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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SUSD6_chr14_69606596_69720144 | 69635595 | CCACACAC others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00597.hp2 others(34): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0003a0001c0001t0016a0001c0001t0017others(5): Show | a0001c0001t0003g0001a0001c0001t0003g0003a0001c0001t0003g0114others(32): Show | 37 | 288 | 0.1285 | -24 | c.-80 others(43): Show |
SUSD6 | ENSG00000100647.8 | transcript | ENST00000342745.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SV2C_chr5_76078383_76338956 | 76223440 | CATACATA others(17): Show |
C | intron_variant | MODIFIER | HG02738.hp1 HG02896.hp1 HG02970.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0126a0001c0001t0133a0001c0002t0096others(3): Show | a0001c0001t0126g0172a0001c0001t0133g0157a0001c0002t0096g0112others(3): Show | 6 | 234 | 0.0256 | -24 | c.913 others(43): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SV2C_chr5_76078383_76338956 | 76223444 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | NA18968.hp1 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011 | a0001c0001t0003g0165a0001c0001t0011g0056 | 2 | 234 | 0.0086 | -24 | c.913 others(43): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SV2C_chr5_76078383_76338956 | 76223473 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0174 | 1 | 234 | 0.0043 | -24 | c.913 others(43): Show |
SV2C | ENSG00000122012.14 | transcript | ENST00000502798.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
SVBP_chr1_42802052_42822397 | 42808139 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | HG06807.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0193a0001c0001t0002g0177 | 2 | 394 | 0.0051 | -24 | c.115 others(39): Show |
SVBP | ENSG00000177868.12 | transcript | ENST00000372521.9 | protein_coding | 2/2 | chr1 | TogoVar | ||||||
SVEP1_chr9_110360248_110584741 | 110533594 | CTGTGTGT others(17): Show |
C | intron_variant | MODIFIER | NA19060.hp1 | a0037 | a0037c0027 | a0037c0027t0003 | a0037c0027t0003g0187 | 1 | 362 | 0.0028 | -24 | c.964 others(43): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 3/47 | chr9 | TogoVar | ||||||
SVEP1_chr9_110360248_110584741 | 110541797 | ATATATAT others(17): Show |
A | intron_variant | MODIFIER | HG03927.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0175 | 1 | 362 | 0.0028 | -24 | c.964 others(41): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 3/47 | chr9 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138621814 | GTATCTAT others(17): Show |
G | intron_variant | MODIFIER | HG00609.hp2 HG01258.hp1 HG02155.hp2 others(15): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(7): Show | a0001c0001t0001g0060a0001c0001t0001g0132a0001c0001t0001g0187others(15): Show | 18 | 360 | 0.0500 | -24 | c.126 others(41): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 13/15 | chr7 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138621894 | CTATCTAT others(17): Show |
C | intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0025 | a0001c0025t0001 | a0001c0025t0001g0293 | 1 | 360 | 0.0028 | -24 | c.126 others(41): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 13/15 | chr7 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138621994 | CTATCTAT others(17): Show |
C | intron_variant | MODIFIER | NA19064.hp2 | a0003 | a0003c0007 | a0003c0007t0004 | a0003c0007t0004g0075 | 1 | 360 | 0.0028 | -24 | c.126 others(41): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 13/15 | chr7 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138622006 | GTATCTAT others(17): Show |
G | intron_variant | MODIFIER | HG01516.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0046 | 1 | 360 | 0.0028 | -24 | c.126 others(41): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 13/15 | chr7 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138622070 | GTATCTAT others(17): Show |
G | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0351 | 1 | 360 | 0.0028 | -24 | c.126 others(41): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 13/15 | chr7 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138622090 | GTATCTAT others(17): Show |
G | intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0064 | 1 | 360 | 0.0028 | -24 | c.126 others(41): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 13/15 | chr7 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138622114 | CTATCTAT others(17): Show |
C | intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 360 | 0.0028 | -24 | c.126 others(42): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 13/15 | chr7 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138637481 | GATATAGA others(17): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG01243.hp1 HG01884.hp2 others(15): Show |
a0001a0002a0012 | a0001c0001a0001c0005a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0016a0001c0001t0001g0174a0001c0001t0001g0242others(15): Show | 18 | 360 | 0.0500 | -24 | c.789 others(41): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 9/15 | chr7 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138693529 | AAAAGAAA others(17): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02622.hp2 HG02976.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0003t0002others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0040a0001c0005t0001g0226others(2): Show | 5 | 360 | 0.0139 | -24 | c.-35 others(41): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9675322 | AGAGAGAG others(17): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00673.hp1 HG03017.hp1 others(13): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0002a0001c0003t0003a0002c0001t0001others(4): Show | a0001c0002t0002g0128a0001c0002t0002g0135a0001c0002t0002g0141others(13): Show | 16 | 294 | 0.0544 | -24 | c.99+ others(41): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SWAP70_chr11_9659077_9757993 | 9675346 | CGAGAGAG others(17): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02572.hp2 |
a0002 | a0002c0001a0002c0006 | a0002c0001t0014a0002c0006t0001 | a0002c0001t0014g0239a0002c0006t0001g0022a0002c0006t0001g0237 | 3 | 294 | 0.0102 | -24 | c.99+ others(41): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
SWI5_chr9_128271276_128293989 | 128291978 | CAAAAAAA others(17): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG01167.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0017others(5): Show | 8 | 386 | 0.0207 | -24 | c.*32 others(35): Show |
SWI5 | ENSG00000175854.15 | transcript | ENST00000418976.3 | protein_coding | 2990 | chr9 | TogoVar | ||||||
SYCE1_chr10_133549847_133570583 | 133562261 | ATGTGTGT others(17): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00558.hp2 others(50): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005 | a0002c0002t0002g0003a0002c0002t0002g0007a0002c0002t0002g0011others(7): Show | 53 | 384 | 0.1380 | -24 | c.74- others(39): Show |
SYCE1 | ENSG00000171772.17 | transcript | ENST00000343131.7 | protein_coding | 1/12 | chr10 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10888066 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00609.hp1 others(34): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0256a0001c0001t0001g0349a0001c0001t0002g0003others(32): Show | 37 | 354 | 0.1045 | -24 | c.9+9 others(35): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SYCP2L_chr6_10882052_10979309 | 10891609 | CTCTCTGT others(17): Show |
C | intron_variant | MODIFIER | HG02056.hp2 NA18952.hp2 NA18988.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0176a0001c0002t0001g0177a0001c0002t0001g0233 | 3 | 354 | 0.0085 | -24 | c.78+ others(35): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SYCP2_chr20_59858571_59938637 | 59879818 | AATAAATA others(17): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01884.hp1 HG02559.hp1 others(6): Show |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0001a0006c0011t0001 | a0001c0001t0001g0017a0001c0001t0001g0018a0001c0001t0001g0019others(6): Show | 9 | 276 | 0.0326 | -24 | c.294 others(41): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 31/44 | chr20 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32564693 | TCGGACTG others(17): Show |
T | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0144 | 1 | 184 | 0.0054 | -24 | c.775 others(43): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32564852 | TGCTCCCG others(17): Show |
T | intron_variant | MODIFIER | HG00673.hp2 HG01258.hp1 HG02071.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0062others(1): Show | a0001c0001t0001g0051a0001c0001t0001g0117a0001c0001t0001g0179others(3): Show | 6 | 184 | 0.0326 | -24 | c.775 others(43): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32564937 | TACCCAAA others(17): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00673.hp1 others(48): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0011a0001c0001t0001g0048a0001c0001t0001g0051others(48): Show | 51 | 184 | 0.2772 | -24 | c.775 others(43): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32564978 | TGGACTGC others(17): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01192.hp1 HG01433.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(21): Show | a0001c0001t0001g0097a0001c0001t0003g0157a0001c0001t0003g0169others(26): Show | 29 | 184 | 0.1576 | -24 | c.775 others(43): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32565025 | CCGGACTG others(17): Show |
C | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0003 | a0001c0003t0049 | a0001c0003t0049g0120 | 1 | 184 | 0.0054 | -24 | c.775 others(43): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32565149 | GCTGCACC others(17): Show |
G | intron_variant | MODIFIER | HG00673.hp2 HG01258.hp1 HG02071.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0035a0001c0001t0001g0051a0001c0001t0001g0117others(16): Show | 19 | 184 | 0.1033 | -24 | c.775 others(43): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32962801 | CATCTATC others(17): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG02055.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(8): Show | a0001c0001t0001g0011a0001c0001t0003g0169a0001c0001t0009g0170others(8): Show | 11 | 184 | 0.0598 | -24 | c.369 others(43): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 3/13 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32990267 | CCCATCCA others(17): Show |
C | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01106.hp1 others(11): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0018a0001c0001t0030others(8): Show | a0001c0001t0001g0029a0001c0001t0001g0097a0001c0001t0018g0106others(11): Show | 14 | 184 | 0.0761 | -24 | c.312 others(41): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 2/13 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32990407 | GCCATCCA others(17): Show |
G | intron_variant | MODIFIER | HG02280.hp2 HG03195.hp1 HG03471.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0009a0001c0001t0010a0001c0001t0016others(3): Show | a0001c0001t0009g0067a0001c0001t0010g0087a0001c0001t0016g0145others(3): Show | 6 | 184 | 0.0326 | -24 | c.312 others(41): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 2/13 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 33028643 | ATGGTGGT others(17): Show |
A | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 184 | 0.0054 | -24 | c.-16 others(45): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 33028667 | GTGGTGGT others(17): Show |
G | intron_variant | MODIFIER | HG01099.hp1 HG02886.hp2 HG06807.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0021a0001c0001t0033a0002c0002t0005 | a0001c0001t0021g0149a0001c0001t0033g0148a0002c0002t0005g0141 | 3 | 184 | 0.0163 | -24 | c.-16 others(45): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | ||||||
SYNCRIP_chr6_85608976_85647886 | 85616567 | ACCCACCT others(17): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165a0001c0001t0001g0181 | 2 | 364 | 0.0055 | -24 | c.128 others(43): Show |
SYNCRIP | ENSG00000135316.20 | transcript | ENST00000369622.8 | protein_coding | 10/10 | chr6 | TogoVar | ||||||
SYNE1_chr6_152116687_152642362 | 152184631 | TATAGATA others(17): Show |
T | intron_variant | MODIFIER | NA18957.hp1 NA19066.hp1 |
a0001a0056 | a0001c0139a0056c0045 | a0001c0139t0006a0056c0045t0007 | a0001c0139t0006g0146a0056c0045t0007g0161 | 2 | 174 | 0.0115 | -24 | c.233 others(45): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | ||||||
SYNE1_chr6_152116687_152642362 | 152253817 | GGTTTTTT others(17): Show |
G | intron_variant | MODIFIER | HG02559.hp2 HG02572.hp1 HG02622.hp1 others(1): Show |
a0014a0034a0045others(1): Show | a0014c0115a0034c0103a0045c0041others(1): Show | a0014c0115t0004a0034c0103t0004a0045c0041t0002others(1): Show | a0014c0115t0004g0019a0034c0103t0004g0092a0045c0041t0002g0089others(1): Show | 4 | 174 | 0.0230 | -24 | c.194 others(45): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 104/145 | chr6 | TogoVar | ||||||
SYNE1_chr6_152116687_152642362 | 152363497 | CTAAATAA others(17): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0015 | a0015c0001 | a0015c0001t0001 | a0015c0001t0001g0077a0015c0001t0001g0078 | 2 | 174 | 0.0115 | -24 | c.101 others(45): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 63/145 | chr6 | TogoVar | ||||||
SYNE1_chr6_152116687_152642362 | 152377624 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02258.hp1 HG02572.hp2 others(3): Show |
a0021a0071a0083others(3): Show | a0021c0154a0071c0098a0083c0039others(3): Show | a0021c0154t0003a0071c0098t0004a0083c0039t0002others(3): Show | a0021c0154t0003g0113a0071c0098t0004g0012a0083c0039t0002g0025others(3): Show | 6 | 174 | 0.0345 | -24 | c.901 others(41): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 56/145 | chr6 | TogoVar | ||||||
SYNE1_chr6_152116687_152642362 | 152604986 | AAGAAAGA others(17): Show |
A | intron_variant | MODIFIER | HG01346.hp2 | a0094 | a0094c0143 | a0094c0143t0004 | a0094c0143t0004g0037 | 1 | 174 | 0.0058 | -24 | c.67+ others(41): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | ||||||
SYNE1_chr6_152116687_152642362 | 152605025 | AGAGAGAG others(17): Show |
A | intron_variant | MODIFIER | HG03540.hp2 | a0075 | a0075c0099 | a0075c0099t0003 | a0075c0099t0003g0097 | 1 | 174 | 0.0058 | -24 | c.67+ others(41): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | ||||||
SYNE1_chr6_152116687_152642362 | 152605062 | GAGGGAGG others(17): Show |
G | intron_variant | MODIFIER | HG03486.hp1 | a0023 | a0023c0012 | a0023c0012t0004 | a0023c0012t0004g0054 | 1 | 174 | 0.0058 | -24 | c.67+ others(41): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63974884 | GTGTGTGT others(17): Show |
G | intron_variant | MODIFIER | HG04199.hp1 NA18986.hp2 |
a0019a0045 | a0019c0021a0045c0073 | a0019c0021t0002a0045c0073t0002 | a0019c0021t0002g0021a0045c0073t0002g0019 | 2 | 150 | 0.0133 | -24 | c.112 others(43): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 11/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SYNE2_chr14_63848004_64231433 | 63974890 | GTGTATAT others(17): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02809.hp1 HG02922.hp1 others(2): Show |
a0007a0065a0066 | a0007c0011a0065c0046a0066c0045 | a0007c0011t0004a0007c0011t0010a0065c0046t0001others(1): Show | a0007c0011t0004g0029a0007c0011t0004g0055a0007c0011t0010g0054others(2): Show | 5 | 150 | 0.0333 | -24 | c.112 others(43): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 11/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SYNE2_chr14_63848004_64231433 | 64217257 | ATGGTCGT others(17): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG02897.hp2 HG02965.hp1 others(4): Show |
a0003a0008a0013others(3): Show | a0003c0002a0008c0078a0013c0032others(4): Show | a0003c0002t0011a0008c0078t0001a0013c0032t0001others(4): Show | a0003c0002t0011g0009a0008c0078t0001g0085a0013c0032t0001g0103others(4): Show | 7 | 150 | 0.0467 | -24 | c.195 others(43): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 108/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SYNJ1_chr21_32623763_32733013 | 32713348 | GTCAACAT others(17): Show |
G | intron_variant | MODIFIER | HG00741.hp2 HG02723.hp2 HG02818.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0098a0001c0001t0002g0099a0001c0001t0002g0100others(1): Show | 4 | 346 | 0.0116 | -24 | c.125 others(43): Show |
SYNJ1 | ENSG00000159082.18 | transcript | ENST00000674351.1 | protein_coding | 2/32 | chr21 | TogoVar | ||||||
SYNJ1_chr21_32623763_32733013 | 32713372 | ATCAACAT others(17): Show |
A | intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0127 | 1 | 346 | 0.0029 | -24 | c.125 others(43): Show |
SYNJ1 | ENSG00000159082.18 | transcript | ENST00000674351.1 | protein_coding | 2/32 | chr21 | TogoVar | ||||||
SYNJ1_chr21_32623763_32733013 | 32713548 | AGATGATT others(17): Show |
A | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0128 | 1 | 346 | 0.0029 | -24 | c.125 others(43): Show |
SYNJ1 | ENSG00000159082.18 | transcript | ENST00000674351.1 | protein_coding | 2/32 | chr21 | TogoVar | ||||||
SYNJ1_chr21_32623763_32733013 | 32713732 | ATCAACAT others(17): Show |
A | intron_variant | MODIFIER | HG03098.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0091a0001c0001t0002g0129 | 2 | 346 | 0.0058 | -24 | c.125 others(43): Show |
SYNJ1 | ENSG00000159082.18 | transcript | ENST00000674351.1 | protein_coding | 2/32 | chr21 | TogoVar | ||||||
SYNJ2_chr6_157976863_158104176 | 157989427 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | NA18966.hp2 NA18971.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0173a0002c0002t0003g0174 | 2 | 312 | 0.0064 | -24 | c.127 others(41): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |