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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GABPB1_chr15_50270389_50360198 | 50300429 | GTTTTTGG others(8): Show |
G | intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0271 | 1 | 366 | 0.0027 | -15 | c.697 others(30): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 6/8 | chr15 | TogoVar | ||||||
GABPB1_chr15_50270389_50360198 | 50337114 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02698.hp2 NA18968.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0133a0001c0001t0001g0240others(1): Show | 4 | 366 | 0.0109 | -15 | c.-1+ others(32): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 1/8 | chr15 | TogoVar | ||||||
GABPB2_chr1_151065761_151130542 | 151110005 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG01516.hp2 HG06807.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0022 | a0001c0001t0002g0245a0002c0002t0022g0261 | 2 | 264 | 0.0076 | -15 | c.922 others(32): Show |
GABPB2 | ENSG00000143458.12 | transcript | ENST00000368918.8 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GABPB2_chr1_151065761_151130542 | 151123855 | AAAAATAA others(8): Show |
A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00323.hp1 others(150): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0006a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(45): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(150): Show | 153 | 264 | 0.5796 | -15 | c.*56 others(26): Show |
GABPB2 | ENSG00000143458.12 | transcript | ENST00000368918.8 | protein_coding | 9/9 | 5617 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
GABRA2_chr4_46238548_46395128 | 46389990 | CGGAGGAG others(8): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG02723.hp1 HG02886.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0041a0001c0002t0071a0001c0002t0072others(1): Show | a0001c0002t0041g0002a0001c0002t0071g0045a0001c0002t0072g0044others(1): Show | 4 | 258 | 0.0155 | -15 | c.-28 others(24): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 1/10 | 1285 | chr4 | TogoVar | |||||
GABRA3_chrX_152161234_152456315 | 152212317 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0066a0001c0001t0006g0094 | 2 | 204 | 0.0098 | -15 | c.635 others(32): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 6/9 | chrX | TogoVar | ||||||
GABRA3_chrX_152161234_152456315 | 152275187 | TTATATAT others(8): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0073a0001c0001t0002g0074 | 2 | 204 | 0.0098 | -15 | c.330 others(32): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 4/9 | chrX | TogoVar | ||||||
GABRA3_chrX_152161234_152456315 | 152360736 | AATTAAAA others(8): Show |
A | intron_variant | MODIFIER | HG03098.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114a0001c0001t0001g0192 | 2 | 204 | 0.0098 | -15 | c.140 others(32): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 2/9 | chrX | TogoVar | ||||||
GABRA3_chrX_152161234_152456315 | 152404732 | TTTATTAT others(8): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02056.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0143a0001c0001t0001g0168a0001c0001t0001g0181others(11): Show | 14 | 204 | 0.0686 | -15 | c.-26 others(34): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 1/9 | chrX | TogoVar | ||||||
GABRA4_chr4_46913900_46998581 | 46925745 | TATTATTA others(8): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01516.hp1 | a0002 | a0002c0002 | a0002c0002t0068 | a0002c0002t0068g0110 | 1 | 370 | 0.0027 | -15 | c.*24 others(26): Show |
GABRA4 | ENSG00000109158.11 | transcript | ENST00000264318.4 | protein_coding | 9/9 | 2465 | chr4 | TogoVar | |||||
GABRB1_chr4_47026567_47431447 | 47045442 | TATCATCA others(8): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0043 | 1 | 158 | 0.0063 | -15 | c.240 others(34): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABRB1_chr4_47026567_47431447 | 47123896 | ATAATATA others(8): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00642.hp2 HG00735.hp2 others(13): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(6): Show | a0001c0001t0001g0030a0001c0001t0001g0045a0001c0001t0001g0047others(13): Show | 16 | 158 | 0.1013 | -15 | c.241 others(34): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABRB1_chr4_47026567_47431447 | 47132392 | TTTTGGTT others(8): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG03041.hp1 HG03579.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004a0001c0005others(1): Show | a0001c0002t0003a0001c0004t0003a0001c0005t0003others(1): Show | a0001c0002t0003g0071a0001c0004t0003g0043a0001c0005t0003g0130others(1): Show | 4 | 158 | 0.0253 | -15 | c.241 others(34): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABRB1_chr4_47026567_47431447 | 47401825 | TATCTATC others(8): Show |
T | intron_variant | MODIFIER | HG02738.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0004 | a0001c0001t0002g0145a0001c0002t0004g0083 | 2 | 158 | 0.0127 | -15 | c.545 others(32): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABRB1_chr4_47026567_47431447 | 47425477 | TGATGATA others(8): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0043 | 1 | 158 | 0.0063 | -15 | c.108 others(32): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABRB2_chr5_161283436_161551725 | 161393299 | TAAAAAAA others(8): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG01943.hp1 |
a0001 | a0001c0003 | a0001c0003t0021 | a0001c0003t0021g0147a0001c0003t0021g0150 | 2 | 266 | 0.0075 | -15 | c.541 others(34): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 5/9 | chr5 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26764172 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0042 | 1 | 204 | 0.0049 | -15 | c.240 others(32): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26764176 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0027 | 1 | 204 | 0.0049 | -15 | c.240 others(32): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26764178 | AAATATAT others(8): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0012 | 1 | 204 | 0.0049 | -15 | c.240 others(32): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26764180 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0145 | 1 | 204 | 0.0049 | -15 | c.240 others(32): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRG1_chr4_46030769_46129054 | 46056150 | TTAAAAAA others(8): Show |
T | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0294 | 1 | 308 | 0.0033 | -15 | c.916 others(32): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 7/8 | chr4 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 26974843 | TTTATTAT others(8): Show |
T | intron_variant | MODIFIER | HG01496.hp1 HG01884.hp2 HG02258.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0073a0001c0001t0004g0007a0001c0002t0001g0009others(2): Show | 5 | 92 | 0.0544 | -15 | c.54- others(30): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 26978703 | AATACCCA others(8): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG02109.hp1 HG02698.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0034a0001c0002t0001others(3): Show | a0001c0001t0001g0033a0001c0001t0001g0044a0001c0001t0001g0084others(9): Show | 12 | 92 | 0.1304 | -15 | c.202 others(32): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRR3_chr3_97980102_98040315 | 98032063 | CATAGTAT others(8): Show |
C | intron_variant | MODIFIER | HG01981.hp2 HG02027.hp2 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0002g0156a0001c0001t0003g0155a0001c0001t0004g0197others(1): Show | 4 | 382 | 0.0105 | -15 | c.125 others(32): Show |
GABRR3 | ENSG00000183185.10 | transcript | ENST00000472788.6 | protein_coding | 2/9 | chr3 | TogoVar | ||||||
GAD1_chr2_170811887_170866151 | 170828090 | CCTCCTCC others(8): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02132.hp2 HG02451.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0006a0002c0003t0001 | a0001c0001t0003g0291a0001c0001t0006g0256a0001c0001t0006g0257others(3): Show | 6 | 412 | 0.0146 | -15 | c.146 others(32): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 3/16 | chr2 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30816530 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01981.hp2 HG02056.hp1 HG02280.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0096a0001c0001t0001g0182a0001c0001t0001g0242others(7): Show | 10 | 282 | 0.0355 | -15 | c.105 others(36): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 11/14 | chr3 | TogoVar | ||||||
GAGE10_chrX_49298646_49324841 | 49300477 | GTTTTTTT others(8): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(107): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0003c0003t0003 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0006others(38): Show | 110 | 302 | 0.3642 | -15 | c.-32 others(26): Show |
GAGE10 | ENSG00000215274.6 | transcript | ENST00000407599.4 | protein_coding | 3168 | chrX | TogoVar | ||||||
GAGE12H_chrX_49574949_49592301 | 49586009 | TTTATTTA others(8): Show |
T | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0079 | 1 | 116 | 0.0086 | -15 | c.332 others(32): Show |
GAGE12H | ENSG00000224902.6 | transcript | ENST00000381722.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GAGE1_chrX_49594020_49613538 | 49611720 | CTTTTATT others(8): Show |
C | downstream_gene_variant | MODIFIER | NA18978.hp2 NA18988.hp1 NA19010.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0112 | 4 | 311 | 0.0129 | -15 | c.*57 others(26): Show |
GAGE1 | ENSG00000205777.19 | transcript | ENST00000381700.11 | protein_coding | 3183 | chrX | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49277137 | ATTTTTTT others(8): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0257a0001c0001t0001g0325a0001c0001t0001g0330others(18): Show | 21 | 348 | 0.0603 | -15 | c.505 others(32): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49321224 | TAAATGAG others(8): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00673.hp1 others(62): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(10): Show | a0001c0001t0002g0043a0001c0001t0002g0046a0001c0001t0002g0047others(62): Show | 65 | 348 | 0.1868 | -15 | c.116 others(34): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38665483 | ATTTTTTT others(8): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02630.hp1 HG02895.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0015 | a0001c0001t0001g0318a0001c0001t0002g0312a0001c0001t0002g0314others(3): Show | 6 | 328 | 0.0183 | -15 | c.-67 others(24): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 630 | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38675540 | TTTTTGTG others(8): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 328 | 0.0031 | -15 | c.191 others(30): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38675542 | TTTGTGTG others(8): Show |
T | intron_variant | MODIFIER | HG01952.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0259 | 1 | 328 | 0.0031 | -15 | c.191 others(30): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38675544 | TGTGTGTG others(8): Show |
T | intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0209 | 1 | 328 | 0.0031 | -15 | c.191 others(30): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 1/6 | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38703080 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029 | 1 | 328 | 0.0031 | -15 | c.634 others(34): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38703084 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG01192.hp1 HG01258.hp2 HG01516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0010a0001c0001t0002g0046a0001c0001t0002g0047others(1): Show | 4 | 328 | 0.0122 | -15 | c.634 others(34): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38703086 | ATATATAT others(8): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp2 HG01167.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0027 | a0001c0001t0002g0021a0001c0001t0002g0023a0001c0001t0002g0030others(4): Show | 7 | 328 | 0.0213 | -15 | c.634 others(34): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38708107 | AAAATTAA others(8): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG06807.hp2 |
a0002 | a0002c0002 | a0002c0002t0014a0002c0002t0018 | a0002c0002t0014g0152a0002c0002t0014g0153a0002c0002t0018g0008 | 3 | 328 | 0.0092 | -15 | c.634 others(34): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNS_chr16_88808734_88861947 | 88825221 | TGGGTGTC others(8): Show |
T | intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 404 | 0.0025 | -15 | c.114 others(32): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 10/13 | chr16 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154187470 | CTATTCAT others(8): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02280.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0021a0001c0002t0001a0001c0002t0045others(3): Show | a0001c0001t0021g0131a0001c0002t0001g0061a0001c0002t0045g0150others(3): Show | 6 | 236 | 0.0254 | -15 | c.-33 others(26): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 3262 | chr5 | TogoVar | ||||||
GALNT11_chr7_152020674_152127340 | 152113712 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01109.hp1 HG02074.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0127a0001c0001t0001g0253a0001c0001t0002g0180others(2): Show | 5 | 284 | 0.0176 | -15 | c.123 others(32): Show |
GALNT11 | ENSG00000178234.13 | transcript | ENST00000430044.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154043415 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG01081.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0062a0001c0001t0001g0063a0001c0001t0002g0106others(20): Show | 23 | 214 | 0.1075 | -15 | c.143 others(34): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154104863 | ACTGCCTC others(8): Show |
A | intron_variant | MODIFIER | HG01169.hp1 HG02451.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0072a0001c0001t0073 | a0001c0001t0013g0151a0001c0001t0072g0080a0001c0001t0073g0081 | 3 | 214 | 0.0140 | -15 | c.143 others(34): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154270681 | ATTAGTAA others(8): Show |
A | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0085 | 1 | 214 | 0.0047 | -15 | c.975 others(34): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154351682 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01175.hp2 HG02738.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0002g0146a0001c0001t0005g0101a0001c0001t0006g0134others(3): Show | 6 | 214 | 0.0280 | -15 | c.115 others(36): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154354405 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00642.hp1 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(38): Show | a0001c0001t0001g0008a0001c0001t0001g0023a0001c0001t0001g0047others(65): Show | 68 | 214 | 0.3178 | -15 | c.115 others(36): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154364642 | GTTGTTTT others(8): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(36): Show | a0001c0001t0001g0041a0001c0001t0001g0053a0001c0001t0003g0004others(77): Show | 80 | 214 | 0.3738 | -15 | c.115 others(36): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT14_chr2_30905467_31143440 | 30912810 | CAGAGCAC others(8): Show |
C | intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0030 | 1 | 226 | 0.0044 | -15 | c.138 others(32): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 13/14 | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 31038082 | ATATTTTT others(8): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG02886.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0022a0001c0001t0005g0187a0001c0001t0005g0190 | 3 | 226 | 0.0133 | -15 | c.130 others(34): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar |