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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SKIL_chr3_170352715_170401835 | 170382261 | TTTGAAA | T | intron_variant | MODIFIER | HG01433.hp2 HG02809.hp1 HG02818.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0016a0002c0002t0057 | a0002c0002t0016g0022 a0002c0002t0016g0024 a0002c0002t0016g0025 others(2): Show |
5 | 362 | 0.0138 | -6 | c.119 others(23): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SKIL_chr3_170352715_170401835 | 170394115 | ATTTTTT | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG01168.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0061a0001c0001t0062 | a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0010 others(19): Show |
23 | 362 | 0.0635 | -6 | c.*17 others(17): Show |
SKIL | ENSG00000136603.15 | transcript | ENST00000259119.9 | protein_coding | 7/7 | 1724 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SKP2_chr5_36147111_36189319 | 36153213 | GATATAT | G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG01081.hp1 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0006 a0001c0001t0001g0018 a0001c0001t0001g0035 others(31): Show |
49 | 402 | 0.1219 | -6 | c.280 others(21): Show |
SKP2 | ENSG00000145604.17 | transcript | ENST00000274255.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SKP2_chr5_36147111_36189319 | 36167120 | CTTTTTG | C | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0002g0246 a0001c0001t0003g0167 a0001c0001t0007g0078 others(5): Show |
8 | 402 | 0.0199 | -6 | c.536 others(21): Show |
SKP2 | ENSG00000145604.17 | transcript | ENST00000274255.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLA2_chr20_36607318_36651196 | 36609189 | ACACACG | A | downstream_gene_variant | MODIFIER | HG03209.hp1 NA19007.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0241 a0001c0001t0001g0297 |
3 | 360 | 0.0083 | -6 | c.*46 others(17): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 3128 | chr20 | TogoVar | |||||||
SLA2_chr20_36607318_36651196 | 36648197 | GTATTAT | G | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02071.hp2 HG02970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 a0001c0001t0001g0352 a0001c0001t0001g0353 others(1): Show |
4 | 360 | 0.0111 | -6 | c.-24 others(17): Show |
SLA2 | ENSG00000101082.14 | transcript | ENST00000262866.9 | protein_coding | 2002 | chr20 | TogoVar | |||||||
SLAIN2_chr4_48336529_48431201 | 48364873 | AGGGAGG | A | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01074.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0007a0001c0001t0016others(5): Show | a0001c0001t0001g0123 a0001c0001t0001g0155 a0001c0001t0007g0337 others(16): Show |
20 | 348 | 0.0575 | -6 | c.390 others(23): Show |
SLAIN2 | ENSG00000109171.15 | transcript | ENST00000264313.11 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLAIN2_chr4_48336529_48431201 | 48371971 | TACACAC | T | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01074.hp1 others(15): Show |
a0001a0006 | a0001c0002a0001c0003a0006c0008 | a0001c0002t0005a0001c0002t0009a0001c0002t0031others(2): Show | a0001c0002t0005g0005 a0001c0002t0005g0173 a0001c0002t0005g0174 others(14): Show |
18 | 348 | 0.0517 | -6 | c.538 others(23): Show |
SLAIN2 | ENSG00000109171.15 | transcript | ENST00000264313.11 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLAIN2_chr4_48336529_48431201 | 48372031 | TATATAC | T | intron_variant | MODIFIER | HG01167.hp1 HG02622.hp1 HG02886.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0154 a0001c0001t0001g0155 a0001c0001t0001g0156 others(6): Show |
9 | 348 | 0.0259 | -6 | c.538 others(23): Show |
SLAIN2 | ENSG00000109171.15 | transcript | ENST00000264313.11 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLAIN2_chr4_48336529_48431201 | 48412365 | TACACAC | T | intron_variant | MODIFIER | HG01433.hp2 HG02004.hp2 HG02273.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 a0001c0001t0001g0124 a0001c0001t0001g0127 others(3): Show |
6 | 348 | 0.0172 | -6 | c.136 others(25): Show |
SLAIN2 | ENSG00000109171.15 | transcript | ENST00000264313.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLAIN2_chr4_48336529_48431201 | 48412411 | CACACAT | C | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01175.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0034 | a0001c0001t0003g0004 a0001c0001t0003g0164 a0001c0001t0003g0185 others(14): Show |
18 | 348 | 0.0517 | -6 | c.136 others(25): Show |
SLAIN2 | ENSG00000109171.15 | transcript | ENST00000264313.11 | protein_coding | 6/7 | chr4 | TogoVar | |||||||
SLAIN2_chr4_48336529_48431201 | 48418074 | TTTCTTC | T | intron_variant | MODIFIER | HG00642.hp1 HG03225.hp1 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 a0001c0001t0001g0118 a0001c0001t0001g0226 |
3 | 348 | 0.0086 | -6 | c.136 others(25): Show |
SLAIN2 | ENSG00000109171.15 | transcript | ENST00000264313.11 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SLAMF1_chr1_160603106_160652044 | 160615207 | GTAAGTC | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(221): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0013others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(205): Show |
224 | 420 | 0.5333 | -6 | c.865 others(23): Show |
SLAMF1 | ENSG00000117090.16 | transcript | ENST00000302035.11 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
SLAMF1_chr1_160603106_160652044 | 160647762 | ATGTGTG | A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(47): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0080 a0001c0001t0001g0099 a0001c0001t0001g0350 others(41): Show |
50 | 420 | 0.1191 | -6 | c.-82 others(15): Show |
SLAMF1 | ENSG00000117090.16 | transcript | ENST00000302035.11 | protein_coding | 719 | chr1 | TogoVar | |||||||
SLAMF7_chr1_160734247_160759821 | 160751816 | ATCTCTC | A | intron_variant | MODIFIER | HG01258.hp2 HG01361.hp1 NA19062.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0062 a0001c0001t0002g0207 a0001c0004t0002g0062 |
3 | 440 | 0.0068 | -6 | c.874 others(21): Show |
SLAMF7 | ENSG00000026751.17 | transcript | ENST00000368043.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLAMF7_chr1_160734247_160759821 | 160751858 | CTCTCTA | C | intron_variant | MODIFIER | HG00544.hp2 NA18944.hp1 NA18952.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0015 a0001c0004t0002g0015 |
4 | 440 | 0.0091 | -6 | c.874 others(21): Show |
SLAMF7 | ENSG00000026751.17 | transcript | ENST00000368043.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLAMF7_chr1_160734247_160759821 | 160751860 | CTCTATA | C | intron_variant | MODIFIER | HG00735.hp2 HG02129.hp2 NA18612.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0030 a0001c0001t0010g0030 |
3 | 440 | 0.0068 | -6 | c.874 others(21): Show |
SLAMF7 | ENSG00000026751.17 | transcript | ENST00000368043.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLAMF7_chr1_160734247_160759821 | 160751862 | CTATATA | C | intron_variant | MODIFIER | HG01243.hp1 HG02071.hp1 HG02148.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0032 a0001c0001t0002g0201 a0001c0001t0002g0232 others(2): Show |
6 | 440 | 0.0136 | -6 | c.874 others(21): Show |
SLAMF7 | ENSG00000026751.17 | transcript | ENST00000368043.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLAMF9_chr1_159946492_159959237 | 159948187 | TTCCTCC | T | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00733.hp1 HG00741.hp1 others(54): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0004c0005t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0027 others(1): Show |
57 | 384 | 0.1484 | -6 | c.*34 others(17): Show |
SLAMF9 | ENSG00000162723.10 | transcript | ENST00000368093.4 | protein_coding | 3304 | chr1 | TogoVar | |||||||
SLA_chr8_133031728_133107602 | 133039974 | CACACAT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(122): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0007 a0001c0001t0001g0020 a0001c0001t0001g0023 others(120): Show |
125 | 344 | 0.3634 | -6 | c.617 others(19): Show |
SLA | ENSG00000155926.14 | transcript | ENST00000338087.10 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
SLA_chr8_133031728_133107602 | 133070001 | CAAAAAA | C | intron_variant | MODIFIER | HG01123.hp1 HG01516.hp1 HG01891.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0292 a0001c0001t0003g0230 a0001c0001t0003g0231 others(3): Show |
6 | 344 | 0.0174 | -6 | c.-41 others(23): Show |
SLA | ENSG00000155926.14 | transcript | ENST00000338087.10 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
SLA_chr8_133031728_133107602 | 133087071 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00735.hp1 others(50): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0001g0112 others(48): Show |
53 | 344 | 0.1541 | -6 | c.-31 others(27): Show |
SLA | ENSG00000155926.14 | transcript | ENST00000338087.10 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
SLBP_chr4_1687731_1717319 | 1687805 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00642.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 a0001c0001t0001g0054 a0001c0001t0001g0156 others(13): Show |
18 | 376 | 0.0479 | -6 | c.*57 others(17): Show |
SLBP | ENSG00000163950.13 | transcript | ENST00000489418.6 | protein_coding | 4925 | chr4 | TogoVar | |||||||
SLC10A2_chr13_103038998_103071417 | 103053081 | GGTGTGT | G | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00423.hp1 others(89): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0013a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0019 others(32): Show |
92 | 428 | 0.2150 | -6 | c.497 others(21): Show |
SLC10A2 | ENSG00000125255.7 | transcript | ENST00000245312.5 | protein_coding | 2/5 | chr13 | TogoVar | |||||||
SLC10A5_chr8_81688631_81700058 | 81693509 | GTGTATA | G | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00609.hp2 others(29): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0000 | 32 | 426 | 0.0751 | -6 | c.*14 others(15): Show |
SLC10A5 | ENSG00000253598.3 | transcript | ENST00000518568.3 | protein_coding | 121 | chr8 | TogoVar | |||||||
SLC10A6_chr4_86818468_86854384 | 86842711 | AGAAAAG | A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00621.hp1 others(60): Show |
a0001a0005a0007others(2): Show | a0001c0001a0001c0004a0005c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(5): Show | a0001c0001t0001g0009 a0001c0001t0001g0227 a0001c0001t0001g0228 others(60): Show |
63 | 350 | 0.1800 | -6 | c.377 others(23): Show |
SLC10A6 | ENSG00000145283.8 | transcript | ENST00000273905.7 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SLC10A6_chr4_86818468_86854384 | 86843187 | GTTGTTT | G | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02572.hp1 others(10): Show |
a0001a0004a0005others(2): Show | a0001c0001a0004c0003a0005c0006others(2): Show | a0001c0001t0001a0004c0003t0001a0005c0006t0001others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0227 a0001c0001t0001g0228 others(10): Show |
13 | 350 | 0.0371 | -6 | c.377 others(23): Show |
SLC10A6 | ENSG00000145283.8 | transcript | ENST00000273905.7 | protein_coding | 1/5 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146326917 | GACACAC | G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(137): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0018 others(137): Show |
140 | 244 | 0.5738 | -6 | c.436 others(21): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 5/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146335251 | TAAAAAA | T | intron_variant | MODIFIER | HG02055.hp1 HG02148.hp2 HG02615.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0106 a0001c0001t0003g0048 a0001c0001t0006g0091 others(5): Show |
8 | 244 | 0.0328 | -6 | c.436 others(23): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 5/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146362649 | TAACTAC | T | intron_variant | MODIFIER | HG00408.hp1 HG01123.hp1 HG01346.hp1 others(34): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0001g0164 a0001c0001t0004g0125 a0001c0001t0004g0127 others(34): Show |
37 | 244 | 0.1516 | -6 | c.436 others(25): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 5/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146374657 | CACACAT | C | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG01099.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0004g0016 a0001c0001t0004g0019 a0001c0001t0004g0042 others(11): Show |
14 | 244 | 0.0574 | -6 | c.436 others(25): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 5/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146404476 | ATGTGTG | A | intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG02109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0166 a0001c0001t0002g0083 a0001c0001t0003g0183 others(6): Show |
9 | 244 | 0.0369 | -6 | c.435 others(25): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 5/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146418002 | AGATGAT | A | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02055.hp2 others(12): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0006a0001c0001t0007a0001c0001t0009others(2): Show | a0001c0001t0006g0091 a0001c0001t0006g0174 a0001c0001t0006g0175 others(12): Show |
15 | 244 | 0.0615 | -6 | c.435 others(25): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 5/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146467454 | AACACAC | A | intron_variant | MODIFIER | HG00733.hp1 HG02155.hp2 HG02280.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0135 a0001c0001t0004g0081 a0001c0001t0004g0086 others(9): Show |
12 | 244 | 0.0492 | -6 | c.397 others(25): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 4/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146495766 | AACACAC | A | intron_variant | MODIFIER | HG02109.hp1 HG02818.hp1 NA19010.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0194 a0001c0001t0004g0195 a0001c0001t0005g0116 |
3 | 244 | 0.0123 | -6 | c.396 others(23): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 4/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146519066 | CATATAT | C | intron_variant | MODIFIER | HG01346.hp2 HG02109.hp1 HG02109.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0075 a0001c0001t0002g0023 a0001c0001t0002g0024 others(8): Show |
11 | 244 | 0.0451 | -6 | c.101 others(23): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 1/11 | chr4 | TogoVar | |||||||
SLC12A1_chr15_48201302_48309078 | 48236092 | AACACAC | A | intron_variant | MODIFIER | HG00438.hp1 HG01361.hp1 HG01496.hp2 others(35): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0051 a0001c0001t0001g0063 a0001c0001t0001g0118 others(35): Show |
38 | 266 | 0.1429 | -6 | c.121 others(25): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 9/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A1_chr15_48201302_48309078 | 48252207 | AAATAAG | A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01243.hp1 others(18): Show |
a0001a0004 | a0001c0001a0001c0010a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0183 others(18): Show |
21 | 266 | 0.0790 | -6 | c.194 others(23): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A1_chr15_48201302_48309078 | 48289394 | CATATAT | C | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG00673.hp1 others(22): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0078 a0001c0001t0001g0119 a0001c0001t0001g0121 others(22): Show |
25 | 266 | 0.0940 | -6 | c.287 others(23): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A1_chr15_48201302_48309078 | 48289478 | AACAATG | A | intron_variant | MODIFIER | HG00621.hp2 HG00673.hp1 HG02040.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0064 a0001c0001t0003g0021 a0001c0001t0003g0100 others(18): Show |
21 | 266 | 0.0790 | -6 | c.287 others(23): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 23/26 | chr15 | TogoVar | |||||||
SLC12A1_chr15_48201302_48309078 | 48290787 | ATTATAC | A | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02572.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0183 a0001c0001t0002g0040 others(6): Show |
9 | 266 | 0.0338 | -6 | c.287 others(23): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SLC12A1_chr15_48201302_48309078 | 48307503 | ATTTTTT | A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00673.hp2 HG01175.hp1 others(31): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0011t0001others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0048 a0001c0001t0001g0049 others(31): Show |
34 | 266 | 0.1278 | -6 | c.*46 others(17): Show |
SLC12A1 | ENSG00000074803.21 | transcript | ENST00000380993.8 | protein_coding | 3426 | chr15 | TogoVar | |||||||
SLC12A2_chr5_128078766_128194677 | 128104672 | TATATAG | T | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00558.hp1 others(142): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0041a0001c0002t0001a0001c0002t0004others(29): Show | a0001c0001t0041g0218 a0001c0002t0001g0003 a0001c0002t0001g0004 others(140): Show |
145 | 354 | 0.4096 | -6 | c.757 others(23): Show |
SLC12A2 | ENSG00000064651.14 | transcript | ENST00000262461.7 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SLC12A3_chr16_56860207_56920850 | 56863689 | AGTGTGT | A | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01167.hp2 HG01255.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0015 | a0001c0001t0001a0006c0015t0001a0006c0015t0004 | a0001c0001t0001g0161 a0006c0015t0001g0189 a0006c0015t0001g0191 others(1): Show |
4 | 420 | 0.0095 | -6 | c.-15 others(17): Show |
SLC12A3 | ENSG00000070915.10 | transcript | ENST00000563236.6 | protein_coding | 1517 | chr16 | TogoVar | |||||||
SLC12A3_chr16_56860207_56920850 | 56865986 | CTTTTCT | C | intron_variant | MODIFIER | HG00423.hp2 HG01884.hp1 HG02559.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0003a0001c0002t0004a0003c0006t0003others(1): Show | a0001c0001t0003g0403 a0001c0001t0003g0404 a0001c0002t0004g0405 others(6): Show |
9 | 420 | 0.0214 | -6 | c.282 others(21): Show |
SLC12A3 | ENSG00000070915.10 | transcript | ENST00000563236.6 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC12A3_chr16_56860207_56920850 | 56882058 | AAAAAAG | A | intron_variant | MODIFIER | HG02922.hp1 HG02976.hp1 NA18522.hp1 others(3): Show |
a0004 | a0004c0013a0004c0048 | a0004c0013t0006a0004c0013t0009a0004c0048t0006 | a0004c0013t0006g0064 a0004c0013t0006g0072 a0004c0013t0006g0123 others(3): Show |
6 | 420 | 0.0143 | -6 | c.156 others(23): Show |
SLC12A3 | ENSG00000070915.10 | transcript | ENST00000563236.6 | protein_coding | 12/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC12A3_chr16_56860207_56920850 | 56893950 | GTATTTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG02040.hp1 others(20): Show |
a0001a0012 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0002g0033 a0001c0001t0002g0037 a0001c0001t0002g0041 others(20): Show |
23 | 420 | 0.0548 | -6 | c.252 others(23): Show |
SLC12A3 | ENSG00000070915.10 | transcript | ENST00000563236.6 | protein_coding | 21/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SLC12A5_chr20_46024215_46065150 | 46029885 | TGTGTGC | T | intron_variant | MODIFIER | HG01167.hp1 HG01261.hp1 HG02109.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020a0001c0001t0029 | a0001c0001t0001g0003 a0001c0001t0001g0220 a0001c0001t0001g0221 others(2): Show |
20 | 404 | 0.0495 | -6 | c.52+ others(19): Show |
SLC12A5 | ENSG00000124140.15 | transcript | ENST00000243964.7 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC12A5_chr20_46024215_46065150 | 46029887 | TGTGCGC | T | intron_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00609.hp1 others(43): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0106 a0001c0001t0001g0110 a0001c0001t0002g0002 others(20): Show |
46 | 404 | 0.1139 | -6 | c.52+ others(19): Show |
SLC12A5 | ENSG00000124140.15 | transcript | ENST00000243964.7 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SLC12A5_chr20_46024215_46065150 | 46029917 | CGTGTGT | C | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp1 HG01261.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0020 | a0001c0001t0001g0003 a0001c0001t0001g0139 a0001c0001t0001g0220 others(4): Show |
22 | 404 | 0.0545 | -6 | c.52+ others(19): Show |
SLC12A5 | ENSG00000124140.15 | transcript | ENST00000243964.7 | protein_coding | 1/25 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |