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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMG1_chr16_18799860_18931408 | 18887762 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02258.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0008a0001c0003t0006a0001c0003t0027others(3): Show | a0001c0001t0008g0219 a0001c0003t0006g0033 a0001c0003t0006g0043 others(5): Show |
8 | 25 | 0.3200 | -9 | c.822 others(26): Show |
SMG1 | ENSG00000157106.18 | transcript | ENST00000446231.7 | protein_coding | 6/62 | chr16 | TogoVar | |||||||
SMG5_chr1_156244224_156287825 | 156265244 | GGAAGTAA others(2): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00558.hp2 others(89): Show |
a0001a0003a0004 | a0001c0001a0003c0013a0004c0014 | a0001c0001t0001a0001c0001t0004a0003c0013t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0012 others(75): Show |
92 | 366 | 0.2514 | -9 | c.185 others(26): Show |
SMG5 | ENSG00000198952.8 | transcript | ENST00000361813.5 | protein_coding | 12/21 | chr1 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2230213 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00621.hp1 HG02015.hp2 HG02040.hp2 others(5): Show |
a0006 | a0006c0005a0006c0032 | a0006c0005t0004a0006c0005t0006a0006c0005t0007others(3): Show | a0006c0005t0004g0121 a0006c0005t0006g0116 a0006c0005t0007g0115 others(5): Show |
8 | 276 | 0.0290 | -9 | c.286 others(28): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 10/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2230328 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG02886.hp1 NA18942.hp1 NA18951.hp1 others(3): Show |
a0001a0002a0023 | a0001c0001a0002c0002a0023c0022 | a0001c0001t0001a0002c0002t0001a0002c0002t0023others(1): Show | a0001c0001t0001g0243 a0001c0001t0001g0253 a0001c0001t0001g0259 others(3): Show |
6 | 276 | 0.0217 | -9 | c.286 others(28): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 10/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2242356 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG01167.hp1 others(16): Show |
a0001a0006a0012others(3): Show | a0001c0001a0006c0005a0006c0025others(5): Show | a0001c0001t0001a0006c0005t0001a0006c0005t0004others(10): Show | a0001c0001t0001g0214 a0006c0005t0001g0111 a0006c0005t0004g0119 others(16): Show |
19 | 36 | 0.5278 | -9 | c.272 others(28): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 9/18 | chr17 | TogoVar | |||||||
SMG6_chr17_2054843_2308785 | 2277157 | ATTTATTT others(2): Show |
A | intron_variant | MODIFIER | NA18966.hp1 NA18979.hp1 NA18982.hp1 others(2): Show |
a0003a0022 | a0003c0003a0022c0018 | a0003c0003t0001a0003c0003t0002a0022c0018t0001 | a0003c0003t0001g0159 a0003c0003t0001g0160 a0003c0003t0002g0161 others(2): Show |
5 | 197 | 0.0254 | -9 | c.266 others(28): Show |
SMG6 | ENSG00000070366.14 | transcript | ENST00000263073.11 | protein_coding | 8/18 | chr17 | TogoVar | |||||||
SMG9_chr19_43722983_43759962 | 43735631 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG02015.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0003c0005t0037 | a0001c0001t0002g0009 a0001c0001t0002g0021 a0001c0001t0002g0069 others(1): Show |
8 | 318 | 0.0252 | -9 | c.996 others(26): Show |
SMG9 | ENSG00000105771.14 | transcript | ENST00000270066.11 | protein_coding | 9/13 | chr19 | TogoVar | |||||||
SMIM10_chrX_134985991_134997473 | 134986629 | TATTTATT others(2): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00741.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0000 a0001c0001t0004g0000 a0001c0001t0005g0000 others(4): Show |
45 | 320 | 0.1406 | -9 | c.-44 others(20): Show |
SMIM10 | ENSG00000184785.6 | transcript | ENST00000330288.6 | protein_coding | 4361 | chrX | TogoVar | |||||||
SMIM10_chrX_134985991_134997473 | 134986630 | ATTTATTT others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02970.hp1 HG03130.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0000 a0001c0001t0005g0000 |
3 | 277 | 0.0108 | -9 | c.-44 others(20): Show |
SMIM10 | ENSG00000184785.6 | transcript | ENST00000330288.6 | protein_coding | 4360 | chrX | TogoVar | |||||||
SMIM12_chr1_34845362_34864749 | 34849983 | CAAAAAAA others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01069.hp1 others(112): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008a0001c0001t0012others(68): Show | a0001c0001t0004g0004 a0001c0001t0004g0093 a0001c0001t0008g0007 others(79): Show |
115 | 117 | 0.9829 | -9 | c.*57 others(20): Show |
SMIM12 | ENSG00000163866.9 | transcript | ENST00000521580.3 | protein_coding | 378 | chr1 | TogoVar | |||||||
SMIM21_chr18_75404476_75432703 | 75426631 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG02055.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(1): Show | a0001c0001t0001g0091 a0001c0001t0001g0093 a0001c0001t0001g0094 others(5): Show |
9 | 26 | 0.3462 | -9 | c.129 others(24): Show |
SMIM21 | ENSG00000206026.7 | transcript | ENST00000579022.5 | protein_coding | 1/2 | chr18 | TogoVar | |||||||
SMIM31_chr4_164749131_164808795 | 164758801 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG02280.hp2 HG02897.hp2 HG03139.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0007 a0001c0001t0001g0116 a0001c0001t0002g0125 others(5): Show |
8 | 17 | 0.4706 | -9 | c.-26 others(26): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMIM31_chr4_164749131_164808795 | 164768240 | AAAAAAAA others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(156): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0212 a0001c0001t0001g0213 a0001c0001t0001g0215 others(155): Show |
159 | 362 | 0.4392 | -9 | c.-25 others(26): Show |
SMIM31 | ENSG00000248771.5 | transcript | ENST00000507311.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SMIM35_chr11_117998634_118091963 | 118036764 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01891.hp2 HG02630.hp1 others(11): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0003g0169 a0001c0001t0003g0170 a0001c0001t0003g0176 others(11): Show |
14 | 406 | 0.0345 | -9 | c.8-2 others(24): Show |
SMIM35 | ENSG00000255274.10 | transcript | ENST00000689828.1 | protein_coding | 1/4 | chr11 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55456116 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02572.hp2 HG02922.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0233 a0001c0001t0002g0234 a0001c0001t0002g0261 others(6): Show |
9 | 165 | 0.0545 | -9 | c.*53 others(28): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 4/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55488897 | CCATCATC others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(216): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0007 a0001c0001t0001g0012 a0001c0001t0001g0035 others(193): Show |
219 | 336 | 0.6518 | -9 | c.*17 others(28): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM36_chr17_55444856_55516452 | 55500795 | TTTTATAA others(2): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG01069.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0002g0235 a0001c0001t0002g0257 a0001c0001t0002g0259 others(31): Show |
39 | 338 | 0.1154 | -9 | c.*17 others(30): Show |
SMIM36 | ENSG00000261873.3 | transcript | ENST00000636752.2 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
SMIM42_chr1_158122287_158133301 | 158125365 | TTTTGTTT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00609.hp1 HG00673.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0000 a0001c0001t0004g0000 |
29 | 403 | 0.0720 | -9 | c.*24 others(20): Show |
SMIM42 | ENSG00000288460.1 | transcript | ENST00000672824.1 | protein_coding | 1921 | chr1 | TogoVar | |||||||
SMIM46_chr19_14107324_14117476 | 14109958 | AAAAAAAA others(2): Show |
A | downstream_gene_variant | MODIFIER | HG00733.hp2 HG01069.hp1 HG01071.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 33 | 359 | 0.0919 | -9 | c.*23 others(20): Show |
SMIM46 | ENSG00000289762.1 | transcript | ENST00000699221.1 | protein_coding | 2365 | chr19 | TogoVar | |||||||
SMIM46_chr19_14107324_14117476 | 14109960 | AAAAAAAT others(2): Show |
A | downstream_gene_variant | MODIFIER | HG01255.hp2 HG01516.hp2 HG01928.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 10 | 365 | 0.0274 | -9 | c.*23 others(20): Show |
SMIM46 | ENSG00000289762.1 | transcript | ENST00000699221.1 | protein_coding | 2363 | chr19 | TogoVar | |||||||
SMKR1_chr7_129497531_129517918 | 129499488 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp2 HG01515.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0018 |
6 | 40 | 0.1500 | -9 | c.-33 others(20): Show |
SMKR1 | ENSG00000240204.3 | transcript | ENST00000462322.3 | protein_coding | 3042 | chr7 | TogoVar | |||||||
SMKR1_chr7_129497531_129517918 | 129500794 | AAAAGAAA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG02074.hp1 HG02602.hp2 HG03710.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 8 | 419 | 0.0191 | -9 | c.-20 others(20): Show |
SMKR1 | ENSG00000240204.3 | transcript | ENST00000462322.3 | protein_coding | 1736 | chr7 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168566479 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG01081.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(6): Show | a0001c0001t0001g0077 a0001c0001t0001g0127 a0001c0001t0001g0136 others(22): Show |
25 | 118 | 0.2119 | -9 | c.637 others(28): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMPD2_chr6_109435724_109448919 | 109437548 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01123.hp1 HG01243.hp1 HG01261.hp1 others(34): Show |
a0001a0004 | a0001c0002a0001c0004a0004c0005 | a0001c0002t0001a0001c0004t0001a0004c0005t0001 | a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0004t0001g0004 others(1): Show |
37 | 192 | 0.1927 | -9 | c.-35 others(20): Show |
SMPD2 | ENSG00000135587.9 | transcript | ENST00000258052.8 | protein_coding | 3175 | chr6 | TogoVar | |||||||
SMPD3_chr16_68353327_68453508 | 68374424 | TGGAGCAG others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02809.hp2 others(7): Show |
a0001 | a0001c0002a0001c0006a0001c0012 | a0001c0002t0008a0001c0002t0028a0001c0002t0031others(3): Show | a0001c0002t0008g0004 a0001c0002t0008g0148 a0001c0002t0008g0189 others(6): Show |
10 | 206 | 0.0485 | -9 | c.-20 others(28): Show |
SMPD3 | ENSG00000103056.12 | transcript | ENST00000219334.10 | protein_coding | 2/8 | chr16 | TogoVar | |||||||
SMPDL3A_chr6_122784258_122814720 | 122808658 | CTCCCTCC others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00597.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0030 a0001c0001t0001g0062 a0001c0001t0002g0011 others(23): Show |
39 | 435 | 0.0897 | -9 | c.104 others(26): Show |
SMPDL3A | ENSG00000172594.13 | transcript | ENST00000368440.5 | protein_coding | 7/7 | chr6 | TogoVar | |||||||
SMR3B_chr4_70378131_70395244 | 70381448 | AGAGGGGA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(301): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(68): Show |
304 | 460 | 0.6609 | -9 | c.-17 others(20): Show |
SMR3B | ENSG00000171201.12 | transcript | ENST00000304915.8 | protein_coding | 1682 | chr4 | TogoVar | |||||||
SMTNL2_chr17_4579529_4613319 | 4589938 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02451.hp2 others(6): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0006others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0004others(3): Show | a0001c0002t0001g0247 a0001c0002t0002g0200 a0001c0003t0004g0242 others(6): Show |
9 | 160 | 0.0563 | -9 | c.400 others(26): Show |
SMTNL2 | ENSG00000188176.12 | transcript | ENST00000389313.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SMUG1_chr12_54175366_54193985 | 54188295 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00642.hp2 HG01515.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0022 a0001c0001t0002g0046 a0001c0001t0002g0047 others(5): Show |
16 | 313 | 0.0511 | -9 | c.-10 others(26): Show |
SMUG1 | ENSG00000123415.16 | transcript | ENST00000682136.1 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
SMURF1_chr7_99022440_99149108 | 99119003 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00544.hp2 others(68): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0016 a0001c0001t0001g0027 a0001c0001t0001g0056 others(67): Show |
71 | 74 | 0.9595 | -9 | c.55+ others(26): Show |
SMURF1 | ENSG00000198742.10 | transcript | ENST00000361368.7 | protein_coding | 1/17 | chr7 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64573125 | AGAGGAGG others(2): Show |
A | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG01109.hp1 others(33): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(11): Show | a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0059 others(33): Show |
36 | 116 | 0.3103 | -9 | c.858 others(26): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 9/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64631282 | GAGAGAGA others(2): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG01261.hp1 HG02129.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0002t0025others(1): Show | a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0118 others(4): Show |
7 | 150 | 0.0467 | -9 | c.53- others(26): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64661886 | CGGCGGCG others(2): Show |
C | 5_prime_UTR_variant | MODIFIER | HG01099.hp2 HG01175.hp1 HG01884.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0006a0001c0001t0009others(4): Show | a0001c0001t0005g0151 a0001c0001t0005g0152 a0001c0001t0005g0160 others(20): Show |
23 | 172 | 0.1337 | -9 | c.-15 others(15): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/19 | 7 | chr17 | TogoVar | ||||||
SMYD3_chr1_245744347_246512279 | 245779570 | GCTCAAAT others(2): Show |
G | intron_variant | MODIFIER | HG02965.hp2 HG03471.hp1 |
a0001a0002 | a0001c0006a0002c0003 | a0001c0006t0001a0002c0003t0001 | a0001c0006t0001g0081 a0002c0003t0001g0127 |
2 | 150 | 0.0133 | -9 | c.107 others(30): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246063538 | TCCTTCCT others(2): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG01952.hp1 HG01981.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(4): Show | a0001c0001t0001g0080 a0001c0001t0001g0088 a0001c0001t0001g0089 others(7): Show |
10 | 150 | 0.0667 | -9 | c.532 others(30): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246086290 | TTTCACCT others(2): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp2 others(48): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(11): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0013 others(48): Show |
51 | 150 | 0.3400 | -9 | c.532 others(30): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246117810 | TACTTTAA others(2): Show |
T | intron_variant | MODIFIER | HG01433.hp2 HG02145.hp1 NA19240.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0001a0001c0006t0003 | a0001c0001t0001g0080 a0001c0006t0001g0071 a0001c0006t0003g0001 |
3 | 150 | 0.0200 | -9 | c.532 others(30): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246122247 | AAAAAAAT others(2): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00621.hp1 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(12): Show | a0001c0001t0001g0029 a0001c0001t0001g0032 a0001c0001t0001g0035 others(24): Show |
27 | 150 | 0.1800 | -9 | c.532 others(30): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246180759 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG01175.hp1 HG01243.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0088 a0001c0001t0002g0078 a0001c0001t0002g0091 others(14): Show |
17 | 24 | 0.7083 | -9 | c.531 others(30): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246288062 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00621.hp2 others(30): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0008 others(30): Show |
33 | 46 | 0.7174 | -9 | c.531 others(28): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1831898 | CTTTTTTT others(2): Show |
C | upstream_gene_variant | MODIFIER | HG02257.hp2 HG02965.hp1 HG03225.hp1 others(3): Show |
a0004 | a0004c0010 | a0004c0010t0010a0004c0010t0026 | a0004c0010t0010g0014 a0004c0010t0010g0016 a0004c0010t0010g0018 others(3): Show |
6 | 150 | 0.0400 | -9 | c.-21 others(20): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 1997 | chr17 | TogoVar | |||||||
SNAI1_chr20_49977980_49993886 | 49982927 | CCCCCCAC others(2): Show |
C | upstream_gene_variant | MODIFIER | HG01993.hp2 HG02083.hp1 HG02129.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0017a0002c0002t0018 | a0001c0001t0006g0007 a0001c0001t0006g0013 a0001c0001t0006g0024 others(2): Show |
17 | 438 | 0.0388 | -9 | c.-13 others(18): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 52 | chr20 | TogoVar | |||||||
SNAP47_chr1_227730435_227786226 | 227736502 | GTTTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG01169.hp2 HG02109.hp1 HG02280.hp1 others(8): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001a0003c0003t0005 | a0002c0002t0001g0070 a0002c0002t0001g0071 a0002c0002t0001g0072 others(8): Show |
11 | 36 | 0.3056 | -9 | c.-46 others(26): Show |
SNAP47 | ENSG00000143740.15 | transcript | ENST00000617596.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNAP47_chr1_227730435_227786226 | 227741999 | GTCTTTTT others(2): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG01099.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0204 a0001c0001t0001g0205 others(15): Show |
19 | 394 | 0.0482 | -9 | c.-45 others(26): Show |
SNAP47 | ENSG00000143740.15 | transcript | ENST00000617596.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNAP47_chr1_227730435_227786226 | 227755374 | GTTTTCTT others(2): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01884.hp1 HG01891.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 a0001c0001t0001g0170 a0001c0001t0001g0245 others(5): Show |
9 | 394 | 0.0228 | -9 | c.498 others(26): Show |
SNAP47 | ENSG00000143740.15 | transcript | ENST00000617596.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNAP47_chr1_227730435_227786226 | 227779293 | GCATGTGT others(2): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG03453.hp2 HG03516.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0065 a0002c0002t0001g0067 a0002c0002t0001g0068 |
3 | 394 | 0.0076 | -9 | c.111 others(28): Show |
SNAP47 | ENSG00000143740.15 | transcript | ENST00000617596.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SNAP91_chr6_83547885_83714101 | 83611863 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG01099.hp1 HG01099.hp2 others(16): Show |
a0001a0007 | a0001c0001a0007c0022 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0062 a0001c0001t0001g0067 a0001c0001t0001g0076 others(16): Show |
19 | 142 | 0.1338 | -9 | c.885 others(26): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 11/29 | chr6 | TogoVar | |||||||
SNCAIP_chr5_122307237_122469219 | 122406804 | CCTTTCTT others(2): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01433.hp1 HG01943.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(7): Show |
10 | 220 | 0.0455 | -9 | c.130 others(26): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 3/10 | chr5 | TogoVar | |||||||
SNCAIP_chr5_122307237_122469219 | 122448651 | TTTATATA others(2): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02970.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0064 a0001c0001t0003g0066 a0001c0001t0003g0067 |
3 | 220 | 0.0136 | -9 | c.159 others(28): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SNCA_chr4_89719099_89842161 | 89736210 | TAACGAAC others(2): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02258.hp2 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0017a0001c0001t0031others(1): Show | a0001c0001t0012g0242 a0001c0001t0012g0248 a0001c0001t0012g0256 others(5): Show |
8 | 338 | 0.0237 | -9 | c.307 others(26): Show |
SNCA | ENSG00000145335.17 | transcript | ENST00000394991.8 | protein_coding | 4/5 | chr4 | TogoVar |