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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PLEK2_chr14_67381984_67417165 | 67396241 | A | AGGTTCAA others(3257): Show |
intron_variant | MODIFIER | NA18975.hp1 NA18986.hp2 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095a0001c0001t0001g0109a0001c0001t0001g0115 | 3 | 354 | 0.0085 | 3264 | c.208 others(3279): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
PLEK2_chr14_67381984_67417165 | 67396241 | A | AGGTTCAA others(3257): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02970.hp1 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0165 | 3 | 354 | 0.0085 | 3264 | c.208 others(3279): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
PLEK2_chr14_67381984_67417165 | 67396241 | A | AGGTTCAA others(3257): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 354 | 0.0028 | 3264 | c.208 others(3279): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
PLEK2_chr14_67381984_67417165 | 67396241 | A | AGGTTCAA others(3257): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 354 | 0.0028 | 3264 | c.208 others(3279): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
PLEK2_chr14_67381984_67417165 | 67396241 | A | AGGTTCAA others(3257): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00544.hp2 others(83): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0009a0002c0003others(2): Show | a0001c0001t0001a0001c0009t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0012others(48): Show | 86 | 354 | 0.2429 | 3264 | c.208 others(3279): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
PLEK2_chr14_67381984_67417165 | 67396241 | A | AGGTTCAA others(3257): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02572.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0164 | 3 | 354 | 0.0085 | 3264 | c.208 others(3279): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
PLEK2_chr14_67381984_67417165 | 67396241 | A | AGGTTCAA others(3257): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 354 | 0.0028 | 3264 | c.208 others(3279): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3258): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0003 | a0003c0038 | a0003c0038t0003 | a0003c0038t0003g0293 | 1 | 318 | 0.0031 | 3265 | c.813 others(3282): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3258): Show |
intron_variant | MODIFIER | HG00099.hp2 NA18990.hp1 NA19002.hp2 |
a0003 | a0003c0002a0003c0009 | a0003c0002t0002a0003c0009t0003 | a0003c0002t0002g0184a0003c0002t0002g0205a0003c0009t0003g0209 | 3 | 318 | 0.0094 | 3265 | c.813 others(3282): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3258): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0008 | a0008c0006 | a0008c0006t0005 | a0008c0006t0005g0063 | 1 | 318 | 0.0031 | 3265 | c.813 others(3282): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185033 | C | CCCCCTTC others(3258): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0057 | a0057c0104 | a0057c0104t0002 | a0057c0104t0002g0007 | 1 | 174 | 0.0058 | 3265 | c.193 others(3284): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
IFNAR1_chr21_33319970_33364864 | 33322664 | T | TACGGAAT others(3258): Show |
upstream_gene_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0180 | 1 | 323 | 0.0031 | 3265 | c.-23 others(3276): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2305 | chr21 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(3258): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0009 | a0009c0009 | a0009c0009t0005 | a0009c0009t0005g0153 | 1 | 292 | 0.0034 | 3265 | c.218 others(3280): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
MPG_chr16_73225_90846 | 82089 | G | GCCCCTTC others(3258): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0122 | 1 | 442 | 0.0023 | 3265 | c.301 others(3280): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NPRL3_chr16_80386_143673 | 82089 | G | GCCCCTTC others(3258): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0014 | a0001c0014t0021 | a0001c0014t0021g0277 | 1 | 350 | 0.0029 | 3265 | c.*46 others(3276): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3296 | chr16 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(3258): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0083 | 1 | 266 | 0.0038 | 3265 | c.-34 others(3280): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(3258): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0084 | 1 | 266 | 0.0038 | 3265 | c.-34 others(3280): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PLEK2_chr14_67381984_67417165 | 67396241 | A | AGGTTCAA others(3258): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 354 | 0.0028 | 3265 | c.208 others(3280): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
PLEK2_chr14_67381984_67417165 | 67396241 | A | AGGTTCAA others(3258): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02155.hp2 HG02572.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097a0001c0001t0001g0117a0001c0001t0001g0119others(2): Show | 5 | 354 | 0.0141 | 3265 | c.208 others(3280): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
PLEK2_chr14_67381984_67417165 | 67396241 | A | AGGTTCAA others(3258): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 354 | 0.0028 | 3265 | c.208 others(3280): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
PLEK2_chr14_67381984_67417165 | 67396241 | A | AGGTTCAA others(3258): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02895.hp1 HG03209.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032a0001c0001t0001g0035a0001c0001t0001g0128others(2): Show | 7 | 354 | 0.0198 | 3265 | c.208 others(3280): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
PLEK2_chr14_67381984_67417165 | 67396241 | A | AGGTTCAA others(3258): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0138 | 1 | 354 | 0.0028 | 3265 | c.208 others(3280): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
PLEK2_chr14_67381984_67417165 | 67396241 | A | AGGTTCAA others(3258): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 354 | 0.0028 | 3265 | c.208 others(3280): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
PLEK2_chr14_67381984_67417165 | 67396241 | A | AGGTTCAA others(3258): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 354 | 0.0028 | 3265 | c.208 others(3280): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3259): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0008 | a0008c0006 | a0008c0006t0012 | a0008c0006t0012g0081 | 1 | 318 | 0.0031 | 3266 | c.813 others(3283): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3259): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0011 | a0002c0011t0004 | a0002c0011t0004g0263 | 1 | 318 | 0.0031 | 3266 | c.813 others(3283): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3259): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0257 | 1 | 318 | 0.0031 | 3266 | c.813 others(3283): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3259): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0003 | a0003c0009 | a0003c0009t0051 | a0003c0009t0051g0145 | 1 | 318 | 0.0031 | 3266 | c.813 others(3283): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(3259): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0190 | 1 | 236 | 0.0042 | 3266 | c.294 others(3283): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | ||||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTCCCTCC others(3259): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 | 1 | 80 | 0.0125 | 3266 | c.125 others(3283): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
TMEM185A_chrX_149591556_149636792 | 149605308 | A | ACTTTCTA others(3259): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0014 | 1 | 259 | 0.0039 | 3266 | c.424 others(3283): Show |
TMEM185A | ENSG00000269556.9 | transcript | ENST00000600449.8 | protein_coding | 3/6 | chrX | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3260): Show |
intron_variant | MODIFIER | HG00738.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0279 | 1 | 318 | 0.0031 | 3267 | c.813 others(3284): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3260): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0020 | a0020c0045 | a0020c0045t0002 | a0020c0045t0002g0299 | 1 | 318 | 0.0031 | 3267 | c.813 others(3284): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3260): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0008 | a0008c0006 | a0008c0006t0006 | a0008c0006t0006g0057 | 1 | 318 | 0.0031 | 3267 | c.813 others(3284): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3260): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0011 | a0002c0011t0007 | a0002c0011t0007g0247 | 1 | 318 | 0.0031 | 3267 | c.813 others(3284): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586564 | A | AGAGGGGA others(3260): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0004 | a0004c0005 | a0004c0005t0005 | a0004c0005t0005g0158 | 1 | 308 | 0.0033 | 3267 | c.157 others(3284): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
MICAL3_chr22_17782649_18029561 | 17876926 | T | TAGGGAGG others(3260): Show |
intron_variant | MODIFIER | NA18948.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0072 | 1 | 274 | 0.0037 | 3267 | c.224 others(3286): Show |
MICAL3 | ENSG00000243156.9 | transcript | ENST00000441493.7 | protein_coding | 16/31 | chr22 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(3260): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0255 | 1 | 376 | 0.0027 | 3267 | c.101 others(3286): 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(3260): Show |
intron_variant | MODIFIER | NA18961.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0369 | 1 | 376 | 0.0027 | 3267 | c.101 others(3284): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SLC6A3_chr5_1387794_1450440 | 1414399 | G | GGGGGGCC others(3260): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0003 | a0001c0003t0012 | a0001c0003t0012g0134 | 1 | 373 | 0.0027 | 3267 | c.115 others(3284): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3261): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0014 | a0014c0053 | a0014c0053t0002 | a0014c0053t0002g0146 | 1 | 318 | 0.0031 | 3268 | c.813 others(3285): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3261): Show |
intron_variant | MODIFIER | NA18998.hp1 | a0009 | a0009c0027 | a0009c0027t0006 | a0009c0027t0006g0224 | 1 | 318 | 0.0031 | 3268 | c.813 others(3285): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3261): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0003 | a0003c0009 | a0003c0009t0003 | a0003c0009t0003g0138 | 1 | 318 | 0.0031 | 3268 | c.813 others(3285): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3261): Show |
intron_variant | MODIFIER | NA19001.hp1 | a0003 | a0003c0002 | a0003c0002t0003 | a0003c0002t0003g0127 | 1 | 318 | 0.0031 | 3268 | c.813 others(3285): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3262): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0003 | a0003c0076 | a0003c0076t0002 | a0003c0076t0002g0130 | 1 | 318 | 0.0031 | 3269 | c.813 others(3286): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3262): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0010 | a0010c0007 | a0010c0007t0003 | a0010c0007t0003g0149 | 1 | 318 | 0.0031 | 3269 | c.813 others(3286): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3262): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0122 | 1 | 318 | 0.0031 | 3269 | c.813 others(3286): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
ARHGEF15_chr17_8305241_8327511 | 8305653 | T | TAAGAAAT others(3262): Show |
upstream_gene_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0138 | 1 | 428 | 0.0023 | 3269 | c.-47 others(3280): Show |
ARHGEF15 | ENSG00000198844.12 | transcript | ENST00000361926.8 | protein_coding | 4587 | chr17 | TogoVar | ||||||
CCDC171_chr9_15548043_15979037 | 15568002 | T | TGGAATTG others(3262): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0005 | a0005c0005 | a0005c0005t0009 | a0005c0005t0009g0242 | 1 | 266 | 0.0038 | 3269 | c.42- others(3284): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 2/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
EML6_chr2_54718662_54977025 | 54945186 | C | CCTCTCTC others(3262): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0134 | 1 | 264 | 0.0038 | 3269 | c.400 others(3288): Show |
EML6 | ENSG00000214595.13 | transcript | ENST00000356458.8 | protein_coding | 28/41 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |