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 | 137502685 | A | AGGGGGAC others(2082): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0179 | 1 | 82 | 0.0122 | 2089 | c.147 others(2106): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
RNASET2_chr6_166917113_166961550 | 166920463 | T | TAAGACAG others(2082): Show |
downstream_gene_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 344 | 0.0029 | 2089 | c.*91 others(2100): Show |
RNASET2 | ENSG00000026297.17 | transcript | ENST00000508775.6 | protein_coding | 1649 | chr6 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763769 | C | CCTCTTGT others(2083): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0015 | a0015c0028 | a0015c0028t0001 | a0015c0028t0001g0149 | 1 | 215 | 0.0047 | 2090 | c.108 others(2107): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
CDHR2_chr5_176544342_176600824 | 176591765 | G | GGTGTTGA others(2083): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0052 | 1 | 327 | 0.0031 | 2090 | c.373 others(2107): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | chr5 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2083): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01071.hp1 |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0002a0002c0004t0002 | a0001c0003t0002g0095 a0002c0004t0002g0049 |
2 | 98 | 0.0204 | 2090 | c.101 others(2109): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2083): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164 | 1 | 4 | 0.2500 | 2090 | c.972 others(2103): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2083): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 4 | 0.2500 | 2090 | c.972 others(2103): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2083): Show |
intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 2 | 5 | 0.4000 | 2090 | c.972 others(2103): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2083): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01192.hp2 HG01943.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 4 | 7 | 0.5714 | 2090 | c.972 others(2103): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2083): Show |
intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0071 | 1 | 4 | 0.2500 | 2090 | c.972 others(2103): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GPRIN1_chr5_176590802_176615156 | 176591765 | G | GGTGTTGA others(2083): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 | a0005 | a0005c0007 | a0005c0007t0002 | a0005c0007t0002g0026 | 1 | 378 | 0.0026 | 2090 | c.*50 others(2101): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4036 | chr5 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 953966 | C | CTCCTGCA others(2083): Show |
intron_variant | MODIFIER | NA18973.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0063 | 1 | 253 | 0.0040 | 2090 | c.503 others(2105): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
MLPH_chr2_237482251_237560322 | 237543768 | G | GAGGGGAC others(2083): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0026 | a0026c0051 | a0026c0051t0001 | a0026c0051t0001g0074 | 1 | 256 | 0.0039 | 2090 | c.153 others(2109): Show |
MLPH | ENSG00000115648.14 | transcript | ENST00000264605.8 | protein_coding | 12/15 | chr2 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124439377 | G | GGAGACAG others(2083): Show |
intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0186 | 1 | 36 | 0.0278 | 2090 | c.816 others(2107): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124439377 | G | GGAGACAG others(2083): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0025 | a0025c0079 | a0025c0079t0030 | a0025c0079t0030g0013 | 1 | 36 | 0.0278 | 2090 | c.816 others(2107): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124439377 | G | GGAGACAG others(2083): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp2 others(49): Show |
a0001a0002a0003others(11): Show | a0001c0003a0001c0005a0001c0013others(44): Show | a0001c0003t0012a0001c0005t0008a0001c0013t0002others(48): Show | a0001c0003t0012g0046 a0001c0003t0012g0105 a0001c0005t0008g0071 others(49): Show |
52 | 87 | 0.5977 | 2090 | c.816 others(2107): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124439377 | G | GGAGACAG others(2083): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01261.hp1 others(3): Show |
a0001a0002a0004others(1): Show | a0001c0031a0001c0058a0001c0148others(3): Show | a0001c0031t0013a0001c0058t0032a0001c0148t0009others(3): Show | a0001c0031t0013g0073 a0001c0058t0032g0007 a0001c0148t0009g0068 others(3): Show |
6 | 41 | 0.1463 | 2090 | c.816 others(2107): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
NCOR2_chr12_124319415_124572612 | 124439377 | G | GGAGACAG others(2083): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0099 | a0001c0099t0012 | a0001c0099t0012g0012 | 1 | 36 | 0.0278 | 2090 | c.816 others(2107): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
SNRNP35_chr12_123453139_123471936 | 123453160 | A | ATATATAT others(2083): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 28 | 0.0357 | 2090 | c.-50 others(2101): Show |
SNRNP35 | ENSG00000184209.15 | transcript | ENST00000526639.3 | protein_coding | 4978 | chr12 | TogoVar | |||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(2083): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0004 | a0004c0004 | a0004c0004t0025 | a0004c0004t0025g0043 | 1 | 100 | 0.0100 | 2090 | c.-10 others(2107): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(2084): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0064 | 1 | 25 | 0.0400 | 2091 | c.259 others(2112): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763752 | T | TCTCCTCT others(2084): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0025 | a0025c0043 | a0025c0043t0028 | a0025c0043t0028g0125 | 1 | 194 | 0.0052 | 2091 | c.108 others(2108): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2084): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 50 | 0.0200 | 2091 | c.147 others(2108): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CACNA1C_chr12_2047987_2702950 | 2539583 | C | TTTCATAA others(2084): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0003 | a0001c0003t0037 | a0001c0003t0037g0003 | 1 | 85 | 0.0118 | 2091 | c.139 others(2112): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | chr12 | TogoVar | |||||||
CPNE7_chr16_89570758_89602246 | 89588206 | G | GCGTGTCA others(2084): Show |
intron_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0177 | 1 | 232 | 0.0043 | 2091 | c.928 others(2106): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586203 | A | AGGCGGAG others(2084): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255 | 1 | 278 | 0.0036 | 2091 | c.157 others(2106): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2084): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 | 1 | 4 | 0.2500 | 2091 | c.972 others(2104): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2084): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 4 | 0.2500 | 2091 | c.972 others(2104): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2084): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 4 | 0.2500 | 2091 | c.972 others(2104): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PDGFA_chr7_492258_524846 | 494645 | G | GGGGGACG others(2084): Show |
downstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0092 | a0001c0001t0092g0215 | 1 | 224 | 0.0045 | 2091 | c.*39 others(2102): Show |
PDGFA | ENSG00000197461.13 | transcript | ENST00000402802.8 | protein_coding | 2612 | chr7 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502693 | G | GTGGGAGA others(2084): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0162 | 1 | 176 | 0.0057 | 2091 | c.147 others(2108): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATATATA others(2084): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0008 | 1 | 8 | 0.1250 | 2091 | c.-20 others(2102): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251100 | A | ACCACCAT others(2084): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0000 | 1 | 218 | 0.0046 | 2091 | c.*44 others(2102): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3085 | chr10 | TogoVar | |||||||
SLC1A2_chr11_35246205_35424558 | 35248646 | G | GATTACTA others(2084): Show |
downstream_gene_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0199 | 1 | 4 | 0.2500 | 2091 | c.*12 others(2104): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2558 | chr11 | TogoVar | |||||||
SLC1A2_chr11_35246205_35424558 | 35248646 | G | GATTACTA others(2084): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0078 | a0001c0001t0078g0211 | 1 | 4 | 0.2500 | 2091 | c.*12 others(2104): Show |
SLC1A2 | ENSG00000110436.13 | transcript | ENST00000278379.9 | protein_coding | 2558 | chr11 | TogoVar | |||||||
TWIST2_chr2_238843085_238915534 | 238870271 | C | CACACACA others(2084): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 312 | 0.0032 | 2091 | c.*35 others(2110): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2085): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0029 | 1 | 44 | 0.0227 | 2092 | c.108 others(2109): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2085): Show |
intron_variant | MODIFIER | HG03195.hp2 HG03486.hp1 HG03540.hp1 |
a0001a0023 | a0001c0001a0023c0022 | a0001c0001t0001a0023c0022t0001 | a0001c0001t0001g0160 a0001c0001t0001g0170 a0023c0022t0001g0119 |
3 | 46 | 0.0652 | 2092 | c.108 others(2109): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2085): Show |
intron_variant | MODIFIER | HG01123.hp1 HG06807.hp2 |
a0002 | a0002c0002 | a0002c0002t0019 | a0002c0002t0019g0040 a0002c0002t0019g0041 |
2 | 45 | 0.0444 | 2092 | c.108 others(2109): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
DPEP1_chr16_89608642_89643433 | 89618964 | C | CTCCCTGC others(2085): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 161 | 0.0062 | 2092 | c.-10 others(2111): Show |
DPEP1 | ENSG00000015413.10 | transcript | ENST00000690203.1 | protein_coding | 1/10 | chr16 | TogoVar | |||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2085): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 4 | 0.2500 | 2092 | c.972 others(2105): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(2085): Show |
intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0040 | a0001c0040t0002 | a0001c0040t0002g0029 | 1 | 95 | 0.0105 | 2092 | c.*11 others(2113): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
LRRC27_chr10_132327193_132386508 | 132364519 | G | GCACTTAC others(2085): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0191 | 1 | 207 | 0.0048 | 2092 | c.129 others(2109): Show |
LRRC27 | ENSG00000148814.18 | transcript | ENST00000368614.8 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NCOR2_chr12_124319415_124572612 | 124439377 | G | GGAGACAG others(2085): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0005 | a0005c0064 | a0005c0064t0028 | a0005c0064t0028g0161 | 1 | 36 | 0.0278 | 2092 | c.816 others(2109): Show |
NCOR2 | ENSG00000196498.15 | transcript | ENST00000405201.6 | protein_coding | 9/48 | chr12 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1035495 | C | CCCCCCAC others(2086): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0048 | 1 | 40 | 0.0250 | 2093 | c.179 others(2114): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 16/22 | chr17 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46469974 | A | AGGGAGGA others(2086): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0035 | a0035c0046 | a0035c0046t0001 | a0035c0046t0001g0035 | 1 | 13 | 0.0769 | 2093 | c.354 others(2112): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2086): Show |
intron_variant | MODIFIER | NA20300.hp1 | a0003 | a0003c0019 | a0003c0019t0002 | a0003c0019t0002g0158 | 1 | 97 | 0.0103 | 2093 | c.101 others(2112): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586193 | A | AGTCAAAG others(2086): Show |
splice_region_variant others(1): Show |
LOW | HG00558.hp1 | a0005 | a0005c0011 | a0005c0011t0004 | a0005c0011t0004g0054 | 1 | 287 | 0.0035 | 2093 | c.157 others(2106): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586259 | G | GGGGAAAG others(2086): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0285 | 1 | 261 | 0.0038 | 2093 | c.157 others(2108): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(2086): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 | 1 | 4 | 0.2500 | 2093 | c.972 others(2106): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |