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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GAP43_chr3_115618510_115726483 | 115698074 | A | ATTATATA others(299): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0155 | 1 | 326 | 0.0031 | 306 | c.628 others(325): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
GAP43_chr3_115618510_115726483 | 115698074 | A | ATTATATA others(299): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0219 | 1 | 326 | 0.0031 | 306 | c.628 others(325): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
GDF2_chr10_47317454_47332588 | 47319409 | T | TAAATTTT others(299): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0001 |
2 | 231 | 0.0087 | 306 | c.-32 others(317): Show |
GDF2 | ENSG00000263761.3 | transcript | ENST00000581492.3 | protein_coding | 3044 | chr10 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4344478 | C | CTGTGAGA others(299): Show |
downstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0190 | 1 | 355 | 0.0028 | 306 | c.*69 others(317): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4884 | chr16 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4344478 | C | CTGTGAGA others(299): Show |
downstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0188 | 1 | 355 | 0.0028 | 306 | c.*69 others(317): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4884 | chr16 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4344478 | C | CTGTGAGA others(299): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 HG02976.hp2 HG03486.hp2 |
a0001a0009 | a0001c0002a0009c0013 | a0001c0002t0001a0001c0002t0007a0009c0013t0007 | a0001c0002t0001g0167 a0001c0002t0007g0273 a0009c0013t0007g0122 |
3 | 357 | 0.0084 | 306 | c.*69 others(317): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4884 | chr16 | TogoVar | |||||||
GLIS2_chr16_4311067_4344595 | 4344478 | C | CTGTGAGA others(299): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG01123.hp1 HG01515.hp2 others(25): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(3): Show | a0001c0001t0001g0184 a0001c0002t0001g0006 a0001c0002t0001g0015 others(20): Show |
28 | 382 | 0.0733 | 306 | c.*69 others(317): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4884 | chr16 | TogoVar | |||||||
GLIS3_chr9_3819127_4305068 | 3876693 | G | GGGAGGAA others(299): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0015 | a0002c0015t0005 | a0002c0015t0005g0166 | 1 | 14 | 0.0714 | 306 | c.229 others(325): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 8/10 | chr9 | TogoVar | |||||||
GPC5_chr13_91393621_92872237 | 92538793 | C | CATTCTTT others(299): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01891.hp1 HG02258.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0027 a0001c0001t0001g0029 a0001c0001t0002g0003 others(3): Show |
6 | 22 | 0.2727 | 306 | c.156 others(329): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GPR173_chrX_53043789_53085615 | 53074114 | T | TTATATAT others(299): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0005 a0001c0001t0016g0006 |
2 | 71 | 0.0282 | 306 | c.-97 others(323): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 322045 | A | AAAAAAAA others(299): Show |
upstream_gene_variant | MODIFIER | NA18906.hp1 | a0011 | a0011c0027 | a0011c0027t0005 | a0011c0027t0005g0101 | 1 | 151 | 0.0066 | 306 | c.-32 others(317): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 3250 | chrX | TogoVar | |||||||
HAAO_chr2_42762089_42797583 | 42796927 | G | GCATTTTT others(299): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(31): Show |
a0001a0002a0004 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0026 a0001c0001t0001g0028 others(27): Show |
34 | 129 | 0.2636 | 306 | c.-43 others(317): Show |
HAAO | ENSG00000162882.15 | transcript | ENST00000294973.11 | protein_coding | 4345 | chr2 | TogoVar | |||||||
HACL1_chr3_15555699_15606569 | 15590060 | T | TAAAAAAT others(299): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 391 | 0.0026 | 306 | c.309 others(321): Show |
HACL1 | ENSG00000131373.15 | transcript | ENST00000321169.10 | protein_coding | 4/16 | chr3 | TogoVar | |||||||
HACL1_chr3_15555699_15606569 | 15597657 | T | TGGATCAT others(299): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0167 | 1 | 323 | 0.0031 | 306 | c.187 others(323): Show |
HACL1 | ENSG00000131373.15 | transcript | ENST00000321169.10 | protein_coding | 2/16 | chr3 | TogoVar | |||||||
HELZ2_chr20_63553086_63579239 | 63571500 | T | CGGTGGGC others(299): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0031 | a0031c0039 | a0031c0039t0094 | a0031c0039t0094g0078 | 1 | 385 | 0.0026 | 306 | c.278 others(321): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
HERC4_chr10_67916905_68080283 | 67961926 | A | AGATGAAA others(299): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0334 | 1 | 358 | 0.0028 | 306 | c.192 others(325): Show |
HERC4 | ENSG00000148634.16 | transcript | ENST00000373700.9 | protein_coding | 16/24 | chr10 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TGGAATAT others(299): Show |
upstream_gene_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0004 | a0002c0004t0014 | a0002c0004t0014g0211 | 1 | 62 | 0.0161 | 306 | c.-21 others(317): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
ILF3_chr19_10649346_10697400 | 10672357 | T | TTTTTTTT others(299): Show |
intron_variant | MODIFIER | HG03195.hp1 NA19030.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0007 | a0001c0001t0001g0169 a0002c0003t0007g0088 |
2 | 316 | 0.0063 | 306 | c.411 others(321): Show |
ILF3 | ENSG00000129351.18 | transcript | ENST00000588657.6 | protein_coding | 4/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
IQCJ_chr3_159064319_159268747 | 159179532 | C | CAAAAGTG others(299): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02965.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0223 a0001c0001t0001g0224 |
3 | 250 | 0.0120 | 306 | c.10- others(323): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IQGAP2_chr5_76398285_76713132 | 76578872 | T | TAAGAGTG others(299): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0136 | 1 | 176 | 0.0057 | 306 | c.458 others(323): Show |
IQGAP2 | ENSG00000145703.17 | transcript | ENST00000274364.11 | protein_coding | 5/35 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
KALRN_chr3_124028369_124731325 | 124367236 | G | GCTGACCC others(299): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0035 | a0001c0035t0002 | a0001c0035t0002g0065 | 1 | 114 | 0.0088 | 306 | c.177 others(327): Show |
KALRN | ENSG00000160145.16 | transcript | ENST00000682506.1 | protein_coding | 10/59 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNIP4_chr4_20723606_21953772 | 21532949 | T | TAAAAGCT others(299): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02630.hp1 NA19030.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0015a0001c0002t0001 | a0001c0001t0001g0066 a0001c0001t0015g0023 a0001c0002t0001g0065 |
3 | 70 | 0.0429 | 306 | c.61+ others(325): Show |
KCNIP4 | ENSG00000185774.17 | transcript | ENST00000382152.7 | protein_coding | 1/8 | chr4 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178758039 | T | TACACACA others(299): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0119 | 1 | 150 | 0.0067 | 306 | c.-67 others(325): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758165 | G | GATATATA others(299): Show |
intron_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0135 | 1 | 63 | 0.0159 | 306 | c.-67 others(325): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758165 | G | GATATATA others(299): Show |
intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0142 | 1 | 63 | 0.0159 | 306 | c.-67 others(325): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758709 | G | GATATATA others(299): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0087 | 1 | 117 | 0.0085 | 306 | c.-67 others(325): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758709 | G | GATATATA others(299): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0085 | 1 | 117 | 0.0085 | 306 | c.-67 others(325): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87738956 | C | CCACACAC others(299): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG02145.hp2 others(9): Show |
a0005a0015a0017others(3): Show | a0005c0005a0015c0027a0017c0024others(3): Show | a0005c0005t0001a0005c0005t0003a0015c0027t0003others(4): Show | a0005c0005t0001g0315 a0005c0005t0003g0299 a0005c0005t0003g0301 others(9): Show |
12 | 334 | 0.0359 | 306 | c.507 others(323): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(299): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 77 | 0.0130 | 306 | c.-27 others(317): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(299): Show |
upstream_gene_variant | MODIFIER | HG06807.hp1 | a0004 | a0004c0004 | a0004c0004t0013 | a0004c0004t0013g0032 | 1 | 77 | 0.0130 | 306 | c.-27 others(317): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(299): Show |
upstream_gene_variant | MODIFIER | HG02723.hp2 HG03041.hp1 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 a0001c0001t0002g0068 |
4 | 80 | 0.0500 | 306 | c.-27 others(317): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | |||||||
KRTAP5-7_chr11_71522267_71533669 | 71522480 | T | TGTTGCTG others(299): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0007 | a0007c0006 | a0007c0006t0002 | a0007c0006t0002g0000 | 1 | 458 | 0.0022 | 306 | c.-48 others(317): Show |
KRTAP5-7 | ENSG00000244411.4 | transcript | ENST00000398536.6 | protein_coding | 4786 | chr11 | TogoVar | |||||||
LGR6_chr1_202188799_202324761 | 202205230 | C | CACACACA others(299): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 a0001c0001t0001g0142 |
2 | 142 | 0.0141 | 306 | c.212 others(325): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471560 | A | ATATATTT others(299): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0116 | 1 | 216 | 0.0046 | 306 | c.125 others(323): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 857600 | A | ACGGGACG others(299): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0164 | 1 | 238 | 0.0042 | 306 | c.153 others(325): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 858471 | G | GACTGGTG others(299): Show |
intron_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0157 | 1 | 164 | 0.0061 | 306 | c.153 others(325): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 858471 | G | GACTGGTG others(299): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG02273.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0010t0001others(1): Show | a0001c0001t0001g0222 a0001c0003t0001g0237 a0001c0010t0001g0112 others(3): Show |
6 | 169 | 0.0355 | 306 | c.153 others(325): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 858471 | G | GACTGGTG others(299): Show |
intron_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0164 | 1 | 164 | 0.0061 | 306 | c.153 others(325): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LRGUK_chr7_134122340_134269595 | 134190878 | A | AAAGCAGT others(299): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02293.hp2 HG03239.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0003t0003 | a0001c0001t0001g0135 a0001c0001t0005g0105 a0001c0003t0003g0123 others(1): Show |
4 | 116 | 0.0345 | 306 | c.133 others(323): Show |
LRGUK | ENSG00000155530.4 | transcript | ENST00000285928.3 | protein_coding | 11/19 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LRMDA_chr10_75426624_76565168 | 75672589 | C | CCCTTCCC others(299): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 23 | 0.0435 | 306 | c.131 others(327): Show |
LRMDA | ENSG00000148655.16 | transcript | ENST00000611255.5 | protein_coding | 2/6 | chr10 | TogoVar | |||||||
MAP3K20_chr2_173070846_173273015 | 173260492 | T | TGAGGCTG others(299): Show |
intron_variant | MODIFIER | HG01346.hp2 HG03490.hp2 HG03492.hp1 others(3): Show |
a0001 | a0001c0007a0001c0012a0001c0021 | a0001c0007t0007a0001c0012t0007a0001c0021t0007 | a0001c0007t0007g0153 a0001c0012t0007g0002 a0001c0012t0007g0116 others(2): Show |
6 | 326 | 0.0184 | 306 | c.147 others(323): Show |
MAP3K20 | ENSG00000091436.17 | transcript | ENST00000375213.8 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MAP3K20_chr2_173070846_173273015 | 173260492 | T | TGAGGCTG others(299): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02165.hp2 HG02273.hp1 others(2): Show |
a0001 | a0001c0007 | a0001c0007t0007 | a0001c0007t0007g0087 a0001c0007t0007g0141 a0001c0007t0007g0143 others(2): Show |
5 | 325 | 0.0154 | 306 | c.147 others(323): Show |
MAP3K20 | ENSG00000091436.17 | transcript | ENST00000375213.8 | protein_coding | 17/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MAPKAP1_chr9_125432394_125712208 | 125458889 | C | CGGGGTGC others(299): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0103 a0001c0001t0010g0105 |
2 | 298 | 0.0067 | 306 | c.134 others(325): Show |
MAPKAP1 | ENSG00000119487.17 | transcript | ENST00000265960.8 | protein_coding | 10/11 | chr9 | TogoVar | |||||||
MARK1_chr1_220523136_220669461 | 220576004 | T | TCTCCCTC others(299): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0236 | 1 | 3 | 0.3333 | 306 | c.52- others(321): Show |
MARK1 | ENSG00000116141.17 | transcript | ENST00000366917.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MARK1_chr1_220523136_220669461 | 220576007 | C | CCCTCCCT others(299): Show |
intron_variant | MODIFIER | NA19030.hp2 NA19043.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0007 a0002c0002t0001g0008 |
2 | 296 | 0.0068 | 306 | c.52- others(321): Show |
MARK1 | ENSG00000116141.17 | transcript | ENST00000366917.6 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MBP_chr18_76973833_77137783 | 77044931 | G | GCCGGGCG others(299): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 309 | 0.0032 | 306 | c.139 others(325): Show |
MBP | ENSG00000197971.16 | transcript | ENST00000355994.7 | protein_coding | 3/8 | chr18 | TogoVar | |||||||
MCTP2_chr15_94226561_94488952 | 94276661 | T | TAAGAAAT others(299): Show |
intron_variant | MODIFIER | NA18983.hp1 NA18999.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0003a0001c0005t0009 | a0001c0002t0003g0139 a0001c0005t0009g0060 |
2 | 193 | 0.0104 | 306 | c.-65 others(325): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94276661 | T | TAAGAAAT others(299): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0058 | 1 | 192 | 0.0052 | 306 | c.-65 others(325): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94276661 | T | TAAGAAAT others(299): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00621.hp1 HG00735.hp2 others(63): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0006others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0046 a0001c0001t0001g0106 a0001c0001t0001g0115 others(63): Show |
66 | 257 | 0.2568 | 306 | c.-65 others(325): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94276661 | T | TAAGAAAT others(299): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0243 | 1 | 192 | 0.0052 | 306 | c.-65 others(325): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |