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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SORCS3_chr10_104636290_105270242 | 105182230 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG02965.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0009 | a0001c0001t0002a0001c0001t0004a0001c0003t0003others(1): Show | a0001c0001t0002g0090 a0001c0001t0002g0093 a0001c0001t0004g0112 others(2): Show |
5 | 14 | 0.3571 | 9 | c.200 others(28): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORCS3_chr10_104636290_105270242 | 105207272 | T | TTTATTAT others(2): Show |
intron_variant | MODIFIER | HG01070.hp1 HG03927.hp2 |
a0001a0003 | a0001c0006a0003c0009 | a0001c0006t0004a0003c0009t0002 | a0001c0006t0004g0058 a0003c0009t0002g0096 |
2 | 39 | 0.0513 | 9 | c.226 others(28): Show |
SORCS3 | ENSG00000156395.14 | transcript | ENST00000369701.8 | protein_coding | 16/26 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SORD_chr15_45018195_45082185 | 45032239 | G | GAATATAG others(2): Show |
intron_variant | MODIFIER | HG01928.hp1 HG01978.hp2 HG02148.hp2 |
a0002 | a0002c0002 | a0002c0002t0014 | a0002c0002t0014g0029 a0002c0002t0014g0030 a0002c0002t0014g0031 |
3 | 306 | 0.0098 | 9 | c.67- others(24): Show |
SORD | ENSG00000140263.15 | transcript | ENST00000267814.14 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
SORT1_chr1_109304575_109402918 | 109375541 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02723.hp2 HG02896.hp1 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0008a0001c0003t0012others(1): Show | a0001c0003t0005g0018 a0001c0003t0008g0007 a0001c0003t0012g0153 others(4): Show |
7 | 24 | 0.2917 | 9 | c.307 others(26): Show |
SORT1 | ENSG00000134243.12 | transcript | ENST00000256637.8 | protein_coding | 1/19 | chr1 | TogoVar | |||||||
SOS1_chr2_38976549_39126051 | 39003066 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01891.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0015 | a0001c0002t0005g0004 a0001c0002t0005g0026 a0001c0002t0005g0027 others(6): Show |
9 | 168 | 0.0536 | 9 | c.279 others(28): Show |
SOS1 | ENSG00000115904.15 | transcript | ENST00000402219.8 | protein_coding | 17/22 | chr2 | TogoVar | |||||||
SOS1_chr2_38976549_39126051 | 39102204 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01361.hp1 HG01978.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0011 a0001c0001t0001g0069 a0001c0001t0001g0086 others(8): Show |
11 | 45 | 0.2444 | 9 | c.87+ others(26): Show |
SOS1 | ENSG00000115904.15 | transcript | ENST00000402219.8 | protein_coding | 1/22 | chr2 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50172419 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(79): Show |
a0001a0002 | a0001c0001a0001c0007a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0109 a0001c0001t0001g0139 others(78): Show |
82 | 130 | 0.6308 | 9 | c.106 others(28): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 8/22 | chr14 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50189331 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01975.hp1 HG02145.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0003t0001 | a0001c0001t0001g0213 a0001c0001t0001g0294 a0001c0001t0008g0229 others(4): Show |
7 | 53 | 0.1321 | 9 | c.511 others(24): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 4/22 | chr14 | TogoVar | |||||||
SOS2_chr14_50112130_50236578 | 50224883 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01070.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0124 a0001c0001t0001g0215 a0001c0001t0001g0216 others(23): Show |
26 | 71 | 0.3662 | 9 | c.87+ others(24): Show |
SOS2 | ENSG00000100485.12 | transcript | ENST00000216373.10 | protein_coding | 1/22 | chr14 | TogoVar | |||||||
SOWAHA_chr5_132808302_132821786 | 132813630 | G | GGCCGCCG others(2): Show |
disruptive_inframe_insertion | MODERATE | HG00099.hp2 HG00323.hp1 HG00544.hp1 others(60): Show |
a0002a0011 | a0002c0002a0002c0008a0002c0011others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0007others(5): Show | a0002c0002t0001g0000 a0002c0002t0002g0000 a0002c0002t0007g0000 others(5): Show |
63 | 402 | 0.1567 | 9 | c.18_ others(14): Show |
p.Ala others(9): Show |
SOWAHA | ENSG00000198944.6 | transcript | ENST00000378693.4 | protein_coding | 1/1 | 347/3485 | 27/1650 | 9/549 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
SOX5_chr12_23524504_23954670 | 23540361 | T | TATAATAA others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG02738.hp1 NA18612.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0031a0001c0001t0033a0001c0001t0078others(1): Show | a0001c0001t0031g0005 a0001c0001t0033g0065 a0001c0001t0078g0054 others(1): Show |
4 | 53 | 0.0755 | 9 | c.177 others(28): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 13/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23577192 | T | TATATATA others(2): Show |
intron_variant | MODIFIER | HG02922.hp1 HG03130.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0028a0001c0001t0112others(1): Show | a0001c0001t0003g0086 a0001c0001t0028g0203 a0001c0001t0112g0001 others(1): Show |
4 | 164 | 0.0244 | 9 | c.116 others(28): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23578117 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01981.hp1 HG02165.hp1 HG02165.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0014a0001c0001t0066others(4): Show | a0001c0001t0009g0057 a0001c0001t0014g0128 a0001c0001t0066g0048 others(7): Show |
10 | 21 | 0.4762 | 9 | c.116 others(28): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 9/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23613040 | T | TGAGTTTA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02886.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0034a0001c0001t0043others(3): Show | a0001c0001t0002g0085 a0001c0001t0034g0122 a0001c0001t0043g0149 others(3): Show |
6 | 210 | 0.0286 | 9 | c.101 others(28): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 8/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23695940 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0007a0001c0001t0016a0001c0001t0018others(4): Show | a0001c0001t0007g0023 a0001c0001t0016g0147 a0001c0001t0018g0022 others(4): Show |
7 | 86 | 0.0814 | 9 | c.811 others(28): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 6/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23715812 | A | AAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG01891.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0016others(3): Show | a0001c0001t0001g0155 a0001c0001t0007g0164 a0001c0001t0007g0165 others(4): Show |
7 | 210 | 0.0333 | 9 | c.810 others(28): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 6/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23792622 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02896.hp2 HG03710.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0018a0001c0001t0019others(2): Show | a0001c0001t0015g0102 a0001c0001t0018g0169 a0001c0001t0019g0066 others(2): Show |
5 | 18 | 0.2778 | 9 | c.482 others(28): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23837279 | T | TTATATAA others(2): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02809.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0022a0001c0001t0031 | a0001c0001t0004g0030 a0001c0001t0022g0176 a0001c0001t0031g0031 |
3 | 96 | 0.0313 | 9 | c.481 others(26): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23843554 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01433.hp2 HG03710.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0017a0001c0001t0019a0001c0001t0068others(4): Show | a0001c0001t0017g0042 a0001c0001t0019g0075 a0001c0001t0068g0060 others(4): Show |
7 | 51 | 0.1373 | 9 | c.481 others(26): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23904321 | T | TTTTGTAT others(2): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02109.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(6): Show | a0001c0001t0001g0108 a0001c0001t0012g0109 a0001c0001t0012g0111 others(7): Show |
10 | 210 | 0.0476 | 9 | c.39- others(24): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 1/14 | chr12 | TogoVar | |||||||
SOX8_chr16_976770_991979 | 981782 | T | TCGGCGGC others(2): Show |
5_prime_UTR_variant | MODIFIER | HG00621.hp2 NA18953.hp2 NA19004.hp2 |
a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0004 | 3 | 321 | 0.0093 | 9 | c.-12 others(18): Show |
SOX8 | ENSG00000005513.11 | transcript | ENST00000293894.4 | protein_coding | 1/3 | 118 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SP100_chr2_230411201_230550606 | 230481024 | T | TTGGTGGT others(2): Show |
intron_variant | MODIFIER | HG01106.hp1 HG02280.hp2 NA18906.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0002a0001c0003t0004a0002c0005t0013 | a0001c0001t0002g0175 a0001c0003t0004g0125 a0002c0005t0013g0106 |
3 | 153 | 0.0196 | 9 | c.160 others(28): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 17/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP110_chr2_230160186_230224984 | 230168917 | A | ATTTTTTT others(2): Show |
3_prime_UTR_variant | MODIFIER | HG01074.hp2 HG01192.hp2 HG01261.hp2 others(3): Show |
a0004a0012a0035 | a0004c0021a0012c0018a0012c0024others(1): Show | a0004c0021t0040a0012c0018t0041a0012c0018t0042others(3): Show | a0004c0021t0040g0075 a0012c0018t0041g0154 a0012c0018t0042g0123 others(3): Show |
6 | 197 | 0.0305 | 9 | c.*19 others(18): Show |
SP110 | ENSG00000135899.20 | transcript | ENST00000258381.11 | protein_coding | 19/19 | 206 | chr2 | TogoVar | ||||||
SP140L_chr2_230322193_230408732 | 230354881 | G | GAAAGAAA others(2): Show |
intron_variant | MODIFIER | HG03491.hp2 NA18995.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0076 a0001c0001t0001g0130 a0001c0001t0001g0150 |
3 | 272 | 0.0110 | 9 | c.108 others(26): Show |
SP140L | ENSG00000185404.17 | transcript | ENST00000415673.7 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP140L_chr2_230322193_230408732 | 230366710 | C | CTATTATT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00639.hp1 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0004t0002a0002c0002t0001others(4): Show | a0001c0001t0001g0213 a0001c0001t0001g0259 a0001c0001t0001g0265 others(20): Show |
27 | 53 | 0.5094 | 9 | c.524 others(26): Show |
SP140L | ENSG00000185404.17 | transcript | ENST00000415673.7 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP1_chr12_53375176_53421446 | 53388977 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02257.hp2 HG02723.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0028a0001c0002t0029others(4): Show | a0001c0002t0002g0194 a0001c0002t0028g0235 a0001c0002t0029g0195 others(5): Show |
8 | 232 | 0.0345 | 9 | c.167 others(28): Show |
SP1 | ENSG00000185591.10 | transcript | ENST00000327443.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SP2_chr17_47891236_47933957 | 47919825 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02818.hp2 HG02886.hp1 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0038 a0001c0004t0001g0215 a0001c0004t0001g0219 others(2): Show |
6 | 9 | 0.6667 | 9 | c.105 others(28): Show |
SP2 | ENSG00000167182.16 | transcript | ENST00000376741.5 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SP3_chr2_173895775_173970373 | 173931344 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02572.hp1 others(9): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0010a0001c0001t0076a0001c0001t0077others(3): Show | a0001c0001t0010g0091 a0001c0001t0010g0093 a0001c0001t0010g0094 others(9): Show |
12 | 239 | 0.0502 | 9 | c.164 others(30): Show |
SP3 | ENSG00000172845.18 | transcript | ENST00000310015.12 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
SP3_chr2_173895775_173970373 | 173931344 | T | TTTGTTGT others(2): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00621.hp1 HG00735.hp1 others(109): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(38): Show | a0001c0001t0005g0016 a0001c0001t0005g0017 a0001c0001t0005g0020 others(106): Show |
112 | 339 | 0.3304 | 9 | c.164 others(30): Show |
SP3 | ENSG00000172845.18 | transcript | ENST00000310015.12 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
SP3_chr2_173895775_173970373 | 173939764 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01106.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009a0001c0001t0011others(13): Show | a0001c0001t0007g0327 a0001c0001t0009g0076 a0001c0001t0011g0043 others(20): Show |
23 | 40 | 0.5750 | 9 | c.163 others(30): Show |
SP3 | ENSG00000172845.18 | transcript | ENST00000310015.12 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
SPACA4_chr19_48601742_48612714 | 48602825 | T | TTTATTAT others(2): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 HG02080.hp2 NA18998.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 85 | 0.0471 | 9 | c.-41 others(20): Show |
SPACA4 | ENSG00000177202.3 | transcript | ENST00000321762.3 | protein_coding | 3916 | chr19 | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48136572 | C | CTTTTTTT others(2): Show |
downstream_gene_variant | MODIFIER | HG01069.hp1 HG01167.hp1 HG01361.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 |
11 | 246 | 0.0447 | 9 | c.*40 others(20): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 3953 | chrX | TogoVar | |||||||
SPACA5_chrX_48001988_48014733 | 48012915 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG02622.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0009 |
6 | 22 | 0.2727 | 9 | c.*32 others(20): Show |
SPACA5 | ENSG00000171489.11 | transcript | ENST00000376940.4 | protein_coding | 3183 | chrX | TogoVar | |||||||
SPAG11B_chr8_7445603_7468542 | 7448302 | C | CAAAAAAA others(2): Show |
downstream_gene_variant | MODIFIER | HG02155.hp2 HG02723.hp2 HG03239.hp1 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0022 a0001c0001t0001g0040 a0001c0001t0001g0119 others(9): Show |
14 | 19 | 0.7368 | 9 | c.*24 others(20): Show |
SPAG11B | ENSG00000164871.18 | transcript | ENST00000398462.7 | protein_coding | 2300 | chr8 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213387431 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01496.hp1 HG02293.hp1 HG02922.hp2 others(2): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001a0003c0003t0002 | a0002c0002t0001g0001 a0002c0002t0001g0010 a0002c0002t0001g0051 others(2): Show |
5 | 11 | 0.4545 | 9 | c.942 others(28): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213833477 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01496.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0028 a0003c0003t0001g0062 |
2 | 83 | 0.0241 | 9 | c.107 others(30): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213833513 | A | ATATATAT others(2): Show |
intron_variant | MODIFIER | HG03130.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 a0001c0001t0001g0079 |
2 | 60 | 0.0333 | 9 | c.107 others(30): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 214019073 | T | TATAAAAC others(2): Show |
intron_variant | MODIFIER | HG00673.hp2 HG00735.hp2 HG01256.hp1 others(33): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(6): Show | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0013 others(33): Show |
36 | 85 | 0.4235 | 9 | c.152 others(28): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 13/15 | chr2 | TogoVar | |||||||
SPAG17_chr1_117948590_118190228 | 118062366 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00423.hp1 others(57): Show |
a0001a0002a0003others(5): Show | a0001c0004a0001c0010a0002c0002others(7): Show | a0001c0004t0001a0001c0004t0003a0001c0010t0001others(9): Show | a0001c0004t0001g0060 a0001c0004t0003g0082 a0001c0010t0001g0155 others(57): Show |
60 | 148 | 0.4054 | 9 | c.254 others(28): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 18/48 | chr1 | TogoVar | |||||||
SPAG17_chr1_117948590_118190228 | 118109556 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG02572.hp1 HG03139.hp2 HG03540.hp1 others(1): Show |
a0002a0012a0025 | a0002c0002a0012c0014a0025c0031 | a0002c0002t0001a0012c0014t0001a0025c0031t0002 | a0002c0002t0001g0045 a0012c0014t0001g0008 a0012c0014t0001g0009 others(1): Show |
4 | 32 | 0.1250 | 9 | c.447 others(26): Show |
SPAG17 | ENSG00000155761.14 | transcript | ENST00000336338.10 | protein_coding | 4/48 | chr1 | TogoVar | |||||||
SPAG1_chr8_100153587_100246904 | 100213013 | C | CCCGCGGC others(2): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(238): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0003a0001c0008others(18): Show | a0001c0002t0001a0001c0002t0007a0001c0003t0001others(25): Show | a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0082 others(234): Show |
241 | 346 | 0.6965 | 9 | c.109 others(24): Show |
SPAG1 | ENSG00000104450.13 | transcript | ENST00000388798.7 | protein_coding | 10/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
SPAG4_chr20_35610829_35626094 | 35615424 | A | AGAAAGAA others(2): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG03209.hp1 HG03927.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0018 |
5 | 119 | 0.0420 | 9 | c.-58 others(18): Show |
SPAG4 | ENSG00000061656.11 | transcript | ENST00000374273.8 | protein_coding | 404 | chr20 | TogoVar | |||||||
SPAG6_chr10_22340496_22422610 | 22346430 | G | GTTCTTCT others(2): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01074.hp1 HG01074.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0033 a0001c0001t0001g0034 others(8): Show |
12 | 68 | 0.1765 | 9 | c.121 others(24): Show |
SPAG6 | ENSG00000077327.16 | transcript | ENST00000376624.8 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SPAG9_chr17_50957174_51125868 | 51022943 | A | AAATAATA others(2): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(60): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0194 a0001c0001t0001g0203 a0001c0001t0001g0205 others(60): Show |
63 | 210 | 0.3000 | 9 | c.784 others(26): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 6/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51066567 | G | GAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01175.hp1 HG01243.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0057 a0001c0001t0001g0065 a0001c0001t0001g0209 others(5): Show |
8 | 100 | 0.0800 | 9 | c.425 others(28): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 2/29 | chr17 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87484346 | T | TCCCCATT others(2): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00639.hp1 others(80): Show |
a0003a0004a0006others(1): Show | a0003c0004a0003c0011a0004c0005others(3): Show | a0003c0004t0001a0003c0004t0002a0003c0004t0003others(10): Show | a0003c0004t0001g0008 a0003c0004t0001g0023 a0003c0004t0001g0081 others(77): Show |
83 | 388 | 0.2139 | 9 | c.153 others(28): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 7/10 | chr4 | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87486888 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01361.hp2 HG01496.hp2 others(3): Show |
a0001a0003 | a0001c0003a0003c0004 | a0001c0003t0001a0003c0004t0001 | a0001c0003t0001g0131 a0001c0003t0001g0181 a0001c0003t0001g0183 others(3): Show |
6 | 45 | 0.1333 | 9 | c.153 others(28): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 7/10 | chr4 | TogoVar | |||||||
SPAST_chr2_32058556_32162637 | 32081781 | C | CAAAAAAA others(2): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02615.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0101 a0001c0001t0003g0015 a0001c0001t0003g0021 others(8): Show |
11 | 134 | 0.0821 | 9 | c.416 others(26): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32111970 | T | TTAGTAGT others(2): Show |
intron_variant | MODIFIER | HG00609.hp1 HG01168.hp2 HG01169.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0101 a0001c0001t0001g0171 a0001c0001t0003g0011 others(16): Show |
19 | 139 | 0.1367 | 9 | c.683 others(26): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32150951 | C | CTTTTTTT others(2): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp1 others(174): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0040 others(174): Show |
177 | 331 | 0.5347 | 9 | c.172 others(28): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |