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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(3242): Show |
conservative_inframe_insertion | MODERATE | HG02970.hp1 HG06807.hp1 NA19240.hp1 |
a0027a0134 | a0027c0031a0134c0201 | a0027c0031t0001a0134c0201t0001 | a0027c0031t0001g0190a0027c0031t0001g0192a0134c0201t0001g0191 | 3 | 342 | 0.0088 | 3249 | c.138 others(3260): Show |
p.Thr others(3264): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(3242): Show |
conservative_inframe_insertion | MODERATE | HG02015.hp1 | a0149 | a0149c0185 | a0149c0185t0001 | a0149c0185t0001g0175 | 1 | 342 | 0.0029 | 3249 | c.138 others(3260): Show |
p.Thr others(3264): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(3242): Show |
conservative_inframe_insertion | MODERATE | HG02896.hp1 HG02897.hp1 |
a0024 | a0024c0021 | a0024c0021t0001 | a0024c0021t0001g0022 | 2 | 342 | 0.0059 | 3249 | c.138 others(3260): Show |
p.Thr others(3264): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(3242): Show |
conservative_inframe_insertion | MODERATE | HG01257.hp2 HG01258.hp2 NA18948.hp2 others(1): Show |
a0022a0087a0089 | a0022c0025a0087c0138a0089c0224 | a0022c0025t0001a0087c0138t0001a0089c0224t0001 | a0022c0025t0001g0223a0022c0025t0001g0224a0087c0138t0001g0282others(1): Show | 4 | 342 | 0.0117 | 3249 | c.138 others(3260): Show |
p.Thr others(3264): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(3242): Show |
conservative_inframe_insertion | MODERATE | HG00735.hp1 HG02683.hp2 |
a0096a0118 | a0096c0220a0118c0143 | a0096c0220t0001a0118c0143t0001 | a0096c0220t0001g0230a0118c0143t0001g0206 | 2 | 342 | 0.0059 | 3249 | c.138 others(3260): Show |
p.Thr others(3264): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
MUC12_chr7_100964565_101023936 | 101004371 | C | CGACCTAC others(3242): Show |
conservative_inframe_insertion | MODERATE | HG01257.hp1 | a0093 | a0093c0142 | a0093c0142t0001 | a0093c0142t0001g0094 | 1 | 342 | 0.0029 | 3249 | c.138 others(3260): Show |
p.Thr others(3264): Show |
MUC12 | ENSG00000205277.10 | transcript | ENST00000536621.6 | protein_coding | 2/12 | 13868/16366 | 13810/16008 | 4604/5335 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |
SERINC2_chr1_31408213_31439678 | 31432075 | C | CAGGGTGG others(3242): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0344 | 1 | 376 | 0.0027 | 3249 | c.101 others(3266): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3243): Show |
intron_variant | MODIFIER | HG02735.hp1 NA18943.hp1 NA18984.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0042a0001c0001t0001g0090a0001c0001t0001g0103others(1): Show | 4 | 175 | 0.0229 | 3250 | c.164 others(3269): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
EVC2_chr4_5557439_5713559 | 5706339 | T | TAGATAGA others(3243): Show |
intron_variant | MODIFIER | NA19088.hp1 | a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0047 | 1 | 292 | 0.0034 | 3250 | c.228 others(3267): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3649063 | A | ATGCCCAC others(3243): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0251 | 1 | 332 | 0.0030 | 3250 | c.112 others(3267): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3649163 | A | ATGCCCAC others(3243): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0309 | 1 | 332 | 0.0030 | 3250 | c.112 others(3267): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | ||||||
PTGR1_chr9_111557567_111604647 | 111578316 | T | TTATTTCT others(3243): Show |
intron_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0263 | 1 | 408 | 0.0025 | 3250 | c.651 others(3265): Show |
PTGR1 | ENSG00000106853.20 | transcript | ENST00000407693.7 | protein_coding | 7/9 | chr9 | TogoVar | ||||||
GTPBP6_chrX_299759_323796 | 323693 | T | TGTGTGTG others(3244): Show |
upstream_gene_variant | MODIFIER | HG01993.hp2 | a0003 | a0003c0039 | a0003c0039t0002 | a0003c0039t0002g0094 | 1 | 155 | 0.0065 | 3251 | c.-49 others(3262): Show |
GTPBP6 | ENSG00000178605.14 | transcript | ENST00000326153.10 | protein_coding | 4898 | chrX | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(3244): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0089 | a0089c0074 | a0089c0074t0008 | a0089c0074t0008g0240 | 1 | 292 | 0.0034 | 3251 | c.218 others(3266): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3649603 | A | ACCCGGCA others(3244): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0252 | 1 | 332 | 0.0030 | 3251 | c.112 others(3268): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3245): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0003 | a0003c0009 | a0003c0009t0003 | a0003c0009t0003g0178 | 1 | 318 | 0.0031 | 3252 | c.813 others(3269): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
CCDC77_chr12_396644_447642 | 422064 | C | CCTCCATG others(3245): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0377 | 1 | 432 | 0.0023 | 3252 | c.413 others(3269): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
LMF1_chr16_848634_975984 | 953333 | A | AACCAGCC others(3245): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0095 | 1 | 294 | 0.0034 | 3252 | c.503 others(3269): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
ZNF429_chr19_21500602_21545668 | 21535003 | T | TTTTTAGT others(3246): Show |
intron_variant | MODIFIER | HG03041.hp2 HG03453.hp1 |
a0004 | a0004c0005 | a0004c0005t0019 | a0004c0005t0019g0202a0004c0005t0019g0203 | 2 | 222 | 0.0090 | 3253 | c.227 others(3270): Show |
ZNF429 | ENSG00000197013.11 | transcript | ENST00000358491.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ZNF429_chr19_21500602_21545668 | 21535003 | T | TTTTTAGT others(3246): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03579.hp1 |
a0001a0005 | a0001c0010a0005c0012 | a0001c0010t0035a0005c0012t0034 | a0001c0010t0035g0204a0005c0012t0034g0205 | 2 | 222 | 0.0090 | 3253 | c.227 others(3270): Show |
ZNF429 | ENSG00000197013.11 | transcript | ENST00000358491.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
PLEK2_chr14_67381984_67417165 | 67396241 | A | AGGTTCAA others(3247): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0211 | 1 | 354 | 0.0028 | 3254 | c.208 others(3269): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
PLEK2_chr14_67381984_67417165 | 67396241 | A | AGGTTCAA others(3247): Show |
intron_variant | MODIFIER | HG02970.hp2 HG03486.hp1 NA20300.hp1 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0232a0001c0004t0001g0235a0001c0004t0001g0236 | 3 | 354 | 0.0085 | 3254 | c.208 others(3269): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
PLEK2_chr14_67381984_67417165 | 67396241 | A | AGGTTCAA others(3247): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02109.hp1 HG02257.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0087others(2): Show | 9 | 354 | 0.0254 | 3254 | c.208 others(3269): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
TUBGCP5_chr15_22994177_23044569 | 23042997 | G | GGGACATC others(3247): Show |
upstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 351 | 0.0029 | 3254 | c.-34 others(3265): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 3429 | chr15 | TogoVar | ||||||
ZDHHC20_chr13_21367571_21464303 | 21377643 | T | TGATCTGA others(3247): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0275 | 1 | 302 | 0.0033 | 3254 | c.*41 others(3269): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(3248): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 316 | 0.0032 | 3255 | c.44- others(3268): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3248): Show |
intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0164 | 1 | 268 | 0.0037 | 3255 | c.139 others(3276): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3248): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0126 | 1 | 268 | 0.0037 | 3255 | c.139 others(3276): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3248): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0141 | 1 | 268 | 0.0037 | 3255 | c.139 others(3276): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(3248): Show |
intron_variant | MODIFIER | NA19091.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0047 | 1 | 292 | 0.0034 | 3255 | c.218 others(3270): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | ||||||
PLEK2_chr14_67381984_67417165 | 67396241 | A | AGGTTCAA others(3248): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 354 | 0.0028 | 3255 | c.208 others(3270): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
PLEK2_chr14_67381984_67417165 | 67396241 | A | AGGTTCAA others(3248): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0229 | 1 | 354 | 0.0028 | 3255 | c.208 others(3270): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
ARHGEF15_chr17_8305241_8327511 | 8305653 | T | TAAGAAAT others(3249): Show |
upstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0137 | 1 | 428 | 0.0023 | 3256 | c.-47 others(3267): Show |
ARHGEF15 | ENSG00000198844.12 | transcript | ENST00000361926.8 | protein_coding | 4587 | chr17 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(3249): Show |
intron_variant | MODIFIER | HG01169.hp2 HG03041.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0096a0001c0004t0001g0099 | 2 | 170 | 0.0118 | 3256 | c.642 others(3273): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
LMTK2_chr7_98101862_98214638 | 98141253 | C | CAAAATTA others(3249): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0247 | 1 | 390 | 0.0026 | 3256 | c.232 others(3271): Show |
LMTK2 | ENSG00000164715.6 | transcript | ENST00000297293.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NOC4L_chr12_132139457_132157468 | 132150453 | C | TACCACAC others(3249): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 294 | 0.0034 | 3256 | c.902 others(3271): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 9/14 | chr12 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3977040 | C | CCACGCAG others(3249): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0005 | a0005c0080 | a0005c0080t0014 | a0005c0080t0014g0078 | 1 | 116 | 0.0086 | 3256 | c.199 others(3275): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414424 | A | AGAAGGCA others(3249): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0359 | 1 | 373 | 0.0027 | 3256 | c.115 others(3273): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294480 | G | GCAAGTTA others(3249): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0338 | 1 | 404 | 0.0025 | 3256 | c.340 others(3273): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ZDHHC20_chr13_21367571_21464303 | 21377568 | A | ACTCTGCC others(3249): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0240 | 1 | 302 | 0.0033 | 3256 | c.*41 others(3271): Show |
ZDHHC20 | ENSG00000180776.17 | transcript | ENST00000400590.8 | protein_coding | 12/12 | chr13 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(3250): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0120 | 1 | 170 | 0.0059 | 3257 | c.642 others(3274): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3250): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0003 | a0003c0007 | a0003c0007t0004 | a0003c0007t0004g0133 | 1 | 268 | 0.0037 | 3257 | c.139 others(3278): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3250): Show |
intron_variant | MODIFIER | NA18989.hp1 NA19080.hp2 |
a0001a0002 | a0001c0013a0002c0003 | a0001c0013t0002a0002c0003t0002 | a0001c0013t0002g0041a0002c0003t0002g0265 | 2 | 268 | 0.0075 | 3257 | c.139 others(3278): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
HHAT_chr1_210323902_210681290 | 210653965 | G | GGAATAGT others(3250): Show |
intron_variant | MODIFIER | HG02040.hp2 NA18989.hp2 NA19091.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0004a0002c0003t0004 | a0001c0001t0004g0092a0001c0001t0004g0178a0002c0003t0004g0119 | 3 | 268 | 0.0112 | 3257 | c.139 others(3278): Show |
HHAT | ENSG00000054392.13 | transcript | ENST00000261458.8 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
MERTK_chr2_111893607_112034561 | 111913297 | T | TTCTTGTA others(3250): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0282 | 1 | 288 | 0.0035 | 3257 | c.61+ others(3274): Show |
MERTK | ENSG00000153208.19 | transcript | ENST00000295408.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
PLEK2_chr14_67381984_67417165 | 67396241 | A | AGGTTCAA others(3250): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075a0001c0001t0001g0076 | 2 | 354 | 0.0057 | 3257 | c.208 others(3272): Show |
PLEK2 | ENSG00000100558.9 | transcript | ENST00000216446.9 | protein_coding | 2/8 | chr14 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3251): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0002 | a0002c0011 | a0002c0011t0012 | a0002c0011t0012g0134 | 1 | 318 | 0.0031 | 3258 | c.813 others(3275): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3251): Show |
intron_variant | MODIFIER | HG00423.hp2 | a0003 | a0003c0002 | a0003c0002t0014 | a0003c0002t0014g0066 | 1 | 318 | 0.0031 | 3258 | c.813 others(3275): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3251): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0013 | a0013c0013 | a0013c0013t0003 | a0013c0013t0003g0256 | 1 | 318 | 0.0031 | 3258 | c.813 others(3275): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104844306 | T | TAAAAAAG others(3251): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0003 | a0003c0009 | a0003c0009t0046 | a0003c0009t0046g0219 | 1 | 318 | 0.0031 | 3258 | c.813 others(3275): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 8/49 | chr9 | TogoVar |