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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GAK_chr4_844277_937316 | 856411 | T | TCACACCT others(6): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122a0001c0001t0001g0123 | 2 | 390 | 0.0051 | 13 | c.328 others(32): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 24/27 | chr4 | TogoVar | ||||||
GAK_chr4_844277_937316 | 902596 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG00735.hp2 others(27): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0010others(5): Show | a0001c0001t0001a0001c0001t0007a0001c0004t0001others(6): Show | a0001c0001t0001g0158a0001c0001t0001g0159a0001c0001t0001g0285others(27): Show | 30 | 390 | 0.0769 | 13 | c.525 others(30): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 5/27 | chr4 | TogoVar | ||||||
GAK_chr4_844277_937316 | 902604 | A | AACAAAAA others(6): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 390 | 0.0026 | 13 | c.525 others(30): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 5/27 | chr4 | TogoVar | ||||||
GAK_chr4_844277_937316 | 902605 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01361.hp2 HG01934.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108a0001c0001t0002g0113a0001c0001t0002g0117others(9): Show | 12 | 390 | 0.0308 | 13 | c.525 others(30): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 5/27 | chr4 | TogoVar | ||||||
GAK_chr4_844277_937316 | 920539 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00673.hp1 HG02165.hp1 others(6): Show |
a0001a0021 | a0001c0002a0021c0027 | a0001c0002t0001a0021c0027t0001 | a0001c0002t0001g0025a0001c0002t0001g0026a0001c0002t0001g0028others(6): Show | 9 | 390 | 0.0231 | 13 | c.146 others(30): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | ||||||
GALC_chr14_87928014_87998182 | 87967766 | C | CAAAAATG others(6): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0278 | 1 | 370 | 0.0027 | 13 | c.908 others(28): Show |
GALC | ENSG00000054983.17 | transcript | ENST00000261304.7 | protein_coding | 8/16 | chr14 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49210976 | C | CACACACA others(6): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0130 | 1 | 348 | 0.0029 | 13 | c.143 others(30): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49228687 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0003 | 1 | 348 | 0.0029 | 13 | c.267 others(30): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49228687 | A | ATATATTT others(6): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0125 | 1 | 348 | 0.0029 | 13 | c.267 others(30): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49228687 | A | ATATTTTT others(6): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03098.hp1 HG03209.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0003t0008 | a0001c0001t0008g0122a0001c0001t0008g0127a0001c0003t0008g0126 | 3 | 348 | 0.0086 | 13 | c.267 others(30): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49324400 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01175.hp2 HG01257.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0045a0001c0002t0004 | a0001c0001t0002g0077a0001c0001t0002g0091a0001c0001t0002g0092others(3): Show | 6 | 348 | 0.0172 | 13 | c.117 others(32): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38703092 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0216 | 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 | 38703092 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 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 | 38703092 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0224 | 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 | 38703093 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01243.hp2 HG01255.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070a0001c0001t0001g0088a0001c0001t0001g0098others(2): Show | 5 | 328 | 0.0152 | 13 | c.634 others(32): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154330908 | G | GTGTGTGT others(6): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 236 | 0.0042 | 13 | c.568 others(30): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 4/11 | chr5 | TogoVar | ||||||
GALNT11_chr7_152020674_152127340 | 152042298 | A | ATGTCCCC others(6): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02486.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0037a0001c0001t0003g0038a0001c0001t0003g0039others(8): Show | 11 | 284 | 0.0387 | 13 | c.-39 others(32): Show |
GALNT11 | ENSG00000178234.13 | transcript | ENST00000430044.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT12_chr9_98802670_98855081 | 98821624 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0311 | 1 | 376 | 0.0027 | 13 | c.372 others(30): Show |
GALNT12 | ENSG00000119514.7 | transcript | ENST00000375011.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GALNT12_chr9_98802670_98855081 | 98851170 | G | GTAACCAA others(6): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 376 | 0.0027 | 13 | c.*20 others(24): Show |
GALNT12 | ENSG00000119514.7 | transcript | ENST00000375011.4 | protein_coding | 1090 | chr9 | TogoVar | ||||||
GALNT12_chr9_98802670_98855081 | 98854834 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0218 | 1 | 376 | 0.0027 | 13 | c.*57 others(24): Show |
GALNT12 | ENSG00000119514.7 | transcript | ENST00000375011.4 | protein_coding | 4754 | chr9 | TogoVar | ||||||
GALNT13_chr2_153866922_154458979 | 154014635 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01099.hp2 HG01175.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0014others(1): Show | a0001c0001t0002g0116a0001c0001t0006g0134a0001c0001t0006g0147others(2): Show | 5 | 214 | 0.0234 | 13 | c.142 others(32): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154417521 | A | ATTTATTT others(6): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0137 | 1 | 214 | 0.0047 | 13 | c.139 others(32): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT14_chr2_30905467_31143440 | 30917076 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0004 | a0004c0011 | a0004c0011t0007 | a0004c0011t0007g0185 | 1 | 226 | 0.0044 | 13 | c.138 others(32): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 13/14 | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 30977092 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02451.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0019a0001c0001t0001g0021others(9): Show | 12 | 226 | 0.0531 | 13 | c.300 others(32): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 2/14 | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 31038084 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0003 | a0003c0007 | a0003c0007t0001 | a0003c0007t0001g0115 | 1 | 226 | 0.0044 | 13 | c.130 others(32): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 31038085 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG02559.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130a0001c0001t0001g0131 | 2 | 226 | 0.0089 | 13 | c.130 others(32): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 31076630 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | NA18978.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0087 | 2 | 226 | 0.0089 | 13 | c.129 others(32): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
GALNT15_chr3_16169680_16235165 | 16232518 | A | ATATATAT others(6): Show |
downstream_gene_variant | MODIFIER | HG01167.hp2 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0337 | 1 | 388 | 0.0026 | 13 | c.*50 others(24): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2354 | chr3 | TogoVar | ||||||
GALNT15_chr3_16169680_16235165 | 16233094 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0281a0001c0001t0016g0280 | 2 | 388 | 0.0052 | 13 | c.*55 others(24): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2930 | chr3 | TogoVar | ||||||
GALNT15_chr3_16169680_16235165 | 16234192 | T | TCCAACAC others(6): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 388 | 0.0026 | 13 | c.*66 others(24): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 4028 | chr3 | TogoVar | ||||||
GALNT16_chr14_69255158_69359466 | 69322925 | G | GGGTGTGT others(6): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0046 | 1 | 306 | 0.0033 | 13 | c.336 others(30): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71449108 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03130.hp1 NA18983.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0014 | a0001c0001t0001g0037a0001c0001t0001g0045a0001c0003t0014g0068 | 3 | 76 | 0.0395 | 13 | c.962 others(32): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71647229 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02109.hp1 HG02451.hp2 others(4): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0037a0001c0001t0002g0024a0001c0001t0004g0048others(4): Show | 7 | 76 | 0.0921 | 13 | c.108 others(34): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71682333 | T | TCCCCATC others(6): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0037others(42): Show | 45 | 76 | 0.5921 | 13 | c.150 others(32): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT18_chr11_11265877_11627005 | 11284930 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02630.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0187a0001c0002t0003g0215 | 2 | 260 | 0.0077 | 13 | c.167 others(32): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 10/10 | chr11 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11419596 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0241 | 1 | 260 | 0.0039 | 13 | c.595 others(32): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 3/10 | chr11 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11497327 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0152 | 1 | 260 | 0.0039 | 13 | c.236 others(32): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11578330 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0249 | 1 | 260 | 0.0039 | 13 | c.235 others(32): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
GALNT1_chr18_35576740_35716834 | 35702878 | A | ATTATTTA others(6): Show |
splice_region_variant others(1): Show |
LOW | HG01884.hp2 HG01891.hp1 HG02258.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0013a0001c0004t0001 | a0001c0001t0013g0167a0001c0001t0013g0169a0001c0004t0001g0129others(2): Show | 5 | 310 | 0.0161 | 13 | c.130 others(27): Show |
GALNT1 | ENSG00000141429.14 | transcript | ENST00000269195.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
GALNT2_chr1_230062238_230287122 | 230252843 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19077.hp2 NA19084.hp1 |
a0002 | a0002c0007 | a0002c0007t0002 | a0002c0007t0002g0075a0002c0007t0002g0152 | 2 | 324 | 0.0062 | 13 | c.100 others(32): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GALNT3_chr2_165742588_165799247 | 165769437 | T | TAATAATA others(6): Show |
intron_variant | MODIFIER | HG00438.hp1 HG02071.hp1 HG02071.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021a0001c0001t0002g0055a0001c0001t0002g0060others(3): Show | 7 | 386 | 0.0181 | 13 | c.515 others(28): Show |
GALNT3 | ENSG00000115339.14 | transcript | ENST00000392701.8 | protein_coding | 2/10 | chr2 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157256547 | T | TAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG02071.hp1 NA18979.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0004a0003c0007 | a0001c0001t0001a0003c0004t0005a0003c0007t0002others(1): Show | a0001c0001t0001g0215a0003c0004t0005g0228a0003c0007t0002g0217others(1): Show | 4 | 282 | 0.0142 | 13 | c.-15 others(24): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1157 | chr2 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157256569 | A | AAAAAAAA others(6): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0223 | 1 | 282 | 0.0036 | 13 | c.-15 others(24): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1135 | chr2 | TogoVar | ||||||
GALNT6_chr12_51346252_51396406 | 51350956 | T | TTGGTTGG others(6): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(386): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(108): Show | a0001c0001t0001g0010a0001c0001t0001g0011a0001c0001t0001g0012others(372): Show | 389 | 428 | 0.9089 | 13 | c.*34 others(24): Show |
GALNT6 | ENSG00000139629.16 | transcript | ENST00000356317.8 | protein_coding | 295 | chr12 | TogoVar | ||||||
GALNT6_chr12_51346252_51396406 | 51371054 | A | AATTTATT others(6): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02257.hp2 HG02615.hp2 others(6): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0015 | a0001c0001t0006a0001c0001t0007a0001c0001t0051others(3): Show | a0001c0001t0006g0019a0001c0001t0006g0133a0001c0001t0007g0295others(6): Show | 9 | 428 | 0.0210 | 13 | c.665 others(30): Show |
GALNT6 | ENSG00000139629.16 | transcript | ENST00000356317.8 | protein_coding | 4/11 | chr12 | TogoVar | ||||||
GALNT7_chr4_173163811_173328967 | 173216727 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG03225.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090a0001c0001t0001g0091 | 2 | 266 | 0.0075 | 13 | c.127 others(32): Show |
GALNT7 | ENSG00000109586.12 | transcript | ENST00000265000.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNT7_chr4_173163811_173328967 | 173216727 | A | ATATATTT others(6): Show |
intron_variant | MODIFIER | HG02056.hp1 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128a0001c0001t0001g0142 | 2 | 266 | 0.0075 | 13 | c.127 others(32): Show |
GALNT7 | ENSG00000109586.12 | transcript | ENST00000265000.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNT7_chr4_173163811_173328967 | 173216727 | A | ATATTTTT others(6): Show |
intron_variant | MODIFIER | HG02135.hp1 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121a0001c0001t0001g0162 | 2 | 266 | 0.0075 | 13 | c.127 others(32): Show |
GALNT7 | ENSG00000109586.12 | transcript | ENST00000265000.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132223320 | T | TACACCCC others(6): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0159 | 1 | 183 | 0.0055 | 13 | c.107 others(34): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132257534 | T | TCCCCACG others(6): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0034 | 1 | 183 | 0.0055 | 13 | c.959 others(28): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 5/10 | chr12 | TogoVar |