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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PTPRK_chr6_127963785_128525599 | 128005705 | A | AAAGACAT others(4125): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0031 | 1 | 29 | 0.0345 | 4132 | c.233 others(4149): Show |
PTPRK | ENSG00000152894.15 | transcript | ENST00000368226.9 | protein_coding | 14/29 | chr6 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1064992 | G | GCATGTTC others(4126): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0120 | 1 | 271 | 0.0037 | 4133 | c.118 others(4152): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586256 | G | GGGGGGGA others(4126): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0015 | a0015c0020 | a0015c0020t0037 | a0015c0020t0037g0162 | 1 | 215 | 0.0047 | 4133 | c.157 others(4148): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(4127): Show |
intron_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 16 | 0.0625 | 4134 | c.164 others(4153): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92329738 | G | GACTTTAG others(4127): Show |
intron_variant | MODIFIER | NA18940.hp2 | a0045 | a0045c0016 | a0045c0016t0030 | a0045c0016t0030g0040 | 1 | 7 | 0.1429 | 4134 | c.-17 others(4153): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4127): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0022 | 1 | 8 | 0.1250 | 4134 | c.-45 others(4143): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
PLEKHG4B_chr5_87168_194966 | 101562 | T | TCTGTAGG others(4127): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0037 | a0037c0062 | a0037c0062t0012 | a0037c0062t0012g0164 | 1 | 175 | 0.0057 | 4134 | c.45+ others(4149): Show |
PLEKHG4B | ENSG00000153404.15 | transcript | ENST00000637938.2 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PTPRK_chr6_127963785_128525599 | 128005705 | A | AAAGACAT others(4127): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 29 | 0.0345 | 4134 | c.233 others(4151): Show |
PTPRK | ENSG00000152894.15 | transcript | ENST00000368226.9 | protein_coding | 14/29 | chr6 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208176941 | C | CCGTATAC others(4128): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 233 | 0.0043 | 4135 | c.366 others(4152): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(4128): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 55 | 0.0182 | 4135 | c.891 others(4150): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
FAT3_chr11_92219818_92901473 | 92329738 | G | GACTTTAG others(4128): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0014 | a0014c0045 | a0014c0045t0003 | a0014c0045t0003g0079 | 1 | 7 | 0.1429 | 4135 | c.-17 others(4154): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PTPRK_chr6_127963785_128525599 | 128005705 | A | AAAGACAT others(4128): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0013 | 1 | 29 | 0.0345 | 4135 | c.233 others(4152): Show |
PTPRK | ENSG00000152894.15 | transcript | ENST00000368226.9 | protein_coding | 14/29 | chr6 | TogoVar | |||||||
PTPRK_chr6_127963785_128525599 | 128005705 | A | AAAGACAT others(4128): Show |
intron_variant | MODIFIER | HG01261.hp2 HG02735.hp2 HG03942.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0008a0001c0002t0001 | a0001c0001t0001g0021 a0001c0001t0001g0027 a0001c0001t0008g0012 others(1): Show |
4 | 32 | 0.1250 | 4135 | c.233 others(4152): Show |
PTPRK | ENSG00000152894.15 | transcript | ENST00000368226.9 | protein_coding | 14/29 | chr6 | TogoVar | |||||||
PTPRK_chr6_127963785_128525599 | 128005705 | A | AAAGACAT others(4128): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0044 | 1 | 29 | 0.0345 | 4135 | c.233 others(4152): Show |
PTPRK | ENSG00000152894.15 | transcript | ENST00000368226.9 | protein_coding | 14/29 | chr6 | TogoVar | |||||||
PTPRK_chr6_127963785_128525599 | 128005705 | A | AAAGACAT others(4128): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02922.hp1 HG03225.hp1 |
a0001 | a0001c0005a0001c0009 | a0001c0005t0001a0001c0009t0001 | a0001c0005t0001g0015 a0001c0005t0001g0019 a0001c0009t0001g0016 |
3 | 31 | 0.0968 | 4135 | c.233 others(4152): Show |
PTPRK | ENSG00000152894.15 | transcript | ENST00000368226.9 | protein_coding | 14/29 | chr6 | TogoVar | |||||||
PTPRK_chr6_127963785_128525599 | 128005705 | A | AAAGACAT others(4128): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 29 | 0.0345 | 4135 | c.233 others(4152): Show |
PTPRK | ENSG00000152894.15 | transcript | ENST00000368226.9 | protein_coding | 14/29 | chr6 | TogoVar | |||||||
PTPRK_chr6_127963785_128525599 | 128005705 | A | AAAGACAT others(4128): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02145.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001a0001c0007t0006 | a0001c0001t0001g0008 a0001c0001t0001g0010 a0001c0001t0001g0034 others(2): Show |
5 | 33 | 0.1515 | 4135 | c.233 others(4152): Show |
PTPRK | ENSG00000152894.15 | transcript | ENST00000368226.9 | protein_coding | 14/29 | chr6 | TogoVar | |||||||
PTPRK_chr6_127963785_128525599 | 128005705 | A | AAAGACAT others(4128): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0002 | a0002c0008 | a0002c0008t0001 | a0002c0008t0001g0020 | 1 | 29 | 0.0345 | 4135 | c.233 others(4152): Show |
PTPRK | ENSG00000152894.15 | transcript | ENST00000368226.9 | protein_coding | 14/29 | chr6 | TogoVar | |||||||
PTPRK_chr6_127963785_128525599 | 128005705 | A | AAAGACAT others(4128): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0002 | 1 | 29 | 0.0345 | 4135 | c.233 others(4152): Show |
PTPRK | ENSG00000152894.15 | transcript | ENST00000368226.9 | protein_coding | 14/29 | chr6 | TogoVar | |||||||
PTPRK_chr6_127963785_128525599 | 128005705 | A | AAAGACAT others(4128): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02559.hp2 NA18906.hp1 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0007 | a0001c0001t0001g0039 a0001c0001t0001g0046 a0001c0014t0007g0005 |
3 | 31 | 0.0968 | 4135 | c.233 others(4152): Show |
PTPRK | ENSG00000152894.15 | transcript | ENST00000368226.9 | protein_coding | 14/29 | chr6 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(4129): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0007 | a0007c0019 | a0007c0019t0001 | a0007c0019t0001g0024 | 1 | 13 | 0.0769 | 4136 | c.354 others(4155): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CTNNBL1_chr20_37689030_37877118 | 37755530 | T | TAAGAGTG others(4129): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 264 | 0.0038 | 4136 | c.467 others(4153): Show |
CTNNBL1 | ENSG00000132792.21 | transcript | ENST00000361383.11 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
DYM_chr18_49031387_49465645 | 49203065 | T | TCCGCCCG others(4129): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0001 | 1 | 274 | 0.0036 | 4136 | c.162 others(4155): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716086 | T | TGGGGGAG others(4129): Show |
intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0109 | 1 | 166 | 0.0060 | 4136 | c.86- others(4149): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FAT3_chr11_92219818_92901473 | 92329738 | G | GACTTTAG others(4129): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0002 | a0002c0001 | a0002c0001t0008 | a0002c0001t0008g0046 | 1 | 7 | 0.1429 | 4136 | c.-17 others(4155): Show |
FAT3 | ENSG00000165323.16 | transcript | ENST00000525166.6 | protein_coding | 1/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PNPLA7_chr9_137454952_137555402 | 137502728 | C | CGGGGGGG others(4129): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0017 | a0017c0049 | a0017c0049t0001 | a0017c0049t0001g0136 | 1 | 181 | 0.0055 | 4136 | c.147 others(4155): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
VCX2_chrX_8164944_8176267 | 8169141 | T | TCCTCCCT others(4129): Show |
downstream_gene_variant | MODIFIER | HG02683.hp2 | a0007 | a0007c0019 | a0007c0019t0004 | a0007c0019t0004g0042 | 1 | 91 | 0.0110 | 4136 | c.*89 others(4145): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 802 | chrX | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203065 | T | TCCGCCCG others(4130): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0106 | 1 | 274 | 0.0036 | 4137 | c.162 others(4156): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203065 | T | TCCGCCCG others(4130): Show |
intron_variant | MODIFIER | HG02559.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0038 | a0001c0001t0007g0111 a0001c0001t0038g0107 |
2 | 275 | 0.0073 | 4137 | c.162 others(4156): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203065 | T | TCCGCCCG others(4130): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0112 | 1 | 274 | 0.0036 | 4137 | c.162 others(4156): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203065 | T | TCCGCCCG others(4130): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02723.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0105 a0001c0001t0007g0108 a0001c0001t0007g0109 others(1): Show |
4 | 277 | 0.0144 | 4137 | c.162 others(4156): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
DYM_chr18_49031387_49465645 | 49203065 | T | TCCGCCCG others(4131): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0005 | a0003c0005t0039 | a0003c0005t0039g0110 | 1 | 274 | 0.0036 | 4138 | c.162 others(4157): Show |
DYM | ENSG00000141627.14 | transcript | ENST00000675505.1 | protein_coding | 14/17 | chr18 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185090 | C | CCCCTTCT others(4131): Show |
intron_variant | MODIFIER | HG00140.hp2 | a0028 | a0028c0033 | a0028c0033t0001 | a0028c0033t0001g0018 | 1 | 147 | 0.0068 | 4138 | c.193 others(4157): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586256 | G | GGGGGGAA others(4131): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0179 | 1 | 215 | 0.0047 | 4138 | c.157 others(4153): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46366255 | A | AGAAAGGT others(4132): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0017 | a0017c0045 | a0017c0045t0001 | a0017c0045t0001g0030 | 1 | 3 | 0.3333 | 4139 | c.830 others(4156): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432156 | C | CAGGGTGG others(4133): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0004 | a0001c0004t0010 | a0001c0004t0010g0182 | 1 | 160 | 0.0063 | 4140 | c.101 others(4157): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
B3GAT1_chr11_134373508_134417242 | 134408225 | G | GCACCGAC others(4134): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0203 | 1 | 325 | 0.0031 | 4141 | c.-28 others(4160): Show |
B3GAT1 | ENSG00000109956.13 | transcript | ENST00000312527.9 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322912 | T | TATATGTA others(4134): Show |
upstream_gene_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 271 | 0.0037 | 4141 | c.-21 others(4152): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2057 | chr21 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419528 | C | CTCTCTGT others(4134): Show |
upstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0041 | 1 | 250 | 0.0040 | 4141 | c.-44 others(4150): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 2 | chr19 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811204 | T | TTCCCTCC others(4134): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0046 | 1 | 169 | 0.0059 | 4141 | c.773 others(4156): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 304160 | A | AGATGGGG others(4134): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 128 | 0.0078 | 4141 | c.351 others(4160): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
COBL_chr7_51011212_51321809 | 51321678 | T | TGTTTTGT others(4135): Show |
upstream_gene_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0039 | 1 | 228 | 0.0044 | 4142 | c.-50 others(4153): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 4870 | chr7 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414460 | G | GGGGAAGG others(4135): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0199 | 1 | 330 | 0.0030 | 4142 | c.115 others(4159): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294628 | G | GCAAGTTA others(4136): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0378 | 1 | 340 | 0.0029 | 4143 | c.340 others(4160): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
LRRC27_chr10_132327193_132386508 | 132364472 | T | TACACCCA others(4137): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0246 | 1 | 216 | 0.0046 | 4144 | c.129 others(4161): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33322912 | T | TATATGTA others(4138): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0038 | a0001c0001t0038g0096 | 1 | 271 | 0.0037 | 4145 | c.-21 others(4156): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2057 | chr21 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4138): Show |
upstream_gene_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 4145 | c.-45 others(4154): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4139): Show |
upstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 8 | 0.1250 | 4146 | c.-45 others(4155): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(4141): Show |
upstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0173 | 1 | 8 | 0.1250 | 4148 | c.-45 others(4157): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
PPFIA1_chr11_70265690_70389396 | 70371393 | T | TGGTGGCG others(4142): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02572.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0054 a0001c0004t0004g0055 a0001c0004t0004g0057 others(3): Show |
6 | 67 | 0.0896 | 4149 | c.286 others(4166): Show |
PPFIA1 | ENSG00000131626.19 | transcript | ENST00000253925.12 | protein_coding | 21/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |