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 | TTTATATA others(14): Show |
intron_variant | MODIFIER | HG00408.hp1 | a0002 | a0002c0160 | a0002c0160t0007 | a0002c0160t0007g0017 | 1 | 362 | 0.0028 | 21 | c.982 others(40): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 40/47 | chr9 | TogoVar | ||||||
SVEP1_chr9_110360248_110584741 | 110428399 | A | ACACACAC others(14): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0085 | a0085c0146 | a0085c0146t0004 | a0085c0146t0004g0052 | 1 | 362 | 0.0028 | 21 | c.580 others(38): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 35/47 | chr9 | TogoVar | ||||||
SVEP1_chr9_110360248_110584741 | 110434666 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0010 | a0010c0013 | a0010c0013t0003 | a0010c0013t0003g0195 | 1 | 362 | 0.0028 | 21 | c.488 others(38): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 29/47 | chr9 | TogoVar | ||||||
SVEP1_chr9_110360248_110584741 | 110466760 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01109.hp2 HG02818.hp1 others(4): Show |
a0003a0006a0012others(3): Show | a0003c0004a0006c0003a0012c0009others(3): Show | a0003c0004t0001a0006c0003t0002a0012c0009t0001others(4): Show | a0003c0004t0001g0143a0006c0003t0002g0111a0012c0009t0001g0218others(4): Show | 7 | 362 | 0.0193 | 21 | c.316 others(38): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 17/47 | chr9 | TogoVar | ||||||
SVIL_chr10_29452338_29639971 | 29506676 | C | CCTGGAGG others(14): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0274 | 1 | 290 | 0.0035 | 21 | c.351 others(40): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 17/37 | chr10 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138642831 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA18970.hp2 NA19000.hp2 NA19004.hp2 others(4): Show |
a0001a0003a0007 | a0001c0001a0003c0007a0003c0009others(2): Show | a0001c0001t0001a0003c0007t0004a0003c0009t0002others(3): Show | a0001c0001t0001g0172a0003c0007t0004g0074a0003c0009t0002g0343others(4): Show | 7 | 360 | 0.0194 | 21 | c.789 others(38): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 9/15 | chr7 | TogoVar | ||||||
SVOPL_chr7_138589285_138706362 | 138693576 | A | AGAAAGAA others(14): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0112 | 1 | 360 | 0.0028 | 21 | c.-35 others(38): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 1/15 | chr7 | TogoVar | ||||||
SVOP_chr12_108902741_109026068 | 108907146 | T | TCTCCTCC others(14): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00544.hp2 others(80): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0015others(22): Show | a0001c0001t0002g0053a0001c0001t0002g0057a0001c0001t0002g0063others(80): Show | 83 | 288 | 0.2882 | 21 | c.*53 others(32): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 594 | chr12 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9725570 | T | TATATATA others(14): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0186 | 1 | 294 | 0.0034 | 21 | c.642 others(36): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 4/11 | chr11 | TogoVar | ||||||
SYCE1L_chr16_77194408_77218215 | 77215742 | C | CTCTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG01106.hp1 HG01934.hp1 others(18): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002a0001c0002t0001g0040a0001c0002t0001g0041others(5): Show | 21 | 442 | 0.0475 | 21 | c.*28 others(32): Show |
SYCE1L | ENSG00000205078.6 | transcript | ENST00000378644.5 | protein_coding | 2528 | chr16 | TogoVar | ||||||
SYCE2_chr19_12893786_12924293 | 12920125 | A | ACACACAC others(14): Show |
upstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG00673.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(7): Show | 13 | 378 | 0.0344 | 21 | c.-86 others(30): Show |
SYCE2 | ENSG00000161860.8 | transcript | ENST00000293695.8 | protein_coding | 833 | chr19 | TogoVar | ||||||
SYCE2_chr19_12893786_12924293 | 12920127 | A | ACACACAC others(14): Show |
upstream_gene_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 | 1 | 378 | 0.0027 | 21 | c.-87 others(30): Show |
SYCE2 | ENSG00000161860.8 | transcript | ENST00000293695.8 | protein_coding | 835 | chr19 | TogoVar | ||||||
SYCP1_chr1_114849863_115000370 | 114857136 | C | CAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02723.hp2 HG03195.hp2 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0125a0002c0004t0001g0126 | 2 | 312 | 0.0064 | 21 | c.194 others(34): Show |
SYCP1 | ENSG00000198765.12 | transcript | ENST00000369522.8 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SYCP2L_chr6_10882052_10979309 | 10907892 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02027.hp1 HG02155.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0004a0003c0006 | a0001c0001t0001a0001c0001t0002a0003c0004t0001others(1): Show | a0001c0001t0001g0186a0001c0001t0001g0321a0001c0001t0002g0009others(5): Show | 8 | 354 | 0.0226 | 21 | c.819 others(36): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 10/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SYCP3_chr12_101723648_101744462 | 101735871 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 426 | 0.0024 | 21 | c.236 others(36): Show |
SYCP3 | ENSG00000139351.15 | transcript | ENST00000392924.2 | protein_coding | 4/8 | chr12 | TogoVar | ||||||
SYK_chr9_90796819_90903549 | 90802815 | T | TAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00639.hp2 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0055a0001c0001t0004g0052a0001c0001t0004g0053others(9): Show | 12 | 376 | 0.0319 | 21 | c.-42 others(36): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SYK_chr9_90796819_90903549 | 90814098 | A | ATATCAGA others(14): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0136a0001c0001t0003g0137 | 2 | 376 | 0.0053 | 21 | c.-42 others(40): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
SYN3_chr22_32502820_33063381 | 32572243 | C | CTCCTTCC others(14): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0123 | 1 | 184 | 0.0054 | 21 | c.774 others(40): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32710645 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | NA18980.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 184 | 0.0054 | 21 | c.712 others(42): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32759898 | T | TACCCACC others(14): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG01069.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0008a0001c0001t0001g0033a0001c0001t0001g0086others(19): Show | 22 | 184 | 0.1196 | 21 | c.711 others(42): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32956062 | A | ATATATAT others(14): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0090 | 1 | 184 | 0.0054 | 21 | c.369 others(40): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 3/13 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32991338 | A | AAATAATA others(14): Show |
intron_variant | MODIFIER | HG03486.hp1 | a0002 | a0002c0002 | a0002c0002t0048 | a0002c0002t0048g0084 | 1 | 184 | 0.0054 | 21 | c.312 others(40): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 2/13 | chr22 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 33028643 | A | ATGGTGGT others(14): Show |
intron_variant | MODIFIER | HG03098.hp1 NA18969.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0052 | a0001c0001t0002g0037a0001c0003t0052g0104 | 2 | 184 | 0.0109 | 21 | c.-16 others(42): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | ||||||
SYNCRIP_chr6_85608976_85647886 | 85623571 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02559.hp2 NA19030.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0051 | 2 | 364 | 0.0055 | 21 | c.802 others(36): Show |
SYNCRIP | ENSG00000135316.20 | transcript | ENST00000369622.8 | protein_coding | 7/10 | chr6 | TogoVar | ||||||
SYNCRIP_chr6_85608976_85647886 | 85623579 | A | AAAAAAAA others(14): Show |
intron_variant | MODIFIER | HG02071.hp2 NA19058.hp1 NA19074.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0251a0001c0001t0001g0257a0001c0001t0001g0274others(1): Show | 4 | 364 | 0.0110 | 21 | c.802 others(36): Show |
SYNCRIP | ENSG00000135316.20 | transcript | ENST00000369622.8 | protein_coding | 7/10 | chr6 | TogoVar | ||||||
SYNCRIP_chr6_85608976_85647886 | 85623579 | A | AAAAAAAC others(14): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 364 | 0.0028 | 21 | c.802 others(36): Show |
SYNCRIP | ENSG00000135316.20 | transcript | ENST00000369622.8 | protein_coding | 7/10 | chr6 | TogoVar | ||||||
SYNCRIP_chr6_85608976_85647886 | 85623579 | A | AAAAAAAC others(14): Show |
intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 | 1 | 364 | 0.0028 | 21 | c.802 others(36): Show |
SYNCRIP | ENSG00000135316.20 | transcript | ENST00000369622.8 | protein_coding | 7/10 | chr6 | TogoVar | ||||||
SYNC_chr1_32674906_32707770 | 32687833 | A | AATTATTA others(14): Show |
intron_variant | MODIFIER | HG00544.hp1 HG01123.hp2 HG02132.hp2 others(17): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(4): Show | a0001c0001t0001g0197a0001c0001t0005g0035a0001c0001t0005g0247others(14): Show | 20 | 318 | 0.0629 | 21 | c.123 others(40): Show |
SYNC | ENSG00000162520.15 | transcript | ENST00000409190.8 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
SYNC_chr1_32674906_32707770 | 32687854 | T | TATTATTA others(14): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0036 | 2 | 318 | 0.0063 | 21 | c.123 others(40): Show |
SYNC | ENSG00000162520.15 | transcript | ENST00000409190.8 | protein_coding | 2/4 | chr1 | TogoVar | ||||||
SYNE1_chr6_152116687_152642362 | 152188984 | A | AAATATAT others(14): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0008 | a0008c0129 | a0008c0129t0003 | a0008c0129t0003g0070 | 1 | 174 | 0.0058 | 21 | c.233 others(40): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63919972 | G | GTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00741.hp1 HG02145.hp2 NA18975.hp2 |
a0003a0018 | a0003c0002a0018c0088 | a0003c0002t0001a0003c0002t0006a0018c0088t0001 | a0003c0002t0001g0006a0003c0002t0006g0093a0018c0088t0001g0017 | 3 | 150 | 0.0200 | 21 | c.79+ others(38): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 2/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SYNE2_chr14_63848004_64231433 | 64049429 | A | AAATAATA others(14): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02970.hp1 HG03041.hp2 others(1): Show |
a0005a0010 | a0005c0022a0010c0006 | a0005c0022t0001a0010c0006t0006 | a0005c0022t0001g0116a0010c0006t0006g0037a0010c0006t0006g0039others(1): Show | 4 | 150 | 0.0267 | 21 | c.737 others(38): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 46/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
SYNGR1_chr22_39344991_39390575 | 39365988 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 300 | 0.0033 | 21 | c.100 others(38): Show |
SYNGR1 | ENSG00000100321.15 | transcript | ENST00000328933.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
SYNM_chr15_99100080_99140593 | 99105358 | G | GGCCGAGG others(14): Show |
disruptive_inframe_insertion | MODERATE | HG00733.hp1 | a0045 | a0045c0071 | a0045c0071t0007 | a0045c0071t0007g0194 | 1 | 420 | 0.0024 | 21 | c.167 others(28): Show |
p.Gly others(11): Show |
SYNM | ENSG00000182253.15 | transcript | ENST00000336292.11 | protein_coding | 1/4 | 308/7353 | 188/4698 | 63/1565 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |
SYNPO2_chr4_118883854_119066247 | 118890697 | T | TCTCTCTC others(14): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0003 | a0003c0002 | a0003c0002t0016 | a0003c0002t0016g0058 | 1 | 310 | 0.0032 | 21 | c.105 others(38): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | chr4 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63408142 | A | AAAAGAAA others(14): Show |
intron_variant | MODIFIER | HG01069.hp2 HG03225.hp1 HG03540.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0163a0001c0001t0002g0034a0001c0001t0002g0144others(1): Show | 4 | 246 | 0.0163 | 21 | c.85- others(38): 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(14): Show |
intron_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 | 1 | 246 | 0.0041 | 21 | c.85- others(38): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SYNPR_chr3_63273308_63621924 | 63540930 | A | ACACACAC others(14): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0169 | 1 | 246 | 0.0041 | 21 | c.210 others(40): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 3/5 | chr3 | TogoVar | ||||||
SYNPR_chr3_63273308_63621924 | 63606417 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG01496.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009 | a0001c0001t0001g0016a0001c0001t0001g0076a0001c0001t0001g0083others(4): Show | 7 | 246 | 0.0285 | 21 | c.409 others(38): Show |
SYNPR | ENSG00000163630.11 | transcript | ENST00000478300.6 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
SYNRG_chr17_37509807_37614418 | 37511937 | A | AGTTTTTT others(14): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG02280.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0268a0002c0002t0002g0008a0002c0002t0002g0229others(1): Show | 4 | 349 | 0.0115 | 21 | c.*70 others(32): Show |
SYNRG | ENSG00000275066.5 | transcript | ENST00000612223.5 | protein_coding | 2869 | chr17 | TogoVar | ||||||
SYT14_chr1_209933217_210176315 | 209938109 | T | TCCCTCGC others(14): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02559.hp1 |
a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0104a0001c0001t0031g0105 | 2 | 358 | 0.0056 | 21 | c.-15 others(30): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 107 | chr1 | TogoVar | ||||||
SYT14_chr1_209933217_210176315 | 210000613 | C | CTTTTTTT others(14): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01074.hp2 HG01099.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0026others(5): Show | a0001c0001t0003g0115a0001c0001t0003g0148a0001c0001t0003g0174others(13): Show | 16 | 358 | 0.0447 | 21 | c.62- others(38): Show |
SYT14 | ENSG00000143469.21 | transcript | ENST00000367019.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SYT1_chr12_78859774_79457008 | 79044940 | G | GGGGGTCG others(14): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0051 | 1 | 62 | 0.0161 | 21 | c.-83 others(38): Show |
SYT1 | ENSG00000067715.15 | transcript | ENST00000261205.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
SYT3_chr19_50616977_50644881 | 50617043 | A | ATATATAT others(14): Show |
downstream_gene_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0232 | 1 | 388 | 0.0026 | 21 | c.*54 others(32): Show |
SYT3 | ENSG00000213023.11 | transcript | ENST00000600079.6 | protein_coding | 4933 | chr19 | TogoVar | ||||||
SYT3_chr19_50616977_50644881 | 50617043 | A | ATATATTT others(14): Show |
downstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0249 | 1 | 388 | 0.0026 | 21 | c.*54 others(32): Show |
SYT3 | ENSG00000213023.11 | transcript | ENST00000600079.6 | protein_coding | 4933 | chr19 | TogoVar | ||||||
SYT5_chr19_55166196_55185289 | 55170872 | C | CTCTCTCT others(14): Show |
downstream_gene_variant | MODIFIER | HG03139.hp2 | a0005 | a0005c0005 | a0005c0005t0060 | a0005c0005t0060g0088 | 1 | 410 | 0.0024 | 21 | c.*26 others(32): Show |
SYT5 | ENSG00000129990.15 | transcript | ENST00000354308.8 | protein_coding | 323 | chr19 | TogoVar | ||||||
SYT5_chr19_55166196_55185289 | 55170873 | T | TCTCTCTC others(14): Show |
downstream_gene_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 410 | 0.0024 | 21 | c.*26 others(32): Show |
SYT5 | ENSG00000129990.15 | transcript | ENST00000354308.8 | protein_coding | 322 | chr19 | TogoVar | ||||||
SYTL3_chr6_158645054_158769871 | 158746453 | A | ATATTATT others(14): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117a0001c0001t0001g0119 | 2 | 292 | 0.0069 | 21 | c.103 others(38): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SYTL3_chr6_158645054_158769871 | 158746456 | A | ATATTATT others(14): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118a0001c0001t0001g0152 | 2 | 292 | 0.0069 | 21 | c.103 others(38): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
SYTL3_chr6_158645054_158769871 | 158765380 | T | TTTTTAGT others(14): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG01069.hp1 others(13): Show |
a0001a0004a0005 | a0001c0001a0004c0003a0005c0007 | a0001c0001t0001a0004c0003t0001a0005c0007t0001 | a0001c0001t0001g0020a0001c0001t0001g0021a0001c0001t0001g0031others(13): Show | 16 | 292 | 0.0548 | 21 | c.*77 others(30): Show |
SYTL3 | ENSG00000164674.17 | transcript | ENST00000611299.5 | protein_coding | 510 | chr6 | TogoVar |