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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RPH3AL_chr17_207389_357807 | 304161 | G | GATGGGGA others(2064): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0065 | 1 | 102 | 0.0098 | 2071 | c.351 others(2090): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 5/9 | chr17 | TogoVar | |||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(2064): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0017 | 1 | 50 | 0.0200 | 2071 | c.*24 others(2082): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2065): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0109 | 1 | 44 | 0.0227 | 2072 | c.108 others(2089): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2065): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0057 | 1 | 44 | 0.0227 | 2072 | c.108 others(2089): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5932397 | G | GATAGACT others(2065): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 153 | 0.0065 | 2072 | c.23- others(2087): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5932397 | G | GATAGACT others(2065): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 153 | 0.0065 | 2072 | c.23- others(2087): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5932397 | G | GATAGACT others(2065): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02572.hp1 HG02615.hp1 others(2): Show |
a0001a0002a0014 | a0001c0001a0002c0003a0002c0006others(1): Show | a0001c0001t0002a0002c0003t0002a0002c0006t0002others(1): Show | a0001c0001t0002g0159 a0002c0003t0002g0158 a0002c0003t0002g0160 others(2): Show |
5 | 157 | 0.0318 | 2072 | c.23- others(2087): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ANO2_chr12_5557655_5950259 | 5932397 | G | GATAGACT others(2065): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0152 | 1 | 153 | 0.0065 | 2072 | c.23- others(2087): Show |
ANO2 | ENSG00000047617.18 | transcript | ENST00000682330.1 | protein_coding | 1/24 | chr12 | TogoVar | |||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2065): Show |
intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 50 | 0.0200 | 2072 | c.147 others(2089): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2065): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0053 | 1 | 50 | 0.0200 | 2072 | c.147 others(2089): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2065): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0225 | 1 | 76 | 0.0132 | 2072 | c.955 others(2089): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CCDC6_chr10_59783747_59911556 | 59882071 | G | GGCGGGAG others(2065): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 279 | 0.0036 | 2072 | c.303 others(2091): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(2065): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0077 | 1 | 30 | 0.0333 | 2072 | c.445 others(2087): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2065): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0074 | 1 | 97 | 0.0103 | 2072 | c.101 others(2091): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2065): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0054 | 1 | 97 | 0.0103 | 2072 | c.101 others(2091): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2065): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 HG02896.hp2 HG02897.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0037 | a0001c0001t0012g0009 a0001c0001t0012g0025 a0001c0001t0012g0088 others(2): Show |
7 | 72 | 0.0972 | 2072 | c.*68 others(2083): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2065): Show |
downstream_gene_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0203 | 1 | 66 | 0.0152 | 2072 | c.*68 others(2083): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2065): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG01255.hp2 HG01256.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002a0001c0002t0016 | a0001c0001t0003g0045 a0001c0002t0002g0014 a0001c0002t0002g0185 others(2): Show |
5 | 70 | 0.0714 | 2072 | c.*68 others(2083): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2065): Show |
downstream_gene_variant | MODIFIER | HG02717.hp2 HG02976.hp2 NA18948.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 a0001c0001t0001g0061 |
3 | 68 | 0.0441 | 2072 | c.*68 others(2083): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2065): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0266 | 1 | 66 | 0.0152 | 2072 | c.*68 others(2083): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2065): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0067 | a0001c0001t0067g0197 | 1 | 66 | 0.0152 | 2072 | c.*68 others(2083): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2065): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0253 | 1 | 66 | 0.0152 | 2072 | c.*68 others(2083): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2065): Show |
downstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0002 | a0001c0002t0064 | a0001c0002t0064g0002 | 1 | 66 | 0.0152 | 2072 | c.*68 others(2083): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2065): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0256 | 1 | 66 | 0.0152 | 2072 | c.*68 others(2083): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2065): Show |
downstream_gene_variant | MODIFIER | HG02486.hp2 HG02622.hp1 HG02970.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0029 a0001c0002t0013g0030 a0001c0002t0013g0103 others(2): Show |
6 | 71 | 0.0845 | 2072 | c.*68 others(2083): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33323366 | T | TATGGAAT others(2065): Show |
upstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 | 1 | 293 | 0.0034 | 2072 | c.-16 others(2083): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1603 | chr21 | TogoVar | |||||||
OPCML_chr11_132409981_133537501 | 133354205 | G | GTGGTGGT others(2065): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0056 | 1 | 55 | 0.0182 | 2072 | c.61+ others(2091): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(2065): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0099 | 1 | 35 | 0.0286 | 2072 | c.-28 others(2091): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2066): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0142 | 1 | 44 | 0.0227 | 2073 | c.108 others(2090): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2066): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0081 | 1 | 2 | 0.5000 | 2073 | c.126 others(2090): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DLEC1_chr3_38034208_38129025 | 38084579 | G | GGGGGGTG others(2066): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0078 | 1 | 2 | 0.5000 | 2073 | c.126 others(2090): Show |
DLEC1 | ENSG00000008226.20 | transcript | ENST00000308059.11 | protein_coding | 7/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2066): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 |
a0001a0003 | a0001c0003a0003c0005 | a0001c0003t0002a0003c0005t0002 | a0001c0003t0002g0097 a0003c0005t0002g0118 |
2 | 98 | 0.0204 | 2073 | c.101 others(2092): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2066): Show |
downstream_gene_variant | MODIFIER | NA18973.hp1 NA19054.hp2 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0038 | a0001c0001t0012g0024 a0001c0001t0038g0094 |
3 | 68 | 0.0441 | 2073 | c.*68 others(2084): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2066): Show |
downstream_gene_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0054 | 1 | 66 | 0.0152 | 2073 | c.*68 others(2084): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2066): Show |
downstream_gene_variant | MODIFIER | NA19091.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0078 | 1 | 66 | 0.0152 | 2073 | c.*68 others(2084): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2066): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01928.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0004a0001c0002t0007others(5): Show | a0001c0002t0002g0107 a0001c0002t0004g0034 a0001c0002t0007g0002 others(5): Show |
9 | 74 | 0.1216 | 2073 | c.*68 others(2084): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2066): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG01361.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0072a0001c0001t0087others(1): Show | a0001c0001t0001g0003 a0001c0001t0072g0251 a0001c0001t0087g0056 others(1): Show |
4 | 69 | 0.0580 | 2073 | c.*68 others(2084): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2066): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00621.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0015 others(39): Show |
50 | 115 | 0.4348 | 2073 | c.*68 others(2084): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2066): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG01168.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0063 a0001c0001t0001g0242 |
5 | 70 | 0.0714 | 2073 | c.*68 others(2084): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2066): Show |
downstream_gene_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0049 | 1 | 66 | 0.0152 | 2073 | c.*68 others(2084): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2066): Show |
downstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0158 | 1 | 66 | 0.0152 | 2073 | c.*68 others(2084): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2066): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 HG02965.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0026a0001c0001t0033a0001c0001t0055others(1): Show | a0001c0001t0026g0221 a0001c0001t0033g0157 a0001c0001t0055g0257 others(1): Show |
4 | 69 | 0.0580 | 2073 | c.*68 others(2084): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2066): Show |
downstream_gene_variant | MODIFIER | HG02698.hp2 HG02735.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0096 |
2 | 67 | 0.0299 | 2073 | c.*68 others(2084): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2066): Show |
downstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0092 | 1 | 66 | 0.0152 | 2073 | c.*68 others(2084): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
GNA11_chr19_3089362_3128999 | 3128012 | T | TCAGGCTG others(2066): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0159 | 1 | 66 | 0.0152 | 2073 | c.*68 others(2084): Show |
GNA11 | ENSG00000088256.9 | transcript | ENST00000078429.9 | protein_coding | 4014 | chr19 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399271 | C | CCACCACC others(2066): Show |
intron_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0189 | 1 | 227 | 0.0044 | 2073 | c.-25 others(2090): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
MRPL28_chr16_361969_375538 | 370390 | G | GCTACCCC others(2066): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0191 | 1 | 6 | 0.1667 | 2073 | c.-8+ others(2086): Show |
MRPL28 | ENSG00000086504.18 | transcript | ENST00000199706.13 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
ULK4_chr3_41241599_41967103 | 41559361 | C | CATGATTT others(2066): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 | 1 | 57 | 0.0175 | 2073 | c.322 others(2092): Show |
ULK4 | ENSG00000168038.11 | transcript | ENST00000301831.9 | protein_coding | 32/36 | chr3 | TogoVar | |||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2067): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0178 | 1 | 44 | 0.0227 | 2074 | c.108 others(2091): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | |||||||
ANKRD11_chr16_89262630_89495561 | 89398296 | G | GAGGCTGA others(2067): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0024 | a0001c0024t0001 | a0001c0024t0001g0269 | 1 | 308 | 0.0032 | 2074 | c.-60 others(2093): Show |
ANKRD11 | ENSG00000167522.17 | transcript | ENST00000301030.10 | protein_coding | 2/12 | chr16 | TogoVar |