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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGO3_chr1_35926105_36077500 | 35953657 | C | CAGAGAAT others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(125): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(45): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 others(125): Show |
128 | 256 | 0.5000 | 15 | c.191 others(32): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGO3_chr1_35926105_36077500 | 35995209 | A | AAAAATAT others(8): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0038 | 1 | 136 | 0.0074 | 15 | c.659 others(32): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGO3_chr1_35926105_36077500 | 36003694 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0114 | 1 | 196 | 0.0051 | 15 | c.659 others(30): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGO3_chr1_35926105_36077500 | 36003709 | A | AAAAAAAT others(8): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0117 | 1 | 147 | 0.0068 | 15 | c.659 others(30): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGPAT2_chr9_136668143_136692457 | 136672492 | C | CCCCTGGC others(8): Show |
downstream_gene_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 372 | 0.0027 | 15 | c.*12 others(26): Show |
AGPAT2 | ENSG00000169692.14 | transcript | ENST00000371696.7 | protein_coding | 650 | chr9 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161124979 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0193 | 1 | 253 | 0.0040 | 15 | c.*11 others(28): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 4987 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161183638 | T | TGAGGGGA others(8): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02559.hp2 HG02735.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0014a0001c0001t0019others(1): Show | a0001c0001t0005g0099 a0001c0001t0014g0138 a0001c0001t0014g0139 others(7): Show |
10 | 233 | 0.0429 | 15 | c.179 others(34): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161205761 | T | TAATAATA others(8): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0197 | 1 | 53 | 0.0189 | 15 | c.178 others(34): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161219901 | A | AGGCAGGC others(8): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0139 | 1 | 261 | 0.0038 | 15 | c.178 others(34): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161228661 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0003 | a0001c0003t0078 | a0001c0003t0078g0236 | 1 | 133 | 0.0075 | 15 | c.178 others(32): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
AGPAT5_chr8_6703642_6766503 | 6762059 | C | CAGTGAGC others(8): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 HG02698.hp2 HG03927.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0148 a0001c0001t0003g0201 a0001c0001t0003g0202 others(1): Show |
4 | 402 | 0.0100 | 15 | c.*46 others(26): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 557 | chr8 | TogoVar | |||||||
AGPAT5_chr8_6703642_6766503 | 6762132 | T | TAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0035 | 1 | 77 | 0.0130 | 15 | c.*47 others(26): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 630 | chr8 | TogoVar | |||||||
AGR3_chr7_16854412_16886983 | 16880537 | C | CTCCTCTC others(8): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0315 | 1 | 397 | 0.0025 | 15 | c.-28 others(32): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85572004 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 104 | 0.0096 | 15 | c.350 others(34): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 25/25 | chr9 | TogoVar | |||||||
AGTR1_chr3_148692903_148748003 | 148745773 | A | ATATTTTA others(8): Show |
downstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 | 1 | 44 | 0.0227 | 15 | c.*36 others(26): Show |
AGTR1 | ENSG00000144891.19 | transcript | ENST00000349243.8 | protein_coding | 2771 | chr3 | TogoVar | |||||||
AGTRAP_chr1_11731136_11755769 | 11747628 | A | ATCCCAAT others(8): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0127 | 1 | 418 | 0.0024 | 15 | c.168 others(29): Show |
AGTRAP | ENSG00000177674.16 | transcript | ENST00000314340.10 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246834474 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG02572.hp2 others(4): Show |
a0003a0005a0025 | a0003c0003a0005c0006a0025c0022 | a0003c0003t0001a0005c0006t0001a0025c0022t0001 | a0003c0003t0001g0184 a0003c0003t0001g0191 a0003c0003t0001g0224 others(4): Show |
7 | 91 | 0.0769 | 15 | c.*63 others(26): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4623 | chr1 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246909110 | T | TCTATCTA others(8): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0010 | a0010c0034 | a0010c0034t0002 | a0010c0034t0002g0164 | 1 | 374 | 0.0027 | 15 | c.557 others(32): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4/35 | chr1 | TogoVar | |||||||
AHCYL2_chr7_129220030_129435211 | 129299369 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 11 | 0.0909 | 15 | c.363 others(34): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129403860 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 70 | 0.0143 | 15 | c.102 others(32): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129403902 | C | GTATGAGG others(8): Show |
intron_variant | MODIFIER | HG01123.hp2 HG02273.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0033 a0001c0001t0011g0290 a0001c0001t0011g0291 |
3 | 290 | 0.0103 | 15 | c.102 others(28): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 7/16 | chr7 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135294323 | C | CACAAAAC others(8): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0013 | a0001c0013t0007 | a0001c0013t0007g0168 | 1 | 218 | 0.0046 | 15 | c.348 others(34): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 27/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135482894 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00609.hp1 others(35): Show |
a0001a0008a0010others(1): Show | a0001c0001a0001c0006a0008c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0007 a0001c0001t0001g0116 a0001c0001t0001g0127 others(35): Show |
38 | 78 | 0.4872 | 15 | c.135 others(32): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 343728 | A | AGGGGTCC others(8): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 266 | 0.0038 | 15 | c.-10 others(30): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 397618 | T | TCCACGTA others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00738.hp2 HG00741.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0029a0001c0001t0056a0002c0002t0006others(5): Show | a0001c0001t0029g0012 a0001c0001t0056g0175 a0002c0002t0006g0007 others(13): Show |
18 | 266 | 0.0677 | 15 | c.352 others(34): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 441497 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG01517.hp2 HG04204.hp1 |
a0002a0009 | a0002c0002a0009c0020 | a0002c0002t0001a0009c0020t0001 | a0002c0002t0001g0010 a0009c0020t0001g0170 |
2 | 14 | 0.1429 | 15 | c.*66 others(26): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3213 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 443223 | C | CGGAGGGG others(8): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 266 | 0.0038 | 15 | c.*83 others(26): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 4939 | chr5 | TogoVar | |||||||
AHR_chr7_17293652_17351147 | 17298578 | T | TCGGGGCG others(8): Show |
upstream_gene_variant | MODIFIER | NA19055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 368 | 0.0027 | 15 | c.-68 others(24): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 73 | chr7 | TogoVar | |||||||
AHR_chr7_17293652_17351147 | 17298580 | T | TGGGCGGG others(8): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(112): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0003 a0001c0001t0001g0017 a0001c0001t0001g0018 others(75): Show |
115 | 121 | 0.9504 | 15 | c.-68 others(24): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 71 | chr7 | TogoVar | |||||||
AHSA1_chr14_77453093_77474472 | 77468721 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0083 | 1 | 50 | 0.0200 | 15 | c.844 others(30): Show |
AHSA1 | ENSG00000100591.8 | transcript | ENST00000216479.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AIF1_chr6_31610234_31622015 | 31620209 | C | CCCTCCGG others(8): Show |
downstream_gene_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 436 | 0.0023 | 15 | c.*33 others(26): Show |
AIF1 | ENSG00000204472.13 | transcript | ENST00000376059.8 | protein_coding | 3195 | chr6 | TogoVar | |||||||
AIFM1_chrX_130124362_130170841 | 130150977 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0072 | 1 | 125 | 0.0080 | 15 | c.250 others(32): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 2/15 | chrX | TogoVar | |||||||
AIG1_chr6_143055889_143346058 | 143143524 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0044 | 1 | 191 | 0.0052 | 15 | c.297 others(32): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | chr6 | TogoVar | |||||||
AIG1_chr6_143055889_143346058 | 143143526 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0009 | 1 | 169 | 0.0059 | 15 | c.297 others(32): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | chr6 | TogoVar | |||||||
AIG1_chr6_143055889_143346058 | 143143528 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0014 | 1 | 66 | 0.0152 | 15 | c.297 others(32): 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(8): Show |
intron_variant | MODIFIER | NA18612.hp1 NA18954.hp2 NA18984.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0095 a0001c0002t0002g0006 a0001c0002t0002g0027 |
3 | 68 | 0.0441 | 15 | c.297 others(32): 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(8): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0143 a0001c0001t0003g0118 |
2 | 67 | 0.0299 | 15 | c.297 others(32): Show |
AIG1 | ENSG00000146416.19 | transcript | ENST00000357847.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18957.hp2 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 a0001c0001t0001g0123 |
2 | 48 | 0.0417 | 15 | c.135 others(30): 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(8): Show |
intron_variant | MODIFIER | NA18947.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 47 | 0.0213 | 15 | c.135 others(30): 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(8): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 47 | 0.0213 | 15 | c.135 others(30): 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(8): Show |
intron_variant | MODIFIER | HG03688.hp1 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 a0001c0001t0001g0231 |
2 | 48 | 0.0417 | 15 | c.135 others(30): 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(8): Show |
intron_variant | MODIFIER | HG02129.hp1 HG02165.hp1 NA18992.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0250 a0001c0001t0001g0251 a0001c0001t0002g0341 others(1): Show |
4 | 50 | 0.0800 | 15 | c.135 others(30): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6421853 | A | AAAAAGAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG01993.hp1 HG02083.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0008a0001c0002t0001others(2): Show | a0001c0001t0002g0026 a0001c0001t0002g0049 a0001c0001t0002g0053 others(8): Show |
13 | 283 | 0.0459 | 15 | c.*35 others(26): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1884 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6423531 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | NA19089.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0131 | 1 | 396 | 0.0025 | 15 | c.*19 others(26): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 206 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6431210 | C | CCTGAATC others(8): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0151 | 1 | 452 | 0.0022 | 15 | c.277 others(32): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 2/5 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6436026 | A | ATCCCCTC others(8): Show |
upstream_gene_variant | MODIFIER | NA19088.hp1 | a0001 | a0001c0002 | a0001c0002t0046 | a0001c0002t0046g0168 | 1 | 335 | 0.0030 | 15 | c.-92 others(24): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 906 | chr17 | TogoVar | |||||||
AIRE_chr21_44280876_44303648 | 44303441 | A | AAAAAAGA others(8): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0002 | a0002c0015 | a0002c0015t0003 | a0002c0015t0003g0205 | 1 | 292 | 0.0034 | 15 | c.*57 others(26): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 4794 | chr21 | TogoVar | |||||||
AJAP1_chr1_4649609_4797534 | 4651882 | C | CAATAATA others(8): Show |
upstream_gene_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0011 | a0002c0011t0064 | a0002c0011t0064g0308 | 1 | 86 | 0.0116 | 15 | c.-35 others(26): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2726 | chr1 | TogoVar | |||||||
AJAP1_chr1_4649609_4797534 | 4682832 | T | TTGGTGGT others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02280.hp1 HG02572.hp2 others(5): Show |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0082a0001c0002t0135a0001c0002t0147others(5): Show | a0001c0002t0082g0238 a0001c0002t0135g0020 a0001c0002t0147g0327 others(5): Show |
8 | 332 | 0.0241 | 15 | c.29+ others(32): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AK3_chr9_4704556_4746202 | 4714081 | C | CACACCTC others(8): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0255 | 1 | 375 | 0.0027 | 15 | c.564 others(30): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 4/4 | chr9 | TogoVar |