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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GABRA5_chr15_26862062_26954208 | 26930016 | T | TTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02280.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0008others(2): Show | a0001c0001t0001g0060a0001c0003t0001g0107a0001c0003t0001g0239others(3): Show | 6 | 376 | 0.0160 | 9 | c.581 others(26): Show |
GABRA5 | ENSG00000186297.12 | transcript | ENST00000335625.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRB1_chr4_47026567_47431447 | 47288243 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG03490.hp2 HG03540.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0011 | a0001c0001t0001a0001c0003t0004a0001c0003t0011others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0003t0004g0059others(2): Show | 5 | 158 | 0.0317 | 9 | c.462 others(28): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABRB1_chr4_47026567_47431447 | 47311237 | T | TACAACAA others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(100): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(100): Show | 103 | 158 | 0.6519 | 9 | c.462 others(26): Show |
GABRB1 | ENSG00000163288.14 | transcript | ENST00000295454.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GABRB2_chr5_161283436_161551725 | 161289232 | C | CTTTTTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01891.hp2 HG02071.hp2 others(6): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0019a0001c0001t0026a0001c0001t0034others(3): Show | a0001c0001t0019g0051a0001c0001t0019g0066a0001c0001t0019g0083others(6): Show | 9 | 266 | 0.0338 | 9 | c.*48 others(20): Show |
GABRB2 | ENSG00000145864.14 | transcript | ENST00000393959.6 | protein_coding | 10/10 | 4848 | chr5 | TogoVar | |||||
GABRB3_chr15_26538552_26778066 | 26554190 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG00673.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(2): Show | a0001c0001t0002g0007a0001c0001t0002g0070a0001c0001t0002g0077others(10): Show | 13 | 204 | 0.0637 | 9 | c.108 others(28): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 8/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26565168 | T | TTGATGAT others(2): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01884.hp1 HG02055.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(4): Show | a0001c0001t0003g0002a0001c0001t0003g0043a0001c0001t0003g0051others(15): Show | 18 | 204 | 0.0882 | 9 | c.835 others(26): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 7/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26635010 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0111a0001c0001t0001g0158a0001c0001t0001g0166others(28): Show | 31 | 204 | 0.1520 | 9 | c.241 others(28): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRB3_chr15_26538552_26778066 | 26674407 | A | AAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp1 HG02109.hp2 HG02280.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0100a0001c0001t0002g0140a0001c0001t0004g0163others(5): Show | 8 | 204 | 0.0392 | 9 | c.241 others(28): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRG2_chr5_162062773_162160526 | 162105432 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp1 others(64): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0045a0001c0001t0001g0152a0001c0001t0001g0219others(60): Show | 67 | 328 | 0.2043 | 9 | c.769 others(26): Show |
GABRG2 | ENSG00000113327.17 | transcript | ENST00000639213.2 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27216757 | T | TATTTATT others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01109.hp2 HG03098.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0011others(6): Show | a0001c0001t0001g0038a0001c0003t0001g0065a0001c0004t0011g0078others(6): Show | 9 | 92 | 0.0978 | 9 | c.271 others(30): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27308069 | T | TAATATAA others(2): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01891.hp1 HG02717.hp2 |
a0001 | a0001c0001a0001c0012a0001c0016 | a0001c0001t0028a0001c0012t0003a0001c0016t0001 | a0001c0001t0028g0054a0001c0012t0003g0068a0001c0016t0001g0074 | 3 | 92 | 0.0326 | 9 | c.271 others(28): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27317894 | C | CCACTGTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00738.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0021others(11): Show | a0001c0001t0001g0021a0001c0001t0001g0044a0001c0001t0001g0084others(17): Show | 20 | 92 | 0.2174 | 9 | c.271 others(26): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27369806 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03098.hp2 HG06807.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0028a0001c0003t0022a0001c0005t0005others(1): Show | a0001c0001t0028g0054a0001c0003t0022g0058a0001c0005t0005g0037others(1): Show | 4 | 92 | 0.0435 | 9 | c.574 others(28): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27387906 | G | GGGGAAGA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 NA19240.hp2 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0002a0001c0005t0002a0001c0005t0005 | a0001c0004t0002g0061a0001c0005t0002g0067a0001c0005t0005g0045 | 3 | 92 | 0.0326 | 9 | c.574 others(28): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRR3_chr3_97980102_98040315 | 98026612 | T | TCATCATT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00597.hp1 others(102): Show |
a0001a0004a0005others(1): Show | a0001c0001a0004c0004a0005c0005others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0001a0001c0001t0002g0005a0001c0001t0002g0006others(92): Show | 105 | 382 | 0.2749 | 9 | c.126 others(24): Show |
GABRR3 | ENSG00000183185.10 | transcript | ENST00000472788.6 | protein_coding | 2/9 | chr3 | TogoVar | ||||||
GAD1_chr2_170811887_170866151 | 170828105 | G | GTCCTCAC others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(185): Show |
a0001a0003a0007 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0003a0001c0001t0001g0010a0001c0001t0001g0038others(170): Show | 188 | 412 | 0.4563 | 9 | c.146 others(26): Show |
GAD1 | ENSG00000128683.14 | transcript | ENST00000358196.8 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GAD2_chr10_26211774_26309558 | 26264474 | G | GATTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00639.hp2 others(15): Show |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0004a0001c0002t0030a0004c0006t0029 | a0001c0002t0004g0007a0001c0002t0004g0008a0001c0002t0004g0031others(13): Show | 18 | 294 | 0.0612 | 9 | c.921 others(26): Show |
GAD2 | ENSG00000136750.13 | transcript | ENST00000376261.8 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GAGE12G_chrX_49565400_49582754 | 49572292 | C | CGTGTGTG others(2): Show |
intron_variant | MODIFIER | NA18981.hp2 | a0009 | a0009c0012 | a0009c0012t0011 | a0009c0012t0011g0078 | 1 | 95 | 0.0105 | 9 | c.205 others(22): Show |
GAGE12G | ENSG00000215269.6 | transcript | ENST00000445148.2 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GAGE12H_chrX_49574949_49592301 | 49586024 | A | ATTTATTT others(2): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02559.hp2 others(1): Show |
a0003a0006 | a0003c0003a0006c0006 | a0003c0003t0001a0006c0006t0001 | a0003c0003t0001g0058a0003c0003t0001g0065a0003c0003t0001g0069others(1): Show | 4 | 116 | 0.0345 | 9 | c.332 others(26): Show |
GAGE12H | ENSG00000224902.6 | transcript | ENST00000381722.2 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GAGE1_chrX_49594020_49613538 | 49595543 | T | TTTATTTA others(2): Show |
upstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 311 | 0.0032 | 9 | c.-35 others(20): Show |
GAGE1 | ENSG00000205777.19 | transcript | ENST00000381700.11 | protein_coding | 3476 | chrX | TogoVar | ||||||
GAGE1_chrX_49594020_49613538 | 49605908 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01952.hp1 HG02129.hp1 others(13): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0002c0002t0003a0002c0002t0014others(1): Show | a0001c0001t0001g0011a0001c0001t0001g0077a0001c0001t0001g0083others(9): Show | 16 | 311 | 0.0515 | 9 | c.332 others(22): Show |
GAGE1 | ENSG00000205777.19 | transcript | ENST00000381700.11 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GAGE2A_chrX_49584496_49601824 | 49586024 | A | ATTTATTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG02004.hp1 HG02486.hp1 others(5): Show |
a0002a0003a0004others(1): Show | a0002c0002a0003c0003a0004c0004others(1): Show | a0002c0002t0001a0003c0003t0001a0004c0004t0001others(1): Show | a0002c0002t0001g0006a0002c0002t0001g0020a0002c0002t0001g0065others(4): Show | 8 | 130 | 0.0615 | 9 | c.-35 others(20): Show |
GAGE2A | ENSG00000189064.9 | transcript | ENST00000362097.2 | protein_coding | 3471 | chrX | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241796495 | T | TGCTCAGT others(2): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG00639.hp1 others(48): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0009a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0009t0001others(5): Show | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0059others(38): Show | 51 | 314 | 0.1624 | 9 | c.30- others(24): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALK2_chr15_49165247_49336882 | 49228688 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18975.hp2 NA18998.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0009a0001c0001t0002g0017a0001c0001t0006g0005 | 3 | 348 | 0.0086 | 9 | c.267 others(26): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | chr15 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49324400 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01175.hp1 HG01256.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0020a0001c0002t0003 | a0001c0001t0002g0095a0001c0001t0020g0090a0001c0002t0003g0135others(4): Show | 7 | 348 | 0.0201 | 9 | c.117 others(28): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38703093 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01081.hp1 HG01258.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0076a0001c0001t0002g0111a0001c0001t0003g0080others(3): Show | 6 | 328 | 0.0183 | 9 | c.634 others(28): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154378317 | T | TATCATCA others(2): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01070.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0011a0001c0001t0002g0068a0001c0001t0002g0069others(15): Show | 18 | 236 | 0.0763 | 9 | c.754 others(26): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GALNT10_chr5_154185733_154425984 | 154393057 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00642.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0124a0001c0001t0003g0018a0001c0001t0003g0054others(18): Show | 21 | 236 | 0.0890 | 9 | c.105 others(28): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154014635 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00738.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013a0001c0001t0019others(7): Show | a0001c0001t0001g0008a0001c0001t0013g0161a0001c0001t0019g0076others(9): Show | 12 | 214 | 0.0561 | 9 | c.142 others(28): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154061040 | C | CTTCTTAG others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(169): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(61): Show | a0001c0001t0001g0008a0001c0001t0001g0011a0001c0001t0001g0023others(169): Show | 172 | 214 | 0.8037 | 9 | c.143 others(28): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154394077 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02818.hp1 HG02896.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0014a0001c0001t0016others(3): Show | a0001c0001t0009g0127a0001c0001t0014g0144a0001c0001t0016g0163others(3): Show | 6 | 214 | 0.0280 | 9 | c.115 others(28): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154417513 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02135.hp1 HG02280.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0011a0001c0001t0019others(4): Show | a0001c0001t0007g0192a0001c0001t0011g0099a0001c0001t0019g0074others(4): Show | 7 | 214 | 0.0327 | 9 | c.139 others(28): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154417517 | A | ATTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01891.hp2 HG02559.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(9): Show | a0001c0001t0003g0010a0001c0001t0006g0109a0001c0001t0007g0194others(11): Show | 14 | 214 | 0.0654 | 9 | c.139 others(28): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT13_chr2_153866922_154458979 | 154456191 | T | TTTGTTGT others(2): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 HG03195.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0043a0001c0001t0066others(1): Show | a0001c0001t0011g0093a0001c0001t0043g0213a0001c0001t0066g0006others(1): Show | 4 | 214 | 0.0187 | 9 | c.*56 others(20): Show |
GALNT13 | ENSG00000144278.15 | transcript | ENST00000392825.8 | protein_coding | 2213 | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 31048593 | C | CCTCCTCC others(2): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03098.hp1 HG03209.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0015others(1): Show | 4 | 226 | 0.0177 | 9 | c.130 others(28): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 31048598 | T | TCCTGCCT others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00609.hp1 others(83): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0010a0001c0001t0001g0013a0001c0001t0001g0014others(83): Show | 86 | 226 | 0.3805 | 9 | c.130 others(28): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
GALNT14_chr2_30905467_31143440 | 31138393 | T | TGCCGCCG others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp1 others(32): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0002t0002a0002c0003t0002others(2): Show | a0001c0001t0002g0192a0001c0001t0002g0194a0001c0001t0002g0195others(32): Show | 35 | 226 | 0.1549 | 9 | c.-31 others(18): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/15 | 308 | chr2 | TogoVar | |||||
GALNT15_chr3_16169680_16235165 | 16233094 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG02280.hp2 HG02965.hp2 others(7): Show |
a0001a0003a0009 | a0001c0002a0001c0016a0001c0021others(3): Show | a0001c0002t0005a0001c0016t0014a0001c0021t0020others(4): Show | a0001c0002t0005g0115a0001c0002t0005g0116a0001c0016t0014g0015others(7): Show | 10 | 388 | 0.0258 | 9 | c.*55 others(20): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2930 | chr3 | TogoVar | ||||||
GALNT16_chr14_69255158_69359466 | 69356554 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 HG02109.hp2 HG02165.hp1 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0015others(6): Show | a0001c0001t0001g0004a0001c0001t0001g0045a0001c0001t0001g0072others(17): Show | 20 | 306 | 0.0654 | 9 | c.*43 others(20): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 2089 | chr14 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71127155 | C | CTTTCTTT others(2): Show |
upstream_gene_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00735.hp1 others(19): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0031a0001c0001t0001g0032a0001c0001t0001g0034others(19): Show | 22 | 76 | 0.2895 | 9 | c.-56 others(20): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 4988 | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71216065 | A | AATAATAA others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00642.hp2 HG00738.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0003g0002others(18): Show | 21 | 76 | 0.2763 | 9 | c.238 others(28): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71364938 | A | ATTTTTAT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00438.hp2 others(53): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0034a0001c0001t0001g0039a0001c0001t0001g0041others(53): Show | 56 | 76 | 0.7368 | 9 | c.423 others(28): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71449108 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00438.hp1 HG00642.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0003g0011a0001c0001t0004g0033a0001c0001t0006g0066others(5): Show | 8 | 76 | 0.1053 | 9 | c.962 others(28): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71668516 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG00741.hp1 HG00741.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(3): Show | a0001c0001t0001g0032a0001c0001t0001g0034a0001c0001t0001g0044others(6): Show | 9 | 76 | 0.1184 | 9 | c.126 others(28): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71718005 | G | GTTAATAT others(2): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG01106.hp2 HG01258.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0032a0001c0001t0003g0001a0001c0001t0003g0003others(7): Show | 10 | 76 | 0.1316 | 9 | c.*58 others(20): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 4407 | chr7 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11284908 | G | GTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00733.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0111a0001c0001t0001g0146a0001c0001t0001g0173others(11): Show | 14 | 260 | 0.0539 | 9 | c.167 others(28): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 10/10 | chr11 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11614362 | A | AGAGGAGG others(2): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02451.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0002others(2): Show | a0001c0001t0002g0018a0001c0001t0002g0028a0001c0001t0002g0044others(6): Show | 9 | 260 | 0.0346 | 9 | c.235 others(26): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
GALNT2_chr1_230062238_230287122 | 230252843 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00741.hp2 HG01175.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0009others(2): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0015others(7): Show | a0001c0001t0007g0062a0001c0001t0007g0063a0001c0001t0008g0298others(9): Show | 12 | 324 | 0.0370 | 9 | c.100 others(28): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GALNT3_chr2_165742588_165799247 | 165769407 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00673.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0077a0001c0001t0001g0082a0001c0001t0001g0089others(19): Show | 24 | 386 | 0.0622 | 9 | c.515 others(24): Show |
GALNT3 | ENSG00000115339.14 | transcript | ENST00000392701.8 | protein_coding | 2/10 | chr2 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157256547 | T | TAAAAAAA others(2): Show |
upstream_gene_variant | MODIFIER | HG02083.hp1 NA18961.hp2 NA18965.hp1 others(4): Show |
a0003 | a0003c0004a0003c0007 | a0003c0004t0001a0003c0007t0001a0003c0007t0002others(1): Show | a0003c0004t0001g0216a0003c0004t0001g0230a0003c0007t0001g0222others(4): Show | 7 | 282 | 0.0248 | 9 | c.-15 others(20): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1157 | chr2 | TogoVar |