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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC16A2_chrX_74416493_74538916 | 74504964 | CG | C | intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0106 | 1 | 235 | 0.0043 | -1 | c.431 others(10): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC16A2_chrX_74416493_74538916 | 74506256 | AG | A | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 235 | 0.0043 | -1 | c.431 others(10): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC16A2_chrX_74416493_74538916 | 74506616 | GT | G | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 235 | 0.0043 | -1 | c.431 others(10): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC16A2_chrX_74416493_74538916 | 74506936 | TA | T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 235 | 0.0043 | -1 | c.431 others(10): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 1/5 | chrX | TogoVar | |||||||
SLC16A2_chrX_74416493_74538916 | 74506937 | AT | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(112): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(111): Show |
115 | 235 | 0.4894 | -1 | c.431 others(10): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC16A2_chrX_74416493_74538916 | 74507079 | TG | T | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 235 | 0.0043 | -1 | c.431 others(10): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC16A2_chrX_74416493_74538916 | 74507399 | AG | A | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 235 | 0.0043 | -1 | c.431 others(10): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC16A2_chrX_74416493_74538916 | 74507553 | CA | C | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 235 | 0.0043 | -1 | c.431 others(10): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC16A2_chrX_74416493_74538916 | 74507717 | TA | T | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 235 | 0.0043 | -1 | c.431 others(10): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC16A2_chrX_74416493_74538916 | 74508044 | AT | A | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 235 | 0.0043 | -1 | c.431 others(10): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC16A2_chrX_74416493_74538916 | 74508364 | AT | A | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 235 | 0.0043 | -1 | c.431 others(10): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC16A2_chrX_74416493_74538916 | 74508729 | TG | T | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 235 | 0.0043 | -1 | c.431 others(10): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC16A2_chrX_74416493_74538916 | 74508806 | AG | A | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 235 | 0.0043 | -1 | c.431 others(10): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC16A2_chrX_74416493_74538916 | 74508875 | CT | C | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 235 | 0.0043 | -1 | c.431 others(10): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC16A2_chrX_74416493_74538916 | 74509393 | TA | T | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 235 | 0.0043 | -1 | c.431 others(10): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC16A2_chrX_74416493_74538916 | 74509506 | AT | A | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 235 | 0.0043 | -1 | c.431 others(10): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC16A2_chrX_74416493_74538916 | 74509834 | TG | T | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 235 | 0.0043 | -1 | c.431 others(10): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC16A2_chrX_74416493_74538916 | 74509885 | TG | T | intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 235 | 0.0043 | -1 | c.431 others(10): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC16A2_chrX_74416493_74538916 | 74510383 | TA | T | intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0034 | 1 | 235 | 0.0043 | -1 | c.431 others(10): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC16A2_chrX_74416493_74538916 | 74510896 | TA | T | intron_variant | MODIFIER | HG01070.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 | 1 | 235 | 0.0043 | -1 | c.431 others(10): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC16A2_chrX_74416493_74538916 | 74519715 | CA | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01243.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0077 a0001c0001t0001g0078 others(2): Show |
5 | 235 | 0.0213 | -1 | c.431 others(9): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC16A2_chrX_74416493_74538916 | 74519730 | AC | A | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG01099.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0013a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0050 others(11): Show |
14 | 235 | 0.0596 | -1 | c.431 others(9): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 1/5 | chrX | TogoVar | |||||||
SLC16A2_chrX_74416493_74538916 | 74528080 | AG | A | intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 235 | 0.0043 | -1 | c.117 others(10): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC16A2_chrX_74416493_74538916 | 74528270 | TG | T | intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 | 1 | 235 | 0.0043 | -1 | c.117 others(9): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC16A2_chrX_74416493_74538916 | 74530090 | CT | C | intron_variant | MODIFIER | HG00323.hp2 HG01070.hp2 HG01169.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(2): Show | a0001c0001t0001g0082 a0001c0001t0001g0147 a0001c0001t0001g0156 others(22): Show |
25 | 235 | 0.1064 | -1 | c.139 others(9): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC16A2_chrX_74416493_74538916 | 74532743 | TG | T | 3_prime_UTR_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0221 | 1 | 235 | 0.0043 | -1 | c.*11 others(6): Show |
SLC16A2 | ENSG00000147100.11 | transcript | ENST00000587091.6 | protein_coding | 6/6 | 1193 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
SLC16A3_chr17_82224042_82245086 | 82224480 | TG | T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00733.hp2 HG01106.hp1 others(18): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0002a0001c0001t0004a0003c0004t0016 | a0001c0001t0002g0026 a0001c0001t0002g0053 a0001c0001t0002g0256 others(16): Show |
21 | 410 | 0.0512 | -1 | c.-46 others(6): Show |
SLC16A3 | ENSG00000141526.18 | transcript | ENST00000582743.6 | protein_coding | 4561 | chr17 | TogoVar | |||||||
SLC16A3_chr17_82224042_82245086 | 82224625 | TG | T | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02647.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0274 a0001c0001t0002g0275 a0001c0003t0002g0049 |
4 | 410 | 0.0098 | -1 | c.-45 others(6): Show |
SLC16A3 | ENSG00000141526.18 | transcript | ENST00000582743.6 | protein_coding | 4416 | chr17 | TogoVar | |||||||
SLC16A3_chr17_82224042_82245086 | 82231400 | CG | C | intron_variant | MODIFIER | HG01074.hp2 HG02970.hp2 HG03209.hp2 others(1): Show |
a0001a0005 | a0001c0001a0001c0008a0005c0012 | a0001c0001t0001a0001c0001t0017a0001c0008t0005others(1): Show | a0001c0001t0001g0221 a0001c0001t0017g0219 a0001c0008t0005g0220 others(1): Show |
4 | 410 | 0.0098 | -1 | c.-27 others(9): Show |
SLC16A3 | ENSG00000141526.18 | transcript | ENST00000582743.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC16A3_chr17_82224042_82245086 | 82233848 | AT | A | intron_variant | MODIFIER | HG00639.hp1 HG02559.hp2 HG02615.hp2 others(7): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0004a0003c0004t0016 | a0001c0001t0001g0084 a0001c0001t0001g0109 a0001c0001t0004g0050 others(6): Show |
10 | 410 | 0.0244 | -1 | c.-26 others(9): Show |
SLC16A3 | ENSG00000141526.18 | transcript | ENST00000582743.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC16A3_chr17_82224042_82245086 | 82235236 | CA | C | intron_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01993.hp1 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0008others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0002g0275 a0001c0001t0004g0050 a0001c0001t0004g0254 others(31): Show |
40 | 410 | 0.0976 | -1 | c.-26 others(8): Show |
SLC16A3 | ENSG00000141526.18 | transcript | ENST00000582743.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SLC16A3_chr17_82224042_82245086 | 82241661 | GC | G | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01884.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010 | a0001c0001t0001g0191 a0001c0001t0002g0045 a0001c0001t0002g0242 others(2): Show |
6 | 410 | 0.0146 | -1 | c.*26 others(6): Show |
SLC16A3 | ENSG00000141526.18 | transcript | ENST00000582743.6 | protein_coding | 1576 | chr17 | TogoVar | |||||||
SLC16A3_chr17_82224042_82245086 | 82242212 | TG | T | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01255.hp2 others(28): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0123 a0001c0001t0001g0185 a0001c0001t0001g0224 others(24): Show |
31 | 410 | 0.0756 | -1 | c.*32 others(6): Show |
SLC16A3 | ENSG00000141526.18 | transcript | ENST00000582743.6 | protein_coding | 2127 | chr17 | TogoVar | |||||||
SLC16A3_chr17_82224042_82245086 | 82244324 | AG | A | downstream_gene_variant | MODIFIER | HG00438.hp2 HG03704.hp2 NA18969.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0032 a0001c0001t0001g0118 |
3 | 410 | 0.0073 | -1 | c.*53 others(6): Show |
SLC16A3 | ENSG00000141526.18 | transcript | ENST00000582743.6 | protein_coding | 4239 | chr17 | TogoVar | |||||||
SLC16A4_chr1_110357857_110396026 | 110358158 | TC | T | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02055.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(1): Show | a0001c0001t0001g0026 a0001c0001t0001g0051 a0001c0001t0001g0231 others(6): Show |
12 | 432 | 0.0278 | -1 | c.*56 others(6): Show |
SLC16A4 | ENSG00000168679.18 | transcript | ENST00000369779.9 | protein_coding | 4698 | chr1 | TogoVar | |||||||
SLC16A4_chr1_110357857_110396026 | 110361257 | CT | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00597.hp1 others(61): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0051 others(50): Show |
64 | 432 | 0.1482 | -1 | c.*25 others(6): Show |
SLC16A4 | ENSG00000168679.18 | transcript | ENST00000369779.9 | protein_coding | 1599 | chr1 | TogoVar | |||||||
SLC16A4_chr1_110357857_110396026 | 110361755 | GT | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(246): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0008a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0012 others(174): Show |
249 | 432 | 0.5764 | -1 | c.*20 others(6): Show |
SLC16A4 | ENSG00000168679.18 | transcript | ENST00000369779.9 | protein_coding | 1101 | chr1 | TogoVar | |||||||
SLC16A4_chr1_110357857_110396026 | 110361767 | AT | A | downstream_gene_variant | MODIFIER | HG01099.hp2 HG01891.hp2 HG02109.hp2 others(20): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0008a0003c0005t0001 | a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0040 others(14): Show |
23 | 432 | 0.0532 | -1 | c.*19 others(6): Show |
SLC16A4 | ENSG00000168679.18 | transcript | ENST00000369779.9 | protein_coding | 1089 | chr1 | TogoVar | |||||||
SLC16A4_chr1_110357857_110396026 | 110364499 | CT | C | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00597.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0009 a0001c0001t0001g0031 a0001c0001t0001g0055 others(31): Show |
39 | 432 | 0.0903 | -1 | c.133 others(9): Show |
SLC16A4 | ENSG00000168679.18 | transcript | ENST00000369779.9 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
SLC16A4_chr1_110357857_110396026 | 110368844 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(125): Show |
a0001a0002a0005 | a0001c0001a0001c0008a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0009 a0001c0001t0001g0031 a0001c0001t0001g0055 others(83): Show |
128 | 432 | 0.2963 | -1 | c.133 others(10): Show |
SLC16A4 | ENSG00000168679.18 | transcript | ENST00000369779.9 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
SLC16A4_chr1_110357857_110396026 | 110370582 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG01071.hp2 others(40): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0017others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0026 others(24): Show |
43 | 432 | 0.0995 | -1 | c.133 others(10): Show |
SLC16A4 | ENSG00000168679.18 | transcript | ENST00000369779.9 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
SLC16A4_chr1_110357857_110396026 | 110379078 | TC | T | frameshift_variant | HIGH | NA19072.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0236 | 1 | 432 | 0.0023 | -1 | c.804 others(4): Show |
p.Asn others(5): Show |
SLC16A4 | ENSG00000168679.18 | transcript | ENST00000369779.9 | protein_coding | 6/9 | 998/2567 | 804/1464 | 268/487 | chr1 | TogoVar | |||
SLC16A4_chr1_110357857_110396026 | 110380637 | CG | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(254): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0008a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0012 others(182): Show |
257 | 432 | 0.5949 | -1 | c.526 others(8): Show |
SLC16A4 | ENSG00000168679.18 | transcript | ENST00000369779.9 | protein_coding | 5/8 | chr1 | TogoVar | |||||||
SLC16A4_chr1_110357857_110396026 | 110381127 | GA | G | frameshift_variant | HIGH | NA19072.hp1 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0236 | 1 | 432 | 0.0023 | -1 | c.380 others(4): Show |
p.Phe others(5): Show |
SLC16A4 | ENSG00000168679.18 | transcript | ENST00000369779.9 | protein_coding | 5/9 | 574/2567 | 380/1464 | 127/487 | chr1 | TogoVar | |||
SLC16A4_chr1_110357857_110396026 | 110383768 | GT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(241): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0008a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0001g0003 a0001c0001t0001g0009 a0001c0001t0001g0012 others(171): Show |
244 | 432 | 0.5648 | -1 | c.88- others(7): Show |
SLC16A4 | ENSG00000168679.18 | transcript | ENST00000369779.9 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
SLC16A4_chr1_110357857_110396026 | 110383805 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(137): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0018 others(77): Show |
140 | 432 | 0.3241 | -1 | c.88- others(7): Show |
SLC16A4 | ENSG00000168679.18 | transcript | ENST00000369779.9 | protein_coding | 2/8 | chr1 | TogoVar | |||||||
SLC16A4_chr1_110357857_110396026 | 110392017 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00673.hp1 others(80): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0042 a0001c0001t0001g0214 a0001c0002t0001g0149 others(42): Show |
83 | 432 | 0.1921 | -1 | c.-11 others(6): Show |
SLC16A4 | ENSG00000168679.18 | transcript | ENST00000369779.9 | protein_coding | 992 | chr1 | TogoVar | |||||||
SLC16A4_chr1_110357857_110396026 | 110393550 | AT | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00639.hp1 HG00642.hp1 others(51): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0026 others(33): Show |
54 | 432 | 0.1250 | -1 | c.-27 others(6): Show |
SLC16A4 | ENSG00000168679.18 | transcript | ENST00000369779.9 | protein_coding | 2525 | chr1 | TogoVar | |||||||
SLC16A5_chr17_75082954_75111162 | 75083462 | TA | T | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01109.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0007 | a0001c0001t0001g0006 a0001c0001t0001g0009 a0001c0001t0001g0023 others(9): Show |
27 | 418 | 0.0646 | -1 | c.-47 others(6): Show |
SLC16A5 | ENSG00000170190.16 | transcript | ENST00000329783.9 | protein_coding | 4491 | chr17 | TogoVar | |||||||
SLC16A5_chr17_75082954_75111162 | 75084931 | AG | A | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG02258.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0040 others(3): Show |
16 | 418 | 0.0383 | -1 | c.-33 others(6): Show |
SLC16A5 | ENSG00000170190.16 | transcript | ENST00000329783.9 | protein_coding | 3022 | chr17 | TogoVar |