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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2731): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 194 | 0.0052 | 2738 | c.573 others(2755): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2731): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 194 | 0.0052 | 2738 | c.573 others(2755): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2731): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 194 | 0.0052 | 2738 | c.573 others(2755): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2731): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 194 | 0.0052 | 2738 | c.573 others(2755): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2731): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 194 | 0.0052 | 2738 | c.573 others(2755): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
CCDC47_chr17_63740255_63778597 | 63768396 | T | TAAAAATT others(2731): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0199 | 1 | 346 | 0.0029 | 2738 | c.-19 others(2755): Show |
CCDC47 | ENSG00000108588.15 | transcript | ENST00000225726.10 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084560 | A | AGTAGTGG others(2731): Show |
intron_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0268 | 1 | 158 | 0.0063 | 2738 | c.126 others(2755): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
F13A1_chr6_6139084_6325662 | 6262095 | G | GTGACCCT others(2731): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0215 | 1 | 234 | 0.0043 | 2738 | c.571 others(2755): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6262095 | G | GTGACCCT others(2731): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0004 | a0004c0004 | a0004c0004t0003 | a0004c0004t0003g0166 | 1 | 234 | 0.0043 | 2738 | c.571 others(2755): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
F13A1_chr6_6139084_6325662 | 6262095 | G | GTGACCCT others(2731): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0211 a0003c0003t0002g0212 |
2 | 235 | 0.0085 | 2738 | c.571 others(2755): Show |
F13A1 | ENSG00000124491.16 | transcript | ENST00000264870.8 | protein_coding | 4/14 | chr6 | TogoVar | |||||||
GAB3_chrX_154670249_154756077 | 154688748 | T | TAGGAAAG others(2731): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0045 | 1 | 255 | 0.0039 | 2738 | c.153 others(2757): Show |
GAB3 | ENSG00000160219.12 | transcript | ENST00000424127.3 | protein_coding | 8/9 | chrX | TogoVar | |||||||
MED16_chr19_862963_898187 | 879404 | T | TCCCTGGT others(2731): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0012 | a0002c0012t0005 | a0002c0012t0005g0025 | 1 | 9 | 0.1111 | 2738 | c.135 others(2755): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 8/15 | chr19 | TogoVar | |||||||
SLC12A7_chr5_1045384_1117063 | 1072888 | C | CAGCCCCC others(2731): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 103 | 0.0097 | 2738 | c.224 others(2755): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
SLC12A8_chr3_125077644_125217748 | 125089785 | C | CTCAAGCA others(2731): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00609.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0175 a0001c0001t0003g0317 |
2 | 50 | 0.0400 | 2738 | c.192 others(2757): Show |
SLC12A8 | ENSG00000221955.11 | transcript | ENST00000469902.6 | protein_coding | 12/13 | chr3 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294324 | T | TCAGCCAC others(2731): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0190 | 1 | 285 | 0.0035 | 2738 | c.340 others(2755): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294324 | T | TCAGCCAC others(2731): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 285 | 0.0035 | 2738 | c.340 others(2755): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GAGTCTGG others(2732): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004 | 1 | 197 | 0.0051 | 2739 | c.578 others(2752): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | chr19 | TogoVar | |||||||
ALDH16A1_chr19_49448225_49476050 | 49461541 | G | GAGTCTGG others(2732): Show |
intron_variant | MODIFIER | HG02074.hp1 HG04228.hp1 |
a0001a0002 | a0001c0009a0002c0002 | a0001c0009t0002a0002c0002t0002 | a0001c0009t0002g0166 a0002c0002t0002g0141 |
2 | 198 | 0.0101 | 2739 | c.578 others(2752): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 5/16 | chr19 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2732): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 194 | 0.0052 | 2739 | c.573 others(2756): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2732): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 194 | 0.0052 | 2739 | c.573 others(2756): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2732): Show |
intron_variant | MODIFIER | NA19090.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 194 | 0.0052 | 2739 | c.573 others(2756): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2732): Show |
intron_variant | MODIFIER | NA19009.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 2 | 0.5000 | 2739 | c.44- others(2752): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2732): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0010 | 1 | 227 | 0.0044 | 2739 | c.-25 others(2756): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(2732): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0010 | a0010c0010 | a0010c0010t0001 | a0010c0010t0001g0187 | 1 | 32 | 0.0313 | 2739 | c.218 others(2754): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
NPM2_chr8_22019134_22041897 | 22021592 | C | CAAAAGAA others(2732): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 HG03195.hp1 |
a0003 | a0003c0003a0003c0005 | a0003c0003t0001a0003c0005t0001 | a0003c0003t0001g0168 a0003c0005t0001g0167 |
2 | 323 | 0.0062 | 2739 | c.-31 others(2750): Show |
NPM2 | ENSG00000158806.14 | transcript | ENST00000518119.6 | protein_coding | 2541 | chr8 | TogoVar | |||||||
UTRN_chr6_144280335_144858034 | 144288550 | T | TTTGATTC others(2732): Show |
intron_variant | MODIFIER | HG03098.hp2 HG03139.hp2 |
a0001 | a0001c0006 | a0001c0006t0003a0001c0006t0005 | a0001c0006t0003g0125 a0001c0006t0005g0124 |
2 | 121 | 0.0165 | 2739 | c.-93 others(2756): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 1/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74467839 | T | TTGCAGTT others(2733): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 198 | 0.0051 | 2740 | c.556 others(2759): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2733): Show |
intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 194 | 0.0052 | 2740 | c.573 others(2757): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
C2orf80_chr2_208160347_208195030 | 208168760 | T | TAAGAAAG others(2733): Show |
intron_variant | MODIFIER | HG03017.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0130 |
2 | 195 | 0.0103 | 2740 | c.573 others(2757): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2733): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 | 1 | 2 | 0.5000 | 2740 | c.44- others(2753): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGGTTC others(2733): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0104 | 1 | 270 | 0.0037 | 2740 | c.-5+ others(2753): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MEGF6_chr1_3482951_3616508 | 3502047 | C | CCCACACC others(2733): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0078 | a0078c0124 | a0078c0124t0003 | a0078c0124t0003g0064 | 1 | 290 | 0.0034 | 2740 | c.218 others(2757): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
WDR70_chr5_37374318_37758435 | 37530649 | A | ATCTCCCA others(2733): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 227 | 0.0044 | 2740 | c.917 others(2759): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
WDR70_chr5_37374318_37758435 | 37530649 | A | ATCTCCCA others(2733): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02896.hp1 HG02897.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0010 a0001c0001t0001g0011 others(4): Show |
7 | 233 | 0.0300 | 2740 | c.917 others(2759): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ARL8B_chr3_5117292_5185911 | 5169354 | A | ACTTCTGG others(2734): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 | 1 | 301 | 0.0033 | 2741 | c.124 others(2758): Show |
ARL8B | ENSG00000134108.14 | transcript | ENST00000256496.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2734): Show |
intron_variant | MODIFIER | NA18971.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 2 | 0.5000 | 2741 | c.44- others(2754): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DENND5A_chr11_9133825_9270350 | 9174211 | T | TAGAAAAC others(2734): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014 | 1 | 282 | 0.0035 | 2741 | c.190 others(2760): Show |
DENND5A | ENSG00000184014.9 | transcript | ENST00000328194.8 | protein_coding | 8/22 | chr11 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 47648666 | T | TGGGAAGT others(2734): Show |
intron_variant | MODIFIER | NA18966.hp1 NA18993.hp2 |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0034 a0003c0003t0003g0035 |
2 | 119 | 0.0168 | 2741 | c.280 others(2760): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
MDGA2_chr14_46835092_47680605 | 47648666 | T | TGGGAAGT others(2734): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0036 | 1 | 118 | 0.0085 | 2741 | c.280 others(2760): Show |
MDGA2 | ENSG00000139915.22 | transcript | ENST00000399232.8 | protein_coding | 1/16 | chr14 | TogoVar | |||||||
RNF38_chr9_36331400_36405269 | 36396786 | T | TAAAAAAA others(2734): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 399 | 0.0025 | 2741 | c.12+ others(2756): Show |
RNF38 | ENSG00000137075.18 | transcript | ENST00000259605.11 | protein_coding | 1/11 | chr9 | TogoVar | |||||||
UTRN_chr6_144280335_144858034 | 144288550 | T | TTTGATTC others(2734): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0006 | a0001c0006t0005 | a0001c0006t0005g0123 | 1 | 120 | 0.0083 | 2741 | c.-93 others(2758): Show |
UTRN | ENSG00000152818.20 | transcript | ENST00000367545.8 | protein_coding | 1/74 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
WDR70_chr5_37374318_37758435 | 37530649 | A | ATCTCCCA others(2734): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 227 | 0.0044 | 2741 | c.917 others(2760): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507236 | G | GGTAGACA others(2735): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 207 | 0.0048 | 2742 | c.624 others(2759): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NCAPG2_chr7_158626169_158709804 | 158668331 | C | CCCTTACC others(2735): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0319 | 1 | 356 | 0.0028 | 2742 | c.147 others(2761): Show |
NCAPG2 | ENSG00000146918.20 | transcript | ENST00000356309.8 | protein_coding | 13/27 | chr7 | TogoVar | |||||||
SLC12A6_chr15_34224784_34342781 | 34308298 | T | TAGAAATG others(2735): Show |
intron_variant | MODIFIER | NA18981.hp1 | a0001 | a0001c0005 | a0001c0005t0013 | a0001c0005t0013g0273 | 1 | 272 | 0.0037 | 2742 | c.271 others(2761): Show |
SLC12A6 | ENSG00000140199.13 | transcript | ENST00000354181.8 | protein_coding | 2/25 | chr15 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2735): Show |
intron_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0125 | 1 | 213 | 0.0047 | 2742 | c.482 others(2757): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77578794 | T | TAAAAAGC others(2735): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0116 a0001c0001t0003g0117 |
2 | 214 | 0.0093 | 2742 | c.482 others(2757): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3/11 | chr14 | TogoVar | |||||||
TXN_chr9_110238810_110261507 | 110239503 | T | TAAAAAGT others(2735): Show |
downstream_gene_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 463 | 0.0022 | 2742 | c.*46 others(2753): Show |
TXN | ENSG00000136810.13 | transcript | ENST00000374517.6 | protein_coding | 4306 | chr9 | TogoVar | |||||||
USP47_chr11_11836972_11966887 | 11926961 | T | TCAAGAGT others(2735): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0306 | 1 | 325 | 0.0031 | 2742 | c.138 others(2761): Show |
USP47 | ENSG00000170242.19 | transcript | ENST00000527733.7 | protein_coding | 11/27 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
WDR70_chr5_37374318_37758435 | 37530649 | A | ATCTCCCA others(2735): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 227 | 0.0044 | 2742 | c.917 others(2761): Show |
WDR70 | ENSG00000082068.9 | transcript | ENST00000265107.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar |