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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SMOC1_chr14_69874416_70037366 | 69965404 | T | TAATAATA others(8): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02015.hp2 NA18989.hp1 |
a0001a0003 | a0001c0002a0003c0008 | a0001c0002t0002a0003c0008t0002 | a0001c0002t0002g0151 a0001c0002t0002g0244 a0003c0008t0002g0251 |
3 | 229 | 0.0131 | 15 | c.379 others(34): Show |
SMOC1 | ENSG00000198732.11 | transcript | ENST00000361956.8 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SMOC2_chr6_168436184_168672992 | 168523079 | A | ATTCTTTT others(8): Show |
intron_variant | MODIFIER | HG03225.hp2 NA21309.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0008 | a0001c0001t0001g0125 a0001c0002t0008g0045 |
2 | 30 | 0.0667 | 15 | c.257 others(32): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMOX_chr20_4143828_4192727 | 4168883 | C | CTATTTTA others(8): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0166 | 1 | 66 | 0.0152 | 15 | c.-26 others(32): Show |
SMOX | ENSG00000088826.18 | transcript | ENST00000305958.9 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SMO_chr7_129183633_129218545 | 129193781 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01261.hp1 NA18942.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0013 a0001c0001t0001g0037 a0001c0001t0001g0146 others(2): Show |
5 | 372 | 0.0134 | 15 | c.331 others(32): Show |
SMO | ENSG00000128602.11 | transcript | ENST00000249373.8 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
SMO_chr7_129183633_129218545 | 129193783 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG04184.hp2 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0029 | a0001c0001t0001g0173 a0001c0001t0029g0193 |
2 | 352 | 0.0057 | 15 | c.331 others(32): Show |
SMO | ENSG00000128602.11 | transcript | ENST00000249373.8 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
SMO_chr7_129183633_129218545 | 129193785 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0003 | 1 | 228 | 0.0044 | 15 | c.331 others(32): Show |
SMO | ENSG00000128602.11 | transcript | ENST00000249373.8 | protein_coding | 1/11 | chr7 | TogoVar | |||||||
SMPD2_chr6_109435724_109448919 | 109441300 | C | CCCCAGCG others(8): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0012 | 1 | 435 | 0.0023 | 15 | c.51- others(26): Show |
SMPD2 | ENSG00000135587.9 | transcript | ENST00000258052.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SMPD4_chr2_130146408_130186602 | 130170458 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(66): Show |
a0001a0003 | a0001c0002a0001c0004a0001c0005others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(3): Show | a0001c0002t0002g0002 a0001c0002t0002g0004 a0001c0002t0002g0015 others(46): Show |
69 | 210 | 0.3286 | 15 | c.659 others(32): Show |
SMPD4 | ENSG00000136699.20 | transcript | ENST00000680298.1 | protein_coding | 8/19 | chr2 | TogoVar | |||||||
SMPD4_chr2_130146408_130186602 | 130170458 | C | CAGAAAAA others(8): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0166 | 1 | 142 | 0.0070 | 15 | c.659 others(32): Show |
SMPD4 | ENSG00000136699.20 | transcript | ENST00000680298.1 | protein_coding | 8/19 | chr2 | TogoVar | |||||||
SMS_chrX_21935709_21999837 | 21944522 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0010 | 1 | 157 | 0.0064 | 15 | c.49+ others(30): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21948439 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0212 | 1 | 91 | 0.0110 | 15 | c.49+ others(30): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SMS_chrX_21935709_21999837 | 21988662 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 4 | 0.2500 | 15 | c.945 others(32): Show |
SMS | ENSG00000102172.16 | transcript | ENST00000404933.7 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SMU1_chr9_33036765_33081674 | 33037466 | G | GAGCTCAG others(8): Show |
downstream_gene_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0293 | 1 | 416 | 0.0024 | 15 | c.*98 others(26): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 4298 | chr9 | TogoVar | |||||||
SMU1_chr9_33036765_33081674 | 33066505 | T | TAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01928.hp1 HG01993.hp2 others(8): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0006a0001c0002t0014a0001c0002t0021others(3): Show | a0001c0002t0006g0126 a0001c0002t0006g0129 a0001c0002t0006g0130 others(8): Show |
11 | 14 | 0.7857 | 15 | c.501 others(32): Show |
SMU1 | ENSG00000122692.9 | transcript | ENST00000397149.4 | protein_coding | 4/11 | chr9 | TogoVar | |||||||
SMUG1_chr12_54175366_54193985 | 54188267 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG02886.hp1 HG02895.hp1 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0023 | 4 | 191 | 0.0209 | 15 | c.-10 others(32): Show |
SMUG1 | ENSG00000123415.16 | transcript | ENST00000682136.1 | protein_coding | 1/3 | chr12 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64566561 | G | GTTTGTTT others(8): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0045 | 1 | 42 | 0.0238 | 15 | c.101 others(34): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 10/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64566561 | G | GTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01256.hp2 HG02451.hp1 HG03490.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 a0001c0001t0001g0074 a0001c0001t0001g0081 others(1): Show |
4 | 45 | 0.0889 | 15 | c.101 others(34): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 10/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64631281 | G | GGAGAGAG others(8): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 67 | 0.0149 | 15 | c.53- others(32): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 1/18 | chr17 | TogoVar | |||||||
SMURF2_chr17_64537282_64667307 | 64665973 | T | TTTTTATT others(8): Show |
upstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp1 others(42): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0001g0024 a0001c0001t0001g0039 a0001c0001t0001g0040 others(42): Show |
45 | 83 | 0.5422 | 15 | c.-40 others(26): Show |
SMURF2 | ENSG00000108854.16 | transcript | ENST00000262435.14 | protein_coding | 3667 | chr17 | TogoVar | |||||||
SMYD1_chr2_88062825_88118384 | 88065222 | C | CCTCCCCT others(8): Show |
upstream_gene_variant | MODIFIER | NA18972.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139 | 1 | 284 | 0.0035 | 15 | c.-26 others(26): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 2602 | chr2 | TogoVar | |||||||
SMYD1_chr2_88062825_88118384 | 88065257 | C | CCCCCTCC others(8): Show |
upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0298 | 1 | 322 | 0.0031 | 15 | c.-26 others(26): Show |
SMYD1 | ENSG00000115593.15 | transcript | ENST00000419482.7 | protein_coding | 2567 | chr2 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245765078 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 148 | 0.0068 | 15 | c.107 others(32): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245797828 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA19088.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 73 | 0.0137 | 15 | c.107 others(36): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245833073 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00733.hp2 others(13): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(4): Show | a0001c0001t0001g0006 a0001c0001t0001g0019 a0001c0001t0001g0031 others(13): Show |
16 | 85 | 0.1882 | 15 | c.107 others(36): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 245833073 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 70 | 0.0143 | 15 | c.107 others(36): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 10/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246125079 | A | ACACACAC others(8): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0147 | 1 | 93 | 0.0108 | 15 | c.532 others(36): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246282305 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0129 | 1 | 8 | 0.1250 | 15 | c.531 others(34): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 5/11 | chr1 | TogoVar | |||||||
SMYD3_chr1_245744347_246512279 | 246507324 | A | AGGGGCGG others(8): Show |
upstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012 | 1 | 45 | 0.0222 | 15 | c.-10 others(24): Show |
SMYD3 | ENSG00000185420.19 | transcript | ENST00000490107.6 | protein_coding | 46 | chr1 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1779479 | A | AAAAACAA others(8): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 NA19080.hp1 |
a0002a0004 | a0002c0002a0004c0007 | a0002c0002t0003a0004c0007t0003 | a0002c0002t0003g0083 a0004c0007t0003g0219 |
2 | 106 | 0.0189 | 15 | c.*18 others(26): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 5 | chr17 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1785763 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02965.hp2 |
a0016a0017 | a0016c0017a0017c0020 | a0016c0017t0023a0017c0020t0002 | a0016c0017t0023g0372 a0017c0020t0002g0342 |
2 | 383 | 0.0052 | 15 | c.188 others(34): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 7/10 | chr17 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1785767 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02647.hp2 HG02965.hp1 others(6): Show |
a0004 | a0004c0010a0004c0015 | a0004c0010t0010a0004c0010t0025a0004c0015t0022 | a0004c0010t0010g0013 a0004c0010t0010g0014 a0004c0010t0010g0016 others(6): Show |
9 | 383 | 0.0235 | 15 | c.188 others(34): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 7/10 | chr17 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1785768 | A | AAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0245 | 1 | 388 | 0.0026 | 15 | c.188 others(34): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 7/10 | chr17 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1794105 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0022 | a0022c0037 | a0022c0037t0004 | a0022c0037t0004g0038 | 1 | 79 | 0.0127 | 15 | c.153 others(34): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 5/10 | chr17 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1794105 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01975.hp1 HG03209.hp1 NA20752.hp1 |
a0003a0011 | a0003c0003a0011c0013 | a0003c0003t0004a0011c0013t0012 | a0003c0003t0004g0002 a0003c0003t0004g0075 a0011c0013t0012g0059 |
3 | 81 | 0.0370 | 15 | c.153 others(34): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 5/10 | chr17 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1794105 | A | ATATATAT others(8): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01261.hp2 HG03098.hp2 others(2): Show |
a0003a0008a0011others(2): Show | a0003c0003a0008c0008a0011c0013others(2): Show | a0003c0003t0004a0008c0008t0002a0011c0013t0015others(2): Show | a0003c0003t0004g0062 a0008c0008t0002g0340 a0011c0013t0015g0052 others(2): Show |
5 | 83 | 0.0602 | 15 | c.153 others(34): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 5/10 | chr17 | TogoVar | |||||||
SMYD4_chr17_1774485_1834902 | 1794105 | A | ATATATTT others(8): Show |
intron_variant | MODIFIER | HG02135.hp2 HG03239.hp2 |
a0003a0008 | a0003c0003a0008c0008 | a0003c0003t0004a0008c0008t0002 | a0003c0003t0004g0070 a0008c0008t0002g0349 |
2 | 80 | 0.0250 | 15 | c.153 others(34): Show |
SMYD4 | ENSG00000186532.12 | transcript | ENST00000305513.12 | protein_coding | 5/10 | chr17 | TogoVar | |||||||
SNAI1_chr20_49977980_49993886 | 49991714 | C | CAAAAAAA others(8): Show |
downstream_gene_variant | MODIFIER | NA18747.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0007 | 1 | 41 | 0.0244 | 15 | c.*36 others(26): Show |
SNAI1 | ENSG00000124216.4 | transcript | ENST00000244050.3 | protein_coding | 2829 | chr20 | TogoVar | |||||||
SNAI3_chr16_88672688_88691507 | 88682762 | A | ATTTTTTT others(8): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0094 | 1 | 48 | 0.0208 | 15 | c.77- others(30): Show |
SNAI3 | ENSG00000185669.6 | transcript | ENST00000332281.6 | protein_coding | 1/2 | chr16 | TogoVar | |||||||
SNAP25_chr20_10213830_10312418 | 10238905 | A | AAATAATA others(8): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01243.hp1 HG01884.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0273 a0001c0001t0001g0326 a0001c0001t0001g0328 others(4): Show |
7 | 277 | 0.0253 | 15 | c.-64 others(34): Show |
SNAP25 | ENSG00000132639.15 | transcript | ENST00000254976.7 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SNAP91_chr6_83547885_83714101 | 83556340 | G | GGAGAGGG others(8): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0226 | 1 | 211 | 0.0047 | 15 | c.263 others(30): Show |
SNAP91 | ENSG00000065609.15 | transcript | ENST00000369694.7 | protein_coding | 28/29 | chr6 | TogoVar | |||||||
SNAPC1_chr14_61757420_61801428 | 61762981 | C | CTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG03834.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0170 | 1 | 33 | 0.0303 | 15 | c.128 others(30): Show |
SNAPC1 | ENSG00000023608.5 | transcript | ENST00000216294.5 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SNAPC1_chr14_61757420_61801428 | 61797175 | A | ATTTTTTT others(8): Show |
downstream_gene_variant | MODIFIER | HG02698.hp1 HG03490.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0013 | a0001c0001t0004g0061 a0001c0001t0013g0106 |
2 | 179 | 0.0112 | 15 | c.*21 others(26): Show |
SNAPC1 | ENSG00000023608.5 | transcript | ENST00000216294.5 | protein_coding | 748 | chr14 | TogoVar | |||||||
SNCAIP_chr5_122307237_122469219 | 122351536 | C | CAAAAAAA others(8): Show |
intron_variant | MODIFIER | HG03831.hp2 HG06807.hp1 NA18747.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0069 a0001c0001t0001g0134 a0001c0001t0001g0153 others(2): Show |
5 | 28 | 0.1786 | 15 | c.-47 others(34): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SNCAIP_chr5_122307237_122469219 | 122359378 | T | TTTATTTA others(8): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 220 | 0.0045 | 15 | c.-46 others(34): Show |
SNCAIP | ENSG00000064692.20 | transcript | ENST00000261368.13 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SNCB_chr5_176615082_176635534 | 176622489 | C | CAACAAAA others(8): Show |
intron_variant | MODIFIER | HG01433.hp1 HG01515.hp1 HG01516.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0068 a0001c0001t0001g0073 a0001c0001t0001g0105 others(4): Show |
10 | 91 | 0.1099 | 15 | c.283 others(32): Show |
SNCB | ENSG00000074317.11 | transcript | ENST00000393693.7 | protein_coding | 4/5 | chr5 | TogoVar | |||||||
SND1_chr7_127647194_128097593 | 127922176 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01515.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 260 | 0.0038 | 15 | c.152 others(34): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 127922199 | T | TTTTTGTT others(8): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 | 1 | 116 | 0.0086 | 15 | c.152 others(34): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 127922199 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG02735.hp2 NA18954.hp1 NA18974.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0092 a0001c0001t0001g0122 a0001c0001t0001g0123 others(5): Show |
8 | 123 | 0.0650 | 15 | c.152 others(34): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SND1_chr7_127647194_128097593 | 127922199 | T | TTTTTTTT others(8): Show |
intron_variant | MODIFIER | HG01496.hp1 HG03098.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0175 |
3 | 118 | 0.0254 | 15 | c.152 others(34): Show |
SND1 | ENSG00000197157.11 | transcript | ENST00000354725.8 | protein_coding | 14/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SNED1_chr2_240993618_241100568 | 241024652 | C | CTTATTTT others(8): Show |
intron_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG01123.hp1 others(38): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0006others(20): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0003others(30): Show | a0001c0001t0001g0190 a0001c0001t0002g0252 a0001c0002t0003g0161 others(38): Show |
41 | 135 | 0.3037 | 15 | c.214 others(32): Show |
SNED1 | ENSG00000162804.15 | transcript | ENST00000310397.13 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |