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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GABPA_chr21_25729972_25777460 | 25777172 | CTTTTTTT others(6): Show |
C | downstream_gene_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 | 1 | 376 | 0.0027 | -13 | c.*79 others(24): Show |
GABPA | ENSG00000154727.11 | transcript | ENST00000400075.4 | protein_coding | 4713 | chr21 | TogoVar | |||||||
GABPB1_chr15_50270389_50360198 | 50337116 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG02129.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0175 a0001c0001t0001g0176 a0001c0001t0001g0186 others(1): Show |
4 | 366 | 0.0109 | -13 | c.-1+ others(30): Show |
GABPB1 | ENSG00000104064.18 | transcript | ENST00000380877.8 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
GABPB2_chr1_151065761_151130542 | 151080215 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0213 | 1 | 264 | 0.0038 | -13 | c.1-7 others(26): Show |
GABPB2 | ENSG00000143458.12 | transcript | ENST00000368918.8 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GABPB2_chr1_151065761_151130542 | 151104789 | CTTTCTTT others(6): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02647.hp2 NA21309.hp1 |
a0001a0008 | a0001c0001a0008c0008 | a0001c0001t0072a0001c0001t0074a0008c0008t0073 | a0001c0001t0072g0262 a0001c0001t0074g0264 a0008c0008t0073g0263 |
3 | 264 | 0.0114 | -13 | c.736 others(30): Show |
GABPB2 | ENSG00000143458.12 | transcript | ENST00000368918.8 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GABRA1_chr5_161843120_161904971 | 161851972 | CTCTTCAA others(6): Show |
C | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0300 | 1 | 394 | 0.0025 | -13 | c.74+ others(28): Show |
GABRA1 | ENSG00000022355.18 | transcript | ENST00000393943.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
GABRA2_chr4_46238548_46395128 | 46389801 | GGGAGAGA others(6): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00621.hp2 HG01081.hp2 |
a0001 | a0001c0001 | a0001c0001t0078a0001c0001t0079 | a0001c0001t0078g0051 a0001c0001t0079g0052 |
2 | 258 | 0.0078 | -13 | c.-90 others(20): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 1/10 | 1096 | chr4 | TogoVar | ||||||
GABRA3_chrX_152161234_152456315 | 152212319 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG02523.hp2 HG02622.hp2 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0011 | a0001c0001t0001g0150 a0001c0001t0001g0171 a0001c0001t0003g0138 others(1): Show |
4 | 204 | 0.0196 | -13 | c.635 others(30): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 6/9 | chrX | TogoVar | |||||||
GABRA3_chrX_152161234_152456315 | 152360713 | AAAAAAAA others(6): Show |
A | intron_variant | MODIFIER | HG03492.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0139 | 1 | 204 | 0.0049 | -13 | c.140 others(30): Show |
GABRA3 | ENSG00000011677.13 | transcript | ENST00000370314.9 | protein_coding | 2/9 | chrX | TogoVar | |||||||
GABRB1_chr4_47026567_47431447 | 47042395 | ATGTATGT others(6): Show |
A | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0144 | 1 | 158 | 0.0063 | -13 | c.240 others(30): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 3/8 | chr4 | TogoVar | |||||||
GABRB2_chr5_161283436_161551725 | 161393299 | TAAAAAAA others(6): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG02056.hp2 HG02738.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0044 | a0001c0001t0006g0163 a0001c0001t0006g0169 a0001c0001t0006g0171 others(1): Show |
4 | 266 | 0.0150 | -13 | c.541 others(32): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 5/9 | chr5 | TogoVar | |||||||
GABRB2_chr5_161283436_161551725 | 161431345 | GAATATTT others(6): Show |
G | intron_variant | MODIFIER | NA18995.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0024 | a0001c0001t0005g0172 a0001c0001t0024g0050 |
2 | 266 | 0.0075 | -13 | c.459 others(32): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 4/9 | chr5 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26691773 | CAAAGAAA others(6): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02965.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0002 a0001c0001t0003g0150 a0001c0001t0008g0190 |
3 | 204 | 0.0147 | -13 | c.241 others(32): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26764176 | AAAAATAT others(6): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02615.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0043 a0001c0001t0005g0026 |
2 | 204 | 0.0098 | -13 | c.240 others(30): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26764178 | AAATATAT others(6): Show |
A | intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0196 | 1 | 204 | 0.0049 | -13 | c.240 others(30): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26764180 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 204 | 0.0049 | -13 | c.240 others(30): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27195106 | TTTTCATT others(6): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(89): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(50): Show | a0001c0001t0001g0005 a0001c0001t0001g0021 a0001c0001t0001g0026 others(89): Show |
92 | 92 | 1.0000 | -13 | c.271 others(34): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27195916 | TCAGCCAC others(6): Show |
T | intron_variant | MODIFIER | HG03017.hp1 HG03834.hp1 HG06807.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0034a0001c0005t0005 | a0001c0001t0001g0033 a0001c0001t0034g0088 a0001c0005t0005g0037 |
3 | 92 | 0.0326 | -13 | c.271 others(34): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27200053 | CTTCTTTC others(6): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00738.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(12): Show | a0001c0001t0001g0077 a0001c0001t0001g0087 a0001c0001t0004g0007 others(15): Show |
18 | 92 | 0.1957 | -13 | c.271 others(34): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27201577 | TACACCTT others(6): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG03139.hp1 HG03195.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0010others(4): Show | a0001c0001t0001g0038 a0001c0003t0001g0065 a0001c0004t0010g0075 others(4): Show |
7 | 92 | 0.0761 | -13 | c.271 others(34): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | chr15 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 27293440 | GCACTTTG others(6): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02717.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0009a0001c0002t0026others(6): Show | a0001c0001t0001g0038 a0001c0002t0009g0022 a0001c0002t0026g0070 others(6): Show |
9 | 92 | 0.0978 | -13 | c.271 others(32): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27351085 | AGTGTGTG others(6): Show |
A | intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091 | 1 | 92 | 0.0109 | -13 | c.574 others(32): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27352041 | GTGTGTGT others(6): Show |
G | intron_variant | MODIFIER | HG03098.hp2 HG03471.hp2 |
a0001 | a0001c0009a0001c0014 | a0001c0009t0002a0001c0014t0024 | a0001c0009t0002g0089 a0001c0014t0024g0057 |
2 | 92 | 0.0217 | -13 | c.574 others(32): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27388140 | GGGTAAGG others(6): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 92 | 0.0109 | -13 | c.574 others(32): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRR2_chr6_89249464_89320299 | 89276632 | CCTAAAGG others(6): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02886.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0017others(1): Show | a0001c0001t0001g0133 a0001c0001t0006g0330 a0001c0001t0017g0016 others(1): Show |
4 | 366 | 0.0109 | -13 | c.221 others(30): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
GABRR2_chr6_89249464_89320299 | 89300807 | TGTACAAA others(6): Show |
T | intron_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0102 | 1 | 366 | 0.0027 | -13 | c.114 others(28): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
GABRR3_chr3_97980102_98040315 | 98012009 | TGGTGGGG others(6): Show |
T | intron_variant | MODIFIER | HG01256.hp2 HG01346.hp2 HG01943.hp2 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0006others(2): Show | a0002c0002t0002g0049 a0002c0002t0002g0062 a0002c0002t0003g0044 others(4): Show |
7 | 382 | 0.0183 | -13 | c.530 others(28): Show |
GABRR3 | ENSG00000183185.10 | transcript | ENST00000472788.6 | protein_coding | 5/9 | chr3 | TogoVar | |||||||
GABRR3_chr3_97980102_98040315 | 98019109 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02976.hp2 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0199 a0001c0001t0004g0204 a0001c0001t0009g0200 |
3 | 382 | 0.0079 | -13 | c.239 others(30): Show |
GABRR3 | ENSG00000183185.10 | transcript | ENST00000472788.6 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
GAD1_chr2_170811887_170866151 | 170831759 | AAATATTT others(6): Show |
A | intron_variant | MODIFIER | HG01346.hp1 HG01928.hp1 HG01975.hp2 others(2): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0007a0001c0001t0012a0006c0011t0007 | a0001c0001t0007g0020 a0001c0001t0007g0383 a0001c0001t0012g0335 others(1): Show |
5 | 412 | 0.0121 | -13 | c.547 others(28): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GAD1_chr2_170811887_170866151 | 170855872 | CAAAAAAA others(6): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(168): Show |
a0001a0005a0008 | a0001c0001a0001c0002a0005c0010others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0038 others(155): Show |
171 | 412 | 0.4151 | -13 | c.141 others(32): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30816530 | CTTTTTTT others(6): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(28): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0034 a0001c0001t0001g0050 a0001c0001t0001g0081 others(28): Show |
31 | 282 | 0.1099 | -13 | c.105 others(34): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 11/14 | chr3 | TogoVar | |||||||
GAGE12D_chrX_49536733_49554094 | 49538232 | ATTTATTT others(6): Show |
A | upstream_gene_variant | MODIFIER | HG03704.hp2 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0056 | 1 | 72 | 0.0139 | -13 | c.-36 others(24): Show |
GAGE12D | ENSG00000227488.3 | transcript | ENST00000405679.4 | protein_coding | 3500 | chrX | TogoVar | |||||||
GAGE12H_chrX_49574949_49592301 | 49581485 | ACCTCCCT others(6): Show |
A | intron_variant | MODIFIER | HG03491.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0089 | 1 | 116 | 0.0086 | -13 | c.85- others(26): Show |
GAGE12H | ENSG00000224902.6 | transcript | ENST00000381722.2 | protein_coding | 2/4 | chrX | TogoVar | |||||||
GAK_chr4_844277_937316 | 856131 | CCTGCTCA others(6): Show |
C | intron_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0104 | 1 | 390 | 0.0026 | -13 | c.328 others(32): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 24/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 856398 | CCACCACA others(6): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(152): Show |
a0001a0004a0005others(9): Show | a0001c0001a0001c0004a0001c0008others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0008 a0001c0001t0001g0013 a0001c0001t0001g0030 others(150): Show |
155 | 390 | 0.3974 | -13 | c.328 others(32): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 24/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 856711 | CCACCACA others(6): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02293.hp2 NA18522.hp1 others(1): Show |
a0001 | a0001c0007a0001c0014 | a0001c0007t0001a0001c0014t0002 | a0001c0007t0001g0221 a0001c0014t0002g0199 a0001c0014t0002g0214 others(1): Show |
4 | 390 | 0.0103 | -13 | c.328 others(32): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 24/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 895002 | TAAATAAA others(6): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00733.hp1 others(59): Show |
a0001a0009a0010others(2): Show | a0001c0001a0001c0019a0001c0031others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0038 a0001c0001t0001g0122 a0001c0001t0001g0123 others(57): Show |
62 | 390 | 0.1590 | -13 | c.742 others(29): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 7/27 | chr4 | TogoVar | |||||||
GAK_chr4_844277_937316 | 898115 | CACAGCTT others(6): Show |
C | frameshift_variant | HIGH | NA19068.hp2 | a0023 | a0023c0049 | a0023c0049t0002 | a0023c0049t0002g0126 | 1 | 390 | 0.0026 | -13 | c.556 others(20): Show |
p.Thr others(5): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 6/28 | 697/4461 | 556/3936 | 186/1311 | chr4 | TogoVar | |||
GAL3ST1_chr22_30549635_30579665 | 30557844 | AAAAATAT others(6): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 452 | 0.0022 | -13 | c.-10 others(28): Show |
GAL3ST1 | ENSG00000128242.13 | transcript | ENST00000406361.6 | protein_coding | 2/3 | chr22 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241779214 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG02074.hp2 HG02280.hp2 HG02486.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0009a0003c0003others(1): Show | a0001c0001t0001a0001c0009t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0043 a0001c0001t0001g0056 a0001c0001t0001g0057 others(7): Show |
10 | 314 | 0.0319 | -13 | c.29+ others(28): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805643 | CCTCAGCC others(6): Show |
C | downstream_gene_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0218 | 1 | 314 | 0.0032 | -13 | c.*14 others(24): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1357 | chr2 | TogoVar | |||||||
GALK2_chr15_49165247_49336882 | 49277137 | ATTTTTTT others(6): Show |
A | intron_variant | MODIFIER | HG03688.hp2 NA18942.hp2 NA18943.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009 | a0001c0001t0001g0284 a0001c0001t0005g0225 a0001c0001t0005g0234 others(1): Show |
4 | 348 | 0.0115 | -13 | c.505 others(30): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49299722 | CTTTCTTT others(6): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00673.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0251 a0001c0001t0001g0314 a0001c0001t0001g0324 others(24): Show |
27 | 348 | 0.0776 | -13 | c.967 others(30): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38665483 | ATTTTTTT others(6): Show |
A | upstream_gene_variant | MODIFIER | HG01071.hp2 HG01099.hp2 HG01258.hp2 others(68): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0026 others(68): Show |
71 | 328 | 0.2165 | -13 | c.-67 others(22): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 630 | chr2 | TogoVar | |||||||
GALM_chr2_38661114_38739765 | 38675518 | GTTTTTTT others(6): Show |
G | intron_variant | MODIFIER | NA19000.hp1 NA19012.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0010 | a0002c0002t0001g0186 a0002c0002t0010g0187 |
2 | 328 | 0.0061 | -13 | c.191 others(28): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38675534 | TTTTTTTT others(6): Show |
T | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG06807.hp2 |
a0002 | a0002c0002 | a0002c0002t0014a0002c0002t0018 | a0002c0002t0014g0152 a0002c0002t0014g0153 a0002c0002t0018g0008 |
3 | 328 | 0.0092 | -13 | c.191 others(28): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38675540 | TTTTTGTG others(6): Show |
T | intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0325 | 1 | 328 | 0.0031 | -13 | c.191 others(28): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38675544 | TGTGTGTG others(6): Show |
T | intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0322 | 1 | 328 | 0.0031 | -13 | c.191 others(28): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 1/6 | chr2 | TogoVar | |||||||
GALM_chr2_38661114_38739765 | 38703079 | TATATATA others(6): Show |
T | intron_variant | MODIFIER | NA18939.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0261 | 1 | 328 | 0.0031 | -13 | c.634 others(32): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
GALM_chr2_38661114_38739765 | 38703082 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 | 1 | 328 | 0.0031 | -13 | c.634 others(32): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38703084 | ATATATAT others(6): Show |
A | intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 328 | 0.0031 | -13 | c.634 others(32): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |