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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPAG9_chr17_50957174_51125868 | 51095689 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 292 | 0.0034 | -12 | c.304 others(31): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51095765 | CATATAGT others(5): Show |
C | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 292 | 0.0034 | -12 | c.304 others(31): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51095994 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | NA18944.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0207 | 1 | 292 | 0.0034 | -12 | c.304 others(31): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar | |||||||
SPAG9_chr17_50957174_51125868 | 51096026 | TATATATA others(5): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0002 | a0002c0004 | a0002c0004t0016 | a0002c0004t0016g0002 | 1 | 292 | 0.0034 | -12 | c.304 others(31): Show |
SPAG9 | ENSG00000008294.22 | transcript | ENST00000262013.12 | protein_coding | 1/29 | chr17 | TogoVar | |||||||
SPAM1_chr7_123920241_123965046 | 123928537 | TAAGATGT others(5): Show |
T | intron_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0159 | 1 | 388 | 0.0026 | -12 | c.-31 others(31): Show |
SPAM1 | ENSG00000106304.16 | transcript | ENST00000682466.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPAM1_chr7_123920241_123965046 | 123947578 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG02647.hp2 HG02895.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0032 a0001c0001t0001g0033 others(2): Show |
9 | 388 | 0.0232 | -12 | c.-31 others(31): Show |
SPAM1 | ENSG00000106304.16 | transcript | ENST00000682466.1 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
SPAM1_chr7_123920241_123965046 | 123964667 | GGTGTGAC others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02572.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 2 | 388 | 0.0052 | -12 | c.*46 others(23): Show |
SPAM1 | ENSG00000106304.16 | transcript | ENST00000682466.1 | protein_coding | 4622 | chr7 | TogoVar | |||||||
SPANXA2_chrX_141584708_141595762 | 141595376 | AAGGAAGG others(5): Show |
A | downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 185 | 0.0054 | -12 | c.*46 others(23): Show |
SPANXA2 | ENSG00000203926.5 | transcript | ENST00000370518.4 | protein_coding | 4615 | chrX | TogoVar | |||||||
SPANXD_chrX_141692411_141703739 | 141692776 | TCCTCCCT others(5): Show |
T | downstream_gene_variant | MODIFIER | HG01074.hp1 HG02818.hp2 HG02922.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0025 a0002c0002t0004g0026 |
4 | 334 | 0.0120 | -12 | c.*46 others(23): Show |
SPANXD | ENSG00000196406.4 | transcript | ENST00000370515.3 | protein_coding | 4634 | chrX | TogoVar | |||||||
SPARCL1_chr4_87468335_87534376 | 87473606 | TGTTAAAT others(5): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(41): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0003a0001c0003t0003a0001c0003t0006others(4): Show | a0001c0002t0003g0167 a0001c0002t0003g0170 a0001c0002t0003g0171 others(41): Show |
44 | 390 | 0.1128 | -12 | c.*15 others(21): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 11/11 | 157 | chr4 | TogoVar | ||||||
SPARCL1_chr4_87468335_87534376 | 87506782 | CATCTATC others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG03098.hp2 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0096 a0003c0004t0001g0097 |
2 | 390 | 0.0051 | -12 | c.-11 others(29): Show |
SPARCL1 | ENSG00000152583.13 | transcript | ENST00000282470.11 | protein_coding | 1/10 | chr4 | TogoVar | |||||||
SPARC_chr5_151656096_151691915 | 151673966 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG02572.hp1 HG02922.hp1 |
a0001 | a0001c0002a0001c0008 | a0001c0002t0004a0001c0002t0013a0001c0008t0026 | a0001c0002t0004g0231 a0001c0002t0013g0334 a0001c0008t0026g0301 |
3 | 442 | 0.0068 | -12 | c.120 others(27): Show |
SPARC | ENSG00000113140.11 | transcript | ENST00000231061.9 | protein_coding | 3/9 | chr5 | TogoVar | |||||||
SPARC_chr5_151656096_151691915 | 151682338 | TCATCCTT others(5): Show |
T | intron_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0059 | 1 | 442 | 0.0023 | -12 | c.-14 others(29): Show |
SPARC | ENSG00000113140.11 | transcript | ENST00000231061.9 | protein_coding | 1/9 | chr5 | TogoVar | |||||||
SPAST_chr2_32058556_32162637 | 32066982 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG01175.hp2 HG01884.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(3): Show | a0001c0001t0001g0078 a0001c0001t0001g0117 a0001c0001t0001g0118 others(13): Show |
16 | 342 | 0.0468 | -12 | c.415 others(29): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32075894 | CTCTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02897.hp2 HG02922.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0068 a0001c0001t0013g0069 a0001c0001t0013g0341 |
3 | 342 | 0.0088 | -12 | c.416 others(31): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32083744 | TATATACT others(5): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0147 | 1 | 342 | 0.0029 | -12 | c.416 others(29): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
SPAST_chr2_32058556_32162637 | 32083746 | TATACTAT others(5): Show |
T | intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 342 | 0.0029 | -12 | c.416 others(29): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 1/16 | chr2 | TogoVar | |||||||
SPAST_chr2_32058556_32162637 | 32091245 | CTATTATT others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00642.hp2 HG01081.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0074 a0001c0001t0001g0085 a0001c0001t0001g0088 others(34): Show |
37 | 342 | 0.1082 | -12 | c.586 others(29): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32126469 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 342 | 0.0029 | -12 | c.109 others(29): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPAST_chr2_32058556_32162637 | 32130737 | AAATCCAG others(5): Show |
A | intron_variant | MODIFIER | HG03491.hp2 HG03669.hp1 HG03927.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0063 a0001c0001t0003g0064 a0001c0001t0003g0066 others(1): Show |
4 | 342 | 0.0117 | -12 | c.124 others(31): Show |
SPAST | ENSG00000021574.14 | transcript | ENST00000315285.9 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24173362 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG03209.hp1 | a0002 | a0002c0007 | a0002c0007t0021 | a0002c0007t0021g0158 | 1 | 356 | 0.0028 | -12 | c.-11 others(33): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24201031 | TCACACAC others(5): Show |
T | intron_variant | MODIFIER | HG03579.hp2 | a0005 | a0005c0010 | a0005c0010t0037 | a0005c0010t0037g0192 | 1 | 356 | 0.0028 | -12 | c.-11 others(33): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24202070 | CTAAATAA others(5): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(65): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(49): Show | a0001c0001t0002g0082 a0001c0001t0002g0094 a0001c0001t0002g0132 others(65): Show |
68 | 356 | 0.1910 | -12 | c.-11 others(33): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24233886 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0013 | a0001c0013t0128 | a0001c0013t0128g0120 | 1 | 356 | 0.0028 | -12 | c.165 others(31): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24239693 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG01175.hp2 HG02572.hp2 HG02886.hp1 others(6): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0005others(4): Show | a0001c0002t0048a0001c0002t0081a0001c0004t0093others(6): Show | a0001c0002t0048g0226 a0001c0002t0081g0208 a0001c0004t0093g0055 others(6): Show |
9 | 356 | 0.0253 | -12 | c.165 others(31): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA13_chr13_24155720_24312069 | 24278873 | TTTCCTTC others(5): Show |
T | intron_variant | MODIFIER | HG01361.hp1 HG02615.hp2 HG02895.hp2 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0028a0001c0002t0043a0001c0002t0052others(10): Show | a0001c0001t0028g0011 a0001c0002t0043g0193 a0001c0002t0052g0013 others(11): Show |
14 | 356 | 0.0393 | -12 | c.216 others(31): Show |
SPATA13 | ENSG00000182957.16 | transcript | ENST00000382108.8 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
SPATA16_chr3_172884357_173146235 | 172959787 | CATATATA others(5): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01891.hp1 HG02074.hp2 others(10): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(5): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0070 a0001c0004t0001g0038 a0001c0004t0001g0057 others(10): Show |
13 | 200 | 0.0650 | -12 | c.934 others(29): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 172961063 | CTTCTTTC others(5): Show |
C | intron_variant | MODIFIER | HG02970.hp2 HG03516.hp2 NA18522.hp2 |
a0002a0005 | a0002c0002a0002c0005a0005c0009 | a0002c0002t0001a0002c0005t0001a0005c0009t0002 | a0002c0002t0001g0006 a0002c0005t0001g0008 a0005c0009t0002g0003 |
3 | 200 | 0.0150 | -12 | c.934 others(29): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 5/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173010435 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 200 | 0.0050 | -12 | c.848 others(29): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 4/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173028013 | CCCTTCCT others(5): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02647.hp1 others(5): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0086 a0001c0001t0001g0087 a0002c0002t0001g0088 others(5): Show |
8 | 200 | 0.0400 | -12 | c.759 others(29): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173030057 | ACTATCTA others(5): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG01261.hp2 HG02145.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0005others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(3): Show | a0001c0001t0001g0027 a0001c0001t0001g0056 a0001c0001t0001g0183 others(10): Show |
13 | 200 | 0.0650 | -12 | c.759 others(31): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 3/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173059832 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 200 | 0.0050 | -12 | c.613 others(31): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173087998 | TTTTCTTT others(5): Show |
T | intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0199 | 1 | 200 | 0.0050 | -12 | c.612 others(31): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173088007 | CGTCTTTC others(5): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02622.hp2 HG02717.hp1 others(6): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(1): Show | a0001c0001t0001g0191 a0002c0002t0001g0007 a0002c0002t0001g0091 others(6): Show |
9 | 200 | 0.0450 | -12 | c.612 others(31): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173088008 | GTCTTTCT others(5): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01255.hp2 HG01978.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0039 a0001c0001t0001g0049 a0001c0001t0001g0054 others(6): Show |
9 | 200 | 0.0450 | -12 | c.612 others(31): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173100660 | GCACACAC others(5): Show |
G | intron_variant | MODIFIER | HG01081.hp2 HG01255.hp2 HG02572.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0071 a0001c0001t0001g0094 a0002c0002t0001g0105 others(1): Show |
4 | 200 | 0.0200 | -12 | c.612 others(31): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 2/10 | chr3 | TogoVar | |||||||
SPATA16_chr3_172884357_173146235 | 173137822 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG03471.hp2 |
a0003a0010 | a0003c0003a0010c0011 | a0003c0003t0001a0010c0011t0003 | a0003c0003t0001g0009 a0010c0011t0003g0010 |
2 | 200 | 0.0100 | -12 | c.-19 others(29): Show |
SPATA16 | ENSG00000144962.7 | transcript | ENST00000351008.4 | protein_coding | 1/10 | chr3 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217629209 | TTTTTACA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00609.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0001g0209 a0001c0001t0001g0216 a0001c0001t0005g0084 others(33): Show |
36 | 252 | 0.1429 | -12 | c.-21 others(23): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 2134 | chr1 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217629219 | CCAGATAG others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02970.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0004a0001c0001t0005a0001c0009t0019 | a0001c0001t0004g0069 a0001c0001t0005g0068 a0001c0009t0019g0092 |
3 | 252 | 0.0119 | -12 | c.-21 others(23): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 2124 | chr1 | TogoVar | |||||||
SPATA17_chr1_217626344_217876696 | 217633197 | CAAATAAA others(5): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG01891.hp1 HG02486.hp1 others(1): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0009a0001c0004t0027a0001c0004t0052others(1): Show | a0001c0002t0009g0076 a0001c0004t0027g0237 a0001c0004t0052g0238 others(1): Show |
4 | 252 | 0.0159 | -12 | c.68+ others(27): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217665238 | ATGTGCCT others(5): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02976.hp2 |
a0001 | a0001c0003 | a0001c0003t0024a0001c0003t0038 | a0001c0003t0024g0243 a0001c0003t0038g0244 |
2 | 252 | 0.0079 | -12 | c.241 others(29): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217701319 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0004 | a0001c0004t0032 | a0001c0004t0032g0186 | 1 | 252 | 0.0040 | -12 | c.395 others(31): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217749975 | CTCTCTCT others(5): Show |
C | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0073 | 1 | 252 | 0.0040 | -12 | c.519 others(29): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217808373 | ACACACAC others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00639.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0008a0001c0001t0042a0001c0002t0001others(8): Show | a0001c0001t0008g0045 a0001c0001t0008g0049 a0001c0001t0008g0136 others(26): Show |
29 | 252 | 0.1151 | -12 | c.100 others(31): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA17_chr1_217626344_217876696 | 217872911 | ATGTGTGT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0068 | 1 | 252 | 0.0040 | -12 | c.*58 others(23): Show |
SPATA17 | ENSG00000162814.11 | transcript | ENST00000366933.5 | protein_coding | 1216 | chr1 | TogoVar | |||||||
SPATA18_chr4_52046304_52102299 | 52077244 | TTCCCTCC others(5): Show |
T | intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 | 1 | 308 | 0.0033 | -12 | c.102 others(29): Show |
SPATA18 | ENSG00000163071.11 | transcript | ENST00000295213.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SPATA19_chr11_133835631_133850513 | 133847222 | CACACACA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 362 | 0.0028 | -12 | c.-17 others(23): Show |
SPATA19 | ENSG00000166118.8 | transcript | ENST00000299140.8 | protein_coding | 1710 | chr11 | TogoVar | |||||||
SPATA1_chr1_84501386_84572379 | 84560093 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | NA18944.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0116 | 1 | 312 | 0.0032 | -12 | c.129 others(31): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84560097 | AAAAGAAA others(5): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp1 others(34): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0005others(2): Show | a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0018 others(28): Show |
37 | 312 | 0.1186 | -12 | c.129 others(31): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SPATA1_chr1_84501386_84572379 | 84560125 | GAAAGAAA others(5): Show |
G | intron_variant | MODIFIER | NA19058.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0051 | 1 | 312 | 0.0032 | -12 | c.129 others(31): Show |
SPATA1 | ENSG00000122432.19 | transcript | ENST00000699524.1 | protein_coding | 13/13 | chr1 | TogoVar |