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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
FLT1_chr13_28295346_28500128 | 28412329 | C | CTTTCTTT others(39): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02027.hp2 NA19043.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0006 | a0001c0001t0001g0086 a0001c0001t0001g0169 a0001c0002t0006g0126 |
3 | 160 | 0.0188 | 46 | c.143 others(65): Show |
FLT1 | ENSG00000102755.13 | transcript | ENST00000282397.9 | protein_coding | 10/29 | chr13 | TogoVar | |||||||
FLT1_chr13_28295346_28500128 | 28412330 | T | TTTCTTTC others(39): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02165.hp1 HG04184.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0019a0001c0002t0001others(1): Show | a0001c0001t0001g0175 a0001c0001t0001g0178 a0001c0001t0019g0083 others(2): Show |
5 | 130 | 0.0385 | 46 | c.143 others(65): Show |
FLT1 | ENSG00000102755.13 | transcript | ENST00000282397.9 | protein_coding | 10/29 | chr13 | TogoVar | |||||||
FLT1_chr13_28295346_28500128 | 28412330 | T | TTTCTTTC others(39): Show |
intron_variant | MODIFIER | HG02056.hp1 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 a0001c0001t0001g0171 |
2 | 127 | 0.0157 | 46 | c.143 others(65): Show |
FLT1 | ENSG00000102755.13 | transcript | ENST00000282397.9 | protein_coding | 10/29 | chr13 | TogoVar | |||||||
FLT4_chr5_180596506_180654600 | 180615442 | G | GCCCCGCT others(39): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 225 | 0.0044 | 46 | c.321 others(63): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 23/29 | chr5 | TogoVar | |||||||
FLT4_chr5_180596506_180654600 | 180615483 | T | TCTTTCGG others(39): Show |
intron_variant | MODIFIER | HG01257.hp2 HG03927.hp1 NA20905.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0006 | a0001c0001t0001g0318 a0002c0003t0006g0333 a0002c0003t0006g0334 |
3 | 227 | 0.0132 | 46 | c.321 others(63): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 23/29 | chr5 | TogoVar | |||||||
FMN1_chr15_32760544_33199714 | 32950020 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0085 | 1 | 137 | 0.0073 | 46 | c.313 others(67): Show |
FMN1 | ENSG00000248905.10 | transcript | ENST00000616417.5 | protein_coding | 9/20 | chr15 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240241825 | C | CTTTTTTT others(39): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0025 | a0025c0042 | a0025c0042t0001 | a0025c0042t0001g0004 | 1 | 47 | 0.0213 | 46 | c.406 others(67): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FN3KRP_chr17_82711706_82733013 | 82730039 | C | CGGACATC others(39): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00609.hp2 others(81): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0004others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 others(44): Show |
84 | 419 | 0.2005 | 46 | c.*28 others(57): Show |
FN3KRP | ENSG00000141560.15 | transcript | ENST00000269373.11 | protein_coding | 2027 | chr17 | TogoVar | |||||||
FN3KRP_chr17_82711706_82733013 | 82730039 | C | CGGACATC others(39): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02145.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0011 | 5 | 340 | 0.0147 | 46 | c.*28 others(57): Show |
FN3KRP | ENSG00000141560.15 | transcript | ENST00000269373.11 | protein_coding | 2027 | chr17 | TogoVar | |||||||
FN3KRP_chr17_82711706_82733013 | 82730076 | C | CTGGGACC others(39): Show |
downstream_gene_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 424 | 0.0024 | 46 | c.*29 others(57): Show |
FN3KRP | ENSG00000141560.15 | transcript | ENST00000269373.11 | protein_coding | 2064 | chr17 | TogoVar | |||||||
FN3KRP_chr17_82711706_82733013 | 82730101 | G | ACTCAGCA others(39): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(330): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 others(119): Show |
333 | 424 | 0.7854 | 46 | c.*29 others(57): Show |
FN3KRP | ENSG00000141560.15 | transcript | ENST00000269373.11 | protein_coding | 2088 | chr17 | TogoVar | |||||||
FNIP2_chr4_158764026_158913050 | 158875515 | G | GATATATA others(39): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0026 | 1 | 6 | 0.1667 | 46 | c.294 others(65): Show |
FNIP2 | ENSG00000052795.13 | transcript | ENST00000264433.11 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FNIP2_chr4_158764026_158913050 | 158875541 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02818.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0009t0002 | a0001c0001t0002g0233 a0001c0009t0002g0235 |
2 | 203 | 0.0099 | 46 | c.294 others(65): Show |
FNIP2 | ENSG00000052795.13 | transcript | ENST00000264433.11 | protein_coding | 14/16 | chr4 | TogoVar | |||||||
FOXI1_chr5_170100897_170114734 | 170105348 | G | GGAGAGGG others(39): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 302 | 0.0033 | 46 | c.-61 others(55): Show |
FOXI1 | ENSG00000168269.10 | transcript | ENST00000306268.8 | protein_coding | 548 | chr5 | TogoVar | |||||||
FOXI1_chr5_170100897_170114734 | 170105356 | G | GGGGGGGG others(39): Show |
upstream_gene_variant | MODIFIER | HG00408.hp2 HG02135.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 2 | 245 | 0.0082 | 46 | c.-60 others(55): Show |
FOXI1 | ENSG00000168269.10 | transcript | ENST00000306268.8 | protein_coding | 540 | chr5 | TogoVar | |||||||
FOXI1_chr5_170100897_170114734 | 170105368 | G | GGAGAGAG others(39): Show |
upstream_gene_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01106.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 |
8 | 116 | 0.0690 | 46 | c.-59 others(55): Show |
FOXI1 | ENSG00000168269.10 | transcript | ENST00000306268.8 | protein_coding | 528 | chr5 | TogoVar | |||||||
FOXI1_chr5_170100897_170114734 | 170105370 | G | GGAGAGAG others(39): Show |
upstream_gene_variant | MODIFIER | NA19083.hp1 NA19087.hp2 |
a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0007 | 2 | 6 | 0.3333 | 46 | c.-58 others(55): Show |
FOXI1 | ENSG00000168269.10 | transcript | ENST00000306268.8 | protein_coding | 526 | chr5 | TogoVar | |||||||
FOXK1_chr7_4677295_4776442 | 4705970 | A | ATGTATAT others(39): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0007 | a0001c0007t0004 | a0001c0007t0004g0234 | 1 | 288 | 0.0035 | 46 | c.560 others(65): Show |
FOXK1 | ENSG00000164916.11 | transcript | ENST00000328914.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586256 | G | GAGGGGAA others(39): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03710.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0021a0002c0002t0001 | a0001c0001t0021g0247 a0002c0002t0001g0103 |
2 | 216 | 0.0093 | 46 | c.157 others(61): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
FOXN3_chr14_89151177_89422233 | 89377020 | C | CAAAAAAA others(39): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0150 | 1 | 6 | 0.1667 | 46 | c.544 others(65): Show |
FOXN3 | ENSG00000053254.16 | transcript | ENST00000557258.6 | protein_coding | 2/5 | chr14 | TogoVar | |||||||
FOXP1_chr3_70949708_71588728 | 71397010 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0046 | 1 | 88 | 0.0114 | 46 | c.-16 others(67): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | |||||||
FOXP2_chr7_114409815_114698765 | 114587879 | A | ATATATAT others(39): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0136 | 1 | 97 | 0.0103 | 46 | c.259 others(65): Show |
FOXP2 | ENSG00000128573.28 | transcript | ENST00000350908.9 | protein_coding | 3/16 | chr7 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1316956 | G | GCCCCCCC others(39): Show |
downstream_gene_variant | MODIFIER | NA18906.hp2 | a0007 | a0007c0008 | a0007c0008t0002 | a0007c0008t0002g0000 | 1 | 374 | 0.0027 | 46 | c.*30 others(57): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2199 | chr6 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1316956 | G | GCCCCCCC others(39): Show |
downstream_gene_variant | MODIFIER | HG03579.hp2 | a0007 | a0007c0008 | a0007c0008t0002 | a0007c0008t0002g0000 | 1 | 374 | 0.0027 | 46 | c.*30 others(57): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2199 | chr6 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1316961 | C | CCCTCCAG others(39): Show |
downstream_gene_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 402 | 0.0025 | 46 | c.*30 others(57): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2204 | chr6 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1316999 | G | GCCCCCCC others(39): Show |
downstream_gene_variant | MODIFIER | HG03491.hp1 | a0014 | a0014c0015 | a0014c0015t0001 | a0014c0015t0001g0000 | 1 | 298 | 0.0034 | 46 | c.*30 others(57): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2242 | chr6 | TogoVar | |||||||
FRAS1_chr4_78052323_78549269 | 78249064 | C | CATATATA others(39): Show |
intron_variant | MODIFIER | HG00323.hp2 NA20300.hp2 |
a0029a0100 | a0029c0035a0100c0069 | a0029c0035t0005a0100c0069t0008 | a0029c0035t0005g0043 a0100c0069t0008g0101 |
2 | 24 | 0.0833 | 46 | c.310 others(63): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 4/73 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FRAS1_chr4_78052323_78549269 | 78249066 | T | TATATATA others(39): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02055.hp2 |
a0002a0004 | a0002c0053a0004c0018 | a0002c0053t0044a0004c0018t0015 | a0002c0053t0044g0024 a0004c0018t0015g0122 |
2 | 174 | 0.0115 | 46 | c.310 others(63): Show |
FRAS1 | ENSG00000138759.20 | transcript | ENST00000512123.4 | protein_coding | 4/73 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
FRMD4A_chr10_13638706_14335924 | 13884118 | A | ACTCACAC others(39): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013 | a0001c0001t0004g0073 a0001c0001t0013g0074 |
2 | 97 | 0.0206 | 46 | c.46- others(63): Show |
FRMD4A | ENSG00000151474.23 | transcript | ENST00000357447.7 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
FRS2_chr12_69465388_69584793 | 69485097 | A | ACACACAC others(39): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012 | 1 | 324 | 0.0031 | 46 | c.-26 others(67): Show |
FRS2 | ENSG00000166225.9 | transcript | ENST00000549921.6 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FRYL_chr4_48492357_48785279 | 48656308 | T | TATATATT others(39): Show |
intron_variant | MODIFIER | HG03453.hp1 NA19030.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0211 a0002c0004t0001g0239 |
2 | 268 | 0.0075 | 46 | c.-80 others(65): Show |
FRYL | ENSG00000075539.15 | transcript | ENST00000358350.9 | protein_coding | 3/63 | chr4 | TogoVar | |||||||
FRYL_chr4_48492357_48785279 | 48656317 | C | CATAATAT others(39): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp1 others(74): Show |
a0001a0003a0005others(5): Show | a0001c0002a0001c0003a0001c0006others(7): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(11): Show | a0001c0002t0001g0004 a0001c0002t0001g0010 a0001c0002t0001g0012 others(74): Show |
77 | 104 | 0.7404 | 46 | c.-80 others(65): Show |
FRYL | ENSG00000075539.15 | transcript | ENST00000358350.9 | protein_coding | 3/63 | chr4 | TogoVar | |||||||
FSHR_chr2_48957157_49159515 | 49021863 | C | CTCTCTCT others(39): Show |
intron_variant | MODIFIER | HG01975.hp2 NA18972.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0100 a0002c0002t0002g0115 |
2 | 167 | 0.0120 | 46 | c.225 others(63): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 2/9 | chr2 | TogoVar | |||||||
FSHR_chr2_48957157_49159515 | 49021863 | C | CTCTCTCT others(39): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 166 | 0.0060 | 46 | c.225 others(63): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 2/9 | chr2 | TogoVar | |||||||
FSHR_chr2_48957157_49159515 | 49021863 | C | CTCTCTCT others(39): Show |
intron_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 166 | 0.0060 | 46 | c.225 others(63): Show |
FSHR | ENSG00000170820.12 | transcript | ENST00000406846.7 | protein_coding | 2/9 | chr2 | TogoVar | |||||||
FSTL5_chr4_161378897_162169000 | 161783675 | T | TTCCCTTC others(39): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0003 | a0003c0005 | a0003c0005t0005 | a0003c0005t0005g0076 | 1 | 102 | 0.0098 | 46 | c.410 others(63): Show |
FSTL5 | ENSG00000168843.14 | transcript | ENST00000306100.10 | protein_coding | 4/15 | chr4 | TogoVar | |||||||
FXN_chr9_69030752_69084076 | 69037284 | A | AAAAGAAG others(39): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01192.hp2 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0299 a0001c0001t0006g0300 a0001c0001t0006g0337 |
3 | 15 | 0.2000 | 46 | c.165 others(63): Show |
FXN | ENSG00000165060.15 | transcript | ENST00000484259.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FYTTD1_chr3_197744883_197792596 | 197792577 | T | TTATATAT others(39): Show |
downstream_gene_variant | MODIFIER | HG03669.hp2 NA18940.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0216 a0001c0001t0006g0112 |
2 | 70 | 0.0286 | 46 | c.*10 others(59): Show |
FYTTD1 | ENSG00000122068.13 | transcript | ENST00000241502.9 | protein_coding | 4982 | chr3 | TogoVar | |||||||
FZR1_chr19_3501311_3543334 | 3529299 | T | TGAGTGGA others(39): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0064 | 1 | 312 | 0.0032 | 46 | c.655 others(63): Show |
FZR1 | ENSG00000105325.15 | transcript | ENST00000441788.7 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
G3BP2_chr4_75637786_75678411 | 75643295 | T | TTATATAT others(39): Show |
3_prime_UTR_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0046 | a0001c0001t0046g0229 | 1 | 133 | 0.0075 | 46 | c.*21 others(57): Show |
G3BP2 | ENSG00000138757.15 | transcript | ENST00000359707.9 | protein_coding | 12/12 | 2134 | chr4 | TogoVar | ||||||
GAB1_chr4_143331876_143479565 | 143373868 | A | AATAAATA others(39): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0189 | 1 | 91 | 0.0110 | 46 | c.72+ others(63): Show |
GAB1 | ENSG00000109458.10 | transcript | ENST00000262994.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
GABBR2_chr9_98283109_98713935 | 98688394 | C | CATATATA others(39): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0015 | a0001c0015t0010 | a0001c0015t0010g0039 | 1 | 17 | 0.0588 | 46 | c.321 others(65): Show |
GABBR2 | ENSG00000136928.7 | transcript | ENST00000259455.4 | protein_coding | 1/18 | chr9 | TogoVar | |||||||
GABRA2_chr4_46238548_46395128 | 46273468 | C | CATATATA others(39): Show |
intron_variant | MODIFIER | HG00639.hp2 NA21309.hp1 |
a0001 | a0001c0002 | a0001c0002t0027a0001c0002t0072 | a0001c0002t0027g0029 a0001c0002t0072g0206 |
2 | 123 | 0.0163 | 46 | c.857 others(65): Show |
GABRA2 | ENSG00000151834.16 | transcript | ENST00000381620.9 | protein_coding | 8/9 | chr4 | TogoVar | |||||||
GAD1_chr2_170811887_170866151 | 170828147 | C | CACCCTCC others(39): Show |
intron_variant | MODIFIER | NA18986.hp2 NA18988.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 a0001c0001t0001g0137 |
2 | 354 | 0.0056 | 46 | c.146 others(63): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GAD1_chr2_170811887_170866151 | 170828365 | T | TTCCCTCT others(39): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0280 | 1 | 410 | 0.0024 | 46 | c.146 others(63): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805556 | A | ACCCTCCC others(39): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 175 | 0.0057 | 46 | c.*13 others(57): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1270 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241806154 | A | ACCTTCCC others(39): Show |
downstream_gene_variant | MODIFIER | NA18990.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 235 | 0.0043 | 46 | c.*19 others(57): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1868 | chr2 | TogoVar | |||||||
GAL3ST2_chr2_241771822_241809287 | 241806532 | A | ACCCTCCC others(39): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0077 | 1 | 205 | 0.0049 | 46 | c.*23 others(57): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2246 | chr2 | TogoVar | |||||||
GALC_chr14_87928014_87998182 | 87936896 | C | CTATATAT others(39): Show |
intron_variant | MODIFIER | HG03540.hp2 NA19001.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0002 | a0001c0001t0001g0317 a0002c0004t0002g0291 |
2 | 40 | 0.0500 | 46 | c.191 others(65): Show |
GALC | ENSG00000054983.17 | transcript | ENST00000261304.7 | protein_coding | 16/16 | chr14 | TogoVar | |||||||
GALNS_chr16_88808734_88861947 | 88825044 | G | GCCTGGGT others(39): Show |
intron_variant | MODIFIER | HG02165.hp2 NA18950.hp1 NA19005.hp2 others(2): Show |
a0002 | a0002c0010 | a0002c0010t0005 | a0002c0010t0005g0008 a0002c0010t0005g0271 a0002c0010t0005g0381 others(1): Show |
5 | 402 | 0.0124 | 46 | c.114 others(63): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 10/13 | chr16 | TogoVar |