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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SVOP_chr12_108902741_109026068 | 109004702 | TATTTCAT others(13): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG03195.hp2 HG03831.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0024 | a0001c0002t0001g0281 a0001c0002t0002g0147 a0001c0002t0024g0237 |
3 | 25 | 0.1200 | -20 | c.35+ others(37): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 1/15 | chr12 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9675326 | AGAGAGAG others(13): Show |
A | intron_variant | MODIFIER | HG00673.hp2 HG01346.hp2 HG01433.hp1 others(17): Show |
a0001a0002 | a0001c0002a0001c0007a0002c0001others(2): Show | a0001c0002t0002a0001c0007t0002a0002c0001t0001others(3): Show | a0001c0002t0002g0106 a0001c0002t0002g0116 a0001c0002t0002g0124 others(17): Show |
20 | 292 | 0.0685 | -20 | c.99+ others(37): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9675346 | CGAGAGAG others(13): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG02922.hp1 HG02976.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0001a0002c0004 | a0001c0003t0003a0001c0003t0009a0002c0001t0014others(1): Show | a0001c0003t0003g0205 a0001c0003t0009g0194 a0002c0001t0014g0237 others(1): Show |
4 | 212 | 0.0189 | -20 | c.99+ others(37): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWI5_chr9_128271276_128293989 | 128291978 | CAAAAAAA others(13): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG02300.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0053 a0001c0001t0001g0061 others(1): Show |
5 | 7 | 0.7143 | -20 | c.*32 others(31): Show |
SWI5 | ENSG00000175854.15 | transcript | ENST00000418976.3 | protein_coding | 2990 | chr9 | TogoVar | |||||||
SYCE1_chr10_133549847_133570583 | 133562261 | ATGTGTGT others(13): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG02630.hp2 HG03704.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0002c0002t0002g0031 |
3 | 16 | 0.1875 | -20 | c.74- others(35): Show |
SYCE1 | ENSG00000171772.17 | transcript | ENST00000343131.7 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
SYCE1_chr10_133549847_133570583 | 133566561 | GTAGGGGT others(13): Show |
G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(82): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005 | a0002c0002t0002g0003 a0002c0002t0002g0005 a0002c0002t0002g0009 others(15): Show |
85 | 382 | 0.2225 | -20 | c.-10 others(31): Show |
SYCE1 | ENSG00000171772.17 | transcript | ENST00000343131.7 | protein_coding | 979 | chr10 | TogoVar | |||||||
SYCE2_chr19_12893786_12924293 | 12901169 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG02886.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 2 | 194 | 0.0103 | -20 | c.307 others(35): Show |
SYCE2 | ENSG00000161860.8 | transcript | ENST00000293695.8 | protein_coding | 3/5 | chr19 | TogoVar | |||||||
SYCP2L_chr6_10882052_10979309 | 10888066 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00597.hp1 others(69): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0011others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(69): Show |
72 | 74 | 0.9730 | -20 | c.9+9 others(31): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10891609 | CTCTCTGT others(13): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00597.hp1 others(61): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0002a0003c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0193 a0001c0001t0001g0200 a0001c0001t0001g0214 others(61): Show |
64 | 180 | 0.3556 | -20 | c.78+ others(31): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10891611 | CTCTGTGT others(13): Show |
C | intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0242 | 1 | 329 | 0.0030 | -20 | c.78+ others(31): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYCP2_chr20_59858571_59938637 | 59859095 | CCCATTCT others(13): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG02602.hp1 |
a0006 | a0006c0012 | a0006c0012t0001 | a0006c0012t0001g0001 | 2 | 274 | 0.0073 | -20 | c.*51 others(31): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 4475 | chr20 | TogoVar | |||||||
SYCP2_chr20_59858571_59938637 | 59876369 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG02165.hp1 NA18522.hp1 NA19072.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0003t0004others(1): Show | a0001c0001t0001g0031 a0001c0003t0001g0042 a0001c0003t0004g0261 others(1): Show |
4 | 29 | 0.1379 | -20 | c.315 others(37): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 33/44 | chr20 | TogoVar | |||||||
SYCP2_chr20_59858571_59938637 | 59879818 | AATAAATA others(13): Show |
A | intron_variant | MODIFIER | HG01192.hp2 HG01256.hp1 HG01258.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0023a0004c0009 | a0001c0001t0001a0001c0023t0001a0004c0009t0003others(1): Show | a0001c0001t0001g0090 a0001c0023t0001g0258 a0004c0009t0003g0013 others(1): Show |
5 | 93 | 0.0538 | -20 | c.294 others(37): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 31/44 | chr20 | TogoVar | |||||||
SYCP2_chr20_59858571_59938637 | 59879846 | TATATATA others(13): Show |
T | intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0028 | 1 | 273 | 0.0037 | -20 | c.294 others(37): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 31/44 | chr20 | TogoVar | |||||||
SYDE2_chr1_85151889_85206016 | 85163442 | AATCTATA others(13): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02622.hp2 |
a0010 | a0010c0013 | a0010c0013t0007 | a0010c0013t0007g0053 a0010c0013t0007g0281 |
3 | 393 | 0.0076 | -20 | c.308 others(39): Show |
SYDE2 | ENSG00000097096.10 | transcript | ENST00000341460.6 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
SYDE2_chr1_85151889_85206016 | 85163445 | CTATATAT others(13): Show |
C | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0017 | a0001c0017t0004 | a0001c0017t0004g0172 | 1 | 79 | 0.0127 | -20 | c.308 others(39): Show |
SYDE2 | ENSG00000097096.10 | transcript | ENST00000341460.6 | protein_coding | 6/6 | chr1 | TogoVar | |||||||
SYK_chr9_90796819_90903549 | 90817866 | TGTGTGTG others(13): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02615.hp1 HG02809.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0012others(4): Show | a0001c0001t0001g0368 a0001c0001t0001g0370 a0001c0001t0009g0171 others(7): Show |
11 | 243 | 0.0453 | -20 | c.-42 others(39): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SYK_chr9_90796819_90903549 | 90901316 | ACTCTCTC others(13): Show |
A | downstream_gene_variant | MODIFIER | HG06807.hp1 NA18984.hp2 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0002a0001c0014t0013 | a0001c0001t0002g0156 a0001c0014t0013g0233 |
2 | 23 | 0.0870 | -20 | c.*57 others(31): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 2768 | chr9 | TogoVar | |||||||
SYN2_chr3_11999388_12197032 | 12003813 | TGTGTGCG others(13): Show |
T | upstream_gene_variant | MODIFIER | HG01123.hp1 HG01358.hp1 HG02040.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0057 a0002c0002t0001g0090 a0002c0002t0001g0097 |
3 | 233 | 0.0129 | -20 | c.-73 others(29): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 574 | chr3 | TogoVar | |||||||
SYN2_chr3_11999388_12197032 | 12050711 | CTTTTTTT others(13): Show |
C | intron_variant | MODIFIER | HG01943.hp2 HG02055.hp2 HG02559.hp2 others(17): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0003a0001c0001t0010a0003c0003t0007others(1): Show | a0001c0001t0003g0033 a0001c0001t0003g0034 a0001c0001t0003g0035 others(16): Show |
20 | 23 | 0.8696 | -20 | c.377 others(39): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32569537 | ATCTCTCT others(13): Show |
A | intron_variant | MODIFIER | HG02683.hp1 HG03492.hp1 HG04184.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0030a0001c0001t0069others(1): Show | a0001c0001t0003g0176 a0001c0001t0030g0015 a0001c0001t0069g0126 others(1): Show |
4 | 114 | 0.0351 | -20 | c.774 others(39): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32569553 | CTCTCTCT others(13): Show |
C | intron_variant | MODIFIER | HG00673.hp2 HG01074.hp2 HG01081.hp1 others(22): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0035 a0001c0001t0001g0051 a0001c0001t0001g0117 others(22): Show |
25 | 184 | 0.1359 | -20 | c.774 others(39): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32569555 | CTCTCTCT others(13): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00741.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0011 a0001c0001t0001g0048 a0001c0001t0001g0113 others(18): Show |
21 | 181 | 0.1160 | -20 | c.774 others(39): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32569557 | CTCTCTCT others(13): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG02071.hp2 HG03688.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007a0001c0001t0008others(1): Show | a0001c0001t0002g0057 a0001c0001t0002g0182 a0001c0001t0007g0172 others(2): Show |
5 | 160 | 0.0313 | -20 | c.774 others(39): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32962801 | CATCTATC others(13): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02145.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0014others(14): Show | a0001c0001t0001g0097 a0001c0001t0009g0090 a0001c0001t0014g0099 others(16): Show |
19 | 43 | 0.4419 | -20 | c.369 others(39): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 3/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32990281 | CATCCATG others(13): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG03098.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0020a0001c0003t0052 | a0001c0001t0020g0156 a0001c0003t0052g0104 |
2 | 184 | 0.0109 | -20 | c.312 others(37): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 2/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 33008924 | CAAAAAAA others(13): Show |
C | intron_variant | MODIFIER | HG03041.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0039 | a0001c0001t0016g0145 a0001c0001t0039g0144 |
2 | 51 | 0.0392 | -20 | c.-16 others(39): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
SYNDIG1_chr20_24464629_24671616 | 24500474 | TTTTCTTT others(13): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp1 HG01243.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 a0001c0001t0001g0162 a0001c0001t0001g0250 others(2): Show |
5 | 68 | 0.0735 | -20 | c.-79 others(39): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SYNE1_chr6_152116687_152173312 | 152138512 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0320 | 1 | 128 | 0.0078 | -20 | c.199 others(39): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000354674.5 | protein_coding | 12/17 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152184631 | TATAGATA others(13): Show |
T | intron_variant | MODIFIER | HG01081.hp2 | a0037 | a0037c0039 | a0037c0039t0002 | a0037c0039t0002g0052 | 1 | 95 | 0.0105 | -20 | c.233 others(41): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152188984 | AATATATA others(13): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0072 | a0072c0077 | a0072c0077t0013 | a0072c0077t0013g0002 | 1 | 97 | 0.0103 | -20 | c.233 others(39): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152253813 | GTTTGGTT others(13): Show |
G | intron_variant | MODIFIER | HG02071.hp2 HG02080.hp1 |
a0017a0052 | a0017c0045a0052c0098 | a0017c0045t0007a0052c0098t0007 | a0017c0045t0007g0140 a0052c0098t0007g0143 |
2 | 126 | 0.0159 | -20 | c.194 others(41): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 104/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152253817 | GGTTTTTT others(13): Show |
G | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01928.hp1 others(5): Show |
a0014a0048a0056others(4): Show | a0014c0001a0048c0034a0056c0072others(4): Show | a0014c0001t0001a0048c0034t0003a0056c0072t0002others(4): Show | a0014c0001t0001g0077 a0014c0001t0001g0078 a0048c0034t0003g0045 others(5): Show |
8 | 67 | 0.1194 | -20 | c.194 others(41): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 104/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152256431 | AAAATAAA others(13): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0071 | a0071c0016 | a0071c0016t0002 | a0071c0016t0002g0014 | 1 | 91 | 0.0110 | -20 | c.191 others(39): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 102/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152328380 | TTTTATTT others(13): Show |
T | intron_variant | MODIFIER | HG02896.hp1 HG03540.hp1 HG06807.hp2 others(1): Show |
a0004a0006a0073others(1): Show | a0004c0097a0006c0024a0073c0096others(1): Show | a0004c0097t0002a0006c0024t0004a0073c0096t0002others(1): Show | a0004c0097t0002g0073 a0006c0024t0004g0056 a0073c0096t0002g0096 others(1): Show |
4 | 78 | 0.0513 | -20 | c.149 others(41): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 78/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152363497 | CTAAATAA others(13): Show |
C | intron_variant | MODIFIER | HG03831.hp2 | a0097 | a0097c0110 | a0097c0110t0005 | a0097c0110t0005g0041 | 1 | 16 | 0.0625 | -20 | c.101 others(41): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 63/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152371845 | CAGGAAAG others(13): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01175.hp1 others(12): Show |
a0005a0007a0011others(8): Show | a0005c0019a0007c0002a0011c0119others(10): Show | a0005c0019t0001a0007c0002t0003a0007c0002t0006others(12): Show | a0005c0019t0001g0033 a0007c0002t0003g0081 a0007c0002t0006g0164 others(12): Show |
15 | 104 | 0.1442 | -20 | c.950 others(39): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 59/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152371905 | AAGGAAAG others(13): Show |
A | intron_variant | MODIFIER | HG00140.hp2 | a0005 | a0005c0020 | a0005c0020t0003 | a0005c0020t0003g0026 | 1 | 126 | 0.0079 | -20 | c.950 others(39): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 59/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152371910 | AAGGAAAG others(13): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01981.hp1 others(6): Show |
a0001a0002a0017others(6): Show | a0001c0144a0002c0058a0017c0062others(6): Show | a0001c0144t0006a0002c0058t0005a0017c0062t0006others(6): Show | a0001c0144t0006g0145 a0002c0058t0005g0100 a0017c0062t0006g0124 others(6): Show |
9 | 156 | 0.0577 | -20 | c.950 others(39): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 59/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152371915 | AAGGAAAG others(13): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG02622.hp2 NA20129.hp1 |
a0030a0064a0124 | a0030c0041a0064c0038a0124c0037 | a0030c0041t0011a0064c0038t0001a0124c0037t0001 | a0030c0041t0011g0031 a0064c0038t0001g0119 a0124c0037t0001g0058 |
3 | 163 | 0.0184 | -20 | c.950 others(39): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 59/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152377632 | AAAAAAAA others(13): Show |
A | intron_variant | MODIFIER | HG02559.hp2 HG02723.hp2 |
a0061a0070 | a0061c0104a0070c0025 | a0061c0104t0004a0070c0025t0001 | a0061c0104t0004g0092 a0070c0025t0001g0057 |
2 | 159 | 0.0126 | -20 | c.901 others(37): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 56/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152454166 | TCACACAT others(13): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00738.hp1 others(28): Show |
a0005a0006a0010others(23): Show | a0005c0019a0005c0020a0005c0021others(28): Show | a0005c0019t0001a0005c0020t0003a0005c0021t0003others(28): Show | a0005c0019t0001g0033 a0005c0020t0003g0026 a0005c0021t0003g0082 others(28): Show |
31 | 166 | 0.1867 | -20 | c.289 others(37): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 24/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152558976 | TTTTATTT others(13): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0053 | a0053c0069 | a0053c0069t0004 | a0053c0069t0004g0010 | 1 | 82 | 0.0122 | -20 | c.68- others(37): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152604944 | CAAAGAAA others(13): Show |
C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG01106.hp1 others(2): Show |
a0002a0009a0029others(2): Show | a0002c0064a0009c0007a0029c0055others(2): Show | a0002c0064t0002a0009c0007t0009a0029c0055t0007others(2): Show | a0002c0064t0002g0079 a0009c0007t0009g0122 a0029c0055t0007g0132 others(2): Show |
5 | 141 | 0.0355 | -20 | c.67+ others(37): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152604990 | AAGAAAGA others(13): Show |
A | intron_variant | MODIFIER | HG03516.hp1 NA18952.hp1 |
a0094a0105 | a0094c0157a0105c0134 | a0094c0157t0015a0105c0134t0008 | a0094c0157t0015g0007 a0105c0134t0008g0163 |
2 | 170 | 0.0118 | -20 | c.67+ others(37): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152604994 | AAGAAAGA others(13): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0091 | a0091c0013 | a0091c0013t0004 | a0091c0013t0004g0054 | 1 | 161 | 0.0062 | -20 | c.67+ others(37): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152605076 | AGAAGGAA others(13): Show |
A | intron_variant | MODIFIER | HG03831.hp2 | a0097 | a0097c0110 | a0097c0110t0005 | a0097c0110t0005g0041 | 1 | 34 | 0.0294 | -20 | c.67+ others(37): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE2_chr14_63848004_64231433 | 63948782 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG03704.hp2 | a0022 | a0022c0021 | a0022c0021t0003 | a0022c0021t0003g0020 | 1 | 51 | 0.0196 | -20 | c.409 others(37): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 6/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63974892 | GTATATAT others(13): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG00738.hp2 others(19): Show |
a0001a0002a0006others(14): Show | a0001c0005a0001c0054a0002c0001others(16): Show | a0001c0005t0001a0001c0005t0004a0001c0054t0001others(18): Show | a0001c0005t0001g0032 a0001c0005t0004g0062 a0001c0054t0001g0046 others(19): Show |
22 | 33 | 0.6667 | -20 | c.112 others(39): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 11/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63987757 | TATTTAAA others(13): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02717.hp1 HG02886.hp1 others(1): Show |
a0007a0042 | a0007c0007a0042c0093 | a0007c0007t0001a0042c0093t0001 | a0007c0007t0001g0143 a0007c0007t0001g0144 a0007c0007t0001g0145 others(1): Show |
4 | 148 | 0.0270 | -20 | c.231 others(39): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 19/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |