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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SOX8_chr16_976770_991979 | 990421 | TGCTGTGT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(174): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0012others(45): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0012 others(56): Show |
177 | 434 | 0.4078 | -12 | c.*50 others(23): Show |
SOX8 | ENSG00000005513.11 | transcript | ENST00000293894.4 | protein_coding | 3443 | chr16 | TogoVar | |||||||
SP100_chr2_230411201_230550606 | 230468817 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0026 | a0001c0001t0007g0172 a0001c0001t0026g0059 |
2 | 290 | 0.0069 | -12 | c.129 others(29): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 13/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230506782 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG02922.hp2 HG06807.hp1 others(2): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0005 | a0001c0003t0006a0002c0002t0013a0002c0005t0013 | a0001c0003t0006g0046 a0002c0002t0013g0058 a0002c0005t0013g0036 others(2): Show |
5 | 290 | 0.0172 | -12 | c.201 others(29): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 22/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230508936 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG01106.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020 | a0001c0001t0002g0018 a0001c0001t0020g0125 |
2 | 290 | 0.0069 | -12 | c.205 others(29): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230510473 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0059 | 1 | 290 | 0.0035 | -12 | c.205 others(29): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 23/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230512276 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01884.hp1 HG02486.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0008a0001c0003t0008a0001c0003t0012others(2): Show | a0001c0001t0008g0038 a0001c0001t0008g0039 a0001c0001t0008g0040 others(12): Show |
15 | 290 | 0.0517 | -12 | c.209 others(31): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 24/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230546612 | GAGAGATA others(5): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(190): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0009others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(42): Show | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(190): Show |
193 | 290 | 0.6655 | -12 | c.*36 others(23): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 1007 | chr2 | TogoVar | |||||||
SP100_chr2_230411201_230550606 | 230548335 | AACATACA others(5): Show |
A | downstream_gene_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0227 | 1 | 290 | 0.0035 | -12 | c.*53 others(23): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 2730 | chr2 | TogoVar | |||||||
SP110_chr2_230160186_230224984 | 230168108 | CAAAAAAA others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00609.hp1 others(57): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0007a0002c0002others(4): Show | a0001c0001t0002a0001c0001t0025a0001c0001t0046others(8): Show | a0001c0001t0002g0017 a0001c0001t0002g0018 a0001c0001t0002g0021 others(54): Show |
60 | 428 | 0.1402 | -12 | c.*10 others(23): Show |
SP110 | ENSG00000135899.20 | transcript | ENST00000258381.11 | protein_coding | 19/19 | 1004 | chr2 | TogoVar | ||||||
SP110_chr2_230160186_230224984 | 230206595 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG01106.hp1 HG02056.hp2 HG02615.hp2 others(13): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0007a0002c0023others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0007t0009others(6): Show | a0001c0001t0001g0089 a0001c0001t0003g0053 a0001c0007t0009g0103 others(12): Show |
16 | 428 | 0.0374 | -12 | c.898 others(29): Show |
SP110 | ENSG00000135899.20 | transcript | ENST00000258381.11 | protein_coding | 8/18 | chr2 | TogoVar | |||||||
SP140L_chr2_230322193_230408732 | 230354848 | GGAAAGAA others(5): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00621.hp2 others(28): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0001c0017others(5): Show | a0001c0001t0001a0001c0004t0002a0001c0004t0008others(6): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0214 others(26): Show |
31 | 336 | 0.0923 | -12 | c.108 others(29): Show |
SP140L | ENSG00000185404.17 | transcript | ENST00000415673.7 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP140L_chr2_230322193_230408732 | 230366710 | CTATTATT others(5): Show |
C | intron_variant | MODIFIER | HG01169.hp1 HG01175.hp2 HG01243.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0251 a0001c0001t0001g0253 others(6): Show |
10 | 336 | 0.0298 | -12 | c.524 others(29): Show |
SP140L | ENSG00000185404.17 | transcript | ENST00000415673.7 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP140_chr2_230220736_230318215 | 230229456 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02818.hp1 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0014 |
3 | 370 | 0.0081 | -12 | c.59+ others(27): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP140_chr2_230220736_230318215 | 230288455 | ATCTTTCT others(5): Show |
A | intron_variant | MODIFIER | HG00741.hp1 HG01123.hp2 HG01192.hp1 others(11): Show |
a0001a0004a0005 | a0001c0001a0004c0003a0005c0007 | a0001c0001t0001a0004c0003t0001a0005c0007t0001 | a0001c0001t0001g0007 a0001c0001t0001g0063 a0001c0001t0001g0090 others(10): Show |
14 | 370 | 0.0378 | -12 | c.172 others(29): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP140_chr2_230220736_230318215 | 230288513 | CTTTCTTT others(5): Show |
C | intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 370 | 0.0027 | -12 | c.172 others(29): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP140_chr2_230220736_230318215 | 230307980 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01069.hp2 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0238 a0001c0001t0002g0248 |
2 | 370 | 0.0054 | -12 | c.205 others(31): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP1_chr12_53375176_53421446 | 53392347 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0064 | a0001c0001t0064g0160 | 1 | 326 | 0.0031 | -12 | c.167 others(31): Show |
SP1 | ENSG00000185591.10 | transcript | ENST00000327443.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SP1_chr12_53375176_53421446 | 53397579 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00597.hp1 others(95): Show |
a0001a0002a0006 | a0001c0002a0002c0004a0006c0007 | a0001c0002t0002a0001c0002t0006a0001c0002t0009others(22): Show | a0001c0002t0002g0003 a0001c0002t0002g0012 a0001c0002t0002g0013 others(92): Show |
98 | 326 | 0.3006 | -12 | c.167 others(31): Show |
SP1 | ENSG00000185591.10 | transcript | ENST00000327443.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SP3_chr2_173895775_173970373 | 173964684 | CCGGCGGC others(5): Show |
C | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0327 | 1 | 356 | 0.0028 | -12 | c.8-1 others(23): Show |
SP3 | ENSG00000172845.18 | transcript | ENST00000310015.12 | protein_coding | 1/6 | chr2 | TogoVar | |||||||
SP4_chr7_21423083_21519822 | 21440877 | ACAACAAC others(5): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0210 | 1 | 426 | 0.0024 | -12 | c.167 others(33): Show |
SP4 | ENSG00000105866.15 | transcript | ENST00000222584.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SP4_chr7_21423083_21519822 | 21442026 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0126 | 1 | 426 | 0.0024 | -12 | c.167 others(33): Show |
SP4 | ENSG00000105866.15 | transcript | ENST00000222584.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SP4_chr7_21423083_21519822 | 21445979 | CTTATGTG others(5): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0303 a0001c0001t0015g0304 |
2 | 426 | 0.0047 | -12 | c.167 others(33): Show |
SP4 | ENSG00000105866.15 | transcript | ENST00000222584.8 | protein_coding | 3/5 | chr7 | TogoVar | |||||||
SP4_chr7_21423083_21519822 | 21445982 | ATGTGTAT others(5): Show |
A | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0137 | 1 | 426 | 0.0024 | -12 | c.167 others(33): Show |
SP4 | ENSG00000105866.15 | transcript | ENST00000222584.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SP4_chr7_21423083_21519822 | 21445988 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG01069.hp2 HG01123.hp2 others(19): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0007a0001c0001t0010a0001c0001t0028others(5): Show | a0001c0001t0007g0127 a0001c0001t0007g0319 a0001c0001t0007g0320 others(19): Show |
22 | 426 | 0.0516 | -12 | c.167 others(33): Show |
SP4 | ENSG00000105866.15 | transcript | ENST00000222584.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SP7_chr12_53321575_53341354 | 53334331 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00639.hp1 others(21): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0044 others(3): Show |
24 | 370 | 0.0649 | -12 | c.21+ others(27): Show |
SP7 | ENSG00000170374.6 | transcript | ENST00000536324.4 | protein_coding | 2/2 | chr12 | TogoVar | |||||||
SP8_chr7_20777279_20791886 | 20787865 | CTTTTTTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 416 | 0.0024 | -12 | c.-10 others(23): Show |
SP8 | ENSG00000164651.18 | transcript | ENST00000418710.3 | protein_coding | 980 | chr7 | TogoVar | |||||||
SP8_chr7_20777279_20791886 | 20790841 | CAAAAAAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02056.hp2 HG04115.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0019 a0001c0002t0002g0002 |
2 | 416 | 0.0048 | -12 | c.-40 others(23): Show |
SP8 | ENSG00000164651.18 | transcript | ENST00000418710.3 | protein_coding | 3956 | chr7 | TogoVar | |||||||
SP8_chr7_20777279_20791886 | 20790872 | AAAAAAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp2 HG03942.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001 a0002c0003t0001g0003 |
2 | 416 | 0.0048 | -12 | c.-40 others(23): Show |
SP8 | ENSG00000164651.18 | transcript | ENST00000418710.3 | protein_coding | 3987 | chr7 | TogoVar | |||||||
SPACA1_chr6_88042841_88071838 | 88064727 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0058 | 1 | 328 | 0.0031 | -12 | c.731 others(27): Show |
SPACA1 | ENSG00000118434.9 | transcript | ENST00000237201.2 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SPACA4_chr19_48601742_48612714 | 48602154 | AAAAAAAA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02630.hp2 HG02818.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 392 | 0.0077 | -12 | c.-48 others(23): Show |
SPACA4 | ENSG00000177202.3 | transcript | ENST00000321762.3 | protein_coding | 4587 | chr19 | TogoVar | |||||||
SPACA4_chr19_48601742_48612714 | 48602702 | AAAATATA others(5): Show |
A | upstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 392 | 0.0026 | -12 | c.-42 others(23): Show |
SPACA4 | ENSG00000177202.3 | transcript | ENST00000321762.3 | protein_coding | 4039 | chr19 | TogoVar | |||||||
SPACA4_chr19_48601742_48612714 | 48602704 | AATATATA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(54): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0003t0001 | a0001c0001t0001g0000 a0001c0001t0004g0000 a0002c0003t0001g0000 |
57 | 392 | 0.1454 | -12 | c.-42 others(23): Show |
SPACA4 | ENSG00000177202.3 | transcript | ENST00000321762.3 | protein_coding | 4037 | chr19 | TogoVar | |||||||
SPACA4_chr19_48601742_48612714 | 48602825 | TTTATTAT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02630.hp2 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 5 | 392 | 0.0128 | -12 | c.-41 others(23): Show |
SPACA4 | ENSG00000177202.3 | transcript | ENST00000321762.3 | protein_coding | 3916 | chr19 | TogoVar | |||||||
SPACA4_chr19_48601742_48612714 | 48610398 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 392 | 0.0026 | -12 | c.*30 others(23): Show |
SPACA4 | ENSG00000177202.3 | transcript | ENST00000321762.3 | protein_coding | 2685 | chr19 | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48135275 | CTGCTTGC others(5): Show |
C | downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 312 | 0.0032 | -12 | c.*27 others(23): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2656 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48135285 | GCTTGCTT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 312 | 0.0032 | -12 | c.*27 others(23): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2666 | chrX | TogoVar | |||||||
SPACA6_chr19_51688330_51710190 | 51695026 | ACACACAC others(5): Show |
A | intron_variant | MODIFIER | HG02615.hp1 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0048 a0001c0001t0001g0049 |
2 | 416 | 0.0048 | -12 | c.292 others(27): Show |
SPACA6 | ENSG00000182310.16 | transcript | ENST00000637797.2 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPACA7_chr13_112371355_112439689 | 112383121 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG01261.hp2 HG02572.hp2 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0371 a0001c0001t0001g0377 a0001c0001t0001g0378 others(2): Show |
5 | 391 | 0.0128 | -12 | c.94+ others(27): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPACA7_chr13_112371355_112439689 | 112414388 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG00673.hp1 others(44): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0001g0259 others(44): Show |
47 | 391 | 0.1202 | -12 | c.445 others(31): Show |
SPACA7 | ENSG00000153498.12 | transcript | ENST00000283550.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPACA9_chr9_132873898_132895030 | 132881273 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0115 | 1 | 430 | 0.0023 | -12 | c.-38 others(29): Show |
SPACA9 | ENSG00000165698.16 | transcript | ENST00000356311.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPACDR_chr7_100451620_100469260 | 100458195 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02257.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0012 others(10): Show |
16 | 350 | 0.0457 | -12 | c.388 others(29): Show |
SPACDR | ENSG00000185955.5 | transcript | ENST00000332375.4 | protein_coding | 2/2 | chr7 | TogoVar | |||||||
SPAG16_chr2_213279464_214415501 | 213310319 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG00735.hp2 HG01361.hp1 others(22): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0027 a0001c0001t0001g0030 a0001c0001t0001g0037 others(22): Show |
25 | 86 | 0.2907 | -12 | c.398 others(27): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213377895 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02886.hp1 NA19087.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0025 a0002c0002t0001g0077 |
2 | 86 | 0.0233 | -12 | c.942 others(29): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213387489 | CTGGAGTG others(5): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG00735.hp1 others(78): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0013 others(78): Show |
81 | 86 | 0.9419 | -12 | c.942 others(31): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213407596 | GGAGAGAG others(5): Show |
G | intron_variant | MODIFIER | HG06807.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0051 | 1 | 86 | 0.0116 | -12 | c.942 others(31): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213426832 | TACATACA others(5): Show |
T | intron_variant | MODIFIER | HG02922.hp1 | a0009 | a0009c0008 | a0009c0008t0001 | a0009c0008t0001g0084 | 1 | 86 | 0.0116 | -12 | c.942 others(31): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213426836 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0075 | 1 | 86 | 0.0116 | -12 | c.942 others(31): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213625691 | TGTTTTTG others(5): Show |
T | intron_variant | MODIFIER | HG02015.hp1 NA19087.hp1 |
a0007a0011 | a0007c0007a0011c0009 | a0007c0007t0001a0011c0009t0001 | a0007c0007t0001g0083 a0011c0009t0001g0085 |
2 | 86 | 0.0233 | -12 | c.107 others(35): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213643346 | TTTTATAT others(5): Show |
T | intron_variant | MODIFIER | HG03490.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0060 | 1 | 86 | 0.0116 | -12 | c.107 others(35): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAG16_chr2_213279464_214415501 | 213643348 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG02647.hp2 HG03195.hp1 HG03453.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0016 a0001c0001t0001g0036 a0003c0003t0001g0041 |
3 | 86 | 0.0349 | -12 | c.107 others(35): Show |
SPAG16 | ENSG00000144451.20 | transcript | ENST00000331683.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |