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 | 86286735 | G | GTGTGTAT others(19): Show |
intron_variant | MODIFIER | HG01884.hp1 NA19030.hp2 |
a0001 | a0001c0010a0001c0055 | a0001c0010t0067a0001c0055t0009 | a0001c0010t0067g0069 a0001c0055t0009g0064 |
2 | 73 | 0.0274 | 26 | c.222 others(45): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86298246 | A | AATATATA others(19): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02647.hp2 |
a0001 | a0001c0002a0001c0052 | a0001c0002t0011a0001c0052t0026 | a0001c0002t0011g0005 a0001c0052t0026g0126 |
2 | 28 | 0.0714 | 26 | c.237 others(45): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86735653 | G | GCTATATA others(19): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 90 | 0.0111 | 26 | c.315 others(47): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 22/22 | chr15 | TogoVar | |||||||
AGBL1_chr15_86074871_86921156 | 86895052 | T | TCCCTTTC others(19): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02280.hp1 |
a0001 | a0001c0001a0001c0003a0001c0053 | a0001c0001t0008a0001c0003t0008a0001c0053t0008 | a0001c0001t0008g0106 a0001c0003t0008g0125 a0001c0053t0008g0012 |
3 | 124 | 0.0242 | 26 | c.315 others(47): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL2_chr11_47654591_47720369 | 47678335 | A | ATTTTATT others(19): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0038 | 1 | 287 | 0.0035 | 26 | c.201 others(43): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 13/18 | chr11 | TogoVar | |||||||
AGBL2_chr11_47654591_47720369 | 47678335 | A | ATTTTATT others(19): Show |
intron_variant | MODIFIER | HG02738.hp2 HG04115.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0014 a0002c0002t0002g0033 |
2 | 288 | 0.0069 | 26 | c.201 others(43): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 13/18 | chr11 | TogoVar | |||||||
AGBL2_chr11_47654591_47720369 | 47678335 | A | ATTTTATT others(19): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0097 | 1 | 287 | 0.0035 | 26 | c.201 others(43): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 13/18 | chr11 | TogoVar | |||||||
AGBL2_chr11_47654591_47720369 | 47678343 | A | ATTATTTT others(19): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 NA19056.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0094 a0002c0002t0002g0098 a0002c0002t0002g0103 |
3 | 275 | 0.0109 | 26 | c.201 others(43): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 13/18 | chr11 | TogoVar | |||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02572.hp1 NA19089.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0201 a0002c0002t0002g0023 |
2 | 9 | 0.2222 | 26 | c.848 others(41): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | |||||||
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0332 | 1 | 8 | 0.1250 | 26 | c.848 others(41): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | |||||||
AGBL4_chr1_48527854_50028954 | 48837711 | C | CTATATAT others(19): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0076 | 1 | 23 | 0.0435 | 26 | c.634 others(45): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 6/13 | chr1 | TogoVar | |||||||
AGFG2_chr7_100534203_100573220 | 100551030 | T | TTATATAT others(19): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 49 | 0.0204 | 26 | c.431 others(41): Show |
AGFG2 | ENSG00000106351.13 | transcript | ENST00000300176.9 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AGK_chr7_141546410_141660244 | 141602173 | T | TTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG01099.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0032 a0001c0001t0001g0036 a0001c0001t0001g0053 others(7): Show |
10 | 109 | 0.0917 | 26 | c.297 others(41): Show |
AGK | ENSG00000006530.18 | transcript | ENST00000649286.2 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15299830 | T | TACACACA others(19): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 119 | 0.0084 | 26 | c.126 others(47): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15354489 | C | CGCGTGTG others(19): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0116 | 1 | 219 | 0.0046 | 26 | c.126 others(47): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15365380 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG01074.hp1 others(5): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0032 a0001c0001t0001g0062 a0001c0001t0001g0098 others(5): Show |
8 | 45 | 0.1778 | 26 | c.126 others(43): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15407232 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01081.hp2 HG01433.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0036 a0001c0001t0001g0219 a0001c0001t0002g0023 others(2): Show |
5 | 123 | 0.0407 | 26 | c.609 others(45): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 5/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15432369 | C | CACATATA others(19): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 143 | 0.0070 | 26 | c.410 others(43): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15432379 | T | TATATATG others(19): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03195.hp1 |
a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0050 a0001c0011t0001g0210 |
2 | 126 | 0.0159 | 26 | c.410 others(43): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15459599 | T | TTGTGTGT others(19): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01081.hp2 HG01109.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0030 a0001c0001t0001g0032 a0001c0001t0001g0035 others(22): Show |
25 | 68 | 0.3676 | 26 | c.410 others(45): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15530991 | A | ATATATTC others(19): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03139.hp1 |
a0006 | a0006c0012 | a0006c0012t0001a0006c0012t0003 | a0006c0012t0001g0222 a0006c0012t0003g0223 |
2 | 233 | 0.0086 | 26 | c.409 others(45): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGO3_chr1_35926105_36077500 | 36045561 | C | CGCTAGAG others(19): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0037 | 1 | 250 | 0.0040 | 26 | c.227 others(45): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGO4_chr1_35803016_35862890 | 35841811 | C | CATATATA others(19): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013 | 2 | 25 | 0.0800 | 26 | c.217 others(41): Show |
AGO4 | ENSG00000134698.11 | transcript | ENST00000373210.4 | protein_coding | 15/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGPAT3_chr21_43860223_43992592 | 43959082 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(134): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0151 a0001c0001t0001g0153 a0001c0001t0001g0163 others(134): Show |
137 | 289 | 0.4740 | 26 | c.-48 others(41): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
AGPAT3_chr21_43860223_43992592 | 43990947 | G | GTATATAT others(19): Show |
downstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 158 | 0.0063 | 26 | c.*85 others(37): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 3356 | chr21 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161228661 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0107 | 1 | 133 | 0.0075 | 26 | c.178 others(43): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGRN_chr1_1015120_1061116 | 1030777 | G | GCAGCGCA others(19): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0047 | a0001c0047t0001 | a0001c0047t0001g0063 | 1 | 208 | 0.0048 | 26 | c.464 others(43): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 2/35 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246909317 | T | TGAGGCAG others(19): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02083.hp2 HG02273.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0063 a0002c0002t0001g0064 a0002c0002t0001g0065 others(2): Show |
5 | 374 | 0.0134 | 26 | c.557 others(43): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4/35 | chr1 | TogoVar | |||||||
AHCYL2_chr7_129220030_129435211 | 129365628 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017 | a0001c0001t0001g0057 a0001c0001t0017g0067 |
2 | 145 | 0.0138 | 26 | c.364 others(45): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135344926 | T | TCACACAC others(19): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0046 | 1 | 72 | 0.0139 | 26 | c.316 others(47): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135482894 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01952.hp2 HG02258.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0170 a0001c0001t0002g0171 a0001c0001t0002g0203 others(2): Show |
5 | 45 | 0.1111 | 26 | c.135 others(43): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0179 | 1 | 103 | 0.0097 | 26 | c.-10 others(43): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0007 | a0007c0007 | a0007c0007t0007 | a0007c0007t0007g0238 | 1 | 103 | 0.0097 | 26 | c.-10 others(43): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AIF1_chr6_31610234_31622015 | 31618312 | A | ATTTCTGC others(19): Show |
downstream_gene_variant | MODIFIER | HG00673.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 436 | 0.0023 | 26 | c.*14 others(37): Show |
AIF1 | ENSG00000204472.13 | transcript | ENST00000376059.8 | protein_coding | 1298 | chr6 | TogoVar | |||||||
AIG1_chr6_143055889_143346058 | 143143528 | A | AAAATATA others(19): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0153 | 1 | 66 | 0.0152 | 26 | c.297 others(43): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAAATA others(19): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0298 | 1 | 47 | 0.0213 | 26 | c.135 others(41): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIPL1_chr17_6418738_6440121 | 6433586 | A | ATCTCTCT others(19): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0217 | 1 | 197 | 0.0051 | 26 | c.276 others(41): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
AIRE_chr21_44280876_44303648 | 44294046 | C | CCACCCCA others(19): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02809.hp2 HG02922.hp2 others(1): Show |
a0001a0003 | a0001c0016a0003c0020 | a0001c0016t0004a0003c0020t0001a0003c0020t0008 | a0001c0016t0004g0031 a0003c0020t0001g0209 a0003c0020t0008g0228 |
4 | 423 | 0.0095 | 26 | c.140 others(43): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65172063 | G | GTATATAT others(19): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0081 | 1 | 59 | 0.0169 | 26 | c.146 others(45): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65172103 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG02129.hp1 NA18956.hp2 NA19057.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0022 | a0001c0002t0005g0246 a0001c0002t0005g0248 a0001c0002t0005g0249 others(1): Show |
4 | 259 | 0.0154 | 26 | c.146 others(45): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77358018 | T | TGTGTGTG others(19): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01361.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0096 a0002c0002t0002g0097 |
2 | 76 | 0.0263 | 26 | c.891 others(45): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77368245 | A | ATATATAT others(19): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp1 others(32): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0049 a0001c0001t0001g0075 a0001c0001t0001g0077 others(32): Show |
35 | 117 | 0.2991 | 26 | c.891 others(45): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77391495 | G | GTGTGTAT others(19): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01952.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0025 a0001c0001t0004g0093 a0001c0001t0004g0272 others(1): Show |
4 | 178 | 0.0225 | 26 | c.892 others(45): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK7_chr14_96387128_96494427 | 96415748 | T | TAATCAAT others(19): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0265 | 1 | 225 | 0.0044 | 26 | c.499 others(43): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AK7_chr14_96387128_96494427 | 96415748 | T | TAATTAAT others(19): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00544.hp1 others(66): Show |
a0001a0002a0013 | a0001c0001a0001c0007a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(6): Show | a0001c0001t0001g0015 a0001c0001t0001g0025 a0001c0001t0001g0029 others(66): Show |
69 | 293 | 0.2355 | 26 | c.499 others(43): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AK7_chr14_96387128_96494427 | 96415755 | T | TTTAATAC others(19): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 314 | 0.0032 | 26 | c.499 others(43): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AK7_chr14_96387128_96494427 | 96418322 | T | TAAAAAAA others(19): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01516.hp1 HG01517.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0022 a0001c0001t0001g0126 a0001c0001t0001g0239 others(4): Show |
7 | 37 | 0.1892 | 26 | c.499 others(43): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AK9_chr6_109487855_109696202 | 109549664 | C | CTTTTTTT others(19): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0261 | 1 | 108 | 0.0093 | 26 | c.296 others(43): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 25/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109636750 | T | TCACACAC others(19): Show |
intron_variant | MODIFIER | NA18961.hp1 NA19068.hp2 |
a0003 | a0003c0001 | a0003c0001t0002 | a0003c0001t0002g0372 a0003c0001t0002g0373 |
2 | 59 | 0.0339 | 26 | c.934 others(43): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 10/40 | chr6 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109695579 | T | TACACACA others(19): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0280 | 1 | 226 | 0.0044 | 26 | c.-44 others(37): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 4378 | chr6 | TogoVar |