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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNTNAP2_chr7_146111801_148425998 | 148331789 | G | GTGGATGG others(2736): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0039 | 1 | 4 | 0.2500 | 2743 | c.347 others(2764): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 21/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2736): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 213 | 0.0047 | 2743 | c.482 others(2758): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2736): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0113 | 1 | 213 | 0.0047 | 2743 | c.482 others(2758): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2736): Show |
intron_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 213 | 0.0047 | 2743 | c.482 others(2758): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
TXN_chr9_110238810_110261507 | 110239503 | T | TAAAAAGT others(2736): Show |
downstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 463 | 0.0022 | 2743 | c.*46 others(2754): Show |
TXN | ENSG00000136810.13 | transcript | ENST00000374517.6 | protein_coding | 4306 | chr9 | TogoVar | |||||||
UTRN_chr6_144280335_144858034 | 144288550 | T | TTTGATTC others(2736): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0028 | a0001c0028t0023 | a0001c0028t0023g0127 | 1 | 120 | 0.0083 | 2743 | c.-93 others(2760): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 1/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49779487 | C | CAAAAAAA others(2737): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 129 | 0.0078 | 2744 | c.68- others(2759): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2737): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 2 | 0.5000 | 2744 | c.44- others(2757): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2737): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0039 | a0001c0039t0001 | a0001c0039t0001g0149 | 1 | 2 | 0.5000 | 2744 | c.126 others(2761): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 272995 | T | TGAGACCC others(2737): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0003 | a0001c0003t0030 | a0001c0003t0030g0122 | 1 | 75 | 0.0133 | 2744 | c.438 others(2761): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2737): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0279 | 1 | 49 | 0.0204 | 2744 | c.192 others(2763): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2737): Show |
intron_variant | MODIFIER | HG01993.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0112 | 1 | 213 | 0.0047 | 2744 | c.482 others(2759): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2737): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01123.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0006 | a0001c0001t0001g0120 a0001c0002t0006g0109 |
2 | 214 | 0.0093 | 2744 | c.482 others(2759): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2737): Show |
intron_variant | MODIFIER | HG01255.hp2 NA18954.hp1 NA20300.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0006 | a0001c0001t0008g0118 a0001c0001t0008g0172 a0001c0002t0006g0104 others(1): Show |
4 | 216 | 0.0185 | 2744 | c.482 others(2759): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2737): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0111 | 1 | 213 | 0.0047 | 2744 | c.482 others(2759): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2738): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 | 1 | 50 | 0.0200 | 2745 | c.147 others(2762): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262171 | C | CACAGGGC others(2738): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0010 | a0010c0009 | a0010c0009t0047 | a0010c0009t0047g0011 | 1 | 284 | 0.0035 | 2745 | c.-95 others(2764): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(2738): Show |
intron_variant | MODIFIER | NA18957.hp2 NA19007.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0059 a0002c0002t0002g0060 |
2 | 128 | 0.0156 | 2745 | c.-95 others(2764): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CHL1_chr3_191763_414417 | 262424 | C | CAGATCTA others(2738): Show |
intron_variant | MODIFIER | NA18947.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0263 | 1 | 127 | 0.0079 | 2745 | c.-95 others(2764): Show |
CHL1 | ENSG00000134121.10 | transcript | ENST00000256509.7 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNTN5_chr11_99015949_100363885 | 99819302 | T | TCCCTCCC others(2738): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0009 | a0009c0008 | a0009c0008t0007 | a0009c0008t0007g0038 | 1 | 32 | 0.0313 | 2745 | c.56- others(2758): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585563 | G | GGGGGTAA others(2738): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 174 | 0.0057 | 2745 | c.294 others(2762): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2738): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0059 | a0059c0072 | a0059c0072t0001 | a0059c0072t0001g0158 | 1 | 8 | 0.1250 | 2745 | c.723 others(2762): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
MRPL22_chr5_154936073_154974411 | 154958481 | A | ACATTCTT others(2738): Show |
intron_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0108 | 1 | 351 | 0.0028 | 2745 | c.339 others(2762): Show |
MRPL22 | ENSG00000082515.18 | transcript | ENST00000523037.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432120 | T | TAGGGTGG others(2738): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0272 | 1 | 313 | 0.0032 | 2745 | c.101 others(2762): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2738): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0124 | 1 | 213 | 0.0047 | 2745 | c.482 others(2760): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2738): Show |
intron_variant | MODIFIER | HG04204.hp2 NA19081.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0002t0006 | a0001c0001t0008g0126 a0001c0002t0006g0123 |
2 | 214 | 0.0093 | 2745 | c.482 others(2760): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2738): Show |
intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0103 | 1 | 213 | 0.0047 | 2745 | c.482 others(2760): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2739): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 194 | 0.0052 | 2746 | c.573 others(2763): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2739): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 2 | 0.5000 | 2746 | c.44- others(2759): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
NPM2_chr8_22019134_22041897 | 22021592 | C | CAAAAGAA others(2739): Show |
upstream_gene_variant | MODIFIER | HG03139.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0169 | 1 | 322 | 0.0031 | 2746 | c.-31 others(2757): Show |
NPM2 | ENSG00000158806.14 | transcript | ENST00000518119.6 | protein_coding | 2541 | chr8 | TogoVar | |||||||
SH2D4B_chr10_80532902_80651560 | 80627643 | T | TACAAAAT others(2739): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0010 | a0010c0017 | a0010c0017t0003 | a0010c0017t0003g0284 | 1 | 254 | 0.0039 | 2746 | c.989 others(2763): Show |
SH2D4B | ENSG00000178217.15 | transcript | ENST00000646907.2 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLC22A11_chr11_64550941_64577875 | 64553153 | G | GGTGGTGA others(2739): Show |
upstream_gene_variant | MODIFIER | HG01934.hp2 HG02451.hp2 HG02818.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0132 a0001c0001t0002g0168 a0001c0001t0003g0024 others(3): Show |
8 | 10 | 0.8000 | 2746 | c.-28 others(2757): Show |
SLC22A11 | ENSG00000168065.16 | transcript | ENST00000301891.9 | protein_coding | 2787 | chr11 | TogoVar | |||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2739): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0146 a0002c0003t0001g0147 |
2 | 19 | 0.1053 | 2746 | c.372 others(2761): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2739): Show |
intron_variant | MODIFIER | HG03041.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0247 |
2 | 19 | 0.1053 | 2746 | c.372 others(2761): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2739): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0108 | 1 | 213 | 0.0047 | 2746 | c.482 others(2761): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2739): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0122 | 1 | 213 | 0.0047 | 2746 | c.482 others(2761): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
WDR70_chr5_37374318_37758435 | 37530649 | A | ATCTCCCA others(2739): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 227 | 0.0044 | 2746 | c.917 others(2765): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C1D_chr2_68036130_68068004 | 68055143 | T | TAAAAAAG others(2740): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0195 | 1 | 366 | 0.0027 | 2747 | c.-10 others(2764): Show |
C1D | ENSG00000197223.12 | transcript | ENST00000410067.8 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
CNTN5_chr11_99015949_100363885 | 99819302 | T | TCCCTCCC others(2740): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0007 | 1 | 32 | 0.0313 | 2747 | c.56- others(2760): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
COL23A1_chr5_178232618_178595393 | 178585731 | C | CACAGCCC others(2740): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0148 | 1 | 64 | 0.0156 | 2747 | c.294 others(2764): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 1/28 | chr5 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2740): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 2 | 0.5000 | 2747 | c.44- others(2760): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PRCC_chr1_156762535_156805815 | 156787819 | C | CTAATTTT others(2740): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 348 | 0.0029 | 2747 | c.108 others(2764): Show |
PRCC | ENSG00000143294.15 | transcript | ENST00000271526.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 253742 | C | CGTGACTA others(2740): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0111 | 1 | 79 | 0.0127 | 2747 | c.439 others(2764): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 305109 | A | AGAGGGGA others(2740): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110 | 1 | 20 | 0.0500 | 2747 | c.351 others(2766): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
SLC5A11_chr16_24840963_24916626 | 24872977 | A | AAAAAATA others(2740): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 18 | 0.0556 | 2747 | c.372 others(2762): Show |
SLC5A11 | ENSG00000158865.13 | transcript | ENST00000424767.7 | protein_coding | 6/16 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SPIC_chr12_101470336_101491997 | 101484138 | A | AGAAAGCT others(2740): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 392 | 0.0026 | 2747 | c.319 others(2764): Show |
SPIC | ENSG00000166211.8 | transcript | ENST00000551346.2 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TRPM4_chr19_49152792_49216836 | 49169391 | C | CCTCCCGA others(2740): Show |
intron_variant | MODIFIER | HG01243.hp1 NA19043.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0306 a0001c0003t0001g0308 |
2 | 235 | 0.0085 | 2747 | c.796 others(2762): Show |
TRPM4 | ENSG00000130529.16 | transcript | ENST00000252826.10 | protein_coding | 6/24 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UBR2_chr6_42559029_42698505 | 42574863 | T | TAATTTTT others(2740): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 337 | 0.0030 | 2747 | c.338 others(2762): Show |
UBR2 | ENSG00000024048.11 | transcript | ENST00000372901.2 | protein_coding | 2/46 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
USP47_chr11_11836972_11966887 | 11926961 | T | TCAAGAGT others(2740): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0064 | 1 | 325 | 0.0031 | 2747 | c.138 others(2766): Show |
USP47 | ENSG00000170242.19 | transcript | ENST00000527733.7 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2741): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0017 | a0002c0017t0001 | a0002c0017t0001g0283 | 1 | 50 | 0.0200 | 2748 | c.147 others(2765): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |