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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MCF2L2_chr3_183173041_183433619 | 183216574 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG03130.hp1 NA18983.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0010a0001c0001t0017a0002c0002t0001others(2): Show | a0001c0001t0010g0131a0001c0001t0017g0063a0002c0002t0001g0097others(2): Show | 5 | 176 | 0.0284 | -27 | c.237 others(44): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 21/29 | chr3 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113025288 | AGTCTCCG others(20): Show |
A | intron_variant | MODIFIER | NA18946.hp1 NA19085.hp1 |
a0001a0004 | a0001c0003a0004c0011 | a0001c0003t0001a0004c0011t0002 | a0001c0003t0001g0086a0004c0011t0002g0090 | 2 | 116 | 0.0172 | -27 | c.278 others(42): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MCF2L_chr13_112964214_113104742 | 113025558 | AGTCTCTG others(20): Show |
A | intron_variant | MODIFIER | HG01243.hp1 HG03195.hp1 |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0001a0003c0009t0011 | a0001c0001t0001g0002a0003c0009t0011g0101 | 2 | 116 | 0.0172 | -27 | c.278 others(42): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MCF2L_chr13_112964214_113104742 | 113055383 | CACACACA others(20): Show |
C | intron_variant | MODIFIER | HG01257.hp1 HG01361.hp1 HG02109.hp2 |
a0001 | a0001c0005a0001c0008 | a0001c0005t0001a0001c0008t0003 | a0001c0005t0001g0079a0001c0005t0001g0081a0001c0008t0003g0039 | 3 | 116 | 0.0259 | -27 | c.370 others(44): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 4/29 | chr13 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113055385 | CACACACA others(20): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01070.hp1 HG01070.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0030others(29): Show | 32 | 116 | 0.2759 | -27 | c.370 others(44): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 4/29 | chr13 | TogoVar | ||||||
MCF2_chrX_139576770_139713167 | 139709442 | CATATACT others(20): Show |
C | upstream_gene_variant | MODIFIER | HG01261.hp1 HG01496.hp2 HG02132.hp1 others(22): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0004t0003others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(22): Show | 25 | 249 | 0.1004 | -27 | c.-14 others(38): Show |
MCF2 | ENSG00000101977.22 | transcript | ENST00000519895.6 | protein_coding | 1276 | chrX | TogoVar | ||||||
MCPH1_chr8_6401627_6653508 | 6505212 | TATATATA others(20): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00735.hp2 others(43): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0007a0001c0022others(33): Show | a0001c0001t0001a0001c0001t0019a0001c0007t0001others(39): Show | a0001c0001t0001g0025a0001c0001t0001g0159a0001c0001t0001g0250others(43): Show | 46 | 262 | 0.1756 | -27 | c.221 others(46): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MCPH1_chr8_6401627_6653508 | 6505949 | ATGTATAT others(20): Show |
A | intron_variant | MODIFIER | HG03831.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0197 | 1 | 262 | 0.0038 | -27 | c.221 others(46): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MCTP1_chr5_94698690_95290094 | 95061408 | GTTTTTTT others(20): Show |
G | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0013 | a0001c0013t0025 | a0001c0013t0025g0015 | 1 | 98 | 0.0102 | -27 | c.721 others(46): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 95201464 | GTTTTTTT others(20): Show |
G | intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0073 | 1 | 98 | 0.0102 | -27 | c.720 others(46): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
MDFIC2_chr3_70189479_70317638 | 70211483 | TTTCCCTT others(20): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00733.hp1 others(45): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0033others(43): Show | 48 | 370 | 0.1297 | -27 | c.89- others(42): Show |
MDFIC2 | ENSG00000242120.4 | transcript | ENST00000567252.2 | protein_coding | 2/3 | chr3 | TogoVar | ||||||
MDGA1_chr6_37625679_37702883 | 37702219 | GGAGGACA others(20): Show |
G | upstream_gene_variant | MODIFIER | HG02486.hp2 | a0003 | a0003c0009 | a0003c0009t0032 | a0003c0009t0032g0023 | 1 | 402 | 0.0025 | -27 | c.-54 others(38): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 4337 | chr6 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 47017612 | ATTCACAT others(20): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00741.hp1 others(20): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0037a0001c0001t0001g0050a0001c0001t0001g0062others(20): Show | 23 | 120 | 0.1917 | -27 | c.181 others(48): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 8/16 | chr14 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 47155885 | CTTCTTTT others(20): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01169.hp1 others(14): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0072a0001c0001t0002g0056a0001c0001t0003g0092others(14): Show | 17 | 120 | 0.1417 | -27 | c.596 others(46): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 3/16 | chr14 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 47155888 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0064 | 1 | 120 | 0.0083 | -27 | c.596 others(46): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 3/16 | chr14 | TogoVar | ||||||
MDH2_chr7_76043106_76072508 | 76058483 | CCTGAACC others(20): Show |
C | intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 398 | 0.0025 | -27 | c.429 others(42): Show |
MDH2 | ENSG00000146701.12 | transcript | ENST00000315758.10 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ME3_chr11_86436108_86677616 | 86591188 | AGGAGTTG others(20): Show |
A | intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 320 | 0.0031 | -27 | c.184 others(46): Show |
ME3 | ENSG00000151376.19 | transcript | ENST00000543262.6 | protein_coding | 2/14 | chr11 | TogoVar | ||||||
MEAF6_chr1_37484993_37519766 | 37517861 | CCTATTCA others(20): Show |
C | upstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0037 | 1 | 428 | 0.0023 | -27 | c.-31 others(38): Show |
MEAF6 | ENSG00000163875.16 | transcript | ENST00000296214.10 | protein_coding | 3096 | chr1 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169180776 | GTGTGTGT others(20): Show |
G | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0062 | 1 | 160 | 0.0063 | -27 | c.376 others(46): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169191715 | AGAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0045a0002c0002t0003 | a0001c0001t0045g0142a0002c0002t0003g0041 | 2 | 160 | 0.0125 | -27 | c.376 others(46): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169191719 | AAAAAGAA others(20): Show |
A | intron_variant | MODIFIER | HG02717.hp2 NA18968.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0006a0001c0009t0007 | a0001c0001t0006g0116a0001c0009t0007g0132 | 2 | 160 | 0.0125 | -27 | c.376 others(46): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169263100 | TATATATA others(20): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 160 | 0.0063 | -27 | c.375 others(48): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169263102 | TATATATA others(20): Show |
T | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0107 | 1 | 160 | 0.0063 | -27 | c.375 others(48): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169378486 | AGAGAAAG others(20): Show |
A | intron_variant | MODIFIER | HG03471.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0033 | 1 | 160 | 0.0063 | -27 | c.375 others(44): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169378503 | AAGAAAGA others(20): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG02056.hp1 HG02451.hp1 others(1): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0005a0001c0001t0007a0001c0001t0009others(1): Show | a0001c0001t0005g0101a0001c0001t0007g0137a0001c0001t0009g0139others(1): Show | 4 | 160 | 0.0250 | -27 | c.375 others(44): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MECOM_chr3_169078507_169668712 | 169378507 | AAGAAAGA others(20): Show |
A | intron_variant | MODIFIER | HG02886.hp1 NA19070.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0049a0001c0001t0014g0147 | 2 | 160 | 0.0125 | -27 | c.375 others(44): Show |
MECOM | ENSG00000085276.19 | transcript | ENST00000651503.2 | protein_coding | 2/16 | chr3 | TogoVar | ||||||
MED12L_chr3_151080664_151441653 | 151115327 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG02074.hp1 NA19084.hp2 |
a0001 | a0001c0008 | a0001c0008t0002a0001c0008t0048 | a0001c0008t0002g0010a0001c0008t0048g0009 | 2 | 280 | 0.0071 | -27 | c.100 others(42): Show |
MED12L | ENSG00000144893.13 | transcript | ENST00000687756.1 | protein_coding | 2/44 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MED13L_chr12_115953576_116282693 | 116031725 | GAAAAGAA others(20): Show |
G | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0097 | 1 | 254 | 0.0039 | -27 | c.480 others(44): Show |
MED13L | ENSG00000123066.9 | transcript | ENST00000281928.9 | protein_coding | 4/30 | chr12 | TogoVar | ||||||
MED13_chr17_61937605_62070278 | 62062578 | AACACACA others(20): Show |
A | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0309 | 1 | 326 | 0.0031 | -27 | c.301 others(42): Show |
MED13 | ENSG00000108510.10 | transcript | ENST00000397786.7 | protein_coding | 2/29 | chr17 | TogoVar | ||||||
MED22_chr9_133333312_133353131 | 133336153 | ACGACTCA others(20): Show |
A | downstream_gene_variant | MODIFIER | HG02572.hp2 HG02647.hp1 HG02886.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0008a0002c0002t0003g0059 | 6 | 424 | 0.0142 | -27 | c.*53 others(38): Show |
MED22 | ENSG00000148297.16 | transcript | ENST00000343730.10 | protein_coding | 2158 | chr9 | TogoVar | ||||||
MED28_chr4_17609641_17639105 | 17632042 | AATTTTTT others(20): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0065 | 1 | 328 | 0.0031 | -27 | c.*82 others(38): Show |
MED28 | ENSG00000118579.13 | transcript | ENST00000237380.12 | protein_coding | 4/4 | 8245 | chr4 | TogoVar | |||||
MED28_chr4_17609641_17639105 | 17632043 | ATTTTTTT others(20): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02451.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0050a0001c0001t0092others(14): Show | a0001c0001t0030g0016a0001c0001t0030g0100a0001c0001t0050g0022others(15): Show | 18 | 328 | 0.0549 | -27 | c.*82 others(38): Show |
MED28 | ENSG00000118579.13 | transcript | ENST00000237380.12 | protein_coding | 4/4 | 8263 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
MED6_chr14_70578221_70605655 | 70588688 | AAATAATA others(20): Show |
A | intron_variant | MODIFIER | HG02145.hp1 HG02559.hp2 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036a0001c0001t0003g0066a0001c0001t0003g0067 | 4 | 406 | 0.0099 | -27 | c.582 others(44): Show |
MED6 | ENSG00000133997.12 | transcript | ENST00000256379.10 | protein_coding | 6/7 | chr14 | TogoVar | ||||||
MEGF11_chr15_65890299_66258750 | 66020991 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG02145.hp2 HG02572.hp2 others(7): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0050a0001c0001t0001g0145a0001c0001t0002g0174others(7): Show | 10 | 176 | 0.0568 | -27 | c.395 others(46): Show |
MEGF11 | ENSG00000157890.19 | transcript | ENST00000395614.6 | protein_coding | 5/25 | chr15 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3513413 | AGGTGTGC others(20): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0047 | a0047c0127 | a0047c0127t0022 | a0047c0127t0022g0071 | 1 | 292 | 0.0034 | -27 | c.853 others(44): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 7/36 | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3585948 | AGGACGCA others(20): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(77): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0007a0002c0002others(35): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(49): Show | a0001c0001t0001g0156a0001c0001t0001g0158a0001c0001t0001g0159others(77): Show | 80 | 292 | 0.2740 | -27 | c.377 others(44): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
MEIKIN_chr5_131801990_131950663 | 131849356 | GAACCTCT others(20): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00642.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0001a0001c0004t0002 | a0001c0001t0001g0048a0001c0001t0001g0062a0001c0001t0001g0082others(38): Show | 41 | 346 | 0.1185 | -27 | c.975 others(44): Show |
MEIKIN | ENSG00000239642.6 | transcript | ENST00000442687.6 | protein_coding | 11/12 | chr5 | TogoVar | ||||||
MELK_chr9_36567895_36682682 | 36621275 | GAAAAAAA others(20): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG01884.hp2 HG02280.hp2 others(18): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(1): Show | a0001c0002t0001g0179a0001c0002t0001g0180a0001c0002t0001g0181others(18): Show | 21 | 242 | 0.0868 | -27 | c.667 others(44): Show |
MELK | ENSG00000165304.8 | transcript | ENST00000298048.7 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
MEMO1_chr2_31862823_32016008 | 31933252 | TATTACAG others(20): Show |
T | intron_variant | MODIFIER | HG01361.hp1 HG03927.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232a0001c0001t0001g0233a0001c0001t0001g0234 | 3 | 304 | 0.0099 | -27 | c.144 others(44): Show |
MEMO1 | ENSG00000162959.14 | transcript | ENST00000404530.6 | protein_coding | 3/9 | chr2 | TogoVar | ||||||
METTL16_chr17_2411049_2516888 | 2428543 | AAAAAAAA others(20): Show |
A | intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0125 | 1 | 298 | 0.0034 | -27 | c.889 others(44): Show |
METTL16 | ENSG00000127804.13 | transcript | ENST00000263092.11 | protein_coding | 8/9 | chr17 | TogoVar | ||||||
METTL27_chr7_73829590_73847516 | 73835179 | TCCTCTCC others(20): Show |
T | intron_variant | MODIFIER | HG02451.hp1 NA18906.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0127a0002c0002t0001g0132 | 2 | 372 | 0.0054 | -27 | c.479 others(42): Show |
METTL27 | ENSG00000165171.11 | transcript | ENST00000297873.9 | protein_coding | 5/5 | chr7 | TogoVar | ||||||
MGAM2_chr7_142106718_142227324 | 142183950 | CTTTTTTT others(20): Show |
C | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 329 | 0.0030 | -27 | c.392 others(44): Show |
MGAM2 | ENSG00000257743.9 | transcript | ENST00000477922.4 | protein_coding | 33/47 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MGAM_chr7_141990879_142111747 | 142041901 | TATATTAT others(20): Show |
T | intron_variant | MODIFIER | HG03942.hp2 | a0051 | a0051c0055 | a0051c0055t0001 | a0051c0055t0001g0186 | 1 | 316 | 0.0032 | -27 | c.249 others(46): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MGAM_chr7_141990879_142111747 | 142041972 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 316 | 0.0032 | -27 | c.249 others(46): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MGAM_chr7_141990879_142111747 | 142042166 | TATATAAT others(20): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01261.hp1 HG02602.hp1 others(7): Show |
a0001a0002a0023others(1): Show | a0001c0001a0001c0010a0001c0011others(5): Show | a0001c0001t0001a0001c0010t0001a0001c0011t0001others(5): Show | a0001c0001t0001g0285a0001c0010t0001g0225a0001c0011t0001g0289others(7): Show | 10 | 316 | 0.0317 | -27 | c.249 others(46): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MGAM_chr7_141990879_142111747 | 142045404 | TATATATT others(20): Show |
T | intron_variant | MODIFIER | HG02738.hp2 | a0005 | a0005c0085 | a0005c0085t0001 | a0005c0085t0001g0125 | 1 | 316 | 0.0032 | -27 | c.249 others(46): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 21/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
MGAM_chr7_141990879_142111747 | 142067959 | TATATAAA others(20): Show |
T | intron_variant | MODIFIER | HG01361.hp1 HG03669.hp1 |
a0019a0060 | a0019c0035a0060c0049 | a0019c0035t0001a0060c0049t0001 | a0019c0035t0001g0041a0060c0049t0001g0102 | 2 | 316 | 0.0063 | -27 | c.500 others(44): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 42/70 | chr7 | TogoVar | ||||||
MGAT1_chr5_180779780_180807806 | 180805233 | ATTATCCA others(20): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00597.hp2 HG00621.hp1 others(130): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0002c0002others(9): Show | a0001c0001t0002a0001c0001t0011a0001c0001t0026others(67): Show | a0001c0001t0002g0007a0001c0001t0002g0008a0001c0001t0002g0011others(98): Show | 133 | 436 | 0.3051 | -27 | c.-27 others(38): Show |
MGAT1 | ENSG00000131446.17 | transcript | ENST00000307826.5 | protein_coding | 2428 | chr5 | TogoVar | ||||||
MGAT2_chr14_49615799_49628481 | 49627987 | CTATAGAG others(20): Show |
C | downstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 356 | 0.0028 | -27 | c.*53 others(38): Show |
MGAT2 | ENSG00000168282.6 | transcript | ENST00000305386.4 | protein_coding | 4507 | chr14 | TogoVar | ||||||
MGAT4B_chr5_179792610_179811866 | 179800847 | AGCACAAC others(20): Show |
A | intron_variant | MODIFIER | NA18956.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0091 | 1 | 412 | 0.0024 | -27 | c.605 others(40): Show |
MGAT4B | ENSG00000161013.17 | transcript | ENST00000292591.12 | protein_coding | 5/14 | chr5 | TogoVar |