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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
UNC5D_chr8_35230475_35801540 | 35248360 | A | AGATATAT others(311): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 64 | 0.0156 | 318 | c.103 others(337): Show |
UNC5D | ENSG00000156687.11 | transcript | ENST00000404895.7 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
UNC79_chr14_93425939_93712876 | 93650935 | T | TAAAACCC others(311): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0043 | a0001c0043t0001 | a0001c0043t0001g0003 | 1 | 193 | 0.0052 | 318 | c.641 others(337): Show |
UNC79 | ENSG00000133958.14 | transcript | ENST00000695012.1 | protein_coding | 38/51 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
UNG_chr12_109092597_109115992 | 109106893 | A | ATATATGT others(311): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0296 a0001c0001t0002g0297 |
2 | 452 | 0.0044 | 318 | c.802 others(335): Show |
UNG | ENSG00000076248.12 | transcript | ENST00000242576.7 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
USH2A_chr1_215617891_216428448 | 216265176 | T | TAAAACAG others(311): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0042 | a0042c0020 | a0042c0020t0006 | a0042c0020t0006g0004 | 1 | 74 | 0.0135 | 318 | c.197 others(339): Show |
USH2A | ENSG00000042781.14 | transcript | ENST00000307340.8 | protein_coding | 11/71 | chr1 | TogoVar | |||||||
UTS2B_chr3_191262168_191335526 | 191281661 | T | TTGTACTC others(311): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01192.hp1 HG01358.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0033a0001c0001t0040 | a0001c0001t0028g0064 a0001c0001t0033g0066 a0001c0001t0033g0190 others(1): Show |
4 | 402 | 0.0100 | 318 | c.103 others(333): Show |
UTS2B | ENSG00000188958.10 | transcript | ENST00000340524.10 | protein_coding | 5/8 | chr3 | TogoVar | |||||||
VASH2_chr1_212945541_212996585 | 212963563 | C | CAAGAGTA others(311): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 378 | 0.0027 | 318 | c.366 others(335): Show |
VASH2 | ENSG00000143494.16 | transcript | ENST00000517399.3 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VCX3B_chrX_8459830_8471510 | 8466638 | A | AGGGAGGG others(311): Show |
downstream_gene_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 271 | 0.0037 | 318 | c.*25 others(327): Show |
VCX3B | ENSG00000205642.11 | transcript | ENST00000381032.6 | protein_coding | 129 | chrX | TogoVar | |||||||
VPS26A_chr10_69119178_69179412 | 69121313 | A | AAAAAGTG others(311): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0028 | 1 | 336 | 0.0030 | 318 | c.-29 others(329): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 2864 | chr10 | TogoVar | |||||||
VPS26A_chr10_69119178_69179412 | 69121313 | A | AAAAAGTG others(311): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0027 | a0001c0002t0008g0022 a0001c0002t0008g0023 a0001c0002t0008g0024 others(4): Show |
7 | 336 | 0.0208 | 318 | c.-29 others(329): Show |
VPS26A | ENSG00000122958.15 | transcript | ENST00000263559.11 | protein_coding | 2864 | chr10 | TogoVar | |||||||
WDHD1_chr14_54933949_55032099 | 55022704 | C | CAAAAAAC others(311): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0109 | 1 | 286 | 0.0035 | 318 | c.77+ others(333): Show |
WDHD1 | ENSG00000198554.12 | transcript | ENST00000360586.8 | protein_coding | 2/25 | chr14 | TogoVar | |||||||
WDR70_chr5_37374318_37758435 | 37648555 | T | TAGAAGTC others(311): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 242 | 0.0041 | 318 | c.109 others(339): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
WDR87_chr19_37879823_37911594 | 37881138 | T | TATATAAT others(311): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 | a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0030 | 1 | 330 | 0.0030 | 318 | c.*37 others(329): Show |
WDR87 | ENSG00000171804.11 | transcript | ENST00000447313.7 | protein_coding | 3684 | chr19 | TogoVar | |||||||
WFDC1_chr16_84289878_84334844 | 84316626 | A | AAAAAAGT others(311): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0438 | 1 | 472 | 0.0021 | 318 | c.338 others(335): Show |
WFDC1 | ENSG00000103175.11 | transcript | ENST00000219454.10 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
XDH_chr2_31329321_31419742 | 31336814 | T | TAAAAAGA others(311): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02818.hp2 HG03209.hp2 others(1): Show |
a0001a0015 | a0001c0015a0015c0035 | a0001c0015t0007a0015c0035t0007 | a0001c0015t0007g0202 a0001c0015t0007g0203 a0001c0015t0007g0204 others(1): Show |
4 | 370 | 0.0108 | 318 | c.395 others(335): Show |
XDH | ENSG00000158125.10 | transcript | ENST00000379416.4 | protein_coding | 35/35 | chr2 | TogoVar | |||||||
XDH_chr2_31329321_31419742 | 31336814 | T | TAAAAAGA others(311): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG01168.hp2 others(25): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(6): Show | a0001c0001t0003g0248 a0001c0001t0004g0055 a0001c0001t0004g0066 others(25): Show |
28 | 370 | 0.0757 | 318 | c.395 others(335): Show |
XDH | ENSG00000158125.10 | transcript | ENST00000379416.4 | protein_coding | 35/35 | chr2 | TogoVar | |||||||
ZBTB7C_chr18_48021672_48414383 | 48311557 | G | GGACAGGA others(311): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG03017.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0009 | a0001c0001t0009a0001c0001t0010a0001c0001t0030others(3): Show | a0001c0001t0009g0021 a0001c0001t0009g0081 a0001c0001t0010g0102 others(4): Show |
7 | 174 | 0.0402 | 318 | c.-79 others(337): Show |
ZBTB7C | ENSG00000184828.10 | transcript | ENST00000590800.6 | protein_coding | 2/4 | chr18 | TogoVar | |||||||
ZC3H12B_chrX_65029826_65512887 | 65450493 | G | GTACATAT others(311): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0130 | 1 | 165 | 0.0061 | 318 | c.-15 others(339): Show |
ZC3H12B | ENSG00000102053.13 | transcript | ENST00000338957.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
ZC3H3_chr8_143432659_143546447 | 143498712 | T | TACAGGGT others(311): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0021 | a0021c0019 | a0021c0019t0001 | a0021c0019t0001g0165 | 1 | 352 | 0.0028 | 318 | c.171 others(337): Show |
ZC3H3 | ENSG00000014164.7 | transcript | ENST00000262577.6 | protein_coding | 4/11 | chr8 | TogoVar | |||||||
ZC3H3_chr8_143432659_143546447 | 143498865 | G | GAGGGGTA others(311): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03130.hp1 |
a0015 | a0015c0026 | a0015c0026t0001 | a0015c0026t0001g0175 a0015c0026t0001g0176 |
2 | 352 | 0.0057 | 318 | c.171 others(337): Show |
ZC3H3 | ENSG00000014164.7 | transcript | ENST00000262577.6 | protein_coding | 4/11 | chr8 | TogoVar | |||||||
ZDHHC16_chr10_97441175_97462370 | 97457425 | C | CAAGACCT others(311): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0060 |
2 | 422 | 0.0047 | 318 | c.*53 others(327): Show |
ZDHHC16 | ENSG00000171307.19 | transcript | ENST00000393760.6 | protein_coding | 56 | chr10 | TogoVar | |||||||
ZFYVE19_chr15_40802089_40820084 | 40808120 | G | GCAAAGCT others(311): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01169.hp1 HG01496.hp2 others(17): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0005 | a0002c0002t0003g0007 a0002c0002t0003g0035 a0002c0002t0005g0015 others(1): Show |
20 | 382 | 0.0524 | 318 | c.279 others(333): Show |
ZFYVE19 | ENSG00000166140.17 | transcript | ENST00000355341.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ZFYVE19_chr15_40802089_40820084 | 40808120 | G | GCAAAGCT others(311): Show |
intron_variant | MODIFIER | HG03225.hp2 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0029 | 2 | 382 | 0.0052 | 318 | c.279 others(333): Show |
ZFYVE19 | ENSG00000166140.17 | transcript | ENST00000355341.8 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ZNF18_chr17_11972439_12002475 | 11988784 | T | TATACAGC others(311): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02970.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0067 a0002c0002t0002g0148 |
2 | 396 | 0.0051 | 318 | c.666 others(335): Show |
ZNF18 | ENSG00000154957.14 | transcript | ENST00000580306.7 | protein_coding | 4/6 | chr17 | TogoVar | |||||||
ZNF207_chr17_32345157_32386885 | 32357181 | T | TAAAAAAA others(311): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0265 | 1 | 296 | 0.0034 | 318 | c.169 others(335): Show |
ZNF207 | ENSG00000010244.19 | transcript | ENST00000394670.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ZNF236_chr18_76817557_76977901 | 76847096 | A | ACATCATT others(311): Show |
intron_variant | MODIFIER | HG00741.hp2 NA18945.hp2 |
a0003 | a0003c0008 | a0003c0008t0008a0003c0008t0021 | a0003c0008t0008g0318 a0003c0008t0021g0316 |
2 | 346 | 0.0058 | 318 | c.56- others(333): Show |
ZNF236 | ENSG00000130856.18 | transcript | ENST00000320610.14 | protein_coding | 1/30 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ZNF236_chr18_76817557_76977901 | 76851093 | C | CGGCCGGG others(311): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0100 | 1 | 346 | 0.0029 | 318 | c.199 others(333): Show |
ZNF236 | ENSG00000130856.18 | transcript | ENST00000320610.14 | protein_coding | 2/30 | chr18 | TogoVar | |||||||
ZNF28_chr19_52792408_52826633 | 52806580 | T | TAAAGAAC others(311): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0004 | a0004c0012 | a0004c0012t0024 | a0004c0012t0024g0255 | 1 | 422 | 0.0024 | 318 | c.142 others(335): Show |
ZNF28 | ENSG00000198538.11 | transcript | ENST00000457749.7 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
ZNF28_chr19_52792408_52826633 | 52806580 | T | TAAAGAAC others(311): Show |
intron_variant | MODIFIER | HG02647.hp1 HG03098.hp2 HG03471.hp1 others(1): Show |
a0004a0011a0016 | a0004c0004a0011c0013a0016c0017 | a0004c0004t0030a0011c0013t0031a0011c0013t0034others(1): Show | a0004c0004t0030g0101 a0011c0013t0031g0318 a0011c0013t0034g0055 others(1): Show |
4 | 422 | 0.0095 | 318 | c.142 others(335): Show |
ZNF28 | ENSG00000198538.11 | transcript | ENST00000457749.7 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
ZNF28_chr19_52792408_52826633 | 52806580 | T | TAAAGAAC others(311): Show |
intron_variant | MODIFIER | HG03486.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0050 | a0001c0001t0038g0324 a0001c0001t0050g0328 |
2 | 422 | 0.0047 | 318 | c.142 others(335): Show |
ZNF28 | ENSG00000198538.11 | transcript | ENST00000457749.7 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
ZNF28_chr19_52792408_52826633 | 52806580 | T | TAAAGAAC others(311): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0352 | 1 | 422 | 0.0024 | 318 | c.142 others(335): Show |
ZNF28 | ENSG00000198538.11 | transcript | ENST00000457749.7 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
ZNF28_chr19_52792408_52826633 | 52806580 | T | TAAAGAAC others(311): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0015 | a0015c0018 | a0015c0018t0036 | a0015c0018t0036g0323 | 1 | 422 | 0.0024 | 318 | c.142 others(335): Show |
ZNF28 | ENSG00000198538.11 | transcript | ENST00000457749.7 | protein_coding | 3/3 | chr19 | TogoVar | |||||||
ZNF430_chr19_21015657_21065050 | 21019661 | A | AATATATA others(311): Show |
upstream_gene_variant | MODIFIER | HG04184.hp2 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0120 |
2 | 298 | 0.0067 | 318 | c.-11 others(329): Show |
ZNF430 | ENSG00000118620.13 | transcript | ENST00000261560.10 | protein_coding | 995 | chr19 | TogoVar | |||||||
ZNF471_chr19_56502855_56535212 | 56512196 | T | TAAGAAGT others(311): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0003 | a0003c0003t0023 | a0003c0003t0023g0133 | 1 | 412 | 0.0024 | 318 | c.33+ others(331): Show |
ZNF471 | ENSG00000196263.8 | transcript | ENST00000308031.10 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF486_chr19_20162214_20205488 | 20198932 | T | TAAAAAAA others(311): Show |
3_prime_UTR_variant | MODIFIER | HG02922.hp1 HG02976.hp2 NA18906.hp2 |
a0002 | a0002c0003 | a0002c0003t0011 | a0002c0003t0011g0006 a0002c0003t0011g0046 |
3 | 382 | 0.0079 | 318 | c.*84 others(327): Show |
ZNF486 | ENSG00000256229.8 | transcript | ENST00000335117.9 | protein_coding | 4/4 | 845 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF732_chr4_265675_310474 | 299465 | A | ATATATAC others(311): Show |
intron_variant | MODIFIER | HG01070.hp1 | a0004 | a0004c0003 | a0004c0003t0003 | a0004c0003t0003g0025 | 1 | 326 | 0.0031 | 318 | c.4-3 others(331): Show |
ZNF732 | ENSG00000186777.13 | transcript | ENST00000419098.6 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
ZNF737_chr19_20532992_20570781 | 20563166 | A | AAGTTTCC others(311): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01257.hp1 others(9): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0015 | a0001c0002t0002g0215 a0001c0002t0002g0216 a0001c0002t0002g0226 others(9): Show |
12 | 336 | 0.0357 | 318 | c.3+2 others(331): Show |
ZNF737 | ENSG00000237440.9 | transcript | ENST00000427401.9 | protein_coding | 1/3 | chr19 | TogoVar | |||||||
ZNF778_chr16_89212703_89242141 | 89224967 | T | TAAGATGC others(311): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0135 | 1 | 434 | 0.0023 | 318 | c.328 others(333): Show |
ZNF778 | ENSG00000170100.14 | transcript | ENST00000433976.7 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ZNG1B_chr2_113432691_113501204 | 113464501 | G | GAAAAGAA others(311): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02965.hp1 HG04184.hp1 others(2): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0002a0002c0002t0006a0002c0002t0009others(1): Show | a0002c0002t0002g0204 a0002c0002t0002g0207 a0002c0002t0006g0170 others(2): Show |
5 | 276 | 0.0181 | 318 | c.663 others(333): Show |
ZNG1B | ENSG00000136682.16 | transcript | ENST00000259199.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZNG1B_chr2_113432691_113501204 | 113464501 | G | GAAAAGAA others(311): Show |
intron_variant | MODIFIER | NA19062.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0212 | 1 | 276 | 0.0036 | 318 | c.663 others(333): Show |
ZNG1B | ENSG00000136682.16 | transcript | ENST00000259199.9 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ZSCAN32_chr16_3377085_3406004 | 3393202 | T | TTCTATAT others(311): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0113 | 1 | 400 | 0.0025 | 318 | c.532 others(333): Show |
ZSCAN32 | ENSG00000140987.21 | transcript | ENST00000396852.9 | protein_coding | 3/6 | chr16 | TogoVar | |||||||
ZYG11A_chr1_52837760_52899998 | 52840939 | C | CTTACCAG others(311): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0016 | a0001c0016t0004 | a0001c0016t0004g0137 | 1 | 290 | 0.0035 | 318 | c.-19 others(329): Show |
ZYG11A | ENSG00000203995.11 | transcript | ENST00000371528.2 | protein_coding | 1820 | chr1 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70286077 | A | AAGGACTG others(312): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0244 | 1 | 362 | 0.0028 | 319 | c.-21 others(336): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 1/20 | chr16 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56392004 | T | TTTTTTTT others(312): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(28): Show |
a0001a0015 | a0001c0005a0015c0021 | a0001c0005t0001a0001c0005t0005a0015c0021t0001 | a0001c0005t0001g0011 a0001c0005t0001g0028 a0001c0005t0001g0032 others(27): Show |
31 | 382 | 0.0812 | 319 | c.-46 others(330): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4514 | chr4 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43852946 | G | GAAAGATT others(312): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show |
a0003 | a0003c0010 | a0003c0010t0023a0003c0010t0123 | a0003c0010t0023g0036 a0003c0010t0023g0037 a0003c0010t0023g0039 others(1): Show |
4 | 318 | 0.0126 | 319 | c.964 others(332): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128037836 | T | TCTTAAAT others(312): Show |
3_prime_UTR_variant | MODIFIER | NA18747.hp2 NA18939.hp2 |
a0002 | a0002c0002 | a0002c0002t0049a0002c0002t0054 | a0002c0002t0049g0300 a0002c0002t0054g0275 |
2 | 344 | 0.0058 | 319 | c.*20 others(330): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 2040 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABI1_chr10_26741596_26865958 | 26751417 | G | GAAAGAAT others(312): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0320 | 1 | 358 | 0.0028 | 319 | c.127 others(336): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 10/10 | chr10 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1118913 | T | TCCCAGCG others(312): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0010 | 1 | 337 | 0.0030 | 319 | c.246 others(336): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1119197 | T | TTCTCCCC others(312): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0014 | a0001c0014t0010 | a0001c0014t0010g0307 | 1 | 337 | 0.0030 | 319 | c.246 others(336): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37136053 | T | TAAAAATT others(312): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0119 | 1 | 299 | 0.0033 | 319 | c.568 others(338): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 45/55 | chr17 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289847 | G | GTCTCTGC others(312): Show |
downstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 295 | 0.0034 | 319 | c.*37 others(330): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2543 | chr1 | TogoVar |