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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LINGO2_chr9_27932617_29218601 | 28848166 | T | TGTATATA others(44): Show |
intron_variant | MODIFIER | HG01074.hp2 HG02109.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0009a0001c0001t0010others(3): Show | a0001c0001t0008g0020a0001c0001t0009g0056a0001c0001t0010g0001others(3): Show | 6 | 62 | 0.0968 | 51 | c.-39 others(72): Show |
LINGO2 | ENSG00000174482.11 | transcript | ENST00000698399.1 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
LIPH_chr3_185501262_185557588 | 185538760 | T | TATATATG others(44): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01081.hp1 NA20752.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0256a0001c0002t0004g0225a0001c0002t0004g0305 | 3 | 358 | 0.0084 | 51 | c.50- others(66): Show |
LIPH | ENSG00000163898.10 | transcript | ENST00000296252.9 | protein_coding | 1/9 | chr3 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 950489 | A | AACGACAG others(44): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 NA18906.hp1 |
a0001a0005a0007 | a0001c0001a0005c0034a0007c0028 | a0001c0001t0001a0005c0034t0015a0007c0028t0004 | a0001c0001t0001g0024a0005c0034t0015g0274a0007c0028t0004g0017 | 3 | 294 | 0.0102 | 51 | c.503 others(68): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
LMF2_chr22_50497949_50512702 | 50504140 | A | ACCCCCCC others(44): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0134 | 1 | 414 | 0.0024 | 51 | c.171 others(68): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | ||||||
LMOD3_chr3_69101065_69127595 | 69110853 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG02056.hp2 NA19085.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0062a0001c0002t0004 | a0001c0001t0062g0129a0001c0002t0004g0359 | 2 | 428 | 0.0047 | 51 | c.165 others(70): Show |
LMOD3 | ENSG00000163380.16 | transcript | ENST00000420581.7 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
LMOD3_chr3_69101065_69127595 | 69110853 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0002 | a0001c0002t0043 | a0001c0002t0043g0346 | 1 | 428 | 0.0023 | 51 | c.165 others(70): Show |
LMOD3 | ENSG00000163380.16 | transcript | ENST00000420581.7 | protein_coding | 2/2 | chr3 | TogoVar | ||||||
LMTK2_chr7_98101862_98214638 | 98140148 | T | TGTCTGTC others(44): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0282 | 1 | 390 | 0.0026 | 51 | c.232 others(68): Show |
LMTK2 | ENSG00000164715.6 | transcript | ENST00000297293.6 | protein_coding | 2/13 | chr7 | TogoVar | ||||||
LMTK2_chr7_98101862_98214638 | 98140149 | T | TTCTGTCT others(44): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0211 | 1 | 390 | 0.0026 | 51 | c.232 others(68): Show |
LMTK2 | ENSG00000164715.6 | transcript | ENST00000297293.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
LMTK2_chr7_98101862_98214638 | 98140149 | T | TTCTGTCT others(44): Show |
intron_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0326 | 1 | 390 | 0.0026 | 51 | c.232 others(68): Show |
LMTK2 | ENSG00000164715.6 | transcript | ENST00000297293.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
LMTK2_chr7_98101862_98214638 | 98140149 | T | TTCTGTCT others(44): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03688.hp1 |
a0001a0007 | a0001c0001a0007c0014 | a0001c0001t0024a0007c0014t0001 | a0001c0001t0024g0260a0007c0014t0001g0212 | 2 | 390 | 0.0051 | 51 | c.232 others(68): Show |
LMTK2 | ENSG00000164715.6 | transcript | ENST00000297293.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
LMTK2_chr7_98101862_98214638 | 98140149 | T | TTCTGTCT others(44): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0013 | a0013c0027 | a0013c0027t0017 | a0013c0027t0017g0250 | 1 | 390 | 0.0026 | 51 | c.232 others(68): Show |
LMTK2 | ENSG00000164715.6 | transcript | ENST00000297293.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
LMX1A_chr1_165196867_165361715 | 165246820 | A | ATTTTGAC others(44): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00621.hp2 HG00738.hp1 others(34): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(14): Show | a0001c0003t0001g0080a0001c0003t0001g0093a0001c0003t0001g0096others(34): Show | 37 | 288 | 0.1285 | 51 | c.496 others(68): Show |
LMX1A | ENSG00000162761.14 | transcript | ENST00000342310.7 | protein_coding | 4/8 | chr1 | TogoVar | ||||||
LOC102723971_chr9_135609183_135624893 | 135620106 | C | CCTACTCC others(44): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0018 | 2 | 450 | 0.0044 | 51 | c.*11 others(62): Show |
LOC102723971 | ENSG00000236543.3 | transcript | ENST00000430816.3 | protein_coding | 214 | chr9 | TogoVar | ||||||
LOC114841035_chr11_64236095_64249132 | 64237126 | G | GAGAGAGA others(44): Show |
upstream_gene_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 330 | 0.0030 | 51 | c.-41 others(62): Show |
LOC114841035 | ENSG00000286264.2 | transcript | ENST00000652762.2 | protein_coding | 3968 | chr11 | TogoVar | ||||||
LOC114841035_chr11_64236095_64249132 | 64237126 | G | GAGAGAGA others(44): Show |
upstream_gene_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 330 | 0.0030 | 51 | c.-41 others(62): Show |
LOC114841035 | ENSG00000286264.2 | transcript | ENST00000652762.2 | protein_coding | 3968 | chr11 | TogoVar | ||||||
LOC114841035_chr11_64236095_64249132 | 64237126 | G | GAGAGAGA others(44): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 NA19005.hp2 NA19007.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0001a0001c0001t0008g0001 | 5 | 330 | 0.0152 | 51 | c.-41 others(62): Show |
LOC114841035 | ENSG00000286264.2 | transcript | ENST00000652762.2 | protein_coding | 3968 | chr11 | TogoVar | ||||||
LOC128125816_chr12_122221430_122231564 | 122226363 | A | AGGGAGGC others(44): Show |
downstream_gene_variant | MODIFIER | HG00621.hp2 HG03579.hp2 NA19007.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0000 | 4 | 372 | 0.0108 | 51 | c.*16 others(58): Show |
LOC128125816 | ENSG00000284934.3 | transcript | ENST00000713558.1 | protein_coding | 66 | chr12 | TogoVar | ||||||
LOC128462377_chr16_89312046_89423292 | 89328624 | G | GGACACAC others(44): Show |
intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0158 | 1 | 366 | 0.0027 | 51 | c.10- others(68): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | ||||||
LOC128462377_chr16_89312046_89423292 | 89328861 | T | TGGAGGCC others(44): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0000 | a0001c0001t0000g0044 | 1 | 366 | 0.0027 | 51 | c.10- others(68): Show |
LOC128462377 | ENSG00000288715.2 | transcript | ENST00000711617.1 | protein_coding | 1/1 | chr16 | TogoVar | ||||||
LRBA_chr4_150259435_151020284 | 150658505 | G | GTCTCCTC others(44): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02109.hp1 HG02572.hp2 others(1): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0001a0001c0001t0002a0007c0009t0003 | a0001c0001t0001g0027a0001c0001t0001g0153a0001c0001t0002g0036others(1): Show | 4 | 180 | 0.0222 | 51 | c.592 others(72): Show |
LRBA | ENSG00000198589.15 | transcript | ENST00000651943.2 | protein_coding | 37/56 | chr4 | TogoVar | ||||||
LRCOL1_chr12_132598151_132615582 | 132598383 | T | TCCTCTCC others(44): Show |
downstream_gene_variant | MODIFIER | HG02080.hp2 NA18973.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 390 | 0.0051 | 51 | c.*50 others(62): Show |
LRCOL1 | ENSG00000204583.10 | transcript | ENST00000376608.9 | protein_coding | 4767 | chr12 | TogoVar | ||||||
LRCOL1_chr12_132598151_132615582 | 132598555 | G | GCTCCTCT others(44): Show |
downstream_gene_variant | MODIFIER | HG02155.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 390 | 0.0026 | 51 | c.*48 others(62): Show |
LRCOL1 | ENSG00000204583.10 | transcript | ENST00000376608.9 | protein_coding | 4595 | chr12 | TogoVar | ||||||
LRFN2_chr6_40386591_40592364 | 40577103 | C | CTCTTCTC others(44): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01169.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0002c0005t0005 | a0001c0001t0001g0011a0002c0005t0005g0033 | 2 | 228 | 0.0088 | 51 | c.-19 others(68): Show |
LRFN2 | ENSG00000156564.10 | transcript | ENST00000338305.7 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
LRFN2_chr6_40386591_40592364 | 40577108 | C | CTCTTCTC others(44): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01192.hp1 HG02818.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0002others(4): Show | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0072others(13): Show | 16 | 228 | 0.0702 | 51 | c.-19 others(68): Show |
LRFN2 | ENSG00000156564.10 | transcript | ENST00000338305.7 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
LRFN2_chr6_40386591_40592364 | 40583202 | A | ATATATAC others(44): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0001 | 1 | 228 | 0.0044 | 51 | c.-19 others(68): Show |
LRFN2 | ENSG00000156564.10 | transcript | ENST00000338305.7 | protein_coding | 1/2 | chr6 | TogoVar | ||||||
LRIF1_chr1_110942190_110968922 | 110957470 | C | CAAAAAAA others(44): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0184 | 1 | 446 | 0.0022 | 51 | c.69- others(66): Show |
LRIF1 | ENSG00000121931.16 | transcript | ENST00000369763.5 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
LRIG2_chr1_113068198_113137260 | 113070235 | T | TGCCCGGC others(44): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0111 | 1 | 268 | 0.0037 | 51 | c.-31 others(62): Show |
LRIG2 | ENSG00000198799.12 | transcript | ENST00000361127.6 | protein_coding | 2962 | chr1 | TogoVar | ||||||
LRIG2_chr1_113068198_113137260 | 113070267 | T | TGGGGGGG others(44): Show |
upstream_gene_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 268 | 0.0037 | 51 | c.-31 others(62): Show |
LRIG2 | ENSG00000198799.12 | transcript | ENST00000361127.6 | protein_coding | 2930 | chr1 | TogoVar | ||||||
LRIT3_chr4_109843107_109877315 | 109850422 | C | CCTTCTTT others(44): Show |
intron_variant | MODIFIER | NA19072.hp2 NA19080.hp1 |
a0002 | a0002c0001 | a0002c0001t0003a0002c0001t0004 | a0002c0001t0003g0241a0002c0001t0004g0242 | 2 | 332 | 0.0060 | 51 | c.117 others(68): Show |
LRIT3 | ENSG00000183423.12 | transcript | ENST00000594814.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
LRIT3_chr4_109843107_109877315 | 109850422 | C | CTTTCTTT others(44): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0051 | 1 | 332 | 0.0030 | 51 | c.117 others(68): Show |
LRIT3 | ENSG00000183423.12 | transcript | ENST00000594814.6 | protein_coding | 1/3 | chr4 | TogoVar | ||||||
LRRC71_chr1_156915632_156938094 | 156928363 | C | CTCTTCTT others(44): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 402 | 0.0025 | 51 | c.996 others(66): Show |
LRRC71 | ENSG00000160838.14 | transcript | ENST00000337428.8 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
LRRC74A_chr14_76821408_76875304 | 76821921 | T | TGGGGGGG others(44): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG02056.hp1 HG03831.hp1 others(1): Show |
a0001a0005 | a0001c0001a0001c0004a0001c0008others(1): Show | a0001c0001t0002a0001c0004t0001a0001c0008t0001others(1): Show | a0001c0001t0002g0279a0001c0004t0001g0307a0001c0008t0001g0249others(1): Show | 4 | 408 | 0.0098 | 51 | c.-47 others(62): Show |
LRRC74A | ENSG00000100565.16 | transcript | ENST00000689127.1 | protein_coding | 4486 | chr14 | TogoVar | ||||||
LRTM1_chr3_54913231_54933059 | 54932061 | A | ATTAATTA others(44): Show |
upstream_gene_variant | MODIFIER | HG02809.hp1 | a0003 | a0003c0015 | a0003c0015t0027 | a0003c0015t0027g0090 | 1 | 348 | 0.0029 | 51 | c.-41 others(62): Show |
LRTM1 | ENSG00000144771.8 | transcript | ENST00000273286.6 | protein_coding | 4003 | chr3 | TogoVar | ||||||
LSM8_chr7_118179164_118209035 | 118202771 | G | GTGATTCT others(44): Show |
3_prime_UTR_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0111 | a0001c0001t0111g0003 | 1 | 414 | 0.0024 | 51 | c.*10 others(64): Show |
LSM8 | ENSG00000128534.8 | transcript | ENST00000249299.7 | protein_coding | 4/4 | 10772 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
LSP1_chr11_1848084_1897263 | 1873969 | G | GGAGGAGG others(44): Show |
intron_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0021 | 2 | 360 | 0.0056 | 51 | c.54- others(66): Show |
LSP1 | ENSG00000130592.17 | transcript | ENST00000311604.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LSP1_chr11_1848084_1897263 | 1873969 | G | GGAGGAGG others(44): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(65): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0001others(4): Show | a0001c0002t0001a0001c0003t0001a0001c0003t0008others(7): Show | a0001c0002t0001g0005a0001c0002t0001g0023a0001c0002t0001g0025others(51): Show | 68 | 360 | 0.1889 | 51 | c.54- others(66): Show |
LSP1 | ENSG00000130592.17 | transcript | ENST00000311604.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LSP1_chr11_1848084_1897263 | 1874071 | A | AGAGGAGG others(44): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01981.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003a0001c0002t0001g0131 | 2 | 360 | 0.0056 | 51 | c.54- others(66): Show |
LSP1 | ENSG00000130592.17 | transcript | ENST00000311604.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
LYAR_chr4_4262701_4295154 | 4263865 | A | AGGCTGGA others(44): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG00673.hp2 HG00735.hp1 others(28): Show |
a0001a0002a0005 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0013others(25): Show | 31 | 436 | 0.0711 | 51 | c.*40 others(62): Show |
LYAR | ENSG00000145220.14 | transcript | ENST00000343470.9 | protein_coding | 3835 | chr4 | TogoVar | ||||||
LYPLA1_chr8_54041367_54106947 | 54084133 | A | AAAAAAAA others(44): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 306 | 0.0033 | 51 | c.101 others(70): Show |
LYPLA1 | ENSG00000120992.18 | transcript | ENST00000316963.8 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
MAGEB2_chrX_30210563_30225089 | 30211343 | T | TCACACAC others(44): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 320 | 0.0031 | 51 | c.-43 others(62): Show |
MAGEB2 | ENSG00000099399.6 | transcript | ENST00000378988.5 | protein_coding | 4219 | chrX | TogoVar | ||||||
MAN1A2_chr1_117362449_117533872 | 117429505 | G | GGACGGGG others(44): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0009 | a0001c0009t0044 | a0001c0009t0044g0009 | 1 | 370 | 0.0027 | 51 | c.855 others(68): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAN1A2_chr1_117362449_117533872 | 117429535 | A | ACCCCCCC others(44): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01109.hp2 HG01255.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0016a0001c0001t0043a0001c0001t0044others(4): Show | a0001c0001t0016g0012a0001c0001t0016g0016a0001c0001t0016g0017others(6): Show | 9 | 370 | 0.0243 | 51 | c.855 others(68): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAN1A2_chr1_117362449_117533872 | 117429537 | C | CCCCCCCA others(44): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0056a0001c0001t0048g0067 | 2 | 370 | 0.0054 | 51 | c.855 others(68): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAN1A2_chr1_117362449_117533872 | 117429537 | C | CCCCCCCA others(44): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02818.hp2 HG02922.hp1 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0096a0001c0001t0101a0001c0001t0102others(5): Show | a0001c0001t0096g0026a0001c0001t0101g0001a0001c0001t0102g0025others(5): Show | 8 | 370 | 0.0216 | 51 | c.855 others(68): Show |
MAN1A2 | ENSG00000198162.12 | transcript | ENST00000356554.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MAN2B2_chr4_6570189_6628362 | 6579289 | T | TCACCACC others(44): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 362 | 0.0028 | 51 | c.391 others(66): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MAN2B2_chr4_6570189_6628362 | 6579542 | T | TGGTTCTC others(44): Show |
intron_variant | MODIFIER | HG02572.hp2 NA20129.hp1 |
a0003a0022 | a0003c0070a0022c0069 | a0003c0070t0002a0022c0069t0003 | a0003c0070t0002g0034a0022c0069t0003g0033 | 2 | 362 | 0.0055 | 51 | c.391 others(68): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
MAP3K13_chr3_185358136_185494094 | 185454996 | T | TGATATAT others(44): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0212 | 1 | 278 | 0.0036 | 51 | c.127 others(70): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MAP3K13_chr3_185358136_185494094 | 185455288 | T | TATATATG others(44): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0200 | 1 | 278 | 0.0036 | 51 | c.127 others(70): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MAP3K13_chr3_185358136_185494094 | 185455319 | G | GAGATATA others(44): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0212 | 1 | 278 | 0.0036 | 51 | c.127 others(70): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
MAP3K15_chrX_19355059_19520508 | 19478085 | A | AGGGGGGA others(44): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0003 | 1 | 163 | 0.0061 | 51 | c.525 others(68): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar |