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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GABRB1_chr4_47026567_47431447 | 47333219 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG01256.hp2 HG02280.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0097 a0001c0001t0003g0085 a0001c0001t0004g0152 others(6): Show |
9 | 158 | 0.0570 | -18 | c.544 others(37): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GABRB1_chr4_47026567_47431447 | 47358347 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG02717.hp2 HG03516.hp2 NA18522.hp1 |
a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0041 a0001c0006t0006g0126 a0001c0006t0006g0129 |
3 | 158 | 0.0190 | -18 | c.544 others(37): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GABRB2_chr5_161283436_161551725 | 161341952 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0088 a0001c0001t0017g0096 a0001c0001t0017g0262 others(1): Show |
4 | 266 | 0.0150 | -18 | c.542 others(35): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 5/9 | chr5 | TogoVar | |||||||
GABRB2_chr5_161283436_161551725 | 161363526 | ATAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01516.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0034a0001c0001t0039 | a0001c0001t0017g0088 a0001c0001t0017g0096 a0001c0001t0017g0262 others(3): Show |
6 | 266 | 0.0226 | -18 | c.542 others(37): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 5/9 | chr5 | TogoVar | |||||||
GABRB2_chr5_161283436_161551725 | 161385945 | CTGGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG01169.hp1 HG01891.hp1 HG01943.hp1 |
a0001 | a0001c0003 | a0001c0003t0020a0001c0003t0021 | a0001c0003t0020g0151 a0001c0003t0021g0147 a0001c0003t0021g0149 |
3 | 266 | 0.0113 | -18 | c.541 others(37): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 5/9 | chr5 | TogoVar | |||||||
GABRB2_chr5_161283436_161551725 | 161393299 | TAAAAAAA others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00438.hp1 others(69): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0015 a0001c0001t0001g0020 a0001c0001t0001g0022 others(69): Show |
72 | 266 | 0.2707 | -18 | c.541 others(37): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 5/9 | chr5 | TogoVar | |||||||
GABRB2_chr5_161283436_161551725 | 161469672 | CACACATA others(11): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG01496.hp1 HG02074.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0019 a0001c0001t0002g0124 a0001c0001t0002g0125 others(12): Show |
15 | 266 | 0.0564 | -18 | c.238 others(35): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26609103 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0005 a0001c0001t0001g0016 a0001c0001t0001g0068 others(40): Show |
43 | 204 | 0.2108 | -18 | c.461 others(37): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 4/8 | chr15 | TogoVar | |||||||
GABRE_chrX_151948124_151979676 | 151971849 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0011 | a0011c0024 | a0011c0024t0006 | a0011c0024t0006g0122 | 1 | 326 | 0.0031 | -18 | c.57- others(33): Show |
GABRE | ENSG00000102287.19 | transcript | ENST00000370328.4 | protein_coding | 1/8 | chrX | TogoVar | |||||||
GABRE_chrX_151948124_151979676 | 151972853 | CTTGAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG01192.hp1 others(64): Show |
a0001a0002a0008others(2): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0015 a0001c0001t0001g0019 others(57): Show |
67 | 326 | 0.2055 | -18 | c.56+ others(33): Show |
GABRE | ENSG00000102287.19 | transcript | ENST00000370328.4 | protein_coding | 1/8 | chrX | TogoVar | |||||||
GABRG1_chr4_46030769_46129054 | 46090937 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0076 | 1 | 308 | 0.0033 | -18 | c.253 others(35): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 2/8 | chr4 | TogoVar | |||||||
GABRG3_chr15_26966181_27546984 | 26974843 | TTTATTAT others(11): Show |
T | intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 92 | 0.0109 | -18 | c.54- others(33): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27285254 | GGTGTGTG others(11): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02717.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0034a0001c0002t0009others(10): Show | a0001c0001t0001g0038 a0001c0001t0034g0088 a0001c0002t0009g0022 others(10): Show |
13 | 92 | 0.1413 | -18 | c.271 others(37): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27313254 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0006 | a0001c0006t0013 | a0001c0006t0013g0017 | 1 | 92 | 0.0109 | -18 | c.271 others(37): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27313256 | GTGTGTGT others(11): Show |
G | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0039 | 1 | 92 | 0.0109 | -18 | c.271 others(37): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27313262 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG02145.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0026others(5): Show | a0001c0001t0001g0038 a0001c0001t0004g0007 a0001c0002t0026g0070 others(6): Show |
9 | 92 | 0.0978 | -18 | c.271 others(37): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27388180 | GAGGGAGG others(11): Show |
G | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 92 | 0.0109 | -18 | c.574 others(37): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GABRQ_chrX_152632895_152662542 | 152659792 | TATATACA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG01081.hp1 HG01934.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0005 a0002c0002t0002g0019 a0002c0002t0002g0020 others(4): Show |
8 | 298 | 0.0269 | -18 | c.*65 others(29): Show |
GABRQ | ENSG00000268089.3 | transcript | ENST00000598523.3 | protein_coding | 2251 | chrX | TogoVar | |||||||
GABRR2_chr6_89249464_89320299 | 89280211 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0002 | a0001c0002t0025 | a0001c0002t0025g0125 | 1 | 366 | 0.0027 | -18 | c.221 others(35): Show |
GABRR2 | ENSG00000111886.11 | transcript | ENST00000402938.4 | protein_coding | 2/8 | chr6 | TogoVar | |||||||
GABRR3_chr3_97980102_98040315 | 98005210 | AACACACA others(11): Show |
A | intron_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0049 | 1 | 382 | 0.0026 | -18 | c.754 others(35): Show |
GABRR3 | ENSG00000183185.10 | transcript | ENST00000472788.6 | protein_coding | 7/9 | chr3 | TogoVar | |||||||
GAD1_chr2_170811887_170866151 | 170824378 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(162): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0119 others(146): Show |
165 | 412 | 0.4005 | -18 | c.145 others(35): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30800806 | GACACACA others(11): Show |
G | intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 282 | 0.0036 | -18 | c.125 others(33): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
GADL1_chr3_30721197_30899661 | 30800836 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG02056.hp1 HG02074.hp2 HG02280.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0048 a0001c0001t0001g0104 a0001c0001t0001g0182 others(23): Show |
26 | 282 | 0.0922 | -18 | c.125 others(33): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 12/14 | chr3 | TogoVar | |||||||
GADL1_chr3_30721197_30899661 | 30816530 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01346.hp1 others(12): Show |
a0001a0007a0009 | a0001c0001a0001c0008a0007c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0174 a0001c0001t0002g0020 a0001c0001t0002g0111 others(12): Show |
15 | 282 | 0.0532 | -18 | c.105 others(39): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 11/14 | chr3 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241806012 | CTCAGCCC others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02165.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0090 | 1 | 314 | 0.0032 | -18 | c.*18 others(29): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1726 | chr2 | TogoVar | |||||||
GALC_chr14_87928014_87998182 | 87962578 | TACACACA others(11): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG01192.hp2 others(29): Show |
a0001a0003a0005 | a0001c0001a0001c0006a0003c0005others(1): Show | a0001c0001t0001a0001c0006t0001a0003c0005t0003others(2): Show | a0001c0001t0001g0029 a0001c0001t0001g0057 a0001c0001t0001g0060 others(27): Show |
32 | 370 | 0.0865 | -18 | c.116 others(35): Show |
GALC | ENSG00000054983.17 | transcript | ENST00000261304.7 | protein_coding | 10/16 | chr14 | TogoVar | |||||||
GALK2_chr15_49165247_49336882 | 49192485 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0037 | a0001c0002t0037g0203 | 1 | 348 | 0.0029 | -18 | c.54- others(33): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49277137 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0310 | 1 | 348 | 0.0029 | -18 | c.505 others(35): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38665483 | ATTTTTTT others(11): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02630.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0014 | a0001c0001t0003g0145 a0002c0002t0014g0325 |
2 | 328 | 0.0061 | -18 | c.-67 others(27): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 630 | chr2 | TogoVar | |||||||
GALM_chr2_38661114_38739765 | 38675518 | GTTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 | 1 | 328 | 0.0031 | -18 | c.191 others(33): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38675541 | TTTTGTGT others(11): Show |
T | intron_variant | MODIFIER | NA18945.hp2 NA18971.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0262 a0002c0002t0001g0287 |
2 | 328 | 0.0061 | -18 | c.191 others(33): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38675543 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG03041.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 a0001c0001t0001g0208 |
2 | 328 | 0.0061 | -18 | c.191 others(33): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38703080 | ATATATAT others(11): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0002 | a0002c0002t0018 | a0002c0002t0018g0008 | 1 | 328 | 0.0031 | -18 | c.634 others(37): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154421919 | TTTTTGGA others(11): Show |
T | downstream_gene_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0026 | 1 | 236 | 0.0042 | -18 | c.*49 others(29): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 936 | chr5 | TogoVar | |||||||
GALNT11_chr7_152020674_152127340 | 152055520 | CGTGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 284 | 0.0035 | -18 | c.-39 others(37): Show |
GALNT11 | ENSG00000178234.13 | transcript | ENST00000430044.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT11_chr7_152020674_152127340 | 152113712 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG01978.hp1 HG02572.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0131 a0001c0001t0003g0018 |
2 | 284 | 0.0070 | -18 | c.123 others(35): Show |
GALNT11 | ENSG00000178234.13 | transcript | ENST00000430044.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154019602 | CCACACAC others(11): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0028 a0001c0001t0003g0029 |
2 | 214 | 0.0094 | -18 | c.142 others(37): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154110278 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0177 | 1 | 214 | 0.0047 | -18 | c.143 others(37): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154110320 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0070 | 1 | 214 | 0.0047 | -18 | c.143 others(37): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154110324 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 214 | 0.0047 | -18 | c.143 others(37): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154121174 | GGAACATA others(11): Show |
G | intron_variant | MODIFIER | NA18961.hp1 NA18990.hp2 |
a0001 | a0001c0001 | a0001c0001t0046a0001c0001t0071 | a0001c0001t0046g0186 a0001c0001t0071g0175 |
2 | 214 | 0.0094 | -18 | c.143 others(37): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154133534 | TTATATAT others(11): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG03486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0020others(4): Show | a0001c0001t0004g0002 a0001c0001t0009g0091 a0001c0001t0020g0092 others(4): Show |
7 | 214 | 0.0327 | -18 | c.143 others(35): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154354405 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0036 | 1 | 214 | 0.0047 | -18 | c.115 others(39): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 30995130 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG06807.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0005g0189 |
3 | 226 | 0.0133 | -18 | c.130 others(35): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
GALNT14_chr2_30905467_31143440 | 31023148 | GAAAAACA others(11): Show |
G | intron_variant | MODIFIER | HG00423.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 226 | 0.0044 | -18 | c.130 others(37): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
GALNT14_chr2_30905467_31143440 | 31035599 | ATACACAC others(11): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(57): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0013 a0001c0001t0001g0018 a0001c0001t0001g0025 others(57): Show |
60 | 226 | 0.2655 | -18 | c.130 others(37): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
GALNT14_chr2_30905467_31143440 | 31072264 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | NA18941.hp1 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 a0001c0001t0001g0168 |
2 | 226 | 0.0089 | -18 | c.129 others(37): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
GALNT14_chr2_30905467_31143440 | 31072286 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 226 | 0.0044 | -18 | c.129 others(37): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | |||||||
GALNT15_chr3_16169680_16235165 | 16201164 | TTTTTTCT others(11): Show |
T | intron_variant | MODIFIER | HG02622.hp1 | a0003 | a0003c0005 | a0003c0005t0028 | a0003c0005t0028g0039 | 1 | 388 | 0.0026 | -18 | c.911 others(33): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GALNT15_chr3_16169680_16235165 | 16203533 | TCTCTCTC others(11): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0016 | a0001c0016t0049 | a0001c0016t0049g0346 | 1 | 388 | 0.0026 | -18 | c.911 others(35): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |