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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SKOR2_chr18_47201169_47256660 | 47227326 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG01515.hp1 HG03704.hp2 |
a0001 | a0001c0006 | a0001c0006t0003 | a0001c0006t0003g0155 a0001c0006t0003g0156 a0001c0006t0003g0157 |
3 | 344 | 0.0087 | -12 | c.291 others(31): Show |
SKOR2 | ENSG00000215474.8 | transcript | ENST00000425639.3 | protein_coding | 6/8 | chr18 | TogoVar | |||||||
SKP1_chr5_134143935_134181950 | 134164322 | GAAAAAAA others(5): Show |
G | intron_variant | MODIFIER | HG01358.hp2 HG02280.hp2 NA19083.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0071 | a0001c0001t0001g0111 a0001c0001t0007g0098 a0001c0001t0071g0135 |
3 | 360 | 0.0083 | -12 | c.171 others(29): Show |
SKP1 | ENSG00000113558.19 | transcript | ENST00000353411.11 | protein_coding | 3/5 | chr5 | TogoVar | |||||||
SKP2_chr5_36147111_36189319 | 36153213 | GATATATA others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(191): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(121): Show |
194 | 402 | 0.4826 | -12 | c.280 others(27): Show |
SKP2 | ENSG00000145604.17 | transcript | ENST00000274255.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLA2_chr20_36607318_36651196 | 36609191 | ACACGCAC others(5): Show |
A | downstream_gene_variant | MODIFIER | HG01496.hp1 HG02698.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0182 a0001c0001t0001g0215 a0001c0001t0001g0272 |
3 | 360 | 0.0083 | -12 | c.*46 others(23): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 3126 | chr20 | TogoVar | |||||||
SLA2_chr20_36607318_36651196 | 36609211 | GCACACAC others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 360 | 0.0028 | -12 | c.*46 others(23): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 3106 | chr20 | TogoVar | |||||||
SLA2_chr20_36607318_36651196 | 36618906 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02135.hp1 NA18942.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0042 a0001c0001t0001g0311 |
3 | 360 | 0.0083 | -12 | c.383 others(29): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 5/7 | chr20 | TogoVar | |||||||
SLA2_chr20_36607318_36651196 | 36619220 | GAAAAAAA others(5): Show |
G | intron_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 360 | 0.0028 | -12 | c.383 others(29): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 5/7 | chr20 | TogoVar | |||||||
SLAIN1_chr13_77692687_77769229 | 77693571 | ATTCCTTC others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02615.hp2 HG02886.hp2 HG03225.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0028 a0001c0001t0001g0029 a0002c0002t0001g0167 others(1): Show |
4 | 300 | 0.0133 | -12 | c.-43 others(23): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 4115 | chr13 | TogoVar | |||||||
SLAIN1_chr13_77692687_77769229 | 77693613 | TCCTTCCT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 300 | 0.0033 | -12 | c.-43 others(23): Show |
SLAIN1 | ENSG00000139737.23 | transcript | ENST00000418532.6 | protein_coding | 4073 | chr13 | TogoVar | |||||||
SLAIN2_chr4_48336529_48431201 | 48400388 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01074.hp1 others(23): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0005a0001c0002t0009a0001c0002t0030others(4): Show | a0001c0002t0005g0005 a0001c0002t0005g0173 a0001c0002t0005g0174 others(22): Show |
26 | 348 | 0.0747 | -12 | c.136 others(33): Show |
SLAIN2 | ENSG00000109171.15 | transcript | ENST00000264313.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLAIN2_chr4_48336529_48431201 | 48412365 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG03139.hp2 NA18991.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0023a0001c0001t0027 | a0001c0001t0001g0035 a0001c0001t0023g0031 a0001c0001t0027g0181 |
3 | 348 | 0.0086 | -12 | c.136 others(31): Show |
SLAIN2 | ENSG00000109171.15 | transcript | ENST00000264313.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLAIN2_chr4_48336529_48431201 | 48412405 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG02615.hp1 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016 | a0001c0001t0003g0168 a0001c0001t0016g0340 |
2 | 348 | 0.0058 | -12 | c.136 others(31): Show |
SLAIN2 | ENSG00000109171.15 | transcript | ENST00000264313.11 | protein_coding | 6/7 | chr4 | TogoVar | |||||||
SLAMF1_chr1_160603106_160652044 | 160640325 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 420 | 0.0024 | -12 | c.77- others(27): Show |
SLAMF1 | ENSG00000117090.16 | transcript | ENST00000302035.11 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
SLAMF1_chr1_160603106_160652044 | 160647762 | ATGTGTGT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02895.hp2 HG02897.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0021 | a0001c0001t0002g0010 a0001c0001t0004g0162 a0001c0001t0021g0161 |
4 | 420 | 0.0095 | -12 | c.-82 others(21): Show |
SLAMF1 | ENSG00000117090.16 | transcript | ENST00000302035.11 | protein_coding | 719 | chr1 | TogoVar | |||||||
SLAMF6_chr1_160480036_160528255 | 160484211 | TTATATAT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG04204.hp2 NA19006.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0218 |
2 | 394 | 0.0051 | -12 | c.*24 others(23): Show |
SLAMF6 | ENSG00000162739.14 | transcript | ENST00000368057.8 | protein_coding | 824 | chr1 | TogoVar | |||||||
SLAMF6_chr1_160480036_160528255 | 160495173 | TGAGTGAA others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG01884.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0232 |
2 | 394 | 0.0051 | -12 | c.382 others(27): Show |
SLAMF6 | ENSG00000162739.14 | transcript | ENST00000368057.8 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
SLAMF7_chr1_160734247_160759821 | 160740284 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG02572.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0075 a0001c0001t0009g0284 |
3 | 440 | 0.0068 | -12 | c.55+ others(25): Show |
SLAMF7 | ENSG00000026751.17 | transcript | ENST00000368043.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLAMF7_chr1_160734247_160759821 | 160751816 | ATCTCTCT others(5): Show |
A | intron_variant | MODIFIER | NA19006.hp1 NA19077.hp1 NA19079.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0005 | a0001c0001t0002g0212 a0002c0002t0005g0097 a0002c0002t0005g0100 |
3 | 440 | 0.0068 | -12 | c.874 others(27): Show |
SLAMF7 | ENSG00000026751.17 | transcript | ENST00000368043.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLAMF7_chr1_160734247_160759821 | 160751852 | CTCTCTCT others(5): Show |
C | intron_variant | MODIFIER | HG02451.hp2 NA18965.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0036 a0001c0001t0003g0133 |
3 | 440 | 0.0068 | -12 | c.874 others(27): Show |
SLAMF7 | ENSG00000026751.17 | transcript | ENST00000368043.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLAMF7_chr1_160734247_160759821 | 160751854 | CTCTCTCT others(5): Show |
C | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0221 | 1 | 440 | 0.0023 | -12 | c.874 others(27): Show |
SLAMF7 | ENSG00000026751.17 | transcript | ENST00000368043.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLAMF7_chr1_160734247_160759821 | 160751856 | CTCTCTCT others(5): Show |
C | intron_variant | MODIFIER | HG01358.hp2 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0110 a0001c0001t0003g0114 |
2 | 440 | 0.0046 | -12 | c.874 others(27): Show |
SLAMF7 | ENSG00000026751.17 | transcript | ENST00000368043.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLAMF7_chr1_160734247_160759821 | 160751860 | CTCTATAT others(5): Show |
C | intron_variant | MODIFIER | HG00621.hp2 HG02818.hp2 NA18979.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0040 a0001c0001t0003g0112 |
3 | 440 | 0.0068 | -12 | c.874 others(27): Show |
SLAMF7 | ENSG00000026751.17 | transcript | ENST00000368043.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLAMF7_chr1_160734247_160759821 | 160751862 | CTATATAT others(5): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02976.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0275 a0001c0001t0003g0126 a0001c0001t0004g0257 |
3 | 440 | 0.0068 | -12 | c.874 others(27): Show |
SLAMF7 | ENSG00000026751.17 | transcript | ENST00000368043.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLA_chr8_133031728_133107602 | 133055365 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0001g0292 a0001c0001t0007g0290 a0001c0001t0008g0293 others(1): Show |
4 | 344 | 0.0116 | -12 | c.62- others(27): Show |
SLA | ENSG00000155926.14 | transcript | ENST00000338087.10 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
SLA_chr8_133031728_133107602 | 133067881 | AGGAAGTA others(5): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG01884.hp1 HG01934.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0028 others(20): Show |
24 | 344 | 0.0698 | -12 | c.-41 others(29): Show |
SLA | ENSG00000155926.14 | transcript | ENST00000338087.10 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
SLA_chr8_133031728_133107602 | 133070015 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0329 | 1 | 344 | 0.0029 | -12 | c.-41 others(29): Show |
SLA | ENSG00000155926.14 | transcript | ENST00000338087.10 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
SLA_chr8_133031728_133107602 | 133087071 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG00639.hp2 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0093 a0001c0001t0001g0140 a0001c0001t0001g0202 others(39): Show |
42 | 344 | 0.1221 | -12 | c.-31 others(33): Show |
SLA | ENSG00000155926.14 | transcript | ENST00000338087.10 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
SLC10A2_chr13_103038998_103071417 | 103053081 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00733.hp2 HG00741.hp1 others(15): Show |
a0001a0006 | a0001c0001a0001c0004a0001c0009others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0004t0002others(3): Show | a0001c0001t0002g0033 a0001c0001t0004g0051 a0001c0001t0004g0120 others(7): Show |
18 | 428 | 0.0421 | -12 | c.497 others(27): Show |
SLC10A2 | ENSG00000125255.7 | transcript | ENST00000245312.5 | protein_coding | 2/5 | chr13 | TogoVar | |||||||
SLC10A6_chr4_86818468_86854384 | 86837277 | AAGAAAGA others(5): Show |
A | intron_variant | MODIFIER | HG03239.hp1 NA18969.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0149 a0002c0002t0001g0246 |
2 | 350 | 0.0057 | -12 | c.378 others(29): Show |
SLC10A6 | ENSG00000145283.8 | transcript | ENST00000273905.7 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SLC10A6_chr4_86818468_86854384 | 86837290 | AAAGGAAG others(5): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG03225.hp1 HG03516.hp2 |
a0002a0005 | a0002c0002a0005c0006 | a0002c0002t0001a0005c0006t0001 | a0002c0002t0001g0263 a0005c0006t0001g0010 a0005c0006t0001g0011 |
3 | 350 | 0.0086 | -12 | c.378 others(29): Show |
SLC10A6 | ENSG00000145283.8 | transcript | ENST00000273905.7 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SLC10A6_chr4_86818468_86854384 | 86842786 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG04204.hp1 NA18943.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0163 a0001c0001t0001g0164 others(1): Show |
4 | 350 | 0.0114 | -12 | c.377 others(29): Show |
SLC10A6 | ENSG00000145283.8 | transcript | ENST00000273905.7 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SLC10A6_chr4_86818468_86854384 | 86851049 | CTTTTTTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01928.hp1 HG01928.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0136 a0001c0001t0001g0174 |
2 | 350 | 0.0057 | -12 | c.-19 others(23): Show |
SLC10A6 | ENSG00000145283.8 | transcript | ENST00000273905.7 | protein_coding | 1666 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146289706 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | NA18906.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0190 a0001c0001t0009g0204 |
2 | 244 | 0.0082 | -12 | c.773 others(29): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146326917 | GACACACA others(5): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG02895.hp1 NA18941.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013a0001c0001t0014 | a0001c0001t0006g0001 a0001c0001t0006g0054 a0001c0001t0006g0236 others(6): Show |
9 | 244 | 0.0369 | -12 | c.436 others(27): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 5/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146418002 | AGATGATG others(5): Show |
A | intron_variant | MODIFIER | NA18967.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0023 | 1 | 244 | 0.0041 | -12 | c.435 others(31): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 5/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146446740 | TTATCTAT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG01243.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0010 a0001c0001t0001g0075 a0001c0001t0001g0135 others(7): Show |
10 | 244 | 0.0410 | -12 | c.397 others(29): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 4/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146491678 | GGGAAGGA others(5): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG01192.hp2 HG01243.hp2 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0018 a0001c0001t0001g0165 a0001c0001t0002g0038 others(23): Show |
26 | 244 | 0.1066 | -12 | c.396 others(31): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 4/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146495358 | TCTCTGCT others(5): Show |
T | intron_variant | MODIFIER | NA18946.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0105 | 1 | 244 | 0.0041 | -12 | c.396 others(29): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 4/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146519066 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG01081.hp2 HG01243.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0096 a0001c0001t0003g0097 a0001c0001t0003g0101 others(12): Show |
15 | 244 | 0.0615 | -12 | c.101 others(29): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 1/11 | chr4 | TogoVar | |||||||
SLC11A2_chr12_50980992_51031384 | 51008223 | CAGATAGA others(5): Show |
C | intron_variant | MODIFIER | HG03225.hp2 HG03490.hp2 HG03492.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0221 a0001c0001t0001g0222 a0001c0002t0003g0181 |
3 | 370 | 0.0081 | -12 | c.183 others(27): Show |
SLC11A2 | ENSG00000110911.17 | transcript | ENST00000262052.9 | protein_coding | 3/15 | chr12 | TogoVar | |||||||
SLC12A1_chr15_48201302_48309078 | 48220124 | AAAAAAGG others(5): Show |
A | intron_variant | MODIFIER | HG02273.hp1 NA18942.hp2 NA18986.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0063 a0001c0001t0002g0062 a0001c0001t0002g0064 others(3): Show |
6 | 266 | 0.0226 | -12 | c.421 others(27): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A1_chr15_48201302_48309078 | 48240038 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG03471.hp1 HG06807.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0002 | a0001c0001t0002g0155 a0001c0001t0005g0031 a0001c0001t0005g0037 others(1): Show |
4 | 266 | 0.0150 | -12 | c.121 others(31): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A1_chr15_48201302_48309078 | 48254592 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01255.hp2 HG02055.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0171 a0001c0001t0001g0260 a0001c0001t0002g0006 others(18): Show |
21 | 266 | 0.0790 | -12 | c.194 others(31): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A1_chr15_48201302_48309078 | 48289394 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0157 | 1 | 266 | 0.0038 | -12 | c.287 others(29): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A2_chr5_128078766_128194677 | 128084251 | GGCGGCGG others(5): Show |
G | disruptive_inframe_deletion | MODERATE | HG02630.hp1 | a0010 | a0010c0013 | a0010c0013t0006 | a0010c0013t0006g0019 | 1 | 354 | 0.0028 | -12 | c.309 others(19): Show |
p.Ala others(13): Show |
SLC12A2 | ENSG00000064651.14 | transcript | ENST00000262461.7 | protein_coding | 1/27 | 498/6874 | 309/3639 | 103/1212 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
SLC12A2_chr5_128078766_128194677 | 128101247 | AAATTGTT others(5): Show |
A | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0022 | 1 | 354 | 0.0028 | -12 | c.757 others(31): Show |
SLC12A2 | ENSG00000064651.14 | transcript | ENST00000262461.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC12A2_chr5_128078766_128194677 | 128102596 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG01993.hp2 HG02056.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0014 | a0001c0002t0001g0052 a0001c0002t0001g0084 a0001c0002t0001g0085 others(2): Show |
5 | 354 | 0.0141 | -12 | c.757 others(31): Show |
SLC12A2 | ENSG00000064651.14 | transcript | ENST00000262461.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC12A3_chr16_56860207_56920850 | 56873374 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0008 | a0001c0008t0018 | a0001c0008t0018g0073 | 1 | 420 | 0.0024 | -12 | c.109 others(29): Show |
SLC12A3 | ENSG00000070915.10 | transcript | ENST00000563236.6 | protein_coding | 8/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC12A3_chr16_56860207_56920850 | 56887790 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0084 | 1 | 420 | 0.0024 | -12 | c.217 others(29): Show |
SLC12A3 | ENSG00000070915.10 | transcript | ENST00000563236.6 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC12A3_chr16_56860207_56920850 | 56887792 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG01256.hp1 HG03491.hp1 NA18942.hp1 others(1): Show |
a0001a0003 | a0001c0002a0001c0007a0001c0012others(1): Show | a0001c0002t0004a0001c0007t0004a0001c0012t0001others(1): Show | a0001c0002t0004g0100 a0001c0007t0004g0216 a0001c0012t0001g0114 others(1): Show |
4 | 420 | 0.0095 | -12 | c.217 others(29): Show |
SLC12A3 | ENSG00000070915.10 | transcript | ENST00000563236.6 | protein_coding | 17/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar |