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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SOX5_chr12_23524504_23954670 | 23715292 | C | CAAAATAA others(13): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02300.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0009others(5): Show | a0001c0001t0004g0030 a0001c0001t0004g0148 a0001c0001t0007g0023 others(8): Show |
11 | 212 | 0.0519 | 20 | c.810 others(39): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 6/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23726118 | C | CGAGAGAG others(13): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0005 | 1 | 212 | 0.0047 | 20 | c.810 others(37): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 6/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23759012 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0204 | 1 | 212 | 0.0047 | 20 | c.482 others(37): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX5_chr12_23524504_23954670 | 23759018 | C | CACACACA others(13): Show |
intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0003 | 1 | 212 | 0.0047 | 20 | c.482 others(37): Show |
SOX5 | ENSG00000134532.20 | transcript | ENST00000451604.7 | protein_coding | 3/14 | chr12 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 15979042 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01069.hp1 HG01106.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0003g0002 a0001c0001t0004g0016 a0001c0001t0004g0112 others(12): Show |
15 | 218 | 0.0688 | 20 | c.218 others(39): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 15/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16022331 | T | TTTCCTTC others(13): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02258.hp2 HG02735.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0022 a0001c0001t0003g0021 a0001c0001t0003g0031 others(3): Show |
6 | 218 | 0.0275 | 20 | c.162 others(39): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 12/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16022373 | T | TCCTTCCT others(13): Show |
intron_variant | MODIFIER | HG02027.hp1 HG03225.hp1 NA18948.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0003t0002 | a0001c0001t0002g0096 a0001c0001t0002g0101 a0001c0001t0002g0102 others(6): Show |
9 | 218 | 0.0413 | 20 | c.162 others(39): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 12/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16125816 | T | TAGGAAGG others(13): Show |
intron_variant | MODIFIER | HG02027.hp2 HG02258.hp1 HG02622.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0003g0177 a0001c0001t0004g0137 a0001c0001t0005g0091 others(5): Show |
8 | 218 | 0.0367 | 20 | c.778 others(39): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16132444 | A | AAAAGAAA others(13): Show |
intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0165 | 1 | 218 | 0.0046 | 20 | c.778 others(39): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16283089 | G | GTATATAT others(13): Show |
intron_variant | MODIFIER | HG01256.hp1 HG02818.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(1): Show | a0001c0001t0001g0022 a0001c0001t0003g0121 a0001c0001t0003g0123 others(2): Show |
5 | 218 | 0.0229 | 20 | c.445 others(39): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 3/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16349674 | G | GAGGGAGG others(13): Show |
intron_variant | MODIFIER | HG02615.hp1 NA19062.hp1 NA19090.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0024a0001c0002t0033 | a0001c0001t0002g0105 a0001c0001t0024g0104 a0001c0002t0033g0120 |
3 | 218 | 0.0138 | 20 | c.-5+ others(35): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16349715 | A | AGGAAGGA others(13): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0045 | 1 | 218 | 0.0046 | 20 | c.-5+ others(35): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
SOX8_chr16_976770_991979 | 981303 | T | TGAGAGAG others(13): Show |
upstream_gene_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0003 | 1 | 434 | 0.0023 | 20 | c.-62 others(29): Show |
SOX8 | ENSG00000005513.11 | transcript | ENST00000293894.4 | protein_coding | 466 | chr16 | TogoVar | |||||||
SOX8_chr16_976770_991979 | 981347 | A | AGAGAGAG others(13): Show |
upstream_gene_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 434 | 0.0023 | 20 | c.-57 others(29): Show |
SOX8 | ENSG00000005513.11 | transcript | ENST00000293894.4 | protein_coding | 422 | chr16 | TogoVar | |||||||
SP100_chr2_230411201_230550606 | 230421504 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0046 | 1 | 290 | 0.0035 | 20 | c.107 others(37): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230436866 | G | GTATATGT others(13): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0270 | 1 | 290 | 0.0035 | 20 | c.108 others(37): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230436899 | C | CACACACG others(13): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG01081.hp2 others(59): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0002g0065 a0001c0001t0002g0071 a0001c0001t0002g0104 others(59): Show |
62 | 290 | 0.2138 | 20 | c.108 others(37): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230497488 | G | GGAGGAGA others(13): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02723.hp2 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0004a0003c0004t0004 | a0001c0001t0004g0048 a0003c0004t0004g0103 |
2 | 290 | 0.0069 | 20 | c.164 others(37): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230497534 | G | GAGGAAAG others(13): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0255 | 1 | 290 | 0.0035 | 20 | c.164 others(37): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230497539 | G | GAGGAAAG others(13): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 |
a0003 | a0003c0004 | a0003c0004t0003 | a0003c0004t0003g0115 a0003c0004t0003g0132 |
2 | 290 | 0.0069 | 20 | c.164 others(37): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 18/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230546455 | C | CATATATA others(13): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 HG02647.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0087 a0001c0001t0006g0089 a0001c0001t0006g0096 others(1): Show |
4 | 290 | 0.0138 | 20 | c.*35 others(31): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 850 | chr2 | TogoVar | |||||||
SP110_chr2_230160186_230224984 | 230202014 | T | TGAATGCA others(13): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0008 | a0008c0011 | a0008c0011t0006 | a0008c0011t0006g0303 | 1 | 428 | 0.0023 | 20 | c.104 others(37): Show |
SP110 | ENSG00000135899.20 | transcript | ENST00000258381.11 | protein_coding | 9/18 | chr2 | TogoVar | |||||||
SP110_chr2_230160186_230224984 | 230206595 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01516.hp1 HG02135.hp2 others(9): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0006a0006c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(5): Show | a0001c0001t0001g0061 a0001c0001t0001g0101 a0001c0001t0001g0206 others(9): Show |
12 | 428 | 0.0280 | 20 | c.898 others(37): Show |
SP110 | ENSG00000135899.20 | transcript | ENST00000258381.11 | protein_coding | 8/18 | chr2 | TogoVar | |||||||
SP110_chr2_230160186_230224984 | 230224430 | G | GGAGGGAG others(13): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 HG02615.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0007 | a0001c0007t0009 | a0001c0007t0009g0207 a0001c0007t0009g0208 a0001c0007t0009g0209 others(1): Show |
4 | 428 | 0.0094 | 20 | c.-45 others(31): Show |
SP110 | ENSG00000135899.20 | transcript | ENST00000258381.11 | protein_coding | 4447 | chr2 | TogoVar | |||||||
SP140L_chr2_230322193_230408732 | 230354848 | G | GGAAAGAA others(13): Show |
intron_variant | MODIFIER | HG03130.hp1 NA18970.hp1 |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0004a0002c0002t0001 | a0001c0004t0004g0244 a0002c0002t0001g0315 |
2 | 336 | 0.0060 | 20 | c.108 others(37): Show |
SP140L | ENSG00000185404.17 | transcript | ENST00000415673.7 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP140_chr2_230220736_230318215 | 230224430 | G | GGAGGGAG others(13): Show |
upstream_gene_variant | MODIFIER | HG01106.hp2 HG02615.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0015 |
4 | 370 | 0.0108 | 20 | c.-14 others(31): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 1305 | chr2 | TogoVar | |||||||
SP140_chr2_230220736_230318215 | 230259771 | C | CATATATA others(13): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG01106.hp1 others(12): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0004a0004c0003others(3): Show | a0001c0001t0001a0003c0004t0003a0004c0003t0001others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0194 a0001c0001t0001g0291 others(10): Show |
15 | 370 | 0.0405 | 20 | c.124 others(39): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 12/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP140_chr2_230220736_230318215 | 230288455 | A | ATCTTTCT others(13): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 |
a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0310 a0004c0003t0001g0321 |
2 | 370 | 0.0054 | 20 | c.172 others(37): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP140_chr2_230220736_230318215 | 230307990 | T | TATATATA others(13): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01169.hp1 HG01346.hp2 |
a0001a0003 | a0001c0006a0003c0004 | a0001c0006t0001a0003c0004t0003 | a0001c0006t0001g0025 a0003c0004t0003g0030 a0003c0004t0003g0032 |
3 | 370 | 0.0081 | 20 | c.205 others(39): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP3_chr2_173895775_173970373 | 173933638 | T | TTATATAT others(13): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02451.hp2 HG02630.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0087others(3): Show | a0001c0001t0003g0279 a0001c0001t0003g0280 a0001c0001t0005g0017 others(8): Show |
11 | 356 | 0.0309 | 20 | c.164 others(41): Show |
SP3 | ENSG00000172845.18 | transcript | ENST00000310015.12 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
SP3_chr2_173895775_173970373 | 173939764 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02809.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0007a0001c0004t0007 | a0001c0001t0007g0133 a0001c0004t0007g0317 |
2 | 356 | 0.0056 | 20 | c.163 others(41): Show |
SP3 | ENSG00000172845.18 | transcript | ENST00000310015.12 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
SP4_chr7_21423083_21519822 | 21487335 | C | CCTCTCTC others(13): Show |
intron_variant | MODIFIER | HG02559.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0277 a0001c0001t0028g0278 |
2 | 426 | 0.0047 | 20 | c.210 others(39): Show |
SP4 | ENSG00000105866.15 | transcript | ENST00000222584.8 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SP5_chr2_170710337_170723078 | 170714944 | A | AGTGTGTG others(13): Show |
upstream_gene_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0001 | a0002c0001t0004 | a0002c0001t0004g0001 | 1 | 452 | 0.0022 | 20 | c.-56 others(29): Show |
SP5 | ENSG00000204335.4 | transcript | ENST00000375281.4 | protein_coding | 392 | chr2 | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48135277 | G | GCTTTCTT others(13): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 312 | 0.0032 | 20 | c.*27 others(31): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2658 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48135281 | G | GCTTTCTT others(13): Show |
downstream_gene_variant | MODIFIER | NA18955.hp1 NA19079.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0001 a0001c0003t0001g0001 |
2 | 312 | 0.0064 | 20 | c.*27 others(31): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2662 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48135285 | G | GCTTTCTT others(13): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG02004.hp1 HG02004.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 |
5 | 312 | 0.0160 | 20 | c.*27 others(31): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2666 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48135289 | G | GCTTTCTT others(13): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00673.hp1 HG02155.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 3 | 312 | 0.0096 | 20 | c.*27 others(31): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2670 | chrX | TogoVar | |||||||
SPACA5_chrX_48001988_48014733 | 48012915 | C | CAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 |
2 | 292 | 0.0069 | 20 | c.*32 others(31): Show |
SPACA5 | ENSG00000171489.11 | transcript | ENST00000376940.4 | protein_coding | 3183 | chrX | TogoVar | |||||||
SPACA5_chrX_48001988_48014733 | 48013031 | G | GCTTGCTT others(13): Show |
downstream_gene_variant | MODIFIER | HG02630.hp1 HG02717.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0011 |
2 | 292 | 0.0069 | 20 | c.*33 others(31): Show |
SPACA5 | ENSG00000171489.11 | transcript | ENST00000376940.4 | protein_coding | 3299 | chrX | TogoVar | |||||||
SPACA5_chrX_48001988_48014733 | 48013031 | G | GCTTGCTT others(13): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 HG01168.hp2 HG04199.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 3 | 292 | 0.0103 | 20 | c.*33 others(31): Show |
SPACA5 | ENSG00000171489.11 | transcript | ENST00000376940.4 | protein_coding | 3299 | chrX | TogoVar | |||||||
SPACA7_chr13_112371355_112439689 | 112383026 | A | AAGAGAGA others(13): Show |
intron_variant | MODIFIER | HG02257.hp1 HG02976.hp1 HG03486.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0343 a0001c0001t0001g0344 a0001c0001t0001g0346 others(2): Show |
5 | 391 | 0.0128 | 20 | c.94+ others(35): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPACDR_chr7_100451620_100469260 | 100457803 | A | ATGTGTGT others(13): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01074.hp2 HG01192.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0058 a0001c0001t0001g0061 others(10): Show |
14 | 350 | 0.0400 | 20 | c.388 others(35): Show |
SPACDR | ENSG00000185955.5 | transcript | ENST00000332375.4 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
SPACDR_chr7_100451620_100469260 | 100457841 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 350 | 0.0029 | 20 | c.388 others(35): Show |
SPACDR | ENSG00000185955.5 | transcript | ENST00000332375.4 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
SPACDR_chr7_100451620_100469260 | 100457841 | G | GTGTGTGT others(13): Show |
intron_variant | MODIFIER | HG02004.hp1 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 2 | 350 | 0.0057 | 20 | c.388 others(35): Show |
SPACDR | ENSG00000185955.5 | transcript | ENST00000332375.4 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
SPAG11A_chr8_7843008_7865943 | 7863213 | A | ATTTTTTT others(13): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0005 | a0005c0004 | a0005c0004t0001 | a0005c0004t0001g0078 | 1 | 131 | 0.0076 | 20 | c.*23 others(31): Show |
SPAG11A | ENSG00000178287.18 | transcript | ENST00000642566.2 | protein_coding | 2271 | chr8 | TogoVar | |||||||
SPAG11B_chr8_7445603_7468542 | 7448302 | C | CAAAAAAA others(13): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0104 | 1 | 205 | 0.0049 | 20 | c.*23 others(31): Show |
SPAG11B | ENSG00000164871.18 | transcript | ENST00000398462.7 | protein_coding | 2300 | chr8 | TogoVar | |||||||
SPAG11B_chr8_7445603_7468542 | 7448786 | C | CCCCTTCC others(13): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG01069.hp2 HG01074.hp1 others(35): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0001 a0002c0002t0001g0004 a0002c0002t0001g0011 others(20): Show |
38 | 205 | 0.1854 | 20 | c.*19 others(31): Show |
SPAG11B | ENSG00000164871.18 | transcript | ENST00000398462.7 | protein_coding | 1816 | chr8 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213387431 | C | CTTTTTTT others(13): Show |
intron_variant | MODIFIER | HG02976.hp1 HG03239.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013 a0001c0001t0002g0001 |
2 | 86 | 0.0233 | 20 | c.942 others(39): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213642820 | C | CAAAAAAA others(13): Show |
intron_variant | MODIFIER | HG00673.hp1 HG03831.hp2 NA18977.hp1 |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0030 a0002c0002t0001g0049 a0003c0003t0001g0046 |
3 | 86 | 0.0349 | 20 | c.107 others(43): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213715222 | G | GTCTATCT others(13): Show |
intron_variant | MODIFIER | HG01516.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0038 | 1 | 86 | 0.0116 | 20 | c.107 others(43): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |