regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGBL2_chr11_47654591_47720369 | 47675199 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG03130.hp2 HG03486.hp2 |
a0006 | a0006c0004 | a0006c0004t0002 | a0006c0004t0002g0344a0006c0004t0002g0345a0006c0004t0002g0346 | 3 | 356 | 0.0084 | -13 | c.214 others(32): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 14/18 | chr11 | TogoVar | ||||||
AGBL4_chr1_48527854_50028954 | 49339141 | GTTACTGC others(6): Show |
G | intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 104 | 0.0096 | -13 | c.283 others(32): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 3/13 | chr1 | TogoVar | ||||||
AGFG1_chr2_227467156_227566217 | 227497730 | GTTTTGTT others(6): Show |
G | intron_variant | MODIFIER | HG00738.hp2 HG02109.hp2 HG02135.hp1 others(19): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0041a0001c0004t0006a0001c0004t0009others(1): Show | a0001c0001t0041g0081a0001c0004t0006g0001a0001c0004t0006g0031others(18): Show | 22 | 328 | 0.0671 | -13 | c.261 others(30): Show |
AGFG1 | ENSG00000173744.18 | transcript | ENST00000310078.13 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGFG2_chr7_100534203_100573220 | 100570843 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0162 | 1 | 246 | 0.0041 | -13 | c.*58 others(24): Show |
AGFG2 | ENSG00000106351.13 | transcript | ENST00000300176.9 | protein_coding | 2624 | chr7 | TogoVar | ||||||
AGK_chr7_141546410_141660244 | 141575654 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 274 | 0.0037 | -13 | c.102 others(32): Show |
AGK | ENSG00000006530.18 | transcript | ENST00000649286.2 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AGK_chr7_141546410_141660244 | 141591082 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG01261.hp1 HG02258.hp1 HG02723.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0002c0002t0003 | a0001c0001t0003g0265a0001c0001t0003g0266a0001c0001t0003g0267others(5): Show | 9 | 274 | 0.0329 | -13 | c.102 others(30): Show |
AGK | ENSG00000006530.18 | transcript | ENST00000649286.2 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AGK_chr7_141546410_141660244 | 141597890 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 274 | 0.0037 | -13 | c.221 others(30): Show |
AGK | ENSG00000006530.18 | transcript | ENST00000649286.2 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AGK_chr7_141546410_141660244 | 141633409 | CACTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02922.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0006a0003c0003t0010 | a0001c0001t0001g0228a0001c0001t0006g0224a0001c0001t0006g0225others(2): Show | 5 | 274 | 0.0183 | -13 | c.589 others(28): Show |
AGK | ENSG00000006530.18 | transcript | ENST00000649286.2 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AGMO_chr7_15195317_15567015 | 15202458 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG03041.hp1 HG03209.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0218a0002c0002t0001g0021a0002c0002t0001g0022 | 3 | 236 | 0.0127 | -13 | c.126 others(32): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15529608 | GTATATAT others(6): Show |
G | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 236 | 0.0042 | -13 | c.409 others(32): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15529644 | ATACTATA others(6): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0008 | a0008c0023 | a0008c0023t0007 | a0008c0023t0007g0227 | 1 | 236 | 0.0042 | -13 | c.409 others(32): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15531347 | CTATATAT others(6): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG01106.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0070a0001c0001t0001g0071a0001c0001t0001g0072others(6): Show | 9 | 236 | 0.0381 | -13 | c.409 others(32): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15531522 | TTCTATAT others(6): Show |
T | intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 236 | 0.0042 | -13 | c.409 others(32): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGO2_chr8_140515156_140640633 | 140612220 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03209.hp2 NA18994.hp2 |
a0001 | a0001c0003a0001c0013 | a0001c0003t0011a0001c0013t0001 | a0001c0003t0011g0336a0001c0013t0001g0026 | 2 | 338 | 0.0059 | -13 | c.22+ others(30): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
AGO2_chr8_140515156_140640633 | 140614015 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02280.hp1 NA18522.hp2 |
a0001 | a0001c0009a0001c0018 | a0001c0009t0050a0001c0018t0011 | a0001c0009t0050g0301a0001c0018t0011g0302 | 2 | 338 | 0.0059 | -13 | c.22+ others(30): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
AGO4_chr1_35803016_35862890 | 35816798 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp2 HG00558.hp2 others(89): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0059a0001c0001t0001g0060a0001c0001t0001g0076others(85): Show | 92 | 270 | 0.3407 | -13 | c.20- others(24): Show |
AGO4 | ENSG00000134698.11 | transcript | ENST00000373210.4 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGPAT3_chr21_43860223_43992592 | 43926636 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01891.hp2 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0072 | a0001c0001t0006g0205a0001c0001t0072g0209 | 2 | 342 | 0.0059 | -13 | c.-49 others(32): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
AGPAT4_chr6_161124967_161279061 | 161127418 | CTGAGAGG others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00621.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(13): Show | a0001c0001t0002g0029a0001c0001t0002g0064a0001c0001t0002g0066others(36): Show | 39 | 264 | 0.1477 | -13 | c.*91 others(24): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2548 | chr6 | TogoVar | ||||||
AGRN_chr1_1015120_1061116 | 1056429 | GTACGTGT others(6): Show |
G | downstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 210 | 0.0048 | -13 | c.*14 others(24): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 314 | chr1 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85572004 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG00741.hp1 HG01106.hp1 others(25): Show |
a0001a0002a0007 | a0001c0001a0002c0003a0007c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0022a0001c0001t0001g0094a0001c0001t0001g0095others(25): Show | 28 | 302 | 0.0927 | -13 | c.350 others(32): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 25/25 | chr9 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85698679 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01255.hp1 HG02293.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0081a0001c0001t0001g0094a0001c0001t0001g0095others(8): Show | 11 | 302 | 0.0364 | -13 | c.33- others(28): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 2/25 | chr9 | TogoVar | ||||||
AGXT2_chr5_34993102_35052949 | 35031943 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG01891.hp2 HG02896.hp1 HG02897.hp2 others(4): Show |
a0002a0017 | a0002c0002a0002c0021a0017c0033 | a0002c0002t0004a0002c0021t0004a0017c0033t0002 | a0002c0002t0004g0067a0002c0002t0004g0068a0002c0002t0004g0069others(4): Show | 7 | 384 | 0.0182 | -13 | c.769 others(28): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 7/13 | chr5 | TogoVar | ||||||
AGXT_chr2_240863824_240885500 | 240880574 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | NA18986.hp2 | a0002 | a0002c0003 | a0002c0003t0005 | a0002c0003t0005g0006 | 1 | 444 | 0.0023 | -13 | c.*17 others(24): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 75 | chr2 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246864846 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0033 | 1 | 376 | 0.0027 | -13 | c.334 others(30): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 26/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246920142 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 376 | 0.0027 | -13 | c.-7- others(28): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 1/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246924621 | TTTATGTG others(6): Show |
T | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0161 | 1 | 376 | 0.0027 | -13 | c.-7- others(28): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 1/35 | chr1 | TogoVar | ||||||
AHCY_chr20_34275268_34308355 | 34304377 | GGCATATA others(6): Show |
G | upstream_gene_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 300 | 0.0033 | -13 | c.-11 others(24): Show |
AHCY | ENSG00000101444.13 | transcript | ENST00000217426.7 | protein_coding | 1023 | chr20 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135374100 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0219 | 1 | 220 | 0.0046 | -13 | c.311 others(34): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135376881 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 220 | 0.0046 | -13 | c.310 others(34): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135472018 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0182 | 1 | 220 | 0.0046 | -13 | c.136 others(30): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 331642 | ACCTGTCC others(6): Show |
A | intron_variant | MODIFIER | NA18974.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0067 | 1 | 268 | 0.0037 | -13 | c.-11 others(30): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 368428 | CCAGCACA others(6): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02109.hp1 HG02109.hp2 others(28): Show |
a0002a0004a0006others(2): Show | a0002c0002a0004c0003a0006c0006others(2): Show | a0002c0002t0001a0004c0003t0007a0004c0003t0009others(15): Show | a0002c0002t0001g0257a0004c0003t0007g0221a0004c0003t0007g0230others(28): Show | 31 | 268 | 0.1157 | -13 | c.245 others(30): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3/10 | chr5 | TogoVar | ||||||
AHSP_chr16_31522900_31533803 | 31532696 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG01106.hp1 HG01243.hp1 others(88): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0002g0001a0001c0002t0001g0001others(1): Show | 91 | 388 | 0.2345 | -13 | c.*40 others(24): Show |
AHSP | ENSG00000169877.10 | transcript | ENST00000302312.9 | protein_coding | 3894 | chr16 | TogoVar | ||||||
AIDA_chr1_222663013_222717491 | 222695653 | AAGAAACA others(6): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG02602.hp1 HG03942.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0301a0001c0001t0003g0302a0001c0001t0003g0303others(1): Show | 4 | 368 | 0.0109 | -13 | c.181 others(30): Show |
AIDA | ENSG00000186063.13 | transcript | ENST00000340020.11 | protein_coding | 2/9 | chr1 | TogoVar | ||||||
AIF1_chr6_31610234_31622015 | 31619368 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 437 | 0.0023 | -13 | c.*24 others(24): Show |
AIF1 | ENSG00000204472.13 | transcript | ENST00000376059.8 | protein_coding | 2354 | chr6 | TogoVar | ||||||
AIF1_chr6_31610234_31622015 | 31621501 | CATTCCTG others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 437 | 0.0023 | -13 | c.*46 others(24): Show |
AIF1 | ENSG00000204472.13 | transcript | ENST00000376059.8 | protein_coding | 4487 | chr6 | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70125119 | GACTTCCC others(6): Show |
G | intron_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0023 | a0001c0023t0007 | a0001c0023t0007g0098 | 1 | 468 | 0.0021 | -13 | c.-13 others(30): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70133097 | AAAGAGAG others(6): Show |
A | upstream_gene_variant | MODIFIER | HG06807.hp2 NA18978.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0208a0001c0001t0001g0252 | 2 | 468 | 0.0043 | -13 | c.-39 others(22): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 273 | chr10 | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70133139 | AGAGAGAG others(6): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp2 HG02071.hp1 HG02071.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0003a0002c0004t0001others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0030a0001c0001t0001g0193others(8): Show | 11 | 468 | 0.0235 | -13 | c.-43 others(22): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 315 | chr10 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143143523 | AAAAAAAT others(6): Show |
A | intron_variant | MODIFIER | NA18943.hp1 NA19012.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0158a0001c0002t0003g0190 | 2 | 204 | 0.0098 | -13 | c.297 others(30): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AIMP1_chr4_106311550_106354456 | 106329772 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02647.hp1 HG02976.hp1 HG03139.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0023a0001c0001t0006g0177a0001c0001t0006g0178others(1): Show | 6 | 384 | 0.0156 | -13 | c.391 others(30): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AIMP1_chr4_106311550_106354456 | 106350000 | CAAAAAAA others(6): Show |
C | downstream_gene_variant | MODIFIER | HG01175.hp1 NA18612.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0013a0001c0001t0001g0102 | 3 | 384 | 0.0078 | -13 | c.*23 others(24): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 545 | chr4 | TogoVar | ||||||
AIRE_chr21_44280876_44303648 | 44300295 | GCCCGGCC others(6): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02486.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0010others(2): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(3): Show | a0001c0001t0001g0007a0001c0004t0001g0113a0001c0004t0002g0185others(7): Show | 12 | 426 | 0.0282 | -13 | c.*25 others(24): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 1648 | chr21 | TogoVar | ||||||
AIRE_chr21_44280876_44303648 | 44300319 | CGCCCCGG others(6): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01070.hp1 others(10): Show |
a0001a0002 | a0001c0004a0001c0009a0001c0024others(3): Show | a0001c0004t0003a0001c0009t0001a0001c0024t0001others(3): Show | a0001c0004t0003g0025a0001c0004t0003g0118a0001c0009t0001g0028others(7): Show | 13 | 426 | 0.0305 | -13 | c.*25 others(24): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 1672 | chr21 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4663336 | GGAAAGCA others(6): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(156): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(118): Show | a0001c0001t0001g0097a0001c0001t0001g0125a0001c0001t0001g0129others(154): Show | 159 | 334 | 0.4761 | -13 | c.29+ others(28): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4705395 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02615.hp1 HG02622.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0026a0001c0002t0044a0001c0002t0060others(2): Show | a0001c0001t0026g0167a0001c0002t0044g0029a0001c0002t0044g0030others(3): Show | 6 | 334 | 0.0180 | -13 | c.30- others(28): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJUBA_chr14_22966177_22987551 | 22968421 | ATTTTTTT others(6): Show |
A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(42): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0002a0001c0002t0013a0003c0004t0002 | a0001c0001t0002g0002a0001c0001t0002g0009a0001c0001t0002g0020others(6): Show | 45 | 334 | 0.1347 | -13 | c.*50 others(24): Show |
AJUBA | ENSG00000129474.17 | transcript | ENST00000262713.7 | protein_coding | 2755 | chr14 | TogoVar | ||||||
AK1_chr9_127861486_127882675 | 127870805 | CGGGGCAT others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(368): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(222): Show | 371 | 426 | 0.8709 | -13 | c.324 others(30): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 5/6 | chr9 | TogoVar | ||||||
AK2_chr1_33002986_33041883 | 33012227 | TCAGCATC others(6): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0058 | 1 | 350 | 0.0029 | -13 | c.*94 others(22): Show |
AK2 | ENSG00000004455.18 | transcript | ENST00000672715.1 | protein_coding | 6/6 | 941 | chr1 | TogoVar | |||||
AK4_chr1_65143203_65237145 | 65152380 | ATATATTT others(6): Show |
A | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0060 | a0001c0001t0060g0136 | 1 | 300 | 0.0033 | -13 | c.145 others(30): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |