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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GPR173_chrX_53043789_53085615 | 53074501 | A | AATATATA others(277): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0014 | 1 | 208 | 0.0048 | 284 | c.-97 others(301): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GSE1_chr16_85608322_85681200 | 85653187 | G | GCCCCCCT others(277): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 | 1 | 290 | 0.0035 | 284 | c.427 others(301): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
HERC6_chr4_88373852_88448097 | 88379742 | A | ATATATAA others(277): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0084 | 1 | 174 | 0.0058 | 284 | c.199 others(299): Show |
HERC6 | ENSG00000138642.16 | transcript | ENST00000264346.12 | protein_coding | 1/22 | chr4 | TogoVar | |||||||
HES4_chr1_993964_1005097 | 996728 | A | AGGACCCC others(277): Show |
downstream_gene_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 396 | 0.0025 | 284 | c.*23 others(295): Show |
HES4 | ENSG00000188290.11 | transcript | ENST00000304952.11 | protein_coding | 2235 | chr1 | TogoVar | |||||||
IDE_chr10_92446684_92579093 | 92524325 | T | TATTATAT others(277): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0297 | 1 | 314 | 0.0032 | 284 | c.661 others(301): Show |
IDE | ENSG00000119912.18 | transcript | ENST00000265986.11 | protein_coding | 4/24 | chr10 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322870 | T | TGGAATAT others(277): Show |
upstream_gene_variant | MODIFIER | NA19068.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0029 | 1 | 323 | 0.0031 | 284 | c.-21 others(295): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2099 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TACGGAAT others(277): Show |
upstream_gene_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 323 | 0.0031 | 284 | c.-21 others(295): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TGGAATAC others(277): Show |
upstream_gene_variant | MODIFIER | NA18945.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 | 1 | 323 | 0.0031 | 284 | c.-21 others(295): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
INO80_chr15_40973880_41121280 | 41031591 | G | GAGGAAGG others(277): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0276 | 1 | 282 | 0.0036 | 284 | c.290 others(303): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | |||||||
INO80_chr15_40973880_41121280 | 41031591 | G | GAGGAAGG others(277): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0282 | 1 | 282 | 0.0036 | 284 | c.290 others(303): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | |||||||
INO80_chr15_40973880_41121280 | 41031591 | G | GAGGAAGG others(277): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02615.hp2 HG02886.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0004a0001c0002t0009 | a0001c0001t0004g0077 a0001c0001t0004g0081 a0001c0001t0004g0085 others(4): Show |
7 | 282 | 0.0248 | 284 | c.290 others(303): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | |||||||
IQCJ_chr3_159064319_159268747 | 159229783 | C | CCCCCTCC others(277): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 252 | 0.0040 | 284 | c.10- others(301): Show |
IQCJ | ENSG00000214216.11 | transcript | ENST00000397832.7 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 103862 | C | CGGGGCTC others(277): Show |
intron_variant | MODIFIER | HG02717.hp1 HG02976.hp2 HG03579.hp1 |
a0001a0002a0003 | a0001c0002a0002c0001a0003c0005 | a0001c0002t0002a0002c0001t0005a0003c0005t0009 | a0001c0002t0002g0008 a0002c0001t0005g0007 a0003c0005t0009g0009 |
3 | 282 | 0.0106 | 284 | c.623 others(301): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
IRAK2_chr3_10159919_10248745 | 10224728 | C | CCATCCAT others(277): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01261.hp1 HG01515.hp1 others(1): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0119 a0003c0004t0001g0120 a0003c0004t0001g0121 others(1): Show |
4 | 292 | 0.0137 | 284 | c.121 others(303): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IRAK2_chr3_10159919_10248745 | 10224728 | C | CCATCCAT others(277): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0002 | a0002c0006 | a0002c0006t0001 | a0002c0006t0001g0117 | 1 | 292 | 0.0034 | 284 | c.121 others(303): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IRAK2_chr3_10159919_10248745 | 10224732 | C | CCATCCAT others(277): Show |
intron_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0169 | 1 | 292 | 0.0034 | 284 | c.121 others(303): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
IRAK2_chr3_10159919_10248745 | 10224736 | C | CCATCCAC others(277): Show |
intron_variant | MODIFIER | HG02074.hp1 HG02083.hp1 NA18984.hp2 others(1): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0001a0005c0007t0001 | a0002c0002t0001g0235 a0002c0002t0001g0243 a0005c0007t0001g0128 others(1): Show |
4 | 292 | 0.0137 | 284 | c.121 others(303): Show |
IRAK2 | ENSG00000134070.5 | transcript | ENST00000256458.5 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
JAG1_chr20_10632684_10678999 | 10648780 | C | CTAGCTGG others(277): Show |
intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0067 | 1 | 412 | 0.0024 | 284 | c.139 others(299): Show |
JAG1 | ENSG00000101384.12 | transcript | ENST00000254958.10 | protein_coding | 11/25 | chr20 | TogoVar | |||||||
KANK1_chr9_499695_751103 | 514123 | T | TCTCTCTC others(277): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0016 | a0016c0032 | a0016c0032t0002 | a0016c0032t0002g0089 | 1 | 254 | 0.0039 | 284 | c.-84 others(301): Show |
KANK1 | ENSG00000107104.21 | transcript | ENST00000382297.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
KCNH6_chr17_63518358_63551727 | 63547442 | G | GAAAAGGA others(277): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0006 | a0006c0011 | a0006c0011t0004 | a0006c0011t0004g0125 | 1 | 324 | 0.0031 | 284 | c.*15 others(295): Show |
KCNH6 | ENSG00000173826.15 | transcript | ENST00000314672.10 | protein_coding | 716 | chr17 | TogoVar | |||||||
KCNH6_chr17_63518358_63551727 | 63547442 | G | GAAAAGGA others(277): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(319): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0002a0001c0004others(45): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(218): Show |
322 | 324 | 0.9938 | 284 | c.*15 others(295): Show |
KCNH6 | ENSG00000173826.15 | transcript | ENST00000314672.10 | protein_coding | 716 | chr17 | TogoVar | |||||||
KCNMB2_chr3_178531436_178849429 | 178757984 | G | GATATATA others(277): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025 | 1 | 232 | 0.0043 | 284 | c.-67 others(303): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
KCNMB2_chr3_178531436_178849429 | 178758041 | T | TATATATC others(277): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0027 | 1 | 232 | 0.0043 | 284 | c.-67 others(303): Show |
KCNMB2 | ENSG00000197584.13 | transcript | ENST00000452583.6 | protein_coding | 1/4 | chr3 | TogoVar | |||||||
KCNT2_chr1_196220779_196613440 | 196437093 | T | TTATATAC others(277): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01081.hp2 |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0132 a0001c0004t0004g0133 |
2 | 136 | 0.0147 | 284 | c.639 others(301): Show |
KCNT2 | ENSG00000162687.19 | transcript | ENST00000294725.14 | protein_coding | 8/27 | chr1 | TogoVar | |||||||
KIF26B_chr1_245149985_245714432 | 245600120 | C | CCTCAGCT others(277): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0008 | a0008c0024 | a0008c0024t0080 | a0008c0024t0080g0010 | 1 | 160 | 0.0063 | 284 | c.135 others(303): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245600120 | C | CCTCAGCT others(277): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0056 | 1 | 160 | 0.0063 | 284 | c.135 others(303): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245600127 | T | TTCCCGGA others(277): Show |
intron_variant | MODIFIER | HG03540.hp2 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0038a0002c0003t0022 | a0001c0001t0038g0107 a0002c0003t0022g0155 |
2 | 160 | 0.0125 | 284 | c.135 others(303): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF26B_chr1_245149985_245714432 | 245600127 | T | TTCCCGGG others(277): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01884.hp2 NA18906.hp2 others(1): Show |
a0001a0002a0012others(1): Show | a0001c0001a0002c0003a0012c0036others(1): Show | a0001c0001t0037a0002c0003t0083a0012c0036t0011others(1): Show | a0001c0001t0037g0119 a0002c0003t0083g0085 a0012c0036t0011g0135 others(1): Show |
4 | 160 | 0.0250 | 284 | c.135 others(303): Show |
KIF26B | ENSG00000162849.16 | transcript | ENST00000407071.7 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KLHL23_chr2_169728832_169756878 | 169750102 | A | ATATACGT others(277): Show |
3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01169.hp2 HG02155.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0066a0001c0001t0080 | a0001c0001t0028g0003 a0001c0001t0028g0273 a0001c0001t0066g0129 others(1): Show |
5 | 400 | 0.0125 | 284 | c.*37 others(293): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 4/4 | 371 | chr2 | TogoVar | ||||||
KLHL23_chr2_169728832_169756878 | 169750102 | A | ATATACGT others(277): Show |
3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00597.hp2 others(70): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0019a0001c0001t0027others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(58): Show |
73 | 400 | 0.1825 | 284 | c.*37 others(293): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 4/4 | 371 | chr2 | TogoVar | ||||||
KLHL23_chr2_169728832_169756878 | 169750102 | A | ATATACGT others(277): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG02027.hp1 HG02074.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0091 | a0001c0001t0012g0002 a0001c0001t0012g0030 a0001c0001t0012g0124 others(5): Show |
8 | 400 | 0.0200 | 284 | c.*37 others(293): Show |
KLHL23 | ENSG00000213160.10 | transcript | ENST00000392647.7 | protein_coding | 4/4 | 371 | chr2 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124471567 | T | TTTATATA others(277): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01346.hp2 HG02015.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0013 | a0001c0001t0001g0017 a0001c0001t0001g0075 a0001c0001t0001g0179 others(5): Show |
8 | 260 | 0.0308 | 284 | c.125 others(301): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 1/6 | chr10 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 857613 | G | GCAGTGGT others(277): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0052 | 1 | 294 | 0.0034 | 284 | c.153 others(303): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 857623 | A | ACGGGACG others(277): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0005 | a0001c0005t0012 | a0001c0005t0012g0110 | 1 | 294 | 0.0034 | 284 | c.153 others(303): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 955126 | A | AAACCAGA others(277): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00597.hp2 others(19): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0005a0001c0021others(6): Show | a0001c0001t0001a0001c0001t0019a0001c0005t0001others(8): Show | a0001c0001t0001g0247 a0001c0001t0001g0249 a0001c0001t0001g0251 others(19): Show |
22 | 294 | 0.0748 | 284 | c.194 others(299): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 955126 | A | AAACCAGA others(277): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0244 | 1 | 294 | 0.0034 | 284 | c.194 others(299): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 955126 | A | AAACCAGA others(277): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0250 | 1 | 294 | 0.0034 | 284 | c.194 others(299): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 955126 | A | AAACCAGA others(277): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 HG02572.hp2 others(4): Show |
a0001a0004a0006others(2): Show | a0001c0001a0001c0003a0001c0064others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0064t0002others(4): Show | a0001c0001t0001g0024 a0001c0003t0001g0124 a0001c0064t0002g0128 others(4): Show |
7 | 294 | 0.0238 | 284 | c.194 others(299): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 955150 | C | CGTGCCTG others(277): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0004 | a0001c0004t0016 | a0001c0004t0016g0025 | 1 | 294 | 0.0034 | 284 | c.194 others(299): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 955150 | C | CGTGCCTG others(277): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG01099.hp2 others(69): Show |
a0001a0002a0004others(5): Show | a0001c0002a0001c0004a0001c0005others(15): Show | a0001c0002t0001a0001c0002t0006a0001c0004t0001others(20): Show | a0001c0002t0001g0021 a0001c0002t0001g0026 a0001c0002t0001g0027 others(69): Show |
72 | 294 | 0.2449 | 284 | c.194 others(299): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 955150 | C | CGTGCCTG others(277): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0022 | a0022c0041 | a0022c0041t0004 | a0022c0041t0004g0270 | 1 | 294 | 0.0034 | 284 | c.194 others(299): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 955151 | G | GTGCCTGC others(277): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01884.hp1 others(6): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0002a0001c0002t0011a0001c0006t0001others(1): Show | a0001c0002t0002g0289 a0001c0002t0002g0291 a0001c0002t0011g0292 others(6): Show |
9 | 294 | 0.0306 | 284 | c.194 others(299): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 955151 | G | GTGCCTGC others(277): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0012 | a0012c0049 | a0012c0049t0010 | a0012c0049t0010g0281 | 1 | 294 | 0.0034 | 284 | c.194 others(299): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
LMF2_chr22_50497949_50512702 | 50504238 | C | CCCCCGGT others(277): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0011 | a0011c0037 | a0011c0037t0001 | a0011c0037t0001g0119 | 1 | 414 | 0.0024 | 284 | c.171 others(301): Show |
LMF2 | ENSG00000100258.18 | transcript | ENST00000474879.7 | protein_coding | 12/13 | chr22 | TogoVar | |||||||
MAN2B2_chr4_6570189_6628362 | 6579111 | T | TCACCACC others(277): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 362 | 0.0028 | 284 | c.391 others(299): Show |
MAN2B2 | ENSG00000013288.9 | transcript | ENST00000285599.8 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
MBTPS1_chr16_84048763_84121942 | 84051332 | C | CCCGCATG others(277): Show |
downstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 424 | 0.0024 | 284 | c.*31 others(295): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 2430 | chr16 | TogoVar | |||||||
MBTPS1_chr16_84048763_84121942 | 84051532 | C | CCGCATGT others(277): Show |
downstream_gene_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0275 | 1 | 424 | 0.0024 | 284 | c.*29 others(295): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 2230 | chr16 | TogoVar | |||||||
MBTPS1_chr16_84048763_84121942 | 84051532 | C | CCGCATGT others(277): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp1 HG00558.hp1 others(73): Show |
a0001a0011 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0016others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(70): Show |
76 | 424 | 0.1793 | 284 | c.*29 others(295): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 2230 | chr16 | TogoVar | |||||||
MBTPS1_chr16_84048763_84121942 | 84051816 | C | CCGCATGT others(277): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 HG03130.hp1 NA18973.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0032a0001c0002t0001 | a0001c0001t0010g0251 a0001c0001t0032g0233 a0001c0002t0001g0204 others(1): Show |
4 | 424 | 0.0094 | 284 | c.*26 others(295): Show |
MBTPS1 | ENSG00000140943.18 | transcript | ENST00000343411.8 | protein_coding | 1946 | chr16 | TogoVar | |||||||
MCC_chr5_113017106_113493453 | 113333794 | T | TATATATG others(277): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0050 | a0001c0050t0005 | a0001c0050t0005g0106 | 1 | 160 | 0.0063 | 284 | c.627 others(301): Show |
MCC | ENSG00000171444.19 | transcript | ENST00000408903.7 | protein_coding | 3/18 | chr5 | TogoVar |