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 | 26635010 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00280.hp1 HG02300.hp2 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0183a0001c0001t0002g0037a0001c0001t0002g0105 | 3 | 204 | 0.0147 | 17 | c.241 others(36): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27001888 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0061 | 1 | 92 | 0.0109 | 17 | c.202 others(36): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27062434 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03209.hp2 NA19240.hp2 |
a0001 | a0001c0004a0001c0005a0001c0009 | a0001c0004t0030a0001c0005t0002a0001c0009t0002 | a0001c0004t0030g0063a0001c0005t0002g0067a0001c0009t0002g0089 | 3 | 92 | 0.0326 | 17 | c.270 others(36): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27307123 | A | AGGTTTAT others(10): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0061 | 1 | 92 | 0.0109 | 17 | c.271 others(36): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 3/9 | chr15 | TogoVar | ||||||
GABRG3_chr15_26966181_27546984 | 27348155 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01496.hp1 HG01884.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0021a0001c0002t0035others(6): Show | a0001c0001t0001g0073a0001c0001t0021g0072a0001c0002t0035g0019others(7): Show | 10 | 92 | 0.1087 | 17 | c.574 others(36): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRG3_chr15_26966181_27546984 | 27518195 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0075 | 1 | 92 | 0.0109 | 17 | c.713 others(34): Show |
GABRG3 | ENSG00000182256.13 | transcript | ENST00000615808.5 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GABRR1_chr6_89172504_89222358 | 89196875 | G | GAAAGAAA others(10): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02523.hp2 NA18966.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003a0001c0001t0002g0009a0001c0001t0002g0019others(1): Show | 4 | 25 | 0.1600 | 17 | c.572 others(34): Show |
GABRR1 | ENSG00000146276.13 | transcript | ENST00000454853.7 | protein_coding | 5/9 | chr6 | TogoVar | ||||||
GAD2_chr10_26211774_26309558 | 26218551 | T | TCTCCACA others(10): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0225 | 1 | 294 | 0.0034 | 17 | c.287 others(32): Show |
GAD2 | ENSG00000136750.13 | transcript | ENST00000376261.8 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
GADL1_chr3_30721197_30899661 | 30805734 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02717.hp2 NA18984.hp1 NA18986.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0082a0001c0001t0003g0019a0001c0001t0003g0070others(1): Show | 4 | 282 | 0.0142 | 17 | c.105 others(36): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 11/14 | chr3 | TogoVar | ||||||
GADL1_chr3_30721197_30899661 | 30839514 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp1 HG01243.hp2 others(8): Show |
a0001a0011 | a0001c0001a0001c0010a0011c0013 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0104a0001c0001t0004g0106a0001c0001t0004g0110others(8): Show | 11 | 282 | 0.0390 | 17 | c.787 others(32): Show |
GADL1 | ENSG00000144644.15 | transcript | ENST00000282538.10 | protein_coding | 8/14 | chr3 | TogoVar | ||||||
GAK_chr4_844277_937316 | 902596 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01358.hp2 HG02572.hp2 |
a0001a0003 | a0001c0002a0003c0006 | a0001c0002t0003a0003c0006t0001 | a0001c0002t0003g0259a0003c0006t0001g0162 | 2 | 390 | 0.0051 | 17 | c.525 others(34): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 5/27 | chr4 | TogoVar | ||||||
GAL3ST1_chr22_30549635_30579665 | 30574607 | G | GCCGCGCC others(10): Show |
5_prime_UTR_variant | MODIFIER | HG02523.hp1 | a0002 | a0002c0002 | a0002c0002t0008 | a0002c0002t0008g0316 | 1 | 452 | 0.0022 | 17 | c.-27 others(26): Show |
GAL3ST1 | ENSG00000128242.13 | transcript | ENST00000406361.6 | protein_coding | 1/4 | 17216 | chr22 | TogoVar | |||||
GAL3ST4_chr7_100154244_100173617 | 100172465 | A | ATTTTTTT others(10): Show |
upstream_gene_variant | MODIFIER | HG02738.hp2 HG03654.hp1 homoSapiens_chm13v2.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0011a0002c0002t0001g0033 | 3 | 402 | 0.0075 | 17 | c.-41 others(28): Show |
GAL3ST4 | ENSG00000197093.11 | transcript | ENST00000360039.9 | protein_coding | 3849 | chr7 | TogoVar | ||||||
GALK2_chr15_49165247_49336882 | 49228687 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0067 | 1 | 348 | 0.0029 | 17 | c.267 others(34): Show |
GALK2 | ENSG00000156958.15 | transcript | ENST00000560031.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38703092 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00735.hp2 NA19090.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0114a0002c0002t0001g0278 | 2 | 328 | 0.0061 | 17 | c.634 others(36): 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(10): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 328 | 0.0031 | 17 | c.634 others(36): 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(10): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0291 | 1 | 328 | 0.0031 | 17 | c.634 others(36): 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(10): Show |
intron_variant | MODIFIER | NA18961.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005a0001c0001t0001g0069 | 2 | 328 | 0.0061 | 17 | c.634 others(36): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | chr2 | TogoVar | ||||||
GALNT10_chr5_154185733_154425984 | 154378315 | T | TTATCATC others(10): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0119 | 1 | 236 | 0.0042 | 17 | c.754 others(34): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GALNT10_chr5_154185733_154425984 | 154396332 | G | GCATCCAC others(10): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0070 | 1 | 236 | 0.0042 | 17 | c.105 others(36): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GALNT10_chr5_154185733_154425984 | 154410955 | T | TGAACTGC others(10): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0026 | 1 | 236 | 0.0042 | 17 | c.138 others(36): Show |
GALNT10 | ENSG00000164574.16 | transcript | ENST00000297107.11 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GALNT11_chr7_152020674_152127340 | 152113712 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 284 | 0.0035 | 17 | c.123 others(34): Show |
GALNT11 | ENSG00000178234.13 | transcript | ENST00000430044.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT12_chr9_98802670_98855081 | 98821624 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(72): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(8): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(68): Show | 75 | 376 | 0.1995 | 17 | c.372 others(34): Show |
GALNT12 | ENSG00000119514.7 | transcript | ENST00000375011.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GALNT14_chr2_30905467_31143440 | 31038085 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02004.hp2 HG02615.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0077a0001c0001t0001g0091a0001c0001t0001g0093others(6): Show | 9 | 226 | 0.0398 | 17 | c.130 others(36): Show |
GALNT14 | ENSG00000158089.15 | transcript | ENST00000349752.10 | protein_coding | 1/14 | chr2 | TogoVar | ||||||
GALNT15_chr3_16169680_16235165 | 16232518 | A | ATATATAT others(10): Show |
downstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 388 | 0.0026 | 17 | c.*50 others(28): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2354 | chr3 | TogoVar | ||||||
GALNT15_chr3_16169680_16235165 | 16233094 | C | CTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 388 | 0.0026 | 17 | c.*55 others(28): Show |
GALNT15 | ENSG00000131386.20 | transcript | ENST00000339732.10 | protein_coding | 2930 | chr3 | TogoVar | ||||||
GALNT16_chr14_69255158_69359466 | 69264819 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01496.hp1 HG01934.hp2 others(14): Show |
a0001a0003a0007 | a0001c0001a0001c0003a0001c0016others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0009a0001c0001t0001g0152a0001c0001t0001g0155others(14): Show | 17 | 306 | 0.0556 | 17 | c.177 others(34): Show |
GALNT16 | ENSG00000100626.17 | transcript | ENST00000448469.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
GALNT17_chr7_71127144_71718599 | 71131833 | G | GCGCGCGT others(10): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 1 | 76 | 0.0132 | 17 | c.-97 others(26): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 310 | chr7 | TogoVar | ||||||
GALNT17_chr7_71127144_71718599 | 71297526 | G | GGCTGAAG others(10): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00642.hp1 HG00735.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0041a0001c0001t0003g0001a0001c0001t0005g0051others(18): Show | 21 | 76 | 0.2763 | 17 | c.239 others(36): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT18_chr11_11265877_11627005 | 11269280 | T | TTTTTTTT others(10): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0006 | 1 | 260 | 0.0039 | 17 | c.*18 others(28): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 1596 | chr11 | TogoVar | ||||||
GALNT18_chr11_11265877_11627005 | 11620336 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0043 | 1 | 260 | 0.0039 | 17 | c.235 others(34): Show |
GALNT18 | ENSG00000110328.6 | transcript | ENST00000227756.5 | protein_coding | 1/10 | chr11 | TogoVar | ||||||
GALNT2_chr1_230062238_230287122 | 230092185 | T | TGTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0276 | 1 | 324 | 0.0031 | 17 | c.126 others(36): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 1/15 | chr1 | TogoVar | ||||||
GALNT2_chr1_230062238_230287122 | 230222031 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 HG00621.hp1 others(98): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(33): Show | a0001c0001t0001g0134a0001c0001t0001g0149a0001c0001t0001g0153others(98): Show | 101 | 324 | 0.3117 | 17 | c.375 others(36): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
GALNT5_chr2_157252705_157323491 | 157256569 | A | AAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG00597.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0231 | 1 | 282 | 0.0036 | 17 | c.-15 others(28): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1135 | chr2 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157256569 | A | AAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0005 | a0002c0005t0044 | a0002c0005t0044g0169 | 1 | 282 | 0.0036 | 17 | c.-15 others(28): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1135 | chr2 | TogoVar | ||||||
GALNT5_chr2_157252705_157323491 | 157256569 | A | AAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0005 | a0002c0005t0019 | a0002c0005t0019g0200 | 1 | 282 | 0.0036 | 17 | c.-15 others(28): Show |
GALNT5 | ENSG00000136542.9 | transcript | ENST00000259056.5 | protein_coding | 1135 | chr2 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132295810 | G | GGAACAGG others(10): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp2 others(64): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(15): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(18): Show | a0001c0001t0001g0011a0001c0001t0001g0017a0001c0001t0001g0019others(64): Show | 67 | 183 | 0.3661 | 17 | c.239 others(34): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132296036 | A | AAACAGGG others(10): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0001a0001c0014a0001c0025 | a0001c0001t0001a0001c0014t0003a0001c0025t0012 | a0001c0001t0001g0094a0001c0014t0003g0074a0001c0014t0003g0153others(1): Show | 4 | 183 | 0.0219 | 17 | c.239 others(34): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 1/10 | chr12 | TogoVar | ||||||
GALNTL5_chr7_151951446_152024929 | 151990580 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00438.hp1 others(113): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0019others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0012others(112): Show | 116 | 384 | 0.3021 | 17 | c.658 others(34): Show |
GALNTL5 | ENSG00000106648.15 | transcript | ENST00000392800.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172504159 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0031 | 1 | 40 | 0.0250 | 17 | c.553 others(38): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172552837 | T | TAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0020 | 1 | 40 | 0.0250 | 17 | c.553 others(38): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALT_chr9_34641675_34656035 | 34644352 | T | TATATATA others(10): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002 | 1 | 416 | 0.0024 | 17 | c.-23 others(28): Show |
GALT | ENSG00000213930.12 | transcript | ENST00000378842.8 | protein_coding | 2322 | chr9 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125286791 | A | ATTTTCTT others(10): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0006 | a0006c0011 | a0006c0011t0005 | a0006c0011t0005g0337 | 1 | 340 | 0.0029 | 17 | c.-14 others(36): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GAPVD1_chr9_125256826_125372207 | 125291709 | G | GACCCATA others(10): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229 | 1 | 340 | 0.0029 | 17 | c.-14 others(36): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GAPVD1_chr9_125256826_125372207 | 125293854 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0010 | a0001c0010t0006 | a0001c0010t0006g0167 | 1 | 340 | 0.0029 | 17 | c.-14 others(36): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GAPVD1_chr9_125256826_125372207 | 125293856 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG00558.hp1 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184a0001c0001t0001g0188 | 2 | 340 | 0.0059 | 17 | c.-14 others(36): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GAPVD1_chr9_125256826_125372207 | 125300023 | G | GAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00438.hp1 NA18612.hp2 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177a0001c0001t0001g0274a0001c0001t0001g0280 | 3 | 340 | 0.0088 | 17 | c.185 others(32): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GAREM1_chr18_32258522_32475882 | 32364027 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0003 | a0003c0016 | a0003c0016t0002 | a0003c0016t0002g0153 | 1 | 192 | 0.0052 | 17 | c.262 others(36): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
GAREM1_chr18_32258522_32475882 | 32364028 | G | GTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02451.hp2 HG02615.hp1 others(5): Show |
a0001a0003 | a0001c0003a0001c0020a0003c0007 | a0001c0003t0003a0001c0003t0012a0001c0020t0003others(1): Show | a0001c0003t0003g0114a0001c0003t0003g0178a0001c0003t0003g0185others(5): Show | 8 | 192 | 0.0417 | 17 | c.262 others(36): Show |
GAREM1 | ENSG00000141441.16 | transcript | ENST00000269209.7 | protein_coding | 2/5 | chr18 | TogoVar | ||||||
GAREM2_chr2_26168088_26194663 | 26178889 | A | AGGAGGCG others(10): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 306 | 0.0033 | 17 | c.253 others(34): Show |
GAREM2 | ENSG00000157833.13 | transcript | ENST00000401533.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |