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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGL_chr1_99845361_99929020 | 99907693 | G | GTTTTTTG others(10): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0107 | 1 | 131 | 0.0076 | 17 | c.370 others(36): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 27/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGL_chr1_99845361_99929020 | 99907693 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0253 | 1 | 131 | 0.0076 | 17 | c.370 others(36): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 27/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGL_chr1_99845361_99929020 | 99907693 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0169 | 1 | 131 | 0.0076 | 17 | c.370 others(36): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 27/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGMAT_chr1_15566699_15590051 | 15576740 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02132.hp1 others(3): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0001c0002t0063a0002c0001t0001others(2): Show | a0001c0002t0002g0033 a0001c0002t0063g0146 a0002c0001t0001g0223 others(2): Show |
6 | 17 | 0.3529 | 17 | c.900 others(32): Show |
AGMAT | ENSG00000116771.6 | transcript | ENST00000375826.4 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15270596 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0209 | 1 | 12 | 0.0833 | 17 | c.126 others(38): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15342172 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02486.hp1 HG02559.hp1 others(1): Show |
a0001a0004a0006 | a0001c0001a0004c0008a0006c0012 | a0001c0001t0001a0004c0008t0011a0006c0012t0001 | a0001c0001t0001g0152 a0001c0001t0001g0206 a0004c0008t0011g0226 others(1): Show |
4 | 57 | 0.0702 | 17 | c.126 others(38): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15361546 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0004 | a0004c0008 | a0004c0008t0011 | a0004c0008t0011g0226 | 1 | 70 | 0.0143 | 17 | c.126 others(36): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15365380 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00735.hp1 HG01106.hp2 others(26): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0026 a0001c0001t0001g0035 a0001c0001t0001g0038 others(26): Show |
29 | 66 | 0.4394 | 17 | c.126 others(34): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15493361 | A | ACACACAC others(10): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0207 | 1 | 228 | 0.0044 | 17 | c.409 others(36): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15493362 | C | CACACACA others(10): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03098.hp2 HG03225.hp2 others(1): Show |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0008a0002c0002t0001 | a0001c0003t0008g0211 a0002c0002t0001g0059 a0002c0002t0001g0213 others(1): Show |
4 | 107 | 0.0374 | 17 | c.409 others(36): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGPAT3_chr21_43860223_43992592 | 43962892 | T | TGACCCAC others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(109): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0153 a0001c0001t0001g0163 a0001c0001t0001g0168 others(109): Show |
112 | 340 | 0.3294 | 17 | c.178 others(34): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
AGPAT4_chr6_161124967_161279061 | 161228661 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02135.hp1 HG02970.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0046 | a0001c0001t0003g0154 a0001c0001t0003g0226 a0001c0001t0012g0035 others(2): Show |
5 | 137 | 0.0365 | 17 | c.178 others(34): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT5_chr8_6703642_6766503 | 6762132 | T | TAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0032 | 1 | 77 | 0.0130 | 17 | c.*47 others(28): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 630 | chr8 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246834474 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG01258.hp1 HG06807.hp1 NA19009.hp1 others(1): Show |
a0003a0009 | a0003c0003a0009c0014 | a0003c0003t0001a0009c0014t0001 | a0003c0003t0001g0208 a0003c0003t0001g0210 a0003c0003t0001g0229 others(1): Show |
4 | 88 | 0.0455 | 17 | c.*63 others(28): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4623 | chr1 | TogoVar | |||||||
AHCYL2_chr7_129220030_129435211 | 129299369 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 11 | 0.0909 | 17 | c.363 others(36): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHDC1_chr1_27529245_27609144 | 27608849 | T | TGTGTGTG others(10): Show |
upstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 172 | 0.0058 | 17 | c.-56 others(28): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 4706 | chr1 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135364961 | G | GGGAGAGG others(10): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0021 | a0001c0021t0010 | a0001c0021t0010g0181 | 1 | 218 | 0.0046 | 17 | c.311 others(36): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135389235 | C | CGGGAGGC others(10): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01891.hp2 HG02145.hp2 others(12): Show |
a0001a0011 | a0001c0001a0011c0020 | a0001c0001t0003a0001c0001t0004a0001c0001t0017others(1): Show | a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 others(12): Show |
15 | 218 | 0.0688 | 17 | c.310 others(36): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 318260 | C | CTTTACCT others(10): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG01192.hp2 HG02698.hp2 others(1): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0007 | a0001c0001t0002a0001c0001t0040a0002c0002t0006others(1): Show | a0001c0001t0002g0137 a0001c0001t0040g0055 a0002c0002t0006g0020 others(1): Show |
4 | 221 | 0.0181 | 17 | c.-35 others(28): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3453 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 340688 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0006 | a0006c0006 | a0006c0006t0030 | a0006c0006t0030g0231 | 1 | 103 | 0.0097 | 17 | c.-10 others(34): 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(10): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0006 | a0006c0006 | a0006c0006t0031 | a0006c0006t0031g0239 | 1 | 103 | 0.0097 | 17 | c.-10 others(34): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 436256 | G | GAGGGACC others(10): Show |
3_prime_UTR_variant | MODIFIER | HG02055.hp2 | a0005 | a0005c0005 | a0005c0005t0039 | a0005c0005t0039g0250 | 1 | 266 | 0.0038 | 17 | c.*14 others(28): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 11/11 | 1456 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AHRR_chr5_316714_443285 | 441497 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 HG04184.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0042 | a0002c0002t0001g0053 a0002c0002t0042g0166 |
2 | 14 | 0.1429 | 17 | c.*66 others(28): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3213 | chr5 | TogoVar | |||||||
AIG1_chr6_143055889_143346058 | 143143528 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA18983.hp1 NA19006.hp2 NA19084.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003 | a0001c0002t0001g0058 a0001c0002t0002g0036 a0001c0002t0003g0060 |
3 | 68 | 0.0441 | 17 | c.297 others(34): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143143528 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18979.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0140 a0001c0002t0001g0059 |
2 | 67 | 0.0299 | 17 | c.297 others(34): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143143528 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0018 | 1 | 66 | 0.0152 | 17 | c.297 others(34): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143143528 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG00408.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 a0001c0001t0001g0130 |
2 | 67 | 0.0299 | 17 | c.297 others(34): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIG1_chr6_143055889_143346058 | 143143528 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA18957.hp2 NA18994.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0021 a0001c0002t0003g0022 |
2 | 67 | 0.0299 | 17 | c.297 others(34): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | chr6 | TogoVar | |||||||
AIMP2_chr7_6004272_6028834 | 6009966 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0265 | 1 | 421 | 0.0024 | 17 | c.135 others(32): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
AIMP2_chr7_6004272_6028834 | 6009972 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG01167.hp2 NA18997.hp1 NA19002.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0034 a0001c0001t0001g0257 a0001c0001t0002g0352 |
4 | 354 | 0.0113 | 17 | c.135 others(32): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 47 | 0.0213 | 17 | c.135 others(32): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01258.hp2 HG02135.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0121 others(2): Show |
6 | 52 | 0.1154 | 17 | c.135 others(32): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAAAAT others(10): Show |
intron_variant | MODIFIER | HG00673.hp1 HG00741.hp2 HG01070.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0169 a0001c0002t0001g0005 a0001c0002t0001g0025 others(8): Show |
17 | 63 | 0.2698 | 17 | c.135 others(32): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAATAT others(10): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02080.hp1 NA18941.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0203 a0001c0002t0001g0030 a0001c0002t0001g0199 others(4): Show |
8 | 54 | 0.1481 | 17 | c.135 others(32): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | HG02074.hp2 NA18960.hp2 NA18967.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0001 | a0001c0001t0001g0226 a0001c0001t0007g0228 a0001c0002t0001g0227 others(1): Show |
4 | 50 | 0.0800 | 17 | c.135 others(32): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0340 | 1 | 47 | 0.0213 | 17 | c.135 others(32): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
AIRE_chr21_44280876_44303648 | 44303441 | A | AAAAAAAA others(10): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 HG02717.hp1 HG03516.hp2 others(3): Show |
a0001a0002a0003 | a0001c0004a0002c0002a0002c0007others(2): Show | a0001c0004t0001a0002c0002t0001a0002c0007t0003others(2): Show | a0001c0004t0001g0077 a0002c0002t0001g0043 a0002c0007t0003g0098 others(2): Show |
6 | 297 | 0.0202 | 17 | c.*57 others(28): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 4794 | chr21 | TogoVar | |||||||
AJM1_chr9_136837478_136853801 | 136842501 | C | CGTGCCGG others(10): Show |
5_prime_UTR_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0001 | 1 | 362 | 0.0028 | 17 | c.-22 others(26): Show |
AJM1 | ENSG00000232434.3 | transcript | ENST00000436881.3 | protein_coding | 1/3 | 1885 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AJM1_chr9_136837478_136853801 | 136849706 | G | GCTGCGGG others(10): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 362 | 0.0055 | 17 | c.*23 others(28): Show |
AJM1 | ENSG00000232434.3 | transcript | ENST00000436881.3 | protein_coding | 906 | chr9 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4735478 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0092 | 1 | 414 | 0.0024 | 17 | c.151 others(34): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AK5_chr1_77277019_77564966 | 77367554 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 273 | 0.0037 | 17 | c.891 others(36): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | chr1 | TogoVar | |||||||
AK5_chr1_77277019_77564966 | 77368223 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0025 | a0002c0002t0025g0277 | 1 | 282 | 0.0035 | 17 | c.891 others(36): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK6_chr5_69345984_69374520 | 69349401 | G | GGCTAATC others(10): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 NA18522.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0147 a0001c0001t0006g0045 |
3 | 420 | 0.0071 | 17 | c.*26 others(28): Show |
AK6 | ENSG00000085231.14 | transcript | ENST00000380822.9 | protein_coding | 1582 | chr5 | TogoVar | |||||||
AK7_chr14_96387128_96494427 | 96418322 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00621.hp1 HG00741.hp2 others(25): Show |
a0001a0002a0005 | a0001c0001a0001c0006a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0006others(4): Show | a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0091 others(25): Show |
28 | 58 | 0.4828 | 17 | c.499 others(34): Show |
AK7 | ENSG00000140057.9 | transcript | ENST00000267584.9 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AK8_chr9_132720578_132883284 | 132765292 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02647.hp1 HG03139.hp1 others(1): Show |
a0001a0002a0010 | a0001c0001a0002c0002a0010c0007 | a0001c0001t0001a0002c0002t0001a0010c0007t0001 | a0001c0001t0001g0189 a0002c0002t0001g0008 a0002c0002t0001g0010 others(1): Show |
4 | 90 | 0.0444 | 17 | c.112 others(38): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 11/12 | chr9 | TogoVar | |||||||
AK9_chr6_109487855_109696202 | 109636783 | C | CACACACA others(10): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0277 | 1 | 372 | 0.0027 | 17 | c.934 others(34): Show |
AK9 | ENSG00000155085.16 | transcript | ENST00000424296.7 | protein_coding | 10/40 | chr6 | TogoVar | |||||||
AKAP12_chr6_151234967_151363559 | 151304488 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02280.hp1 HG03688.hp1 others(1): Show |
a0001a0004a0005 | a0001c0003a0001c0071a0004c0006others(1): Show | a0001c0003t0020a0001c0071t0001a0004c0006t0001others(1): Show | a0001c0003t0020g0201 a0001c0071t0001g0004 a0004c0006t0001g0012 others(1): Show |
4 | 21 | 0.1905 | 17 | c.163 others(34): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85504503 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01884.hp2 NA19074.hp2 |
a0001a0002 | a0001c0002a0001c0004a0002c0001 | a0001c0002t0019a0001c0004t0001a0002c0001t0007 | a0001c0002t0019g0266 a0001c0004t0001g0211 a0002c0001t0007g0184 |
3 | 13 | 0.2308 | 17 | c.34- others(34): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AKAP1_chr17_57080246_57126344 | 57119830 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG01070.hp1 others(50): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(6): Show | a0001c0001t0001g0007 a0001c0001t0001g0013 a0001c0001t0001g0014 others(41): Show |
53 | 177 | 0.2994 | 17 | c.263 others(34): Show |
AKAP1 | ENSG00000121057.13 | transcript | ENST00000337714.8 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AKAP5_chr14_64460499_64479503 | 64463227 | A | ACACACAC others(10): Show |
upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 152 | 0.0066 | 17 | c.-26 others(28): Show |
AKAP5 | ENSG00000179841.8 | transcript | ENST00000394718.4 | protein_coding | 2271 | chr14 | TogoVar |