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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PCBP3_chr21_45638725_45947450 | 45909848 | A | ACCCCCCC others(191): Show |
intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 158 | 0.0063 | 198 | c.471 others(213): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45923781 | T | TGAGTGGA others(191): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0216 | 1 | 203 | 0.0049 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45923788 | A | ATAGAAAC others(191): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0103 | 1 | 281 | 0.0036 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45923820 | C | CGAGGAGA others(191): Show |
intron_variant | MODIFIER | HG02132.hp2 HG02735.hp2 NA18998.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0047 a0001c0001t0003g0066 a0001c0001t0003g0083 others(2): Show |
5 | 259 | 0.0193 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45923886 | C | CGAGGAGA others(191): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0098 | 1 | 161 | 0.0062 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45923920 | G | GTAGAAAC others(191): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0025 | 1 | 269 | 0.0037 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45923962 | C | CGAACACC others(191): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0092 | 1 | 157 | 0.0064 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45923981 | A | AGTGGATA others(191): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 1 | 236 | 0.0042 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924028 | C | CGAACACC others(191): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0109 | 1 | 250 | 0.0040 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924084 | C | CGAGGAGA others(191): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0118 | 1 | 273 | 0.0037 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924118 | G | GTAGAAAC others(191): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001 | 2 | 217 | 0.0092 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924160 | T | TGAACACC others(191): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0033 | 1 | 229 | 0.0044 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924179 | C | CATGGATA others(191): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 231 | 0.0043 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | chr21 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45924216 | C | CGAGGAGA others(191): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0112 | 1 | 258 | 0.0039 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924282 | T | TGAGGAGA others(191): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02080.hp1 NA18940.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0016 a0001c0001t0003g0023 a0001c0001t0003g0053 others(2): Show |
5 | 213 | 0.0235 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924316 | G | GTAGAAAC others(191): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0216 | 1 | 188 | 0.0053 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924346 | C | CACGAGGA others(191): Show |
intron_variant | MODIFIER | HG01099.hp2 HG03942.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0052 a0001c0001t0008g0114 |
2 | 290 | 0.0069 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | chr21 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45924348 | T | TGAGGAGA others(191): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0210 | 1 | 229 | 0.0044 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924377 | A | AGTGGGTA others(191): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0033 | 1 | 203 | 0.0049 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924622 | C | CGAACACC others(191): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 | 1 | 245 | 0.0041 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924646 | G | GTAGAAAC others(191): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0257 | 1 | 172 | 0.0058 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924707 | A | AGTGGGTA others(191): Show |
intron_variant | MODIFIER | HG02630.hp2 HG03453.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0211 a0001c0001t0004g0212 a0001c0001t0004g0214 |
3 | 199 | 0.0151 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924886 | T | TGAACACC others(191): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038 | 1 | 204 | 0.0049 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45924976 | G | GTAGAAAC others(191): Show |
intron_variant | MODIFIER | HG01361.hp1 HG01516.hp2 HG01981.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0036 a0001c0001t0002g0040 a0001c0001t0002g0041 others(8): Show |
11 | 213 | 0.0516 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCBP3_chr21_45638725_45947450 | 45925042 | G | ATAGAAAC others(191): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01257.hp1 HG01258.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0068 a0001c0001t0002g0069 a0001c0001t0002g0070 others(10): Show |
13 | 248 | 0.0524 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | chr21 | TogoVar | |||||||
PCBP3_chr21_45638725_45947450 | 45925103 | C | CGTGGATA others(191): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0060 | 1 | 125 | 0.0080 | 198 | c.718 others(215): Show |
PCBP3 | ENSG00000183570.17 | transcript | ENST00000681687.1 | protein_coding | 13/17 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PCDHGA1_chr5_141325514_141517975 | 141407491 | A | ATTTCTGT others(191): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0243 | 1 | 244 | 0.0041 | 198 | c.242 others(219): Show |
PCDHGA1 | ENSG00000204956.6 | transcript | ENST00000517417.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA2_chr5_141333760_141517975 | 141407491 | A | ATTTCTGT others(191): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 248 | 0.0040 | 198 | c.242 others(219): Show |
PCDHGA2 | ENSG00000081853.15 | transcript | ENST00000394576.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA3_chr5_141338829_141517975 | 141407491 | A | ATTTCTGT others(191): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0041 | 1 | 246 | 0.0041 | 198 | c.242 others(219): Show |
PCDHGA3 | ENSG00000254245.3 | transcript | ENST00000253812.8 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA4_chr5_141350021_141517975 | 141407491 | A | ATTTCTGT others(191): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0241 | 1 | 250 | 0.0040 | 198 | c.251 others(219): Show |
PCDHGA4 | ENSG00000262576.3 | transcript | ENST00000571252.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA5_chr5_141359162_141517975 | 141407491 | A | ATTTCTGT others(191): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0120 | 1 | 268 | 0.0037 | 198 | c.242 others(219): Show |
PCDHGA5 | ENSG00000253485.3 | transcript | ENST00000518069.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA6_chr5_141368891_141517975 | 141407491 | A | ATTTCTGT others(191): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0271 | 1 | 268 | 0.0037 | 198 | c.242 others(219): Show |
PCDHGA6 | ENSG00000253731.3 | transcript | ENST00000517434.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA7_chr5_141377742_141517975 | 141407491 | A | ATTTCTGT others(191): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 268 | 0.0037 | 198 | c.242 others(219): Show |
PCDHGA7 | ENSG00000253537.3 | transcript | ENST00000518325.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA8_chr5_141387633_141517975 | 141407491 | A | ATTTCTGT others(191): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 278 | 0.0036 | 198 | c.242 others(219): Show |
PCDHGA8 | ENSG00000253767.3 | transcript | ENST00000398604.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGA9_chr5_141397778_141517975 | 141407491 | A | ATTTCTGT others(191): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0273 | 1 | 278 | 0.0036 | 198 | c.242 others(217): Show |
PCDHGA9 | ENSG00000261934.3 | transcript | ENST00000573521.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB1_chr5_141345099_141517975 | 141407491 | A | ATTTCTGT others(191): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0024 | 1 | 255 | 0.0039 | 198 | c.240 others(219): Show |
PCDHGB1 | ENSG00000254221.3 | transcript | ENST00000523390.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB2_chr5_141354994_141517975 | 141407491 | A | ATTTCTGT others(191): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0270 | 1 | 264 | 0.0038 | 198 | c.242 others(219): Show |
PCDHGB2 | ENSG00000253910.3 | transcript | ENST00000522605.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB3_chr5_141365242_141517975 | 141407491 | A | ATTTCTGT others(191): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0277 | 1 | 272 | 0.0037 | 198 | c.241 others(219): Show |
PCDHGB3 | ENSG00000262209.3 | transcript | ENST00000576222.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB4_chr5_141382698_141517975 | 141407491 | A | ATTTCTGT others(191): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 271 | 0.0037 | 198 | c.239 others(219): Show |
PCDHGB4 | ENSG00000253953.3 | transcript | ENST00000519479.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB5_chr5_141392947_141517975 | 141407491 | A | ATTTCTGT others(191): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 276 | 0.0036 | 198 | c.239 others(217): Show |
PCDHGB5 | ENSG00000276547.2 | transcript | ENST00000617380.2 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PCDHGB6_chr5_141403021_141517975 | 141407491 | A | ATTTCTGT others(191): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0173 | 1 | 278 | 0.0036 | 198 | c.-71 others(207): Show |
PCDHGB6 | ENSG00000253305.3 | transcript | ENST00000520790.2 | protein_coding | 529 | chr5 | TogoVar | |||||||
PCGF3_chr4_700832_775089 | 731898 | C | CCCCTCCC others(191): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00735.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0005 | a0001c0001t0002g0328 a0001c0001t0002g0331 a0001c0001t0002g0332 others(4): Show |
7 | 253 | 0.0277 | 198 | c.-10 others(213): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
PDIA2_chr16_278164_292215 | 285902 | T | TCCCAACC others(191): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0008 | 1 | 406 | 0.0025 | 198 | c.111 others(215): Show |
PDIA2 | ENSG00000185615.16 | transcript | ENST00000219406.11 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PGAM5_chr12_132705842_132727734 | 132717303 | C | CGGAGGAG others(191): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0059 | 1 | 390 | 0.0026 | 198 | c.371 others(211): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
PGAM5_chr12_132705842_132727734 | 132727548 | G | GGAGGAGA others(191): Show |
downstream_gene_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0046 | 1 | 392 | 0.0026 | 198 | c.*67 others(209): Show |
PGAM5 | ENSG00000247077.8 | transcript | ENST00000498926.7 | protein_coding | 4815 | chr12 | TogoVar | |||||||
PHACTR3_chr20_59599540_59852711 | 59674362 | T | TCCCCTTC others(191): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02148.hp2 HG02622.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0087 a0001c0001t0001g0123 a0001c0001t0001g0124 others(4): Show |
7 | 228 | 0.0307 | 198 | c.119 others(217): Show |
PHACTR3 | ENSG00000087495.17 | transcript | ENST00000371015.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
PHF3_chr6_63630802_63731011 | 63688231 | C | CCCCCCCC others(191): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0214 | 1 | 25 | 0.0400 | 198 | c.218 others(217): Show |
PHF3 | ENSG00000118482.12 | transcript | ENST00000262043.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PHF3_chr6_63630802_63731011 | 63688231 | C | CCCCCCTC others(191): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0271 | 1 | 25 | 0.0400 | 198 | c.218 others(217): Show |
PHF3 | ENSG00000118482.12 | transcript | ENST00000262043.8 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PIK3R1_chr5_68210756_68306821 | 68262807 | G | GTAGATGC others(191): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0137 | 1 | 127 | 0.0079 | 198 | c.335 others(217): Show |
PIK3R1 | ENSG00000145675.16 | transcript | ENST00000521381.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PKD2L1_chr10_100283149_100335228 | 100314983 | G | GGGAAGGG others(191): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 215 | 0.0047 | 198 | c.349 others(217): Show |
PKD2L1 | ENSG00000107593.17 | transcript | ENST00000318222.4 | protein_coding | 2/15 | chr10 | TogoVar |