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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GEN1_chr2_17749138_17793946 | 17778260 | A | ATGTGTGT others(25): Show |
intron_variant | MODIFIER | HG02717.hp2 HG02976.hp2 NA19240.hp2 |
a0010 | a0010c0010 | a0010c0010t0002 | a0010c0010t0002g0028a0010c0010t0002g0096 | 3 | 318 | 0.0094 | 32 | c.126 others(49): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GEN1_chr2_17749138_17793946 | 17778350 | G | ATGTGTAC others(25): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03209.hp1 |
a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0027 | 2 | 318 | 0.0063 | 32 | c.126 others(49): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 12/13 | chr2 | TogoVar | ||||||
GEN1_chr2_17749138_17793946 | 17778379 | T | TATGTGTG others(25): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0008 | a0008c0008 | a0008c0008t0012 | a0008c0008t0012g0104 | 1 | 318 | 0.0031 | 32 | c.126 others(49): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GEN1_chr2_17749138_17793946 | 17778403 | T | TACACACA others(25): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0086 | 1 | 318 | 0.0031 | 32 | c.126 others(49): Show |
GEN1 | ENSG00000178295.15 | transcript | ENST00000381254.7 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GFI1B_chr9_132973694_132996687 | 132990242 | C | CTCATTTG others(25): Show |
intron_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 476 | 0.0021 | 32 | c.814 others(47): Show |
GFI1B | ENSG00000165702.15 | transcript | ENST00000372122.4 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
GFOD1_chr6_13352830_13492600 | 13390780 | A | AAAGGAAG others(25): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0207 | 1 | 230 | 0.0044 | 32 | c.254 others(51): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | ||||||
GFOD1_chr6_13352830_13492600 | 13390810 | A | AGGAAGGA others(25): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0091a0001c0001t0102 | a0001c0001t0091g0092a0001c0001t0102g0090 | 2 | 230 | 0.0087 | 32 | c.254 others(51): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | ||||||
GFOD1_chr6_13352830_13492600 | 13409088 | G | GGAAAGAA others(25): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02129.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0067a0001c0001t0087a0001c0001t0122others(1): Show | a0001c0001t0067g0159a0001c0001t0087g0154a0001c0001t0122g0168others(1): Show | 4 | 230 | 0.0174 | 32 | c.254 others(51): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | ||||||
GFOD1_chr6_13352830_13492600 | 13409140 | A | AGAAAGAA others(25): Show |
intron_variant | MODIFIER | HG02257.hp1 HG03471.hp2 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0117 | a0001c0001t0004g0005a0001c0001t0004g0015a0001c0001t0117g0173 | 3 | 230 | 0.0130 | 32 | c.254 others(51): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | ||||||
GFOD1_chr6_13352830_13492600 | 13409215 | G | GAAAGAAA others(25): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0143 | a0001c0001t0143g0230 | 1 | 230 | 0.0044 | 32 | c.254 others(51): Show |
GFOD1 | ENSG00000145990.11 | transcript | ENST00000379287.4 | protein_coding | 1/1 | chr6 | TogoVar | ||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(25): Show |
downstream_gene_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0272 | 1 | 412 | 0.0024 | 32 | c.*41 others(43): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar | ||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(25): Show |
downstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0013 | 1 | 412 | 0.0024 | 32 | c.*41 others(43): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar | ||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(25): Show |
downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0273 | 1 | 412 | 0.0024 | 32 | c.*41 others(43): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar | ||||||
GFPT2_chr5_180295698_180358336 | 180297458 | A | AAAAAAAA others(25): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0267 | 1 | 412 | 0.0024 | 32 | c.*41 others(43): Show |
GFPT2 | ENSG00000131459.13 | transcript | ENST00000253778.13 | protein_coding | 3239 | chr5 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21694071 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0002 | a0002c0002t0044 | a0002c0002t0044g0308 | 1 | 322 | 0.0031 | 32 | c.127 others(49): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21694075 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01891.hp2 HG02145.hp2 others(7): Show |
a0002 | a0002c0002a0002c0005a0002c0007 | a0002c0002t0002a0002c0002t0006a0002c0002t0028others(3): Show | a0002c0002t0002g0019a0002c0002t0002g0076a0002c0002t0002g0094others(7): Show | 10 | 322 | 0.0311 | 32 | c.127 others(49): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
GGA2_chr16_23458542_23515494 | 23467387 | A | AACACACA others(25): Show |
3_prime_UTR_variant | MODIFIER | HG03195.hp2 NA20300.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0040a0002c0003t0039 | a0001c0001t0040g0055a0002c0003t0039g0062 | 2 | 254 | 0.0079 | 32 | c.*17 others(41): Show |
GGA2 | ENSG00000103365.15 | transcript | ENST00000309859.8 | protein_coding | 17/17 | 202 | chr16 | TogoVar | |||||
GGNBP2_chr17_36539919_36594848 | 36575648 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0198 | 1 | 357 | 0.0028 | 32 | c.642 others(49): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GGT1_chr22_24598193_24633996 | 24605023 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0041 | 1 | 426 | 0.0024 | 32 | c.-42 others(51): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GGTA1_chr9_121450040_121504844 | 121491030 | G | GCAGACAG others(25): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01261.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0218a0001c0001t0001g0219a0001c0001t0001g0220others(7): Show | 10 | 338 | 0.0296 | 32 | c.-10 others(49): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
GHRHR_chr7_30958953_30984528 | 30968640 | C | CCCTCCCT others(25): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0004 | a0004c0005 | a0004c0005t0003 | a0004c0005t0003g0085 | 1 | 422 | 0.0024 | 32 | c.58- others(45): Show |
GHRHR | ENSG00000106128.19 | transcript | ENST00000326139.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42474295 | G | GAAAGAAA others(25): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01975.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0003 | a0002c0002t0001g0013a0003c0003t0003g0003 | 2 | 210 | 0.0095 | 32 | c.-12 others(51): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42474295 | G | GAAAGAAA others(25): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01515.hp1 NA20129.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0003 | a0001c0001t0002g0017a0003c0003t0003g0014a0003c0003t0003g0029 | 3 | 210 | 0.0143 | 32 | c.-12 others(51): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42474295 | G | GAGAAAGA others(25): Show |
intron_variant | MODIFIER | HG02083.hp1 HG03486.hp2 NA18940.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0003 | a0002c0002t0001g0110a0003c0003t0003g0153a0003c0003t0003g0178 | 3 | 210 | 0.0143 | 32 | c.-12 others(51): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42534204 | A | ATGTATAT others(25): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0005 | a0005c0007 | a0005c0007t0018 | a0005c0007t0018g0185 | 1 | 210 | 0.0048 | 32 | c.-11 others(51): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GHR_chr5_42418439_42726878 | 42583878 | G | GATATATA others(25): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0022 | 1 | 210 | 0.0048 | 32 | c.70+ others(49): Show |
GHR | ENSG00000112964.14 | transcript | ENST00000230882.9 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
GIGYF1_chr7_100674507_100699250 | 100678121 | G | GCCCCCCC others(25): Show |
downstream_gene_variant | MODIFIER | NA19076.hp1 | a0012 | a0012c0016 | a0012c0016t0042 | a0012c0016t0042g0096 | 1 | 398 | 0.0025 | 32 | c.*35 others(43): Show |
GIGYF1 | ENSG00000146830.11 | transcript | ENST00000678049.1 | protein_coding | 1385 | chr7 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232692579 | G | GCCCCCAA others(25): Show |
upstream_gene_variant | MODIFIER | HG01496.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0257 | 1 | 376 | 0.0027 | 32 | c.-49 others(43): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 4751 | chr2 | TogoVar | ||||||
GIGYF2_chr2_232692331_232865605 | 232711705 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG01106.hp1 HG03942.hp1 |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0004 | a0002c0001t0002g0044a0002c0001t0004g0103 | 2 | 376 | 0.0053 | 32 | c.-44 others(49): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIGYF2_chr2_232692331_232865605 | 232836351 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02922.hp2 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0300a0001c0002t0012g0301 | 2 | 376 | 0.0053 | 32 | c.276 others(51): Show |
GIGYF2 | ENSG00000204120.16 | transcript | ENST00000373563.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GIMAP8_chr7_150445630_150484393 | 150452673 | G | GATATATA others(25): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0161 | 1 | 372 | 0.0027 | 32 | c.-29 others(49): Show |
GIMAP8 | ENSG00000171115.4 | transcript | ENST00000307271.4 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GIN1_chr5_103081000_103125138 | 103117581 | T | TATACACA others(25): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0184 | 1 | 322 | 0.0031 | 32 | c.-8+ others(47): Show |
GIN1 | ENSG00000145723.17 | transcript | ENST00000399004.7 | protein_coding | 1/7 | chr5 | TogoVar | ||||||
GIN1_chr5_103081000_103125138 | 103117581 | T | TATATACA others(25): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02155.hp1 NA18945.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0137a0002c0002t0002g0138a0002c0002t0002g0139others(5): Show | 8 | 322 | 0.0248 | 32 | c.-8+ others(47): Show |
GIN1 | ENSG00000145723.17 | transcript | ENST00000399004.7 | protein_coding | 1/7 | chr5 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149592667 | A | AAAAAAAA others(25): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0005 | a0005c0008 | a0005c0008t0015 | a0005c0008t0015g0054 | 1 | 380 | 0.0026 | 32 | c.*18 others(43): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 920 | chr6 | TogoVar | ||||||
GINS2_chr16_85671198_85693954 | 85685670 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02083.hp1 NA18982.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0133a0001c0001t0004g0255 | 2 | 470 | 0.0043 | 32 | c.205 others(49): Show |
GINS2 | ENSG00000131153.9 | transcript | ENST00000253462.8 | protein_coding | 2/4 | chr16 | TogoVar | ||||||
GJB6_chr13_20216962_20237319 | 20218592 | C | CTTCTTTC others(25): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0364 | 1 | 460 | 0.0022 | 32 | c.*41 others(43): Show |
GJB6 | ENSG00000121742.19 | transcript | ENST00000647029.1 | protein_coding | 3369 | chr13 | TogoVar | ||||||
GK5_chr3_142152527_142230585 | 142159851 | C | CTTTTTTT others(25): Show |
3_prime_UTR_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0154 | 1 | 272 | 0.0037 | 32 | c.*57 others(43): Show |
GK5 | ENSG00000175066.16 | transcript | ENST00000392993.7 | protein_coding | 16/16 | 5770 | chr3 | TogoVar | |||||
GKN1_chr2_68969636_68985976 | 68978271 | G | GGAAAGAA others(25): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0089 | 1 | 464 | 0.0022 | 32 | c.204 others(47): Show |
GKN1 | ENSG00000169605.7 | transcript | ENST00000377938.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GK_chrX_30648423_30736462 | 30704128 | T | TTATATAT others(25): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02293.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0091a0001c0001t0004g0175a0001c0001t0004g0176 | 3 | 286 | 0.0105 | 32 | c.851 others(49): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 11/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
GLA_chrX_101392803_101412925 | 101407461 | C | CGAGAGAG others(25): Show |
intron_variant | MODIFIER | NA18993.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0062 | 1 | 318 | 0.0031 | 32 | c.194 others(47): Show |
GLA | ENSG00000102393.15 | transcript | ENST00000218516.4 | protein_coding | 1/6 | chrX | TogoVar | ||||||
GLB1L2_chr11_134326988_134381324 | 134341931 | A | ACACCGGC others(25): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00438.hp1 others(82): Show |
a0001a0002a0008others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0044others(77): Show | 85 | 414 | 0.2053 | 32 | c.87- others(45): Show |
GLB1L2 | ENSG00000149328.16 | transcript | ENST00000535456.7 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GLB1_chr3_32991617_33102146 | 33031640 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0228 | 1 | 394 | 0.0025 | 32 | c.106 others(51): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 10/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33074369 | G | GAAGAAAG others(25): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 394 | 0.0025 | 32 | c.76- others(47): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33074373 | G | GAAGAAAG others(25): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0163 | 1 | 394 | 0.0025 | 32 | c.76- others(47): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33074381 | G | GAAGAAAG others(25): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02486.hp1 HG03704.hp2 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0004c0007t0001 | a0001c0001t0001g0031a0004c0007t0001g0354a0004c0007t0001g0355 | 3 | 394 | 0.0076 | 32 | c.76- others(47): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33074385 | G | GAAGAAAG others(25): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02886.hp1 HG03453.hp2 others(3): Show |
a0001a0003a0005 | a0001c0001a0001c0011a0003c0004others(1): Show | a0001c0001t0001a0001c0011t0001a0003c0004t0001others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0105others(3): Show | 6 | 394 | 0.0152 | 32 | c.76- others(47): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33074389 | G | GAAGAAAG others(25): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01361.hp2 HG01981.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0032a0001c0001t0001g0093others(13): Show | 16 | 394 | 0.0406 | 32 | c.76- others(47): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33074389 | G | GAAGGAAG others(25): Show |
intron_variant | MODIFIER | HG02273.hp2 NA18971.hp1 NA18980.hp1 |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0002c0002t0001a0002c0003t0001 | a0001c0001t0001g0073a0002c0002t0001g0363a0002c0003t0001g0273 | 3 | 394 | 0.0076 | 32 | c.76- others(47): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GLB1_chr3_32991617_33102146 | 33074389 | G | GAAGGAAG others(25): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02109.hp1 HG04204.hp2 |
a0002a0011 | a0002c0002a0011c0013 | a0002c0002t0001a0011c0013t0001 | a0002c0002t0001g0328a0002c0002t0001g0334a0011c0013t0001g0012 | 3 | 394 | 0.0076 | 32 | c.76- others(47): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GLDC_chr9_6527467_6650729 | 6599720 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0318 | 1 | 342 | 0.0029 | 32 | c.115 others(51): Show |
GLDC | ENSG00000178445.10 | transcript | ENST00000321612.8 | protein_coding | 8/24 | chr9 | TogoVar |