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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SLC7A7_chr14_22768222_22820435 | 22792867 | A | AGAGAGAG others(10): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0270 | 1 | 39 | 0.0256 | 17 | c.500 others(36): Show |
SLC7A7 | ENSG00000155465.21 | transcript | ENST00000674313.1 | protein_coding | 2/9 | chr14 | TogoVar | |||||||
SLC8A1_chr2_40092270_40457090 | 40107279 | C | CAAAAAAA others(10): Show |
3_prime_UTR_variant | MODIFIER | HG02258.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0131a0001c0001t0171 | a0001c0001t0131g0082 a0001c0001t0171g0214 |
2 | 21 | 0.0952 | 17 | c.*79 others(28): Show |
SLC8A1 | ENSG00000183023.19 | transcript | ENST00000332839.9 | protein_coding | 11/11 | 7973 | chr2 | TogoVar | ||||||
SLC9A3_chr5_465456_529449 | 507166 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG01074.hp1 others(8): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0001c0021others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0008others(5): Show | a0001c0001t0001g0113 a0001c0001t0007g0033 a0001c0003t0008g0038 others(8): Show |
11 | 51 | 0.2157 | 17 | c.212 others(36): Show |
SLC9A3 | ENSG00000066230.12 | transcript | ENST00000264938.8 | protein_coding | 1/16 | chr5 | TogoVar | |||||||
SLC9A4_chr2_102468226_102538972 | 102524585 | T | TGTGTGTG others(10): Show |
intron_variant | MODIFIER | NA18978.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0084 | 1 | 375 | 0.0027 | 17 | c.181 others(34): Show |
SLC9A4 | ENSG00000180251.5 | transcript | ENST00000295269.5 | protein_coding | 9/11 | chr2 | TogoVar | |||||||
SLC9A5_chr16_67243979_67277191 | 67260354 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02055.hp1 HG02559.hp1 others(8): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0002a0001c0003t0002others(1): Show | a0001c0001t0002g0008 a0001c0001t0002g0057 a0001c0001t0002g0143 others(6): Show |
11 | 123 | 0.0894 | 17 | c.184 others(34): Show |
SLC9A5 | ENSG00000135740.17 | transcript | ENST00000299798.16 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC9A7_chrX_46594251_46764118 | 46665563 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02451.hp1 HG03834.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0024others(1): Show | a0001c0001t0001g0107 a0001c0001t0004g0026 a0001c0001t0004g0042 others(2): Show |
5 | 248 | 0.0202 | 17 | c.794 others(34): Show |
SLC9A7 | ENSG00000065923.10 | transcript | ENST00000616978.5 | protein_coding | 5/16 | chrX | TogoVar | |||||||
SLC9A7_chrX_46594251_46764118 | 46665564 | A | AAAAAAAA others(10): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0191 | 1 | 248 | 0.0040 | 17 | c.794 others(34): Show |
SLC9A7 | ENSG00000065923.10 | transcript | ENST00000616978.5 | protein_coding | 5/16 | chrX | TogoVar | |||||||
SLC9A7_chrX_46594251_46764118 | 46730710 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0002 | a0001c0002t0046 | a0001c0002t0046g0227 | 1 | 244 | 0.0041 | 17 | c.325 others(36): Show |
SLC9A7 | ENSG00000065923.10 | transcript | ENST00000616978.5 | protein_coding | 1/16 | chrX | TogoVar | |||||||
SLC9A8_chr20_49807828_49897242 | 49884274 | G | GACACACA others(10): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0003 | a0001c0003t0031 | a0001c0003t0031g0123 | 1 | 271 | 0.0037 | 17 | c.149 others(34): Show |
SLC9A8 | ENSG00000197818.12 | transcript | ENST00000361573.3 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC9A8_chr20_49807828_49897242 | 49884274 | G | GACACACA others(10): Show |
intron_variant | MODIFIER | NA18995.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0138 | 1 | 271 | 0.0037 | 17 | c.149 others(34): Show |
SLC9A8 | ENSG00000197818.12 | transcript | ENST00000361573.3 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC9A8_chr20_49807828_49897242 | 49884288 | C | CACACACA others(10): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0285 | 1 | 157 | 0.0064 | 17 | c.149 others(34): Show |
SLC9A8 | ENSG00000197818.12 | transcript | ENST00000361573.3 | protein_coding | 14/15 | chr20 | TogoVar | |||||||
SLC9A9_chr3_143260222_143853468 | 143467727 | A | AGAGAGAG others(10): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0007 | 1 | 32 | 0.0313 | 17 | c.131 others(34): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 11/15 | chr3 | TogoVar | |||||||
SLC9A9_chr3_143260222_143853468 | 143841754 | C | CTTTTCTT others(10): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(83): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0009 others(83): Show |
86 | 105 | 0.8190 | 17 | c.175 others(34): Show |
SLC9A9 | ENSG00000181804.15 | transcript | ENST00000316549.11 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
SLC9B1_chr4_102895928_103024705 | 103016134 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03195.hp2 NA19009.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 a0001c0001t0001g0312 |
2 | 112 | 0.0179 | 17 | c.-2+ others(32): Show |
SLC9B1 | ENSG00000164037.17 | transcript | ENST00000296422.12 | protein_coding | 1/11 | chr4 | TogoVar | |||||||
SLC9C1_chr3_112135898_112299216 | 112183349 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01361.hp2 HG02071.hp2 others(10): Show |
a0002a0004 | a0002c0001a0004c0004 | a0002c0001t0001a0004c0004t0001 | a0002c0001t0001g0006 a0002c0001t0001g0079 a0002c0001t0001g0199 others(9): Show |
13 | 15 | 0.8667 | 17 | c.252 others(36): Show |
SLC9C1 | ENSG00000172139.15 | transcript | ENST00000305815.10 | protein_coding | 20/28 | chr3 | TogoVar | |||||||
SLC9C1_chr3_112135898_112299216 | 112295698 | A | ATATATAT others(10): Show |
upstream_gene_variant | MODIFIER | HG00642.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0314 | 1 | 368 | 0.0027 | 17 | c.-16 others(28): Show |
SLC9C1 | ENSG00000172139.15 | transcript | ENST00000305815.10 | protein_coding | 1483 | chr3 | TogoVar | |||||||
SLC9C2_chr1_173495460_173608072 | 173550872 | A | AGAGAGAG others(10): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0026 | 1 | 78 | 0.0128 | 17 | c.129 others(36): Show |
SLC9C2 | ENSG00000162753.13 | transcript | ENST00000367714.4 | protein_coding | 11/27 | chr1 | TogoVar | |||||||
SLCO1A2_chr12_21259600_21339917 | 21312067 | A | AGGAAGAA others(10): Show |
intron_variant | MODIFIER | HG01884.hp2 NA18906.hp1 |
a0001 | a0001c0004 | a0001c0004t0020 | a0001c0004t0020g0274 a0001c0004t0020g0275 |
2 | 308 | 0.0065 | 17 | c.335 others(34): Show |
SLCO1A2 | ENSG00000084453.17 | transcript | ENST00000683939.1 | protein_coding | 4/14 | chr12 | TogoVar | |||||||
SLCO1B1_chr12_21126194_21244796 | 21151779 | G | GGGAAGGT others(10): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0222 | 1 | 316 | 0.0032 | 17 | c.84+ others(34): Show |
SLCO1B1 | ENSG00000134538.3 | transcript | ENST00000256958.3 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SLCO1B1_chr12_21126194_21244796 | 21152533 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | NA18986.hp2 NA19009.hp1 NA19090.hp2 |
a0001a0009 | a0001c0003a0009c0011 | a0001c0003t0002a0001c0003t0005a0009c0011t0002 | a0001c0003t0002g0237 a0001c0003t0005g0154 a0009c0011t0002g0187 |
3 | 54 | 0.0556 | 17 | c.84+ others(34): Show |
SLCO1B1 | ENSG00000134538.3 | transcript | ENST00000256958.3 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SLCO2B1_chr11_75146107_75211549 | 75202518 | C | CCAGAGGA others(10): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01099.hp1 HG01884.hp2 others(31): Show |
a0001a0002a0005 | a0001c0001a0001c0012a0002c0008others(3): Show | a0001c0001t0004a0001c0001t0016a0001c0012t0004others(6): Show | a0001c0001t0004g0009 a0001c0001t0004g0010 a0001c0001t0004g0054 others(29): Show |
34 | 370 | 0.0919 | 17 | c.176 others(34): Show |
SLCO2B1 | ENSG00000137491.15 | transcript | ENST00000289575.10 | protein_coding | 11/13 | chr11 | TogoVar | |||||||
SLCO3A1_chr15_91848708_92170903 | 91971394 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0002 | a0002c0015 | a0002c0015t0035 | a0002c0015t0035g0085 | 1 | 41 | 0.0244 | 17 | c.646 others(36): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLCO3A1_chr15_91848708_92170903 | 92016233 | A | ATAGATAG others(10): Show |
intron_variant | MODIFIER | HG03704.hp2 HG04184.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0041 | a0001c0001t0002g0081 a0001c0002t0041g0003 |
2 | 182 | 0.0110 | 17 | c.647 others(36): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLCO3A1_chr15_91848708_92170903 | 92047474 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0006 | 1 | 170 | 0.0059 | 17 | c.647 others(36): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLCO3A1_chr15_91848708_92170903 | 92047525 | A | AAATATAT others(10): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0189 | 1 | 176 | 0.0057 | 17 | c.647 others(36): Show |
SLCO3A1 | ENSG00000176463.14 | transcript | ENST00000318445.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLCO4A1_chr20_62637503_62677293 | 62666115 | C | CCCCTTCC others(10): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0012 | a0001c0012t0003 | a0001c0012t0003g0341 | 1 | 348 | 0.0029 | 17 | c.127 others(34): Show |
SLCO4A1 | ENSG00000101187.16 | transcript | ENST00000217159.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLCO5A1_chr8_69662046_69839978 | 69784811 | A | AAAAAGAA others(10): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0038 | 1 | 38 | 0.0263 | 17 | c.908 others(36): Show |
SLCO5A1 | ENSG00000137571.11 | transcript | ENST00000260126.9 | protein_coding | 2/9 | chr8 | TogoVar | |||||||
SLCO5A1_chr8_69662046_69839978 | 69784811 | A | AGAAAGAA others(10): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01261.hp2 |
a0001a0003 | a0001c0004a0003c0006 | a0001c0004t0049a0003c0006t0027 | a0001c0004t0049g0184 a0003c0006t0027g0078 |
2 | 39 | 0.0513 | 17 | c.908 others(36): Show |
SLCO5A1 | ENSG00000137571.11 | transcript | ENST00000260126.9 | protein_coding | 2/9 | chr8 | TogoVar | |||||||
SLCO6A1_chr5_102366774_102504001 | 102419658 | G | GTATTATA others(10): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02145.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0265 a0001c0001t0001g0266 a0001c0001t0001g0267 others(10): Show |
13 | 340 | 0.0382 | 17 | c.147 others(34): Show |
SLCO6A1 | ENSG00000205359.10 | transcript | ENST00000506729.6 | protein_coding | 8/13 | chr5 | TogoVar | |||||||
SLCO6A1_chr5_102366774_102504001 | 102472547 | A | ATATATAC others(10): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0079 | 1 | 340 | 0.0029 | 17 | c.899 others(34): Show |
SLCO6A1 | ENSG00000205359.10 | transcript | ENST00000506729.6 | protein_coding | 4/13 | chr5 | TogoVar | |||||||
SLF1_chr5_94613669_94702621 | 94686862 | A | ACTGTAAG others(10): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0341 | 1 | 362 | 0.0028 | 17 | c.212 others(34): Show |
SLF1 | ENSG00000133302.13 | transcript | ENST00000265140.10 | protein_coding | 16/20 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLFN12_chr17_35405922_35437500 | 35425838 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0079 | 1 | 177 | 0.0056 | 17 | c.-40 others(34): Show |
SLFN12 | ENSG00000172123.13 | transcript | ENST00000304905.10 | protein_coding | 1/3 | chr17 | TogoVar | |||||||
SLFN14_chr17_35538985_35565819 | 35561749 | A | AAAAAAAA others(10): Show |
upstream_gene_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0137 | 1 | 280 | 0.0036 | 17 | c.-11 others(28): Show |
SLFN14 | ENSG00000236320.4 | transcript | ENST00000674182.1 | protein_coding | 931 | chr17 | TogoVar | |||||||
SLIT2_chr4_20246905_20625561 | 20511587 | A | ATTTTTTT others(10): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01516.hp2 HG02055.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0002g0062 a0001c0001t0005g0057 a0001c0001t0005g0097 others(3): Show |
6 | 64 | 0.0938 | 17 | c.105 others(34): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20518587 | A | ATATATAT others(10): Show |
intron_variant | MODIFIER | HG02683.hp2 NA20905.hp1 |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0191 a0001c0002t0008g0192 |
2 | 175 | 0.0114 | 17 | c.105 others(34): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 11/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLIT2_chr4_20246905_20625561 | 20518588 | T | TATATATA others(10): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01256.hp1 HG01978.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0005a0001c0002t0002a0001c0003t0028 | a0001c0001t0005g0057 a0001c0001t0005g0137 a0001c0002t0002g0055 others(2): Show |
5 | 179 | 0.0279 | 17 | c.105 others(34): Show |
SLIT2 | ENSG00000145147.20 | transcript | ENST00000504154.6 | protein_coding | 11/36 | chr4 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168726376 | G | GAGAGGGA others(10): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0052 | a0001c0052t0005 | a0001c0052t0005g0088 | 1 | 106 | 0.0094 | 17 | c.227 others(36): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 20/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168828658 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00735.hp1 HG01081.hp2 others(16): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0006others(13): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0072 others(16): Show |
19 | 58 | 0.3276 | 17 | c.558 others(34): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 6/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 168952528 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 52 | 0.0192 | 17 | c.414 others(36): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLIT3_chr5_168656740_169306139 | 169079819 | A | AGGAGGGA others(10): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01433.hp2 HG02027.hp2 others(2): Show |
a0001a0002a0008 | a0001c0007a0001c0013a0002c0002others(2): Show | a0001c0007t0001a0001c0013t0001a0002c0002t0008others(2): Show | a0001c0007t0001g0095 a0001c0013t0001g0047 a0002c0002t0008g0022 others(2): Show |
5 | 7 | 0.7143 | 17 | c.413 others(38): Show |
SLIT3 | ENSG00000184347.16 | transcript | ENST00000519560.6 | protein_coding | 4/35 | chr5 | TogoVar | |||||||
SLITRK2_chrX_145812829_145834856 | 145817753 | C | CCCTCCTC others(10): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0008 | a0001c0008t0036 | a0001c0008t0036g0006 | 1 | 324 | 0.0031 | 17 | c.-10 others(28): Show |
SLITRK2 | ENSG00000185985.11 | transcript | ENST00000335565.6 | protein_coding | 75 | chrX | TogoVar | |||||||
SLITRK3_chr3_165181720_165201384 | 165196916 | T | TCTCTCTC others(10): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0107 | 1 | 412 | 0.0024 | 17 | c.-13 others(28): Show |
SLITRK3 | ENSG00000121871.4 | transcript | ENST00000475390.2 | protein_coding | 533 | chr3 | TogoVar | |||||||
SLITRK3_chr3_165181720_165201384 | 165196920 | T | TCTCTCTC others(10): Show |
upstream_gene_variant | MODIFIER | NA19067.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 412 | 0.0024 | 17 | c.-13 others(28): Show |
SLITRK3 | ENSG00000121871.4 | transcript | ENST00000475390.2 | protein_coding | 537 | chr3 | TogoVar | |||||||
SLITRK6_chr13_85787790_85804419 | 85801943 | T | TCCCAGGC others(10): Show |
upstream_gene_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 430 | 0.0023 | 17 | c.-30 others(28): Show |
SLITRK6 | ENSG00000184564.11 | transcript | ENST00000647374.2 | protein_coding | 2525 | chr13 | TogoVar | |||||||
SLK_chr10_103962140_104034233 | 103974655 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00609.hp1 others(40): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0003c0012others(1): Show | a0001c0001t0006a0001c0001t0007a0001c0001t0011others(8): Show | a0001c0001t0006g0009 a0001c0001t0006g0131 a0001c0001t0006g0132 others(38): Show |
43 | 138 | 0.3116 | 17 | c.150 others(34): Show |
SLK | ENSG00000065613.15 | transcript | ENST00000369755.4 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SLPI_chr20_45247239_45259564 | 45258282 | A | ATAGATAG others(10): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02630.hp1 HG02809.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0021 |
7 | 387 | 0.0181 | 17 | c.-37 others(28): Show |
SLPI | ENSG00000124107.5 | transcript | ENST00000338380.2 | protein_coding | 3719 | chr20 | TogoVar | |||||||
SLTM_chr15_58874050_58938679 | 58922377 | C | CAAAAAAA others(10): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0246 | 1 | 13 | 0.0769 | 17 | c.251 others(34): Show |
SLTM | ENSG00000137776.17 | transcript | ENST00000380516.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
SMAD2_chr18_47803957_47935659 | 47813711 | A | ATTTTTTT others(10): Show |
3_prime_UTR_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0174 | 1 | 6 | 0.1667 | 17 | c.*28 others(30): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 11/11 | 28115 | chr18 | TogoVar | ||||||
SMAD2_chr18_47803957_47935659 | 47882041 | C | CTTTTTTT others(10): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02615.hp2 HG02647.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0113a0001c0001t0122others(3): Show | a0001c0001t0025g0189 a0001c0001t0113g0175 a0001c0001t0122g0218 others(3): Show |
6 | 45 | 0.1333 | 17 | c.237 others(36): Show |
SMAD2 | ENSG00000175387.16 | transcript | ENST00000262160.11 | protein_coding | 2/10 | chr18 | TogoVar | |||||||
SMAD4_chr18_51025213_51090042 | 51039489 | A | ACCCCCCC others(10): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0001 | 1 | 263 | 0.0038 | 17 | c.-12 others(36): Show |
SMAD4 | ENSG00000141646.16 | transcript | ENST00000342988.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |