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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLGAP2_chr8_732628_1713476 | 1644016 | C | CCCCGCCG others(365): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0002 | a0002c0001 | a0002c0001t0020 | a0002c0001t0020g0024 | 1 | 40 | 0.0250 | 372 | c.181 others(393): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DNAH12_chr3_57288700_57549344 | 57390424 | A | AATATATA others(365): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0169 | 1 | 266 | 0.0038 | 372 | c.730 others(391): Show |
DNAH12 | ENSG00000174844.15 | transcript | ENST00000495027.6 | protein_coding | 45/73 | chr3 | TogoVar | |||||||
DNM2_chr19_10713079_10836903 | 10758363 | T | TTCCCTCC others(365): Show |
intron_variant | MODIFIER | HG02280.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0020 a0001c0001t0005g0021 |
2 | 278 | 0.0072 | 372 | c.162 others(389): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DNM2_chr19_10713079_10836903 | 10758403 | T | TTCCTTCC others(365): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01981.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 a0001c0002t0002g0009 |
2 | 278 | 0.0072 | 372 | c.162 others(389): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DNM2_chr19_10713079_10836903 | 10758447 | T | CTCCCTCC others(365): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 278 | 0.0036 | 372 | c.162 others(389): Show |
DNM2 | ENSG00000079805.19 | transcript | ENST00000389253.9 | protein_coding | 1/20 | chr19 | TogoVar | |||||||
DOCK8_chr9_209865_470255 | 400097 | C | CCACCACC others(365): Show |
intron_variant | MODIFIER | HG01952.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0161 | 1 | 256 | 0.0039 | 372 | c.323 others(389): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400154 | C | CCACCACC others(365): Show |
intron_variant | MODIFIER | HG01943.hp1 HG01981.hp1 HG01993.hp2 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0002a0002c0008a0002c0021others(6): Show | a0001c0002t0001a0002c0008t0001a0002c0021t0005others(7): Show | a0001c0002t0001g0090 a0002c0008t0001g0112 a0002c0008t0001g0113 others(8): Show |
11 | 256 | 0.0430 | 372 | c.323 others(389): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400981 | C | CACCACCT others(365): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0064 | a0001c0064t0001 | a0001c0064t0001g0032 | 1 | 256 | 0.0039 | 372 | c.323 others(391): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89635168 | T | TCCCTTCC others(365): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 250 | 0.0040 | 372 | c.105 others(387): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DPEP1_chr16_89608642_89643433 | 89635168 | T | TCCCTTCC others(365): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 250 | 0.0040 | 372 | c.105 others(387): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18675822 | A | ATATGTAA others(365): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0366 | 1 | 398 | 0.0025 | 372 | c.477 others(391): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DTD1_chr20_18583054_18771644 | 18675822 | A | ATATGTGT others(365): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0216 | 1 | 398 | 0.0025 | 372 | c.477 others(391): Show |
DTD1 | ENSG00000125821.13 | transcript | ENST00000377452.4 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716247 | G | GTTGGTGT others(365): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0026 | a0002c0026t0001 | a0002c0026t0001g0075 | 1 | 170 | 0.0059 | 372 | c.86- others(385): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | chr9 | TogoVar | |||||||
EIF4G3_chr1_20801479_21181897 | 21180071 | T | TATATATT others(365): Show |
upstream_gene_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0216 | 1 | 312 | 0.0032 | 372 | c.-38 others(383): Show |
EIF4G3 | ENSG00000075151.24 | transcript | ENST00000602326.6 | protein_coding | 3175 | chr1 | TogoVar | |||||||
EML1_chr14_99788413_99947060 | 99928221 | G | GTGGTGGA others(365): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0003 | a0003c0014 | a0003c0014t0004 | a0003c0014t0004g0254 | 1 | 288 | 0.0035 | 372 | c.190 others(391): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ENPP3_chr6_131632302_131752410 | 131692861 | A | ATATATAT others(365): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02280.hp2 HG03041.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0008 a0001c0002t0002g0010 a0001c0002t0002g0079 |
3 | 278 | 0.0108 | 372 | c.128 others(389): Show |
ENPP3 | ENSG00000154269.15 | transcript | ENST00000357639.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ERRFI1_chr1_8006727_8031309 | 8027004 | C | CAGTGTGG others(365): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0052 | 1 | 402 | 0.0025 | 372 | c.-92 others(381): Show |
ERRFI1 | ENSG00000116285.13 | transcript | ENST00000377482.10 | protein_coding | 696 | chr1 | TogoVar | |||||||
FHIT_chr3_59742277_61256452 | 60860567 | G | GATATATA others(365): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0022 | 1 | 46 | 0.0217 | 372 | c.-11 others(393): Show |
FHIT | ENSG00000189283.11 | transcript | ENST00000492590.6 | protein_coding | 3/9 | chr3 | TogoVar | |||||||
FLACC1_chr2_201283271_201362345 | 201284695 | G | GGGGAGAG others(365): Show |
downstream_gene_variant | MODIFIER | NA18986.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0009 | 1 | 370 | 0.0027 | 372 | c.*39 others(383): Show |
FLACC1 | ENSG00000155749.13 | transcript | ENST00000392257.8 | protein_coding | 3575 | chr2 | TogoVar | |||||||
FLACC1_chr2_201283271_201362345 | 201284695 | G | GGGGAGAG others(365): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG01109.hp2 HG01255.hp2 others(8): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 a0002c0002t0002g0008 a0002c0002t0002g0164 others(8): Show |
11 | 370 | 0.0297 | 372 | c.*39 others(383): Show |
FLACC1 | ENSG00000155749.13 | transcript | ENST00000392257.8 | protein_coding | 3575 | chr2 | TogoVar | |||||||
FLT4_chr5_180596506_180654600 | 180634823 | T | TGGGAGGA others(365): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0017 | a0017c0042 | a0017c0042t0004 | a0017c0042t0004g0068 | 1 | 388 | 0.0026 | 372 | c.59- others(387): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1317225 | C | CCCTCCCC others(365): Show |
downstream_gene_variant | MODIFIER | HG02717.hp1 HG03486.hp2 HG03540.hp2 |
a0002 | a0002c0005 | a0002c0005t0008a0002c0005t0012 | a0002c0005t0008g0000 a0002c0005t0012g0000 |
3 | 406 | 0.0074 | 372 | c.*33 others(383): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2468 | chr6 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1317226 | C | CCTCCCCC others(365): Show |
downstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 406 | 0.0025 | 372 | c.*33 others(383): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2469 | chr6 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1317226 | C | CCTCCCCC others(365): Show |
downstream_gene_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 406 | 0.0025 | 372 | c.*33 others(383): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2469 | chr6 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1317226 | C | CCTCCCCC others(365): Show |
downstream_gene_variant | MODIFIER | NA18944.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0000 | 1 | 406 | 0.0025 | 372 | c.*33 others(383): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2469 | chr6 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1317226 | C | CCTCCCCC others(365): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0000 | 1 | 406 | 0.0025 | 372 | c.*33 others(383): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2469 | chr6 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1317226 | C | CCTCCCCC others(365): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(92): Show |
a0001a0002a0004others(9): Show | a0001c0001a0002c0004a0002c0005others(11): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0021others(14): Show | a0001c0001t0002g0000 a0001c0001t0009g0000 a0001c0001t0021g0000 others(14): Show |
95 | 406 | 0.2340 | 372 | c.*33 others(383): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2469 | chr6 | TogoVar | |||||||
FOXQ1_chr6_1307098_1319758 | 1317226 | C | CCTCCCCC others(365): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0000 | 1 | 406 | 0.0025 | 372 | c.*33 others(383): Show |
FOXQ1 | ENSG00000164379.7 | transcript | ENST00000296839.5 | protein_coding | 2469 | chr6 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46145767 | C | CCGCCCTC others(365): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0092 | 1 | 230 | 0.0044 | 372 | c.109 others(387): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 9/13 | chr21 | TogoVar | |||||||
FTCD_chr21_46131779_46160579 | 46145767 | C | CCGCCCTC others(365): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0207 | 1 | 230 | 0.0044 | 372 | c.109 others(387): Show |
FTCD | ENSG00000160282.15 | transcript | ENST00000397746.8 | protein_coding | 9/13 | chr21 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26716752 | A | AACAGCCC others(365): Show |
intron_variant | MODIFIER | NA19072.hp1 NA19082.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 a0001c0001t0001g0159 |
2 | 204 | 0.0098 | 372 | c.240 others(391): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GABRB3_chr15_26538552_26778066 | 26716876 | C | CACAGCCT others(365): Show |
intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0160 | 1 | 204 | 0.0049 | 372 | c.240 others(391): Show |
GABRB3 | ENSG00000166206.16 | transcript | ENST00000311550.10 | protein_coding | 3/8 | chr15 | TogoVar | |||||||
GALNT1_chr18_35576740_35716834 | 35597863 | A | AAATGCTG others(365): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175 | 1 | 310 | 0.0032 | 372 | c.-10 others(393): Show |
GALNT1 | ENSG00000141429.14 | transcript | ENST00000269195.6 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132244459 | C | CGGGGGCG others(365): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0005 | a0005c0032 | a0005c0032t0001 | a0005c0032t0001g0026 | 1 | 183 | 0.0055 | 372 | c.107 others(391): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
GALR1_chr18_77244848_77282900 | 77252950 | T | TCACCACC others(365): Show |
intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0001 | a0001c0001t0101 | a0001c0001t0101g0043 | 1 | 366 | 0.0027 | 372 | c.666 others(389): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77259015 | G | GTGTTGGT others(365): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0002 | a0001c0002t0129 | a0001c0002t0129g0158 | 1 | 366 | 0.0027 | 372 | c.732 others(389): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
GJB3_chr1_34776214_34791364 | 34777717 | A | ATCATCAC others(365): Show |
upstream_gene_variant | MODIFIER | NA18965.hp2 NA18975.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 2 | 444 | 0.0045 | 372 | c.-40 others(383): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3496 | chr1 | TogoVar | |||||||
GJB3_chr1_34776214_34791364 | 34777729 | A | ATTCACAA others(365): Show |
upstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 444 | 0.0023 | 372 | c.-40 others(383): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3484 | chr1 | TogoVar | |||||||
GJB3_chr1_34776214_34791364 | 34777774 | T | TCTCCACC others(365): Show |
upstream_gene_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 444 | 0.0023 | 372 | c.-40 others(383): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3439 | chr1 | TogoVar | |||||||
GJB3_chr1_34776214_34791364 | 34777774 | T | TCTCCACC others(365): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 444 | 0.0023 | 372 | c.-40 others(383): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3439 | chr1 | TogoVar | |||||||
GLB1L3_chr11_134271379_134324564 | 134308404 | T | TCATCACC others(365): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0337 | 1 | 422 | 0.0024 | 372 | c.961 others(389): Show |
GLB1L3 | ENSG00000166105.16 | transcript | ENST00000431683.7 | protein_coding | 10/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GMDS_chr6_1618806_2250605 | 1898008 | C | CCCTGGCC others(365): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 166 | 0.0060 | 372 | c.771 others(391): Show |
GMDS | ENSG00000112699.11 | transcript | ENST00000380815.5 | protein_coding | 7/10 | chr6 | TogoVar | |||||||
GPR173_chrX_53043789_53085615 | 53074457 | A | AATATATA others(365): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0188 | 1 | 208 | 0.0048 | 372 | c.-97 others(389): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | chrX | TogoVar | |||||||
GRIN2A_chr16_9748408_10187428 | 9848749 | T | TTTTAAAT others(365): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG01257.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(5): Show | a0001c0001t0001g0089 a0001c0001t0001g0133 a0001c0001t0002g0039 others(7): Show |
10 | 168 | 0.0595 | 372 | c.132 others(391): Show |
GRIN2A | ENSG00000183454.18 | transcript | ENST00000330684.4 | protein_coding | 5/12 | chr16 | TogoVar | |||||||
GRIN2A_chr16_9748408_10187428 | 9849139 | C | CACTGTTT others(365): Show |
intron_variant | MODIFIER | HG01981.hp1 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0060 | a0001c0001t0013g0087 a0001c0001t0060g0052 |
2 | 168 | 0.0119 | 372 | c.132 others(389): Show |
GRIN2A | ENSG00000183454.18 | transcript | ENST00000330684.4 | protein_coding | 5/12 | chr16 | TogoVar | |||||||
GRK4_chr4_2958571_3045760 | 2961226 | T | TGTTAGTA others(365): Show |
upstream_gene_variant | MODIFIER | NA19000.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0209 | 1 | 268 | 0.0037 | 372 | c.-28 others(383): Show |
GRK4 | ENSG00000125388.20 | transcript | ENST00000398052.9 | protein_coding | 2344 | chr4 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85653198 | C | CCCGCCTC others(365): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0197 | 1 | 290 | 0.0035 | 372 | c.427 others(389): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 316171 | G | GACACACA others(365): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0113 | 1 | 155 | 0.0065 | 372 | c.487 others(387): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
HBQ1_chr16_175459_186179 | 186136 | G | GGAGGAAC others(365): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 384 | 0.0026 | 372 | c.*50 others(383): Show |
HBQ1 | ENSG00000086506.3 | transcript | ENST00000199708.3 | protein_coding | 4958 | chr16 | TogoVar | |||||||
HDAC9_chr7_18490749_19007416 | 18786615 | T | TTCCTTCC others(365): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0153 | 1 | 156 | 0.0064 | 372 | c.221 others(391): Show |
HDAC9 | ENSG00000048052.25 | transcript | ENST00000686413.1 | protein_coding | 16/25 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |