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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKT3_chr1_243494724_243855243 | 243686652 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG01496.hp1 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0039 | a0001c0001t0001g0144a0001c0001t0039g0270 | 2 | 301 | 0.0066 | 15 | c.172 others(32): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243815776 | A | AGTTGTTG others(8): Show |
intron_variant | MODIFIER | HG02015.hp2 HG02976.hp1 HG03942.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0213a0001c0001t0002g0194a0001c0001t0006g0183others(1): Show | 4 | 301 | 0.0133 | 15 | c.46+ others(32): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
AKTIP_chr16_53486040_53508209 | 53494939 | G | GAAGTCCC others(8): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 386 | 0.0026 | 15 | c.414 others(30): Show |
AKTIP | ENSG00000166971.17 | transcript | ENST00000394657.12 | protein_coding | 5/9 | chr16 | TogoVar | ||||||
AKTIP_chr16_53486040_53508209 | 53503268 | T | TGCCCCAC others(8): Show |
upstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 386 | 0.0026 | 15 | c.-19 others(24): Show |
AKTIP | ENSG00000166971.17 | transcript | ENST00000394657.12 | protein_coding | 60 | chr16 | TogoVar | ||||||
ALAD_chr9_113381312_113406284 | 113381760 | C | CTTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG02451.hp2 HG02895.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0070a0001c0001t0002g0086others(2): Show | 5 | 446 | 0.0112 | 15 | c.*65 others(26): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 4551 | chr9 | TogoVar | ||||||
ALAS1_chr3_52193160_52219327 | 52194038 | A | AGAAAGAA others(8): Show |
upstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 354 | 0.0028 | 15 | c.-44 others(26): Show |
ALAS1 | ENSG00000023330.15 | transcript | ENST00000484952.6 | protein_coding | 4121 | chr3 | TogoVar | ||||||
ALAS2_chrX_55004055_55035977 | 55029181 | T | TCAACAAC others(8): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 284 | 0.0035 | 15 | c.-16 others(32): Show |
ALAS2 | ENSG00000158578.21 | transcript | ENST00000650242.1 | protein_coding | 1/10 | chrX | TogoVar | ||||||
ALCAM_chr3_105361909_105581900 | 105368264 | A | AGAGAGAG others(8): Show |
intron_variant | MODIFIER | HG03579.hp2 NA20805.hp2 |
a0001a0004 | a0001c0002a0004c0007 | a0001c0002t0003a0004c0007t0001 | a0001c0002t0003g0214a0004c0007t0001g0215 | 2 | 378 | 0.0053 | 15 | c.73+ others(28): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
ALCAM_chr3_105361909_105581900 | 105454653 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG04199.hp1 HG04228.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0003t0002 | a0001c0002t0003g0094a0001c0003t0002g0075 | 2 | 378 | 0.0053 | 15 | c.74- others(32): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALCAM_chr3_105361909_105581900 | 105563667 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00738.hp2 HG01256.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0008 | a0001c0002t0001g0066a0001c0002t0003g0028a0001c0002t0003g0129others(4): Show | 7 | 378 | 0.0185 | 15 | c.166 others(34): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALDH1L2_chr12_105014790_105089458 | 105071642 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 386 | 0.0026 | 15 | c.194 others(30): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 2/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105071643 | T | TATATATA others(8): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0133 | 1 | 386 | 0.0026 | 15 | c.194 others(30): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 2/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105088569 | A | AAACAACA others(8): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG03041.hp1 HG03471.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0001g0226a0001c0001t0005g0318a0001c0001t0006g0217others(2): Show | 5 | 386 | 0.0130 | 15 | c.-41 others(26): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 4112 | chr12 | TogoVar | ||||||
ALDH3B1_chr11_68005327_68034276 | 68030111 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | NA18612.hp1 NA19081.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0005a0001c0002t0003g0072 | 2 | 374 | 0.0054 | 15 | c.*21 others(26): Show |
ALDH3B1 | ENSG00000006534.17 | transcript | ENST00000342456.11 | protein_coding | 836 | chr11 | TogoVar | ||||||
ALDH3B1_chr11_68005327_68034276 | 68030889 | A | AGCCGGCC others(8): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(89): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0002a0001c0001t0015a0001c0003t0002others(10): Show | a0001c0001t0002g0036a0001c0001t0002g0037a0001c0001t0002g0056others(33): Show | 92 | 374 | 0.2460 | 15 | c.*29 others(26): Show |
ALDH3B1 | ENSG00000006534.17 | transcript | ENST00000342456.11 | protein_coding | 1614 | chr11 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24500647 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 368 | 0.0027 | 15 | c.355 others(32): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH5A1_chr6_24489969_24542207 | 24506243 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 368 | 0.0027 | 15 | c.726 others(32): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH5A1_chr6_24489969_24542207 | 24508361 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01496.hp1 HG02602.hp2 others(12): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0005a0002c0002t0020a0003c0003t0001others(1): Show | a0002c0002t0005g0063a0002c0002t0005g0064a0002c0002t0005g0067others(12): Show | 15 | 368 | 0.0408 | 15 | c.726 others(32): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALDH7A1_chr5_126536841_126600219 | 126571150 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0004 | a0001c0004t0006 | a0001c0004t0006g0127 | 1 | 380 | 0.0026 | 15 | c.696 others(30): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 7/17 | chr5 | TogoVar | ||||||
ALG10B_chr12_38311774_38334721 | 38313652 | A | ACTGTAAT others(8): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(433): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(86): Show | a0001c0001t0001g0001a0001c0001t0004g0002a0001c0001t0005g0002others(95): Show | 436 | 452 | 0.9646 | 15 | c.-32 others(26): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 3121 | chr12 | TogoVar | ||||||
ALG10B_chr12_38311774_38334721 | 38333798 | T | TGTGTGTG others(8): Show |
downstream_gene_variant | MODIFIER | NA19009.hp2 NA19090.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0008a0001c0003t0045 | a0001c0002t0008g0003a0001c0003t0045g0004 | 2 | 452 | 0.0044 | 15 | c.*12 others(28): Show |
ALG10B | ENSG00000175548.9 | transcript | ENST00000308742.9 | protein_coding | 4078 | chr12 | TogoVar | ||||||
ALG10_chr12_34017496_34033302 | 34029736 | A | ATTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 | 2 | 332 | 0.0060 | 15 | c.*28 others(26): Show |
ALG10 | ENSG00000139133.7 | transcript | ENST00000266483.7 | protein_coding | 1435 | chr12 | TogoVar | ||||||
ALG12_chr22_49895229_49923438 | 49923336 | T | TCTGCACC others(8): Show |
upstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0071 | 1 | 348 | 0.0029 | 15 | c.-51 others(26): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 4899 | chr22 | TogoVar | ||||||
ALG14_chr1_94969405_95077951 | 95046973 | A | AAACATAA others(8): Show |
intron_variant | MODIFIER | HG02698.hp1 NA18942.hp1 NA18970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0356a0001c0001t0002g0227a0001c0001t0002g0228others(3): Show | 6 | 388 | 0.0155 | 15 | c.288 others(34): Show |
ALG14 | ENSG00000172339.10 | transcript | ENST00000370205.6 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
ALG1L2_chr3_130076831_130103390 | 130080282 | C | CTTTTTTT others(8): Show |
upstream_gene_variant | MODIFIER | NA18979.hp1 NA18999.hp2 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0024 | 3 | 261 | 0.0115 | 15 | c.-17 others(26): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1548 | chr3 | TogoVar | ||||||
ALG1_chr16_5066843_5092379 | 5068700 | A | AAAATAAA others(8): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG01255.hp1 HG01257.hp1 others(41): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0004 | a0001c0002t0002a0002c0003t0004a0003c0004t0002others(3): Show | a0001c0002t0002g0002a0002c0003t0004g0003a0003c0004t0002g0002others(13): Show | 44 | 444 | 0.0991 | 15 | c.-31 others(26): Show |
ALG1 | ENSG00000033011.14 | transcript | ENST00000262374.10 | protein_coding | 3142 | chr16 | TogoVar | ||||||
ALG1_chr16_5066843_5092379 | 5087881 | A | AAGTGAAA others(8): Show |
downstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0054 | 1 | 444 | 0.0023 | 15 | c.*30 others(26): Show |
ALG1 | ENSG00000033011.14 | transcript | ENST00000262374.10 | protein_coding | 503 | chr16 | TogoVar | ||||||
ALG8_chr11_78095946_78144626 | 78143317 | A | ACACACAC others(8): Show |
upstream_gene_variant | MODIFIER | HG02148.hp2 NA18956.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0263a0001c0001t0001g0329 | 2 | 402 | 0.0050 | 15 | c.-37 others(26): Show |
ALG8 | ENSG00000159063.14 | transcript | ENST00000299626.10 | protein_coding | 3692 | chr11 | TogoVar | ||||||
ALG9_chr11_111777195_111876581 | 111826066 | C | CAATAATA others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01952.hp1 HG02109.hp2 others(40): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0287a0001c0001t0001g0291a0001c0001t0001g0294others(40): Show | 43 | 314 | 0.1369 | 15 | c.160 others(36): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 13/14 | chr11 | TogoVar | ||||||
ALG9_chr11_111777195_111876581 | 111850706 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG06807.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0006a0003c0003t0001 | a0001c0001t0006g0142a0003c0003t0001g0123a0003c0003t0001g0124others(1): Show | 4 | 314 | 0.0127 | 15 | c.895 others(32): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 8/14 | chr11 | TogoVar | ||||||
ALKBH5_chr17_18178828_18214954 | 18201786 | G | GATAGATA others(8): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01981.hp1 NA18960.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0018 | a0001c0001t0002g0037a0001c0001t0002g0169a0001c0001t0002g0170others(1): Show | 4 | 418 | 0.0096 | 15 | c.852 others(32): Show |
ALKBH5 | ENSG00000091542.9 | transcript | ENST00000399138.5 | protein_coding | 2/3 | chr17 | TogoVar | ||||||
ALKBH7_chr19_6367794_6380250 | 6378666 | G | GCGACATT others(8): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 372 | 0.0027 | 15 | c.*36 others(26): Show |
ALKBH7 | ENSG00000125652.8 | transcript | ENST00000245812.8 | protein_coding | 3417 | chr19 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29203485 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0039 | a0001c0039t0013 | a0001c0039t0013g0079 | 1 | 80 | 0.0125 | 15 | c.393 others(34): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 26/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29211774 | G | GAAAAGAT others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00738.hp1 others(19): Show |
a0001a0002a0006others(1): Show | a0001c0006a0001c0016a0001c0017others(16): Show | a0001c0006t0007a0001c0016t0007a0001c0017t0001others(16): Show | a0001c0006t0007g0056a0001c0016t0007g0004a0001c0017t0001g0012others(19): Show | 22 | 80 | 0.2750 | 15 | c.374 others(34): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 24/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29232035 | G | GCAAGTTG others(8): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(36): Show |
a0001a0002a0003others(2): Show | a0001c0004a0001c0016a0001c0017others(26): Show | a0001c0004t0001a0001c0004t0008a0001c0016t0007others(27): Show | a0001c0004t0001g0021a0001c0004t0001g0037a0001c0004t0008g0003others(36): Show | 39 | 80 | 0.4875 | 15 | c.263 others(32): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 15/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29288951 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02145.hp1 |
a0001a0002 | a0001c0053a0002c0001 | a0001c0053t0001a0002c0001t0001 | a0001c0053t0001g0070a0002c0001t0001g0061 | 2 | 80 | 0.0250 | 15 | c.181 others(34): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 9/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29637709 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02145.hp2 others(2): Show |
a0001a0003a0005 | a0001c0020a0001c0022a0003c0010others(1): Show | a0001c0020t0005a0001c0022t0001a0003c0010t0006others(1): Show | a0001c0020t0005g0005a0001c0022t0001g0007a0003c0010t0006g0001others(2): Show | 5 | 80 | 0.0625 | 15 | c.952 others(34): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29677235 | T | TCTCCCCT others(8): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0054 | 1 | 80 | 0.0125 | 15 | c.952 others(34): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 3/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29802409 | G | GAGGGAAG others(8): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0049 | 1 | 80 | 0.0125 | 15 | c.668 others(34): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29802409 | G | GAGGGGAG others(8): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01884.hp2 HG01891.hp1 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0009a0001c0016a0001c0027others(9): Show | a0001c0009t0005a0001c0016t0007a0001c0027t0001others(9): Show | a0001c0009t0005g0054a0001c0016t0007g0004a0001c0027t0001g0013others(9): Show | 12 | 80 | 0.1500 | 15 | c.668 others(34): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29831118 | A | AGAAGGGG others(8): Show |
intron_variant | MODIFIER | HG03225.hp2 NA19240.hp2 |
a0004a0005 | a0004c0002a0005c0046 | a0004c0002t0003a0005c0046t0004 | a0004c0002t0003g0025a0005c0046t0004g0053 | 2 | 80 | 0.0250 | 15 | c.667 others(34): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29831259 | G | GGAAGAGG others(8): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0056 | 1 | 80 | 0.0125 | 15 | c.667 others(34): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29876294 | G | GTGGTGAT others(8): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02055.hp2 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0023a0001c0025a0001c0027others(5): Show | a0001c0023t0010a0001c0025t0011a0001c0027t0001others(5): Show | a0001c0023t0010g0076a0001c0025t0011g0074a0001c0027t0001g0013others(5): Show | 8 | 80 | 0.1000 | 15 | c.667 others(34): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3690443 | T | TCCCCCCC others(8): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0233 | 1 | 274 | 0.0037 | 15 | c.512 others(32): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73517246 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01175.hp1 HG01261.hp2 others(23): Show |
a0002a0004a0005others(8): Show | a0002c0004a0004c0003a0005c0005others(9): Show | a0002c0004t0001a0004c0003t0002a0005c0005t0001others(9): Show | a0002c0004t0001g0005a0002c0004t0001g0038a0004c0003t0002g0068others(23): Show | 26 | 248 | 0.1048 | 15 | c.954 others(34): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 10/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALMS1_chr2_73380836_73614916 | 73579063 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18989.hp1 NA19000.hp1 NA19240.hp2 others(1): Show |
a0003a0021a0043 | a0003c0002a0021c0029a0043c0062 | a0003c0002t0001a0021c0029t0001a0043c0062t0001 | a0003c0002t0001g0023a0003c0002t0001g0028a0021c0029t0001g0119others(1): Show | 4 | 248 | 0.0161 | 15 | c.115 others(36): Show |
ALMS1 | ENSG00000116127.20 | transcript | ENST00000613296.6 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALOX12_chr17_6991049_7015754 | 7006059 | C | CGGGGGGG others(8): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0070 | 1 | 404 | 0.0025 | 15 | c.141 others(30): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 10/13 | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8040652 | A | AAAGAAAG others(8): Show |
intron_variant | MODIFIER | NA18940.hp2 NA18973.hp2 NA18977.hp1 |
a0001a0004 | a0001c0005a0004c0006 | a0001c0005t0004a0004c0006t0003 | a0001c0005t0004g0043a0004c0006t0003g0231 | 3 | 470 | 0.0064 | 15 | c.449 others(30): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8050306 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG01192.hp1 HG02258.hp2 others(4): Show |
a0001a0003a0006 | a0001c0001a0003c0004a0006c0011 | a0001c0001t0001a0003c0004t0001a0003c0004t0002others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0247a0003c0004t0001g0166others(4): Show | 7 | 470 | 0.0149 | 15 | c.*17 others(26): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 1173 | chr17 | TogoVar | ||||||
ALOX15B_chr17_8034059_8054134 | 8052737 | T | TAGATAGA others(8): Show |
downstream_gene_variant | MODIFIER | HG03942.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0061 | 1 | 470 | 0.0021 | 15 | c.*41 others(26): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 3604 | chr17 | TogoVar |