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 | 905456 | GCTCCGCC others(22): Show |
G | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02145.hp1 others(5): Show |
a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0098a0001c0008t0001g0099a0001c0008t0001g0100others(5): Show | 8 | 390 | 0.0205 | -29 | c.383 others(44): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 4/27 | chr4 | TogoVar | ||||||
GAK_chr4_844277_937316 | 913973 | CCCCCACA others(22): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(126): Show |
a0001a0004a0005others(7): Show | a0001c0001a0001c0004a0001c0008others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(20): Show | a0001c0001t0001g0038a0001c0001t0001g0059a0001c0001t0001g0060others(124): Show | 129 | 390 | 0.3308 | -29 | c.146 others(44): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | ||||||
GAK_chr4_844277_937316 | 914066 | ACACACAC others(22): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02602.hp2 HG02647.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0005t0002others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0020others(4): Show | 7 | 390 | 0.0180 | -29 | c.146 others(44): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | ||||||
GAK_chr4_844277_937316 | 914504 | CCCACACA others(22): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG00673.hp1 others(21): Show |
a0001a0014a0021 | a0001c0002a0001c0005a0001c0033others(2): Show | a0001c0002t0001a0001c0005t0002a0001c0033t0001others(2): Show | a0001c0002t0001g0024a0001c0002t0001g0025a0001c0002t0001g0026others(21): Show | 24 | 390 | 0.0615 | -29 | c.146 others(44): Show |
GAK | ENSG00000178950.18 | transcript | ENST00000314167.9 | protein_coding | 1/27 | chr4 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805964 | CCTCCCTC others(22): Show |
C | downstream_gene_variant | MODIFIER | NA18990.hp1 NA19064.hp2 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0008a0003c0003t0001g0235 | 2 | 314 | 0.0064 | -29 | c.*17 others(40): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1678 | chr2 | TogoVar | ||||||
GAL3ST2_chr2_241771822_241809287 | 241805965 | CTCCCTCC others(22): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(2): Show | a0001c0001t0001g0184a0001c0001t0001g0205a0001c0001t0001g0214others(6): Show | 9 | 314 | 0.0287 | -29 | c.*18 others(40): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1679 | chr2 | TogoVar | ||||||
GAL3ST3_chr11_66035765_66054161 | 66052103 | CGCCGGCC others(22): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0003 | 1 | 394 | 0.0025 | -29 | c.-32 others(40): Show |
GAL3ST3 | ENSG00000175229.7 | transcript | ENST00000312006.5 | protein_coding | 2943 | chr11 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38675524 | TTGTTTTT others(22): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00621.hp2 others(30): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(3): Show | a0001c0001t0001g0009a0001c0001t0001g0123a0001c0001t0001g0142others(30): Show | 33 | 328 | 0.1006 | -29 | c.191 others(44): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38675528 | TTTTTTTT others(22): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG02647.hp2 HG02717.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0170a0001c0001t0002g0171a0001c0001t0002g0172others(4): Show | 7 | 328 | 0.0213 | -29 | c.191 others(44): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38675530 | TTTTTTTT others(22): Show |
T | intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 328 | 0.0031 | -29 | c.191 others(44): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALM_chr2_38661114_38739765 | 38703066 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 328 | 0.0031 | -29 | c.634 others(48): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GALNT11_chr7_152020674_152127340 | 152113712 | CTTTTTTT others(22): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(77): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0102others(76): Show | 80 | 284 | 0.2817 | -29 | c.123 others(46): Show |
GALNT11 | ENSG00000178234.13 | transcript | ENST00000430044.7 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
GALNT1_chr18_35576740_35716834 | 35581632 | GCGGGGCG others(22): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(306): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(292): Show | 309 | 310 | 0.9968 | -29 | c.-33 others(38): Show |
GALNT1 | ENSG00000141429.14 | transcript | ENST00000269195.6 | protein_coding | 107 | chr18 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172405423 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG02630.hp1 HG02965.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008 | a0001c0001t0001g0015a0001c0001t0004g0013a0001c0001t0008g0010 | 3 | 40 | 0.0750 | -29 | c.553 others(48): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172405425 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0038 | 1 | 40 | 0.0250 | -29 | c.553 others(48): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALNTL6_chr4_171808404_173046559 | 172405427 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 40 | 0.0250 | -29 | c.553 others(48): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
GALR3_chr22_37818382_37830485 | 37819993 | GGCCTTTG others(22): Show |
G | upstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 402 | 0.0025 | -29 | c.-34 others(40): Show |
GALR3 | ENSG00000128310.3 | transcript | ENST00000249041.3 | protein_coding | 3388 | chr22 | TogoVar | ||||||
GALT_chr9_34641675_34656035 | 34644302 | TATATATA others(22): Show |
T | upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 416 | 0.0024 | -29 | c.-24 others(40): Show |
GALT | ENSG00000213930.12 | transcript | ENST00000378842.8 | protein_coding | 2372 | chr9 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125300039 | ATATATAT others(22): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0001a0001c0001t0009g0003 | 2 | 340 | 0.0059 | -29 | c.185 others(44): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 4/27 | chr9 | TogoVar | ||||||
GARRE1_chr19_34249554_34360566 | 34290874 | CTTTTTTT others(22): Show |
C | intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0311 | 1 | 326 | 0.0031 | -29 | c.-79 others(48): Show |
GARRE1 | ENSG00000166398.14 | transcript | ENST00000299505.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
GATA5_chr20_62458497_62480995 | 62477254 | CTTTCTTT others(22): Show |
C | upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0219 | 1 | 382 | 0.0026 | -29 | c.-13 others(40): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1260 | chr20 | TogoVar | ||||||
GCGR_chr17_81799150_81819008 | 81817615 | TCCCCTGC others(22): Show |
T | downstream_gene_variant | MODIFIER | HG03139.hp1 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051a0001c0001t0001g0111 | 2 | 408 | 0.0049 | -29 | c.*39 others(40): Show |
GCGR | ENSG00000215644.10 | transcript | ENST00000400723.8 | protein_coding | 3608 | chr17 | TogoVar | ||||||
GCH1_chr14_54837017_54907826 | 54880663 | TATATATA others(22): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(116): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0021others(115): Show | 119 | 346 | 0.3439 | -29 | c.344 others(48): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | ||||||
GCNT3_chr15_59606783_59627723 | 59611037 | CCCCCTCC others(22): Show |
C | upstream_gene_variant | MODIFIER | HG01361.hp2 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0029 | a0001c0001t0002g0032a0001c0001t0029g0068 | 2 | 428 | 0.0047 | -29 | c.-11 others(40): Show |
GCNT3 | ENSG00000140297.13 | transcript | ENST00000396065.3 | protein_coding | 745 | chr15 | TogoVar | ||||||
GDF5_chr20_35428347_35443228 | 35435450 | TAAAAAAA others(22): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0056 | 1 | 360 | 0.0028 | -29 | c.632 others(44): Show |
GDF5 | ENSG00000125965.9 | transcript | ENST00000374369.8 | protein_coding | 1/1 | chr20 | TogoVar | ||||||
GDI1_chrX_154432154_154448467 | 154444684 | GCCCCTCG others(22): Show |
G | downstream_gene_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 283 | 0.0035 | -29 | c.*20 others(40): Show |
GDI1 | ENSG00000203879.12 | transcript | ENST00000447750.7 | protein_coding | 1218 | chrX | TogoVar | ||||||
GFPT1_chr2_69314780_69392227 | 69341067 | TCCTGCCT others(22): Show |
T | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0246 | 1 | 366 | 0.0027 | -29 | c.120 others(48): Show |
GFPT1 | ENSG00000198380.13 | transcript | ENST00000357308.9 | protein_coding | 13/19 | chr2 | TogoVar | ||||||
GGA2_chr16_23458542_23515494 | 23472156 | GCATCCAA others(22): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0006 | a0006c0009 | a0006c0009t0048 | a0006c0009t0048g0066 | 1 | 254 | 0.0039 | -29 | c.145 others(48): Show |
GGA2 | ENSG00000103365.15 | transcript | ENST00000309859.8 | protein_coding | 14/16 | chr16 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24605091 | TATAATAT others(22): Show |
T | intron_variant | MODIFIER | HG03688.hp2 HG03704.hp1 |
a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0411a0001c0006t0002g0412 | 2 | 426 | 0.0047 | -29 | c.-42 others(48): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
GIMAP4_chr7_150562390_150578953 | 150567348 | CCCTCACT others(22): Show |
C | upstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 454 | 0.0022 | -29 | c.-10 others(37): Show |
GIMAP4 | ENSG00000133574.10 | transcript | ENST00000255945.4 | protein_coding | 41 | chr7 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149562288 | ATATATAT others(22): Show |
A | upstream_gene_variant | MODIFIER | NA18944.hp2 NA18966.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0267a0001c0001t0001g0317 | 2 | 380 | 0.0053 | -29 | c.-41 others(40): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4086 | chr6 | TogoVar | ||||||
GINM1_chr6_149561375_149596748 | 149562290 | ATATATAT others(22): Show |
A | upstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 380 | 0.0026 | -29 | c.-41 others(40): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4084 | chr6 | TogoVar | ||||||
GINS4_chr8_41524261_41550030 | 41534813 | ACCTCTGC others(22): Show |
A | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 426 | 0.0024 | -29 | c.97- others(44): Show |
GINS4 | ENSG00000147536.12 | transcript | ENST00000276533.4 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
GKN2_chr2_68940232_68957893 | 68957506 | AATATGTA others(22): Show |
A | upstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 466 | 0.0022 | -29 | c.-46 others(40): Show |
GKN2 | ENSG00000183607.10 | transcript | ENST00000328895.9 | protein_coding | 4614 | chr2 | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134308471 | CAAATACC others(22): Show |
C | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0150 | 1 | 422 | 0.0024 | -29 | c.962 others(46): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
GLB1_chr3_32991617_33102146 | 33094959 | CCAGCACT others(22): Show |
C | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202 | 1 | 394 | 0.0025 | -29 | c.75+ others(44): Show |
GLB1 | ENSG00000170266.16 | transcript | ENST00000307363.10 | protein_coding | 1/15 | chr3 | TogoVar | ||||||
GLG1_chr16_74442440_74612114 | 74470310 | CTCCCTCC others(22): Show |
C | intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0161 | 1 | 342 | 0.0029 | -29 | c.223 others(46): Show |
GLG1 | ENSG00000090863.12 | transcript | ENST00000422840.7 | protein_coding | 15/25 | chr16 | TogoVar | ||||||
GLIS1_chr1_53501239_53744164 | 53666764 | GGCAGGTC others(22): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02965.hp2 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0004a0002c0002t0005a0004c0004t0009others(2): Show | a0001c0001t0004g0101a0002c0002t0005g0103a0004c0004t0009g0005others(2): Show | 5 | 236 | 0.0212 | -29 | c.260 others(48): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
GLIS3_chr9_3819127_4305068 | 3976795 | CAAAAAAA others(22): Show |
C | intron_variant | MODIFIER | HG02132.hp2 NA18946.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0072a0002c0002t0024 | a0001c0001t0072g0137a0002c0002t0024g0093 | 2 | 188 | 0.0106 | -29 | c.171 others(50): Show |
GLIS3 | ENSG00000107249.24 | transcript | ENST00000381971.8 | protein_coding | 4/10 | chr9 | TogoVar | ||||||
GLP2R_chr17_9820924_9897099 | 9879262 | AAAATAAA others(22): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01243.hp2 others(18): Show |
a0001a0003a0008 | a0001c0001a0003c0004a0008c0010 | a0001c0001t0001a0001c0001t0009a0001c0001t0013others(4): Show | a0001c0001t0001g0009a0001c0001t0001g0013a0001c0001t0001g0040others(17): Show | 21 | 380 | 0.0553 | -29 | c.114 others(48): Show |
GLP2R | ENSG00000065325.13 | transcript | ENST00000262441.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
GLS_chr2_190875821_190970552 | 190918909 | AACATTTA others(22): Show |
A | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0233 | 1 | 380 | 0.0026 | -29 | c.103 others(48): Show |
GLS | ENSG00000115419.14 | transcript | ENST00000320717.8 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
GLTPD2_chr17_4783964_4795589 | 4785138 | AGGCAGGA others(22): Show |
A | upstream_gene_variant | MODIFIER | HG00609.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 460 | 0.0022 | -29 | c.-38 others(40): Show |
GLTPD2 | ENSG00000182327.8 | transcript | ENST00000331264.8 | protein_coding | 3825 | chr17 | TogoVar | ||||||
GLUD1_chr10_87045202_87099843 | 87079927 | CCCCTCTC others(22): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0126 | 1 | 334 | 0.0030 | -29 | c.446 others(46): Show |
GLUD1 | ENSG00000148672.10 | transcript | ENST00000277865.5 | protein_coding | 1/12 | chr10 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 1652596 | ATTATATA others(22): Show |
A | intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 166 | 0.0060 | -29 | c.988 others(48): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 9/10 | chr6 | TogoVar | ||||||
GMEB2_chr20_63582605_63632101 | 63599177 | CCCGCTCC others(22): Show |
C | intron_variant | MODIFIER | HG02809.hp1 HG02895.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0005 | a0001c0005t0003a0001c0005t0008a0001c0005t0025 | a0001c0005t0003g0112a0001c0005t0008g0264a0001c0005t0008g0265others(2): Show | 5 | 330 | 0.0152 | -29 | c.358 others(46): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 4/9 | chr20 | TogoVar | ||||||
GMEB2_chr20_63582605_63632101 | 63599203 | GTGGCCGC others(22): Show |
G | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0004 | a0001c0004t0018 | a0001c0004t0018g0092 | 1 | 330 | 0.0030 | -29 | c.358 others(46): Show |
GMEB2 | ENSG00000101216.11 | transcript | ENST00000370077.2 | protein_coding | 4/9 | chr20 | TogoVar | ||||||
GMFB_chr14_54469485_54493980 | 54489519 | ACACACAC others(22): Show |
A | upstream_gene_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 354 | 0.0028 | -29 | c.-62 others(38): Show |
GMFB | ENSG00000197045.14 | transcript | ENST00000358056.8 | protein_coding | 540 | chr14 | TogoVar | ||||||
GMPR_chr6_16233587_16300549 | 16251279 | AGCCAGAC others(22): Show |
A | intron_variant | MODIFIER | HG00597.hp1 | a0005 | a0005c0013 | a0005c0013t0011 | a0005c0013t0011g0256 | 1 | 344 | 0.0029 | -29 | c.291 others(44): Show |
GMPR | ENSG00000137198.10 | transcript | ENST00000259727.5 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
GNA15_chr19_3131033_3168749 | 3135836 | AAAAAAAA others(22): Show |
A | upstream_gene_variant | MODIFIER | NA18999.hp2 NA19090.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006a0001c0002t0001g0171 | 2 | 450 | 0.0044 | -29 | c.-61 others(38): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 196 | chr19 | TogoVar | ||||||
GNA15_chr19_3131033_3168749 | 3135838 | AAAAAAAT others(22): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(188): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0007others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0008others(183): Show | 191 | 450 | 0.4244 | -29 | c.-61 others(38): Show |
GNA15 | ENSG00000060558.4 | transcript | ENST00000262958.4 | protein_coding | 194 | chr19 | TogoVar |