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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RYR2_chr1_237037184_237838988 | 237148525 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01496.hp2 |
a0001a0002 | a0001c0003a0002c0024 | a0001c0003t0003a0002c0024t0005 | a0001c0003t0003g0084 a0002c0024t0005g0013 |
2 | 100 | 0.0200 | 11 | c.48+ others(30): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | chr1 | TogoVar | |||||||
RYR2_chr1_237037184_237838988 | 237230927 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00408.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0004a0001c0002t0001a0001c0002t0009others(17): Show | a0001c0001t0004g0036 a0001c0002t0001g0075 a0001c0002t0009g0021 others(18): Show |
21 | 100 | 0.2100 | 11 | c.49- others(28): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237262245 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG00741.hp1 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0036others(4): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0015others(8): Show | a0001c0001t0004g0036 a0001c0001t0007g0082 a0001c0001t0015g0069 others(8): Show |
11 | 100 | 0.1100 | 11 | c.49- others(26): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 1/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237447773 | G | GTCTCTCT others(4): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02451.hp1 HG02451.hp2 others(7): Show |
a0001a0002a0005 | a0001c0004a0001c0005a0001c0007others(7): Show | a0001c0004t0004a0001c0005t0012a0001c0007t0016others(7): Show | a0001c0004t0004g0009 a0001c0005t0012g0004 a0001c0007t0016g0042 others(7): Show |
10 | 100 | 0.1000 | 11 | c.129 others(30): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 14/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237594886 | G | GTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0005 | a0001c0005t0034 | a0001c0005t0034g0028 | 1 | 100 | 0.0100 | 11 | c.443 others(28): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 33/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237594894 | T | TTTTGTTT others(4): Show |
intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0061 | 1 | 100 | 0.0100 | 11 | c.443 others(28): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 33/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR2_chr1_237037184_237838988 | 237631613 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02486.hp1 HG02559.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0008a0001c0010others(1): Show | a0001c0001t0007a0001c0008t0027a0001c0010t0004others(2): Show | a0001c0001t0007g0011 a0001c0008t0027g0081 a0001c0010t0004g0097 others(2): Show |
5 | 100 | 0.0500 | 11 | c.655 others(27): Show |
RYR2 | ENSG00000198626.18 | transcript | ENST00000366574.7 | protein_coding | 42/104 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33382319 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03225.hp1 HG03471.hp2 |
a0002a0005a0009 | a0002c0080a0005c0022a0009c0055 | a0002c0080t0002a0005c0022t0002a0009c0055t0005 | a0002c0080t0002g0060 a0005c0022t0002g0147 a0009c0055t0005g0061 |
3 | 154 | 0.0195 | 11 | c.51+ others(28): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33450087 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02622.hp2 HG02630.hp2 HG02809.hp1 others(6): Show |
a0001a0002a0003others(4): Show | a0001c0047a0001c0058a0002c0087others(6): Show | a0001c0047t0001a0001c0058t0002a0002c0087t0001others(6): Show | a0001c0047t0001g0135 a0001c0058t0002g0073 a0002c0087t0001g0039 others(6): Show |
9 | 154 | 0.0584 | 11 | c.52- others(28): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33460940 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0040 | a0040c0038 | a0040c0038t0008 | a0040c0038t0008g0016 | 1 | 154 | 0.0065 | 11 | c.52- others(28): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 1/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33725976 | C | CCCCCCGC others(4): Show |
intron_variant | MODIFIER | HG01106.hp1 NA20300.hp1 |
a0007a0013 | a0007c0026a0013c0124 | a0007c0026t0002a0013c0124t0003 | a0007c0026t0002g0108 a0013c0124t0003g0047 |
2 | 154 | 0.0130 | 11 | c.691 others(28): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 45/103 | chr15 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33763892 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02145.hp1 HG02145.hp2 others(4): Show |
a0001a0002a0003others(4): Show | a0001c0037a0002c0092a0003c0012others(4): Show | a0001c0037t0003a0002c0092t0002a0003c0012t0003others(4): Show | a0001c0037t0003g0089 a0002c0092t0002g0144 a0003c0012t0003g0064 others(4): Show |
7 | 154 | 0.0455 | 11 | c.870 others(30): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 60/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33789658 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0046 | a0001c0046t0011 | a0001c0046t0011g0065 | 1 | 154 | 0.0065 | 11 | c.983 others(30): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 67/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
RYR3_chr15_33305967_33871102 | 33789659 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0002 | a0002c0090 | a0002c0090t0001 | a0002c0090t0001g0076 | 1 | 154 | 0.0065 | 11 | c.983 others(30): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 67/103 | chr15 | TogoVar | |||||||
RYR3_chr15_33305967_33871102 | 33811621 | T | TTACAAAG others(4): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00323.hp2 others(118): Show |
a0001a0002a0003others(46): Show | a0001c0001a0001c0002a0001c0003others(102): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(107): Show | a0001c0001t0001g0096 a0001c0001t0001g0140 a0001c0001t0005g0008 others(118): Show |
121 | 154 | 0.7857 | 11 | c.102 others(30): Show |
RYR3 | ENSG00000198838.15 | transcript | ENST00000634891.2 | protein_coding | 72/103 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
S100A2_chr1_153556108_153570844 | 153564854 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02004.hp1 HG02055.hp1 HG02622.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0058 a0001c0001t0001g0071 a0001c0001t0001g0072 others(4): Show |
7 | 370 | 0.0189 | 11 | c.-11 others(26): Show |
S100A2 | ENSG00000196754.13 | transcript | ENST00000368708.9 | protein_coding | 1/2 | chr1 | TogoVar | |||||||
S100A7_chr1_153452744_153465651 | 153461437 | C | CCCCCCCC others(4): Show |
upstream_gene_variant | MODIFIER | HG01109.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 2 | 420 | 0.0048 | 11 | c.-84 others(20): Show |
S100A7 | ENSG00000143556.9 | transcript | ENST00000368723.4 | protein_coding | 787 | chr1 | TogoVar | |||||||
S100B_chr21_46593604_46610082 | 46603727 | T | TAGATGTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(322): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(158): Show |
325 | 452 | 0.7190 | 11 | c.-2+ others(26): Show |
S100B | ENSG00000160307.10 | transcript | ENST00000291700.9 | protein_coding | 1/2 | chr21 | TogoVar | |||||||
S100G_chrX_16645158_16659670 | 16647255 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 348 | 0.0029 | 11 | c.-29 others(22): Show |
S100G | ENSG00000169906.5 | transcript | ENST00000380200.3 | protein_coding | 2902 | chrX | TogoVar | |||||||
S100P_chr4_6688878_6702170 | 6698759 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG03209.hp1 NA20129.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 | 4 | 482 | 0.0083 | 11 | c.*17 others(22): Show |
S100P | ENSG00000163993.7 | transcript | ENST00000296370.4 | protein_coding | 1590 | chr4 | TogoVar | |||||||
S100Z_chr5_76845014_76926650 | 76859768 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00609.hp1 others(63): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0103 a0001c0001t0001g0104 a0001c0001t0001g0105 others(61): Show |
66 | 348 | 0.1897 | 11 | c.-17 others(30): Show |
S100Z | ENSG00000171643.14 | transcript | ENST00000317593.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
S1PR2_chr19_10216433_10236331 | 10218876 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(130): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(72): Show |
133 | 400 | 0.3325 | 11 | c.*49 others(22): Show |
S1PR2 | ENSG00000267534.4 | transcript | ENST00000646641.1 | protein_coding | 2556 | chr19 | TogoVar | |||||||
S1PR2_chr19_10216433_10236331 | 10234312 | C | CCTGACCT others(4): Show |
upstream_gene_variant | MODIFIER | NA18940.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 400 | 0.0025 | 11 | c.-31 others(22): Show |
S1PR2 | ENSG00000267534.4 | transcript | ENST00000646641.1 | protein_coding | 2982 | chr19 | TogoVar | |||||||
S1PR3_chr9_88986468_89010155 | 88993066 | G | GTGCCATT others(4): Show |
intron_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0110 | 1 | 402 | 0.0025 | 11 | c.-14 others(30): Show |
S1PR3 | ENSG00000213694.7 | transcript | ENST00000358157.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SAA1_chr11_18261264_18274967 | 18268831 | T | TAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01433.hp2 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0031 | 2 | 442 | 0.0045 | 11 | c.92- others(24): Show |
SAA1 | ENSG00000173432.13 | transcript | ENST00000356524.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SAA2_chr11_18240240_18253668 | 18251974 | C | CCTTCCTT others(4): Show |
upstream_gene_variant | MODIFIER | HG01978.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 474 | 0.0021 | 11 | c.-33 others(22): Show |
SAA2 | ENSG00000134339.9 | transcript | ENST00000256733.9 | protein_coding | 3307 | chr11 | TogoVar | |||||||
SAC3D1_chr11_65036210_65049828 | 65039029 | C | CTTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0015 | 1 | 352 | 0.0028 | 11 | c.-22 others(22): Show |
SAC3D1 | ENSG00000168061.17 | transcript | ENST00000652489.1 | protein_coding | 2180 | chr11 | TogoVar | |||||||
SACM1L_chr3_45684396_45750409 | 45686661 | A | ATTTTTTT others(4): Show |
upstream_gene_variant | MODIFIER | HG02630.hp2 HG03209.hp1 |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0027 | 2 | 354 | 0.0057 | 11 | c.-28 others(22): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 2734 | chr3 | TogoVar | |||||||
SACM1L_chr3_45684396_45750409 | 45686663 | A | ATATATAT others(4): Show |
upstream_gene_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0001 | a0002c0001t0014 | a0002c0001t0014g0048 | 1 | 354 | 0.0028 | 11 | c.-28 others(22): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 2732 | chr3 | TogoVar | |||||||
SACM1L_chr3_45684396_45750409 | 45697269 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0002 | a0002c0001 | a0002c0001t0014 | a0002c0001t0014g0048 | 1 | 354 | 0.0028 | 11 | c.33- others(26): Show |
SACM1L | ENSG00000211456.14 | transcript | ENST00000389061.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SACS_chr13_23323830_23438702 | 23399019 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01123.hp1 HG02622.hp1 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0002a0002c0001a0003c0005others(2): Show | a0001c0002t0028a0002c0001t0001a0002c0001t0004others(5): Show | a0001c0002t0028g0028 a0002c0001t0001g0038 a0002c0001t0004g0229 others(8): Show |
11 | 378 | 0.0291 | 11 | c.20+ others(28): Show |
SACS | ENSG00000151835.17 | transcript | ENST00000382292.9 | protein_coding | 2/9 | chr13 | TogoVar | |||||||
SACS_chr13_23323830_23438702 | 23409040 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG00741.hp2 others(29): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0003a0001c0006others(7): Show | a0001c0002t0003a0001c0002t0009a0001c0002t0011others(11): Show | a0001c0002t0003g0063 a0001c0002t0003g0085 a0001c0002t0003g0087 others(29): Show |
32 | 378 | 0.0847 | 11 | c.20+ others(26): Show |
SACS | ENSG00000151835.17 | transcript | ENST00000382292.9 | protein_coding | 2/9 | chr13 | TogoVar | |||||||
SACS_chr13_23323830_23438702 | 23410073 | A | AAACTAGG others(4): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02280.hp2 HG03579.hp2 |
a0001 | a0001c0003a0001c0020 | a0001c0003t0001a0001c0020t0007 | a0001c0003t0001g0337 a0001c0020t0007g0019 a0001c0020t0007g0183 |
3 | 378 | 0.0079 | 11 | c.20+ others(26): Show |
SACS | ENSG00000151835.17 | transcript | ENST00000382292.9 | protein_coding | 2/9 | chr13 | TogoVar | |||||||
SAE1_chr19_47125835_47215636 | 47164639 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0282 a0001c0001t0001g0283 |
2 | 380 | 0.0053 | 11 | c.628 others(28): Show |
SAE1 | ENSG00000142230.13 | transcript | ENST00000270225.12 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SAE1_chr19_47125835_47215636 | 47182499 | G | GTGTGTGC others(4): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0008 | a0008c0009 | a0008c0009t0001 | a0008c0009t0001g0240 | 1 | 380 | 0.0026 | 11 | c.733 others(30): Show |
SAE1 | ENSG00000142230.13 | transcript | ENST00000270225.12 | protein_coding | 6/8 | chr19 | TogoVar | |||||||
SAGSIN1_chr7_6324411_6353967 | 6352698 | C | CTTTCTTT others(4): Show |
upstream_gene_variant | MODIFIER | NA19001.hp2 NA19060.hp2 NA19084.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0256 a0001c0001t0001g0257 a0001c0001t0001g0268 others(1): Show |
4 | 420 | 0.0095 | 11 | c.-39 others(22): Show |
SAGSIN1 | ENSG00000286075.3 | transcript | ENST00000578372.2 | protein_coding | 3732 | chr7 | TogoVar | |||||||
SAMD10_chr20_63969116_63984642 | 63970010 | A | ACGGGGAG others(4): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0054 | 1 | 342 | 0.0029 | 11 | c.*54 others(22): Show |
SAMD10 | ENSG00000130590.14 | transcript | ENST00000369886.8 | protein_coding | 4105 | chr20 | TogoVar | |||||||
SAMD10_chr20_63969116_63984642 | 63971411 | A | ATTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0002 | a0001c0002t0012 | a0001c0002t0012g0054 | 1 | 342 | 0.0029 | 11 | c.*40 others(22): Show |
SAMD10 | ENSG00000130590.14 | transcript | ENST00000369886.8 | protein_coding | 2704 | chr20 | TogoVar | |||||||
SAMD11_chr1_918923_949574 | 935426 | C | CGGAGCTC others(4): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01069.hp2 HG01099.hp2 others(112): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0004others(29): Show | a0001c0001t0012a0001c0001t0018a0001c0002t0002others(40): Show | a0001c0001t0012g0363 a0001c0001t0012g0364 a0001c0001t0012g0365 others(108): Show |
115 | 434 | 0.2650 | 11 | c.843 others(26): Show |
SAMD11 | ENSG00000187634.13 | transcript | ENST00000616016.5 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SAMD12_chr8_118372984_118626963 | 118543631 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02976.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0056 a0001c0001t0002g0183 a0001c0001t0003g0051 |
3 | 188 | 0.0160 | 11 | c.192 others(30): Show |
SAMD12 | ENSG00000177570.15 | transcript | ENST00000314727.9 | protein_coding | 2/3 | chr8 | TogoVar | |||||||
SAMD3_chr6_130139315_130227951 | 130180953 | C | CTTTCTTT others(4): Show |
intron_variant | MODIFIER | HG00597.hp2 HG03669.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 a0001c0001t0001g0187 |
2 | 338 | 0.0059 | 11 | c.654 others(28): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
SAMD3_chr6_130139315_130227951 | 130180953 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01261.hp1 NA19078.hp1 |
a0001a0010 | a0001c0001a0010c0005 | a0001c0001t0001a0010c0005t0001 | a0001c0001t0001g0060 a0001c0001t0001g0106 a0010c0005t0001g0183 |
3 | 338 | 0.0089 | 11 | c.654 others(28): Show |
SAMD3 | ENSG00000164483.17 | transcript | ENST00000439090.7 | protein_coding | 7/11 | chr6 | TogoVar | |||||||
SAMD4A_chr14_54562128_54798312 | 54623483 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0074 | a0001c0001t0074g0193 | 1 | 262 | 0.0038 | 11 | c.196 others(30): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54626065 | C | CGCGCGCG others(4): Show |
intron_variant | MODIFIER | NA19082.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0248 | 1 | 262 | 0.0038 | 11 | c.196 others(30): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54675367 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02738.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0019a0001c0001t0063others(1): Show | a0001c0001t0001g0008 a0001c0001t0019g0062 a0001c0001t0063g0171 others(1): Show |
4 | 262 | 0.0153 | 11 | c.197 others(30): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54688931 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01891.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0069 | a0001c0001t0014g0009 a0001c0001t0069g0217 |
2 | 262 | 0.0076 | 11 | c.197 others(30): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54724012 | G | GGAAGGAA others(4): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0078 others(35): Show |
38 | 262 | 0.1450 | 11 | c.716 others(30): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54737561 | T | TTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02717.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024a0001c0001t0029 | a0001c0001t0001g0013 a0001c0001t0024g0159 a0001c0001t0024g0191 others(1): Show |
4 | 262 | 0.0153 | 11 | c.979 others(26): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 4/12 | chr14 | TogoVar | |||||||
SAMD4A_chr14_54562128_54798312 | 54739055 | C | CTTTTCTT others(4): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0165 | 1 | 262 | 0.0038 | 11 | c.979 others(28): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SAMD4A_chr14_54562128_54798312 | 54739055 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02647.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0024a0001c0001t0048 | a0001c0001t0024g0191 a0001c0001t0048g0003 |
2 | 262 | 0.0076 | 11 | c.979 others(28): Show |
SAMD4A | ENSG00000020577.14 | transcript | ENST00000554335.6 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |