view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GALNT9_chr12_132191372_132334589 | 132196954 | ACTCAGCC others(12): Show |
A | 3_prime_UTR_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0026 | a0001c0026t0014 | a0001c0026t0014g0052 | 1 | 182 | 0.0055 | -19 | c.*13 others(28): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 11/11 | 134 | chr12 | TogoVar | ||||||
GALNTL5_chr7_151951446_152024929 | 151995348 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG01175.hp2 HG01934.hp1 HG03516.hp1 |
a0006a0011 | a0006c0006a0011c0018 | a0006c0006t0001a0006c0006t0002a0011c0018t0002 | a0006c0006t0001g0349 a0006c0006t0002g0129 a0011c0018t0002g0111 |
3 | 138 | 0.0217 | -19 | c.659 others(36): Show |
GALNTL5 | ENSG00000106648.15 | transcript | ENST00000392800.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
GALNTL6_chr4_171808404_173046559 | 172206786 | TGTTTTGT others(12): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 40 | 0.0250 | -19 | c.139 others(38): Show |
GALNTL6 | ENSG00000174473.17 | transcript | ENST00000506823.6 | protein_coding | 2/12 | chr4 | TogoVar | |||||||
GALNTL6_chr4_171808404_173046559 | 172405429 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0020 | 1 | 34 | 0.0294 | -19 | 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 | 172405437 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0006 | 1 | 40 | 0.0250 | -19 | 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 | 34644302 | TATATATA others(12): Show |
T | upstream_gene_variant | MODIFIER | NA18940.hp2 NA18953.hp2 NA18959.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0004g0001 |
9 | 185 | 0.0486 | -19 | c.-24 others(30): Show |
GALT | ENSG00000213930.12 | transcript | ENST00000378842.8 | protein_coding | 2372 | chr9 | TogoVar | |||||||
GAN_chr16_81309962_81395809 | 81346380 | AGGCCTTA others(12): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00597.hp2 others(108): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(46): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 others(101): Show |
111 | 382 | 0.2906 | -19 | c.168 others(36): Show |
GAN | ENSG00000261609.8 | transcript | ENST00000648994.2 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GAP43_chr3_115618510_115726483 | 115652356 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG01255.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0231 a0001c0001t0003g0162 |
2 | 76 | 0.0263 | -19 | c.31- others(36): Show |
GAP43 | ENSG00000172020.13 | transcript | ENST00000305124.11 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
GAPVD1_chr9_125256826_125372207 | 125300039 | ATATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG02165.hp1 NA19000.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0026 a0001c0001t0002g0028 a0001c0001t0002g0059 others(1): Show |
4 | 224 | 0.0179 | -19 | c.185 others(34): Show |
GAPVD1 | ENSG00000165219.23 | transcript | ENST00000297933.11 | protein_coding | 4/27 | chr9 | TogoVar | |||||||
GARNL3_chr9_127259774_127398660 | 127301925 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0085 |
2 | 55 | 0.0364 | -19 | c.220 others(36): Show |
GARNL3 | ENSG00000136895.19 | transcript | ENST00000373387.9 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GARRE1_chr19_34249554_34360566 | 34290874 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00621.hp1 others(27): Show |
a0001a0003a0009 | a0001c0001a0001c0002a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0002t0002others(2): Show | a0001c0001t0001g0080 a0001c0001t0001g0086 a0001c0001t0001g0087 others(27): Show |
30 | 32 | 0.9375 | -19 | c.-79 others(38): Show |
GARRE1 | ENSG00000166398.14 | transcript | ENST00000299505.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
GCC2_chr2_108444206_108514415 | 108459745 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0002 | a0001c0002t0052 | a0001c0002t0052g0155 | 1 | 28 | 0.0357 | -19 | c.216 others(36): Show |
GCC2 | ENSG00000135968.22 | transcript | ENST00000309863.11 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GCFC2_chr2_75657705_75715915 | 75689247 | TTATGCAT others(12): Show |
T | intron_variant | MODIFIER | NA19063.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0103 | 1 | 402 | 0.0025 | -19 | c.134 others(34): Show |
GCFC2 | ENSG00000005436.14 | transcript | ENST00000321027.8 | protein_coding | 9/16 | chr2 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54880435 | TATATATA others(12): Show |
T | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 | 1 | 344 | 0.0029 | -19 | c.344 others(38): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GCH1_chr14_54837017_54907826 | 54880484 | CATATATA others(12): Show |
C | intron_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0314 | 1 | 261 | 0.0038 | -19 | c.344 others(38): Show |
GCH1 | ENSG00000131979.20 | transcript | ENST00000491895.7 | protein_coding | 1/5 | chr14 | TogoVar | |||||||
GCHFR_chr15_40759068_40772708 | 40771299 | ATGCCGGG others(12): Show |
A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00621.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 a0001c0001t0002g0009 a0001c0001t0002g0023 others(2): Show |
26 | 414 | 0.0628 | -19 | c.*39 others(30): Show |
GCHFR | ENSG00000137880.6 | transcript | ENST00000260447.6 | protein_coding | 3592 | chr15 | TogoVar | |||||||
GCNA_chrX_71573437_71618583 | 71589450 | CTTTTTTT others(12): Show |
C | intron_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 53 | 0.0189 | -19 | c.60- others(34): Show |
GCNA | ENSG00000147174.12 | transcript | ENST00000373696.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
GDAP1L1_chr20_44242308_44285947 | 44255541 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 132 | 0.0076 | -19 | c.181 others(36): Show |
GDAP1L1 | ENSG00000124194.17 | transcript | ENST00000342560.10 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
GDF5_chr20_35428347_35443228 | 35435450 | TAAAAAAA others(12): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp2 HG02572.hp1 others(15): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0005 | a0001c0001t0002a0002c0003t0004a0004c0005t0003 | a0001c0001t0002g0004 a0002c0003t0004g0025 a0002c0003t0004g0041 others(1): Show |
18 | 19 | 0.9474 | -19 | c.632 others(34): Show |
GDF5 | ENSG00000125965.9 | transcript | ENST00000374369.8 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
GDI1_chrX_154432154_154448467 | 154444188 | TCGCCGCC others(12): Show |
T | downstream_gene_variant | MODIFIER | HG01361.hp2 HG02818.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005 a0001c0002t0001g0008 |
2 | 278 | 0.0072 | -19 | c.*15 others(30): Show |
GDI1 | ENSG00000203879.12 | transcript | ENST00000447750.7 | protein_coding | 722 | chrX | TogoVar | |||||||
GDI2_chr10_5760223_5818434 | 5794187 | AAATATAT others(12): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0222 a0001c0001t0002g0223 a0001c0001t0002g0224 |
3 | 352 | 0.0085 | -19 | c.388 others(34): Show |
GDI2 | ENSG00000057608.17 | transcript | ENST00000380191.9 | protein_coding | 4/10 | chr10 | TogoVar | |||||||
GDI2_chr10_5760223_5818434 | 5813418 | ACGGGAAG others(12): Show |
A | 5_prime_UTR_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0004 | a0002c0004t0019 | a0002c0004t0019g0357 | 1 | 396 | 0.0025 | -19 | c.-17 others(28): Show |
GDI2 | ENSG00000057608.17 | transcript | ENST00000380191.9 | protein_coding | 1/11 | 161 | chr10 | TogoVar | ||||||
GDPD5_chr11_75429640_75530941 | 75469728 | TGGCCTGG others(12): Show |
T | intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 320 | 0.0031 | -19 | c.118 others(36): Show |
GDPD5 | ENSG00000158555.15 | transcript | ENST00000336898.8 | protein_coding | 3/16 | chr11 | TogoVar | |||||||
GDPGP1_chr15_90229209_90250811 | 90246787 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp1 others(46): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0033others(17): Show | a0001c0001t0002g0002 a0001c0001t0002g0011 a0001c0001t0002g0017 others(27): Show |
49 | 87 | 0.5632 | -19 | c.*47 others(30): Show |
GDPGP1 | ENSG00000183208.13 | transcript | ENST00000329600.8 | protein_coding | 977 | chr15 | TogoVar | |||||||
GDPGP1_chr15_90229209_90250811 | 90248718 | CAAAAAAA others(12): Show |
C | downstream_gene_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0004 | 1 | 54 | 0.0185 | -19 | c.*66 others(30): Show |
GDPGP1 | ENSG00000183208.13 | transcript | ENST00000329600.8 | protein_coding | 2908 | chr15 | TogoVar | |||||||
GEMIN6_chr2_38773210_38790002 | 38773781 | CTCTTTCT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 148 | 0.0068 | -19 | c.-45 others(30): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 4428 | chr2 | TogoVar | |||||||
GEMIN6_chr2_38773210_38790002 | 38773839 | CTTTCTTT others(12): Show |
C | upstream_gene_variant | MODIFIER | NA18989.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0001 | 1 | 404 | 0.0025 | -19 | c.-44 others(30): Show |
GEMIN6 | ENSG00000152147.11 | transcript | ENST00000281950.8 | protein_coding | 4370 | chr2 | TogoVar | |||||||
GET1_chr21_39375326_39402889 | 39378596 | TTTCTTTC others(12): Show |
T | upstream_gene_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 292 | 0.0034 | -19 | c.-17 others(30): Show |
GET1 | ENSG00000182093.16 | transcript | ENST00000649170.1 | protein_coding | 1729 | chr21 | TogoVar | |||||||
GFRA1_chr10_116051925_116278206 | 116076147 | TAGTACTA others(12): Show |
T | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0001 | a0001c0001t0128 | a0001c0001t0128g0131 | 1 | 209 | 0.0048 | -19 | c.119 others(40): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 9/10 | chr10 | TogoVar | |||||||
GFRA1_chr10_116051925_116278206 | 116196715 | GTACTATA others(12): Show |
G | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0130 | a0001c0001t0130g0086 | 1 | 212 | 0.0047 | -19 | c.433 others(38): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 5/10 | chr10 | TogoVar | |||||||
GFRA1_chr10_116051925_116278206 | 116244169 | GATTGATC others(12): Show |
G | intron_variant | MODIFIER | HG00642.hp1 HG01243.hp2 |
a0002 | a0002c0003 | a0002c0003t0019 | a0002c0003t0019g0135 a0002c0003t0019g0136 |
2 | 212 | 0.0094 | -19 | c.418 others(38): Show |
GFRA1 | ENSG00000151892.16 | transcript | ENST00000355422.11 | protein_coding | 4/10 | chr10 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21696924 | AGGGAAGG others(12): Show |
A | intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0291 | 1 | 320 | 0.0031 | -19 | c.121 others(38): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 7/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21745663 | CTGCTCTC others(12): Show |
C | intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 320 | 0.0031 | -19 | c.794 others(36): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 4/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21763991 | ACACACAC others(12): Show |
A | intron_variant | MODIFIER | HG03669.hp2 | a0008 | a0008c0026 | a0008c0026t0003 | a0008c0026t0003g0264 | 1 | 320 | 0.0031 | -19 | c.439 others(38): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GGNBP2_chr17_36539919_36594848 | 36554352 | ATTTTTTT others(12): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0048 | 1 | 58 | 0.0172 | -19 | c.94- others(32): Show |
GGNBP2 | ENSG00000278311.5 | transcript | ENST00000613102.5 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GGT1_chr22_24598193_24633996 | 24621436 | TAAGGCCC others(12): Show |
T | intron_variant | MODIFIER | HG03654.hp1 HG03834.hp2 HG04115.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0166 a0001c0006t0001g0216 a0001c0006t0001g0233 |
3 | 424 | 0.0071 | -19 | c.733 others(34): Show |
GGT1 | ENSG00000100031.19 | transcript | ENST00000400382.6 | protein_coding | 9/15 | chr22 | TogoVar | |||||||
GGT6_chr17_4551927_4565577 | 4564685 | CTTTCTTT others(12): Show |
C | upstream_gene_variant | MODIFIER | HG01167.hp2 | a0003 | a0003c0006 | a0003c0006t0003 | a0003c0006t0003g0032 | 1 | 455 | 0.0022 | -19 | c.-41 others(30): Show |
GGT6 | ENSG00000167741.11 | transcript | ENST00000381550.8 | protein_coding | 4109 | chr17 | TogoVar | |||||||
GGT7_chr20_34839720_34877856 | 34874149 | CAGGGATG others(12): Show |
C | upstream_gene_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0112 | 1 | 352 | 0.0028 | -19 | c.-13 others(30): Show |
GGT7 | ENSG00000131067.17 | transcript | ENST00000336431.10 | protein_coding | 1294 | chr20 | TogoVar | |||||||
GGTA1_chr9_121450040_121504844 | 121487292 | GCTCAGGC others(12): Show |
G | intron_variant | MODIFIER | HG01109.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0246 a0001c0001t0003g0274 |
2 | 336 | 0.0060 | -19 | c.-10 others(38): Show |
GGTA1 | ENSG00000204136.12 | transcript | ENST00000481799.6 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
GHDC_chr17_42184087_42199494 | 42187582 | CTTTTTTT others(12): Show |
C | downstream_gene_variant | MODIFIER | HG01928.hp2 HG01934.hp2 HG03831.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0005t0001g0023 |
4 | 70 | 0.0571 | -19 | c.*21 others(30): Show |
GHDC | ENSG00000167925.17 | transcript | ENST00000587427.6 | protein_coding | 1504 | chr17 | TogoVar | |||||||
GINM1_chr6_149561375_149596748 | 149562297 | TATATATA others(12): Show |
T | upstream_gene_variant | MODIFIER | NA18957.hp1 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0203 |
2 | 377 | 0.0053 | -19 | c.-41 others(30): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4077 | chr6 | TogoVar | |||||||
GINM1_chr6_149561375_149596748 | 149562298 | ATATATAT others(12): Show |
A | upstream_gene_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 376 | 0.0027 | -19 | c.-41 others(30): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4076 | chr6 | TogoVar | |||||||
GINM1_chr6_149561375_149596748 | 149562300 | ATATATAT others(12): Show |
A | upstream_gene_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0114 | 1 | 377 | 0.0027 | -19 | c.-41 others(30): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4074 | chr6 | TogoVar | |||||||
GINM1_chr6_149561375_149596748 | 149562308 | ATATATAT others(12): Show |
A | upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 357 | 0.0028 | -19 | c.-41 others(30): Show |
GINM1 | ENSG00000055211.14 | transcript | ENST00000367419.10 | protein_coding | 4066 | chr6 | TogoVar | |||||||
GINS4_chr8_41524261_41550030 | 41546849 | ATTTTTTT others(12): Show |
A | downstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 83 | 0.0120 | -19 | c.*47 others(30): Show |
GINS4 | ENSG00000147536.12 | transcript | ENST00000276533.4 | protein_coding | 1820 | chr8 | TogoVar | |||||||
GJC1_chr17_44793448_44835287 | 44821697 | CAAAAAAA others(12): Show |
C | intron_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 70 | 0.0143 | -19 | c.-97 others(36): Show |
GJC1 | ENSG00000182963.11 | transcript | ENST00000592524.6 | protein_coding | 1/2 | chr17 | TogoVar | |||||||
GJD4_chr10_35600341_35613935 | 35601150 | AGGGGGTA others(12): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 438 | 0.0023 | -19 | c.-44 others(30): Show |
GJD4 | ENSG00000177291.4 | transcript | ENST00000321660.2 | protein_coding | 4190 | chr10 | TogoVar | |||||||
GK_chrX_30648423_30736462 | 30732350 | ATATATAT others(12): Show |
A | downstream_gene_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 284 | 0.0035 | -19 | c.*36 others(30): Show |
GK | ENSG00000198814.14 | transcript | ENST00000427190.6 | protein_coding | 889 | chrX | TogoVar | |||||||
GLB1L3_chr11_134271379_134324564 | 134308456 | CACCACCA others(12): Show |
C | intron_variant | MODIFIER | HG03492.hp2 HG03942.hp2 NA19058.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(1): Show | a0001c0001t0001g0171 a0001c0001t0006g0132 a0001c0002t0001g0136 others(2): Show |
5 | 420 | 0.0119 | -19 | c.962 others(36): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GLB1L3_chr11_134271379_134324564 | 134308470 | CCAAATAC others(12): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp1 HG02735.hp2 others(1): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0002a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0002g0371 a0001c0001t0004g0167 a0001c0002t0002g0274 others(1): Show |
4 | 324 | 0.0123 | -19 | c.962 others(36): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |