| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| IL31_chr12_122167029_122179221 | 122167940 | TAGTAGCT others(1985): Show |
T | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 370 | 0.0027 | -1992 | c.*24 others(11): Show |
IL31 | ENSG00000204671.2 | transcript | ENST00000377035.2 | protein_coding | 4088 | chr12 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744682 | CGAGCAGG others(1985): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG02015.hp1 HG02559.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0007a0002c0002t0017others(1): Show | a0002c0002t0001g0250a0002c0002t0007g0312a0002c0002t0017g0261others(1): Show | 4 | 366 | 0.0109 | -1992 | c.462 others(15): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| PCGF3_chr4_700832_775089 | 744984 | CCCGGGGG others(1985): Show |
C | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0322 | 1 | 366 | 0.0027 | -1992 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| VPS28_chr8_144418617_144433548 | 144420175 | GTCTCTAC others(1985): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01070.hp2 HG01175.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 12 | 408 | 0.0294 | -1992 | c.*16 others(11): Show |
VPS28 | ENSG00000160948.14 | transcript | ENST00000292510.6 | protein_coding | 3441 | chr8 | TogoVar | ||||||
| C19orf47_chr19_40314536_40353397 | 40350282 | AACTGCAT others(1983): Show |
A | upstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 384 | 0.0026 | -1990 | c.-39 others(11): Show |
C19orf47 | ENSG00000160392.14 | transcript | ENST00000683109.1 | protein_coding | 1886 | chr19 | TogoVar | ||||||
| FAM149A_chr4_186099704_186180337 | 186173611 | CCTCCCAA others(1983): Show |
C | splice_region_variant | LOW | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(92): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0005a0001c0010others(11): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(23): Show | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(91): Show | 95 | 390 | 0.2436 | -1990 | c.*16 others(11): Show |
FAM149A | ENSG00000109794.14 | transcript | ENST00000706927.1 | protein_coding | 14/14 | chr4 | TogoVar | ||||||
| PLD3_chr19_40343695_40383485 | 40350282 | AACTGCAT others(1983): Show |
A | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0283 | 1 | 364 | 0.0028 | -1990 | c.-27 others(19): Show |
PLD3 | ENSG00000105223.21 | transcript | ENST00000409735.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ADCY8_chr8_130775301_131045909 | 130838502 | GAGAAACT others(1981): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00639.hp2 others(47): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0136a0001c0001t0003g0041a0001c0001t0003g0155others(46): Show | 50 | 246 | 0.2033 | -1988 | c.250 others(19): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 11/17 | chr8 | TogoVar | ||||||
| VAPA_chr18_9909016_9965021 | 9932977 | GGGCGCCT others(1980): Show |
G | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0049a0001c0001t0008g0050 | 2 | 386 | 0.0052 | -1987 | c.232 others(17): Show |
VAPA | ENSG00000101558.14 | transcript | ENST00000400000.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| AHRR_chr5_316714_443285 | 357348 | TGGAGGCC others(1977): Show |
T | intron_variant | MODIFIER | HG01515.hp2 | a0003 | a0003c0004 | a0003c0004t0028 | a0003c0004t0028g0217 | 1 | 268 | 0.0037 | -1984 | c.244 others(17): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| NCK2_chr2_105739912_105899272 | 105822290 | ATCAGCTT others(1976): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG02970.hp1 HG02976.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0307a0001c0001t0001g0308a0001c0001t0001g0323 | 3 | 334 | 0.0090 | -1983 | c.-17 others(17): Show |
NCK2 | ENSG00000071051.14 | transcript | ENST00000233154.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| EXOC4_chr7_133248078_134070761 | 133422573 | AAACTGCA others(1974): Show |
A | intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0082 | 1 | 102 | 0.0098 | -1981 | c.118 others(21): Show |
EXOC4 | ENSG00000131558.15 | transcript | ENST00000253861.5 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| AHNAK2_chr14_104932253_104983374 | 104944681 | TGCCTTGG others(1973): Show |
T | disruptive_inframe_deletion | MODERATE | HG02273.hp2 | a0170 | a0170c0105 | a0170c0105t0002 | a0170c0105t0002g0076 | 1 | 356 | 0.0028 | -1980 | c.879 others(10): Show |
p.Glu others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 10906/18335 | 8790/17388 | 2930/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104948404 | CTCCACCT others(1973): Show |
C | disruptive_inframe_deletion | MODERATE | HG00099.hp2 | a0120 | a0120c0214 | a0120c0214t0002 | a0120c0214t0002g0062 | 1 | 356 | 0.0028 | -1980 | c.506 others(9): Show |
p.Ala others(15): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 7183/18335 | 5067/17388 | 1689/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104950587 | ACAGAGAC others(1973): Show |
A | conservative_inframe_deletion | MODERATE | HG01167.hp1 HG01169.hp1 |
a0051 | a0051c0051 | a0051c0051t0001 | a0051c0051t0001g0024 | 2 | 356 | 0.0056 | -1980 | c.288 others(9): Show |
p.Pro others(14): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 5000/18335 | 2884/17388 | 962/5795 | chr14 | TogoVar | ||
| AHNAK2_chr14_104932253_104983374 | 104950828 | CAGGTCAG others(1973): Show |
C | disruptive_inframe_deletion | MODERATE | HG03942.hp2 | a0065 | a0065c0203 | a0065c0203t0002 | a0065c0203t0002g0201 | 1 | 356 | 0.0028 | -1980 | c.264 others(9): Show |
p.Ser others(14): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 7/7 | 4759/18335 | 2643/17388 | 881/5795 | chr14 | TogoVar | ||
| ASMT_chrX_1610059_1648081 | 1639631 | AGATAGGG others(1972): Show |
A | intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0132 | 1 | 223 | 0.0045 | -1979 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| MFGE8_chr15_88893683_88918379 | 88916401 | TTGCTTGA others(1971): Show |
T | upstream_gene_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG03486.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0005a0001c0003t0001 | a0001c0002t0005g0056a0001c0003t0001g0163 | 3 | 436 | 0.0069 | -1978 | c.-50 others(11): Show |
MFGE8 | ENSG00000140545.16 | transcript | ENST00000268150.13 | protein_coding | 3023 | chr15 | TogoVar | ||||||
| RIN3_chr14_92508781_92693994 | 92646634 | TTCACCAT others(1971): Show |
T | intron_variant | MODIFIER | HG04228.hp1 | a0005 | a0005c0059 | a0005c0059t0001 | a0005c0059t0001g0115 | 1 | 334 | 0.0030 | -1978 | c.533 others(17): Show |
RIN3 | ENSG00000100599.16 | transcript | ENST00000216487.12 | protein_coding | 5/9 | chr14 | TogoVar | ||||||
| SLC15A4_chr12_128788194_128828958 | 128817903 | TGAGCTGC others(1971): Show |
T | intron_variant | MODIFIER | NA18951.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 418 | 0.0024 | -1978 | c.546 others(17): Show |
SLC15A4 | ENSG00000139370.12 | transcript | ENST00000266771.10 | protein_coding | 1/7 | chr12 | TogoVar | ||||||
| C2orf73_chr2_54325884_54366581 | 54338356 | GCTCAGGA others(1970): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(214): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0005others(8): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(14): Show | a0001c0001t0001g0006a0001c0001t0001g0011a0001c0001t0001g0012others(104): Show | 217 | 414 | 0.5242 | -1977 | c.234 others(17): Show |
C2orf73 | ENSG00000177994.16 | transcript | ENST00000398634.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ARHGEF18_chr19_7343937_7477478 | 7396554 | AAAATACA others(1969): Show |
A | intron_variant | MODIFIER | HG02683.hp1 HG02683.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0052a0001c0001t0002g0134 | 2 | 298 | 0.0067 | -1976 | c.967 others(19): Show |
ARHGEF18 | ENSG00000104880.19 | transcript | ENST00000668164.2 | protein_coding | 10/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| ASMT_chrX_1610059_1648081 | 1638264 | ATCCATCC others(1969): Show |
A | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0218 | 1 | 223 | 0.0045 | -1976 | c.910 others(17): Show |
ASMT | ENSG00000196433.13 | transcript | ENST00000381241.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| LUZP4_chrX_115284715_115312563 | 115307964 | AGTATTTC others(1969): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00735.hp1 HG01515.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0010a0001c0001t0003g0023a0001c0001t0003g0036others(3): Show | 11 | 280 | 0.0393 | -1976 | c.*11 others(11): Show |
LUZP4 | ENSG00000102021.11 | transcript | ENST00000371920.4 | protein_coding | 402 | chrX | TogoVar | ||||||
| PHYKPL_chr5_178203471_178237802 | 178217958 | CTGTAATC others(1969): Show |
C | intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0333 | 1 | 440 | 0.0023 | -1976 | c.927 others(17): Show |
PHYKPL | ENSG00000175309.15 | transcript | ENST00000308158.10 | protein_coding | 8/12 | chr5 | TogoVar | ||||||
| GPR39_chr2_132411805_132651582 | 132567851 | CGAGATCT others(1968): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0208a0001c0001t0012g0077 | 2 | 208 | 0.0096 | -1975 | c.857 others(19): Show |
GPR39 | ENSG00000183840.8 | transcript | ENST00000329321.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| DGKE_chr17_56829151_56874567 | 56872593 | GGGCCTTT others(1967): Show |
G | downstream_gene_variant | MODIFIER | NA18951.hp1 NA18967.hp2 NA19010.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0021a0001c0004t0001 | a0001c0001t0021g0079a0001c0001t0021g0080a0001c0004t0001g0004 | 5 | 324 | 0.0154 | -1974 | c.*98 others(12): Show |
DGKE | ENSG00000153933.10 | transcript | ENST00000284061.8 | protein_coding | 3027 | chr17 | TogoVar | ||||||
| HTR3E_chr3_184092064_184111995 | 184099474 | GGAGGCCG others(1967): Show |
G | exon_loss_variant others(4): Show |
HIGH | HG00609.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0182 | 1 | 422 | 0.0024 | -1974 | c.68- others(14): Show |
HTR3E | ENSG00000186038.9 | transcript | ENST00000415389.6 | protein_coding | 2/9 | chr3 | TogoVar | ||||||
| ADARB2_chr10_1172313_1742525 | 1235668 | CCCTCCCG others(1965): Show |
C | intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0057 | a0001c0001t0057g0103 | 1 | 106 | 0.0094 | -1972 | c.136 others(19): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
| ATAD5_chr17_30826966_30900869 | 30874120 | GTGCCACT others(1965): Show |
G | intron_variant | MODIFIER | HG03239.hp1 HG03704.hp2 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0217a0004c0004t0001g0218 | 2 | 286 | 0.0070 | -1972 | c.360 others(18): Show |
ATAD5 | ENSG00000176208.9 | transcript | ENST00000321990.5 | protein_coding | 14/22 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| TMEM163_chr2_134450759_134724000 | 134527352 | GAGGAAAC others(1963): Show |
G | intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0159 | 1 | 222 | 0.0045 | -1970 | c.458 others(19): Show |
TMEM163 | ENSG00000152128.13 | transcript | ENST00000281924.6 | protein_coding | 4/7 | chr2 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805535 | GCCCAGGG others(1962): Show |
G | downstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 314 | 0.0032 | -1969 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1249 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805535 | GCCCAGGG others(1962): Show |
G | upstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 319 | 0.0031 | -1969 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3657 | chr2 | TogoVar | ||||||
| GSG1L_chr16_27782528_28068714 | 27869114 | GGGTCTCC others(1960): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02970.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0010others(1): Show | a0001c0001t0001g0023a0001c0001t0006g0021a0001c0001t0006g0164others(2): Show | 5 | 240 | 0.0208 | -1967 | c.550 others(19): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 3/6 | chr16 | TogoVar | ||||||
| SH3D19_chr4_151115281_151330605 | 151167036 | CTAGCTAA others(1960): Show |
C | intron_variant | MODIFIER | HG02148.hp2 | a0014 | a0014c0015 | a0014c0015t0001 | a0014c0015t0001g0148 | 1 | 282 | 0.0036 | -1967 | c.153 others(19): Show |
SH3D19 | ENSG00000109686.20 | transcript | ENST00000604030.7 | protein_coding | 7/19 | chr4 | TogoVar | ||||||
| CHST12_chr7_2398611_2453484 | 2427950 | GGGACTAC others(1959): Show |
G | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0112 | a0001c0001t0112g0126 | 1 | 344 | 0.0029 | -1966 | c.-77 others(17): Show |
CHST12 | ENSG00000136213.10 | transcript | ENST00000618655.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| IQSEC3_chr12_61767_183455 | 131099 | CGCCATCT others(1959): Show |
C | intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0019 | a0001c0019t0034 | a0001c0019t0034g0244 | 1 | 282 | 0.0036 | -1966 | c.903 others(17): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| ARHGAP8_chr22_44747575_44867784 | 44863015 | GGGGTGAC others(1958): Show |
G | downstream_gene_variant | MODIFIER | NA19060.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0189 | 1 | 390 | 0.0026 | -1965 | c.*42 others(10): Show |
ARHGAP8 | ENSG00000241484.10 | transcript | ENST00000356099.11 | protein_coding | 232 | chr22 | TogoVar | ||||||
| GAL3ST2_chr2_241771822_241809287 | 241805560 | TCCCCCCT others(1958): Show |
T | downstream_gene_variant | MODIFIER | NA18983.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0247 | 1 | 314 | 0.0032 | -1965 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1274 | chr2 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805560 | TCCCCCCT others(1958): Show |
T | upstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0158 | 1 | 319 | 0.0031 | -1965 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3632 | chr2 | TogoVar | ||||||
| NRXN3_chr14_78165373_79873291 | 78880988 | TATGCTGT others(1958): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0013 | 1 | 24 | 0.0417 | -1965 | c.227 others(21): Show |
NRXN3 | ENSG00000021645.20 | transcript | ENST00000335750.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| MTMR3_chr22_29878174_30035868 | 29939622 | CTTTCTAT others(1957): Show |
C | intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0002 | a0001c0002t0043 | a0001c0002t0043g0227 | 1 | 334 | 0.0030 | -1964 | c.-13 others(21): Show |
MTMR3 | ENSG00000100330.16 | transcript | ENST00000401950.7 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| ZNF814_chr19_57864381_57894037 | 57883241 | CCAGCTAC others(1957): Show |
C | intron_variant | MODIFIER | NA18984.hp1 NA19072.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0043 | 2 | 434 | 0.0046 | -1964 | c.36+ others(15): Show |
ZNF814 | ENSG00000204514.11 | transcript | ENST00000435989.7 | protein_coding | 1/2 | chr19 | TogoVar | ||||||
| PKN2_chr1_88679273_88841255 | 88792180 | GGATCACC others(1956): Show |
G | intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251 | 1 | 330 | 0.0030 | -1963 | c.128 others(19): Show |
PKN2 | ENSG00000065243.20 | transcript | ENST00000370521.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CYP4F11_chr19_15907377_15939529 | 15931925 | GAGAGGAA others(1953): Show |
G | intron_variant | MODIFIER | HG01361.hp1 | a0003 | a0003c0024 | a0003c0024t0037 | a0003c0024t0037g0199 | 1 | 386 | 0.0026 | -1960 | c.198 others(16): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| PCDH11X_chrX_91774375_92628230 | 92423134 | GCCACCGC others(1953): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG01069.hp1 HG01358.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0055a0001c0001t0001g0073a0001c0001t0001g0098others(12): Show | 15 | 154 | 0.0974 | -1960 | c.334 others(21): Show |
PCDH11X | ENSG00000102290.23 | transcript | ENST00000682573.1 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| ADAMTSL3_chr15_83649123_84044842 | 83936231 | CATTTGTT others(1952): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02615.hp1 HG02809.hp2 others(4): Show |
a0001a0002a0017others(3): Show | a0001c0001a0002c0039a0002c0060others(4): Show | a0001c0001t0001a0002c0039t0001a0002c0060t0001others(4): Show | a0001c0001t0001g0053a0002c0039t0001g0058a0002c0060t0001g0245others(4): Show | 7 | 274 | 0.0256 | -1959 | c.211 others(19): Show |
ADAMTSL3 | ENSG00000156218.13 | transcript | ENST00000286744.10 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| CLTCL1_chr22_19174473_19296719 | 19248068 | AGGCAGAT others(1950): Show |
A | intron_variant | MODIFIER | NA19011.hp1 | a0006 | a0006c0008 | a0006c0008t0003 | a0006c0008t0003g0075 | 1 | 346 | 0.0029 | -1957 | c.519 others(17): Show |
CLTCL1 | ENSG00000070371.16 | transcript | ENST00000427926.6 | protein_coding | 3/32 | chr22 | TogoVar | ||||||
| TYR_chr11_89172875_89300759 | 89173814 | CGCATTTT others(1948): Show |
C | upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 306 | 0.0033 | -1955 | c.-41 others(11): Show |
TYR | ENSG00000077498.9 | transcript | ENST00000263321.6 | protein_coding | 4060 | chr11 | TogoVar | ||||||
| ZNF322_chr6_26629383_26664746 | 26656483 | CAAAACCC others(1948): Show |
C | intron_variant | MODIFIER | HG02074.hp2 NA18954.hp2 NA18961.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0019a0001c0001t0005g0189a0001c0001t0005g0190others(4): Show | 10 | 370 | 0.0270 | -1955 | c.-24 others(18): Show |
ZNF322 | ENSG00000181315.11 | transcript | ENST00000415922.7 | protein_coding | 2/3 | chr6 | TogoVar |