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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PNPLA7_chr9_137454952_137555402 | 137502719 | C | CGGGGGGG others(1102): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0188 | 1 | 188 | 0.0053 | 1109 | c.147 others(1126): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33820898 | T | TGTGGCTC others(1102): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0054 | a0054c0067 | a0054c0067t0004 | a0054c0067t0004g0069 | 1 | 154 | 0.0065 | 1109 | c.108 others(1126): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 78/103 | chr15 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33820898 | T | TGTGGCTC others(1102): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG01496.hp2 others(11): Show |
a0001a0002a0005others(5): Show | a0001c0003a0001c0014a0001c0121others(10): Show | a0001c0003t0002a0001c0003t0006a0001c0014t0002others(11): Show | a0001c0003t0002g0036 a0001c0003t0006g0029 a0001c0014t0002g0015 others(11): Show |
14 | 154 | 0.0909 | 1109 | c.108 others(1126): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 78/103 | chr15 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33820898 | T | TGTGGCTC others(1102): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0027 | a0027c0125 | a0027c0125t0001 | a0027c0125t0001g0059 | 1 | 154 | 0.0065 | 1109 | c.108 others(1126): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 78/103 | chr15 | TogoVar | |||||||
SEL1L2_chr20_13844247_13995614 | 13934446 | C | CATATATA others(1102): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0240 | 1 | 324 | 0.0031 | 1109 | c.115 others(1126): Show |
SEL1L2 | ENSG00000101251.13 | transcript | ENST00000284951.10 | protein_coding | 2/19 | chr20 | TogoVar | |||||||
SORCS1_chr10_106568663_107169706 | 106854503 | T | TTTGTTTC others(1102): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00597.hp2 |
a0001a0006 | a0001c0002a0001c0004a0006c0026 | a0001c0002t0003a0001c0004t0004a0006c0026t0001 | a0001c0002t0003g0114 a0001c0004t0004g0107 a0006c0026t0001g0064 |
3 | 130 | 0.0231 | 1109 | c.627 others(1128): Show |
SORCS1 | ENSG00000108018.17 | transcript | ENST00000263054.11 | protein_coding | 2/25 | chr10 | TogoVar | |||||||
TRAPPC12_chr2_3374694_3484565 | 3437337 | C | CCACCCCT others(1102): Show |
intron_variant | MODIFIER | HG02622.hp1 HG03195.hp1 NA18906.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0018a0002c0025 | a0001c0001t0001a0001c0001t0002a0002c0018t0002others(1): Show | a0001c0001t0001g0332 a0001c0001t0002g0061 a0001c0001t0002g0190 others(2): Show |
5 | 344 | 0.0145 | 1109 | c.141 others(1128): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1102): Show |
downstream_gene_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 360 | 0.0028 | 1109 | c.*24 others(1120): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948595 | G | GGGGATGT others(1102): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 a0001c0001t0001g0315 a0001c0001t0001g0316 |
3 | 356 | 0.0084 | 1109 | c.114 others(1126): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5932398 | A | ATAGACTA others(1103): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 162 | 0.0062 | 1110 | c.23- others(1125): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1103): Show |
intron_variant | MODIFIER | NA19056.hp1 NA19056.hp2 NA19070.hp2 |
a0001a0002a0009 | a0001c0001a0002c0006a0009c0007 | a0001c0001t0001a0002c0006t0012a0009c0007t0001 | a0001c0001t0001g0105 a0002c0006t0012g0034 a0009c0007t0001g0030 |
3 | 238 | 0.0126 | 1110 | c.787 others(1125): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1103): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0004 | a0004c0008 | a0004c0008t0001 | a0004c0008t0001g0196 | 1 | 242 | 0.0041 | 1110 | c.927 others(1127): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1103): Show |
intron_variant | MODIFIER | NA18962.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0161 | 1 | 242 | 0.0041 | 1110 | c.927 others(1127): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1103): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 242 | 0.0041 | 1110 | c.927 others(1127): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1103): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01515.hp1 HG01952.hp1 others(22): Show |
a0001a0010 | a0001c0001a0010c0013 | a0001c0001t0001a0001c0001t0011a0010c0013t0001 | a0001c0001t0001g0119 a0001c0001t0001g0138 a0001c0001t0001g0156 others(22): Show |
25 | 242 | 0.1033 | 1110 | c.927 others(1127): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1103): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177 | 1 | 242 | 0.0041 | 1110 | c.927 others(1127): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1103): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 242 | 0.0041 | 1110 | c.927 others(1127): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1103): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 | 1 | 242 | 0.0041 | 1110 | c.927 others(1127): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1103): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 242 | 0.0041 | 1110 | c.927 others(1127): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1103): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0007 | a0007c0014 | a0007c0014t0001 | a0007c0014t0001g0210 | 1 | 242 | 0.0041 | 1110 | c.927 others(1127): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1103): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0136 | 1 | 242 | 0.0041 | 1110 | c.927 others(1127): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144531191 | A | AGAGCAGC others(1103): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0096 | 1 | 246 | 0.0041 | 1110 | c.298 others(1127): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 10/11 | chr8 | TogoVar | |||||||
B4GALNT4_chr11_364499_387117 | 375182 | A | AGGAAGGG others(1103): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0003 | a0003c0062 | a0003c0062t0001 | a0003c0062t0001g0124 | 1 | 184 | 0.0054 | 1110 | c.784 others(1125): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90799045 | A | ATCCCAGC others(1103): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0251 | 1 | 280 | 0.0036 | 1110 | c.335 others(1127): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90799045 | A | ATCCCAGC others(1103): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00621.hp1 others(41): Show |
a0001a0002 | a0001c0002a0001c0017a0002c0004 | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(2): Show | a0001c0002t0001g0001 a0001c0002t0001g0010 a0001c0002t0001g0011 others(40): Show |
44 | 280 | 0.1571 | 1110 | c.335 others(1127): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1103): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 a0001c0002t0001g0035 a0001c0002t0001g0036 others(5): Show |
8 | 326 | 0.0245 | 1110 | c.327 others(1127): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C1orf159_chr1_1076823_1121089 | 1078565 | A | AGGCTGAG others(1103): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 326 | 0.0031 | 1110 | c.*43 others(1121): Show |
C1orf159 | ENSG00000131591.18 | transcript | ENST00000421241.7 | protein_coding | 3257 | chr1 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 410870 | C | CCGGATCC others(1103): Show |
upstream_gene_variant | MODIFIER | HG02572.hp2 | a0012 | a0012c0007 | a0012c0007t0004 | a0012c0007t0004g0046 | 1 | 322 | 0.0031 | 1110 | c.-19 others(1121): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1724 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 411301 | G | GCCCCTGC others(1103): Show |
upstream_gene_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0018 | a0001c0018t0008 | a0001c0018t0008g0173 | 1 | 322 | 0.0031 | 1110 | c.-23 others(1121): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 2155 | chr19 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1129047 | C | CATCTCGG others(1103): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0100 | 1 | 326 | 0.0031 | 1110 | c.-1- others(1125): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C8orf82_chr8_144520733_144534111 | 144531191 | A | AGAGCAGC others(1103): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 398 | 0.0025 | 1110 | c.-22 others(1121): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2081 | chr8 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46366255 | A | AGAAAGGT others(1103): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0038 | a0038c0066 | a0038c0066t0002 | a0038c0066t0002g0103 | 1 | 104 | 0.0096 | 1110 | c.830 others(1127): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | |||||||
CNST_chr1_246561456_246673595 | 246613656 | T | TCTCTCCC others(1103): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0173 | 1 | 320 | 0.0031 | 1110 | c.380 others(1127): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CYLC1_chrX_83856146_83891698 | 83878232 | T | TATAAATA others(1103): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 208 | 0.0048 | 1110 | c.192 others(1129): Show |
CYLC1 | ENSG00000183035.13 | transcript | ENST00000329312.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DOCK8_chr9_209865_470255 | 400011 | C | CATCACCA others(1103): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0044 | 1 | 256 | 0.0039 | 1110 | c.323 others(1127): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 26/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716421 | G | GTCATGGT others(1103): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0146 | 1 | 170 | 0.0059 | 1110 | c.86- others(1123): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | chr9 | TogoVar | |||||||
ENTREP2_chr15_29115252_29575979 | 29131600 | T | TCACACAC others(1103): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0003 | a0003c0014 | a0003c0014t0002 | a0003c0014t0002g0103 | 1 | 125 | 0.0080 | 1110 | c.928 others(1127): Show |
ENTREP2 | ENSG00000104059.5 | transcript | ENST00000261275.5 | protein_coding | 7/10 | chr15 | TogoVar | |||||||
EXD3_chr9_137301896_137428162 | 137355724 | A | AGGAAGGG others(1103): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0023 | 1 | 82 | 0.0122 | 1110 | c.757 others(1125): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6262058 | G | GTGACCCT others(1103): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 292 | 0.0034 | 1110 | c.571 others(1127): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240184976 | T | CCCCCTTC others(1103): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0102 | 1 | 174 | 0.0058 | 1110 | c.193 others(1129): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | chr1 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586256 | G | GGGGGGGA others(1103): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0218 | 1 | 308 | 0.0033 | 1110 | c.157 others(1125): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
GALR1_chr18_77244848_77282900 | 77252875 | C | CCACCACC others(1103): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0113 | a0001c0001t0113g0063 | 1 | 366 | 0.0027 | 1110 | c.666 others(1127): Show |
GALR1 | ENSG00000166573.6 | transcript | ENST00000299727.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LAMA5_chr20_62304065_62372312 | 62349741 | T | TGGTGGGG others(1103): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0067 | a0067c0065 | a0067c0065t0001 | a0067c0065t0001g0041 | 1 | 186 | 0.0054 | 1110 | c.956 others(1127): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 6/79 | chr20 | TogoVar | |||||||
LDLRAD3_chr11_35939062_36237136 | 36055104 | T | TGCATAGA others(1103): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 | 1 | 236 | 0.0042 | 1110 | c.193 others(1129): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | chr11 | TogoVar | |||||||
LRRC24_chr8_144517388_144532033 | 144531191 | A | AGAGCAGC others(1103): Show |
upstream_gene_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 398 | 0.0025 | 1110 | c.-42 others(1121): Show |
LRRC24 | ENSG00000254402.7 | transcript | ENST00000529415.7 | protein_coding | 4159 | chr8 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1103): Show |
downstream_gene_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 436 | 0.0023 | 1110 | c.*56 others(1121): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1103): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 436 | 0.0023 | 1110 | c.*56 others(1121): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MIOX_chr22_50481859_50495648 | 50495456 | C | CCCTCCCC others(1103): Show |
downstream_gene_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 436 | 0.0023 | 1110 | c.*56 others(1121): Show |
MIOX | ENSG00000100253.13 | transcript | ENST00000216075.11 | protein_coding | 4809 | chr22 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(1103): Show |
intron_variant | MODIFIER | HG02630.hp2 NA18906.hp1 |
a0007 | a0007c0009 | a0007c0009t0001 | a0007c0009t0001g0028 | 2 | 394 | 0.0051 | 1110 | c.-8+ others(1123): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(1103): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0149 | 1 | 394 | 0.0025 | 1110 | c.-8+ others(1123): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar |