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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4221): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0002 | a0002c0013 | a0002c0013t0001 | a0002c0013t0001g0016 | 1 | 7 | 0.1429 | 4228 | c.507 others(4245): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4221): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0002 | a0002c0004 | a0002c0004t0024 | a0002c0004t0024g0113 | 1 | 7 | 0.1429 | 4228 | c.507 others(4245): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4223): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0082 | 1 | 7 | 0.1429 | 4230 | c.507 others(4247): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4223): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 7 | 0.1429 | 4230 | c.507 others(4247): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4223): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0067 | 1 | 7 | 0.1429 | 4230 | c.507 others(4247): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4223): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 7 | 0.1429 | 4230 | c.507 others(4247): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4223): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0022 | 1 | 7 | 0.1429 | 4230 | c.507 others(4247): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203061 | G | GCCCCCCC others(4223): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0151 | 1 | 73 | 0.0137 | 4230 | c.162 others(4249): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
HRNR_chr1_152207076_152229193 | 152214999 | G | GCTGGAAG others(4223): Show |
disruptive_inframe_insertion | MODERATE | HG02647.hp2 | a0001 | a0001c0044 | a0001c0044t0002 | a0001c0044t0002g0049 | 1 | 416 | 0.0024 | 4230 | c.662 others(4239): Show |
p.Ser others(4245): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 6705/9629 | 6629/8553 | 2210/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152216766 | A | AGACCGAC others(4223): Show |
disruptive_inframe_insertion | MODERATE | HG04228.hp1 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0188 | 1 | 328 | 0.0030 | 4230 | c.486 others(4239): Show |
p.Ser others(4245): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 4938/9629 | 4862/8553 | 1621/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152216766 | A | AGACCGAC others(4223): Show |
disruptive_inframe_insertion | MODERATE | HG00639.hp2 HG01168.hp2 |
a0001 | a0001c0011a0001c0044 | a0001c0011t0002a0001c0044t0002 | a0001c0011t0002g0014 a0001c0044t0002g0049 |
2 | 329 | 0.0061 | 4230 | c.486 others(4239): Show |
p.Ser others(4245): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 4938/9629 | 4862/8553 | 1621/2850 | chr1 | TogoVar | |||
HRNR_chr1_152207076_152229193 | 152216766 | A | AGACCGAC others(4223): Show |
disruptive_inframe_insertion | MODERATE | NA18949.hp2 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0014 | 1 | 328 | 0.0030 | 4230 | c.486 others(4239): Show |
p.Ser others(4245): Show |
HRNR | ENSG00000197915.7 | transcript | ENST00000368801.4 | protein_coding | 3/3 | 4938/9629 | 4862/8553 | 1621/2850 | chr1 | TogoVar | |||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4224): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0002 | a0002c0004 | a0002c0004t0010 | a0002c0004t0010g0085 | 1 | 7 | 0.1429 | 4231 | c.507 others(4248): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502685 | A | AGGGGGAC others(4224): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0047 | a0001c0047t0001 | a0001c0047t0001g0147 | 1 | 82 | 0.0122 | 4231 | c.147 others(4248): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4225): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0116 | 1 | 7 | 0.1429 | 4232 | c.507 others(4249): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4225): Show |
intron_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0104 | 1 | 7 | 0.1429 | 4232 | c.507 others(4249): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATATAT others(4225): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0004 | a0002c0004t0016 | a0002c0004t0016g0013 | 1 | 7 | 0.1429 | 4232 | c.507 others(4249): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585487 | C | CCTTTCCA others(4225): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0012 | a0012c0016 | a0012c0016t0001 | a0012c0016t0001g0088 | 1 | 192 | 0.0052 | 4232 | c.215 others(4249): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4226): Show |
upstream_gene_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 4233 | c.-45 others(4242): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4226): Show |
upstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 8 | 0.1250 | 4233 | c.-45 others(4242): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4226): Show |
upstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0053 | 1 | 8 | 0.1250 | 4233 | c.-45 others(4242): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4227): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014 | 1 | 7 | 0.1429 | 4234 | c.507 others(4251): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4227): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01346.hp1 HG01952.hp1 others(1): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0071 a0001c0001t0001g0096 a0001c0001t0001g0105 others(1): Show |
4 | 10 | 0.4000 | 4234 | c.507 others(4251): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4227): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0014 | a0001c0014t0028 | a0001c0014t0028g0095 | 1 | 7 | 0.1429 | 4234 | c.507 others(4251): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4227): Show |
upstream_gene_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 8 | 0.1250 | 4234 | c.-45 others(4243): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CTGTATAC others(4229): Show |
intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0141 | 1 | 233 | 0.0043 | 4236 | c.366 others(4253): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4229): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 7 | 0.1429 | 4236 | c.507 others(4253): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4229): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0109 | 1 | 7 | 0.1429 | 4236 | c.507 others(4253): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4229): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0002 | 1 | 7 | 0.1429 | 4236 | c.507 others(4253): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322912 | T | TATATGTA others(4229): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 271 | 0.0037 | 4236 | c.-21 others(4247): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2057 | chr21 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4230): Show |
upstream_gene_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 8 | 0.1250 | 4237 | c.-45 others(4246): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CTGTATAC others(4231): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256 | 1 | 233 | 0.0043 | 4238 | c.366 others(4255): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4231): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0018 | 1 | 7 | 0.1429 | 4238 | c.507 others(4255): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4231): Show |
intron_variant | MODIFIER | HG00621.hp2 HG01261.hp1 HG01261.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0029a0001c0003t0001 | a0001c0002t0001g0106 a0001c0002t0029g0110 a0001c0003t0001g0044 |
3 | 9 | 0.3333 | 4238 | c.507 others(4255): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4231): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0111 | 1 | 7 | 0.1429 | 4238 | c.507 others(4255): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4231): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0126 | 1 | 8 | 0.1250 | 4238 | c.-45 others(4247): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4233): Show |
intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0107 | 1 | 7 | 0.1429 | 4240 | c.507 others(4257): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4233): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 7 | 0.1429 | 4240 | c.507 others(4257): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158916028 | T | TACACGCT others(4233): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0255 | 1 | 6 | 0.1667 | 4240 | c.179 others(4259): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364365 | G | GCTTACAC others(4233): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 246 | 0.0041 | 4240 | c.129 others(4259): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 101922 | C | CCTGGAAA others(4233): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0015 | a0015c0019 | a0015c0019t0012 | a0015c0019t0012g0163 | 1 | 192 | 0.0052 | 4240 | c.45+ others(4255): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PLEKHG4B_chr5_87168_194966 | 101975 | C | CCTGGAAA others(4233): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0030 | a0030c0026 | a0030c0026t0056 | a0030c0026t0056g0168 | 1 | 197 | 0.0051 | 4240 | c.45+ others(4255): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAATA others(4234): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0101 | 1 | 7 | 0.1429 | 4241 | c.507 others(4258): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(4234): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0020 | a0020c0041 | a0020c0041t0002 | a0020c0041t0002g0083 | 1 | 32 | 0.0313 | 4241 | c.218 others(4256): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311903 | T | TGGCCCCA others(4234): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 335 | 0.0030 | 4241 | c.327 others(4258): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4235): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0074 | 1 | 7 | 0.1429 | 4242 | c.507 others(4259): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4235): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0078 | 1 | 7 | 0.1429 | 4242 | c.507 others(4259): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
RAB3B_chr1_51902956_51995700 | 51906869 | A | AAGGGAAG others(4235): Show |
downstream_gene_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 13 | 0.0769 | 4242 | c.*13 others(4255): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1086 | chr1 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(4236): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0045 | a0045c0077 | a0045c0077t0001 | a0045c0077t0001g0123 | 1 | 34 | 0.0294 | 4243 | c.299 others(4258): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
CTIF_chr18_48534031_48868217 | 48671983 | A | AAATAAAT others(4237): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18747.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0120 a0001c0003t0001g0080 |
2 | 8 | 0.2500 | 4244 | c.507 others(4261): Show |
CTIF | ENSG00000134030.14 | transcript | ENST00000256413.8 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |