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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GABPB2_chr1_151065761_151130542 | 151125770 | TTTTTTTG others(2): Show |
T | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp2 HG02451.hp2 others(4): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0009a0004c0004t0009a0004c0004t0089 | a0001c0001t0009g0096 a0004c0004t0009g0098 a0004c0004t0009g0099 others(4): Show |
7 | 262 | 0.0267 | -9 | c.*75 others(20): Show |
GABPB2 | ENSG00000143458.12 | transcript | ENST00000368918.8 | protein_coding | 229 | chr1 | TogoVar | |||||||
GABRA1_chr5_161843120_161904971 | 161893006 | AAAAAATA others(2): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00738.hp2 others(47): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(37): Show |
50 | 348 | 0.1437 | -9 | c.856 others(26): Show |
GABRA1 | ENSG00000022355.18 | transcript | ENST00000393943.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GABRA1_chr5_161843120_161904971 | 161893009 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00673.hp2 others(68): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0205 a0001c0001t0003g0019 a0001c0001t0003g0039 others(58): Show |
71 | 195 | 0.3641 | -9 | c.856 others(26): Show |
GABRA1 | ENSG00000022355.18 | transcript | ENST00000393943.10 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GABRA2_chr4_46238548_46395128 | 46389801 | GGGAGAGA others(2): Show |
G | 5_prime_UTR_variant | MODIFIER | HG02055.hp2 HG03195.hp2 HG03239.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0003g0139 a0001c0001t0006g0156 a0001c0001t0007g0079 others(4): Show |
7 | 246 | 0.0285 | -9 | c.-86 others(16): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 1/10 | 1096 | chr4 | TogoVar | ||||||
GABRA3_chrX_152161234_152456315 | 152212323 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG02155.hp2 HG02735.hp1 HG03041.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0001g0033 others(6): Show |
9 | 202 | 0.0446 | -9 | c.635 others(26): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 6/9 | chrX | TogoVar | |||||||
GABRA3_chrX_152161234_152456315 | 152404732 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02965.hp1 HG03041.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0008 others(9): Show |
12 | 23 | 0.5217 | -9 | c.-26 others(28): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 1/9 | chrX | TogoVar | |||||||
GABRA4_chr4_46913900_46998581 | 46925751 | TATTATTA others(2): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00544.hp2 others(51): Show |
a0001a0002a0005 | a0001c0001a0001c0008a0001c0010others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0184 a0001c0001t0003g0002 a0001c0001t0003g0020 others(46): Show |
54 | 368 | 0.1467 | -9 | c.*24 others(20): Show |
GABRA4 | ENSG00000109158.11 | transcript | ENST00000264318.4 | protein_coding | 9/9 | 2465 | chr4 | TogoVar | ||||||
GABRA4_chr4_46913900_46998581 | 46926074 | AAACAACA others(2): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02040.hp2 HG02074.hp2 NA19004.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0020 | a0001c0001t0016g0135 a0001c0001t0016g0136 a0001c0001t0020g0150 others(1): Show |
4 | 146 | 0.0274 | -9 | c.*21 others(20): Show |
GABRA4 | ENSG00000109158.11 | transcript | ENST00000264318.4 | protein_coding | 9/9 | 2142 | chr4 | TogoVar | ||||||
GABRB1_chr4_47026567_47431447 | 47045442 | TATCATCA others(2): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00642.hp1 others(69): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0020 a0001c0001t0001g0024 a0001c0001t0001g0026 others(69): Show |
72 | 85 | 0.8471 | -9 | c.240 others(28): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GABRB1_chr4_47026567_47431447 | 47077948 | ATTATATA others(2): Show |
A | intron_variant | MODIFIER | HG02027.hp1 HG02040.hp1 HG02056.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0020 a0001c0001t0001g0026 a0001c0001t0001g0030 others(13): Show |
16 | 156 | 0.1026 | -9 | c.240 others(28): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GABRB1_chr4_47026567_47431447 | 47123865 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0026 a0001c0002t0001g0025 |
2 | 156 | 0.0128 | -9 | c.241 others(28): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GABRB1_chr4_47026567_47431447 | 47283356 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01361.hp2 HG02040.hp1 HG02040.hp2 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0026 a0001c0001t0001g0031 a0001c0001t0001g0056 others(34): Show |
37 | 45 | 0.8222 | -9 | c.462 others(28): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26572047 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG02895.hp2 HG02965.hp1 HG03130.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0047 a0001c0001t0008g0063 a0001c0001t0008g0079 others(2): Show |
5 | 177 | 0.0282 | -9 | c.683 others(26): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 6/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26747952 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(83): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0035 a0001c0001t0001g0043 a0001c0001t0001g0044 others(83): Show |
86 | 120 | 0.7167 | -9 | c.240 others(28): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRG2_chr5_162062773_162160526 | 162077103 | GTGTGTGT others(2): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02818.hp2 HG02965.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0002 | a0001c0001t0004g0022 a0001c0001t0004g0301 a0001c0001t0004g0302 others(2): Show |
5 | 326 | 0.0153 | -9 | c.107 others(26): Show |
GABRG2 | ENSG00000113327.17 | transcript | ENST00000639213.2 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 26974843 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01981.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0012a0001c0002t0006a0001c0002t0013others(4): Show | a0001c0001t0012g0025 a0001c0002t0006g0062 a0001c0002t0013g0024 others(4): Show |
7 | 25 | 0.2800 | -9 | c.54- others(24): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27307023 | TATAAACA others(2): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0076 a0001c0001t0001g0077 a0001c0001t0004g0007 |
3 | 92 | 0.0326 | -9 | c.271 others(28): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | chr15 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27346064 | AAAGAGAG others(2): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG02145.hp1 HG03453.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0011 | a0001c0001t0001a0001c0001t0015a0001c0001t0031others(2): Show | a0001c0001t0001g0033 a0001c0001t0001g0043 a0001c0001t0001g0071 others(4): Show |
7 | 92 | 0.0761 | -9 | c.574 others(28): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRP_chr5_170778725_170819047 | 170804992 | TTATATAT others(2): Show |
T | intron_variant | MODIFIER | NA18945.hp1 NA18954.hp2 NA18969.hp1 others(2): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0002c0004others(1): Show | a0001c0001t0001a0001c0003t0002a0002c0004t0025others(1): Show | a0001c0001t0001g0177 a0001c0001t0001g0182 a0001c0003t0002g0110 others(2): Show |
5 | 355 | 0.0141 | -9 | c.542 others(24): Show |
GABRP | ENSG00000094755.17 | transcript | ENST00000265294.9 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GADD45A_chr1_67680201_67693334 | 67682819 | CCCCAAAA others(2): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00609.hp1 others(68): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(3): Show |
71 | 402 | 0.1766 | -9 | c.-26 others(20): Show |
GADD45A | ENSG00000116717.13 | transcript | ENST00000370986.9 | protein_coding | 2381 | chr1 | TogoVar | |||||||
GADD45A_chr1_67680201_67693334 | 67687587 | TTTCTCCT others(2): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG02486.hp1 HG02647.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 10 | 402 | 0.0249 | -9 | c.385 others(22): Show |
GADD45A | ENSG00000116717.13 | transcript | ENST00000370986.9 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
GADD45GIP1_chr19_12948119_12962223 | 12961691 | ATTTTTTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01123.hp2 HG02280.hp2 HG02451.hp1 others(19): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001a0001c0005t0013 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0011 others(2): Show |
22 | 32 | 0.6875 | -9 | c.-44 others(20): Show |
GADD45GIP1 | ENSG00000179271.3 | transcript | ENST00000316939.3 | protein_coding | 4469 | chr19 | TogoVar | |||||||
GADL1_chr3_30721197_30899661 | 30768554 | AGAGAGAA others(2): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp1 HG01256.hp2 others(1): Show |
a0001a0006 | a0001c0001a0006c0010 | a0001c0001t0002a0006c0010t0014 | a0001c0001t0002g0249 a0001c0001t0002g0251 a0001c0001t0002g0252 others(1): Show |
4 | 263 | 0.0152 | -9 | c.139 others(28): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 14/14 | chr3 | TogoVar | |||||||
GAK_chr4_844277_937316 | 895006 | TAAATAAA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp2 others(47): Show |
a0001a0005a0018others(2): Show | a0001c0001a0001c0004a0001c0008others(7): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(8): Show | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0076 others(47): Show |
50 | 388 | 0.1289 | -9 | c.742 others(25): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 7/27 | chr4 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241808071 | CCTCGGCA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG02040.hp2 HG02486.hp1 HG03130.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0067 a0001c0001t0002g0159 a0002c0002t0002g0004 others(2): Show |
5 | 310 | 0.0161 | -9 | c.*39 others(20): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3785 | chr2 | TogoVar | |||||||
GALK2_chr15_49165247_49336882 | 49277137 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01070.hp1 NA18962.hp2 NA18981.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0046 | a0001c0001t0005g0011 a0001c0001t0005g0013 a0001c0001t0005g0017 others(3): Show |
6 | 7 | 0.8571 | -9 | c.505 others(26): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49299726 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00733.hp2 HG01175.hp2 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(8): Show | a0001c0001t0001g0285 a0001c0001t0001g0286 a0001c0001t0002g0047 others(29): Show |
32 | 346 | 0.0925 | -9 | c.967 others(26): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38709147 | GGACAGGG others(2): Show |
G | intron_variant | MODIFIER | HG01243.hp1 HG01496.hp2 HG01884.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0005a0001c0003t0005a0001c0003t0035others(6): Show | a0001c0001t0005g0205 a0001c0003t0005g0215 a0001c0003t0005g0216 others(21): Show |
25 | 326 | 0.0767 | -9 | c.634 others(28): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154310444 | TTTTTTTT others(2): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0002a0001c0004a0001c0005others(2): Show | a0001c0002t0045a0001c0004t0035a0001c0005t0027others(2): Show | a0001c0002t0045g0150 a0001c0004t0035g0073 a0001c0005t0027g0205 others(2): Show |
5 | 234 | 0.0214 | -9 | c.401 others(28): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154344205 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG01243.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0046 a0001c0001t0001g0048 a0001c0001t0002g0120 others(21): Show |
24 | 234 | 0.1026 | -9 | c.568 others(28): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154043415 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG02615.hp1 HG03195.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0027a0001c0001t0066others(1): Show | a0001c0001t0003g0008 a0001c0001t0027g0009 a0001c0001t0066g0005 others(1): Show |
4 | 163 | 0.0245 | -9 | c.143 others(28): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | chr2 | TogoVar | |||||||
GALNT13_chr2_153866922_154458979 | 154351682 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01069.hp2 HG01070.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0047 others(50): Show |
53 | 56 | 0.9464 | -9 | c.115 others(30): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154362125 | AACTGGTG others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(141): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0021 others(141): Show |
144 | 212 | 0.6792 | -9 | c.115 others(30): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 30987706 | TCCCTCCC others(2): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp2 HG02886.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0015 others(5): Show |
8 | 130 | 0.0615 | -9 | c.299 others(26): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 2/14 | chr2 | TogoVar | |||||||
GALNT14_chr2_30905467_31143440 | 30987707 | CCCTCCCC others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(70): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0019 others(70): Show |
73 | 224 | 0.3259 | -9 | c.299 others(26): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 2/14 | chr2 | TogoVar | |||||||
GALNT15_chr3_16169680_16235165 | 16207535 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 HG02723.hp2 others(5): Show |
a0003a0005 | a0003c0008a0003c0015a0003c0034others(1): Show | a0003c0008t0010a0003c0008t0042a0003c0008t0050others(4): Show | a0003c0008t0010g0010 a0003c0008t0042g0032 a0003c0008t0050g0323 others(4): Show |
8 | 386 | 0.0207 | -9 | c.912 others(24): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
GALNT15_chr3_16169680_16235165 | 16213287 | CTACTAAA others(2): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG00733.hp1 HG01106.hp1 others(53): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0002t0003a0002c0003t0001others(9): Show | a0001c0001t0001g0247 a0001c0002t0003g0141 a0002c0003t0001g0017 others(52): Show |
56 | 218 | 0.2569 | -9 | c.139 others(26): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71134835 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0008a0001c0002t0002others(1): Show | a0001c0001t0002g0018 a0001c0001t0002g0019 a0001c0001t0002g0021 others(4): Show |
7 | 26 | 0.2692 | -9 | c.238 others(26): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71187282 | CTTTCTTT others(2): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG02129.hp1 NA18983.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(1): Show | a0001c0001t0001g0039 a0001c0001t0005g0051 a0001c0001t0007g0055 others(2): Show |
5 | 76 | 0.0658 | -9 | c.238 others(28): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71227174 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG01243.hp2 HG02040.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0037 a0001c0001t0001g0039 a0001c0001t0001g0045 others(14): Show |
17 | 38 | 0.4474 | -9 | c.238 others(28): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71361377 | TTGAAACC others(2): Show |
T | intron_variant | MODIFIER | HG03490.hp1 HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0042 a0001c0001t0004g0028 a0001c0001t0004g0029 |
3 | 76 | 0.0395 | -9 | c.422 others(28): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 2/10 | chr7 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71377115 | ATATATAT others(2): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG02896.hp1 HG03704.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0002t0002a0001c0002t0007others(2): Show | a0001c0001t0005g0054 a0001c0002t0002g0020 a0001c0002t0007g0060 others(2): Show |
5 | 76 | 0.0658 | -9 | c.423 others(28): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 2/10 | chr7 | TogoVar | |||||||
GALNT17_chr7_71127144_71718599 | 71486334 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00642.hp2 HG00735.hp2 others(19): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0034 others(19): Show |
22 | 24 | 0.9167 | -9 | c.962 others(28): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11309456 | CCTAGAAA others(2): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01106.hp1 HG01123.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0189 a0001c0001t0001g0237 a0001c0001t0002g0053 others(7): Show |
10 | 258 | 0.0388 | -9 | c.151 others(30): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 9/10 | chr11 | TogoVar | |||||||
GALNT18_chr11_11265877_11627005 | 11440429 | AAGGTGGG others(2): Show |
A | intron_variant | MODIFIER | NA18974.hp1 NA19057.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0065 a0001c0002t0001g0215 |
2 | 258 | 0.0078 | -9 | c.429 others(26): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 2/10 | chr11 | TogoVar | |||||||
GALNT2_chr1_230062238_230287122 | 230141788 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp1 HG02572.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(9): Show | a0001c0001t0001g0276 a0001c0001t0001g0315 a0001c0001t0003g0258 others(15): Show |
18 | 100 | 0.1800 | -9 | c.127 others(28): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GALNT2_chr1_230062238_230287122 | 230264972 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG00673.hp2 others(57): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0005a0001c0002t0001a0001c0002t0004others(9): Show | a0001c0001t0005g0098 a0001c0002t0001g0011 a0001c0002t0001g0034 others(57): Show |
60 | 160 | 0.3750 | -9 | c.131 others(26): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GALNT3_chr2_165742588_165799247 | 165769407 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp2 NA18940.hp1 NA18948.hp1 others(12): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0001 | a0001c0001t0001g0019 a0001c0001t0001g0041 a0001c0001t0001g0301 others(9): Show |
15 | 96 | 0.1563 | -9 | c.515 others(24): Show |
GALNT3 | ENSG00000115339.14 | transcript | ENST00000392701.8 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
GALNT5_chr2_157252705_157323491 | 157256568 | AAATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01071.hp2 HG01361.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0044 a0001c0001t0001g0057 others(16): Show |
21 | 257 | 0.0817 | -9 | c.-15 others(20): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1136 | chr2 | TogoVar | |||||||
GALNT5_chr2_157252705_157323491 | 157256570 | ATATATAT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01123.hp1 HG01928.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0014others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0017 a0001c0001t0001g0134 others(4): Show |
7 | 233 | 0.0300 | -9 | c.-15 others(20): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1134 | chr2 | TogoVar |