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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SYK_chr9_90796819_90903549 | 90875418 | A | AAAAAG | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(79): Show |
a0001 | a0001c0002a0001c0005a0001c0010others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(29): Show | a0001c0002t0001g0004 a0001c0002t0001g0028 a0001c0002t0001g0038 others(75): Show |
82 | 374 | 0.2193 | 5 | c.118 others(22): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SYK_chr9_90796819_90903549 | 90881679 | C | CAAAAA | intron_variant | MODIFIER | HG00597.hp2 HG00642.hp1 HG00673.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(11): Show | a0001c0001t0002g0027 a0001c0001t0002g0030 a0001c0001t0002g0105 others(41): Show |
44 | 68 | 0.6471 | 5 | c.158 others(24): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SYK_chr9_90796819_90903549 | 90884788 | T | TATAAC | intron_variant | MODIFIER | NA18943.hp2 NA18947.hp1 NA18953.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0006g0322 |
3 | 369 | 0.0081 | 5 | c.158 others(24): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | chr9 | TogoVar | |||||||
SYK_chr9_90796819_90903549 | 90884812 | T | TATAAC | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG01891.hp2 others(15): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0320 a0001c0001t0001g0321 a0001c0001t0002g0173 others(15): Show |
18 | 361 | 0.0499 | 5 | c.158 others(24): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SYMPK_chr19_45810410_45868147 | 45839830 | T | TCAAAA | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00639.hp2 others(65): Show |
a0001a0002 | a0001c0004a0001c0007a0001c0010others(4): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0003others(6): Show | a0001c0004t0001g0318 a0001c0004t0001g0320 a0001c0004t0001g0321 others(57): Show |
68 | 389 | 0.1748 | 5 | c.108 others(24): Show |
SYMPK | ENSG00000125755.19 | transcript | ENST00000245934.12 | protein_coding | 9/26 | chr19 | TogoVar | |||||||
SYN1_chrX_47566901_47624857 | 47589867 | A | ATAACT | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00423.hp2 others(122): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0044 a0001c0001t0001g0045 others(117): Show |
125 | 280 | 0.4464 | 5 | c.775 others(24): Show |
SYN1 | ENSG00000008056.14 | transcript | ENST00000295987.13 | protein_coding | 5/12 | chrX | TogoVar | |||||||
SYN1_chrX_47566901_47624857 | 47621323 | T | TTTTTC | upstream_gene_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG00738.hp1 others(58): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(55): Show |
61 | 280 | 0.2179 | 5 | c.-15 others(16): Show |
SYN1 | ENSG00000008056.14 | transcript | ENST00000295987.13 | protein_coding | 1467 | chrX | TogoVar | |||||||
SYN2_chr3_11999388_12197032 | 12050711 | C | CTTTTT | intron_variant | MODIFIER | HG01258.hp2 HG02257.hp1 HG02622.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0001 | a0001c0001t0005g0261 a0002c0002t0001g0058 a0002c0002t0001g0069 others(9): Show |
12 | 15 | 0.8000 | 5 | c.377 others(24): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32549888 | C | CAAAAA | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00621.hp2 others(34): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(25): Show | a0001c0001t0001g0056 a0001c0001t0001g0097 a0001c0001t0001g0179 others(34): Show |
37 | 61 | 0.6066 | 5 | c.775 others(22): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32602438 | T | TTTTTG | intron_variant | MODIFIER | HG01099.hp1 HG01496.hp2 HG01884.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0005a0001c0001t0010a0001c0001t0014others(10): Show | a0001c0001t0005g0158 a0001c0001t0010g0166 a0001c0001t0010g0183 others(16): Show |
19 | 181 | 0.1050 | 5 | c.712 others(22): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32603356 | C | CAAAAA | intron_variant | MODIFIER | HG00735.hp2 HG00738.hp2 HG01069.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0056 a0001c0001t0003g0070 a0001c0001t0003g0107 others(8): Show |
11 | 83 | 0.1325 | 5 | c.712 others(22): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32610565 | T | TTTTTG | intron_variant | MODIFIER | HG00140.hp1 HG00673.hp1 HG01106.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(1): Show | a0001c0001t0001g0117 a0001c0001t0002g0045 a0001c0001t0002g0057 others(2): Show |
5 | 52 | 0.0962 | 5 | c.712 others(24): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32641607 | C | CAAAAA | intron_variant | MODIFIER | HG02559.hp2 HG02717.hp2 HG02818.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0001c0001t0010a0001c0001t0021others(5): Show | a0001c0001t0008g0005 a0001c0001t0010g0087 a0001c0001t0021g0063 others(5): Show |
8 | 76 | 0.1053 | 5 | c.712 others(24): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32644101 | A | AAAGAG | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG00741.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0051 a0001c0001t0001g0097 a0001c0001t0001g0179 others(21): Show |
24 | 54 | 0.4444 | 5 | c.712 others(24): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32664584 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG00673.hp1 others(24): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0036 a0001c0001t0001g0097 a0001c0001t0002g0007 others(24): Show |
27 | 68 | 0.3971 | 5 | c.712 others(24): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32679839 | C | CTTTTT | intron_variant | MODIFIER | HG01496.hp1 HG02055.hp1 HG02145.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0009a0001c0001t0010a0001c0001t0011others(10): Show | a0001c0001t0009g0019 a0001c0001t0010g0094 a0001c0001t0011g0109 others(11): Show |
14 | 19 | 0.7368 | 5 | c.712 others(24): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32832673 | G | GTATTT | intron_variant | MODIFIER | HG00621.hp2 HG02970.hp2 HG03540.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0001c0001t0057a0002c0002t0004 | a0001c0001t0012g0115 a0001c0001t0057g0168 a0002c0002t0004g0140 |
3 | 183 | 0.0164 | 5 | c.711 others(24): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32890072 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG01175.hp2 HG01978.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(5): Show | a0001c0001t0001g0114 a0001c0001t0002g0045 a0001c0001t0009g0019 others(5): Show |
8 | 91 | 0.0879 | 5 | c.462 others(24): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 4/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32925866 | C | CTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00673.hp2 HG00735.hp2 others(25): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0033 a0001c0001t0001g0113 a0001c0001t0002g0014 others(25): Show |
28 | 30 | 0.9333 | 5 | c.461 others(22): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 4/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32954099 | C | CAACAA | intron_variant | MODIFIER | HG00621.hp1 HG01978.hp1 HG02738.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(3): Show | a0001c0001t0001g0035 a0001c0001t0001g0036 a0001c0001t0002g0174 others(4): Show |
7 | 81 | 0.0864 | 5 | c.370 others(24): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 3/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32965243 | C | CTATAA | intron_variant | MODIFIER | HG00323.hp1 HG00673.hp1 HG00735.hp1 others(41): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0011 a0001c0001t0001g0029 a0001c0001t0001g0048 others(41): Show |
44 | 184 | 0.2391 | 5 | c.369 others(24): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 3/13 | chr22 | TogoVar | |||||||
SYNCRIP_chr6_85608976_85647886 | 85638380 | C | CAAAAA | intron_variant | MODIFIER | HG01891.hp2 HG02132.hp2 HG02155.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0061 a0001c0001t0001g0118 others(7): Show |
11 | 51 | 0.2157 | 5 | c.376 others(22): Show |
SYNCRIP | ENSG00000135316.20 | transcript | ENST00000369622.8 | protein_coding | 4/10 | chr6 | TogoVar | |||||||
SYNC_chr1_32674906_32707770 | 32682443 | A | AAAAAT | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00621.hp2 others(64): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0009a0002c0002t0003 | a0001c0001t0004g0002 a0001c0001t0004g0036 a0001c0001t0004g0037 others(43): Show |
67 | 316 | 0.2120 | 5 | c.143 others(22): Show |
SYNC | ENSG00000162520.15 | transcript | ENST00000409190.8 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
SYNC_chr1_32674906_32707770 | 32682444 | A | AAAATG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(230): Show |
a0001a0003a0005others(3): Show | a0001c0001a0001c0006a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(15): Show | a0001c0001t0001g0003 a0001c0001t0001g0005 a0001c0001t0001g0006 others(189): Show |
233 | 316 | 0.7373 | 5 | c.143 others(22): Show |
SYNC | ENSG00000162520.15 | transcript | ENST00000409190.8 | protein_coding | 4/4 | chr1 | TogoVar | |||||||
SYNDIG1_chr20_24464629_24671616 | 24488160 | C | CACTCA | intron_variant | MODIFIER | HG00738.hp1 HG01169.hp1 HG01261.hp1 others(42): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(42): Show |
45 | 268 | 0.1679 | 5 | c.-79 others(24): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SYNDIG1_chr20_24464629_24671616 | 24527524 | C | CTTTCT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(198): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(198): Show |
201 | 268 | 0.7500 | 5 | c.-78 others(24): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SYNE1_chr6_152116687_152173312 | 152125171 | A | AAATCC | intron_variant | MODIFIER | HG02280.hp1 HG03098.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0019 | a0001c0019t0005 | a0001c0019t0005g0096 a0001c0019t0005g0103 a0001c0019t0005g0133 others(1): Show |
4 | 434 | 0.0092 | 5 | c.268 others(24): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000354674.5 | protein_coding | 17/17 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152125171 | A | AAATCC | intron_variant | MODIFIER | HG02280.hp1 HG03098.hp1 HG03139.hp1 others(1): Show |
a0006a0022a0059others(1): Show | a0006c0024a0022c0114a0059c0121others(1): Show | a0006c0024t0004a0022c0114t0004a0059c0121t0004others(1): Show | a0006c0024t0004g0056 a0022c0114t0004g0018 a0059c0121t0004g0115 others(1): Show |
4 | 172 | 0.0233 | 5 | c.261 others(26): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 145/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152328371 | C | CTTATT | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01167.hp1 others(26): Show |
a0001a0002a0004others(22): Show | a0001c0008a0001c0140a0002c0058others(25): Show | a0001c0008t0007a0001c0140t0006a0002c0058t0005others(25): Show | a0001c0008t0007g0151 a0001c0008t0007g0153 a0001c0140t0006g0152 others(26): Show |
29 | 172 | 0.1686 | 5 | c.149 others(26): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 78/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152371900 | A | AAGGAC | intron_variant | MODIFIER | HG01496.hp2 HG02109.hp1 |
a0044a0053 | a0044c0074a0053c0069 | a0044c0074t0001a0053c0069t0004 | a0044c0074t0001g0075 a0053c0069t0004g0010 |
2 | 142 | 0.0141 | 5 | c.950 others(24): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 59/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152374922 | A | ATTATT | intron_variant | MODIFIER | HG00544.hp2 HG01109.hp1 HG01175.hp1 others(35): Show |
a0007a0010a0015others(31): Show | a0007c0002a0010c0130a0015c0153others(32): Show | a0007c0002t0003a0007c0002t0006a0010c0130t0003others(34): Show | a0007c0002t0003g0081 a0007c0002t0006g0164 a0010c0130t0003g0071 others(35): Show |
38 | 160 | 0.2375 | 5 | c.932 others(24): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 58/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152392688 | T | TATAAA | intron_variant | MODIFIER | HG01081.hp2 HG02258.hp1 HG02572.hp2 others(6): Show |
a0037a0057a0062others(6): Show | a0037c0039a0057c0118a0062c0040others(6): Show | a0037c0039t0002a0057c0118t0004a0062c0040t0002others(6): Show | a0037c0039t0002g0052 a0057c0118t0004g0009 a0062c0040t0002g0025 others(6): Show |
9 | 172 | 0.0523 | 5 | c.771 others(24): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 51/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152415789 | T | TAAAAA | intron_variant | MODIFIER | HG01167.hp1 HG01346.hp1 HG01891.hp2 others(8): Show |
a0006a0012a0039others(8): Show | a0006c0024a0012c0060a0039c0012others(8): Show | a0006c0024t0004a0012c0060t0012a0039c0012t0002others(8): Show | a0006c0024t0004g0056 a0012c0060t0012g0141 a0039c0012t0002g0066 others(8): Show |
11 | 62 | 0.1774 | 5 | c.605 others(22): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 41/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152484217 | C | CAAAAT | intron_variant | MODIFIER | HG01081.hp2 HG02572.hp2 HG02622.hp2 others(3): Show |
a0021a0037a0062others(3): Show | a0021c0070a0037c0039a0062c0040others(3): Show | a0021c0070t0014a0037c0039t0002a0062c0040t0002others(3): Show | a0021c0070t0014g0003 a0037c0039t0002g0052 a0062c0040t0002g0025 others(3): Show |
6 | 172 | 0.0349 | 5 | c.118 others(22): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 13/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152489457 | C | CTTTTT | intron_variant | MODIFIER | HG01496.hp2 HG02622.hp1 HG02630.hp1 others(3): Show |
a0021a0044a0063others(3): Show | a0021c0073a0044c0074a0063c0015others(3): Show | a0021c0073t0001a0044c0074t0001a0063c0015t0005others(3): Show | a0021c0073t0001g0086 a0044c0074t0001g0075 a0063c0015t0005g0090 others(3): Show |
6 | 66 | 0.0909 | 5 | c.940 others(20): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 11/145 | chr6 | TogoVar | |||||||
SYNE2_chr14_63848004_64231433 | 63865747 | A | AAATTT | intron_variant | MODIFIER | HG01884.hp1 HG02922.hp2 HG02965.hp1 others(3): Show |
a0016a0019a0050others(1): Show | a0016c0014a0019c0031a0019c0032others(2): Show | a0016c0014t0001a0019c0031t0004a0019c0032t0001others(2): Show | a0016c0014t0001g0098 a0016c0014t0001g0099 a0019c0031t0004g0102 others(3): Show |
6 | 148 | 0.0405 | 5 | c.-52 others(24): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 1/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63872761 | C | CAAAAA | intron_variant | MODIFIER | HG00438.hp1 HG01109.hp2 HG03492.hp1 others(2): Show |
a0001a0006a0015others(2): Show | a0001c0005a0006c0010a0015c0016others(2): Show | a0001c0005t0001a0006c0010t0004a0015c0016t0001others(2): Show | a0001c0005t0001g0110 a0006c0010t0004g0113 a0015c0016t0001g0150 others(2): Show |
5 | 59 | 0.0847 | 5 | c.-52 others(24): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 1/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63895775 | C | CAAAAA | intron_variant | MODIFIER | HG00423.hp1 HG01516.hp1 HG02523.hp2 others(6): Show |
a0003a0010a0012others(2): Show | a0003c0002a0003c0015a0010c0006others(3): Show | a0003c0002t0001a0003c0002t0009a0003c0015t0002others(4): Show | a0003c0002t0001g0005 a0003c0002t0001g0010 a0003c0002t0009g0009 others(6): Show |
9 | 51 | 0.1765 | 5 | c.-51 others(24): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 1/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63924832 | G | GTTTTT | intron_variant | MODIFIER | HG02109.hp1 HG02886.hp1 HG02970.hp2 others(2): Show |
a0007a0017a0020others(2): Show | a0007c0007a0017c0012a0020c0024others(2): Show | a0007c0007t0001a0017c0012t0001a0020c0024t0001others(2): Show | a0007c0007t0001g0144 a0017c0012t0001g0097 a0020c0024t0001g0146 others(2): Show |
5 | 55 | 0.0909 | 5 | c.79+ others(22): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 2/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64027893 | G | GTTTTA | intron_variant | MODIFIER | HG00423.hp2 NA18949.hp1 |
a0013 | a0013c0020 | a0013c0020t0001 | a0013c0020t0001g0063 a0013c0020t0001g0133 |
2 | 148 | 0.0135 | 5 | c.671 others(22): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 43/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64055832 | T | TAATAA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(109): Show |
a0001a0002a0004others(52): Show | a0001c0004a0001c0005a0001c0009others(68): Show | a0001c0004t0002a0001c0004t0004a0001c0005t0001others(76): Show | a0001c0004t0002g0071 a0001c0004t0002g0131 a0001c0004t0004g0104 others(109): Show |
112 | 148 | 0.7568 | 5 | c.974 others(22): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 48/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64055839 | A | ATAAAG | intron_variant | MODIFIER | HG02922.hp2 NA20129.hp1 |
a0019a0071 | a0019c0031a0071c0030 | a0019c0031t0004a0071c0030t0003 | a0019c0031t0004g0102 a0071c0030t0003g0101 |
2 | 148 | 0.0135 | 5 | c.974 others(22): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 48/115 | chr14 | TogoVar | |||||||
SYNE2_chr14_63848004_64231433 | 64199724 | A | AAAAAT | intron_variant | MODIFIER | HG01081.hp2 HG01891.hp2 HG02109.hp1 others(2): Show |
a0005a0037 | a0005c0013a0005c0022a0037c0023 | a0005c0013t0001a0005c0022t0001a0037c0023t0001 | a0005c0013t0001g0138 a0005c0013t0001g0139 a0005c0022t0001g0056 others(2): Show |
5 | 148 | 0.0338 | 5 | c.180 others(26): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 99/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95488697 | G | GGAGGA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00609.hp1 others(75): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0011a0001c0019others(29): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(71): Show | a0001c0001t0001g0264 a0001c0001t0004g0021 a0001c0001t0011g0031 others(74): Show |
78 | 182 | 0.4286 | 5 | c.-14 others(24): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95499856 | C | CTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG01099.hp2 HG01123.hp2 others(21): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0011a0001c0063others(15): Show | a0001c0001t0077a0001c0001t0101a0001c0001t0155others(21): Show | a0001c0001t0077g0283 a0001c0001t0101g0284 a0001c0001t0155g0219 others(21): Show |
24 | 145 | 0.1655 | 5 | c.-15 others(24): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
SYNGR1_chr22_39344991_39390575 | 39347953 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG02273.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0013 | a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0001t0001g0055 others(4): Show |
7 | 52 | 0.1346 | 5 | c.-20 others(16): Show |
SYNGR1 | ENSG00000100321.15 | transcript | ENST00000328933.10 | protein_coding | 2037 | chr22 | TogoVar | |||||||
SYNGR1_chr22_39344991_39390575 | 39348392 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01175.hp1 HG01346.hp1 others(30): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0119 a0001c0001t0001g0180 a0001c0001t0001g0181 others(29): Show |
33 | 70 | 0.4714 | 5 | c.-16 others(16): Show |
SYNGR1 | ENSG00000100321.15 | transcript | ENST00000328933.10 | protein_coding | 1598 | chr22 | TogoVar | |||||||
SYNGR1_chr22_39344991_39390575 | 39380616 | C | CTTTTT | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02145.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0125 a0001c0001t0003g0166 a0001c0001t0003g0168 others(12): Show |
15 | 205 | 0.0732 | 5 | c.484 others(22): Show |
SYNGR1 | ENSG00000100321.15 | transcript | ENST00000328933.10 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SYNGR3_chr16_1984970_1999275 | 1995120 | T | TGTTTG | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01099.hp1 HG01257.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 9 | 295 | 0.0305 | 5 | c.*20 others(16): Show |
SYNGR3 | ENSG00000127561.16 | transcript | ENST00000248121.7 | protein_coding | 846 | chr16 | TogoVar | |||||||
SYNGR3_chr16_1984970_1999275 | 1995120 | T | TTTTTG | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00423.hp2 others(108): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0008 others(7): Show |
111 | 397 | 0.2796 | 5 | c.*20 others(16): Show |
SYNGR3 | ENSG00000127561.16 | transcript | ENST00000248121.7 | protein_coding | 846 | chr16 | TogoVar |