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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGBL1_chr15_86074871_86921156 | 86741381 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02647.hp1 HG02896.hp2 others(7): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0006a0001c0002t0027a0001c0003t0056others(7): Show | a0001c0001t0006g0093 a0001c0002t0027g0080 a0001c0003t0056g0026 others(7): Show |
10 | 14 | 0.7143 | -13 | c.315 others(34): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86870454 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0125 | 1 | 12 | 0.0833 | -13 | c.315 others(34): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL2_chr11_47654591_47720369 | 47675199 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG02723.hp2 HG03130.hp2 HG03486.hp2 |
a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0345 a0005c0004t0002g0346 a0005c0004t0002g0347 |
3 | 85 | 0.0353 | -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 | a0001c0001t0041g0086 a0001c0004t0006g0004 a0001c0004t0006g0005 others(17): Show |
22 | 309 | 0.0712 | -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 | a0001c0013t0001g0121 | 1 | 73 | 0.0137 | -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 | a0001c0001t0001g0175 | 1 | 146 | 0.0068 | -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 | a0001c0001t0003g0261 a0001c0001t0003g0262 a0001c0001t0003g0263 others(5): Show |
9 | 95 | 0.0947 | -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 | a0001c0001t0001g0087 | 1 | 107 | 0.0093 | -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 |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0006a0004c0003t0010 | a0001c0001t0001g0228 a0001c0001t0006g0224 a0001c0001t0006g0225 others(2): Show |
5 | 272 | 0.0184 | -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 | a0001c0001t0001g0218 a0002c0002t0001g0021 a0002c0002t0001g0022 |
3 | 19 | 0.1579 | -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 | a0001c0001t0001g0155 | 1 | 232 | 0.0043 | -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 | a0011 | a0011c0023 | a0011c0023t0007 | a0011c0023t0007g0227 | 1 | 234 | 0.0043 | -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 | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0077 others(6): Show |
9 | 226 | 0.0398 | -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 | a0001c0001t0001g0145 | 1 | 234 | 0.0043 | -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 | a0001c0003t0012a0001c0013t0001 | a0001c0003t0012g0334 a0001c0013t0001g0028 |
2 | 19 | 0.1053 | -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 | a0001c0009t0051a0001c0018t0012 | a0001c0009t0051g0301 a0001c0018t0012g0302 |
2 | 96 | 0.0208 | -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(6): Show | a0001c0001t0001g0005 a0001c0001t0001g0075 a0001c0001t0001g0138 others(82): Show |
92 | 258 | 0.3566 | -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 | a0001c0001t0006g0205 a0001c0001t0072g0209 |
2 | 65 | 0.0308 | -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 | a0001c0001t0002g0029 a0001c0001t0002g0065 a0001c0001t0002g0066 others(36): Show |
39 | 262 | 0.1489 | -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 | a0001c0001t0001g0077 | 1 | 208 | 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 |
a0001a0002a0008 | a0001c0001a0002c0003a0008c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0022 a0001c0001t0001g0094 a0001c0001t0001g0095 others(25): Show |
28 | 131 | 0.2137 | -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 | a0001c0001t0001g0081 a0001c0001t0001g0094 a0001c0001t0001g0095 others(8): Show |
11 | 70 | 0.1571 | -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 |
a0002a0018 | a0002c0002a0002c0021a0018c0033 | a0002c0002t0004a0002c0021t0004a0018c0033t0002 | a0002c0002t0004g0076 a0002c0002t0004g0077 a0002c0002t0004g0078 others(4): Show |
7 | 37 | 0.1892 | -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 | 133 | 0.0075 | -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 | 286 | 0.0035 | -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 | 109 | 0.0092 | -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 | 374 | 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 | 298 | 0.0034 | -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 | 183 | 0.0055 | -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 | 36 | 0.0278 | -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 | 21 | 0.0476 | -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 | 266 | 0.0038 | -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 | a0002c0002t0001g0257 a0004c0003t0007g0220 a0004c0003t0007g0234 others(28): Show |
31 | 266 | 0.1165 | -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 | a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0002t0001g0001 others(1): Show |
91 | 215 | 0.4233 | -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 | a0001c0001t0001g0274 a0001c0001t0003g0275 a0001c0001t0003g0276 others(1): Show |
4 | 366 | 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 | 87 | 0.0115 | -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 | 436 | 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 | a0001c0023t0007g0097 | 1 | 466 | 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 | a0001c0001t0001g0209 a0001c0001t0001g0253 |
2 | 462 | 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 | a0001c0001t0001g0009 a0001c0001t0001g0029 a0001c0001t0001g0194 others(8): Show |
11 | 466 | 0.0236 | -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 | a0001c0002t0003g0158 a0001c0002t0003g0190 |
2 | 200 | 0.0100 | -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 | a0001c0001t0006g0023 a0001c0001t0006g0176 a0001c0001t0006g0177 others(1): Show |
6 | 120 | 0.0500 | -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 | a0001c0001t0001g0006 a0001c0001t0001g0013 a0001c0001t0001g0101 |
3 | 23 | 0.1304 | -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 | a0001c0001t0001g0007 a0001c0004t0001g0112 a0001c0004t0002g0180 others(7): Show |
12 | 424 | 0.0283 | -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 | a0001c0004t0003g0025 a0001c0004t0003g0115 a0001c0009t0001g0028 others(7): Show |
13 | 424 | 0.0307 | -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 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(111): Show | a0001c0001t0001g0145 a0001c0001t0001g0285 a0001c0001t0002g0097 others(154): Show |
159 | 332 | 0.4789 | -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 | a0001c0001t0028a0001c0002t0042a0001c0002t0057others(2): Show | a0001c0001t0028g0167 a0001c0002t0042g0029 a0001c0002t0042g0030 others(3): Show |
6 | 51 | 0.1176 | -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 |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0002a0001c0002t0013a0002c0004t0002 | a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0020 others(6): Show |
45 | 332 | 0.1355 | -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(367): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(177): Show |
370 | 421 | 0.8789 | -13 | c.324 others(30): Show |
AK1 | ENSG00000106992.19 | transcript | ENST00000644144.2 | protein_coding | 5/6 | chr9 | TogoVar |