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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GABRB3_chr15_26538552_26778066 | 26554176 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG00733.hp2 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024 | a0001c0001t0001g0174a0001c0001t0024g0116 | 2 | 204 | 0.0098 | 34 | c.108 others(53): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26554190 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0198a0001c0001t0014g0199 | 2 | 204 | 0.0098 | 34 | c.108 others(53): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26554190 | A | ATAAAGTG others(27): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0072 | 1 | 204 | 0.0049 | 34 | c.108 others(53): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | ||||||
GABRG1_chr4_46030769_46129054 | 46117784 | G | GTATATAC others(27): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(53): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0025others(8): Show | a0001c0001t0001g0043a0001c0001t0001g0044a0001c0001t0001g0045others(53): Show | 56 | 308 | 0.1818 | 34 | c.104 others(51): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
GABRG1_chr4_46030769_46129054 | 46117920 | C | CTATATAC others(27): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG01071.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0005others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0118a0001c0001t0001g0119others(28): Show | 32 | 308 | 0.1039 | 34 | c.104 others(51): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
GABRG1_chr4_46030769_46129054 | 46117920 | C | CTATATAC others(27): Show |
intron_variant | MODIFIER | HG03491.hp1 HG03492.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276a0001c0001t0001g0277a0001c0001t0001g0278 | 3 | 308 | 0.0097 | 34 | c.104 others(51): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
GABRG1_chr4_46030769_46129054 | 46117937 | T | TATGTATA others(27): Show |
intron_variant | MODIFIER | HG02622.hp2 HG03540.hp2 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0020 | a0001c0002t0002g0287a0001c0002t0020g0288 | 2 | 308 | 0.0065 | 34 | c.104 others(51): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
GABRG1_chr4_46030769_46129054 | 46117978 | A | ACATGTGT others(27): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 308 | 0.0033 | 34 | c.104 others(51): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
GABRG1_chr4_46030769_46129054 | 46118024 | A | ATATACAT others(27): Show |
intron_variant | MODIFIER | HG01258.hp1 NA20129.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0275a0001c0002t0002g0060 | 2 | 308 | 0.0065 | 34 | c.104 others(51): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 1/8 | chr4 | TogoVar | ||||||
GABRG1_chr4_46030769_46129054 | 46128321 | G | GATATATA others(27): Show |
upstream_gene_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0020 | 1 | 308 | 0.0033 | 34 | c.-44 others(45): Show |
GABRG1 | ENSG00000163285.8 | transcript | ENST00000295452.5 | protein_coding | 4268 | chr4 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27307578 | C | CAGGTTTA others(27): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 92 | 0.0109 | 34 | c.271 others(53): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27307673 | A | ATAAACAT others(27): Show |
intron_variant | MODIFIER | HG03139.hp1 NA18522.hp2 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0010 | a0001c0003t0001g0065a0001c0004t0010g0075 | 2 | 92 | 0.0217 | 34 | c.271 others(53): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27307728 | A | AATATATA others(27): Show |
intron_variant | MODIFIER | HG02451.hp1 NA19030.hp1 |
a0001 | a0001c0004a0001c0006 | a0001c0004t0011a0001c0006t0013 | a0001c0004t0011g0078a0001c0006t0013g0017 | 2 | 92 | 0.0217 | 34 | c.271 others(53): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27308195 | C | CATATATG others(27): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0013 | a0001c0013t0023 | a0001c0013t0023g0006 | 1 | 92 | 0.0109 | 34 | c.271 others(53): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27308195 | C | CATATATG others(27): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0007 | a0001c0007t0036 | a0001c0007t0036g0016 | 1 | 92 | 0.0109 | 34 | c.271 others(53): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27313262 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0014 | 1 | 92 | 0.0109 | 34 | c.271 others(53): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRP_chr5_170778725_170819047 | 170797505 | A | ATACCCCA others(27): Show |
frameshift_variant | HIGH | NA18954.hp2 | a0010 | a0010c0011 | a0010c0011t0002 | a0010c0011t0002g0111 | 1 | 362 | 0.0028 | 34 | c.500 others(41): Show |
p.Glu others(5): Show |
GABRP | ENSG00000094755.17 | transcript | ENST00000265294.9 | protein_coding | 6/10 | 726/3304 | 534/1323 | 178/440 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |
GADL1_chr3_30721197_30899661 | 30751055 | A | ACAGGTGC others(27): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0009 | 1 | 282 | 0.0036 | 34 | c.139 others(55): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 14/14 | chr3 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30867439 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0007 | a0007c0009 | a0007c0009t0002 | a0007c0009t0002g0260 | 1 | 282 | 0.0036 | 34 | c.38- others(49): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30867439 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 282 | 0.0036 | 34 | c.38- others(49): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 1/14 | chr3 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30895247 | T | TTGTGTGT others(27): Show |
upstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 282 | 0.0036 | 34 | c.-63 others(43): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 587 | chr3 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807616 | C | CCTCAGCC others(27): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0080 | 1 | 314 | 0.0032 | 34 | c.*34 others(45): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3330 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807653 | C | CTCCCCCT others(27): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 314 | 0.0032 | 34 | c.*34 others(45): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3367 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807888 | T | TCCCTCCC others(27): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 HG02896.hp2 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0001 | a0001c0001t0001g0132a0005c0005t0001g0002 | 2 | 314 | 0.0064 | 34 | c.*37 others(45): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3602 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241807931 | T | TCCCTCCC others(27): Show |
downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 314 | 0.0032 | 34 | c.*37 others(45): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 3645 | chr2 | TogoVar | ||||||
GAL3ST4_chr7_100154244_100173617 | 100172698 | C | CGTGTATA others(27): Show |
upstream_gene_variant | MODIFIER | NA18980.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 402 | 0.0025 | 34 | c.-43 others(45): Show |
GAL3ST4 | ENSG00000197093.11 | transcript | ENST00000360039.9 | protein_coding | 4082 | chr7 | TogoVar | ||||||
GALC_chr14_87928014_87998182 | 87928094 | T | TCCCCCCC others(27): Show |
downstream_gene_variant | MODIFIER | HG03688.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0197 | 1 | 370 | 0.0027 | 34 | c.*66 others(45): Show |
GALC | ENSG00000054983.17 | transcript | ENST00000261304.7 | protein_coding | 4919 | chr14 | TogoVar | ||||||
GALC_chr14_87928014_87998182 | 87936896 | C | CTATATAT others(27): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01934.hp1 HG02257.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029a0001c0001t0001g0085a0001c0001t0001g0124 | 4 | 370 | 0.0108 | 34 | c.191 others(53): Show |
GALC | ENSG00000054983.17 | transcript | ENST00000261304.7 | protein_coding | 16/16 | chr14 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49228682 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0069 | 1 | 348 | 0.0029 | 34 | c.267 others(51): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49228687 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0210 | 1 | 348 | 0.0029 | 34 | c.267 others(51): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALNS_chr16_88808734_88861947 | 88834576 | C | CGTGGTCT others(27): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01884.hp1 HG02258.hp2 others(2): Show |
a0001a0003a0014 | a0001c0002a0003c0016a0014c0020 | a0001c0002t0004a0003c0016t0004a0014c0020t0021 | a0001c0002t0004g0009a0001c0002t0004g0010a0003c0016t0004g0024others(2): Show | 5 | 404 | 0.0124 | 34 | c.898 others(49): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 8/13 | chr16 | TogoVar | ||||||
GALNS_chr16_88808734_88861947 | 88834643 | C | CCGCGTGG others(27): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00735.hp1 others(44): Show |
a0001a0002a0010others(1): Show | a0001c0002a0001c0004a0001c0024others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(5): Show | a0001c0002t0001g0102a0001c0002t0001g0198a0001c0002t0002g0008others(44): Show | 47 | 404 | 0.1163 | 34 | c.898 others(49): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 8/13 | chr16 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154293594 | G | GATATATA others(27): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0232 | 1 | 236 | 0.0042 | 34 | c.160 others(51): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154014635 | C | CTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 214 | 0.0047 | 34 | c.142 others(53): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154269906 | G | GTATATAT others(27): Show |
intron_variant | MODIFIER | HG01346.hp1 HG01943.hp1 HG02273.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(1): Show | a0001c0001t0001g0011a0001c0001t0003g0021a0001c0001t0003g0024others(2): Show | 5 | 214 | 0.0234 | 34 | c.975 others(53): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154269906 | G | GTGTATAT others(27): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01074.hp1 HG01346.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0019 | a0001c0001t0005g0119a0001c0001t0008g0043a0001c0001t0008g0058others(1): Show | 4 | 214 | 0.0187 | 34 | c.975 others(53): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT15_chr3_16169680_16235165 | 16233094 | C | CTTTTTTT others(27): Show |
downstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 | 1 | 388 | 0.0026 | 34 | c.*55 others(45): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2930 | chr3 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71201239 | T | TTATATAT others(27): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0075 | 1 | 76 | 0.0132 | 34 | c.238 others(53): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71245848 | G | GTTTTTTT others(27): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0055 | 1 | 76 | 0.0132 | 34 | c.239 others(53): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71265118 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0013 | 1 | 76 | 0.0132 | 34 | c.239 others(53): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71319124 | T | TTCTTTCT others(27): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 76 | 0.0132 | 34 | c.239 others(53): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71693305 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0057 | 1 | 76 | 0.0132 | 34 | c.150 others(55): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71701784 | T | TGTATATA others(27): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0073 | 1 | 76 | 0.0132 | 34 | c.150 others(53): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | chr7 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157256569 | A | AAAAAAAA others(27): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0003 | a0002c0003t0023 | a0002c0003t0023g0188 | 1 | 282 | 0.0036 | 34 | c.-15 others(45): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1135 | chr2 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157290112 | T | TATATATA others(27): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03209.hp2 HG03579.hp2 |
a0004 | a0004c0006 | a0004c0006t0010a0004c0006t0013a0004c0006t0014 | a0004c0006t0010g0178a0004c0006t0013g0179a0004c0006t0014g0183 | 3 | 282 | 0.0106 | 34 | c.174 others(53): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT7_chr4_173163811_173328967 | 173216706 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0238 | 1 | 266 | 0.0038 | 34 | c.127 others(53): Show |
GALNT7 | ENSG00000109586.12 | transcript | ENST00000265000.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNT9_chr12_132191372_132334589 | 132295879 | G | GAACAGGG others(27): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0014 | a0001c0014t0003 | a0001c0014t0003g0146 | 1 | 183 | 0.0055 | 34 | c.239 others(51): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132295983 | A | AAACAGGG others(27): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 183 | 0.0055 | 34 | c.239 others(51): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172528952 | C | CATATATA others(27): Show |
intron_variant | MODIFIER | NA18522.hp1 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0034a0001c0001t0004g0013 | 2 | 40 | 0.0500 | 34 | c.553 others(55): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172528963 | A | ATATATAT others(27): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 40 | 0.0250 | 34 | c.553 others(55): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |