| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| FRMD3_chr9_83239622_83543401 | 83378450 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(87): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(34): Show | a0001c0001t0001g0103a0001c0001t0001g0113a0001c0001t0001g0136others(87): Show | 90 | 242 | 0.3719 | -52 | c.253 others(69): Show |
FRMD3 | ENSG00000172159.16 | transcript | ENST00000304195.8 | protein_coding | 2/13 | chr9 | TogoVar | ||||||
| FSTL4_chr5_133191455_133617541 | 133322249 | CCACCCAC others(45): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(61): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(19): Show | a0001c0001t0001g0049a0001c0001t0001g0050a0001c0001t0001g0060others(61): Show | 64 | 176 | 0.3636 | -52 | c.410 others(69): Show |
FSTL4 | ENSG00000053108.18 | transcript | ENST00000265342.12 | protein_coding | 4/15 | chr5 | TogoVar | ||||||
| FTHL17_chrX_31066233_31077041 | 31067395 | TATGCACA others(45): Show |
T | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01515.hp1 HG01517.hp2 others(25): Show |
a0001a0006 | a0001c0001a0001c0002a0006c0007 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0000a0001c0002t0001g0000a0001c0002t0002g0000others(1): Show | 28 | 336 | 0.0833 | -52 | c.*39 others(63): Show |
FTHL17 | ENSG00000132446.7 | transcript | ENST00000359202.5 | protein_coding | 3837 | chrX | TogoVar | ||||||
| FUNDC1_chrX_44518639_44547859 | 44531263 | CACACACA others(45): Show |
C | intron_variant | MODIFIER | HG02976.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0207a0001c0001t0002g0192 | 2 | 313 | 0.0064 | -52 | c.262 others(69): Show |
FUNDC1 | ENSG00000069509.6 | transcript | ENST00000378045.5 | protein_coding | 3/4 | chrX | TogoVar | ||||||
| FUT8_chr14_65407730_65749121 | 65526485 | CAGCACAC others(45): Show |
C | intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0261 | 1 | 374 | 0.0027 | -52 | c.-22 others(73): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| FUT8_chr14_65407730_65749121 | 65611184 | TACACACA others(45): Show |
T | intron_variant | MODIFIER | HG01261.hp2 HG02735.hp1 HG03834.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0001 | a0001c0001t0002g0113a0001c0001t0005g0042a0001c0001t0005g0060others(1): Show | 4 | 374 | 0.0107 | -52 | c.204 others(69): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| FUT8_chr14_65407730_65749121 | 65611209 | GCGCGCGC others(45): Show |
G | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 374 | 0.0027 | -52 | c.204 others(69): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| FUT8_chr14_65407730_65749121 | 65611211 | GCGCGCGC others(45): Show |
G | intron_variant | MODIFIER | HG01243.hp2 NA19085.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0010a0002c0004t0001 | a0001c0001t0010g0091a0002c0004t0001g0251 | 2 | 374 | 0.0054 | -52 | c.204 others(69): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| FUT8_chr14_65407730_65749121 | 65677124 | GTGTGTGT others(45): Show |
G | intron_variant | MODIFIER | HG01243.hp2 HG02572.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0089a0001c0001t0010g0090a0001c0001t0010g0091 | 3 | 374 | 0.0080 | -52 | c.835 others(69): Show |
FUT8 | ENSG00000033170.17 | transcript | ENST00000673929.1 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| FZD10_chr12_130157464_130170740 | 130157716 | CACATATA others(45): Show |
C | upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0000 | 1 | 450 | 0.0022 | -52 | c.-52 others(63): Show |
FZD10 | ENSG00000111432.5 | transcript | ENST00000229030.5 | protein_coding | 4747 | chr12 | TogoVar | ||||||
| G6PC2_chr2_168896291_168915000 | 168897568 | ATATATAA others(45): Show |
A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00438.hp1 others(12): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0003a0001c0001t0013a0005c0005t0003 | a0001c0001t0003g0008a0001c0001t0003g0065a0001c0001t0013g0008others(3): Show | 15 | 425 | 0.0353 | -52 | c.-37 others(63): Show |
G6PC2 | ENSG00000152254.11 | transcript | ENST00000375363.8 | protein_coding | 3722 | chr2 | TogoVar | ||||||
| GABRB3_chr15_26538552_26778066 | 26764167 | AAAAAAAA others(45): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG03540.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0022 | a0001c0001t0001g0016a0001c0003t0022g0014 | 2 | 204 | 0.0098 | -52 | c.240 others(69): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | ||||||
| GAGE12F_chrX_49555842_49573205 | 49559055 | TGAGCCTC others(45): Show |
T | upstream_gene_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0018 | 1 | 99 | 0.0101 | -52 | c.-19 others(63): Show |
GAGE12F | ENSG00000236362.9 | transcript | ENST00000440137.2 | protein_coding | 1786 | chrX | TogoVar | ||||||
| GALNT17_chr7_71127144_71718599 | 71701791 | ATGTGTGT others(45): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG01258.hp1 HG02040.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0037a0001c0001t0002g0015a0001c0001t0002g0024others(14): Show | 17 | 76 | 0.2237 | -52 | c.150 others(71): Show |
GALNT17 | ENSG00000185274.13 | transcript | ENST00000333538.10 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| GALNT2_chr1_230062238_230287122 | 230275985 | ATATATAC others(45): Show |
A | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0002 | a0001c0002t0051 | a0001c0002t0051g0280 | 1 | 324 | 0.0031 | -52 | c.156 others(71): Show |
GALNT2 | ENSG00000143641.10 | transcript | ENST00000366672.5 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| GARIN2_chr14_67184440_67228940 | 67193165 | CATCTATA others(45): Show |
C | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 332 | 0.0030 | -52 | c.-11 others(71): Show |
GARIN2 | ENSG00000172717.17 | transcript | ENST00000696955.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| GATA5_chr20_62458497_62480995 | 62477046 | TTTCTTTC others(45): Show |
T | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02602.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0003a0001c0004t0007 | a0001c0002t0003g0016a0001c0004t0007g0273 | 2 | 382 | 0.0052 | -52 | c.-11 others(63): Show |
GATA5 | ENSG00000130700.7 | transcript | ENST00000252997.3 | protein_coding | 1052 | chr20 | TogoVar | ||||||
| GGA1_chr22_37603834_37638564 | 37610592 | AGGCCTCT others(45): Show |
A | intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 370 | 0.0027 | -52 | c.43+ others(67): Show |
GGA1 | ENSG00000100083.19 | transcript | ENST00000343632.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| GGT1_chr22_24598193_24633996 | 24605036 | AAAATATG others(45): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00621.hp2 others(51): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002a0002c0002t0009others(3): Show | a0001c0001t0002g0361a0001c0001t0002g0362a0001c0001t0002g0389others(50): Show | 54 | 426 | 0.1268 | -52 | c.-42 others(71): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | chr22 | TogoVar | ||||||
| GGT1_chr22_24598193_24633996 | 24605410 | TATATAAT others(45): Show |
T | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 426 | 0.0024 | -52 | c.-42 others(71): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| GHDC_chr17_42184087_42199494 | 42199227 | TGTAACTC others(45): Show |
T | upstream_gene_variant | MODIFIER | NA19030.hp1 | a0004 | a0004c0013 | a0004c0013t0001 | a0004c0013t0001g0041 | 1 | 374 | 0.0027 | -52 | c.-49 others(63): Show |
GHDC | ENSG00000167925.17 | transcript | ENST00000587427.6 | protein_coding | 4734 | chr17 | TogoVar | ||||||
| GLIS1_chr1_53501239_53744164 | 53709359 | CATATACA others(45): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02809.hp2 NA18522.hp2 |
a0003a0004 | a0003c0003a0004c0026 | a0003c0003t0004a0004c0026t0003 | a0003c0003t0004g0131a0003c0003t0004g0132a0004c0026t0003g0006 | 3 | 236 | 0.0127 | -52 | c.259 others(71): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
| GNA14_chr9_77418079_77653322 | 77641095 | GGGGGGGA others(45): Show |
G | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 240 | 0.0042 | -52 | c.124 others(69): Show |
GNA14 | ENSG00000156049.7 | transcript | ENST00000341700.7 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
| GOLGA6L7_chr15_28836832_28853644 | 28850634 | AGAGAGGG others(45): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02257.hp1 NA18941.hp2 others(3): Show |
a0003a0011a0043others(1): Show | a0003c0003a0011c0021a0043c0022others(1): Show | a0003c0003t0002a0011c0021t0001a0043c0022t0005others(1): Show | a0003c0003t0002g0002a0003c0003t0002g0034a0011c0021t0001g0072others(2): Show | 6 | 422 | 0.0142 | -52 | c.-21 others(63): Show |
GOLGA6L7 | ENSG00000261649.7 | transcript | ENST00000567390.7 | protein_coding | 1991 | chr15 | TogoVar | ||||||
| GOLGB1_chr3_121658201_121754741 | 121745269 | TGTATATG others(45): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02615.hp2 others(4): Show |
a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0022a0004c0005t0004g0023a0004c0005t0004g0024others(4): Show | 7 | 370 | 0.0189 | -52 | c.-3+ others(67): Show |
GOLGB1 | ENSG00000173230.17 | transcript | ENST00000614479.5 | protein_coding | 1/21 | chr3 | TogoVar | ||||||
| GOLGB1_chr3_121658201_121754741 | 121745272 | ATATGTAT others(45): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0004 | a0004c0013 | a0004c0013t0004 | a0004c0013t0004g0060 | 1 | 370 | 0.0027 | -52 | c.-3+ others(67): Show |
GOLGB1 | ENSG00000173230.17 | transcript | ENST00000614479.5 | protein_coding | 1/21 | chr3 | TogoVar | ||||||
| GOLGB1_chr3_121658201_121754741 | 121745293 | TACGTGTA others(45): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02622.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0006a0002c0003t0002a0003c0004t0001others(1): Show | a0001c0001t0006g0003a0001c0001t0006g0004a0002c0003t0002g0315others(5): Show | 8 | 370 | 0.0216 | -52 | c.-3+ others(67): Show |
GOLGB1 | ENSG00000173230.17 | transcript | ENST00000614479.5 | protein_coding | 1/21 | chr3 | TogoVar | ||||||
| GON4L_chr1_155744659_155862214 | 155809739 | CTTATATA others(45): Show |
C | intron_variant | MODIFIER | HG01099.hp1 HG01884.hp1 HG01884.hp2 others(7): Show |
a0001a0002 | a0001c0003a0001c0023a0002c0002others(1): Show | a0001c0003t0001a0001c0023t0001a0002c0002t0001others(1): Show | a0001c0003t0001g0022a0001c0003t0001g0023a0001c0003t0001g0206others(7): Show | 10 | 218 | 0.0459 | -52 | c.145 others(71): Show |
GON4L | ENSG00000116580.20 | transcript | ENST00000368331.6 | protein_coding | 10/31 | chr1 | TogoVar | ||||||
| GON4L_chr1_155744659_155862214 | 155809814 | CTTATATA others(45): Show |
C | intron_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0102 | 1 | 218 | 0.0046 | -52 | c.145 others(71): Show |
GON4L | ENSG00000116580.20 | transcript | ENST00000368331.6 | protein_coding | 10/31 | chr1 | TogoVar | ||||||
| GON4L_chr1_155744659_155862214 | 155809839 | CTTATATA others(45): Show |
C | intron_variant | MODIFIER | NA18939.hp2 NA19009.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0120a0002c0002t0001g0136 | 2 | 218 | 0.0092 | -52 | c.145 others(71): Show |
GON4L | ENSG00000116580.20 | transcript | ENST00000368331.6 | protein_coding | 10/31 | chr1 | TogoVar | ||||||
| GP6_chr19_55008705_55043264 | 55027016 | TACGGCCC others(45): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 441 | 0.0023 | -52 | c.610 others(67): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 4/7 | chr19 | TogoVar | ||||||
| GPAT2_chr2_96016946_96039916 | 96038351 | CAGTGGTA others(45): Show |
C | upstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0005 | 1 | 422 | 0.0024 | -52 | c.-36 others(63): Show |
GPAT2 | ENSG00000186281.13 | transcript | ENST00000434632.6 | protein_coding | 3436 | chr2 | TogoVar | ||||||
| GPC5_chr13_91393621_92872237 | 91586513 | TATATATA others(45): Show |
T | intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 42 | 0.0238 | -52 | c.326 others(73): Show |
GPC5 | ENSG00000179399.16 | transcript | ENST00000377067.9 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| GPC6_chr13_93221807_94413020 | 93640739 | CCTCCCCA others(45): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01074.hp1 HG01167.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0069a0001c0001t0002g0017a0001c0001t0002g0047others(16): Show | 19 | 76 | 0.2500 | -52 | c.319 others(71): Show |
GPC6 | ENSG00000183098.12 | transcript | ENST00000377047.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| GPR39_chr2_132411805_132651582 | 132492613 | TCTATATA others(45): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02723.hp2 |
a0002a0003 | a0002c0002a0003c0004 | a0002c0002t0001a0003c0004t0003 | a0002c0002t0001g0027a0003c0004t0003g0197 | 2 | 208 | 0.0096 | -52 | c.856 others(71): Show |
GPR39 | ENSG00000183840.8 | transcript | ENST00000329321.4 | protein_coding | 1/1 | chr2 | TogoVar | ||||||
| GPR87_chr3_151289086_151321820 | 151293586 | CACACACA others(45): Show |
C | downstream_gene_variant | MODIFIER | NA18968.hp2 NA19004.hp2 NA19010.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0025a0001c0002t0001g0122 | 3 | 446 | 0.0067 | -52 | c.*53 others(61): Show |
GPR87 | ENSG00000138271.6 | transcript | ENST00000260843.5 | protein_coding | 499 | chr3 | TogoVar | ||||||
| GPSM1_chr9_136322539_136364601 | 136334733 | GGCCCTGC others(45): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01167.hp1 HG01169.hp1 others(10): Show |
a0001a0002 | a0001c0005a0001c0031a0002c0002others(1): Show | a0001c0005t0005a0001c0031t0008a0002c0002t0002others(1): Show | a0001c0005t0005g0088a0001c0005t0005g0089a0001c0005t0005g0090others(10): Show | 13 | 400 | 0.0325 | -52 | c.290 others(66): Show |
GPSM1 | ENSG00000160360.13 | transcript | ENST00000440944.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| GPX5_chr6_28520881_28539955 | 28528795 | GTATATAT others(45): Show |
G | intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 411 | 0.0024 | -52 | c.88- others(65): Show |
GPX5 | ENSG00000224586.7 | transcript | ENST00000412168.7 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| GREB1_chr2_11529045_11647788 | 11538609 | GTTTCTTT others(45): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(159): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0013a0001c0089others(47): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(88): Show | a0001c0001t0001g0042a0001c0001t0001g0044a0001c0001t0002g0032others(159): Show | 162 | 308 | 0.5260 | -52 | c.-16 others(71): Show |
GREB1 | ENSG00000196208.14 | transcript | ENST00000381486.7 | protein_coding | 1/32 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GRHL1_chr2_9946693_10007277 | 9998471 | TATATATA others(45): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02572.hp1 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0013 | a0003c0003t0003g0001a0003c0003t0003g0028a0003c0003t0003g0342others(2): Show | 9 | 418 | 0.0215 | -52 | c.167 others(69): Show |
GRHL1 | ENSG00000134317.18 | transcript | ENST00000324907.14 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| GRHL2_chr8_101487439_101674726 | 101623503 | ACAGTAGG others(45): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG02809.hp2 |
a0001 | a0001c0006 | a0001c0006t0022 | a0001c0006t0022g0024a0001c0006t0022g0246 | 2 | 306 | 0.0065 | -52 | c.125 others(71): Show |
GRHL2 | ENSG00000083307.12 | transcript | ENST00000646743.1 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| GRP_chr18_59215158_59235771 | 59234431 | TAACATAT others(45): Show |
T | downstream_gene_variant | MODIFIER | HG02965.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0033 | 1 | 408 | 0.0025 | -52 | c.*39 others(63): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 3661 | chr18 | TogoVar | ||||||
| GRTP1_chr13_113319163_113369130 | 113322742 | AGGGGTGG others(45): Show |
A | downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0026 | 1 | 288 | 0.0035 | -52 | c.*16 others(63): Show |
GRTP1 | ENSG00000139835.14 | transcript | ENST00000375431.9 | protein_coding | 1420 | chr13 | TogoVar | ||||||
| GTDC1_chr2_143933068_144337512 | 144182806 | ATAATATA others(45): Show |
A | intron_variant | MODIFIER | NA18951.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013a0001c0001t0002g0014 | 2 | 124 | 0.0161 | -52 | c.179 others(71): Show |
GTDC1 | ENSG00000121964.15 | transcript | ENST00000682281.1 | protein_coding | 4/11 | chr2 | TogoVar | ||||||
| GTF2F2_chr13_45115510_45289893 | 45189646 | GAGGACAT others(45): Show |
G | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 210 | 0.0048 | -52 | c.305 others(71): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| GYG2_chrX_2823930_2887818 | 2845069 | ATATTTAT others(45): Show |
A | intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0129 | 1 | 316 | 0.0032 | -52 | c.149 others(69): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GYG2_chrX_2823930_2887818 | 2845093 | ATATTTAT others(45): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0191 | 1 | 316 | 0.0032 | -52 | c.149 others(69): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| GYG2_chrX_2823930_2887818 | 2845501 | ATATTTAT others(45): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG02451.hp1 HG02622.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0003t0007a0002c0002t0006others(3): Show | a0001c0001t0002g0125a0001c0003t0007g0024a0002c0002t0006g0043others(3): Show | 6 | 316 | 0.0190 | -52 | c.149 others(69): Show |
GYG2 | ENSG00000056998.21 | transcript | ENST00000398806.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| H2AX_chr11_119088874_119100465 | 119100144 | CCTTATCT others(45): Show |
C | upstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 430 | 0.0023 | -52 | c.-48 others(63): Show |
H2AX | ENSG00000188486.4 | transcript | ENST00000530167.2 | protein_coding | 4680 | chr11 | TogoVar | ||||||
| HACE1_chr6_104723094_104864919 | 104727283 | ATATGTAT others(45): Show |
A | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02717.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090a0001c0002t0001g0091a0001c0002t0001g0092others(2): Show | 5 | 346 | 0.0145 | -52 | c.*23 others(63): Show |
HACE1 | ENSG00000085382.12 | transcript | ENST00000262903.9 | protein_coding | 810 | chr6 | TogoVar |