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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1054): Show |
intron_variant | MODIFIER | HG04228.hp2 NA18747.hp2 NA18957.hp2 others(4): Show |
a0007a0013a0016 | a0007c0003a0013c0119a0016c0029 | a0007c0003t0001a0007c0003t0003a0013c0119t0001others(1): Show | a0007c0003t0001g0203a0007c0003t0001g0204a0007c0003t0001g0205others(4): Show | 7 | 228 | 0.0307 | 1061 | c.252 others(1080): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(1054): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0117 | 1 | 208 | 0.0048 | 1061 | c.279 others(1076): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | ||||||
NT5C1A_chr1_39646229_39677107 | 39664492 | T | TGTCTCCT others(1054): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0265 | 1 | 326 | 0.0031 | 1061 | c.433 others(1078): Show |
NT5C1A | ENSG00000116981.4 | transcript | ENST00000235628.2 | protein_coding | 3/5 | chr1 | TogoVar | ||||||
OPA1_chr3_193588208_193702811 | 193636369 | T | TGGCAATT others(1054): Show |
intron_variant | MODIFIER | HG00423.hp1 HG01934.hp2 HG02080.hp2 others(26): Show |
a0002 | a0002c0002a0002c0009 | a0002c0002t0001a0002c0002t0002a0002c0002t0007others(3): Show | a0002c0002t0001g0125a0002c0002t0001g0126a0002c0002t0001g0127others(26): Show | 29 | 388 | 0.0747 | 1061 | c.949 others(1076): Show |
OPA1 | ENSG00000198836.11 | transcript | ENST00000361510.8 | protein_coding | 9/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
OPA1_chr3_193588208_193702811 | 193636369 | T | TGGCAATT others(1054): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01516.hp2 HG02258.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0020 | a0002c0002t0001g0217a0002c0002t0001g0219a0002c0002t0020g0223 | 3 | 388 | 0.0077 | 1061 | c.949 others(1076): Show |
OPA1 | ENSG00000198836.11 | transcript | ENST00000361510.8 | protein_coding | 9/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
OPRPN_chr4_70392940_70415195 | 70413203 | G | GTGTGTAT others(1054): Show |
downstream_gene_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 456 | 0.0022 | 1061 | c.*31 others(1072): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 3009 | chr4 | TogoVar | ||||||
OSBPL5_chr11_3082107_3170310 | 3097061 | A | AAGGGGGA others(1054): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0022a0001c0001t0005g0055a0001c0001t0005g0282others(2): Show | 5 | 326 | 0.0153 | 1061 | c.162 others(1080): Show |
OSBPL5 | ENSG00000021762.20 | transcript | ENST00000263650.12 | protein_coding | 14/21 | chr11 | TogoVar | ||||||
TRAF6_chr11_36478769_36515272 | 36507324 | C | CATACATA others(1054): Show |
intron_variant | MODIFIER | HG02055.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0031 | 2 | 388 | 0.0052 | 1061 | c.-23 others(1078): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
TRAF6_chr11_36478769_36515272 | 36507324 | C | CATACATA others(1054): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0227 | 1 | 388 | 0.0026 | 1061 | c.-23 others(1078): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
U2AF2_chr19_55650035_55679716 | 55670449 | C | CCCGTGCA others(1054): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0257 | 1 | 394 | 0.0025 | 1061 | c.129 others(1078): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1054): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 394 | 0.0025 | 1061 | c.129 others(1078): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1054): Show |
intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0270 | 1 | 394 | 0.0025 | 1061 | c.129 others(1078): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZBTB34_chr9_126855639_126890878 | 126876163 | C | CTTCCCCC others(1054): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0089 | 1 | 246 | 0.0041 | 1061 | c.-10 others(1078): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ANXA2_chr15_60342151_60402986 | 60349957 | C | CAGGGGAA others(1055): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 334 | 0.0030 | 1062 | c.838 others(1077): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60350047 | G | GAGGGGAA others(1055): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0220 | 1 | 334 | 0.0030 | 1062 | c.838 others(1077): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 11/12 | chr15 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1055): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0044 | 1 | 238 | 0.0042 | 1062 | c.787 others(1077): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835481 | T | TGCAGCCT others(1055): Show |
downstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 391 | 0.0026 | 1062 | c.*36 others(1073): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3464 | chr19 | TogoVar | ||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1055): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0047 | a0047c0085 | a0047c0085t0001 | a0047c0085t0001g0129 | 1 | 278 | 0.0036 | 1062 | c.328 others(1079): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | ||||||
CUL4A_chr13_113204613_113272108 | 113232147 | C | CATTACTG others(1055): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0114 | 1 | 396 | 0.0025 | 1062 | c.513 others(1079): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(1055): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 396 | 0.0025 | 1062 | c.513 others(1079): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | ||||||
CXorf51A_chrX_146809106_146819744 | 146812296 | T | TACACATA others(1055): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 HG02896.hp1 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 264 | 0.0152 | 1062 | c.*19 others(1073): Show |
CXorf51A | ENSG00000224440.2 | transcript | ENST00000458472.2 | protein_coding | 1809 | chrX | TogoVar | ||||||
CXorf51B_chrX_146804771_146815411 | 146812296 | T | TACACATA others(1055): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02965.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 5 | 272 | 0.0184 | 1062 | c.*19 others(1073): Show |
CXorf51B | ENSG00000235699.3 | transcript | ENST00000438525.3 | protein_coding | 1886 | chrX | TogoVar | ||||||
DIP2C_chr10_269201_694668 | 478084 | G | GAGGGGAA others(1055): Show |
intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0022 | a0001c0022t0003 | a0001c0022t0003g0002 | 1 | 88 | 0.0114 | 1062 | c.158 others(1079): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1055): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0074 | a0074c0106 | a0074c0106t0001 | a0074c0106t0001g0103 | 1 | 252 | 0.0040 | 1062 | c.118 others(1081): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(1055): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 418 | 0.0024 | 1062 | c.119 others(1081): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
FBXL14_chr12_1560993_1599581 | 1574377 | G | GGTGTGGG others(1055): Show |
intron_variant | MODIFIER | NA18940.hp1 NA19085.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0291a0001c0001t0002g0306 | 2 | 418 | 0.0048 | 1062 | c.119 others(1081): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | ||||||
GPIHBP1_chr8_143208218_143222170 | 143218345 | C | CCCAACAC others(1055): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0003 | 1 | 106 | 0.0094 | 1062 | c.*28 others(1073): Show |
GPIHBP1 | ENSG00000277494.2 | transcript | ENST00000622500.2 | protein_coding | 1176 | chr8 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399424 | T | TCATCACC others(1055): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0115 | 1 | 314 | 0.0032 | 1062 | c.-25 others(1079): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
IGSF9B_chr11_133891438_133961968 | 133932577 | G | GACAGACA others(1055): Show |
intron_variant | MODIFIER | HG03654.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 2 | 362 | 0.0055 | 1062 | c.968 others(1077): Show |
IGSF9B | ENSG00000080854.16 | transcript | ENST00000533871.8 | protein_coding | 7/19 | chr11 | TogoVar | ||||||
IL3RA_chrX_1331785_1387689 | 1360946 | C | CCTCTCTG others(1055): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0086 | 1 | 115 | 0.0087 | 1062 | c.759 others(1079): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
INPP5A_chr10_132532787_132788480 | 132775188 | G | GGGGCAGG others(1055): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 204 | 0.0049 | 1062 | c.978 others(1079): Show |
INPP5A | ENSG00000068383.19 | transcript | ENST00000368594.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LMF1_chr16_848634_975984 | 950204 | T | TGACAGTC others(1055): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0033 | a0001c0033t0001 | a0001c0033t0001g0275 | 1 | 294 | 0.0034 | 1062 | c.503 others(1079): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(1055): Show |
upstream_gene_variant | MODIFIER | NA19067.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 422 | 0.0024 | 1062 | c.-30 others(1073): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1055): Show |
upstream_gene_variant | MODIFIER | HG02602.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 422 | 0.0024 | 1062 | c.-29 others(1073): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1055): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 HG02647.hp2 NA18906.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 3 | 422 | 0.0071 | 1062 | c.-29 others(1073): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1055): Show |
upstream_gene_variant | MODIFIER | HG01516.hp1 HG03710.hp1 NA20129.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 3 | 422 | 0.0071 | 1062 | c.-29 others(1073): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256767 | A | ATAGTCAC others(1055): Show |
upstream_gene_variant | MODIFIER | HG03654.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 422 | 0.0024 | 1062 | c.-29 others(1073): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2919 | chr1 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3583558 | G | GCAGCCAC others(1055): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0059 | 1 | 292 | 0.0034 | 1062 | c.377 others(1079): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
MICAL3_chr22_17782649_18029561 | 17877016 | T | TAGGGAGG others(1055): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0152 | 1 | 274 | 0.0037 | 1062 | c.224 others(1081): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
OPA1_chr3_193588208_193702811 | 193636369 | T | TGGCAATT others(1055): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0133 | 1 | 388 | 0.0026 | 1062 | c.949 others(1077): Show |
OPA1 | ENSG00000198836.11 | transcript | ENST00000361510.8 | protein_coding | 9/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
OPA1_chr3_193588208_193702811 | 193636369 | T | TGGCAATT others(1055): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0214 | 1 | 388 | 0.0026 | 1062 | c.949 others(1077): Show |
OPA1 | ENSG00000198836.11 | transcript | ENST00000361510.8 | protein_coding | 9/30 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PJA2_chr5_109329722_109414974 | 109354509 | T | TATAGATT others(1055): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0059 | 1 | 346 | 0.0029 | 1062 | c.176 others(1081): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 492363 | T | TCCCGGGG others(1055): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 295 | 0.0034 | 1062 | c.126 others(1081): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
RASA3_chr13_113972783_114137623 | 114099624 | C | CCCCCCCA others(1055): Show |
intron_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0011 | 1 | 67 | 0.0149 | 1062 | c.56- others(1079): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 1/23 | chr13 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80743929 | C | CCCTGGCT others(1055): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0037 | a0001c0037t0004 | a0001c0037t0004g0145 | 1 | 196 | 0.0051 | 1062 | c.655 others(1081): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80744677 | T | TAGCACTG others(1055): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0013 | a0001c0013t0013 | a0001c0013t0013g0062 | 1 | 196 | 0.0051 | 1062 | c.655 others(1079): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(1055): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0217 | 1 | 376 | 0.0027 | 1062 | c.101 others(1081): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
TMEM120B_chr12_121707752_121787068 | 121747269 | G | GCTGGGGT others(1055): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0024 | 1 | 314 | 0.0032 | 1062 | c.189 others(1079): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
TMEM255B_chr13_113754226_113821995 | 113817317 | T | TCCTCCCC others(1055): Show |
downstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0230 | 1 | 260 | 0.0039 | 1062 | c.*54 others(1073): Show |
TMEM255B | ENSG00000184497.13 | transcript | ENST00000375353.5 | protein_coding | 323 | chr13 | TogoVar | ||||||
TRAPPC12_chr2_3374694_3484565 | 3437337 | C | CCACCCCT others(1055): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0002 | a0002c0009 | a0002c0009t0002 | a0002c0009t0002g0071 | 1 | 344 | 0.0029 | 1062 | c.141 others(1081): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |