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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SRGAP1_chr12_63839700_64167217 | 63919499 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03041.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0005a0001c0002t0054a0001c0003t0001 | a0001c0002t0005g0158 a0001c0002t0054g0084 a0001c0003t0001g0035 others(1): Show |
4 | 170 | 0.0235 | 8 | c.68- others(25): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 63992660 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02965.hp1 |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0045 | a0001c0002t0008g0096 a0001c0002t0045g0082 |
2 | 170 | 0.0118 | 8 | c.426 others(25): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64000239 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00639.hp1 others(13): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0125others(13): Show | a0001c0001t0003g0098 a0001c0001t0011g0149 a0001c0001t0125g0139 others(13): Show |
16 | 170 | 0.0941 | 8 | c.426 others(27): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64039628 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02056.hp1 HG03831.hp1 NA18946.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0112a0001c0002t0035a0001c0002t0041others(2): Show | a0001c0001t0112g0138 a0001c0002t0035g0029 a0001c0002t0041g0034 others(2): Show |
5 | 170 | 0.0294 | 8 | c.490 others(25): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64072106 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG03098.hp1 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0141a0001c0001t0143 | a0001c0001t0141g0012 a0001c0001t0143g0007 |
2 | 170 | 0.0118 | 8 | c.112 others(27): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64072108 | C | CTCTGTGT others(1): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0140a0001c0001t0146 | a0001c0001t0140g0092 a0001c0001t0146g0013 |
2 | 170 | 0.0118 | 8 | c.112 others(27): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64072108 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01069.hp1 others(16): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0011others(1): Show | a0001c0001t0079a0001c0001t0086a0001c0001t0108others(15): Show | a0001c0001t0079g0057 a0001c0001t0086g0102 a0001c0001t0108g0001 others(16): Show |
19 | 170 | 0.1118 | 8 | c.112 others(27): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 8/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64101308 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG02683.hp1 others(4): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0001t0068a0001c0001t0073others(4): Show | a0001c0001t0003g0098 a0001c0001t0068g0075 a0001c0001t0073g0117 others(4): Show |
7 | 170 | 0.0412 | 8 | c.181 others(27): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64118710 | C | CTTATTTA others(1): Show |
intron_variant | MODIFIER | HG02647.hp2 HG02886.hp1 HG02922.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0010a0002c0004others(1): Show | a0001c0001t0129a0001c0001t0134a0001c0001t0141others(6): Show | a0001c0001t0129g0133 a0001c0001t0134g0119 a0001c0001t0141g0012 others(6): Show |
9 | 170 | 0.0529 | 8 | c.222 others(27): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SRGAP1_chr12_63839700_64167217 | 64150934 | C | CAAAAAAA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG03017.hp1 HG03017.hp2 HG03516.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0009a0001c0001t0093a0001c0001t0121others(3): Show | a0001c0001t0009g0143 a0001c0001t0093g0033 a0001c0001t0121g0108 others(3): Show |
6 | 170 | 0.0353 | 8 | c.*82 others(19): Show |
SRGAP1 | ENSG00000196935.10 | transcript | ENST00000355086.8 | protein_coding | 22/22 | 8289 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SRGAP2B_chr1_144882288_145100328 | 144925727 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01175.hp2 HG01978.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(4): Show | a0001c0001t0001g0006 a0001c0001t0001g0024 a0001c0001t0001g0041 others(10): Show |
13 | 56 | 0.2321 | 8 | c.424 others(27): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 4/9 | chr1 | TogoVar | |||||||
SRGAP2B_chr1_144882288_145100328 | 145041075 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02135.hp1 |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0005c0008t0005 | a0001c0001t0001g0044 a0005c0008t0005g0039 |
2 | 56 | 0.0357 | 8 | c.68- others(25): Show |
SRGAP2B | ENSG00000196369.12 | transcript | ENST00000641863.3 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
SRGAP2C_chr1_121179975_121397874 | 121189096 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG03209.hp1 HG03579.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0047a0001c0001t0048 | a0001c0001t0001g0180 a0001c0001t0001g0213 a0001c0001t0001g0250 others(2): Show |
5 | 274 | 0.0183 | 8 | c.67+ others(23): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121211458 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01361.hp1 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0014 | a0001c0001t0001g0114 a0001c0001t0001g0184 a0001c0001t0001g0187 others(5): Show |
8 | 274 | 0.0292 | 8 | c.67+ others(25): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121223351 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02071.hp1 HG02135.hp1 HG02165.hp1 others(7): Show |
a0002a0007 | a0002c0002a0007c0010 | a0002c0002t0002a0002c0002t0003a0002c0002t0021others(1): Show | a0002c0002t0002g0005 a0002c0002t0002g0059 a0002c0002t0003g0069 others(7): Show |
10 | 274 | 0.0365 | 8 | c.67+ others(25): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121239281 | A | ATATACTA others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03041.hp2 HG06807.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0096 a0002c0002t0002g0099 a0002c0002t0002g0101 |
3 | 274 | 0.0110 | 8 | c.68- others(25): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | chr1 | TogoVar | |||||||
SRGAP2C_chr1_121179975_121397874 | 121249546 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG01243.hp1 HG02165.hp2 others(12): Show |
a0001a0002a0007 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0048a0001c0001t0050others(3): Show | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0133 others(12): Show |
15 | 274 | 0.0547 | 8 | c.68- others(25): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121285402 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02970.hp2 NA18970.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0040a0001c0001t0045 | a0001c0001t0001g0148 a0001c0001t0001g0191 a0001c0001t0040g0186 others(1): Show |
4 | 274 | 0.0146 | 8 | c.260 others(23): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121331144 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02165.hp2 HG02818.hp1 others(8): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0008a0001c0001t0049others(1): Show | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0109 others(8): Show |
11 | 274 | 0.0402 | 8 | c.423 others(25): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121334456 | T | TTTTGTTT others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02055.hp2 HG02630.hp1 others(3): Show |
a0002a0003a0009 | a0002c0002a0003c0004a0009c0008 | a0002c0002t0028a0002c0002t0030a0003c0004t0018others(2): Show | a0002c0002t0028g0023 a0002c0002t0030g0030 a0003c0004t0018g0001 others(3): Show |
6 | 274 | 0.0219 | 8 | c.423 others(25): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121337634 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 HG02109.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0054 | a0001c0001t0001g0111 a0001c0001t0001g0113 a0001c0001t0001g0114 others(3): Show |
6 | 274 | 0.0219 | 8 | c.423 others(27): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121351610 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00639.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0044others(3): Show | a0001c0001t0001g0120 a0001c0001t0001g0125 a0001c0001t0001g0128 others(19): Show |
22 | 274 | 0.0803 | 8 | c.424 others(27): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2C_chr1_121179975_121397874 | 121354261 | C | CCTTTCTT others(1): Show |
intron_variant | MODIFIER | HG02080.hp2 HG03225.hp1 NA19077.hp1 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0005 | a0002c0002t0003g0057 a0002c0002t0003g0092 a0002c0002t0005g0006 |
3 | 274 | 0.0110 | 8 | c.424 others(27): Show |
SRGAP2C | ENSG00000171943.12 | transcript | ENST00000367123.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206229931 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01884.hp2 HG02055.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0003t0004others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0181 a0001c0002t0002g0032 others(8): Show |
11 | 182 | 0.0604 | 8 | c.67+ others(25): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206254179 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01192.hp1 HG01934.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0038a0001c0002t0002others(5): Show | a0001c0001t0001g0002 a0001c0001t0038g0180 a0001c0002t0002g0015 others(13): Show |
16 | 182 | 0.0879 | 8 | c.67+ others(25): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206257734 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG03139.hp1 HG03195.hp1 NA18980.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0003 | a0001c0001t0001g0036 a0001c0004t0003g0043 a0001c0004t0003g0066 |
3 | 182 | 0.0165 | 8 | c.68- others(25): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206279581 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG02135.hp2 HG02622.hp2 NA18954.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0036a0001c0002t0002a0001c0003t0014others(2): Show | a0001c0001t0036g0123 a0001c0002t0002g0026 a0001c0003t0014g0168 others(2): Show |
5 | 182 | 0.0275 | 8 | c.68- others(25): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206391645 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG03041.hp1 NA21309.hp1 |
a0001 | a0001c0002a0001c0007 | a0001c0002t0005a0001c0007t0005 | a0001c0002t0005g0064 a0001c0007t0005g0138 |
2 | 182 | 0.0110 | 8 | c.487 others(25): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 5/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP2_chr1_206198541_206469436 | 206418888 | C | CTCTGTGT others(1): Show |
intron_variant | MODIFIER | HG01257.hp1 HG03710.hp1 NA19064.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0002a0001c0004t0003 | a0001c0002t0002g0027 a0001c0004t0003g0048 a0001c0004t0003g0080 |
3 | 182 | 0.0165 | 8 | c.144 others(25): Show |
SRGAP2 | ENSG00000266028.8 | transcript | ENST00000573034.8 | protein_coding | 11/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SRGAP3_chr3_8975591_9254646 | 9003479 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(122): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0021 a0001c0001t0001g0024 a0001c0001t0001g0025 others(122): Show |
125 | 228 | 0.5483 | 8 | c.222 others(27): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 18/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9008442 | G | GGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02145.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0002g0078 a0001c0001t0004g0215 a0001c0001t0005g0033 others(7): Show |
10 | 228 | 0.0439 | 8 | c.222 others(27): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 18/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9035612 | G | GGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG03139.hp2 NA19030.hp1 NA19043.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0020a0001c0001t0023a0001c0003t0053 | a0001c0001t0020g0069 a0001c0001t0023g0134 a0001c0003t0053g0205 |
3 | 228 | 0.0132 | 8 | c.143 others(27): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 11/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9064861 | T | TAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG02071.hp2 HG06807.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(2): Show | a0001c0001t0001g0104 a0001c0001t0001g0194 a0001c0001t0002g0115 others(5): Show |
8 | 228 | 0.0351 | 8 | c.487 others(23): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 4/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9075374 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02895.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0042a0001c0003t0007 | a0001c0001t0042g0185 a0001c0003t0007g0227 |
2 | 228 | 0.0088 | 8 | c.486 others(25): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 4/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9075390 | T | TGTGTGCG others(1): Show |
intron_variant | MODIFIER | HG03579.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0025 | a0001c0001t0014g0177 a0001c0001t0025g0088 |
2 | 228 | 0.0088 | 8 | c.486 others(25): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 4/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9096937 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02040.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0024 | a0001c0001t0001g0170 a0001c0001t0024g0218 |
2 | 228 | 0.0088 | 8 | c.423 others(25): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 3/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9123732 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02622.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004a0001c0017 | a0001c0001t0004a0001c0004t0002a0001c0004t0009others(1): Show | a0001c0001t0004g0077 a0001c0004t0002g0070 a0001c0004t0009g0163 others(1): Show |
4 | 228 | 0.0175 | 8 | c.260 others(23): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 2/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9126618 | A | AAACTAAC others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01175.hp1 |
a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0001 a0001c0002t0010g0002 a0001c0002t0010g0003 |
3 | 228 | 0.0132 | 8 | c.68- others(23): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9142829 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0021 a0001c0001t0001g0072 a0001c0001t0001g0174 others(14): Show |
17 | 228 | 0.0746 | 8 | c.68- others(25): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9164276 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG02622.hp2 NA19012.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0023 | a0001c0001t0002g0078 a0001c0001t0003g0106 a0001c0001t0023g0134 |
3 | 228 | 0.0132 | 8 | c.68- others(25): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRGAP3_chr3_8975591_9254646 | 9242158 | C | CCAGATGA others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02738.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0024others(3): Show | a0001c0001t0001g0214 a0001c0001t0004g0215 a0001c0001t0024g0216 others(4): Show |
7 | 228 | 0.0307 | 8 | c.67+ others(23): Show |
SRGAP3 | ENSG00000196220.17 | transcript | ENST00000383836.8 | protein_coding | 1/21 | chr3 | TogoVar | |||||||
SRGN_chr10_69083103_69109805 | 69097427 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(11): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0001a0001c0001t0003a0005c0008t0003 | a0001c0001t0001g0198 a0001c0001t0003g0034 a0001c0001t0003g0196 others(9): Show |
14 | 410 | 0.0342 | 8 | c.227 others(23): Show |
SRGN | ENSG00000122862.5 | transcript | ENST00000242465.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SRL_chr16_4184374_4247080 | 4220278 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0029 a0001c0001t0001g0048 a0001c0001t0001g0108 others(20): Show |
23 | 358 | 0.0643 | 8 | c.62- others(25): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4227051 | A | AATGGATG others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02145.hp2 others(16): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(7): Show | a0001c0001t0001g0009 a0001c0001t0001g0014 a0001c0001t0001g0277 others(16): Show |
19 | 358 | 0.0531 | 8 | c.61+ others(25): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4227056 | A | ATGGATAG others(1): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02258.hp1 HG02559.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0001g0064 a0001c0001t0001g0068 a0001c0001t0004g0067 others(15): Show |
18 | 358 | 0.0503 | 8 | c.61+ others(25): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRL_chr16_4184374_4247080 | 4227056 | A | ATGGATGG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(182): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0046 others(180): Show |
185 | 358 | 0.5168 | 8 | c.61+ others(25): Show |
SRL | ENSG00000185739.13 | transcript | ENST00000399609.7 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
SRP54_chr14_34977992_35034567 | 34981184 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG02109.hp1 HG02622.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0115 a0001c0001t0001g0141 |
3 | 396 | 0.0076 | 8 | c.-20 others(19): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 1807 | chr14 | TogoVar | |||||||
SRP54_chr14_34977992_35034567 | 34988578 | A | AAAAAATA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp1 others(55): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0006others(1): Show | a0001c0001t0003a0001c0002t0003a0002c0006t0003others(1): Show | a0001c0001t0003g0006 a0001c0001t0003g0177 a0001c0001t0003g0178 others(55): Show |
58 | 396 | 0.1465 | 8 | c.-34 others(25): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SRP54_chr14_34977992_35034567 | 34988578 | A | AAAATATA others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01081.hp1 HG01257.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0240 a0001c0001t0003g0241 a0001c0001t0003g0242 others(7): Show |
10 | 396 | 0.0253 | 8 | c.-34 others(25): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SRP54_chr14_34977992_35034567 | 34995134 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03831.hp1 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0232 a0001c0001t0003g0257 a0001c0001t0004g0048 |
3 | 396 | 0.0076 | 8 | c.-33 others(25): Show |
SRP54 | ENSG00000100883.13 | transcript | ENST00000216774.11 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |