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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
LSP1_chr11_1848084_1897263 | 1872286 | G | GGGCACTT others(87): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(106): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0001others(6): Show | a0001c0002t0001a0001c0003t0001a0002c0001t0001others(10): Show | a0001c0002t0001g0200 a0001c0003t0001g0258 a0001c0003t0001g0285 others(96): Show |
109 | 360 | 0.3028 | 94 | c.54- others(109): Show |
LSP1 | ENSG00000130592.17 | transcript | ENST00000311604.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LTBP1_chr2_32941953_33404509 | 33277760 | C | CCTTTCTT others(87): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0046 | a0001c0046t0001 | a0001c0046t0001g0004 | 1 | 164 | 0.0061 | 94 | c.299 others(113): Show |
LTBP1 | ENSG00000049323.16 | transcript | ENST00000404816.7 | protein_coding | 18/33 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
LUC7L_chr16_183990_234449 | 186170 | G | GGAGGAAC others(87): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0289 | 1 | 350 | 0.0029 | 94 | c.*30 others(105): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2819 | chr16 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 186693 | C | CGGGAGGG others(87): Show |
downstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0328 | 1 | 350 | 0.0029 | 94 | c.*25 others(105): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 2296 | chr16 | TogoVar | |||||||
LUC7L_chr16_183990_234449 | 187054 | G | GGGAACAG others(87): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 350 | 0.0029 | 94 | c.*21 others(105): Show |
LUC7L | ENSG00000007392.17 | transcript | ENST00000293872.13 | protein_coding | 1935 | chr16 | TogoVar | |||||||
LUZP2_chr11_24492053_25087638 | 25030961 | C | CATATAAT others(87): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01256.hp1 HG01258.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0030a0001c0001t0031a0002c0002t0008 | a0001c0001t0030g0108 a0001c0001t0031g0109 a0002c0002t0008g0104 |
3 | 116 | 0.0259 | 94 | c.766 others(113): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MACROD2_chr20_13990516_16058197 | 14862054 | T | TATATATT others(87): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0019 | 1 | 24 | 0.0417 | 94 | c.418 others(115): Show |
MACROD2 | ENSG00000172264.19 | transcript | ENST00000684519.1 | protein_coding | 5/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MAEA_chr4_1284891_1345137 | 1333964 | C | CCCCATGC others(87): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 | 1 | 388 | 0.0026 | 94 | c.765 others(111): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAEA_chr4_1284891_1345137 | 1334062 | C | CCCCATGC others(87): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025 | 1 | 388 | 0.0026 | 94 | c.765 others(111): Show |
MAEA | ENSG00000090316.16 | transcript | ENST00000303400.9 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAGI1_chr3_65348526_66043918 | 65609984 | A | AATAGACC others(87): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00735.hp1 others(63): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0015 others(63): Show |
66 | 104 | 0.6346 | 94 | c.430 others(113): Show |
MAGI1 | ENSG00000151276.24 | transcript | ENST00000402939.7 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
MAN2B2_chr4_6570189_6628362 | 6579331 | C | CCACCACC others(87): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0010 | a0010c0009 | a0010c0009t0016 | a0010c0009t0016g0026 | 1 | 362 | 0.0028 | 94 | c.391 others(109): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MAP3K13_chr3_185358136_185494094 | 185393978 | A | AAAAGTCA others(87): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0127 | 1 | 278 | 0.0036 | 94 | c.-86 others(113): Show |
MAP3K13 | ENSG00000073803.14 | transcript | ENST00000265026.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MAP9_chr4_155337658_155381965 | 155378007 | T | TATATAAT others(87): Show |
upstream_gene_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0008 | a0001c0002t0004g0010 a0001c0002t0008g0035 a0001c0002t0008g0071 others(2): Show |
7 | 416 | 0.0168 | 94 | c.-13 others(105): Show |
MAP9 | ENSG00000164114.19 | transcript | ENST00000311277.9 | protein_coding | 1043 | chr4 | TogoVar | |||||||
MAPK11_chr22_50258713_50275380 | 50274662 | C | CTCCCCCA others(87): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 428 | 0.0023 | 94 | c.-43 others(105): Show |
MAPK11 | ENSG00000185386.15 | transcript | ENST00000330651.11 | protein_coding | 4283 | chr22 | TogoVar | |||||||
MAPK11_chr22_50258713_50275380 | 50274861 | A | ACCACCCC others(87): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0074 | 1 | 428 | 0.0023 | 94 | c.-45 others(105): Show |
MAPK11 | ENSG00000185386.15 | transcript | ENST00000330651.11 | protein_coding | 4482 | chr22 | TogoVar | |||||||
MARCHF5_chr10_92286167_92358964 | 92289780 | T | TATATGTA others(87): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0200 | 1 | 306 | 0.0033 | 94 | c.-17 others(105): Show |
MARCHF5 | ENSG00000198060.10 | transcript | ENST00000358935.3 | protein_coding | 1386 | chr10 | TogoVar | |||||||
MBD3L4_chr19_7032749_7045179 | 7034462 | T | TTTATATA others(87): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 262 | 0.0038 | 94 | c.*33 others(105): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 3286 | chr19 | TogoVar | |||||||
MBOAT1_chr6_20094684_20217469 | 20111881 | T | TATATATA others(87): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0003 | a0003c0003t0037 | a0003c0003t0037g0134 | 1 | 336 | 0.0030 | 94 | c.120 others(111): Show |
MBOAT1 | ENSG00000172197.11 | transcript | ENST00000324607.8 | protein_coding | 11/12 | chr6 | TogoVar | |||||||
MCPH1_chr8_6401627_6653508 | 6505217 | A | ATATTCTT others(87): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02258.hp2 HG02615.hp1 |
a0022a0024 | a0022c0038a0024c0095 | a0022c0038t0074a0022c0038t0075a0024c0095t0031 | a0022c0038t0074g0044 a0022c0038t0075g0043 a0024c0095t0031g0005 |
3 | 262 | 0.0115 | 94 | c.221 others(113): Show |
MCPH1 | ENSG00000147316.15 | transcript | ENST00000344683.10 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MCTP1_chr5_94698690_95290094 | 94954103 | C | CAAATATA others(87): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01261.hp2 HG02027.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0002t0001others(10): Show | a0001c0001t0003g0018 a0001c0001t0004g0011 a0001c0002t0001g0067 others(12): Show |
15 | 98 | 0.1531 | 94 | c.839 others(109): Show |
MCTP1 | ENSG00000175471.20 | transcript | ENST00000515393.6 | protein_coding | 2/22 | chr5 | TogoVar | |||||||
MDGA1_chr6_37625679_37702883 | 37664842 | G | GACACACA others(87): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0147 | 1 | 402 | 0.0025 | 94 | c.68- others(107): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 1/16 | chr6 | TogoVar | |||||||
MDGA1_chr6_37625679_37702883 | 37701163 | A | AAAATATA others(87): Show |
upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0003 | a0001c0003t0037 | a0001c0003t0037g0042 | 1 | 402 | 0.0025 | 94 | c.-43 others(105): Show |
MDGA1 | ENSG00000112139.17 | transcript | ENST00000434837.8 | protein_coding | 3281 | chr6 | TogoVar | |||||||
MELTF_chr3_196996740_197034817 | 197000641 | A | ATGTGCCA others(87): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0076 | 1 | 420 | 0.0024 | 94 | c.*27 others(105): Show |
MELTF | ENSG00000163975.14 | transcript | ENST00000296350.10 | protein_coding | 1098 | chr3 | TogoVar | |||||||
MELTF_chr3_196996740_197034817 | 197000641 | A | ATGTGCCA others(87): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0075 | 1 | 420 | 0.0024 | 94 | c.*26 others(105): Show |
MELTF | ENSG00000163975.14 | transcript | ENST00000296350.10 | protein_coding | 1098 | chr3 | TogoVar | |||||||
MELTF_chr3_196996740_197034817 | 197000688 | G | GTGTGCCA others(87): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 HG02273.hp1 NA18940.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0041 | a0001c0001t0001a0002c0004t0007a0002c0041t0002 | a0001c0001t0001g0289 a0002c0004t0007g0004 a0002c0004t0007g0111 others(3): Show |
10 | 420 | 0.0238 | 94 | c.*26 others(105): Show |
MELTF | ENSG00000163975.14 | transcript | ENST00000296350.10 | protein_coding | 1051 | chr3 | TogoVar | |||||||
METRNL_chr17_83074609_83100122 | 83090230 | A | ACACACCC others(87): Show |
intron_variant | MODIFIER | HG02486.hp2 HG03139.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0113 a0001c0001t0001g0219 a0001c0001t0014g0172 |
3 | 399 | 0.0075 | 94 | c.557 others(111): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
METRNL_chr17_83074609_83100122 | 83090230 | A | ACACACCC others(87): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03453.hp2 NA19043.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0111 a0001c0001t0001g0217 a0001c0001t0002g0112 others(1): Show |
4 | 399 | 0.0100 | 94 | c.557 others(111): Show |
METRNL | ENSG00000176845.13 | transcript | ENST00000320095.12 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MET_chr7_116667196_116803377 | 116726143 | G | GTATATAT others(87): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18995.hp2 |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0148 a0001c0003t0006g0321 |
2 | 340 | 0.0059 | 94 | c.120 others(113): Show |
MET | ENSG00000105976.16 | transcript | ENST00000397752.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MET_chr7_116667196_116803377 | 116726147 | A | ATATATAT others(87): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0231 | 1 | 340 | 0.0029 | 94 | c.120 others(113): Show |
MET | ENSG00000105976.16 | transcript | ENST00000397752.8 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MGAM_chr7_141990879_142111747 | 142067986 | A | ATATATAT others(87): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 | 1 | 316 | 0.0032 | 94 | c.500 others(111): Show |
MGAM | ENSG00000257335.8 | transcript | ENST00000475668.6 | protein_coding | 42/70 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MGA_chr15_41655405_41774940 | 41656344 | T | TTCTCTCT others(87): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0282 | 1 | 292 | 0.0034 | 94 | c.-42 others(105): Show |
MGA | ENSG00000174197.19 | transcript | ENST00000703841.1 | protein_coding | 4060 | chr15 | TogoVar | |||||||
MIS18BP1_chr14_45198190_45258202 | 45256043 | T | TTGGGGGG others(87): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0078 | 1 | 246 | 0.0041 | 94 | c.-31 others(105): Show |
MIS18BP1 | ENSG00000129534.14 | transcript | ENST00000310806.9 | protein_coding | 2842 | chr14 | TogoVar | |||||||
MLXIPL_chr7_73588202_73629522 | 73621730 | C | CCTCCATC others(87): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01255.hp2 HG02145.hp2 others(5): Show |
a0001 | a0001c0001a0001c0006a0001c0009 | a0001c0001t0001a0001c0006t0002a0001c0009t0001 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0249 others(5): Show |
8 | 276 | 0.0290 | 94 | c.293 others(111): Show |
MLXIPL | ENSG00000009950.16 | transcript | ENST00000313375.8 | protein_coding | 1/16 | chr7 | TogoVar | |||||||
MOB3B_chr9_27320209_27534814 | 27357121 | A | AATATATA others(87): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0198 | a0001c0001t0198g0252 | 1 | 320 | 0.0031 | 94 | c.621 others(111): Show |
MOB3B | ENSG00000120162.10 | transcript | ENST00000262244.6 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
MOB3B_chr9_27320209_27534814 | 27357121 | A | AATATATA others(87): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0049 | 1 | 320 | 0.0031 | 94 | c.621 others(111): Show |
MOB3B | ENSG00000120162.10 | transcript | ENST00000262244.6 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
MOB3B_chr9_27320209_27534814 | 27357121 | A | AATATATA others(87): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0134 | 1 | 320 | 0.0031 | 94 | c.621 others(111): Show |
MOB3B | ENSG00000120162.10 | transcript | ENST00000262244.6 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
MOB3B_chr9_27320209_27534814 | 27357121 | A | AATATATA others(87): Show |
intron_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0215 | a0001c0001t0215g0305 | 1 | 320 | 0.0031 | 94 | c.621 others(111): Show |
MOB3B | ENSG00000120162.10 | transcript | ENST00000262244.6 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
MOB3B_chr9_27320209_27534814 | 27357121 | A | AATATATA others(87): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18959.hp1 NA18995.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0240 a0001c0001t0004g0287 a0001c0001t0005g0289 |
3 | 320 | 0.0094 | 94 | c.621 others(111): Show |
MOB3B | ENSG00000120162.10 | transcript | ENST00000262244.6 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
MOB3B_chr9_27320209_27534814 | 27357121 | A | AATATATA others(87): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0007 | 1 | 320 | 0.0031 | 94 | c.621 others(111): Show |
MOB3B | ENSG00000120162.10 | transcript | ENST00000262244.6 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
MOB3B_chr9_27320209_27534814 | 27357121 | A | AATATATA others(87): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0106 | a0001c0001t0106g0074 | 1 | 320 | 0.0031 | 94 | c.621 others(111): Show |
MOB3B | ENSG00000120162.10 | transcript | ENST00000262244.6 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
MOB3B_chr9_27320209_27534814 | 27357121 | A | AATATATA others(87): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0162 | a0001c0001t0162g0149 | 1 | 320 | 0.0031 | 94 | c.621 others(111): Show |
MOB3B | ENSG00000120162.10 | transcript | ENST00000262244.6 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
MOB3B_chr9_27320209_27534814 | 27357144 | A | ATGTATAT others(87): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0230 | a0001c0001t0230g0297 | 1 | 320 | 0.0031 | 94 | c.621 others(111): Show |
MOB3B | ENSG00000120162.10 | transcript | ENST00000262244.6 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
MPI_chr15_74885042_74907219 | 74894107 | T | TGTGTGTG others(87): Show |
intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0078 | 1 | 422 | 0.0024 | 94 | c.670 others(109): Show |
MPI | ENSG00000178802.18 | transcript | ENST00000352410.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MPPED1_chr22_43407014_43512848 | 43432878 | G | GGAGGAGA others(87): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0102 | 1 | 250 | 0.0040 | 94 | c.225 others(111): Show |
MPPED1 | ENSG00000186732.14 | transcript | ENST00000443721.2 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
MROH1_chr8_144143016_144266926 | 144203224 | C | CGGGGGGG others(87): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0090 | 1 | 140 | 0.0071 | 94 | c.114 others(113): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
MRPL42_chr12_93462514_93521214 | 93484971 | C | CATATATA others(87): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0098 | a0001c0001t0098g0208 | 1 | 388 | 0.0026 | 94 | c.220 others(111): Show |
MRPL42 | ENSG00000198015.14 | transcript | ENST00000549982.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MRPL42_chr12_93462514_93521214 | 93484971 | C | CATATATA others(87): Show |
intron_variant | MODIFIER | HG00609.hp2 NA18966.hp2 NA18985.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0010g0054 |
3 | 388 | 0.0077 | 94 | c.220 others(111): Show |
MRPL42 | ENSG00000198015.14 | transcript | ENST00000549982.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MRPL42_chr12_93462514_93521214 | 93484971 | C | CATATATA others(87): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0112 | a0001c0001t0112g0058 | 1 | 388 | 0.0026 | 94 | c.220 others(111): Show |
MRPL42 | ENSG00000198015.14 | transcript | ENST00000549982.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
MRPL45_chr17_38292168_38328211 | 38313311 | A | AAAAAATA others(87): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0241 | 1 | 287 | 0.0035 | 94 | c.462 others(111): Show |
MRPL45 | ENSG00000278845.5 | transcript | ENST00000613675.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
MRPL45_chr17_38292168_38328211 | 38313317 | T | TATATATA others(87): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0240 | 1 | 287 | 0.0035 | 94 | c.462 others(111): Show |
MRPL45 | ENSG00000278845.5 | transcript | ENST00000613675.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |