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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GLIS2_chr16_4311067_4344595 | 4344496 | C | CTGTGAGA others(1854): Show |
downstream_gene_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 75 | 0.0133 | 1861 | c.*69 others(1872): Show |
GLIS2 | ENSG00000126603.9 | transcript | ENST00000433375.2 | protein_coding | 4902 | chr16 | TogoVar | |||||||
JAG2_chr14_105135995_105173776 | 105162689 | A | ACCCCAAA others(1854): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 | 1 | 360 | 0.0028 | 1861 | c.418 others(1878): Show |
JAG2 | ENSG00000184916.9 | transcript | ENST00000331782.8 | protein_coding | 2/25 | chr14 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(1854): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 2 | 66 | 0.0303 | 1861 | c.4-1 others(1874): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(1854): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0088 | 1 | 65 | 0.0154 | 1861 | c.4-1 others(1874): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344496 | C | CTGTGAGA others(1854): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 65 | 0.0154 | 1861 | c.4-1 others(1874): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
PCCA_chr13_100084093_100535435 | 100451904 | C | CCTCTCTC others(1854): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0082 | 1 | 5 | 0.2000 | 1861 | c.189 others(1880): Show |
PCCA | ENSG00000175198.17 | transcript | ENST00000376285.6 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TACATATT others(1854): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 8 | 0.1250 | 1861 | c.-20 others(1872): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1855): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 50 | 0.0200 | 1862 | c.147 others(1879): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(1855): Show |
intron_variant | MODIFIER | HG00621.hp1 HG01258.hp1 HG02132.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0011a0002c0005t0002 | a0001c0001t0001g0059 a0001c0001t0001g0063 a0001c0001t0001g0078 others(3): Show |
6 | 18 | 0.3333 | 1862 | c.354 others(1881): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
JAKMIP3_chr10_132060946_132189858 | 132173044 | C | CCTCTCCT others(1855): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0005 | a0005c0012 | a0005c0012t0010 | a0005c0012t0010g0004 | 1 | 117 | 0.0085 | 1862 | c.*11 others(1883): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
MYLK4_chr6_2658637_2755922 | 2694524 | G | GTGGTGGT others(1855): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 | 1 | 4 | 0.2500 | 1862 | c.160 others(1879): Show |
MYLK4 | ENSG00000145949.12 | transcript | ENST00000274643.9 | protein_coding | 2/12 | chr6 | TogoVar | |||||||
RELCH_chr18_62182255_62315249 | 62278583 | T | TTCTGTGA others(1855): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 338 | 0.0030 | 1862 | c.296 others(1881): Show |
RELCH | ENSG00000134444.15 | transcript | ENST00000644646.2 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289996 | T | TCCGTCCC others(1855): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0001 | 1 | 265 | 0.0038 | 1862 | c.166 others(1879): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(1855): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0118 | 1 | 208 | 0.0048 | 1862 | c.115 others(1879): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(1855): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 208 | 0.0048 | 1862 | c.115 others(1879): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SUPV3L1_chr10_69175234_69214093 | 69213563 | A | AAGGCCAC others(1855): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 HG02895.hp2 HG02896.hp1 |
a0001 | a0001c0004a0001c0005 | a0001c0004t0001a0001c0005t0001 | a0001c0004t0001g0049 a0001c0004t0001g0217 a0001c0005t0001g0216 |
3 | 324 | 0.0093 | 1862 | c.*45 others(1873): Show |
SUPV3L1 | ENSG00000156502.14 | transcript | ENST00000359655.9 | protein_coding | 4471 | chr10 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129828766 | G | GGGAGGAA others(1855): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0070 | 1 | 91 | 0.0110 | 1862 | c.79+ others(1879): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1855): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 146 | 0.0068 | 1862 | c.114 others(1879): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
WDR7_chr18_56646359_57034792 | 57024580 | A | AATTTCAC others(1855): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0102 | 1 | 94 | 0.0106 | 1862 | c.427 others(1881): Show |
WDR7 | ENSG00000091157.15 | transcript | ENST00000254442.8 | protein_coding | 27/27 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 478076 | G | GGGGAAGG others(1856): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0009 | a0001c0009t0003 | a0001c0009t0003g0003 | 1 | 52 | 0.0192 | 1863 | c.158 others(1880): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
DNAH14_chr1_224924675_225404286 | 224982160 | T | TAGAACTA others(1856): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0031 | a0031c0085 | a0031c0085t0001 | a0031c0085t0001g0098 | 1 | 238 | 0.0042 | 1863 | c.830 others(1880): Show |
DNAH14 | ENSG00000185842.16 | transcript | ENST00000682510.1 | protein_coding | 8/85 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ENTREP2_chr15_29115252_29575979 | 29558678 | C | CCTCCCAC others(1856): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0008 | a0008c0025 | a0008c0025t0002 | a0008c0025t0002g0090 | 1 | 3 | 0.3333 | 1863 | c.219 others(1882): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 1/10 | chr15 | TogoVar | |||||||
GALM_chr2_38661114_38739765 | 38711801 | C | CATCATCA others(1856): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 285 | 0.0035 | 1863 | c.635 others(1882): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GALM_chr2_38661114_38739765 | 38711801 | C | CATCATCA others(1856): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0035 | 1 | 285 | 0.0035 | 1863 | c.635 others(1882): Show |
GALM | ENSG00000143891.17 | transcript | ENST00000272252.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997208 | G | GGGGGTGG others(1856): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 | a0003 | a0003c0004 | a0003c0004t0005 | a0003c0004t0005g0349 | 1 | 304 | 0.0033 | 1863 | c.-22 others(1874): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 462 | chr6 | TogoVar | |||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1856): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 | 1 | 3 | 0.3333 | 1863 | c.340 others(1880): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877558 | T | TGGAGGTG others(1856): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 216 | 0.0046 | 1863 | c.224 others(1882): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1861897 | A | ACAGCCTG others(1856): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0067 | 1 | 8 | 0.1250 | 1863 | c.271 others(1884): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 18/24 | chr2 | TogoVar | |||||||
MYT1L_chr2_1784113_2336275 | 1861897 | A | ACAGCCTG others(1856): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0020 | a0001c0020t0004 | a0001c0020t0004g0081 | 1 | 8 | 0.1250 | 1863 | c.271 others(1884): Show |
MYT1L | ENSG00000186487.21 | transcript | ENST00000647738.2 | protein_coding | 18/24 | chr2 | TogoVar | |||||||
PAM16_chr16_4335251_4356321 | 4344478 | C | CTGTGAGA others(1856): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 325 | 0.0031 | 1863 | c.4-1 others(1876): Show |
PAM16 | ENSG00000217930.8 | transcript | ENST00000318059.8 | protein_coding | 1/4 | chr16 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 314894 | T | TCCACCTC others(1856): Show |
intron_variant | MODIFIER | HG02572.hp1 HG02622.hp2 HG02886.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0011 | a0001c0001t0001a0001c0001t0005a0001c0001t0017others(1): Show | a0001c0001t0001g0104 a0001c0001t0005g0132 a0001c0001t0017g0070 others(2): Show |
5 | 127 | 0.0394 | 1863 | c.351 others(1880): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(1856): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0063 | 1 | 259 | 0.0039 | 1863 | c.101 others(1882): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432147 | C | CAGGGTGG others(1856): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0342 | 1 | 184 | 0.0054 | 1863 | c.101 others(1880): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414399 | G | GGGGGGGC others(1856): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0281 | 1 | 312 | 0.0032 | 1863 | c.115 others(1880): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SUPV3L1_chr10_69175234_69214093 | 69213563 | A | AAGGCCAC others(1856): Show |
downstream_gene_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0049 | 1 | 322 | 0.0031 | 1863 | c.*45 others(1874): Show |
SUPV3L1 | ENSG00000156502.14 | transcript | ENST00000359655.9 | protein_coding | 4471 | chr10 | TogoVar | |||||||
TMEM178B_chr7_141069064_141485380 | 141337156 | C | CACCACCA others(1856): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0059 | 1 | 34 | 0.0294 | 1863 | c.497 others(1884): Show |
TMEM178B | ENSG00000261115.7 | transcript | ENST00000565468.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TMEM242_chr6_157284025_157328519 | 157311749 | T | TCCCAGTG others(1856): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01256.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 a0001c0001t0001g0042 |
2 | 333 | 0.0060 | 1863 | c.327 others(1880): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1856): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 50 | 0.0200 | 1863 | c.*24 others(1874): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
DCLK1_chr13_35763652_36136382 | 35958131 | A | ACTGTAAC others(1857): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0064 | 1 | 45 | 0.0222 | 1864 | c.724 others(1883): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185090 | C | CCCCTTCT others(1857): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0115 | a0001c0115t0003 | a0001c0115t0003g0121 | 1 | 147 | 0.0068 | 1864 | c.193 others(1883): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
KIF25_chr6_167992671_168050091 | 167997140 | G | GCGGGGGA others(1857): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0019 | a0001c0019t0018 | a0001c0019t0018g0271 | 1 | 367 | 0.0027 | 1864 | c.-23 others(1875): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 530 | chr6 | TogoVar | |||||||
MBNL2_chr13_97217333_97399120 | 97339102 | G | GTGTGCTA others(1857): Show |
intron_variant | MODIFIER | HG00140.hp2 HG02300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0241 a0001c0001t0001g0242 |
2 | 4 | 0.5000 | 1864 | c.340 others(1881): Show |
MBNL2 | ENSG00000139793.21 | transcript | ENST00000679496.1 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124439008 | C | CAGAGGGA others(1857): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03453.hp2 NA18522.hp2 |
a0001a0002a0024 | a0001c0084a0002c0109a0024c0065 | a0001c0084t0003a0002c0109t0001a0024c0065t0014 | a0001c0084t0003g0121 a0002c0109t0001g0205 a0024c0065t0014g0114 |
3 | 184 | 0.0163 | 1864 | c.816 others(1881): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
NUP93_chr16_56725129_56855286 | 56739517 | G | GGGGGGGC others(1857): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0002 | a0002c0008 | a0002c0008t0002 | a0002c0008t0002g0298 | 1 | 290 | 0.0034 | 1864 | c.-14 others(1881): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 304161 | G | GATGGGGA others(1857): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0039 | 1 | 102 | 0.0098 | 1864 | c.351 others(1883): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414469 | G | GCTGGGTG others(1857): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0240 | 1 | 110 | 0.0091 | 1864 | c.115 others(1881): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325156 | G | GGGGGGCG others(1857): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0106 | 1 | 142 | 0.0070 | 1864 | c.531 others(1881): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SUPV3L1_chr10_69175234_69214093 | 69213563 | A | AAGGCCAC others(1857): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0218 | 1 | 322 | 0.0031 | 1864 | c.*45 others(1875): Show |
SUPV3L1 | ENSG00000156502.14 | transcript | ENST00000359655.9 | protein_coding | 4471 | chr10 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311749 | T | TCCCAGTG others(1857): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 332 | 0.0030 | 1864 | c.327 others(1881): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(1857): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 62 | 0.0161 | 1864 | c.*53 others(1875): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar |