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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SOX6_chr11_15961449_16361546 | 16063496 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02615.hp1 NA18947.hp1 |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0033 | a0001c0002t0003g0133 a0001c0002t0003g0191 a0001c0002t0033g0120 |
3 | 218 | 0.0138 | 8 | c.110 others(27): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 9/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16120561 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02818.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0022 a0001c0001t0003g0005 a0001c0001t0003g0031 |
3 | 218 | 0.0138 | 8 | c.778 others(25): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16120581 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01069.hp1 HG01167.hp2 others(40): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0167 a0001c0001t0001g0168 a0001c0001t0002g0052 others(40): Show |
43 | 218 | 0.1973 | 8 | c.778 others(25): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16125816 | T | TAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG01978.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0002g0076 a0001c0001t0002g0078 a0001c0001t0002g0081 others(26): Show |
29 | 218 | 0.1330 | 8 | c.778 others(27): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16132444 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03041.hp1 NA18977.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0009 | a0001c0002t0001g0159 a0001c0002t0003g0116 a0001c0002t0009g0030 |
3 | 218 | 0.0138 | 8 | c.778 others(27): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16132497 | A | AAAGCAAG others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0044 | a0001c0001t0001g0061 a0001c0001t0001g0204 a0001c0001t0044g0218 |
3 | 218 | 0.0138 | 8 | c.778 others(27): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16132505 | A | AAAGCAAG others(1): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 NA18998.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0003a0001c0002t0011 | a0001c0001t0006g0126 a0001c0002t0003g0040 a0001c0002t0003g0041 others(1): Show |
4 | 218 | 0.0184 | 8 | c.778 others(27): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16139951 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02630.hp2 HG02818.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0034 a0001c0001t0009g0038 a0001c0001t0009g0039 |
3 | 218 | 0.0138 | 8 | c.778 others(27): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16177621 | A | ATCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG01069.hp2 others(43): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0002t0003a0001c0002t0004others(14): Show | a0001c0002t0001g0024 a0001c0002t0001g0054 a0001c0002t0001g0060 others(43): Show |
46 | 218 | 0.2110 | 8 | c.777 others(25): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 6/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16240275 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG01069.hp1 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0079 a0001c0001t0002g0083 a0001c0001t0002g0144 others(31): Show |
34 | 218 | 0.1560 | 8 | c.446 others(25): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 3/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16259945 | A | ATATGTGT others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG01175.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0013others(4): Show | a0001c0001t0002g0131 a0001c0001t0002g0151 a0001c0001t0003g0021 others(13): Show |
16 | 218 | 0.0734 | 8 | c.446 others(27): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 3/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16270654 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00544.hp2 others(113): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0043 others(113): Show |
116 | 218 | 0.5321 | 8 | c.446 others(27): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 3/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16283089 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01069.hp1 HG01167.hp2 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0002g0052 a0001c0001t0002g0070 a0001c0001t0002g0078 others(58): Show |
61 | 218 | 0.2798 | 8 | c.445 others(27): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 3/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16287296 | T | TCACACAC others(1): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG03195.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0003 | a0001c0001t0005g0042 a0001c0002t0003g0040 a0001c0002t0003g0041 |
3 | 218 | 0.0138 | 8 | c.445 others(27): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 3/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16349674 | G | GAGGGAGG others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01978.hp1 HG02040.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0002g0148 a0001c0001t0002g0151 a0001c0001t0002g0186 others(7): Show |
10 | 218 | 0.0459 | 8 | c.-5+ others(23): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16349715 | A | AGAAGGAA others(1): Show |
intron_variant | MODIFIER | HG01169.hp2 HG01433.hp2 HG01943.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0168 a0001c0001t0002g0067 a0001c0001t0002g0068 others(3): Show |
6 | 218 | 0.0275 | 8 | c.-5+ others(23): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
SOX6_chr11_15961449_16361546 | 16352250 | T | TGATGGAT others(1): Show |
intron_variant | MODIFIER | HG02965.hp1 NA18948.hp1 NA19060.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0026a0001c0002t0003 | a0001c0001t0002g0208 a0001c0001t0026g0207 a0001c0002t0003g0213 |
3 | 218 | 0.0138 | 8 | c.-5+ others(23): Show |
SOX6 | ENSG00000110693.19 | transcript | ENST00000683767.1 | protein_coding | 1/15 | chr11 | TogoVar | |||||||
SOX7_chr8_10718768_10735511 | 10735243 | T | TCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG01346.hp1 HG01496.hp2 HG02056.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0008a0001c0001t0012a0001c0002t0001others(4): Show | a0001c0001t0008g0016 a0001c0001t0012g0019 a0001c0002t0001g0041 others(9): Show |
19 | 462 | 0.0411 | 8 | c.-48 others(19): Show |
SOX7 | ENSG00000171056.8 | transcript | ENST00000304501.2 | protein_coding | 4733 | chr8 | TogoVar | |||||||
SOX7_chr8_10718768_10735511 | 10735243 | T | TCTCACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 HG02622.hp2 HG03453.hp1 others(1): Show |
a0001a0005 | a0001c0001a0001c0002a0005c0017 | a0001c0001t0001a0001c0002t0021a0005c0017t0001 | a0001c0001t0001g0002 a0001c0001t0001g0102 a0001c0002t0021g0142 others(1): Show |
4 | 462 | 0.0087 | 8 | c.-48 others(19): Show |
SOX7 | ENSG00000171056.8 | transcript | ENST00000304501.2 | protein_coding | 4733 | chr8 | TogoVar | |||||||
SOX8_chr16_976770_991979 | 981303 | T | TGAGAGAG others(1): Show |
upstream_gene_variant | MODIFIER | HG01496.hp1 HG02040.hp1 NA18960.hp2 |
a0001a0015 | a0001c0001a0015c0017 | a0001c0001t0001a0001c0001t0030a0015c0017t0001 | a0001c0001t0001g0001 a0001c0001t0030g0001 a0015c0017t0001g0001 |
3 | 434 | 0.0069 | 8 | c.-62 others(17): Show |
SOX8 | ENSG00000005513.11 | transcript | ENST00000293894.4 | protein_coding | 466 | chr16 | TogoVar | |||||||
SOX8_chr16_976770_991979 | 981345 | A | AAAGAGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG02300.hp2 HG03130.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0005 | 3 | 434 | 0.0069 | 8 | c.-57 others(17): Show |
SOX8 | ENSG00000005513.11 | transcript | ENST00000293894.4 | protein_coding | 424 | chr16 | TogoVar | |||||||
SP100_chr2_230411201_230550606 | 230421504 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG01123.hp1 others(31): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0009others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(12): Show | a0001c0001t0002g0065 a0001c0001t0002g0066 a0001c0001t0002g0070 others(31): Show |
34 | 290 | 0.1172 | 8 | c.107 others(25): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230436925 | C | CACATATA others(1): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02559.hp2 HG02809.hp2 |
a0001a0002 | a0001c0003a0002c0005 | a0001c0003t0008a0002c0005t0001 | a0001c0003t0008g0255 a0001c0003t0008g0256 a0002c0005t0001g0257 |
3 | 290 | 0.0103 | 8 | c.108 others(25): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230438639 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02257.hp2 HG02258.hp1 others(7): Show |
a0001a0002a0009 | a0001c0003a0002c0002a0002c0005others(2): Show | a0001c0003t0008a0001c0003t0012a0002c0002t0001others(3): Show | a0001c0003t0008g0255 a0001c0003t0008g0256 a0001c0003t0012g0041 others(7): Show |
10 | 290 | 0.0345 | 8 | c.108 others(25): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230438639 | G | GTGTATAT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG01123.hp1 others(21): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0002g0066 a0001c0001t0002g0070 a0001c0001t0002g0071 others(21): Show |
24 | 290 | 0.0828 | 8 | c.108 others(25): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230438648 | T | TATATACA others(1): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01074.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0017others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0002others(4): Show | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(12): Show |
15 | 290 | 0.0517 | 8 | c.108 others(25): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 2/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230501655 | G | GAGGAGTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(98): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0009others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0002g0005 a0001c0001t0002g0006 a0001c0001t0002g0007 others(98): Show |
101 | 290 | 0.3483 | 8 | c.172 others(27): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 19/28 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP100_chr2_230411201_230550606 | 230546475 | C | CACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp1 NA18906.hp1 others(1): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0002a0005c0008t0002 | a0001c0001t0002g0101 a0001c0001t0002g0174 a0005c0008t0002g0121 others(1): Show |
4 | 290 | 0.0138 | 8 | c.*35 others(19): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 870 | chr2 | TogoVar | |||||||
SP100_chr2_230411201_230550606 | 230546477 | C | CACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(96): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0009others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0002g0104 a0001c0001t0003g0028 a0001c0001t0003g0055 others(96): Show |
99 | 290 | 0.3414 | 8 | c.*35 others(19): Show |
SP100 | ENSG00000067066.17 | transcript | ENST00000340126.9 | protein_coding | 872 | chr2 | TogoVar | |||||||
SP110_chr2_230160186_230224984 | 230175945 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 HG01074.hp1 others(11): Show |
a0011a0016a0026others(2): Show | a0011c0014a0011c0049a0016c0017others(3): Show | a0011c0014t0008a0011c0049t0055a0016c0017t0008others(4): Show | a0011c0014t0008g0117 a0011c0014t0008g0356 a0011c0014t0008g0357 others(10): Show |
14 | 428 | 0.0327 | 8 | c.159 others(27): Show |
SP110 | ENSG00000135899.20 | transcript | ENST00000258381.11 | protein_coding | 14/18 | chr2 | TogoVar | |||||||
SP110_chr2_230160186_230224984 | 230206595 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG01891.hp2 HG01943.hp2 others(7): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0003a0006c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(6): Show | a0001c0001t0001g0212 a0001c0001t0002g0067 a0001c0001t0018g0090 others(6): Show |
10 | 428 | 0.0234 | 8 | c.898 others(25): Show |
SP110 | ENSG00000135899.20 | transcript | ENST00000258381.11 | protein_coding | 8/18 | chr2 | TogoVar | |||||||
SP140L_chr2_230322193_230408732 | 230354848 | G | GGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(28): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(6): Show | a0001c0001t0001a0001c0004t0002a0002c0002t0001others(7): Show | a0001c0001t0001g0068 a0001c0001t0001g0178 a0001c0001t0001g0247 others(28): Show |
31 | 336 | 0.0923 | 8 | c.108 others(25): Show |
SP140L | ENSG00000185404.17 | transcript | ENST00000415673.7 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP140L_chr2_230322193_230408732 | 230366710 | C | CATTATTA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02145.hp1 HG02257.hp2 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0002c0002others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0004others(5): Show | a0001c0001t0001g0037 a0001c0001t0001g0074 a0001c0001t0001g0125 others(15): Show |
18 | 336 | 0.0536 | 8 | c.524 others(25): Show |
SP140L | ENSG00000185404.17 | transcript | ENST00000415673.7 | protein_coding | 5/18 | chr2 | TogoVar | |||||||
SP140_chr2_230220736_230318215 | 230288455 | A | ATCTTTCT others(1): Show |
intron_variant | MODIFIER | HG01123.hp1 HG01433.hp2 HG01981.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0008a0003c0004others(1): Show | a0001c0001t0001a0002c0008t0001a0003c0004t0003others(1): Show | a0001c0001t0001g0042 a0001c0001t0001g0065 a0001c0001t0001g0067 others(12): Show |
15 | 370 | 0.0405 | 8 | c.172 others(25): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP140_chr2_230220736_230318215 | 230307955 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG02572.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0040 a0001c0001t0001g0274 a0001c0001t0001g0291 others(4): Show |
7 | 370 | 0.0189 | 8 | c.205 others(27): Show |
SP140 | ENSG00000079263.19 | transcript | ENST00000392045.8 | protein_coding | 22/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SP1_chr12_53375176_53421446 | 53388977 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00597.hp1 others(83): Show |
a0001a0002a0004others(1): Show | a0001c0002a0002c0004a0004c0005others(1): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0009others(16): Show | a0001c0002t0002g0003 a0001c0002t0002g0012 a0001c0002t0002g0013 others(80): Show |
86 | 326 | 0.2638 | 8 | c.167 others(27): Show |
SP1 | ENSG00000185591.10 | transcript | ENST00000327443.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SP1_chr12_53375176_53421446 | 53405697 | A | AGGAAGGA others(1): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01884.hp2 others(34): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0005a0001c0001t0010a0001c0001t0025others(15): Show | a0001c0001t0005g0015 a0001c0001t0005g0187 a0001c0001t0005g0273 others(34): Show |
37 | 326 | 0.1135 | 8 | c.167 others(25): Show |
SP1 | ENSG00000185591.10 | transcript | ENST00000327443.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SP3_chr2_173895775_173970373 | 173933638 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG00642.hp1 HG00741.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0009a0002c0002 | a0001c0001t0004a0001c0001t0015a0001c0001t0016others(9): Show | a0001c0001t0004g0154 a0001c0001t0015g0306 a0001c0001t0015g0311 others(15): Show |
18 | 356 | 0.0506 | 8 | c.164 others(29): Show |
SP3 | ENSG00000172845.18 | transcript | ENST00000310015.12 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
SP3_chr2_173895775_173970373 | 173939764 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG01433.hp2 others(10): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0009a0001c0001t0011a0001c0001t0035others(3): Show | a0001c0001t0009g0001 a0001c0001t0009g0082 a0001c0001t0009g0084 others(8): Show |
13 | 356 | 0.0365 | 8 | c.163 others(29): Show |
SP3 | ENSG00000172845.18 | transcript | ENST00000310015.12 | protein_coding | 4/6 | chr2 | TogoVar | |||||||
SP5_chr2_170710337_170723078 | 170714944 | A | AGTGTGTG others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00673.hp1 others(36): Show |
a0002a0008 | a0002c0001a0002c0005a0002c0011others(1): Show | a0002c0001t0001a0002c0001t0003a0002c0001t0006others(3): Show | a0002c0001t0001g0001 a0002c0001t0003g0001 a0002c0001t0006g0001 others(3): Show |
39 | 452 | 0.0863 | 8 | c.-56 others(17): Show |
SP5 | ENSG00000204335.4 | transcript | ENST00000375281.4 | protein_coding | 392 | chr2 | TogoVar | |||||||
SP7_chr12_53321575_53341354 | 53334331 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02055.hp1 NA19072.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 a0001c0001t0001g0114 a0001c0001t0001g0115 |
3 | 370 | 0.0081 | 8 | c.21+ others(23): Show |
SP7 | ENSG00000170374.6 | transcript | ENST00000536324.4 | protein_coding | 2/2 | chr12 | TogoVar | |||||||
SPACA3_chr17_32986847_33002877 | 32997312 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG02145.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0065 a0001c0001t0001g0202 |
4 | 470 | 0.0085 | 8 | c.503 others(23): Show |
SPACA3 | ENSG00000141316.13 | transcript | ENST00000269053.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SPACA3_chr17_32986847_33002877 | 32997344 | T | TGTGTAGA others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02109.hp2 HG02258.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0058 a0001c0001t0001g0068 a0001c0001t0001g0110 others(13): Show |
16 | 470 | 0.0340 | 8 | c.503 others(23): Show |
SPACA3 | ENSG00000141316.13 | transcript | ENST00000269053.8 | protein_coding | 3/4 | chr17 | TogoVar | |||||||
SPACA3_chr17_32986847_33002877 | 32997344 | T | TGTGTGTA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG01361.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0149 a0001c0001t0001g0193 others(3): Show |
7 | 470 | 0.0149 | 8 | c.503 others(23): Show |
SPACA3 | ENSG00000141316.13 | transcript | ENST00000269053.8 | protein_coding | 3/4 | chr17 | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48135184 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 312 | 0.0032 | 8 | c.*26 others(19): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2565 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48135277 | G | GCTTTCTT others(1): Show |
downstream_gene_variant | MODIFIER | HG02895.hp1 HG02965.hp1 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 |
4 | 312 | 0.0128 | 8 | c.*27 others(19): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2658 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48135281 | G | GCTTTCTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00323.hp2 HG01123.hp2 HG01168.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
15 | 312 | 0.0481 | 8 | c.*27 others(19): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2662 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48135285 | G | GCTTTCTT others(1): Show |
downstream_gene_variant | MODIFIER | HG02451.hp2 HG02559.hp1 HG03490.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 |
8 | 312 | 0.0256 | 8 | c.*27 others(19): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2666 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48135289 | G | GCTTGCTT others(1): Show |
downstream_gene_variant | MODIFIER | NA18969.hp2 NA19001.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 2 | 312 | 0.0064 | 8 | c.*27 others(19): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2670 | chrX | TogoVar | |||||||
SPACA5B_chrX_48125626_48137620 | 48135289 | G | GCTTTCTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG01361.hp1 HG01515.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0002 |
15 | 312 | 0.0481 | 8 | c.*27 others(19): Show |
SPACA5B | ENSG00000171478.8 | transcript | ENST00000304270.6 | protein_coding | 2670 | chrX | TogoVar |