86436108_86677616 | 86595306 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02451.hp2 NA18948.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0219a0001c0001t0002g0220a0001c0002t0001g0031others(3): Show | 6 | 320 | 0.0188 | 20 | c.184 others(39): Show |
ME3 | ENSG00000151376.19 | transcript | ENST00000543262.6 | protein_coding | 2/14 | chr11 | TogoVar | ||||||
MEAF6_chr1_37484993_37519766 | 37504800 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0140 | 1 | 428 | 0.0023 | 20 | c.341 others(37): Show |
MEAF6 | ENSG00000163875.16 | transcript | ENST00000296214.10 | protein_coding | 4/6 | chr1 | TogoVar | ||||||
MEAK7_chr16_84471355_84509659 | 84485673 | C | CCTATCTA others(13): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0003 | a0002c0003t0139 | a0002c0003t0139g0114 | 1 | 468 | 0.0021 | 20 | c.958 others(35): Show |
MEAK7 | ENSG00000140950.16 | transcript | ENST00000343629.11 | protein_coding | 5/7 | chr16 | TogoVar | ||||||
MEAK7_chr16_84471355_84509659 | 84490653 | G | GGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01261.hp2 HG01361.hp1 others(6): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0007 | a0001c0001t0005a0001c0001t0013a0001c0001t0024others(5): Show | a0001c0001t0005g0058a0001c0001t0005g0254a0001c0001t0013g0145others(6): Show | 9 | 468 | 0.0192 | 20 | c.385 others(37): Show |
MEAK7 | ENSG00000140950.16 | transcript | ENST00000343629.11 | protein_coding | 3/7 | chr16 | TogoVar | ||||||
MEAK7_chr16_84471355_84509659 | 84490654 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02965.hp2 |
a0002 | a0002c0008a0002c0013 | a0002c0008t0218a0002c0013t0025 | a0002c0008t0218g0387a0002c0013t0025g0104 | 2 | 468 | 0.0043 | 20 | c.385 others(37): Show |
MEAK7 | ENSG00000140950.16 | transcript | ENST00000343629.11 | protein_coding | 3/7 | chr16 | TogoVar | ||||||
MEAK7_chr16_84471355_84509659 | 84492569 | T | TTTAATTT others(13): Show |
intron_variant | MODIFIER | NA18940.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0396a0001c0001t0012g0411 | 2 | 468 | 0.0043 | 20 | c.384 others(37): Show |
MEAK7 | ENSG00000140950.16 | transcript | ENST00000343629.11 | protein_coding | 3/7 | chr16 | TogoVar | ||||||
MEAK7_chr16_84471355_84509659 | 84492569 | T | TTTTATTT others(13): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00558.hp1 others(59): Show |
a0001a0018 | a0001c0001a0018c0030 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0053a0001c0001t0001g0087a0001c0001t0001g0240others(59): Show | 62 | 468 | 0.1325 | 20 | c.384 others(37): Show |
MEAK7 | ENSG00000140950.16 | transcript | ENST00000343629.11 | protein_coding | 3/7 | chr16 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169097817 | T | TAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0092a0001c0001t0004g0060 | 2 | 160 | 0.0125 | 20 | c.285 others(39): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 12/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169097817 | T | TATAAAAA others(13): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0019 | 1 | 160 | 0.0063 | 20 | c.285 others(39): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 12/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169180794 | G | GATATATA others(13): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0111 | 1 | 160 | 0.0063 | 20 | c.376 others(39): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169378386 | C | CAAGAAAG others(13): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0148 | 1 | 160 | 0.0063 | 20 | c.375 others(37): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169472518 | G | GAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0008 | a0001c0008t0009 | a0001c0008t0009g0143 | 1 | 160 | 0.0063 | 20 | c.38- others(37): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169472518 | G | GAAAGGAA others(13): Show |
intron_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0080 | 1 | 160 | 0.0063 | 20 | c.38- others(37): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169472518 | G | GAAAGGAA others(13): Show |
intron_variant | MODIFIER | HG01243.hp2 HG03516.hp2 NA19066.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0001c0001t0034a0002c0002t0013 | a0001c0001t0008g0107a0001c0001t0034g0020a0002c0002t0013g0047 | 3 | 160 | 0.0188 | 20 | c.38- others(37): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169472533 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0050 | 1 | 160 | 0.0063 | 20 | c.38- others(37): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169472580 | G | GAGGAAAG others(13): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0112 | 1 | 160 | 0.0063 | 20 | c.38- others(37): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169504150 | A | AAGAGAAG others(13): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0135 | 1 | 160 | 0.0063 | 20 | c.38- others(39): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169594174 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0081 | 1 | 160 | 0.0063 | 20 | c.37+ others(37): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169594174 | A | AAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0145 | 1 | 160 | 0.0063 | 20 | c.37+ others(37): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169594178 | A | AAAAAAAC others(13): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01243.hp1 HG02622.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0008others(6): Show | a0001c0001t0005g0103a0001c0001t0007g0134a0001c0001t0008g0107others(8): Show | 11 | 160 | 0.0688 | 20 | c.37+ others(37): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 1/16 | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151081299 | C | CTCCCTTC others(13): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 NA19000.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0022 | a0001c0001t0004g0172a0001c0004t0022g0122 | 2 | 280 | 0.0071 | 20 | c.-47 others(31): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 4364 | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151081375 | T | TCCCTCCC others(13): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 HG01106.hp1 HG02015.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0008a0001c0002t0026a0001c0004t0001others(4): Show | a0001c0001t0008g0274a0001c0002t0026g0259a0001c0004t0001g0256others(5): Show | 8 | 280 | 0.0286 | 20 | c.-46 others(31): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 4288 | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151081420 | C | CCCCTCCC others(13): Show |
upstream_gene_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0008 | a0001c0008t0017 | a0001c0008t0017g0011 | 1 | 280 | 0.0036 | 20 | c.-46 others(31): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 4243 | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151137173 | A | ACAAAAAA others(13): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0039 | a0001c0039t0018 | a0001c0039t0018g0169 | 1 | 280 | 0.0036 | 20 | c.556 others(37): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 5/44 | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151141178 | G | GTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03130.hp1 |
a0004 | a0004c0016a0004c0041 | a0004c0016t0016a0004c0041t0039 | a0004c0016t0016g0080a0004c0041t0039g0144 | 2 | 280 | 0.0071 | 20 | c.556 others(39): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 5/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED12L_chr3_151080664_151441653 | 151141181 | T | TTTTTTTT others(13): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0058 | 1 | 280 | 0.0036 | 20 | c.556 others(39): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 5/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED12L_chr3_151080664_151441653 | 151141181 | T | TTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00544.hp1 others(48): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0004others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(27): Show | a0001c0001t0002g0087a0001c0001t0002g0125a0001c0001t0002g0126others(48): Show | 51 | 280 | 0.1821 | 20 | c.556 others(39): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 5/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED12L_chr3_151080664_151441653 | 151141186 | T | TTTTTTTG others(13): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0023 | a0001c0023t0042 | a0001c0023t0042g0161 | 1 | 280 | 0.0036 | 20 | c.556 others(39): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 5/44 | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151141189 | T | TTTTGTTT others(13): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01928.hp1 HG01943.hp1 others(1): Show |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0005a0002c0003t0004 | a0001c0004t0005g0070a0002c0003t0004g0071a0002c0003t0004g0072others(1): Show | 4 | 280 | 0.0143 | 20 | c.556 others(39): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 5/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED12L_chr3_151080664_151441653 | 151151031 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02486.hp2 HG02572.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0009a0001c0018others(3): Show | a0001c0001t0002a0001c0001t0009a0001c0009t0012others(5): Show | a0001c0001t0002g0052a0001c0001t0002g0200a0001c0001t0009g0134others(6): Show | 9 | 280 | 0.0321 | 20 | c.557 others(37): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 5/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED12L_chr3_151080664_151441653 | 151261685 | G | GTGTTTTG others(13): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0013 | a0001c0013t0024 | a0001c0013t0024g0004 | 1 | 280 | 0.0036 | 20 | c.225 others(41): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 16/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED12L_chr3_151080664_151441653 | 151269397 | T | TCACACAC others(13): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0004 | a0001c0004t0022 | a0001c0004t0022g0122 | 1 | 280 | 0.0036 | 20 | c.225 others(41): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 16/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED12L_chr3_151080664_151441653 | 151270196 | C | CGTGTGTG others(13): Show |
intron_variant | MODIFIER | HG03516.hp1 HG03669.hp1 NA19043.hp2 |
a0001a0002 | a0001c0017a0002c0003 | a0001c0017t0007a0001c0017t0024a0002c0003t0002 | a0001c0017t0007g0202a0001c0017t0024g0002a0002c0003t0002g0056 | 3 | 280 | 0.0107 | 20 | c.225 others(41): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 16/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED12L_chr3_151080664_151441653 | 151293576 | T | TACACACA others(13): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03139.hp1 HG03209.hp2 |
a0001 | a0001c0001a0001c0004a0001c0039 | a0001c0001t0007a0001c0004t0002a0001c0039t0018 | a0001c0001t0007g0159a0001c0004t0002g0138a0001c0039t0018g0169 | 3 | 280 | 0.0107 | 20 | c.225 others(41): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 16/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED12L_chr3_151080664_151441653 | 151299356 | C | CTTTCTTT others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG01069.hp1 others(29): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0004a0001c0005others(11): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0002g0087a0001c0001t0002g0125a0001c0001t0002g0126others(29): Show | 32 | 280 | 0.1143 | 20 | c.225 others(41): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 16/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED12L_chr3_151080664_151441653 | 151299398 | T | TTCTTTTC others(13): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18971.hp1 |
a0001 | a0001c0002a0001c0038 | a0001c0002t0001a0001c0038t0001 | a0001c0002t0001g0117a0001c0038t0001g0231 | 2 | 280 | 0.0071 | 20 | c.225 others(41): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 16/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED12L_chr3_151080664_151441653 | 151368629 | T | TATTTCAT others(13): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02135.hp1 NA18979.hp2 others(1): Show |
a0001 | a0001c0005a0001c0011a0001c0035 | a0001c0005t0001a0001c0005t0002a0001c0011t0001others(1): Show | a0001c0005t0001g0139a0001c0005t0002g0190a0001c0011t0001g0019others(1): Show | 4 | 280 | 0.0143 | 20 | c.355 others(37): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 25/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |