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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MBTD1_chr17_51172425_51265049 | 51179481 | A | ATTATATA others(19): Show |
3_prime_UTR_variant | MODIFIER | HG04199.hp2 NA18952.hp1 |
a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0268a0001c0001t0052g0328 | 2 | 340 | 0.0059 | 26 | c.*10 others(37): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 17/17 | 1094 | chr17 | TogoVar | |||||
MBTD1_chr17_51172425_51265049 | 51179482 | T | TTATATAT others(19): Show |
3_prime_UTR_variant | MODIFIER | HG02273.hp1 HG02293.hp1 NA18959.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0271a0001c0001t0009g0289a0001c0001t0009g0296others(2): Show | 5 | 340 | 0.0147 | 26 | c.*10 others(37): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 17/17 | 1093 | chr17 | TogoVar | |||||
MBTD1_chr17_51172425_51265049 | 51179488 | A | ATATATAT others(19): Show |
3_prime_UTR_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0096 | a0001c0001t0096g0047 | 1 | 340 | 0.0029 | 26 | c.*10 others(37): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 17/17 | 1087 | chr17 | TogoVar | |||||
MBTD1_chr17_51172425_51265049 | 51179515 | T | TATATTCA others(19): Show |
3_prime_UTR_variant | MODIFIER | HG02572.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0020a0001c0001t0059g0029 | 2 | 340 | 0.0059 | 26 | c.*10 others(37): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 17/17 | 1060 | chr17 | TogoVar | |||||
MBTD1_chr17_51172425_51265049 | 51190750 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0033 | 1 | 340 | 0.0029 | 26 | c.176 others(45): Show |
MBTD1 | ENSG00000011258.16 | transcript | ENST00000586178.6 | protein_coding | 16/16 | chr17 | TogoVar | ||||||
MBTPS2_chrX_21834617_21890423 | 21862933 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG00323.hp1 HG03704.hp1 HG04204.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0192a0001c0001t0001g0202a0001c0001t0001g0215others(6): Show | 9 | 308 | 0.0292 | 26 | c.671 others(43): Show |
MBTPS2 | ENSG00000012174.12 | transcript | ENST00000379484.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
MC4R_chr18_60366062_60377775 | 60374892 | A | ATATATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0000 | 1 | 428 | 0.0023 | 26 | c.-25 others(37): Show |
MC4R | ENSG00000166603.5 | transcript | ENST00000299766.5 | protein_coding | 2118 | chr18 | TogoVar | ||||||
MC4R_chr18_60366062_60377775 | 60374892 | A | ATATATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 428 | 0.0047 | 26 | c.-25 others(37): Show |
MC4R | ENSG00000166603.5 | transcript | ENST00000299766.5 | protein_coding | 2118 | chr18 | TogoVar | ||||||
MC4R_chr18_60366062_60377775 | 60374892 | A | ATATATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 428 | 0.0023 | 26 | c.-25 others(37): Show |
MC4R | ENSG00000166603.5 | transcript | ENST00000299766.5 | protein_coding | 2118 | chr18 | TogoVar | ||||||
MC4R_chr18_60366062_60377775 | 60374892 | A | ATATATAT others(19): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0000 | 1 | 428 | 0.0023 | 26 | c.-25 others(37): Show |
MC4R | ENSG00000166603.5 | transcript | ENST00000299766.5 | protein_coding | 2118 | chr18 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113046710 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18970.hp2 NA19002.hp1 NA20805.hp2 |
a0001a0002 | a0001c0004a0001c0026a0002c0001 | a0001c0004t0003a0001c0026t0003a0002c0001t0003 | a0001c0004t0003g0093a0001c0026t0003g0082a0002c0001t0003g0137 | 3 | 160 | 0.0188 | 26 | c.265 others(45): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 16/18 | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113086749 | C | CGGTCCTT others(19): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01243.hp2 HG02559.hp1 others(2): Show |
a0001a0003a0005others(1): Show | a0001c0027a0001c0047a0003c0039others(2): Show | a0001c0027t0001a0001c0047t0002a0003c0039t0004others(2): Show | a0001c0027t0001g0071a0001c0047t0002g0041a0003c0039t0004g0029others(2): Show | 5 | 160 | 0.0313 | 26 | c.139 others(45): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 8/18 | chr5 | TogoVar | ||||||
MCC_chr5_113017106_113493453 | 113132379 | T | TATATACA others(19): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0043 | a0001c0043t0021 | a0001c0043t0021g0043 | 1 | 160 | 0.0063 | 26 | c.885 others(43): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 5/18 | chr5 | TogoVar | ||||||
MCEE_chr2_71104687_71135229 | 71125211 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG00642.hp2 NA20905.hp2 |
a0003a0007 | a0003c0003a0007c0008 | a0003c0003t0001a0007c0008t0001 | a0003c0003t0001g0212a0007c0008t0001g0213 | 2 | 418 | 0.0048 | 26 | c.41- others(39): Show |
MCEE | ENSG00000124370.11 | transcript | ENST00000244217.6 | protein_coding | 1/2 | chr2 | TogoVar | ||||||
MCEE_chr2_71104687_71135229 | 71125211 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG01346.hp1 HG03654.hp2 NA19064.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0060a0003c0003t0001g0207 | 3 | 418 | 0.0072 | 26 | c.41- others(39): Show |
MCEE | ENSG00000124370.11 | transcript | ENST00000244217.6 | protein_coding | 1/2 | chr2 | TogoVar | ||||||
MCEE_chr2_71104687_71135229 | 71125211 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02602.hp1 HG02683.hp1 HG02735.hp2 others(1): Show |
a0003 | a0003c0003a0003c0006 | a0003c0003t0001a0003c0006t0001 | a0003c0003t0001g0202a0003c0003t0001g0203a0003c0006t0001g0057 | 4 | 418 | 0.0096 | 26 | c.41- others(39): Show |
MCEE | ENSG00000124370.11 | transcript | ENST00000244217.6 | protein_coding | 1/2 | chr2 | TogoVar | ||||||
MCEMP1_chr19_7672090_7684829 | 7674859 | C | CTTTTTTT others(19): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 2 | 448 | 0.0045 | 26 | c.-22 others(37): Show |
MCEMP1 | ENSG00000183019.8 | transcript | ENST00000333598.8 | protein_coding | 2230 | chr19 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183228028 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0015 | a0015c0018 | a0015c0018t0003 | a0015c0018t0003g0045 | 1 | 176 | 0.0057 | 26 | c.211 others(43): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 18/29 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183269230 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01257.hp2 HG02970.hp1 others(3): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0005 | a0001c0001t0005a0001c0001t0012a0002c0002t0006others(2): Show | a0001c0001t0005g0172a0001c0001t0012g0068a0002c0002t0006g0117others(3): Show | 6 | 176 | 0.0341 | 26 | c.186 others(45): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 15/29 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183298765 | G | GCGCGCGC others(19): Show |
intron_variant | MODIFIER | HG02074.hp2 NA19088.hp2 |
a0006 | a0006c0006 | a0006c0006t0003 | a0006c0006t0003g0029a0006c0006t0003g0064 | 2 | 176 | 0.0114 | 26 | c.130 others(45): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 11/29 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183298765 | G | GCGCGCGC others(19): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0122 | 1 | 176 | 0.0057 | 26 | c.130 others(45): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 11/29 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183313232 | A | AACACACA others(19): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01884.hp2 HG02109.hp2 |
a0009a0025 | a0009c0010a0025c0031 | a0009c0010t0013a0025c0031t0003 | a0009c0010t0013g0070a0009c0010t0013g0116a0025c0031t0003g0074 | 3 | 176 | 0.0171 | 26 | c.754 others(43): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 7/29 | chr3 | TogoVar | ||||||
MCF2L2_chr3_183173041_183433619 | 183317837 | A | AAGACTCA others(19): Show |
intron_variant | MODIFIER | HG02896.hp1 HG03471.hp2 HG03579.hp2 |
a0001a0004a0008 | a0001c0001a0004c0004a0008c0008 | a0001c0001t0002a0004c0004t0021a0008c0008t0006 | a0001c0001t0002g0161a0004c0004t0021g0149a0008c0008t0006g0016 | 3 | 176 | 0.0171 | 26 | c.753 others(41): Show |
MCF2L2 | ENSG00000053524.13 | transcript | ENST00000328913.8 | protein_coding | 7/29 | chr3 | TogoVar | ||||||
MCF2L_chr13_112964214_113104742 | 113040412 | C | CTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01168.hp1 HG01346.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0037a0001c0001t0002g0048a0001c0001t0004g0070others(6): Show | 9 | 116 | 0.0776 | 26 | c.279 others(43): Show |
MCF2L | ENSG00000126217.22 | transcript | ENST00000535094.7 | protein_coding | 3/29 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
MCOLN1_chr19_7517624_7539009 | 7518557 | G | GAAAGAAA others(19): Show |
upstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 414 | 0.0024 | 26 | c.-41 others(37): Show |
MCOLN1 | ENSG00000090674.16 | transcript | ENST00000264079.11 | protein_coding | 4066 | chr19 | TogoVar | ||||||
MCOLN1_chr19_7517624_7539009 | 7518557 | G | GAGAGAAA others(19): Show |
upstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | 26 | c.-41 others(37): Show |
MCOLN1 | ENSG00000090674.16 | transcript | ENST00000264079.11 | protein_coding | 4066 | chr19 | TogoVar | ||||||
MCOLN1_chr19_7517624_7539009 | 7518557 | G | GAGAGAGA others(19): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 414 | 0.0024 | 26 | c.-41 others(37): Show |
MCOLN1 | ENSG00000090674.16 | transcript | ENST00000264079.11 | protein_coding | 4066 | chr19 | TogoVar | ||||||
MCOLN1_chr19_7517624_7539009 | 7518599 | G | GAAAGAAA others(19): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 HG02717.hp1 HG03540.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0020a0001c0001t0001g0139a0001c0002t0001g0051 | 3 | 414 | 0.0073 | 26 | c.-41 others(37): Show |
MCOLN1 | ENSG00000090674.16 | transcript | ENST00000264079.11 | protein_coding | 4024 | chr19 | TogoVar | ||||||
MCOLN2_chr1_84920583_85002113 | 84922438 | G | GTGTGTAT others(19): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG02040.hp1 HG02258.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0319a0001c0001t0003g0188a0001c0001t0003g0190others(1): Show | 4 | 350 | 0.0114 | 26 | c.*42 others(37): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 3144 | chr1 | TogoVar | ||||||
MCOLN2_chr1_84920583_85002113 | 84922438 | G | GTGTGTGT others(19): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0046 | 1 | 350 | 0.0029 | 26 | c.*42 others(37): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 3144 | chr1 | TogoVar | ||||||
MCOLN2_chr1_84920583_85002113 | 84922462 | A | ATATATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 HG01243.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0150a0001c0001t0004g0181 | 2 | 350 | 0.0057 | 26 | c.*42 others(37): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 3120 | chr1 | TogoVar | ||||||
MCOLN2_chr1_84920583_85002113 | 84922462 | A | ATATATAT others(19): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0044 | 1 | 350 | 0.0029 | 26 | c.*42 others(37): Show |
MCOLN2 | ENSG00000153898.13 | transcript | ENST00000370608.8 | protein_coding | 3120 | chr1 | TogoVar | ||||||
MCPH1_chr8_6401627_6653508 | 6562552 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0004 | a0004c0006 | a0004c0006t0034 | a0004c0006t0034g0084 | 1 | 262 | 0.0038 | 26 | c.221 others(47): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
MCTP1_chr5_94698690_95290094 | 94752108 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01884.hp1 HG03471.hp1 |
a0001 | a0001c0003a0001c0011 | a0001c0003t0022a0001c0003t0032a0001c0011t0003 | a0001c0003t0022g0003a0001c0003t0032g0035a0001c0011t0003g0061 | 3 | 98 | 0.0306 | 26 | c.261 others(47): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 19/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 94947577 | T | TATATATA others(19): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0025 | 1 | 98 | 0.0102 | 26 | c.982 others(43): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 3/22 | chr5 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 95257796 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0036 | 1 | 98 | 0.0102 | 26 | c.720 others(45): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 1/22 | chr5 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94242954 | T | TATACACG others(19): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00639.hp1 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0097a0001c0001t0001g0184a0001c0001t0001g0189others(28): Show | 31 | 276 | 0.1123 | 26 | c.-66 others(45): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94243437 | A | ATACATAC others(19): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0275 | 1 | 276 | 0.0036 | 26 | c.-66 others(45): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94267869 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03540.hp1 NA19068.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0001g0097a0001c0001t0003g0093a0001c0001t0011g0171others(3): Show | 6 | 276 | 0.0217 | 26 | c.-65 others(45): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94485437 | G | GCACACAC others(19): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02622.hp1 HG03225.hp2 |
a0001a0013 | a0001c0001a0013c0023 | a0001c0001t0001a0013c0023t0001 | a0001c0001t0001g0103a0001c0001t0001g0104a0013c0023t0001g0032 | 3 | 276 | 0.0109 | 26 | c.*64 others(37): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1486 | chr15 | TogoVar | ||||||
MCU_chr10_72687143_72892694 | 72707647 | G | GTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 210 | 0.0048 | 26 | c.150 others(45): Show |
MCU | ENSG00000156026.15 | transcript | ENST00000373053.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MCU_chr10_72687143_72892694 | 72780511 | A | AGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG04204.hp2 NA18967.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045a0001c0001t0001g0096 | 2 | 210 | 0.0095 | 26 | c.151 others(45): Show |
MCU | ENSG00000156026.15 | transcript | ENST00000373053.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MCU_chr10_72687143_72892694 | 72805155 | C | CTTTCTTT others(19): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 210 | 0.0048 | 26 | c.151 others(45): Show |
MCU | ENSG00000156026.15 | transcript | ENST00000373053.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MCU_chr10_72687143_72892694 | 72832932 | C | CTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 NA18522.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0109a0001c0001t0001g0113a0001c0002t0001g0001 | 3 | 210 | 0.0143 | 26 | c.151 others(43): Show |
MCU | ENSG00000156026.15 | transcript | ENST00000373053.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MCU_chr10_72687143_72892694 | 72832934 | A | ATGTGTGT others(19): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01123.hp2 HG01517.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0141a0001c0001t0001g0152a0001c0001t0001g0166others(2): Show | 5 | 210 | 0.0238 | 26 | c.151 others(43): Show |
MCU | ENSG00000156026.15 | transcript | ENST00000373053.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
MDFI_chr6_41633468_41659244 | 41656228 | A | ACACACAC others(19): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00609.hp2 HG00673.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0016others(16): Show | 21 | 462 | 0.0455 | 26 | c.*26 others(37): Show |
MDFI | ENSG00000112559.15 | transcript | ENST00000230321.11 | protein_coding | 1985 | chr6 | TogoVar | ||||||
MDFI_chr6_41633468_41659244 | 41656228 | A | ACACACAC others(19): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00621.hp2 others(45): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(39): Show | 48 | 462 | 0.1039 | 26 | c.*26 others(37): Show |
MDFI | ENSG00000112559.15 | transcript | ENST00000230321.11 | protein_coding | 1985 | chr6 | TogoVar | ||||||
MDGA1_chr6_37625679_37702883 | 37664842 | G | GACACACA others(19): Show |
intron_variant | MODIFIER | HG03516.hp1 NA19003.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014 | a0001c0001t0004g0152a0001c0001t0014g0311 | 2 | 402 | 0.0050 | 26 | c.68- others(39): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 1/16 | chr6 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 46938540 | C | CAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA20805.hp1 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0020 | a0001c0001t0003g0118a0001c0001t0020g0029 | 2 | 120 | 0.0167 | 26 | c.209 others(47): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 9/16 | chr14 | TogoVar | ||||||
MDGA2_chr14_46835092_47680605 | 47079727 | A | ATTTTTTT others(19): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0104 | 1 | 120 | 0.0083 | 26 | c.119 others(47): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 6/16 | chr14 | TogoVar |