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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SVIL_chr10_29452338_29639971 | 29509330 | GGAGAGAG others(15): Show |
G | intron_variant | MODIFIER | HG01106.hp1 HG01243.hp1 HG02055.hp2 others(3): Show |
a0001a0012a0021others(1): Show | a0001c0130a0012c0020a0021c0118others(1): Show | a0001c0130t0003a0012c0020t0005a0021c0118t0001others(1): Show | a0001c0130t0003g0269 a0012c0020t0005g0017 a0012c0020t0005g0155 others(3): Show |
6 | 78 | 0.0769 | -22 | c.351 others(41): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 17/37 | chr10 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9675324 | AGAGAGAG others(15): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01109.hp2 others(23): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001others(1): Show | a0001c0002t0002a0001c0002t0030a0001c0003t0003others(3): Show | a0001c0002t0002g0133 a0001c0002t0002g0141 a0001c0002t0002g0156 others(23): Show |
26 | 292 | 0.0890 | -22 | c.99+ others(39): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9725551 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(13): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0018a0002c0001t0022 | a0002c0001t0001g0057 a0002c0001t0001g0266 a0002c0001t0001g0267 others(13): Show |
16 | 249 | 0.0643 | -22 | c.642 others(37): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9725553 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01258.hp1 HG03239.hp1 others(3): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0047 a0002c0001t0001g0084 a0002c0001t0001g0101 others(3): Show |
6 | 276 | 0.0217 | -22 | c.642 others(37): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWI5_chr9_128271276_128293989 | 128291978 | CAAAAAAA others(15): Show |
C | downstream_gene_variant | MODIFIER | NA19009.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 a0001c0001t0001g0221 |
2 | 4 | 0.5000 | -22 | c.*32 others(33): Show |
SWI5 | ENSG00000175854.15 | transcript | ENST00000418976.3 | protein_coding | 2990 | chr9 | TogoVar | |||||||
SYCE1_chr10_133549847_133570583 | 133562261 | ATGTGTGT others(15): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00741.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0007 a0002c0002t0002g0005 a0002c0002t0002g0010 others(3): Show |
27 | 40 | 0.6750 | -22 | c.74- others(37): Show |
SYCE1 | ENSG00000171772.17 | transcript | ENST00000343131.7 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
SYCP2L_chr6_10882052_10979309 | 10888066 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02451.hp2 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0003a0003c0004others(1): Show | a0001c0001t0002a0002c0003t0001a0002c0003t0002others(2): Show | a0001c0001t0002g0165 a0002c0003t0001g0287 a0002c0003t0001g0289 others(27): Show |
31 | 33 | 0.9394 | -22 | c.9+9 others(33): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10891609 | CTCTCTGT others(15): Show |
C | intron_variant | MODIFIER | HG01123.hp2 HG01261.hp2 |
a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0171 a0001c0018t0001g0209 |
2 | 118 | 0.0169 | -22 | c.78+ others(33): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10967454 | GGTGTGTG others(15): Show |
G | intron_variant | MODIFIER | HG01361.hp2 HG02486.hp2 HG02976.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0013a0002c0003 | a0001c0001t0001a0001c0013t0001a0002c0003t0001 | a0001c0001t0001g0133 a0001c0001t0001g0151 a0001c0001t0001g0152 others(3): Show |
6 | 102 | 0.0588 | -22 | c.*37 others(39): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 29/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYCP2_chr20_59858571_59938637 | 59876369 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG02040.hp2 HG02083.hp1 NA19088.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0049 |
3 | 28 | 0.1071 | -22 | c.315 others(39): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 33/44 | chr20 | TogoVar | |||||||
SYCP2_chr20_59858571_59938637 | 59879818 | AATAAATA others(15): Show |
A | intron_variant | MODIFIER | HG02647.hp1 HG03471.hp2 NA18522.hp1 others(1): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0010 | a0001c0001t0001a0001c0004t0001a0005c0010t0001 | a0001c0001t0001g0031 a0001c0001t0001g0175 a0001c0004t0001g0032 others(1): Show |
4 | 92 | 0.0435 | -22 | c.294 others(39): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 31/44 | chr20 | TogoVar | |||||||
SYMPK_chr19_45810410_45868147 | 45864797 | GAGCCGGG others(15): Show |
G | upstream_gene_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0116 | 1 | 390 | 0.0026 | -22 | c.-17 others(33): Show |
SYMPK | ENSG00000125755.19 | transcript | ENST00000245934.12 | protein_coding | 1651 | chr19 | TogoVar | |||||||
SYN1_chrX_47566901_47624857 | 47608263 | GAAGGAAG others(15): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(35): Show |
a0001 | a0001c0002a0001c0003a0001c0011 | a0001c0002t0001a0001c0002t0005a0001c0003t0001others(1): Show | a0001c0002t0001g0018 a0001c0002t0001g0020 a0001c0002t0001g0021 others(35): Show |
38 | 280 | 0.1357 | -22 | c.378 others(39): Show |
SYN1 | ENSG00000008056.14 | transcript | ENST00000295987.13 | protein_coding | 1/12 | chrX | TogoVar | |||||||
SYN2_chr3_11999388_12197032 | 12003811 | TGTGTGTG others(15): Show |
T | upstream_gene_variant | MODIFIER | NA18612.hp1 NA18947.hp1 NA18955.hp1 others(5): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0059 a0002c0002t0001g0067 a0002c0002t0001g0073 others(5): Show |
8 | 251 | 0.0319 | -22 | c.-74 others(31): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 576 | chr3 | TogoVar | |||||||
SYN2_chr3_11999388_12197032 | 12050711 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02280.hp1 HG03041.hp1 others(2): Show |
a0003a0006 | a0003c0003a0006c0006 | a0003c0003t0001a0006c0006t0001 | a0003c0003t0001g0028 a0003c0003t0001g0050 a0006c0006t0001g0024 others(2): Show |
5 | 8 | 0.6250 | -22 | c.377 others(41): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32585978 | ATATGTAT others(15): Show |
A | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0131 | 1 | 183 | 0.0055 | -22 | c.774 others(41): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32825657 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG02622.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0071 | a0001c0001t0001g0011 a0002c0002t0071g0155 |
2 | 7 | 0.2857 | -22 | c.711 others(41): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 33040130 | TTTTTTTG others(15): Show |
T | intron_variant | MODIFIER | HG00323.hp2 HG00741.hp2 HG01109.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0070 | a0001c0001t0002g0018 a0001c0001t0006g0046 a0001c0001t0070g0006 |
3 | 184 | 0.0163 | -22 | c.-16 others(43): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
SYNDIG1_chr20_24464629_24671616 | 24512108 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG03239.hp1 HG03942.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 a0001c0001t0001g0200 |
2 | 29 | 0.0690 | -22 | c.-78 others(41): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SYNE1_chr6_152116687_152642362 | 152186556 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | NA19060.hp2 | a0012 | a0012c0063 | a0012c0063t0012 | a0012c0063t0012g0128 | 1 | 21 | 0.0476 | -22 | c.233 others(43): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152188984 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0089 | a0089c0107 | a0089c0107t0004 | a0089c0107t0004g0013 | 1 | 97 | 0.0103 | -22 | c.233 others(41): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152253813 | GTTTGGTT others(15): Show |
G | intron_variant | MODIFIER | HG01978.hp2 HG02083.hp1 HG02083.hp2 others(1): Show |
a0010a0019a0049others(1): Show | a0010c0006a0019c0004a0049c0133others(1): Show | a0010c0006t0003a0019c0004t0006a0049c0133t0003others(1): Show | a0010c0006t0003g0080 a0019c0004t0006g0161 a0049c0133t0003g0043 others(1): Show |
4 | 128 | 0.0313 | -22 | c.194 others(43): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 104/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152253817 | GGTTTTTT others(15): Show |
G | intron_variant | MODIFIER | HG03225.hp2 NA19066.hp2 |
a0088a0120 | a0088c0029a0120c0162 | a0088c0029t0003a0120c0162t0003 | a0088c0029t0003g0039 a0120c0162t0003g0106 |
2 | 61 | 0.0328 | -22 | c.194 others(43): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 104/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152604984 | GAAAGAAA others(15): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0079 | a0079c0165 | a0079c0165t0002 | a0079c0165t0002g0055 | 1 | 171 | 0.0058 | -22 | c.67+ others(39): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152604986 | AAGAAAGA others(15): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02129.hp2 HG02896.hp1 others(1): Show |
a0004a0006a0055others(1): Show | a0004c0093a0006c0024a0055c0089others(1): Show | a0004c0093t0001a0006c0024t0004a0055c0089t0006others(1): Show | a0004c0093t0001g0028 a0006c0024t0004g0056 a0055c0089t0006g0136 others(1): Show |
4 | 169 | 0.0237 | -22 | c.67+ others(39): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152604998 | AAGAAAGA others(15): Show |
A | intron_variant | MODIFIER | HG02809.hp2 | a0072 | a0072c0077 | a0072c0077t0013 | a0072c0077t0013g0002 | 1 | 167 | 0.0060 | -22 | c.67+ others(39): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE2_chr14_63848004_64231433 | 63974886 | GTGTGTGT others(15): Show |
G | intron_variant | MODIFIER | HG04228.hp2 | a0059 | a0059c0074 | a0059c0074t0002 | a0059c0074t0002g0022 | 1 | 108 | 0.0093 | -22 | c.112 others(41): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 11/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63974892 | GTATATAT others(15): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01257.hp1 HG02129.hp1 others(7): Show |
a0001a0019a0028others(3): Show | a0001c0004a0001c0005a0001c0009others(6): Show | a0001c0004t0002a0001c0005t0003a0001c0009t0002others(6): Show | a0001c0004t0002g0071 a0001c0005t0003g0044 a0001c0009t0002g0027 others(7): Show |
10 | 21 | 0.4762 | -22 | c.112 others(41): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 11/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNJ1_chr21_32623763_32733013 | 32713302 | ATCAACAT others(15): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp1 HG02647.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0045 a0003c0003t0003g0144 a0003c0003t0003g0145 others(3): Show |
6 | 342 | 0.0175 | -22 | c.125 others(41): Show |
SYNJ1 | ENSG00000159082.18 | transcript | ENST00000674351.1 | protein_coding | 2/32 | chr21 | TogoVar | |||||||
SYNJ2_chr6_157976863_158104176 | 157989427 | AATATATA others(15): Show |
A | intron_variant | MODIFIER | HG02630.hp1 | a0002 | a0002c0004 | a0002c0004t0007 | a0002c0004t0007g0247 | 1 | 40 | 0.0250 | -22 | c.127 others(39): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYNJ2_chr6_157976863_158104176 | 158000064 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 62 | 0.0161 | -22 | c.128 others(41): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118894551 | GTCGGGGG others(15): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(111): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0005a0001c0017others(23): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(52): Show | a0001c0001t0001g0071 a0001c0001t0001g0073 a0001c0001t0001g0082 others(111): Show |
114 | 308 | 0.3701 | -22 | c.105 others(39): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118900689 | CTCTCTCT others(15): Show |
C | intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0255 | 1 | 296 | 0.0034 | -22 | c.105 others(41): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118900691 | CTCTCTCT others(15): Show |
C | intron_variant | MODIFIER | HG00639.hp2 | a0002 | a0002c0004 | a0002c0004t0005 | a0002c0004t0005g0046 | 1 | 295 | 0.0034 | -22 | c.105 others(41): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118964297 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0255 | 1 | 58 | 0.0172 | -22 | c.106 others(41): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 119007231 | TATATATA others(15): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG01168.hp1 HG01169.hp1 others(19): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0003a0002c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(17): Show | a0001c0001t0001g0135 a0001c0001t0002g0160 a0002c0003t0001g0185 others(19): Show |
22 | 308 | 0.0714 | -22 | c.106 others(41): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 119061994 | TGCACCCA others(15): Show |
T | downstream_gene_variant | MODIFIER | NA18956.hp2 NA18963.hp1 NA19011.hp1 |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0078 a0003c0002t0001g0089 a0003c0002t0001g0102 |
3 | 308 | 0.0097 | -22 | c.*40 others(33): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 748 | chr4 | TogoVar | |||||||
SYNPO_chr5_150635660_150664207 | 150662506 | CCATCCTC others(15): Show |
C | downstream_gene_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 388 | 0.0026 | -22 | c.*54 others(33): Show |
SYNPO | ENSG00000171992.13 | transcript | ENST00000307662.5 | protein_coding | 3300 | chr5 | TogoVar | |||||||
SYNPR_chr3_63273308_63621924 | 63336519 | CAAAAAAA others(15): Show |
C | intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0038 | 1 | 17 | 0.0588 | -22 | c.84+ others(39): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63494397 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 246 | 0.0041 | -22 | c.209 others(41): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYT14_chr1_209933217_210176315 | 209970662 | CTTTTTTT others(15): Show |
C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00639.hp2 others(53): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0025others(12): Show | a0001c0001t0001g0239 a0001c0001t0001g0243 a0001c0001t0001g0244 others(53): Show |
56 | 76 | 0.7368 | -22 | c.61+ others(39): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYT14_chr1_209933217_210176315 | 209990527 | ATATATAT others(15): Show |
A | intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 334 | 0.0030 | -22 | c.62- others(39): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SYT16_chr14_61807703_62117550 | 61927319 | TTTGTCTT others(15): Show |
T | intron_variant | MODIFIER | HG02717.hp2 | a0004 | a0004c0006 | a0004c0006t0024 | a0004c0006t0024g0017 | 1 | 172 | 0.0058 | -22 | c.-32 others(43): Show |
SYT16 | ENSG00000139973.18 | transcript | ENST00000683842.1 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYT16_chr14_61807703_62117550 | 62092173 | AACACACA others(15): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG01258.hp1 |
a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0093 a0001c0002t0021g0094 |
2 | 15 | 0.1333 | -22 | c.162 others(41): Show |
SYT16 | ENSG00000139973.18 | transcript | ENST00000683842.1 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYT1_chr12_78859774_79457008 | 79224744 | TTTATTTT others(15): Show |
T | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG00741.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0019 a0001c0001t0001g0022 a0001c0001t0001g0027 others(24): Show |
27 | 47 | 0.5745 | -22 | c.166 others(39): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SYT1_chr12_78859774_79457008 | 79308591 | GAAGAAAG others(15): Show |
G | intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0042 | 1 | 56 | 0.0179 | -22 | c.810 others(39): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SYT2_chr1_202585596_202715454 | 202596286 | CACACACA others(15): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02155.hp1 NA19043.hp1 |
a0001 | a0001c0003a0001c0004 | a0001c0003t0011a0001c0004t0067 | a0001c0003t0011g0134 a0001c0004t0067g0076 |
2 | 274 | 0.0073 | -22 | c.*44 others(31): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 9/9 | 449 | chr1 | TogoVar | ||||||
SYT2_chr1_202585596_202715454 | 202640734 | CAGAGAGA others(15): Show |
C | intron_variant | MODIFIER | HG00673.hp1 HG02027.hp2 HG02451.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0024a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0024g0010 a0001c0002t0001g0087 a0001c0002t0002g0110 others(3): Show |
6 | 42 | 0.1429 | -22 | c.-17 others(41): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202640776 | GAGAGAGA others(15): Show |
G | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 1 | 274 | 0.0036 | -22 | c.-17 others(41): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
SYT2_chr1_202585596_202715454 | 202691716 | GGAGAGGG others(15): Show |
G | intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0151 | 1 | 250 | 0.0040 | -22 | c.-18 others(41): Show |
SYT2 | ENSG00000143858.12 | transcript | ENST00000367268.5 | protein_coding | 1/8 | chr1 | TogoVar |