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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRPF31_chr19_54110754_54136713 | 54133882 | T | TCTCTCTC others(1937): Show |
downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 219 | 0.0046 | 1944 | c.*24 others(1955): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2170 | chr19 | TogoVar | |||||||
RPTOR_chr17_80539838_80971368 | 80744847 | T | TCCTGGCT others(1937): Show |
intron_variant | MODIFIER | HG00323.hp2 HG06807.hp1 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0019a0001c0014t0002 | a0001c0001t0019g0056 a0001c0014t0002g0055 |
2 | 123 | 0.0163 | 1944 | c.655 others(1961): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
TMEM178B_chr7_141069064_141485380 | 141242373 | C | CTTTTTTT others(1937): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0019 | 1 | 78 | 0.0128 | 1944 | c.496 others(1963): Show |
TMEM178B | ENSG00000261115.7 | transcript | ENST00000565468.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1937): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0006 | 1 | 50 | 0.0200 | 1944 | c.*24 others(1955): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(1938): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0099 | 1 | 194 | 0.0052 | 1945 | c.300 others(1962): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(1938): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0038 | a0038c0047 | a0038c0047t0002 | a0038c0047t0002g0023 | 1 | 97 | 0.0103 | 1945 | c.101 others(1964): 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(1938): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02976.hp2 HG03041.hp1 |
a0011a0022 | a0011c0012a0022c0018 | a0011c0012t0002a0022c0018t0002 | a0011c0012t0002g0029 a0011c0012t0002g0030 a0022c0018t0002g0027 |
3 | 99 | 0.0303 | 1945 | c.101 others(1964): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185090 | C | CCCCTTCT others(1938): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0025 | a0025c0043 | a0025c0043t0003 | a0025c0043t0003g0014 | 1 | 147 | 0.0068 | 1945 | c.193 others(1964): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FOXRED1_chr11_126264154_126283126 | 126276308 | T | TGTGTGTG others(1938): Show |
intron_variant | MODIFIER | HG02280.hp1 HG03098.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 2 | 5 | 0.4000 | 1945 | c.972 others(1958): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GAS6_chr13_113815549_113869076 | 113824248 | A | AGGAGCAC others(1938): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0055 | 1 | 91 | 0.0110 | 1945 | c.147 others(1962): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 12/14 | chr13 | TogoVar | |||||||
KREMEN1_chr22_29068035_29151820 | 29120118 | G | GGGAGAGG others(1938): Show |
intron_variant | MODIFIER | HG02257.hp2 HG06807.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0035a0001c0001t0053a0001c0001t0054 | a0001c0001t0035g0294 a0001c0001t0053g0293 a0001c0001t0054g0129 |
3 | 328 | 0.0091 | 1945 | c.353 others(1962): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(1939): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0020 | a0002c0020t0001 | a0002c0020t0001g0056 | 1 | 50 | 0.0200 | 1946 | c.147 others(1963): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLEC17A_chr19_14578084_14617035 | 14595973 | A | ATGTTGTT others(1939): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0052 | 1 | 30 | 0.0333 | 1946 | c.445 others(1961): Show |
CLEC17A | ENSG00000187912.12 | transcript | ENST00000417570.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958284 | G | GCTATAAC others(1939): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0120 | 1 | 83 | 0.0120 | 1946 | c.724 others(1965): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
DMRTC1_chrX_72867025_72948837 | 72880587 | G | GTTTGCTT others(1939): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 2 | 0.5000 | 1946 | c.-94 others(1963): Show |
DMRTC1 | ENSG00000269502.6 | transcript | ENST00000615063.2 | protein_coding | 1/6 | chrX | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(1939): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0011 | a0011c0012 | a0011c0012t0002 | a0011c0012t0002g0031 | 1 | 97 | 0.0103 | 1946 | c.101 others(1965): 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(1939): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0022 | a0022c0018 | a0022c0018t0002 | a0022c0018t0002g0034 | 1 | 97 | 0.0103 | 1946 | c.101 others(1965): 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(1939): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0003 | a0003c0054 | a0003c0054t0002 | a0003c0054t0002g0063 | 1 | 97 | 0.0103 | 1946 | c.101 others(1965): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(1939): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0021 | 1 | 9 | 0.1111 | 1946 | c.642 others(1963): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
FOXK2_chr17_82514732_82609602 | 82586452 | G | GGGGGGAA others(1939): Show |
intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 297 | 0.0034 | 1946 | c.157 others(1963): 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(1939): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 4 | 0.2500 | 1946 | c.972 others(1959): 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(1939): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0049 | 2 | 5 | 0.4000 | 1946 | c.972 others(1959): Show |
FOXRED1 | ENSG00000110074.12 | transcript | ENST00000263578.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626062 | G | GGGGTCTC others(1939): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0143 | 1 | 270 | 0.0037 | 1946 | c.-5+ others(1959): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1939): Show |
intron_variant | MODIFIER | HG01358.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0156 | 1 | 15 | 0.0667 | 1946 | c.-5+ others(1959): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626075 | T | TGGGGTGA others(1939): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0158 | 1 | 15 | 0.0667 | 1946 | c.-5+ others(1959): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PIP5K1C_chr19_3625183_3705468 | 3649689 | G | GGGAGTTA others(1939): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0232 | 1 | 330 | 0.0030 | 1946 | c.112 others(1963): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
PRKAG2_chr7_151551127_151882115 | 151626784 | C | CCCTCCCT others(1939): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0143 | 1 | 232 | 0.0043 | 1946 | c.754 others(1963): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 5/15 | chr7 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TATACATA others(1939): Show |
upstream_gene_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 8 | 0.1250 | 1946 | c.-20 others(1957): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TTTATACA others(1939): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG01109.hp1 HG01243.hp1 others(14): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 17 | 24 | 0.7083 | 1946 | c.-20 others(1957): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TTTATACA others(1939): Show |
upstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 8 | 0.1250 | 1946 | c.-20 others(1957): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
PRR20G_chr3_127278783_127293046 | 127289915 | T | TTTATACA others(1939): Show |
upstream_gene_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 8 | 0.1250 | 1946 | c.-20 others(1957): Show |
PRR20G | ENSG00000239620.3 | transcript | ENST00000465482.3 | protein_coding | 1870 | chr3 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1940): Show |
intron_variant | MODIFIER | NA18944.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0263 | 1 | 76 | 0.0132 | 1947 | c.955 others(1964): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(1940): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0017 | 1 | 2 | 0.5000 | 1947 | c.-52 others(1968): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958124 | T | TATAACCA others(1940): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 207 | 0.0048 | 1947 | c.724 others(1966): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(1940): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 9 | 0.1111 | 1947 | c.642 others(1964): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(1940): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 | 1 | 9 | 0.1111 | 1947 | c.642 others(1964): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GPR35_chr2_240620480_240638159 | 240626087 | G | GTGACGGG others(1940): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0117 | 1 | 385 | 0.0026 | 1947 | c.-5+ others(1960): Show |
GPR35 | ENSG00000178623.13 | transcript | ENST00000407714.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
PRKAG2_chr7_151551127_151882115 | 151626784 | C | CCCTCCCT others(1940): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0211 | 1 | 232 | 0.0043 | 1947 | c.754 others(1964): Show |
PRKAG2 | ENSG00000106617.16 | transcript | ENST00000287878.9 | protein_coding | 5/15 | chr7 | TogoVar | |||||||
RTEL1_chr20_63653312_63701245 | 63693480 | T | TCCACCAC others(1940): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0015 | a0002c0015t0004 | a0002c0015t0004g0004 | 1 | 39 | 0.0256 | 1947 | c.299 others(1964): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TRIM13_chr13_49992042_50023467 | 50009118 | C | CGTAAAAT others(1940): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0085 | 1 | 388 | 0.0026 | 1947 | c.-6- others(1962): Show |
TRIM13 | ENSG00000204977.10 | transcript | ENST00000378182.4 | protein_coding | 1/1 | chr13 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933901 | T | TGAGGAGA others(1941): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0001 | a0002c0001t0035 | a0002c0001t0035g0014 | 1 | 131 | 0.0076 | 1948 | c.198 others(1963): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(1941): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0020 | a0020c0077 | a0020c0077t0002 | a0020c0077t0002g0163 | 1 | 97 | 0.0103 | 1948 | c.101 others(1967): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
DOCK1_chr10_126900428_127457516 | 126947654 | G | GGTGGTTG others(1941): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0033 | a0001c0033t0007 | a0001c0033t0007g0087 | 1 | 124 | 0.0081 | 1948 | c.47- others(1965): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(1941): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01070.hp1 others(28): Show |
a0001a0003a0005 | a0001c0002a0001c0005a0001c0014others(4): Show | a0001c0002t0001a0001c0005t0001a0001c0014t0001others(4): Show | a0001c0002t0001g0002 a0001c0002t0001g0003 a0001c0002t0001g0004 others(28): Show |
31 | 39 | 0.7949 | 1948 | c.642 others(1965): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(1941): Show |
intron_variant | MODIFIER | HG02965.hp1 NA18906.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0071 a0001c0004t0001g0139 |
2 | 10 | 0.2000 | 1948 | c.642 others(1965): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(1941): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0070 | 1 | 9 | 0.1111 | 1948 | c.642 others(1965): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137721354 | C | CCAGACTT others(1941): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0003 | a0003c0024 | a0003c0024t0001 | a0003c0024t0001g0074 | 1 | 9 | 0.1111 | 1948 | c.642 others(1965): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 3/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99927921 | G | GTGGTGGT others(1941): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0228 | 1 | 277 | 0.0036 | 1948 | c.190 others(1967): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
JAKMIP3_chr10_132060946_132189858 | 132173041 | C | CCCCCTCT others(1941): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0004 | a0004c0027 | a0004c0027t0001 | a0004c0027t0001g0066 | 1 | 95 | 0.0105 | 1948 | c.*11 others(1969): Show |
JAKMIP3 | ENSG00000188385.13 | transcript | ENST00000684848.1 | protein_coding | 23/23 | chr10 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(1941): Show |
intron_variant | MODIFIER | HG01433.hp1 | a0046 | a0046c0070 | a0046c0070t0001 | a0046c0070t0001g0099 | 1 | 34 | 0.0294 | 1948 | c.299 others(1963): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar |