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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SERINC2_chr1_31408213_31439678 | 31431777 | A | ATAGGGTG others(1046): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 2 | 338 | 0.0059 | 1053 | c.101 others(1072): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431778 | T | TAGGGTGG others(1046): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0010 | a0010c0015 | a0010c0015t0023 | a0010c0015t0023g0077 | 1 | 322 | 0.0031 | 1053 | c.101 others(1072): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431953 | G | GTGGACAG others(1046): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0318 | 1 | 365 | 0.0027 | 1053 | c.101 others(1072): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432174 | T | TAGGGTGG others(1046): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0189 | 1 | 228 | 0.0044 | 1053 | c.101 others(1070): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(1046): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 3 | 0.3333 | 1053 | c.597 others(1070): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241590826 | G | GCAGAGCT others(1046): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0201 | 1 | 346 | 0.0029 | 1053 | c.161 others(1072): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
THEG_chr19_356747_381026 | 377132 | C | CTGTGCCC others(1046): Show |
upstream_gene_variant | MODIFIER | NA19004.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0113 | 1 | 357 | 0.0028 | 1053 | c.-11 others(1064): Show |
THEG | ENSG00000105549.11 | transcript | ENST00000342640.9 | protein_coding | 1107 | chr19 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930878 | G | GGGGTTAG others(1046): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG03041.hp1 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015 | a0001c0001t0001g0105 a0001c0001t0003g0009 a0001c0001t0015g0045 |
4 | 374 | 0.0107 | 1053 | c.*47 others(1064): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4491 | chr11 | TogoVar | |||||||
TP53AIP1_chr11_128930370_128947871 | 128930878 | G | GGGGTTAG others(1046): Show |
downstream_gene_variant | MODIFIER | NA18906.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 | 2 | 372 | 0.0054 | 1053 | c.*47 others(1064): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4491 | chr11 | TogoVar | |||||||
WDR70_chr5_37374318_37758435 | 37557914 | A | AACTCTTC others(1046): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0083 | 1 | 102 | 0.0098 | 1053 | c.917 others(1072): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ACAP3_chr1_1287391_1312930 | 1290128 | C | CCCCGTGT others(1047): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0146 | 1 | 228 | 0.0044 | 1054 | c.*34 others(1065): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2262 | chr1 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1047): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 52 | 0.0192 | 1054 | c.927 others(1071): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79336167 | G | GTGCCCTC others(1047): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0021 | 1 | 232 | 0.0043 | 1054 | c.202 others(1071): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 17/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC88C_chr14_91266323_91422820 | 91293498 | A | ACCCGCCA others(1047): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 229 | 0.0044 | 1054 | c.411 others(1071): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293498 | A | ACCCGCCA others(1047): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0005 | a0005c0057 | a0005c0057t0001 | a0005c0057t0001g0249 | 1 | 229 | 0.0044 | 1054 | c.411 others(1071): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(1047): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0226 a0001c0001t0006g0227 |
2 | 65 | 0.0308 | 1054 | c.294 others(1071): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
COL23A1_chr5_178232618_178595393 | 178585737 | C | CCTGGATG others(1047): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0004 | a0004c0006 | a0004c0006t0003 | a0004c0006t0003g0143 | 1 | 227 | 0.0044 | 1054 | c.294 others(1071): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
DCDC2C_chr2_3698575_3853008 | 3725401 | G | GGCAGAGA others(1047): Show |
intron_variant | MODIFIER | HG02109.hp1 NA19240.hp1 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0023 a0001c0006t0001g0024 |
2 | 175 | 0.0114 | 1054 | c.340 others(1071): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725599 | A | AGGTGGAT others(1047): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0065 | 1 | 190 | 0.0053 | 1054 | c.340 others(1071): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1047): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0061 | a0061c0057 | a0061c0057t0001 | a0061c0057t0001g0164 | 1 | 98 | 0.0102 | 1054 | c.118 others(1073): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328653 | T | TACACAGG others(1047): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 75 | 0.0133 | 1054 | c.199 others(1073): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137328653 | T | TACACGGG others(1047): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 75 | 0.0133 | 1054 | c.199 others(1073): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | |||||||
GJB3_chr1_34776214_34791364 | 34777717 | A | ATCATCAC others(1047): Show |
upstream_gene_variant | MODIFIER | HG02040.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 | 1 | 396 | 0.0025 | 1054 | c.-40 others(1065): Show |
GJB3 | ENSG00000188910.8 | transcript | ENST00000373366.3 | protein_coding | 3496 | chr1 | TogoVar | |||||||
GTPBP6_chrX_299759_323796 | 315685 | T | TACACACG others(1047): Show |
intron_variant | MODIFIER | NA18967.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0136 | 1 | 31 | 0.0323 | 1054 | c.488 others(1069): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 2/9 | chrX | TogoVar | |||||||
IL18R1_chr2_102350796_102403776 | 102352800 | T | TAATATAA others(1047): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0003 | a0001c0003t0007 | a0001c0003t0007g0043 | 1 | 249 | 0.0040 | 1054 | c.-36 others(1065): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2995 | chr2 | TogoVar | |||||||
LHPP_chr10_124456823_124619141 | 124507236 | G | GGTAGACA others(1047): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0038 | 1 | 207 | 0.0048 | 1054 | c.624 others(1071): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(1047): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0111 | 1 | 4 | 0.2500 | 1054 | c.279 others(1069): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
OPA1_chr3_193588208_193702811 | 193636369 | T | TGGCAATT others(1047): Show |
intron_variant | MODIFIER | HG01978.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0213 | 1 | 254 | 0.0039 | 1054 | c.949 others(1069): Show |
OPA1 | ENSG00000198836.11 | transcript | ENST00000361510.8 | protein_coding | 9/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(1047): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0077 | a0077c0106 | a0077c0106t0001 | a0077c0106t0001g0246 | 1 | 34 | 0.0294 | 1054 | c.299 others(1069): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
RAB40B_chr17_82649973_82703698 | 82671976 | C | CACACCCT others(1047): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0124 | 1 | 131 | 0.0076 | 1054 | c.143 others(1071): Show |
RAB40B | ENSG00000141542.11 | transcript | ENST00000571995.6 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
RASGEF1C_chr5_180095795_180214211 | 180134844 | C | CCATCCAC others(1047): Show |
intron_variant | MODIFIER | HG03834.hp1 NA18978.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0103 a0001c0002t0002g0114 |
2 | 3 | 0.6667 | 1054 | c.438 others(1071): Show |
RASGEF1C | ENSG00000146090.16 | transcript | ENST00000361132.9 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77322918 | A | ATATATTA others(1047): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0153 | 1 | 133 | 0.0075 | 1054 | c.389 others(1075): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTATATTA others(1047): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 119 | 0.0084 | 1054 | c.389 others(1075): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SBNO2_chr19_1102638_1179268 | 1142161 | A | ACTCAATG others(1047): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0109 | 1 | 7 | 0.1429 | 1054 | c.279 others(1071): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1142161 | A | ACTCAATG others(1047): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02572.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0032a0004c0012 | a0001c0001t0001a0001c0032t0001a0004c0012t0002 | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0076 others(5): Show |
8 | 14 | 0.5714 | 1054 | c.279 others(1071): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1142161 | A | ACTCAATG others(1047): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0012 | 1 | 7 | 0.1429 | 1054 | c.279 others(1071): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 4/31 | chr19 | TogoVar | |||||||
SCNN1D_chr1_1275436_1297025 | 1290128 | C | CCCCGTGT others(1047): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0028 | 1 | 226 | 0.0044 | 1054 | c.166 others(1071): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC44A5_chr1_75197129_75616114 | 75280140 | A | ATATATAG others(1047): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0080 | 1 | 143 | 0.0070 | 1054 | c.176 others(1071): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246325271 | G | GGGGGCGG others(1047): Show |
intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 78 | 0.0128 | 1054 | c.531 others(1071): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747895 | G | GCACTGGG others(1047): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0127 | 1 | 230 | 0.0043 | 1054 | c.189 others(1069): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747895 | G | GCTGGGGT others(1047): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0158 | 1 | 230 | 0.0043 | 1054 | c.189 others(1069): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870451 | A | ACACCCCA others(1047): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 323 | 0.0031 | 1054 | c.*35 others(1073): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870794 | A | ACACCCCA others(1047): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 316 | 0.0032 | 1054 | c.*35 others(1073): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ULK1_chr12_131889622_131928150 | 131917167 | C | CGGAGGCT others(1047): Show |
intron_variant | MODIFIER | NA18957.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 | 1 | 68 | 0.0147 | 1054 | c.218 others(1071): Show |
ULK1 | ENSG00000177169.10 | transcript | ENST00000321867.6 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
VCX3A_chrX_6528618_6540118 | 6532869 | A | ACACCTCC others(1047): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0002 | 1 | 52 | 0.0192 | 1054 | c.*87 others(1063): Show |
VCX3A | ENSG00000169059.13 | transcript | ENST00000381089.7 | protein_coding | 748 | chrX | TogoVar | |||||||
AHRR_chr5_316714_443285 | 344423 | A | ATGTGTGA others(1048): Show |
intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0077 | 1 | 57 | 0.0175 | 1055 | c.62+ others(1068): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344423 | A | ATGTGTGA others(1048): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0112 | 1 | 57 | 0.0175 | 1055 | c.62+ others(1068): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 980172 | G | GGTGCCGT others(1048): Show |
intron_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0209 | 1 | 266 | 0.0038 | 1055 | c.604 others(1070): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1048): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0149 | 1 | 3 | 0.3333 | 1055 | c.787 others(1070): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687370 | C | CCCCGTGA others(1048): Show |
upstream_gene_variant | MODIFIER | HG02004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 227 | 0.0044 | 1055 | c.-17 others(1066): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1525 | chr8 | TogoVar |