| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CFAP46_chr10_132803392_132947570 | 132852325 | T | TTAAGAAT others(656): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02523.hp2 |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0002a0005c0006t0001 | a0001c0001t0002g0080a0005c0006t0001g0201 | 2 | 246 | 0.0081 | 663 | c.557 others(682): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 39/57 | chr10 | TogoVar | ||||||
| CFAP61_chr20_20047532_20365698 | 20320483 | A | ATATTATA others(656): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0090a0001c0001t0003g0093 | 2 | 236 | 0.0085 | 663 | c.342 others(684): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| CFAP61_chr20_20047532_20365698 | 20320485 | A | ATTATATA others(656): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0136 | 1 | 236 | 0.0042 | 663 | c.342 others(684): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | chr20 | TogoVar | ||||||
| CKAP2_chr13_52450478_52481627 | 52460703 | C | CGGCCTCC others(656): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01243.hp2 HG03486.hp1 others(1): Show |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0001a0003c0005t0001 | a0002c0002t0001g0217a0003c0005t0001g0151a0003c0005t0001g0163others(1): Show | 4 | 406 | 0.0099 | 663 | c.156 others(678): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| CKAP2_chr13_52450478_52481627 | 52460703 | C | CGGCCTCC others(656): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037a0001c0001t0002g0172 | 3 | 406 | 0.0074 | 663 | c.156 others(678): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| CKAP2_chr13_52450478_52481627 | 52460703 | C | CGGCCTCC others(656): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01261.hp1 HG02071.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0105others(5): Show | 10 | 406 | 0.0246 | 663 | c.156 others(678): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| CKAP2_chr13_52450478_52481627 | 52460703 | C | CGGCCTCC others(656): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(53): Show |
a0001a0006a0011 | a0001c0001a0001c0004a0006c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0025a0001c0001t0001g0028a0001c0001t0001g0030others(40): Show | 56 | 406 | 0.1379 | 663 | c.156 others(678): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| CKAP2_chr13_52450478_52481627 | 52460703 | C | CGGCCTCC others(656): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 406 | 0.0025 | 663 | c.156 others(678): Show |
CKAP2 | ENSG00000136108.15 | transcript | ENST00000258607.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| CLPTM1L_chr5_1312752_1350099 | 1333222 | C | CAGATGAA others(656): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 | 1 | 370 | 0.0027 | 663 | c.891 others(680): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
| COL4A1_chr13_110143963_110312157 | 110255645 | C | CAGGCAGG others(656): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0154 | 1 | 344 | 0.0029 | 663 | c.85- others(680): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
| DECR2_chr16_396885_417482 | 397709 | T | TGGGGGGG others(656): Show |
upstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 367 | 0.0027 | 663 | c.-42 others(674): Show |
DECR2 | ENSG00000242612.7 | transcript | ENST00000219481.10 | protein_coding | 4175 | chr16 | TogoVar | ||||||
| DNAH17_chr17_78418697_78582396 | 78438445 | G | GGAGGAGG others(656): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0149 | 1 | 252 | 0.0040 | 663 | c.118 others(682): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | ||||||
| DPP6_chr7_154047398_154899285 | 154063328 | C | CCCCCCCG others(656): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0009 | a0002c0009t0004 | a0002c0009t0004g0004 | 1 | 38 | 0.0263 | 663 | c.243 others(682): Show |
DPP6 | ENSG00000130226.18 | transcript | ENST00000377770.8 | protein_coding | 1/25 | chr7 | TogoVar | ||||||
| EBF2_chr8_25836725_26050413 | 26005387 | A | ATATAATA others(656): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01175.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0003 | a0001c0001t0006g0203a0001c0002t0003g0169 | 2 | 220 | 0.0091 | 663 | c.551 others(682): Show |
EBF2 | ENSG00000221818.9 | transcript | ENST00000520164.6 | protein_coding | 6/15 | chr8 | TogoVar | ||||||
| EIPR1_chr2_3183970_3382818 | 3315642 | C | CCCCATCC others(656): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00639.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0018a0001c0001t0001g0024a0001c0001t0001g0060others(14): Show | 17 | 250 | 0.0680 | 663 | c.259 others(682): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
| EIPR1_chr2_3183970_3382818 | 3315642 | C | CCCCATCC others(656): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 250 | 0.0040 | 663 | c.259 others(682): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | ||||||
| EXD3_chr9_137301896_137428162 | 137328271 | A | ACCTACAT others(656): Show |
intron_variant | MODIFIER | NA18747.hp2 | a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0055 | 1 | 82 | 0.0122 | 663 | c.199 others(682): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 17/21 | chr9 | TogoVar | ||||||
| FAM120B_chr6_170301758_170412067 | 170399019 | A | AAAGGTAG others(656): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247 | 1 | 289 | 0.0035 | 663 | c.269 others(682): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| FAM120B_chr6_170301758_170412067 | 170399854 | A | ACTCTTAG others(656): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0187 | 1 | 289 | 0.0035 | 663 | c.269 others(682): Show |
FAM120B | ENSG00000112584.14 | transcript | ENST00000476287.4 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| FAM174C_chr19_1270530_1284228 | 1282324 | G | GGGGGAAG others(656): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 254 | 0.0039 | 663 | c.*35 others(674): Show |
FAM174C | ENSG00000228300.14 | transcript | ENST00000409293.6 | protein_coding | 3097 | chr19 | TogoVar | ||||||
| HELZ2_chr20_63553086_63579239 | 63571551 | C | CAGTGGGC others(656): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0088 | 1 | 390 | 0.0026 | 663 | c.278 others(678): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| HELZ2_chr20_63553086_63579239 | 63571726 | A | AAGCTCCT others(656): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG03491.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004a0003c0003t0001g0169 | 4 | 390 | 0.0103 | 663 | c.278 others(678): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| HELZ2_chr20_63553086_63579239 | 63571874 | G | GCTCCAAG others(656): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0029 | a0029c0039 | a0029c0039t0090 | a0029c0039t0090g0082 | 1 | 390 | 0.0026 | 663 | c.278 others(678): Show |
HELZ2 | ENSG00000130589.16 | transcript | ENST00000467148.2 | protein_coding | 2/19 | chr20 | TogoVar | ||||||
| HPCAL1_chr2_10297904_10432604 | 10399226 | C | CCACCGCC others(656): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 314 | 0.0032 | 663 | c.-25 others(680): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| ICA1_chr7_8108184_8267167 | 8152669 | C | CATTATCT others(656): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0110 | 1 | 274 | 0.0037 | 663 | c.804 others(680): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33322909 | T | TGGAATAC others(656): Show |
upstream_gene_variant | MODIFIER | NA18955.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0237 | 1 | 323 | 0.0031 | 663 | c.-21 others(674): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | ||||||
| IFNAR1_chr21_33319970_33364864 | 33323156 | A | ACGTATGG others(656): Show |
upstream_gene_variant | MODIFIER | HG03669.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0230 | 1 | 323 | 0.0031 | 663 | c.-19 others(674): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1813 | chr21 | TogoVar | ||||||
| IQSEC3_chr12_61767_183455 | 163376 | C | CCACAGAA others(656): Show |
intron_variant | MODIFIER | HG03831.hp1 HG04115.hp1 NA18942.hp1 others(3): Show |
a0001a0002a0007 | a0001c0004a0001c0007a0001c0059others(2): Show | a0001c0004t0001a0001c0007t0001a0001c0059t0001others(2): Show | a0001c0004t0001g0235a0001c0007t0001g0107a0001c0007t0001g0117others(3): Show | 6 | 282 | 0.0213 | 663 | c.258 others(680): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| KHSRP_chr19_6408102_6429811 | 6429376 | G | GGAAGGGA others(656): Show |
upstream_gene_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0177 | 1 | 386 | 0.0026 | 663 | c.-46 others(674): Show |
KHSRP | ENSG00000088247.19 | transcript | ENST00000600480.2 | protein_coding | 4566 | chr19 | TogoVar | ||||||
| KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(656): Show |
downstream_gene_variant | MODIFIER | HG03130.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0161a0001c0001t0003g0163 | 2 | 286 | 0.0070 | 663 | c.*52 others(674): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar | ||||||
| KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(656): Show |
downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0147 | 1 | 286 | 0.0035 | 663 | c.*52 others(674): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar | ||||||
| KLHL15_chrX_23978720_24032186 | 23982660 | C | CAAAAAAA others(656): Show |
downstream_gene_variant | MODIFIER | HG01884.hp1 HG02258.hp1 HG02572.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0058a0001c0001t0004g0061a0001c0001t0004g0062others(3): Show | 6 | 286 | 0.0210 | 663 | c.*52 others(674): Show |
KLHL15 | ENSG00000174010.10 | transcript | ENST00000328046.8 | protein_coding | 1059 | chrX | TogoVar | ||||||
| KRT82_chr12_52388931_52411335 | 52409039 | T | TCCTCTCC others(656): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 370 | 0.0027 | 663 | c.-27 others(674): Show |
KRT82 | ENSG00000161850.3 | transcript | ENST00000257974.3 | protein_coding | 2705 | chr12 | TogoVar | ||||||
| LGR6_chr1_202188799_202324761 | 202204775 | C | CACACACA others(656): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 262 | 0.0038 | 663 | c.212 others(682): Show |
LGR6 | ENSG00000133067.18 | transcript | ENST00000367278.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| LHPP_chr10_124456823_124619141 | 124507025 | G | GATTTCAG others(656): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 260 | 0.0039 | 663 | c.624 others(680): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(656): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 448 | 0.0022 | 663 | c.*56 others(674): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | ||||||
| LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(656): Show |
downstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 448 | 0.0022 | 663 | c.*56 others(674): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | ||||||
| LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(656): Show |
downstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0262 | 1 | 448 | 0.0022 | 663 | c.*56 others(674): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | ||||||
| LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(656): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236a0001c0001t0001g0409 | 2 | 448 | 0.0045 | 663 | c.*56 others(674): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | ||||||
| LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(656): Show |
downstream_gene_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG03041.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0016 | a0001c0001t0001g0212a0001c0001t0001g0233a0001c0001t0001g0235others(4): Show | 7 | 448 | 0.0156 | 663 | c.*56 others(674): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | ||||||
| LRRC38_chr1_13469973_13519003 | 13470159 | C | CTGCCTCA others(656): Show |
downstream_gene_variant | MODIFIER | NA19084.hp2 | a0002 | a0002c0002 | a0002c0002t0011 | a0002c0002t0011g0058 | 1 | 448 | 0.0022 | 663 | c.*56 others(674): Show |
LRRC38 | ENSG00000162494.6 | transcript | ENST00000376085.4 | protein_coding | 4813 | chr1 | TogoVar | ||||||
| MIER2_chr19_300573_349796 | 303029 | T | TCTCATCA others(656): Show |
downstream_gene_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 384 | 0.0026 | 663 | c.*36 others(674): Show |
MIER2 | ENSG00000105556.12 | transcript | ENST00000264819.7 | protein_coding | 2543 | chr19 | TogoVar | ||||||
| MLPH_chr2_237482251_237560322 | 237543282 | T | TGGGGACA others(656): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0083 | 1 | 286 | 0.0035 | 663 | c.153 others(680): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| MRI1_chr19_13759522_13779282 | 13769697 | A | AGATCACA others(656): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0253 | 1 | 460 | 0.0022 | 663 | c.949 others(680): Show |
MRI1 | ENSG00000037757.14 | transcript | ENST00000040663.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| MROH1_chr8_144143016_144266926 | 144218788 | T | TCTGCTCT others(656): Show |
intron_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0076 | 1 | 140 | 0.0071 | 663 | c.114 others(682): Show |
MROH1 | ENSG00000179832.18 | transcript | ENST00000326134.10 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| NXN_chr17_794310_984776 | 841393 | C | CGGCGAGC others(656): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0042 | 1 | 242 | 0.0041 | 663 | c.361 others(682): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
| PJA2_chr5_109329722_109414974 | 109353989 | A | ATCTATGA others(656): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0003 | a0003c0003 | a0003c0003t0020 | a0003c0003t0020g0064 | 1 | 346 | 0.0029 | 663 | c.176 others(682): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | ||||||
| PLCB1_chr20_8127266_8889900 | 8662119 | T | TATAATTA others(656): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01346.hp1 HG03834.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0004a0001c0007t0010 | a0001c0002t0004g0055a0001c0002t0004g0059a0001c0007t0010g0006 | 3 | 106 | 0.0283 | 663 | c.862 others(680): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(656): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0004 | a0004c0007 | a0004c0007t0022 | a0004c0007t0022g0067 | 1 | 295 | 0.0034 | 663 | c.715 others(680): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| RASA3_chr13_113972783_114137623 | 114044329 | G | GCCCCCCC others(656): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0056 | 1 | 67 | 0.0149 | 663 | c.278 others(680): Show |
RASA3 | ENSG00000185989.11 | transcript | ENST00000334062.8 | protein_coding | 3/23 | chr13 | TogoVar |