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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GRIN2D_chr19_48388668_48449931 | 48392312 | A | AGTCCAGG others(30): Show |
upstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0179 | 1 | 364 | 0.0027 | 37 | c.-18 others(48): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 1355 | chr19 | TogoVar | |||||||
GRIN2D_chr19_48388668_48449931 | 48392320 | T | TCCCCAGC others(30): Show |
upstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0348 | 1 | 362 | 0.0028 | 37 | c.-18 others(48): Show |
GRIN2D | ENSG00000105464.4 | transcript | ENST00000263269.4 | protein_coding | 1347 | chr19 | TogoVar | |||||||
GRM8_chr7_126433598_127257941 | 126788409 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 84 | 0.0119 | 37 | c.115 others(58): Show |
GRM8 | ENSG00000179603.19 | transcript | ENST00000339582.7 | protein_coding | 6/10 | chr7 | TogoVar | |||||||
GRP_chr18_59215158_59235771 | 59234090 | A | ATACTATA others(30): Show |
downstream_gene_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 203 | 0.0049 | 37 | c.*36 others(48): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 3320 | chr18 | TogoVar | |||||||
GRP_chr18_59215158_59235771 | 59234090 | A | ATACTATA others(30): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02074.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0020 others(13): Show |
24 | 226 | 0.1062 | 37 | c.*36 others(48): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 3320 | chr18 | TogoVar | |||||||
GRP_chr18_59215158_59235771 | 59234244 | G | GTATATAT others(30): Show |
downstream_gene_variant | MODIFIER | NA18961.hp2 NA19054.hp1 NA19091.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 3 | 269 | 0.0112 | 37 | c.*37 others(48): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 3474 | chr18 | TogoVar | |||||||
GRP_chr18_59215158_59235771 | 59234557 | G | GTATATAT others(30): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0009 | 1 | 406 | 0.0025 | 37 | c.*40 others(48): Show |
GRP | ENSG00000134443.10 | transcript | ENST00000256857.7 | protein_coding | 3787 | chr18 | TogoVar | |||||||
GSC2_chr22_19141993_19155292 | 19154591 | C | CTCCCCTC others(30): Show |
upstream_gene_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 451 | 0.0022 | 37 | c.-43 others(48): Show |
GSC2 | ENSG00000063515.3 | transcript | ENST00000086933.3 | protein_coding | 4300 | chr22 | TogoVar | |||||||
GSE1_chr16_85608322_85681200 | 85653214 | T | TCCTCCCC others(30): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0077 | 1 | 175 | 0.0057 | 37 | c.427 others(54): Show |
GSE1 | ENSG00000131149.19 | transcript | ENST00000253458.12 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
GSG1L_chr16_27782528_28068714 | 27979733 | A | AGGAAGGA others(30): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0190 | 1 | 238 | 0.0042 | 37 | c.350 others(56): Show |
GSG1L | ENSG00000169181.13 | transcript | ENST00000447459.7 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
GTF2A1L_chr2_48612856_48684604 | 48614962 | G | GGGCAGAG others(30): Show |
upstream_gene_variant | MODIFIER | HG02683.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0204 | 1 | 342 | 0.0029 | 37 | c.-29 others(48): Show |
GTF2A1L | ENSG00000242441.8 | transcript | ENST00000403751.8 | protein_coding | 2893 | chr2 | TogoVar | |||||||
GTF2F2_chr13_45115510_45289893 | 45191224 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0205 | 1 | 62 | 0.0161 | 37 | c.305 others(56): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GTF2F2_chr13_45115510_45289893 | 45228283 | C | CTTTTTTT others(30): Show |
intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 101 | 0.0099 | 37 | c.386 others(56): Show |
GTF2F2 | ENSG00000188342.13 | transcript | ENST00000340473.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
GTF2I_chr7_74652718_74765692 | 74723428 | C | CCTTTTTT others(30): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 36 | 0.0278 | 37 | c.943 others(54): Show |
GTF2I | ENSG00000263001.8 | transcript | ENST00000573035.6 | protein_coding | 12/34 | chr7 | TogoVar | |||||||
GTF3C1_chr16_27455613_27554913 | 27553981 | A | AGAGAGGA others(30): Show |
upstream_gene_variant | MODIFIER | NA18941.hp1 NA18959.hp1 NA19075.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 a0001c0001t0001g0165 a0001c0001t0001g0169 |
3 | 218 | 0.0138 | 37 | c.-41 others(48): Show |
GTF3C1 | ENSG00000077235.18 | transcript | ENST00000356183.9 | protein_coding | 4069 | chr16 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106698119 | A | ATTTTTTT others(30): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03471.hp1 NA18906.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0014a0001c0005t0015 | a0001c0003t0014g0241 a0001c0003t0014g0245 a0001c0005t0015g0044 |
3 | 101 | 0.0297 | 37 | c.199 others(58): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 7/7 | chr11 | TogoVar | |||||||
GUCY1A2_chr11_106669019_107023476 | 106944215 | C | CAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02257.hp1 HG02293.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0007a0001c0001t0010others(2): Show | a0001c0001t0006g0043 a0001c0001t0007g0164 a0001c0001t0010g0105 others(2): Show |
5 | 64 | 0.0781 | 37 | c.488 others(54): Show |
GUCY1A2 | ENSG00000152402.11 | transcript | ENST00000526355.7 | protein_coding | 3/7 | chr11 | TogoVar | |||||||
GULP1_chr2_188286874_188600926 | 188591831 | T | TTTTAACA others(30): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0076 | 1 | 160 | 0.0063 | 37 | c.844 others(54): Show |
GULP1 | ENSG00000144366.17 | transcript | ENST00000409830.6 | protein_coding | 11/11 | chr2 | TogoVar | |||||||
GYPE_chr4_143865864_143910559 | 143904586 | A | AGTATGCT others(30): Show |
intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 396 | 0.0025 | 37 | c.37+ others(50): Show |
GYPE | ENSG00000197465.14 | transcript | ENST00000358615.9 | protein_coding | 1/3 | chr4 | TogoVar | |||||||
GZMM_chr19_539053_554922 | 540042 | C | CCCCCAGG others(30): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(154): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0003a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(75): Show |
157 | 256 | 0.6133 | 37 | c.-40 others(48): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 4010 | chr19 | TogoVar | |||||||
GZMM_chr19_539053_554922 | 540185 | G | GTGGCCAG others(30): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 299 | 0.0033 | 37 | c.-38 others(48): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 3867 | chr19 | TogoVar | |||||||
GZMM_chr19_539053_554922 | 540374 | G | GTGGCCAG others(30): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 | 1 | 347 | 0.0029 | 37 | c.-36 others(48): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 3678 | chr19 | TogoVar | |||||||
GZMM_chr19_539053_554922 | 540388 | C | CACGTTTA others(30): Show |
upstream_gene_variant | MODIFIER | NA19056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 238 | 0.0042 | 37 | c.-36 others(48): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 3664 | chr19 | TogoVar | |||||||
GZMM_chr19_539053_554922 | 540412 | G | GTGGCCAG others(30): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 230 | 0.0043 | 37 | c.-36 others(48): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 3640 | chr19 | TogoVar | |||||||
GZMM_chr19_539053_554922 | 540640 | G | GTGGCCAG others(30): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057 a0001c0001t0001g0062 |
2 | 211 | 0.0095 | 37 | c.-34 others(48): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 3412 | chr19 | TogoVar | |||||||
GZMM_chr19_539053_554922 | 540654 | C | CACGTTTA others(30): Show |
upstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 213 | 0.0047 | 37 | c.-34 others(48): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 3398 | chr19 | TogoVar | |||||||
GZMM_chr19_539053_554922 | 550762 | C | CGTCCCCA others(30): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01891.hp2 others(11): Show |
a0001a0003 | a0001c0001a0003c0010 | a0001c0001t0001a0001c0001t0003a0003c0010t0001 | a0001c0001t0001g0019 a0001c0001t0001g0057 a0001c0001t0001g0140 others(9): Show |
14 | 392 | 0.0357 | 37 | c.*97 others(46): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 841 | chr19 | TogoVar | |||||||
GZMM_chr19_539053_554922 | 550974 | T | TGTCCCCA others(30): Show |
downstream_gene_variant | MODIFIER | NA18962.hp2 NA18993.hp1 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0002a0002c0002t0001 | a0001c0003t0002g0224 a0002c0002t0001g0132 |
2 | 323 | 0.0062 | 37 | c.*11 others(48): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 1053 | chr19 | TogoVar | |||||||
GZMM_chr19_539053_554922 | 550988 | C | CCCCAGCA others(30): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00733.hp1 HG01099.hp2 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0014 a0001c0001t0001g0019 others(25): Show |
31 | 337 | 0.0920 | 37 | c.*11 others(48): Show |
GZMM | ENSG00000197540.8 | transcript | ENST00000264553.6 | protein_coding | 1067 | chr19 | TogoVar | |||||||
H1-1_chr6_26012032_26022787 | 26021338 | T | TAAAAAAA others(30): Show |
upstream_gene_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 394 | 0.0025 | 37 | c.-36 others(48): Show |
H1-1 | ENSG00000124610.5 | transcript | ENST00000244573.5 | protein_coding | 3552 | chr6 | TogoVar | |||||||
H3Y2_chr5_17485967_17497076 | 17493399 | T | TATATATA others(30): Show |
upstream_gene_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 1 | 395 | 0.0025 | 37 | c.-16 others(48): Show |
H3Y2 | ENSG00000268799.4 | transcript | ENST00000600799.3 | protein_coding | 1324 | chr5 | TogoVar | |||||||
H4C12_chr6_27826174_27836560 | 27832868 | A | ATTTTTTT others(30): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 264 | 0.0038 | 37 | c.-13 others(48): Show |
H4C12 | ENSG00000273542.2 | transcript | ENST00000611927.2 | protein_coding | 1309 | chr6 | TogoVar | |||||||
H4C14_chr1_149827657_149838052 | 149827865 | T | TTCTTTCT others(30): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 97 | 0.0103 | 37 | c.-48 others(48): Show |
H4C14 | ENSG00000270882.3 | transcript | ENST00000578186.3 | protein_coding | 4791 | chr1 | TogoVar | |||||||
HACD2_chr3_123486554_123590053 | 123530083 | A | ACATTAGT others(30): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0086 | 1 | 348 | 0.0029 | 37 | c.293 others(54): Show |
HACD2 | ENSG00000206527.10 | transcript | ENST00000383657.10 | protein_coding | 3/6 | chr3 | TogoVar | |||||||
HAS1_chr19_51708112_51728991 | 51726619 | C | CCTCAGAC others(30): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG01496.hp1 HG01884.hp1 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0087 others(21): Show |
29 | 462 | 0.0628 | 37 | c.-26 others(48): Show |
HAS1 | ENSG00000105509.11 | transcript | ENST00000540069.7 | protein_coding | 2629 | chr19 | TogoVar | |||||||
HAS1_chr19_51708112_51728991 | 51726797 | C | CCCTCCCT others(30): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG01496.hp1 HG01884.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0087 others(18): Show |
25 | 446 | 0.0561 | 37 | c.-28 others(48): Show |
HAS1 | ENSG00000105509.11 | transcript | ENST00000540069.7 | protein_coding | 2807 | chr19 | TogoVar | |||||||
HAS1_chr19_51708112_51728991 | 51726834 | G | GCCTCCCT others(30): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00621.hp2 HG00673.hp2 others(22): Show |
a0001a0013 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0084 a0001c0001t0001g0196 a0001c0001t0002g0012 others(15): Show |
25 | 445 | 0.0562 | 37 | c.-29 others(48): Show |
HAS1 | ENSG00000105509.11 | transcript | ENST00000540069.7 | protein_coding | 2844 | chr19 | TogoVar | |||||||
HAS1_chr19_51708112_51728991 | 51726967 | A | ACTCCATC others(30): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG01496.hp1 HG01884.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0087 others(18): Show |
25 | 321 | 0.0779 | 37 | c.-30 others(48): Show |
HAS1 | ENSG00000105509.11 | transcript | ENST00000540069.7 | protein_coding | 2977 | chr19 | TogoVar | |||||||
HAS1_chr19_51708112_51728991 | 51726975 | T | TCCTCCTC others(30): Show |
upstream_gene_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0152 | 1 | 295 | 0.0034 | 37 | c.-30 others(48): Show |
HAS1 | ENSG00000105509.11 | transcript | ENST00000540069.7 | protein_coding | 2985 | chr19 | TogoVar | |||||||
HAS1_chr19_51708112_51728991 | 51727004 | C | CCTCCATC others(30): Show |
upstream_gene_variant | MODIFIER | NA19083.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0112 | 1 | 233 | 0.0043 | 37 | c.-30 others(48): Show |
HAS1 | ENSG00000105509.11 | transcript | ENST00000540069.7 | protein_coding | 3014 | chr19 | TogoVar | |||||||
HAUS1_chr18_46099385_46133333 | 46112597 | A | AATGTGTA others(30): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02809.hp1 HG03540.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0020 a0001c0004t0001g0060 |
3 | 370 | 0.0081 | 37 | c.206 others(54): Show |
HAUS1 | ENSG00000152240.13 | transcript | ENST00000282058.11 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
HAUS2_chr15_42543838_42574994 | 42544838 | C | CTATATAT others(30): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0046 | 1 | 297 | 0.0034 | 37 | c.-40 others(48): Show |
HAUS2 | ENSG00000137814.12 | transcript | ENST00000260372.8 | protein_coding | 3999 | chr15 | TogoVar | |||||||
HBZ_chr16_147644_159503 | 154217 | C | CGGGGCGG others(30): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 432 | 0.0023 | 37 | c.301 others(50): Show |
HBZ | ENSG00000130656.6 | transcript | ENST00000252951.3 | protein_coding | 2/2 | chr16 | TogoVar | |||||||
HDDC2_chr6_125270350_125306967 | 125297501 | C | CTGCTGGC others(30): Show |
intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0067 | 1 | 372 | 0.0027 | 37 | c.309 others(54): Show |
HDDC2 | ENSG00000111906.18 | transcript | ENST00000398153.7 | protein_coding | 3/5 | chr6 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 36984215 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0020 | a0002c0020t0005 | a0002c0020t0005g0012 | 1 | 153 | 0.0065 | 37 | c.591 others(56): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 35/35 | chr2 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 36984215 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0040 | 1 | 153 | 0.0065 | 37 | c.591 others(56): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 35/35 | chr2 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 36984215 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0075 | 1 | 153 | 0.0065 | 37 | c.591 others(56): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 35/35 | chr2 | TogoVar | |||||||
HEATR5B_chr2_36975895_37089372 | 36984215 | A | AAAAAAAA others(30): Show |
intron_variant | MODIFIER | HG02922.hp1 NA19011.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0002 | a0001c0002t0001g0210 a0002c0003t0002g0189 |
2 | 154 | 0.0130 | 37 | c.591 others(56): Show |
HEATR5B | ENSG00000008869.12 | transcript | ENST00000233099.6 | protein_coding | 35/35 | chr2 | TogoVar | |||||||
HEATR6_chr17_60036008_60083921 | 60042366 | T | TGGCTGTG others(30): Show |
3_prime_UTR_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0135 | 1 | 210 | 0.0048 | 37 | c.*11 others(48): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 20/20 | 1196 | chr17 | TogoVar | ||||||
HEATR6_chr17_60036008_60083921 | 60042454 | T | TGTCAGCA others(30): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 177 | 0.0056 | 37 | c.*11 others(48): Show |
HEATR6 | ENSG00000068097.16 | transcript | ENST00000184956.11 | protein_coding | 20/20 | 1108 | chr17 | TogoVar |