regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SVEP1_chr9_110360248_110584741 | 110392133 | T | TTTTATAT others(25): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0004 | a0004c0094 | a0004c0094t0001 | a0004c0094t0001g0174 | 1 | 362 | 0.0028 | 32 | c.982 others(51): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 40/47 | chr9 | TogoVar | ||||||
SVEP1_chr9_110360248_110584741 | 110392151 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0210 | 1 | 362 | 0.0028 | 32 | c.982 others(51): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 40/47 | chr9 | TogoVar | ||||||
SVEP1_chr9_110360248_110584741 | 110572789 | C | CAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0175 | 1 | 362 | 0.0028 | 32 | c.531 others(49): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 1/47 | chr9 | TogoVar | ||||||
SVIP_chr11_22813927_22834801 | 22824461 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0097 | 1 | 430 | 0.0023 | 32 | c.220 others(49): Show |
SVIP | ENSG00000198168.9 | transcript | ENST00000354193.5 | protein_coding | 3/3 | chr11 | TogoVar | ||||||
SVOP_chr12_108902741_109026068 | 108903287 | G | GAGAAAGG others(25): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00597.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(12): Show | a0001c0001t0002g0053a0001c0001t0002g0127a0001c0001t0002g0141others(20): Show | 23 | 288 | 0.0799 | 32 | c.*92 others(43): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 4453 | chr12 | TogoVar | ||||||
SVOP_chr12_108902741_109026068 | 108903287 | G | GAGGAAGG others(25): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02723.hp1 HG02970.hp1 others(1): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0056a0001c0003t0016a0001c0004t0016 | a0001c0002t0056g0152a0001c0003t0016g0230a0001c0003t0016g0234others(1): Show | 4 | 288 | 0.0139 | 32 | c.*92 others(43): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 4453 | chr12 | TogoVar | ||||||
SVOP_chr12_108902741_109026068 | 108904374 | A | AAGAGATT others(25): Show |
downstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0227 | 1 | 288 | 0.0035 | 32 | c.*81 others(43): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 3366 | chr12 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9671552 | A | ATATATAA others(25): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0265 | 1 | 294 | 0.0034 | 32 | c.99+ others(47): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SWAP70_chr11_9659077_9757993 | 9671675 | A | AATAGAAA others(25): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(22): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0007others(2): Show | a0001c0002t0002a0001c0002t0011a0001c0002t0028others(7): Show | a0001c0002t0002g0105a0001c0002t0011g0092a0001c0002t0028g0192others(22): Show | 25 | 294 | 0.0850 | 32 | c.99+ others(47): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SWAP70_chr11_9659077_9757993 | 9671743 | G | GAAATATA others(25): Show |
intron_variant | MODIFIER | HG02615.hp1 NA21309.hp1 |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0027a0002c0004t0001 | a0001c0003t0027g0030a0002c0004t0001g0187 | 2 | 294 | 0.0068 | 32 | c.99+ others(47): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SWAP70_chr11_9659077_9757993 | 9725569 | A | ATATATTT others(25): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0094 | 1 | 294 | 0.0034 | 32 | c.642 others(47): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SYCE1L_chr16_77194408_77218215 | 77200274 | G | GTGTGTAT others(25): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0007 | a0007c0009 | a0007c0009t0008 | a0007c0009t0008g0191 | 1 | 442 | 0.0023 | 32 | c.61+ others(45): Show |
SYCE1L | ENSG00000205078.6 | transcript | ENST00000378644.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SYCE1L_chr16_77194408_77218215 | 77200291 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02615.hp1 HG02630.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051a0001c0001t0003g0065 | 3 | 442 | 0.0068 | 32 | c.61+ others(45): Show |
SYCE1L | ENSG00000205078.6 | transcript | ENST00000378644.5 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
SYCE1L_chr16_77194408_77218215 | 77215054 | G | GTGAAGAC others(25): Show |
downstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 442 | 0.0023 | 32 | c.*21 others(43): Show |
SYCE1L | ENSG00000205078.6 | transcript | ENST00000378644.5 | protein_coding | 1840 | chr16 | TogoVar | ||||||
SYCE3_chr22_50546112_50567919 | 50561535 | G | GGGAGGAG others(25): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01884.hp2 others(28): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0017a0001c0001t0001g0046a0001c0001t0001g0182others(16): Show | 31 | 414 | 0.0749 | 32 | c.-1+ others(47): Show |
SYCE3 | ENSG00000217442.4 | transcript | ENST00000406915.4 | protein_coding | 1/2 | chr22 | TogoVar | ||||||
SYCP1_chr1_114849863_115000370 | 114857156 | A | AAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02135.hp1 HG03834.hp2 NA20905.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004a0001c0002t0001g0120a0001c0002t0001g0136 | 3 | 312 | 0.0096 | 32 | c.194 others(45): Show |
SYCP1 | ENSG00000198765.12 | transcript | ENST00000369522.8 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SYCP1_chr1_114849863_115000370 | 114881501 | A | ATCCTTCC others(25): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01993.hp1 HG02135.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043a0001c0001t0001g0072a0001c0001t0001g0074others(7): Show | 10 | 312 | 0.0321 | 32 | c.910 others(49): Show |
SYCP1 | ENSG00000198765.12 | transcript | ENST00000369522.8 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SYCP2L_chr6_10882052_10979309 | 10978310 | T | TATATATA others(25): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0008 | a0008c0014 | a0008c0014t0001 | a0008c0014t0001g0136 | 1 | 354 | 0.0028 | 32 | c.*43 others(43): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 4002 | chr6 | TogoVar | ||||||
SYCP3_chr12_101723648_101744462 | 101735871 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG01255.hp1 HG03704.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 2 | 426 | 0.0047 | 32 | c.236 others(47): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | ||||||
SYCP3_chr12_101723648_101744462 | 101735871 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 426 | 0.0024 | 32 | c.236 others(47): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | ||||||
SYCP3_chr12_101723648_101744462 | 101735871 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 426 | 0.0024 | 32 | c.236 others(47): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | ||||||
SYCP3_chr12_101723648_101744462 | 101735871 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 426 | 0.0024 | 32 | c.236 others(47): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | ||||||
SYK_chr9_90796819_90903549 | 90802815 | T | TAAAAAAA others(25): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0368 | 1 | 376 | 0.0027 | 32 | c.-42 others(47): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SYK_chr9_90796819_90903549 | 90884392 | T | TACATATA others(25): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0256a0001c0001t0001g0257 | 2 | 376 | 0.0053 | 32 | c.158 others(51): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SYK_chr9_90796819_90903549 | 90884473 | A | ATACATAC others(25): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0296 | 1 | 376 | 0.0027 | 32 | c.158 others(51): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SYK_chr9_90796819_90903549 | 90884482 | C | CACACATA others(25): Show |
intron_variant | MODIFIER | HG02683.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0017 | a0001c0001t0007g0008a0001c0001t0017g0349 | 2 | 376 | 0.0053 | 32 | c.158 others(51): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SYK_chr9_90796819_90903549 | 90884711 | A | ACACATAT others(25): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01074.hp2 HG01192.hp2 others(1): Show |
a0001 | a0001c0005a0001c0012 | a0001c0005t0006a0001c0005t0007a0001c0012t0022 | a0001c0005t0006g0032a0001c0005t0007g0056a0001c0005t0007g0126others(1): Show | 4 | 376 | 0.0106 | 32 | c.158 others(51): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SYK_chr9_90796819_90903549 | 90884736 | T | TACATATA others(25): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0082 | 1 | 376 | 0.0027 | 32 | c.158 others(51): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SYN2_chr3_11999388_12197032 | 12098856 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0109 | 1 | 264 | 0.0038 | 32 | c.378 others(51): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SYN3_chr22_32502820_33063381 | 32650226 | T | TCTCCCTC others(25): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 184 | 0.0054 | 32 | c.712 others(51): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32758681 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01496.hp1 HG01978.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0007a0001c0001t0010a0001c0001t0025others(5): Show | a0001c0001t0007g0172a0001c0001t0010g0094a0001c0001t0025g0044others(6): Show | 9 | 184 | 0.0489 | 32 | c.711 others(53): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32814313 | G | GACAGAAA others(25): Show |
intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG03579.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0031a0001c0001t0041a0002c0002t0051 | a0001c0001t0031g0143a0001c0001t0041g0096a0002c0002t0051g0142 | 3 | 184 | 0.0163 | 32 | c.711 others(51): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32814324 | A | AAAGAAAG others(25): Show |
intron_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0074 | 1 | 184 | 0.0054 | 32 | c.711 others(51): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32869367 | T | TCTCTCTC others(25): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0060 | 1 | 184 | 0.0054 | 32 | c.462 others(47): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 4/13 | chr22 | TogoVar | ||||||
SYNC_chr1_32674906_32707770 | 32687855 | A | ATTATTAT others(25): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 318 | 0.0031 | 32 | c.123 others(51): Show |
SYNC | ENSG00000162520.15 | transcript | ENST00000409190.8 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
SYNE1_chr6_152116687_152642362 | 152559041 | T | TCTGTTGC others(25): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(130): Show |
a0001a0002a0003others(104): Show | a0001c0007a0001c0008a0001c0139others(124): Show | a0001c0007t0007a0001c0008t0001a0001c0008t0003others(127): Show | a0001c0007t0007g0150a0001c0007t0007g0152a0001c0008t0001g0064others(130): Show | 133 | 174 | 0.7644 | 32 | c.68- others(49): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63974890 | G | GTATATAT others(25): Show |
intron_variant | MODIFIER | HG00735.hp2 | a0052 | a0052c0056 | a0052c0056t0001 | a0052c0056t0001g0136 | 1 | 150 | 0.0067 | 32 | c.112 others(51): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 11/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SYNE3_chr14_95402266_95521650 | 95429967 | T | TAAGGAAG others(25): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01255.hp1 HG01975.hp1 others(27): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0004a0003c0012others(7): Show | a0001c0001t0001a0001c0001t0049a0001c0001t0208others(18): Show | a0001c0001t0001g0065a0001c0001t0049g0023a0001c0001t0208g0011others(27): Show | 30 | 384 | 0.0781 | 32 | c.272 others(51): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | ||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(25): Show |
upstream_gene_variant | MODIFIER | NA18906.hp2 | a0004 | a0004c0021 | a0004c0021t0005 | a0004c0021t0005g0048 | 1 | 420 | 0.0024 | 32 | c.-64 others(41): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | ||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(25): Show |
upstream_gene_variant | MODIFIER | NA18943.hp2 NA18988.hp1 |
a0003a0004 | a0003c0003a0004c0004 | a0003c0003t0003a0004c0004t0005 | a0003c0003t0003g0032a0004c0004t0005g0021 | 2 | 420 | 0.0048 | 32 | c.-64 others(41): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | ||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(25): Show |
upstream_gene_variant | MODIFIER | HG01169.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0034 | 1 | 420 | 0.0024 | 32 | c.-64 others(41): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | ||||||
SYNM_chr15_99100080_99140593 | 99104555 | A | ATATATAT others(25): Show |
upstream_gene_variant | MODIFIER | HG01515.hp1 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0004 | 1 | 420 | 0.0024 | 32 | c.-64 others(41): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 524 | chr15 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118890697 | T | TTCTCTCT others(25): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02027.hp2 others(3): Show |
a0002a0003 | a0002c0003a0002c0004a0003c0002 | a0002c0003t0022a0002c0004t0001a0003c0002t0001others(1): Show | a0002c0003t0022g0073a0002c0004t0001g0076a0003c0002t0001g0074others(3): Show | 6 | 310 | 0.0194 | 32 | c.105 others(49): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SYNPO2_chr4_118883854_119066247 | 118900731 | A | ATATATAT others(25): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0023 | a0002c0023t0001 | a0002c0023t0001g0260 | 1 | 310 | 0.0032 | 32 | c.105 others(51): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SYNPO2_chr4_118883854_119066247 | 119007233 | T | TATGTATA others(25): Show |
intron_variant | MODIFIER | HG02723.hp1 HG03540.hp1 HG06807.hp2 |
a0002a0003a0004 | a0002c0004a0003c0002a0004c0008 | a0002c0004t0007a0003c0002t0005a0004c0008t0001 | a0002c0004t0007g0251a0003c0002t0005g0303a0004c0008t0001g0302 | 3 | 310 | 0.0097 | 32 | c.106 others(51): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SYNPO2_chr4_118883854_119066247 | 119007235 | T | TATATATA others(25): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02559.hp2 |
a0001a0002 | a0001c0005a0002c0003 | a0001c0005t0008a0002c0003t0029 | a0001c0005t0008g0223a0002c0003t0029g0167 | 2 | 310 | 0.0065 | 32 | c.106 others(51): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
SYNPR_chr3_63273308_63621924 | 63314006 | C | CATATATA others(25): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02559.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011a0001c0001t0013 | a0001c0001t0004g0225a0001c0001t0004g0227a0001c0001t0004g0229others(3): Show | 6 | 246 | 0.0244 | 32 | c.84+ others(49): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SYNPR_chr3_63273308_63621924 | 63386603 | A | ACTTCCTT others(25): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02280.hp1 HG02451.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0038a0001c0001t0001g0042a0001c0001t0001g0217others(8): Show | 11 | 246 | 0.0447 | 32 | c.85- others(49): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SYNPR_chr3_63273308_63621924 | 63408194 | G | GAAAGAAA others(25): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0242 | 1 | 246 | 0.0041 | 32 | c.85- others(49): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SYNPR_chr3_63273308_63621924 | 63408194 | G | GAAAGAAA others(25): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02056.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0006a0001c0001t0002g0065a0001c0001t0003g0036 | 3 | 246 | 0.0122 | 32 | c.85- others(49): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar |