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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SOX11_chr2_5687384_5706385 | 5706305 | GGGGTAGA others(14): Show |
G | downstream_gene_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0001 | a0001c0001t0126 | a0001c0001t0126g0000 | 1 | 424 | 0.0024 | -21 | c.*12 others(34): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 4921 | chr2 | TogoVar | |||||||
SOX11_chr2_5687384_5706385 | 5706316 | GCAGGGAG others(14): Show |
G | downstream_gene_variant | MODIFIER | NA19059.hp1 | a0001 | a0001c0001 | a0001c0001t0125 | a0001c0001t0125g0000 | 1 | 429 | 0.0023 | -21 | c.*12 others(34): Show |
SOX11 | ENSG00000176887.7 | transcript | ENST00000322002.5 | protein_coding | 4932 | chr2 | TogoVar | |||||||
SOX18_chr20_64042582_64054639 | 64042791 | CGGGGTCG others(14): Show |
C | downstream_gene_variant | MODIFIER | HG00609.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 350 | 0.0057 | -21 | c.*53 others(32): Show |
SOX18 | ENSG00000203883.7 | transcript | ENST00000340356.9 | protein_coding | 4790 | chr20 | TogoVar | |||||||
SOX18_chr20_64042582_64054639 | 64042810 | ACGGGGGT others(14): Show |
A | downstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 302 | 0.0033 | -21 | c.*53 others(32): Show |
SOX18 | ENSG00000203883.7 | transcript | ENST00000340356.9 | protein_coding | 4771 | chr20 | TogoVar | |||||||
SOX18_chr20_64042582_64054639 | 64042831 | GCGGGGGT others(14): Show |
G | downstream_gene_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 229 | 0.0044 | -21 | c.*53 others(32): Show |
SOX18 | ENSG00000203883.7 | transcript | ENST00000340356.9 | protein_coding | 4750 | chr20 | TogoVar | |||||||
SOX18_chr20_64042582_64054639 | 64042852 | ACGGGGGT others(14): Show |
A | downstream_gene_variant | MODIFIER | HG02056.hp1 HG02132.hp1 HG03139.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
10 | 345 | 0.0290 | -21 | c.*52 others(32): Show |
SOX18 | ENSG00000203883.7 | transcript | ENST00000340356.9 | protein_coding | 4729 | chr20 | TogoVar | |||||||
SOX18_chr20_64042582_64054639 | 64042894 | GCGGGGGT others(14): Show |
G | downstream_gene_variant | MODIFIER | HG04184.hp2 NA18948.hp2 NA18978.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0002c0004t0001g0013 |
4 | 223 | 0.0179 | -21 | c.*52 others(32): Show |
SOX18 | ENSG00000203883.7 | transcript | ENST00000340356.9 | protein_coding | 4687 | chr20 | TogoVar | |||||||
SOX18_chr20_64042582_64054639 | 64042915 | ACGGGGGT others(14): Show |
A | downstream_gene_variant | MODIFIER | NA18985.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 245 | 0.0082 | -21 | c.*52 others(32): Show |
SOX18 | ENSG00000203883.7 | transcript | ENST00000340356.9 | protein_coding | 4666 | chr20 | TogoVar | |||||||
SOX21_chr13_94704622_94717545 | 94711564 | GGCGGCGG others(14): Show |
G | disruptive_inframe_deletion | MODERATE | HG02056.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0000 | 1 | 434 | 0.0023 | -21 | c.465 others(28): Show |
p.Ala others(13): Show |
SOX21 | ENSG00000125285.6 | transcript | ENST00000376945.4 | protein_coding | 1/1 | 981/2924 | 465/831 | 155/276 | chr13 | TogoVar | |||
SOX2_chr3_181706925_181719436 | 181715433 | GTTTTTTT others(14): Show |
G | downstream_gene_variant | MODIFIER | HG00642.hp1 HG02895.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0000 a0001c0001t0004g0000 |
4 | 9 | 0.4444 | -21 | c.*21 others(32): Show |
SOX2 | ENSG00000181449.4 | transcript | ENST00000325404.3 | protein_coding | 998 | chr3 | TogoVar | |||||||
SOX3_chrX_140497985_140510069 | 140504329 | TGCGGCCG others(14): Show |
T | disruptive_inframe_deletion | MODERATE | HG02071.hp1 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0000 | 1 | 334 | 0.0030 | -21 | c.711 others(28): Show |
p.Ala others(13): Show |
SOX3 | ENSG00000134595.9 | transcript | ENST00000370536.5 | protein_coding | 1/1 | 740/2085 | 711/1341 | 237/446 | chrX | TogoVar | |||
SOX5_chr12_23524504_23954670 | 23570921 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0051 | a0001c0002t0051g0070 | 1 | 208 | 0.0048 | -21 | c.134 others(40): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 10/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23570923 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG02818.hp2 HG02895.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0121 a0001c0001t0003g0153 a0001c0001t0004g0209 |
3 | 202 | 0.0149 | -21 | c.134 others(40): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 10/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23570925 | AAAAAAAT others(14): Show |
A | intron_variant | MODIFIER | NA18944.hp2 NA19088.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0019 a0001c0002t0006g0061 |
2 | 194 | 0.0103 | -21 | c.134 others(40): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 10/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23570927 | AAAAATAT others(14): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0002 | a0001c0002t0050 | a0001c0002t0050g0212 | 1 | 202 | 0.0050 | -21 | c.134 others(40): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 10/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23570929 | AAATATAT others(14): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG02723.hp2 HG02886.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0077a0001c0001t0093others(1): Show | a0001c0001t0013g0177 a0001c0001t0077g0052 a0001c0001t0093g0192 others(1): Show |
4 | 206 | 0.0194 | -21 | c.134 others(40): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 10/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23570931 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01261.hp1 HG02976.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0026a0001c0001t0031others(6): Show | a0001c0001t0015g0091 a0001c0001t0026g0012 a0001c0001t0031g0031 others(6): Show |
9 | 154 | 0.0584 | -21 | c.134 others(40): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 10/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23837230 | ATATATTT others(14): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG01243.hp2 HG01496.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0017others(2): Show | a0001c0001t0001g0150 a0001c0001t0009g0053 a0001c0001t0017g0151 others(2): Show |
5 | 210 | 0.0238 | -21 | c.481 others(38): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16132394 | GAAAGAAA others(14): Show |
G | intron_variant | MODIFIER | HG02083.hp1 HG02083.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0070 a0001c0002t0001g0163 |
2 | 205 | 0.0098 | -21 | c.778 others(40): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16132398 | GAAAAAAG others(14): Show |
G | intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 154 | 0.0065 | -21 | c.778 others(40): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16146908 | CTGTAAAC others(14): Show |
C | intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091 | 1 | 216 | 0.0046 | -21 | c.778 others(40): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16198025 | CTGTTGTT others(14): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp1 others(139): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0168 a0001c0001t0001g0172 a0001c0001t0002g0050 others(139): Show |
142 | 150 | 0.9467 | -21 | c.536 others(40): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 4/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16226314 | GTGTTTTT others(14): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp2 others(101): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0047 a0001c0001t0001g0177 a0001c0001t0001g0205 others(101): Show |
104 | 216 | 0.4815 | -21 | c.535 others(38): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 4/15 | chr11 | TogoVar | |||||||
SOX8_chr16_976770_991979 | 977430 | GCCCAGCC others(14): Show |
G | upstream_gene_variant | MODIFIER | NA19057.hp1 | a0010 | a0010c0020 | a0010c0020t0001 | a0010c0020t0001g0001 | 1 | 432 | 0.0023 | -21 | c.-44 others(32): Show |
SOX8 | ENSG00000005513.11 | transcript | ENST00000293894.4 | protein_coding | 4339 | chr16 | TogoVar | |||||||
SOX9_chr17_72116020_72131416 | 72123958 | ACAGCAGC others(14): Show |
A | disruptive_inframe_deletion | MODERATE | HG01981.hp2 HG02004.hp1 |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0002 | 2 | 400 | 0.0050 | -21 | c.111 others(30): Show |
p.Ala others(13): Show |
SOX9 | ENSG00000125398.8 | transcript | ENST00000245479.3 | protein_coding | 3/3 | 1482/3931 | 1110/1530 | 370/509 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||
SP100_chr2_230411201_230550606 | 230460592 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00558.hp1 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0005others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0014others(6): Show | a0001c0001t0002g0148 a0001c0001t0004g0098 a0001c0001t0014g0149 others(23): Show |
26 | 234 | 0.1111 | -21 | c.821 others(36): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 8/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230510473 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(38): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0009others(4): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(11): Show | a0001c0001t0002g0008 a0001c0001t0002g0009 a0001c0001t0002g0026 others(38): Show |
41 | 42 | 0.9762 | -21 | c.205 others(38): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP140L_chr2_230322193_230408732 | 230349406 | ATTTGGAA others(14): Show |
A | intron_variant | MODIFIER | NA18970.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0194 | 1 | 334 | 0.0030 | -21 | c.108 others(38): Show |
SP140L | ENSG00000185404.17 | transcript | ENST00000415673.7 | protein_coding | 2/18 | chr2 | TogoVar | |||||||
SP4_chr7_21423083_21519822 | 21440868 | ACAACAAC others(14): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(338): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(56): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(322): Show |
341 | 424 | 0.8042 | -21 | c.167 others(42): Show |
SP4 | ENSG00000105866.15 | transcript | ENST00000222584.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SP8_chr7_20777279_20791886 | 20790841 | CAAAAAAA others(14): Show |
C | upstream_gene_variant | MODIFIER | HG02895.hp1 NA18963.hp2 NA18986.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0034 |
5 | 190 | 0.0263 | -21 | c.-40 others(32): Show |
SP8 | ENSG00000164651.18 | transcript | ENST00000418710.3 | protein_coding | 3956 | chr7 | TogoVar | |||||||
SP8_chr7_20777279_20791886 | 20790861 | AAAAAAAA others(14): Show |
A | upstream_gene_variant | MODIFIER | NA18955.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 414 | 0.0024 | -21 | c.-40 others(32): Show |
SP8 | ENSG00000164651.18 | transcript | ENST00000418710.3 | protein_coding | 3976 | chr7 | TogoVar | |||||||
SP8_chr7_20777279_20791886 | 20790863 | AAAAAAAA others(14): Show |
A | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(51): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0002t0004a0001c0002t0005others(4): Show | a0001c0002t0002g0002 a0001c0002t0004g0005 a0001c0002t0005g0006 others(4): Show |
54 | 413 | 0.1308 | -21 | c.-40 others(32): Show |
SP8 | ENSG00000164651.18 | transcript | ENST00000418710.3 | protein_coding | 3978 | chr7 | TogoVar | |||||||
SPACA4_chr19_48601742_48612714 | 48602705 | ATATATAT others(14): Show |
A | upstream_gene_variant | MODIFIER | HG01261.hp1 HG01346.hp1 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 267 | 0.0112 | -21 | c.-42 others(32): Show |
SPACA4 | ENSG00000177202.3 | transcript | ENST00000321762.3 | protein_coding | 4036 | chr19 | TogoVar | |||||||
SPACA7_chr13_112371355_112439689 | 112383115 | GAAAAGAA others(14): Show |
G | intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 386 | 0.0026 | -21 | c.94+ others(36): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 1/6 | chr13 | TogoVar | |||||||
SPACA7_chr13_112371355_112439689 | 112383116 | AAAAGAAA others(14): Show |
A | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG01069.hp1 others(26): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0108 a0001c0001t0001g0112 a0001c0001t0001g0131 others(26): Show |
29 | 310 | 0.0935 | -21 | c.94+ others(36): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213342327 | GTGTATAT others(14): Show |
G | intron_variant | MODIFIER | HG00735.hp2 HG01496.hp1 HG02109.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0016 a0001c0001t0001g0025 a0001c0001t0001g0027 others(15): Show |
18 | 84 | 0.2143 | -21 | c.644 others(38): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213859178 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 39 | 0.0256 | -21 | c.107 others(40): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214126039 | CTTCCTTC others(14): Show |
C | intron_variant | MODIFIER | HG01496.hp2 NA18522.hp2 NA19086.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0042 a0001c0001t0002g0009 a0002c0002t0001g0053 |
3 | 82 | 0.0366 | -21 | c.159 others(42): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG1_chr8_100153587_100246904 | 100206017 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(156): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0003a0001c0008others(11): Show | a0001c0002t0001a0001c0002t0007a0001c0003t0001others(16): Show | a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0082 others(152): Show |
159 | 193 | 0.8238 | -21 | c.109 others(40): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPARCL1_chr4_87468335_87534376 | 87486888 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0069 | 1 | 40 | 0.0250 | -21 | c.153 others(40): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 7/10 | chr4 | TogoVar | |||||||
SPAST_chr2_32058556_32162637 | 32083731 | CTATATAT others(14): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01109.hp1 HG01261.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0066 others(17): Show |
20 | 337 | 0.0593 | -21 | c.416 others(38): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32110227 | TCCTGCTT others(14): Show |
T | intron_variant | MODIFIER | HG02723.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0059 a0001c0001t0003g0060 |
2 | 340 | 0.0059 | -21 | c.683 others(38): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32111970 | TTAGTAGT others(14): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02258.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0011 | a0001c0001t0008g0005 a0001c0001t0008g0007 a0001c0001t0008g0008 others(3): Show |
6 | 126 | 0.0476 | -21 | c.683 others(38): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATA16_chr3_172884357_173146235 | 172919018 | TTGTTCAT others(14): Show |
T | intron_variant | MODIFIER | NA18981.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0042 | 1 | 198 | 0.0051 | -21 | c.133 others(40): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 8/10 | chr3 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217704230 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0073 | 1 | 58 | 0.0172 | -21 | c.395 others(40): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA31C2_chr9_88124305_88143475 | 88137926 | CCCATCTC others(14): Show |
C | intron_variant | MODIFIER | NA19001.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 1 | 444 | 0.0023 | -21 | c.189 others(36): Show |
SPATA31C2 | ENSG00000177910.9 | transcript | ENST00000324915.6 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
SPATA31D3_chr9_81938500_81955093 | 81945273 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG01256.hp1 HG03130.hp1 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0003 | a0002c0002t0001g0032 a0002c0002t0003g0032 |
2 | 65 | 0.0308 | -21 | c.293 others(34): Show |
SPATA31D3 | ENSG00000186788.14 | transcript | ENST00000445385.3 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPATA3_chr2_230991121_231013040 | 231005115 | TCACCACC others(14): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02738.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0002 | 2 | 434 | 0.0046 | -21 | c.*11 others(40): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATA5_chr4_122918078_123324433 | 123017162 | AGGGGAGA others(14): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(113): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0004a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0031 a0001c0001t0001g0043 a0001c0001t0001g0050 others(113): Show |
116 | 260 | 0.4462 | -21 | c.187 others(42): Show |
SPATA5 | ENSG00000145375.9 | transcript | ENST00000274008.5 | protein_coding | 10/15 | chr4 | TogoVar | |||||||
SPATA6L_chr9_4593316_4671480 | 4644183 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG01884.hp2 others(17): Show |
a0001a0002a0005 | a0001c0001a0001c0006a0002c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(7): Show | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0134 others(17): Show |
20 | 64 | 0.3125 | -21 | c.227 others(38): Show |
SPATA6L | ENSG00000106686.18 | transcript | ENST00000682582.1 | protein_coding | 3/11 | chr9 | TogoVar |