regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC7A10_chr19_33203664_33230850 | 33215583 | ACCCCCAC others(41): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 410 | 0.0024 | -48 | c.356 others(63): Show |
SLC7A10 | ENSG00000130876.11 | transcript | ENST00000253188.8 | protein_coding | 2/10 | chr19 | TogoVar | ||||||
SLC7A5_chr16_87825023_87874507 | 87872857 | CCTTCCTT others(41): Show |
C | upstream_gene_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0374 | 1 | 390 | 0.0026 | -48 | c.-34 others(59): Show |
SLC7A5 | ENSG00000103257.9 | transcript | ENST00000261622.5 | protein_coding | 3351 | chr16 | TogoVar | ||||||
SLC9A2_chr2_102614553_102716355 | 102632091 | CACATATA others(41): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp2 HG02647.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0091a0001c0001t0001g0119a0001c0001t0001g0330others(5): Show | 8 | 344 | 0.0233 | -48 | c.289 others(67): Show |
SLC9A2 | ENSG00000115616.3 | transcript | ENST00000233969.3 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SLC9B2_chr4_103017253_103081761 | 103046651 | ATTTTGTG others(41): Show |
A | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0243 | 1 | 356 | 0.0028 | -48 | c.889 others(63): Show |
SLC9B2 | ENSG00000164038.16 | transcript | ENST00000394785.9 | protein_coding | 7/11 | chr4 | TogoVar | ||||||
SLC9C2_chr1_173495460_173608072 | 173526721 | AAAATTAA others(41): Show |
A | splice_region_variant others(1): Show |
LOW | HG01069.hp1 HG01192.hp1 HG01243.hp1 others(29): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0006a0001c0012others(4): Show | a0001c0001t0002a0001c0006t0002a0001c0012t0001others(4): Show | a0001c0001t0002g0291a0001c0001t0002g0298a0001c0006t0002g0073others(29): Show | 32 | 316 | 0.1013 | -48 | c.231 others(62): Show |
SLC9C2 | ENSG00000162753.13 | transcript | ENST00000367714.4 | protein_coding | 18/27 | chr1 | TogoVar | ||||||
SLIT3_chr5_168656740_169306139 | 169290020 | AATATGCT others(41): Show |
A | intron_variant | MODIFIER | NA18974.hp1 NA19056.hp2 |
a0002 | a0002c0030a0002c0062 | a0002c0030t0002a0002c0062t0030 | a0002c0030t0002g0033a0002c0062t0030g0032 | 2 | 132 | 0.0152 | -48 | c.197 others(67): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 1/35 | chr5 | TogoVar | ||||||
SLTM_chr15_58874050_58938679 | 58922512 | CGTATAAA others(41): Show |
C | intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 386 | 0.0026 | -48 | c.251 others(65): Show |
SLTM | ENSG00000137776.17 | transcript | ENST00000380516.7 | protein_coding | 2/20 | chr15 | TogoVar | ||||||
SMARCC1_chr3_47580269_47786893 | 47608801 | ATCATGTC others(41): Show |
A | intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0105 | 1 | 219 | 0.0046 | -48 | c.304 others(67): Show |
SMARCC1 | ENSG00000173473.11 | transcript | ENST00000254480.10 | protein_coding | 26/27 | chr3 | TogoVar | ||||||
SMIM10L1_chr12_11166194_11181016 | 11168259 | AGAAAGAA others(41): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01123.hp2 HG01975.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 16 | 397 | 0.0403 | -48 | c.-30 others(59): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2934 | chr12 | TogoVar | ||||||
SMIM10L1_chr12_11166194_11181016 | 11168267 | AGAAAGAA others(41): Show |
A | upstream_gene_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 397 | 0.0025 | -48 | c.-30 others(59): Show |
SMIM10L1 | ENSG00000256537.5 | transcript | ENST00000622602.2 | protein_coding | 2926 | chr12 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168592681 | GGGCATCT others(41): Show |
G | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 180 | 0.0056 | -48 | c.638 others(65): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168592732 | GGGCATCT others(41): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0069 | 1 | 180 | 0.0056 | -48 | c.638 others(65): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168593191 | GGGCATCT others(41): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG01081.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0001g0085a0001c0001t0001g0095a0001c0001t0001g0131others(20): Show | 23 | 180 | 0.1278 | -48 | c.638 others(65): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168593242 | GGGCGTCT others(41): Show |
G | intron_variant | MODIFIER | HG01496.hp2 HG02129.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(1): Show | a0001c0001t0001g0156a0001c0001t0004g0118a0001c0002t0002g0028others(3): Show | 6 | 180 | 0.0333 | -48 | c.638 others(65): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168593752 | GGGCATCT others(41): Show |
G | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 180 | 0.0056 | -48 | c.638 others(65): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168593803 | GGGCATCT others(41): Show |
G | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0069 | 1 | 180 | 0.0056 | -48 | c.638 others(65): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168594630 | GCATCTTT others(41): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0035 | 1 | 180 | 0.0056 | -48 | c.638 others(65): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | chr6 | TogoVar | ||||||
SMURF1_chr7_99022440_99149108 | 99063237 | TTATTTAT others(41): Show |
T | intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 264 | 0.0038 | -48 | c.56- others(63): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | ||||||
SMURF1_chr7_99022440_99149108 | 99063241 | TTATATAT others(41): Show |
T | intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 264 | 0.0038 | -48 | c.56- others(63): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245974989 | TAGGGAAA others(41): Show |
T | intron_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 150 | 0.0067 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245975085 | CAGGGAAA others(41): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG03130.hp1 NA18962.hp2 |
a0002 | a0002c0003a0002c0017 | a0002c0003t0002a0002c0017t0001 | a0002c0003t0002g0102a0002c0003t0002g0131a0002c0017t0001g0122 | 3 | 150 | 0.0200 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245975109 | TAGGGAAA others(41): Show |
T | intron_variant | MODIFIER | HG02886.hp2 HG02970.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0003a0002c0003t0001g0096 | 2 | 150 | 0.0133 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245975129 | AGCCTAGG others(41): Show |
A | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012 | 1 | 150 | 0.0067 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245975421 | CAGGGAAA others(41): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0144 | 1 | 150 | 0.0067 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245975445 | TAGGGAAA others(41): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0035 | 1 | 150 | 0.0067 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245975541 | CAGGGAAA others(41): Show |
C | intron_variant | MODIFIER | HG02027.hp2 HG02647.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0001 | a0001c0001t0002g0051a0002c0004t0001g0107 | 2 | 150 | 0.0133 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245975561 | AGCCTAGG others(41): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG03209.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0089a0002c0003t0001g0144 | 2 | 150 | 0.0133 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245975585 | AGCCTAGG others(41): Show |
A | intron_variant | MODIFIER | HG03098.hp1 NA19090.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0013a0001c0002t0002g0083 | 2 | 150 | 0.0133 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245975751 | CCGGCCCA others(41): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG03098.hp2 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0002 | a0001c0002t0001g0024a0002c0003t0002g0147 | 2 | 150 | 0.0133 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245975757 | CAGGGAAA others(41): Show |
C | intron_variant | MODIFIER | HG02056.hp2 HG02071.hp2 HG02559.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0081a0001c0001t0002g0087a0001c0002t0001g0009 | 3 | 150 | 0.0200 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245975867 | GTCTCCGG others(41): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG01081.hp1 HG01975.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002 | a0001c0001t0002g0030a0001c0002t0001g0016a0001c0002t0002g0037 | 3 | 150 | 0.0200 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245975901 | CAGGGAAA others(41): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01081.hp2 HG02056.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0002 | a0001c0001t0001g0005a0001c0001t0002g0087a0001c0001t0002g0092others(2): Show | 5 | 150 | 0.0333 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245975925 | TAGGGAAA others(41): Show |
T | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 | 1 | 150 | 0.0067 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245975993 | GGCCTAGG others(41): Show |
G | intron_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0103 | 1 | 150 | 0.0067 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245976069 | TAGGGAAA others(41): Show |
T | intron_variant | MODIFIER | HG02165.hp1 HG03831.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0059a0001c0002t0001g0062 | 2 | 150 | 0.0133 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245976257 | GGCCCAGG others(41): Show |
G | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 150 | 0.0067 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245976401 | AGCCCAGG others(41): Show |
A | intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0014 | a0001c0014t0002 | a0001c0014t0002g0091 | 1 | 150 | 0.0067 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245976473 | GGCCCAGG others(41): Show |
G | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0049 | 1 | 150 | 0.0067 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245976501 | CAGGGAAA others(41): Show |
C | intron_variant | MODIFIER | HG02922.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0095 | 1 | 150 | 0.0067 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245976592 | CAGCCCAG others(41): Show |
C | intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 150 | 0.0067 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245976713 | AGCCCAGG others(41): Show |
A | intron_variant | MODIFIER | HG02280.hp1 NA18963.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0005a0001c0009t0001g0002 | 2 | 150 | 0.0133 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245976736 | CAGCCCAG others(41): Show |
C | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0026 | 1 | 150 | 0.0067 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245976789 | CAGGGAAA others(41): Show |
C | intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0139 | 1 | 150 | 0.0067 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245976885 | CAGGGAAA others(41): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0147 | 1 | 150 | 0.0067 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245976957 | TAGGGAAA others(41): Show |
T | intron_variant | MODIFIER | HG00733.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0124 | 1 | 150 | 0.0067 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245976977 | GGCCCAGG others(41): Show |
G | intron_variant | MODIFIER | HG01975.hp2 HG02622.hp1 HG03017.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0021a0001c0001t0002g0080a0001c0002t0001g0016 | 3 | 150 | 0.0200 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245977001 | AGCCCAGG others(41): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG02109.hp2 HG02258.hp1 |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0001c0002t0002a0002c0005t0002 | a0001c0002t0001g0065a0001c0002t0002g0077a0002c0005t0002g0118 | 3 | 150 | 0.0200 | -48 | c.532 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 246233729 | ACTCCTCA others(41): Show |
A | intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 150 | 0.0067 | -48 | c.531 others(67): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | ||||||
SNAPC4_chr9_136370571_136405170 | 136403295 | CCCAGGGA others(41): Show |
C | upstream_gene_variant | MODIFIER | HG03491.hp2 HG03492.hp1 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0033a0001c0006t0001g0124 | 2 | 380 | 0.0053 | -48 | c.-32 others(59): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3126 | chr9 | TogoVar | ||||||
SNAPC4_chr9_136370571_136405170 | 136403416 | CGGGGAAG others(41): Show |
C | upstream_gene_variant | MODIFIER | HG02922.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006a0001c0001t0001g0090 | 2 | 380 | 0.0053 | -48 | c.-33 others(59): Show |
SNAPC4 | ENSG00000165684.6 | transcript | ENST00000684778.1 | protein_coding | 3247 | chr9 | TogoVar |