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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KRTAP5-4_chr11_1615958_1627138 | 1621647 | T | TCCTTTGG others(98): Show |
disruptive_inframe_insertion | MODERATE | HG02647.hp2 HG03688.hp2 |
a0008 | a0008c0009 | a0008c0009t0001a0008c0009t0009 | a0008c0009t0001g0000 a0008c0009t0009g0000 |
2 | 427 | 0.0047 | 105 | c.446 others(112): Show |
p.Ser others(118): Show |
KRTAP5-4 | ENSG00000241598.6 | transcript | ENST00000399682.1 | protein_coding | 1/1 | 491/1181 | 446/687 | 149/228 | chr11 | TogoVar | |||
KSR2_chr12_117448012_117973990 | 117606595 | T | TCCTCCCT others(98): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0146 | 1 | 196 | 0.0051 | 105 | c.117 others(126): Show |
KSR2 | ENSG00000171435.15 | transcript | ENST00000339824.7 | protein_coding | 5/19 | chr12 | TogoVar | |||||||
L3MBTL4_chr18_5949717_6419911 | 6003021 | A | AAGTATCT others(98): Show |
intron_variant | MODIFIER | HG02080.hp2 HG02818.hp2 HG03017.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0027 a0001c0001t0002g0062 a0001c0001t0003g0069 others(2): Show |
5 | 94 | 0.0532 | 105 | c.144 others(126): Show |
L3MBTL4 | ENSG00000154655.16 | transcript | ENST00000317931.12 | protein_coding | 16/18 | chr18 | TogoVar | |||||||
LDLRAD4_chr18_13213760_13657751 | 13288757 | C | CGGGGCCA others(98): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 178 | 0.0056 | 105 | c.-38 others(126): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LDLRAD4_chr18_13213760_13657751 | 13288757 | C | CGGGGCCA others(98): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0135 | 1 | 178 | 0.0056 | 105 | c.-38 others(126): Show |
LDLRAD4 | ENSG00000168675.19 | transcript | ENST00000359446.11 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LIN28B_chr6_104952107_105088332 | 105023501 | T | TATTATAT others(98): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 278 | 0.0036 | 105 | c.199 others(122): Show |
LIN28B | ENSG00000187772.8 | transcript | ENST00000345080.5 | protein_coding | 2/3 | chr6 | TogoVar | |||||||
LMLN_chr3_197955217_198048720 | 197977606 | T | TCAAACAA others(98): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0020 | 1 | 258 | 0.0039 | 105 | c.525 others(120): Show |
LMLN | ENSG00000185621.11 | transcript | ENST00000420910.7 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
LMNB2_chr19_2423166_2461959 | 2433165 | G | GTTACCCC others(98): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0142 | 1 | 356 | 0.0028 | 105 | c.148 others(122): Show |
LMNB2 | ENSG00000176619.13 | transcript | ENST00000325327.4 | protein_coding | 8/11 | chr19 | TogoVar | |||||||
LMNB2_chr19_2423166_2461959 | 2433290 | A | ATTCCGGT others(98): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01884.hp1 HG01928.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(1): Show | a0001c0001t0002g0130 a0001c0001t0002g0131 a0001c0001t0003g0008 others(22): Show |
30 | 356 | 0.0843 | 105 | c.148 others(122): Show |
LMNB2 | ENSG00000176619.13 | transcript | ENST00000325327.4 | protein_coding | 8/11 | chr19 | TogoVar | |||||||
LMNB2_chr19_2423166_2461959 | 2433294 | C | CGGTCACC others(98): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG00741.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0120 a0001c0001t0003g0007 a0001c0001t0003g0099 others(11): Show |
16 | 356 | 0.0449 | 105 | c.148 others(122): Show |
LMNB2 | ENSG00000176619.13 | transcript | ENST00000325327.4 | protein_coding | 8/11 | chr19 | TogoVar | |||||||
LMNB2_chr19_2423166_2461959 | 2433668 | C | CCCCCATC others(98): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 356 | 0.0028 | 105 | c.148 others(122): Show |
LMNB2 | ENSG00000176619.13 | transcript | ENST00000325327.4 | protein_coding | 8/11 | chr19 | TogoVar | |||||||
LMNB2_chr19_2423166_2461959 | 2433668 | C | CCCCCATC others(98): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0129 | 1 | 356 | 0.0028 | 105 | c.148 others(122): Show |
LMNB2 | ENSG00000176619.13 | transcript | ENST00000325327.4 | protein_coding | 8/11 | chr19 | TogoVar | |||||||
LMNB2_chr19_2423166_2461959 | 2433693 | A | ACCCCCAT others(98): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0112 | 1 | 356 | 0.0028 | 105 | c.148 others(122): Show |
LMNB2 | ENSG00000176619.13 | transcript | ENST00000325327.4 | protein_coding | 8/11 | chr19 | TogoVar | |||||||
LOC114841035_chr11_64236095_64249132 | 64237123 | G | GAGAGAGA others(98): Show |
upstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 330 | 0.0030 | 105 | c.-41 others(116): Show |
LOC114841035 | ENSG00000286264.2 | transcript | ENST00000652762.2 | protein_coding | 3971 | chr11 | TogoVar | |||||||
LRRTM4_chr2_76742685_77527376 | 77307527 | T | TAATATAT others(98): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0011 | a0001c0001t0002g0081 a0001c0001t0011g0120 |
2 | 128 | 0.0156 | 105 | c.155 others(128): Show |
LRRTM4 | ENSG00000176204.14 | transcript | ENST00000409884.6 | protein_coding | 3/3 | chr2 | TogoVar | |||||||
LSP1_chr11_1848084_1897263 | 1874113 | G | GAGGCCGG others(98): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01168.hp1 HG06807.hp2 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0009 a0002c0001t0001g0017 a0002c0001t0001g0281 others(1): Show |
4 | 360 | 0.0111 | 105 | c.54- others(120): Show |
LSP1 | ENSG00000130592.17 | transcript | ENST00000311604.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 186357 | G | GGGAACAG others(98): Show |
downstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 350 | 0.0029 | 105 | c.*28 others(116): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2632 | chr16 | TogoVar | |||||||
LYPD8_chr1_248734415_248760759 | 248742256 | G | GTTACGCT others(98): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0079 | 1 | 374 | 0.0027 | 105 | c.476 others(122): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
LYPD8_chr1_248734415_248760759 | 248742748 | A | ATTATGCT others(98): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 374 | 0.0027 | 105 | c.475 others(122): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
LYPD8_chr1_248734415_248760759 | 248742956 | G | GAGGTTAC others(98): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0079 a0001c0001t0005g0080 |
2 | 374 | 0.0054 | 105 | c.475 others(122): Show |
LYPD8 | ENSG00000259823.6 | transcript | ENST00000590317.4 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
MAD1L1_chr7_1810795_2237945 | 1986461 | A | ACGCCGGC others(98): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 264 | 0.0038 | 105 | c.141 others(124): Show |
MAD1L1 | ENSG00000002822.16 | transcript | ENST00000265854.12 | protein_coding | 14/18 | chr7 | TogoVar | |||||||
MAEA_chr4_1284891_1345137 | 1330323 | T | TCTCTCTC others(98): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0293 | 1 | 388 | 0.0026 | 105 | c.657 others(122): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAGEC1_chrX_141898894_141914374 | 141905825 | T | TTGAGTAT others(98): Show |
disruptive_inframe_insertion | MODERATE | NA19068.hp1 | a0176 | a0176c0068 | a0176c0068t0001 | a0176c0068t0001g0004 | 1 | 359 | 0.0028 | 105 | c.451 others(112): Show |
p.Ser others(118): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 738/4256 | 452/3429 | 151/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141905881 | C | CCAGTCTC others(98): Show |
conservative_inframe_insertion | MODERATE | HG03540.hp1 | a0129 | a0129c0074 | a0129c0074t0001 | a0129c0074t0001g0001 | 1 | 359 | 0.0028 | 105 | c.483 others(112): Show |
p.Ser others(118): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 770/4256 | 484/3429 | 162/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141906041 | A | ATTTTCCA others(98): Show |
disruptive_inframe_insertion | MODERATE | HG00280.hp1 HG00408.hp2 HG00438.hp1 others(35): Show |
a0004a0007a0008others(17): Show | a0004c0004a0007c0007a0008c0009others(19): Show | a0004c0004t0001a0007c0007t0001a0008c0009t0001others(19): Show | a0004c0004t0001g0001 a0007c0007t0001g0003 a0008c0009t0001g0003 others(20): Show |
38 | 359 | 0.1059 | 105 | c.661 others(112): Show |
p.Arg others(118): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 948/4256 | 662/3429 | 221/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141906056 | C | CCTGAGAG others(98): Show |
disruptive_inframe_insertion | MODERATE | NA19058.hp1 | a0002 | a0002c0085 | a0002c0085t0001 | a0002c0085t0001g0001 | 1 | 359 | 0.0028 | 105 | c.686 others(112): Show |
p.Ala others(118): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 973/4256 | 687/3429 | 229/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141906056 | C | CCTGAGAG others(98): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG00323.hp2 HG00673.hp1 others(15): Show |
a0002a0057a0062others(1): Show | a0002c0003a0002c0093a0057c0038others(2): Show | a0002c0003t0001a0002c0003t0003a0002c0093t0001others(3): Show | a0002c0003t0001g0001 a0002c0003t0003g0005 a0002c0093t0001g0001 others(3): Show |
18 | 359 | 0.0501 | 105 | c.721 others(112): Show |
p.Ser others(118): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 1008/4256 | 722/3429 | 241/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141906056 | C | CCTGAGAG others(98): Show |
disruptive_inframe_insertion | MODERATE | HG02280.hp1 HG02622.hp2 HG02976.hp2 |
a0044a0118 | a0044c0055a0118c0177 | a0044c0055t0001a0118c0177t0001 | a0044c0055t0001g0003 a0118c0177t0001g0003 |
3 | 359 | 0.0084 | 105 | c.661 others(112): Show |
p.Arg others(118): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 948/4256 | 662/3429 | 221/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141906089 | G | GCCCAGTC others(98): Show |
conservative_inframe_insertion | MODERATE | NA18522.hp1 | a0137 | a0137c0101 | a0137c0101t0001 | a0137c0101t0001g0001 | 1 | 359 | 0.0028 | 105 | c.714 others(112): Show |
p.Ser others(118): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 1001/4256 | 715/3429 | 239/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141906098 | C | CCTCTCCA others(98): Show |
disruptive_inframe_insertion | MODERATE | NA18957.hp1 | a0147 | a0147c0087 | a0147c0087t0001 | a0147c0087t0001g0002 | 1 | 359 | 0.0028 | 105 | c.722 others(112): Show |
p.Ser others(13): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 1113/4256 | 827/3429 | 276/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141906100 | T | TCTCCAGA others(98): Show |
disruptive_inframe_insertion | MODERATE | NA19001.hp2 | a0166 | a0166c0092 | a0166c0092t0001 | a0166c0092t0001g0001 | 1 | 359 | 0.0028 | 105 | c.721 others(112): Show |
p.Ser others(118): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 1008/4256 | 722/3429 | 241/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141906140 | C | CTGAGTCT others(98): Show |
disruptive_inframe_insertion | MODERATE | HG00558.hp1 | a0068 | a0068c0174 | a0068c0174t0001 | a0068c0174t0001g0001 | 1 | 359 | 0.0028 | 105 | c.754 others(112): Show |
p.Ser others(118): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 1041/4256 | 755/3429 | 252/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141906146 | C | CTTTTCCA others(98): Show |
disruptive_inframe_insertion | MODERATE | HG01256.hp1 HG01361.hp1 |
a0039 | a0039c0041 | a0039c0041t0001 | a0039c0041t0001g0001 | 2 | 359 | 0.0056 | 105 | c.754 others(112): Show |
p.Ser others(118): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 1041/4256 | 755/3429 | 252/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141906146 | C | CTTTTCCA others(98): Show |
disruptive_inframe_insertion | MODERATE | HG01257.hp1 HG01433.hp1 HG01891.hp2 others(32): Show |
a0004a0007a0008others(18): Show | a0004c0004a0007c0007a0008c0009others(19): Show | a0004c0004t0001a0007c0007t0001a0008c0009t0001others(19): Show | a0004c0004t0001g0001 a0007c0007t0001g0003 a0008c0009t0001g0003 others(21): Show |
35 | 359 | 0.0975 | 105 | c.754 others(112): Show |
p.Ser others(118): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 1041/4256 | 755/3429 | 252/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141906175 | G | GAGTACTT others(98): Show |
conservative_inframe_insertion | MODERATE | NA18940.hp1 | a0139 | a0139c0084 | a0139c0084t0001 | a0139c0084t0001g0001 | 1 | 359 | 0.0028 | 105 | c.798 others(112): Show |
p.Ser others(118): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 1085/4256 | 799/3429 | 267/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141906232 | C | CTCCTCCA others(98): Show |
conservative_inframe_insertion | MODERATE | HG02723.hp1 | a0109 | a0109c0169 | a0109c0169t0003 | a0109c0169t0003g0005 | 1 | 359 | 0.0028 | 105 | c.840 others(112): Show |
p.Leu others(118): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 1127/4256 | 841/3429 | 281/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141906245 | G | GTGAGTAT others(98): Show |
conservative_inframe_insertion | MODERATE | HG02109.hp2 HG02559.hp2 HG03225.hp1 others(1): Show |
a0026a0091 | a0026c0030a0091c0192 | a0026c0030t0001a0091c0192t0001 | a0026c0030t0001g0002 a0091c0192t0001g0002 |
4 | 359 | 0.0111 | 105 | c.846 others(112): Show |
p.Ser others(118): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 1133/4256 | 847/3429 | 283/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141906266 | C | CCTGAGAG others(98): Show |
conservative_inframe_insertion | MODERATE | NA19065.hp2 | a0174 | a0174c0109 | a0174c0109t0001 | a0174c0109t0001g0001 | 1 | 359 | 0.0028 | 105 | c.894 others(112): Show |
p.Phe others(118): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 1181/4256 | 895/3429 | 299/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141906336 | C | CCTCCTCC others(98): Show |
conservative_inframe_insertion | MODERATE | NA18957.hp2 | a0148 | a0148c0146 | a0148c0146t0001 | a0148c0146t0001g0001 | 1 | 359 | 0.0028 | 105 | c.945 others(112): Show |
p.Leu others(118): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 1232/4256 | 946/3429 | 316/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141906356 | C | CTTTTCCA others(98): Show |
disruptive_inframe_insertion | MODERATE | HG03195.hp2 | a0123 | a0123c0124 | a0123c0124t0003 | a0123c0124t0003g0005 | 1 | 359 | 0.0028 | 105 | c.964 others(112): Show |
p.Ser others(118): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 1251/4256 | 965/3429 | 322/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAGEC1_chrX_141898894_141914374 | 141906490 | A | AAGTGCTT others(98): Show |
conservative_inframe_insertion | MODERATE | NA19077.hp2 | a0177 | a0177c0103 | a0177c0103t0001 | a0177c0103t0001g0001 | 1 | 359 | 0.0028 | 105 | c.108 others(114): Show |
p.Ser others(118): Show |
MAGEC1 | ENSG00000155495.9 | transcript | ENST00000285879.5 | protein_coding | 4/4 | 1376/4256 | 1090/3429 | 364/1142 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
MAN1A2_chr1_117362449_117533872 | 117429486 | A | ACCCCCCC others(98): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0149 | a0001c0001t0149g0240 | 1 | 370 | 0.0027 | 105 | c.855 others(122): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MAN2B2_chr4_6570189_6628362 | 6579135 | C | CCATCACC others(98): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0313 | 1 | 362 | 0.0028 | 105 | c.391 others(120): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19478003 | G | GGGGGAGG others(98): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 163 | 0.0061 | 105 | c.525 others(122): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | |||||||
MAP4K4_chr2_101692707_101899690 | 101759670 | C | CCCCCTCC others(98): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0240 | 1 | 310 | 0.0032 | 105 | c.124 others(124): Show |
MAP4K4 | ENSG00000071054.17 | transcript | ENST00000324219.9 | protein_coding | 2/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MARCHF1_chr4_163519718_164389019 | 163894908 | T | TATATACA others(98): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02523.hp1 HG03490.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0018a0001c0002t0002a0002c0003t0010others(1): Show | a0001c0001t0018g0079 a0001c0002t0002g0097 a0002c0003t0010g0058 others(1): Show |
4 | 102 | 0.0392 | 105 | c.-38 others(124): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
MARCHF1_chr4_163519718_164389019 | 163894908 | T | TATATATA others(98): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0001 | 1 | 102 | 0.0098 | 105 | c.-38 others(124): Show |
MARCHF1 | ENSG00000145416.14 | transcript | ENST00000514618.6 | protein_coding | 3/9 | chr4 | TogoVar | |||||||
MAX_chr14_65070127_65107517 | 65097787 | A | ATTTTAAT others(98): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0072 | 1 | 382 | 0.0026 | 105 | c.63+ others(120): Show |
MAX | ENSG00000125952.21 | transcript | ENST00000358664.9 | protein_coding | 2/4 | chr14 | TogoVar | |||||||
MC5R_chr18_13819149_13832323 | 13823328 | A | ACCCACCC others(98): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0004 | 1 | 432 | 0.0023 | 105 | c.-98 others(114): Show |
MC5R | ENSG00000176136.6 | transcript | ENST00000589410.2 | protein_coding | 820 | chr18 | TogoVar | |||||||
MC5R_chr18_13819149_13832323 | 13823328 | A | ACCCACCC others(98): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(122): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0002c0003others(4): Show | a0001c0001t0007a0002c0002t0002a0002c0002t0012others(6): Show | a0001c0001t0007g0018 a0001c0001t0007g0019 a0002c0002t0002g0002 others(11): Show |
125 | 432 | 0.2894 | 105 | c.-98 others(114): Show |
MC5R | ENSG00000176136.6 | transcript | ENST00000589410.2 | protein_coding | 820 | chr18 | TogoVar |