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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GAGE12F_chrX_49555842_49573205 | 49572292 | C | CGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG02129.hp1 HG02523.hp1 HG02615.hp2 others(4): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0003c0003t0001a0005c0005t0002 | a0001c0001t0001g0007a0001c0001t0001g0079a0003c0003t0001g0077others(3): Show | 7 | 99 | 0.0707 | 8 | c.*41 others(19): Show |
GAGE12F | ENSG00000236362.9 | transcript | ENST00000440137.2 | protein_coding | 4088 | chrX | TogoVar | ||||||
GAGE12G_chrX_49565400_49582754 | 49572292 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01168.hp1 HG01891.hp1 others(17): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(3): Show | a0001c0001t0001g0022a0002c0002t0001g0001a0002c0002t0001g0059others(10): Show | 20 | 95 | 0.2105 | 8 | c.205 others(21): Show |
GAGE12G | ENSG00000215269.6 | transcript | ENST00000445148.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GAGE12G_chrX_49565400_49582754 | 49576452 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG02896.hp2 HG03041.hp1 NA20300.hp1 |
a0003 | a0003c0003 | a0003c0003t0001a0003c0003t0002 | a0003c0003t0001g0047a0003c0003t0002g0057a0003c0003t0002g0068 | 3 | 95 | 0.0316 | 8 | c.332 others(25): Show |
GAGE12G | ENSG00000215269.6 | transcript | ENST00000445148.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GAGE12G_chrX_49565400_49582754 | 49581841 | C | CGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG01168.hp1 HG01361.hp2 HG01516.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(4): Show | a0001c0001t0001g0022a0002c0002t0001g0065a0002c0002t0003g0063others(10): Show | 16 | 95 | 0.1684 | 8 | c.*41 others(19): Show |
GAGE12G | ENSG00000215269.6 | transcript | ENST00000445148.2 | protein_coding | 4088 | chrX | TogoVar | ||||||
GAGE12H_chrX_49574949_49592301 | 49576452 | T | TTTTATTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 HG01496.hp2 HG03491.hp1 others(2): Show |
a0002a0003a0005others(1): Show | a0002c0002a0003c0003a0005c0005others(1): Show | a0002c0002t0001a0003c0003t0001a0005c0005t0001others(2): Show | a0002c0002t0001g0046a0003c0003t0001g0049a0005c0005t0001g0091others(2): Show | 5 | 116 | 0.0431 | 8 | c.-36 others(19): Show |
GAGE12H | ENSG00000224902.6 | transcript | ENST00000381722.2 | protein_coding | 3496 | chrX | TogoVar | ||||||
GAGE12H_chrX_49574949_49592301 | 49581841 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01981.hp1 HG02080.hp2 others(5): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0002a0009c0009others(1): Show | a0001c0001t0001a0002c0002t0001a0009c0009t0011others(1): Show | a0001c0001t0001g0031a0002c0002t0001g0011a0002c0002t0001g0046others(4): Show | 8 | 116 | 0.0690 | 8 | c.205 others(21): Show |
GAGE12H | ENSG00000224902.6 | transcript | ENST00000381722.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GAGE12H_chrX_49574949_49592301 | 49590451 | T | TGCTCTGC others(1): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0054 | 1 | 116 | 0.0086 | 8 | c.*32 others(19): Show |
GAGE12H | ENSG00000224902.6 | transcript | ENST00000381722.2 | protein_coding | 3151 | chrX | TogoVar | ||||||
GAGE12H_chrX_49574949_49592301 | 49591376 | G | GTGTGTGC others(1): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG03130.hp1 NA19080.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0005a0003c0003t0002a0003c0003t0005 | a0002c0002t0005g0020a0003c0003t0002g0088a0003c0003t0005g0080 | 3 | 116 | 0.0259 | 8 | c.*41 others(19): Show |
GAGE12H | ENSG00000224902.6 | transcript | ENST00000381722.2 | protein_coding | 4076 | chrX | TogoVar | ||||||
GAGE12H_chrX_49574949_49592301 | 49591387 | C | CGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG01081.hp1 NA19081.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0040a0004c0004t0001g0074 | 2 | 116 | 0.0172 | 8 | c.*41 others(19): Show |
GAGE12H | ENSG00000224902.6 | transcript | ENST00000381722.2 | protein_coding | 4087 | chrX | TogoVar | ||||||
GAGE13_chrX_49326582_49343949 | 49328093 | T | TTTTATTT others(1): Show |
upstream_gene_variant | MODIFIER | NA18940.hp1 NA18963.hp2 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0030a0004c0004t0002g0031 | 2 | 93 | 0.0215 | 8 | c.-36 others(19): Show |
GAGE13 | ENSG00000274274.2 | transcript | ENST00000612958.2 | protein_coding | 3488 | chrX | TogoVar | ||||||
GAGE1_chrX_49594020_49613538 | 49595522 | T | TTTTATTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00544.hp1 others(38): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0010others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0006others(20): Show | 41 | 311 | 0.1318 | 8 | c.-36 others(19): Show |
GAGE1 | ENSG00000205777.19 | transcript | ENST00000381700.11 | protein_coding | 3497 | chrX | TogoVar | ||||||
GAGE2A_chrX_49584496_49601824 | 49591387 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0080 | 1 | 130 | 0.0077 | 8 | c.202 others(21): Show |
GAGE2A | ENSG00000189064.9 | transcript | ENST00000362097.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GAGE2A_chrX_49584496_49601824 | 49595522 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01975.hp2 HG02004.hp1 others(7): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0005others(4): Show | a0001c0001t0001g0083a0002c0002t0001g0050a0002c0002t0001g0054others(7): Show | 10 | 130 | 0.0769 | 8 | c.329 others(25): Show |
GAGE2A | ENSG00000189064.9 | transcript | ENST00000362097.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GAGE2A_chrX_49584496_49601824 | 49600914 | C | CGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0080 | 1 | 130 | 0.0077 | 8 | c.*41 others(19): Show |
GAGE2A | ENSG00000189064.9 | transcript | ENST00000362097.2 | protein_coding | 4091 | chrX | TogoVar | ||||||
GAK_chr4_844277_937316 | 894978 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01168.hp1 HG02055.hp2 HG02145.hp2 others(13): Show |
a0001a0006a0017 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0186a0001c0002t0001g0029a0001c0002t0001g0258others(13): Show | 16 | 390 | 0.0410 | 8 | c.742 others(23): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 7/27 | chr4 | TogoVar | ||||||
GAK_chr4_844277_937316 | 920539 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02071.hp1 HG03041.hp1 others(7): Show |
a0001a0006a0017 | a0001c0001a0001c0002a0006c0013others(1): Show | a0001c0001t0001a0001c0002t0001a0006c0013t0001others(1): Show | a0001c0001t0001g0073a0001c0001t0001g0273a0001c0001t0001g0274others(7): Show | 10 | 390 | 0.0256 | 8 | c.146 others(25): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | ||||||
GAL3ST1_chr22_30549635_30579665 | 30570977 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02083.hp2 HG02523.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0032a0001c0001t0001g0069a0001c0001t0001g0073others(3): Show | 7 | 452 | 0.0155 | 8 | c.-12 others(27): Show |
GAL3ST1 | ENSG00000128242.13 | transcript | ENST00000406361.6 | protein_coding | 1/3 | chr22 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241786139 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG01243.hp2 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0009a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(6): Show | a0001c0001t0001g0043a0001c0001t0001g0059a0001c0001t0001g0060others(31): Show | 37 | 314 | 0.1178 | 8 | c.29+ others(23): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GAL3ST2_chr2_241771822_241809287 | 241805556 | A | ACCCTCCC others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01257.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0190a0001c0001t0001g0206a0001c0001t0002g0179others(5): Show | 8 | 314 | 0.0255 | 8 | c.*13 others(19): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1270 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805669 | A | ACCCTCCC others(1): Show |
downstream_gene_variant | MODIFIER | HG03098.hp2 HG04184.hp1 HG06807.hp1 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0062others(2): Show | 5 | 314 | 0.0159 | 8 | c.*15 others(19): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1383 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805782 | A | ACCCTCCC others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG02280.hp2 HG04115.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0057a0001c0001t0001g0190a0001c0001t0001g0206others(5): Show | 8 | 314 | 0.0255 | 8 | c.*16 others(19): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1496 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241806002 | A | ACCCTCCC others(1): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG02055.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0086a0001c0001t0001g0089a0001c0001t0001g0219others(2): Show | 5 | 314 | 0.0159 | 8 | c.*18 others(19): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1716 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241806154 | A | ACCCTCCC others(1): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 HG03017.hp1 HG03195.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0214a0002c0002t0001g0100a0002c0002t0002g0004others(2): Show | 5 | 314 | 0.0159 | 8 | c.*19 others(19): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1868 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241806189 | A | ACCCTCCC others(1): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG01255.hp1 HG02145.hp2 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0061a0001c0001t0001g0214a0002c0002t0001g0136others(2): Show | 5 | 314 | 0.0159 | 8 | c.*20 others(19): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1903 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241806224 | A | ACCCTCCC others(1): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01952.hp1 HG02647.hp1 others(2): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0003c0003t0001a0005c0005t0001 | a0001c0001t0001g0052a0001c0001t0001g0206a0001c0001t0001g0242others(2): Show | 5 | 314 | 0.0159 | 8 | c.*20 others(19): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1938 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241806532 | A | ACCCTCCC others(1): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 NA18943.hp2 NA18990.hp2 others(1): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0002c0002t0001a0006c0006t0001 | a0001c0001t0001g0013a0001c0001t0001g0061a0002c0002t0001g0015others(1): Show | 4 | 314 | 0.0127 | 8 | c.*23 others(19): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2246 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241806645 | A | ACCCTCCC others(1): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG01943.hp1 HG02027.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0210a0001c0001t0001g0218a0001c0001t0002g0179others(4): Show | 7 | 314 | 0.0223 | 8 | c.*24 others(19): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2359 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241806758 | A | ACCCTCCC others(1): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG01516.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0191a0001c0001t0001g0218a0001c0001t0001g0225others(5): Show | 8 | 314 | 0.0255 | 8 | c.*25 others(19): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2472 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241806988 | A | ACCCTCCC others(1): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 NA18990.hp2 NA19090.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0013a0002c0002t0001g0103a0002c0002t0002g0079others(1): Show | 4 | 314 | 0.0127 | 8 | c.*28 others(19): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2702 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807023 | A | ACCCTCCC others(1): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG02071.hp1 HG02080.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0211a0002c0002t0001g0017a0002c0002t0001g0135others(3): Show | 6 | 314 | 0.0191 | 8 | c.*28 others(19): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 2737 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241808080 | G | GCCACCCT others(1): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 HG03209.hp2 NA21309.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0214a0002c0002t0001g0108a0002c0002t0002g0021 | 3 | 314 | 0.0096 | 8 | c.*39 others(19): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3794 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241808083 | A | ACCCTCCC others(1): Show |
downstream_gene_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02630.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0002g0049others(6): Show | 9 | 314 | 0.0287 | 8 | c.*39 others(19): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3797 | chr2 | TogoVar | ||||||
GAL3ST4_chr7_100154244_100173617 | 100165819 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00558.hp2 others(65): Show |
a0001a0002a0009 | a0001c0001a0002c0003a0009c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0030others(29): Show | 68 | 402 | 0.1692 | 8 | c.429 others(23): Show |
GAL3ST4 | ENSG00000197093.11 | transcript | ENST00000360039.9 | protein_coding | 3/3 | chr7 | TogoVar | ||||||
GAL3ST4_chr7_100154244_100173617 | 100168005 | G | GAGACACA others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02615.hp1 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045a0001c0001t0001g0135a0001c0001t0001g0136others(1): Show | 5 | 402 | 0.0124 | 8 | c.-18 others(25): Show |
GAL3ST4 | ENSG00000197093.11 | transcript | ENST00000360039.9 | protein_coding | 1/3 | chr7 | TogoVar | ||||||
GALC_chr14_87928014_87998182 | 87936896 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG01433.hp2 HG02055.hp2 HG02559.hp1 others(3): Show |
a0002a0004 | a0002c0002a0002c0008a0004c0003 | a0002c0002t0002a0002c0008t0002a0004c0003t0005 | a0002c0002t0002g0021a0002c0002t0002g0143a0002c0002t0002g0144others(2): Show | 6 | 370 | 0.0162 | 8 | c.191 others(27): Show |
GALC | ENSG00000054983.17 | transcript | ENST00000261304.7 | protein_coding | 16/16 | chr14 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49178195 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01243.hp2 HG02273.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0001t0018others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0329a0001c0001t0001g0333others(10): Show | 13 | 348 | 0.0374 | 8 | c.53+ others(23): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49192485 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG02165.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0002g0051a0001c0001t0002g0077a0001c0001t0005g0212others(19): Show | 22 | 348 | 0.0632 | 8 | c.54- others(23): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49192487 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01070.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0016a0001c0001t0020others(3): Show | a0001c0001t0002g0041a0001c0001t0002g0079a0001c0001t0002g0081others(17): Show | 20 | 348 | 0.0575 | 8 | c.54- others(23): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49192489 | A | ATATATGT others(1): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02132.hp1 HG03017.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0100a0001c0001t0002g0101a0001c0001t0002g0102others(2): Show | 5 | 348 | 0.0144 | 8 | c.54- others(23): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49198838 | T | TCTCCCTC others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(101): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(17): Show | a0001c0001t0001g0006a0001c0001t0001g0010a0001c0001t0001g0250others(101): Show | 104 | 348 | 0.2989 | 8 | c.54- others(23): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49204364 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01243.hp2 HG01496.hp1 others(36): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0011a0001c0002t0017others(6): Show | a0001c0002t0004g0170a0001c0002t0004g0171a0001c0002t0004g0172others(35): Show | 39 | 348 | 0.1121 | 8 | c.142 others(25): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49210957 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02293.hp2 HG02976.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0011 | a0001c0002t0003g0140a0001c0002t0003g0141a0001c0002t0003g0142others(3): Show | 6 | 348 | 0.0172 | 8 | c.143 others(25): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49210973 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02451.hp2 HG03831.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0021a0001c0002t0051others(1): Show | a0001c0002t0004g0176a0001c0002t0021g0003a0001c0002t0051g0169others(1): Show | 4 | 348 | 0.0115 | 8 | c.143 others(25): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49258788 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02273.hp2 HG02602.hp2 HG02717.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0011 | a0001c0002t0004g0172a0001c0002t0004g0175a0001c0002t0004g0182others(5): Show | 8 | 348 | 0.0230 | 8 | c.504 others(27): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49294087 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01255.hp2 HG01496.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0023others(4): Show | a0001c0001t0001g0251a0001c0001t0001g0270a0001c0001t0001g0272others(15): Show | 19 | 348 | 0.0546 | 8 | c.967 others(25): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49294140 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01978.hp1 HG02004.hp2 HG02040.hp1 others(18): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0250a0001c0001t0001g0269a0001c0001t0001g0275others(18): Show | 21 | 348 | 0.0603 | 8 | c.967 others(25): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49299735 | T | TTTCTTTT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01928.hp1 HG01928.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0012a0001c0001t0027others(1): Show | a0001c0001t0001g0258a0001c0001t0001g0281a0001c0001t0001g0295others(4): Show | 7 | 348 | 0.0201 | 8 | c.967 others(25): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49332087 | C | CCACACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp2 HG02109.hp2 |
a0001 | a0001c0002 | a0001c0002t0017a0001c0002t0021 | a0001c0002t0017g0002a0001c0002t0021g0003 | 3 | 348 | 0.0086 | 8 | c.*39 others(19): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 206 | chr15 | TogoVar | ||||||
GALNS_chr16_88808734_88861947 | 88848774 | T | TGCTGACT others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02976.hp1 HG03486.hp2 others(2): Show |
a0003 | a0003c0007 | a0003c0007t0004 | a0003c0007t0004g0066a0003c0007t0004g0103a0003c0007t0004g0104others(2): Show | 5 | 404 | 0.0124 | 8 | c.121 others(25): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 1/13 | chr16 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154190789 | C | CCGGGCGG others(1): Show |
5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(98): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(28): Show | a0001c0001t0002g0068a0001c0001t0002g0069a0001c0001t0002g0075others(98): Show | 101 | 236 | 0.4280 | 8 | c.-67 others(15): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 1/12 | 59 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |