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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SVEP1_chr9_110360248_110584741 | 110506316 | CATGACTA others(8): Show |
C | intron_variant | MODIFIER | HG01993.hp2 | a0073 | a0073c0119 | a0073c0119t0002 | a0073c0119t0002g0263 | 1 | 360 | 0.0028 | -15 | c.130 others(34): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 5/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110511487 | CCTTTTTT others(8): Show |
C | intron_variant | MODIFIER | NA18949.hp2 NA19062.hp2 NA19090.hp1 |
a0006a0019a0109 | a0006c0003a0019c0015a0109c0125 | a0006c0003t0002a0019c0015t0002a0109c0125t0001 | a0006c0003t0002g0150 a0019c0015t0002g0329 a0109c0125t0001g0141 |
3 | 262 | 0.0115 | -15 | c.130 others(34): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 5/47 | chr9 | TogoVar | |||||||
SVEP1_chr9_110360248_110584741 | 110511488 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02886.hp2 HG03098.hp2 |
a0001a0007a0089 | a0001c0053a0007c0080a0089c0145 | a0001c0053t0001a0007c0080t0004a0089c0145t0001 | a0001c0053t0001g0123 a0007c0080t0004g0122 a0089c0145t0001g0301 |
3 | 123 | 0.0244 | -15 | c.130 others(34): Show |
SVEP1 | ENSG00000165124.19 | transcript | ENST00000374469.6 | protein_coding | 5/47 | chr9 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29572779 | AAAGAAAA others(8): Show |
A | intron_variant | MODIFIER | HG03688.hp2 | a0043 | a0043c0076 | a0043c0076t0001 | a0043c0076t0001g0249 | 1 | 288 | 0.0035 | -15 | c.-20 others(34): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 1/37 | chr10 | TogoVar | |||||||
SVIL_chr10_29452338_29639971 | 29582731 | CTAATAAT others(8): Show |
C | intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0035 | a0001c0035t0001 | a0001c0035t0001g0043 | 1 | 112 | 0.0089 | -15 | c.-20 others(36): Show |
SVIL | ENSG00000197321.16 | transcript | ENST00000355867.9 | protein_coding | 1/37 | chr10 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138684779 | TGAAATCA others(8): Show |
T | intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0340 | 1 | 358 | 0.0028 | -15 | c.-34 others(32): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
SVOPL_chr7_138589285_138706362 | 138686414 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0295 | 1 | 358 | 0.0028 | -15 | c.-34 others(32): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 1/15 | chr7 | TogoVar | |||||||
SVOP_chr12_108902741_109026068 | 108907098 | ACTCCTCC others(8): Show |
A | downstream_gene_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0137 | 1 | 200 | 0.0050 | -15 | c.*54 others(26): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 642 | chr12 | TogoVar | |||||||
SVOP_chr12_108902741_109026068 | 108946690 | TTTATTAT others(8): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG01891.hp2 HG02735.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0044a0001c0002t0001others(1): Show | a0001c0001t0002g0158 a0001c0001t0044g0043 a0001c0002t0001g0281 others(1): Show |
4 | 44 | 0.0909 | -15 | c.579 others(32): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 6/15 | chr12 | TogoVar | |||||||
SVOP_chr12_108902741_109026068 | 108982672 | TATCATCA others(8): Show |
T | intron_variant | MODIFIER | HG00544.hp2 HG00642.hp2 HG00738.hp1 others(52): Show |
a0001 | a0001c0002a0001c0004a0001c0006 | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(25): Show | a0001c0002t0001g0097 a0001c0002t0001g0169 a0001c0002t0001g0189 others(52): Show |
55 | 286 | 0.1923 | -15 | c.196 others(30): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
SVOP_chr12_108902741_109026068 | 109004702 | TATTTCAT others(8): Show |
T | intron_variant | MODIFIER | HG02559.hp2 HG03130.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0020a0001c0001t0067a0001c0002t0023 | a0001c0001t0020g0181 a0001c0001t0067g0182 a0001c0002t0023g0183 |
3 | 25 | 0.1200 | -15 | c.35+ others(32): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 1/15 | chr12 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9671572 | ATAGAAAT others(8): Show |
A | intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0256 | 1 | 292 | 0.0034 | -15 | c.99+ others(30): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | chr11 | TogoVar | |||||||
SWI5_chr9_128271276_128293989 | 128291978 | CAAAAAAA others(8): Show |
C | downstream_gene_variant | MODIFIER | HG03490.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0015 |
2 | 4 | 0.5000 | -15 | c.*32 others(26): Show |
SWI5 | ENSG00000175854.15 | transcript | ENST00000418976.3 | protein_coding | 2990 | chr9 | TogoVar | |||||||
SWT1_chr1_185152167_185296781 | 185176286 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp2 others(21): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0189 a0003c0003t0001g0190 a0003c0003t0001g0191 others(21): Show |
24 | 97 | 0.2474 | -15 | c.966 others(32): Show |
SWT1 | ENSG00000116668.13 | transcript | ENST00000367500.9 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SWT1_chr1_185152167_185296781 | 185194577 | AAAAAAAG others(8): Show |
A | intron_variant | MODIFIER | NA19072.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0312 | 1 | 324 | 0.0031 | -15 | c.152 others(34): Show |
SWT1 | ENSG00000116668.13 | transcript | ENST00000367500.9 | protein_coding | 10/18 | chr1 | TogoVar | |||||||
SYAP1_chrX_16714612_16770340 | 16741100 | GAAGGCCA others(8): Show |
G | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0051 | 1 | 288 | 0.0035 | -15 | c.362 others(30): Show |
SYAP1 | ENSG00000169895.6 | transcript | ENST00000380155.4 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SYBU_chr8_109568978_109649822 | 109582644 | TATCATCA others(8): Show |
T | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 322 | 0.0031 | -15 | c.531 others(32): Show |
SYBU | ENSG00000147642.17 | transcript | ENST00000276646.14 | protein_coding | 4/6 | chr8 | TogoVar | |||||||
SYCP2L_chr6_10882052_10979309 | 10888066 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG01496.hp2 HG01884.hp1 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0003a0002c0021others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(3): Show | a0001c0001t0001g0142 a0001c0001t0001g0144 a0001c0001t0002g0143 others(6): Show |
9 | 11 | 0.8182 | -15 | c.9+9 others(26): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYCP2_chr20_59858571_59938637 | 59876369 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG03669.hp2 others(1): Show |
a0001a0012 | a0001c0001a0012c0018 | a0001c0001t0001a0012c0018t0001 | a0001c0001t0001g0068 a0001c0001t0001g0179 a0001c0001t0001g0230 others(1): Show |
4 | 29 | 0.1379 | -15 | c.315 others(32): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 33/44 | chr20 | TogoVar | |||||||
SYCP2_chr20_59858571_59938637 | 59905820 | AAAGATGT others(8): Show |
A | intron_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 274 | 0.0036 | -15 | c.103 others(34): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 15/44 | chr20 | TogoVar | |||||||
SYK_chr9_90796819_90903549 | 90876296 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp2 HG00597.hp1 others(73): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0014others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(17): Show | a0001c0001t0001g0037 a0001c0001t0001g0040 a0001c0001t0001g0056 others(73): Show |
76 | 374 | 0.2032 | -15 | c.118 others(34): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SYMPK_chr19_45810410_45868147 | 45811743 | GTATTATT others(8): Show |
G | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 a0001c0001t0001g0071 |
2 | 232 | 0.0086 | -15 | c.*38 others(26): Show |
SYMPK | ENSG00000125755.19 | transcript | ENST00000245934.12 | protein_coding | 3666 | chr19 | TogoVar | |||||||
SYN1_chrX_47566901_47624857 | 47588798 | GGGGTCAC others(8): Show |
G | intron_variant | MODIFIER | NA18964.hp1 NA18964.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 a0001c0001t0001g0124 |
2 | 280 | 0.0071 | -15 | c.775 others(34): Show |
SYN1 | ENSG00000008056.14 | transcript | ENST00000295987.13 | protein_coding | 5/12 | chrX | TogoVar | |||||||
SYN1_chrX_47566901_47624857 | 47619396 | GGCTCCCC others(8): Show |
G | disruptive_inframe_deletion | MODERATE | NA18942.hp1 | a0004 | a0004c0012 | a0004c0012t0001 | a0004c0012t0001g0257 | 1 | 280 | 0.0036 | -15 | c.318 others(22): Show |
p.Gly others(13): Show |
SYN1 | ENSG00000008056.14 | transcript | ENST00000295987.13 | protein_coding | 1/13 | 461/3210 | 318/2118 | 106/705 | chrX | TogoVar | |||
SYN2_chr3_11999388_12197032 | 12050711 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG01361.hp1 HG03130.hp2 others(1): Show |
a0002a0004 | a0002c0002a0004c0004 | a0002c0002t0001a0002c0002t0015a0004c0004t0004 | a0002c0002t0001g0003 a0002c0002t0001g0152 a0002c0002t0015g0119 others(1): Show |
4 | 7 | 0.5714 | -15 | c.377 others(34): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SYN3_chr22_32502820_33063381 | 32610565 | TTTTTGTT others(8): Show |
T | intron_variant | MODIFIER | HG01099.hp1 HG01192.hp1 HG01884.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(22): Show | a0001c0001t0001g0097 a0001c0001t0005g0158 a0001c0001t0009g0067 others(29): Show |
32 | 79 | 0.4051 | -15 | c.712 others(34): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32676528 | CTTTTTTT others(8): Show |
C | intron_variant | MODIFIER | HG01358.hp1 HG02723.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0024a0001c0001t0058a0001c0001t0062others(2): Show | a0001c0001t0024g0065 a0001c0001t0058g0180 a0001c0001t0062g0181 others(2): Show |
5 | 18 | 0.2778 | -15 | c.712 others(34): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32807299 | TATATATA others(8): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG03209.hp2 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0163 a0002c0002t0004g0167 |
2 | 184 | 0.0109 | -15 | c.711 others(34): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32825657 | CAAAAAAA others(8): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02717.hp2 HG03130.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0003a0001c0001t0014a0001c0001t0021others(4): Show | a0001c0001t0003g0107 a0001c0001t0014g0060 a0001c0001t0021g0063 others(4): Show |
7 | 12 | 0.5833 | -15 | c.711 others(34): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32842217 | GATCACTT others(8): Show |
G | intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0171 | 1 | 184 | 0.0054 | -15 | c.711 others(34): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 33028643 | ATGGTGGT others(8): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02622.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0009a0001c0001t0010others(3): Show | a0001c0001t0003g0169 a0001c0001t0009g0170 a0001c0001t0010g0166 others(3): Show |
6 | 142 | 0.0423 | -15 | c.-16 others(36): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 33028676 | GTGGTGGT others(8): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02895.hp2 HG02965.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0014a0001c0003t0005others(3): Show | a0001c0001t0001g0035 a0001c0001t0014g0099 a0001c0003t0005g0102 others(3): Show |
6 | 183 | 0.0328 | -15 | c.-16 others(36): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
SYNC_chr1_32674906_32707770 | 32678567 | CTTTTTTT others(8): Show |
C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01981.hp2 HG02055.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0004a0002c0002t0003 | a0001c0001t0002g0024 a0001c0001t0004g0037 a0001c0001t0004g0230 others(8): Show |
13 | 16 | 0.8125 | -15 | c.*32 others(26): Show |
SYNC | ENSG00000162520.15 | transcript | ENST00000409190.8 | protein_coding | 1338 | chr1 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152186582 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0056 | a0002c0056t0005 | a0002c0056t0005g0102 | 1 | 172 | 0.0058 | -15 | c.233 others(36): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152188975 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0062 | a0062c0040 | a0062c0040t0002 | a0062c0040t0002g0025 | 1 | 165 | 0.0061 | -15 | c.233 others(34): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152371845 | CAGGAAAG others(8): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01069.hp1 HG01071.hp1 others(19): Show |
a0001a0008a0009others(13): Show | a0001c0008a0001c0138a0001c0140others(16): Show | a0001c0008t0007a0001c0138t0006a0001c0140t0006others(16): Show | a0001c0008t0007g0151 a0001c0008t0007g0153 a0001c0138t0006g0147 others(19): Show |
22 | 111 | 0.1982 | -15 | c.950 others(34): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 59/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152371910 | AAGGAAAG others(8): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG03225.hp1 |
a0039a0087 | a0039c0012a0087c0141 | a0039c0012t0002a0087c0141t0001 | a0039c0012t0002g0066 a0087c0141t0001g0114 |
2 | 149 | 0.0134 | -15 | c.950 others(34): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 59/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152371915 | AAGGAAAG others(8): Show |
A | intron_variant | MODIFIER | HG02976.hp2 HG06807.hp1 NA19043.hp1 |
a0079a0098a0116 | a0079c0165a0098c0018a0116c0014 | a0079c0165t0002a0098c0018t0001a0116c0014t0004 | a0079c0165t0002g0055 a0098c0018t0001g0098 a0116c0014t0004g0053 |
3 | 163 | 0.0184 | -15 | c.950 others(34): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 59/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152371920 | AAGGACAG others(8): Show |
A | intron_variant | MODIFIER | HG03041.hp1 HG03453.hp1 NA18979.hp2 |
a0080a0089a0113 | a0080c0050a0089c0107a0113c0082 | a0080c0050t0002a0089c0107t0004a0113c0082t0011 | a0080c0050t0002g0036 a0089c0107t0004g0013 a0113c0082t0011g0060 |
3 | 159 | 0.0189 | -15 | c.950 others(34): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 59/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152377631 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG03225.hp2 |
a0053a0088 | a0053c0069a0088c0029 | a0053c0069t0004a0088c0029t0003 | a0053c0069t0004g0010 a0088c0029t0003g0039 |
2 | 168 | 0.0119 | -15 | c.901 others(32): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 56/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152377633 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG02897.hp1 HG02965.hp1 HG03516.hp2 |
a0021a0074 | a0021c0070a0021c0073a0074c0052 | a0021c0070t0014a0021c0073t0001a0074c0052t0001 | a0021c0070t0014g0003 a0021c0073t0001g0086 a0074c0052t0001g0069 |
3 | 167 | 0.0180 | -15 | c.901 others(32): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 56/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152377635 | AAAAAAAT others(8): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG03453.hp1 NA20129.hp1 |
a0066a0089a0124 | a0066c0071a0089c0107a0124c0037 | a0066c0071t0002a0089c0107t0004a0124c0037t0001 | a0066c0071t0002g0006 a0089c0107t0004g0013 a0124c0037t0001g0058 |
3 | 172 | 0.0174 | -15 | c.901 others(32): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 56/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152411655 | CTGAGCAC others(8): Show |
C | intron_variant | MODIFIER | HG03139.hp2 NA18906.hp2 |
a0086a0100 | a0086c0049a0100c0026 | a0086c0049t0001a0100c0026t0001 | a0086c0049t0001g0001 a0100c0026t0001g0067 |
2 | 172 | 0.0116 | -15 | c.623 others(34): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 42/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152629537 | GAGGGGGA others(8): Show |
G | intron_variant | MODIFIER | HG03516.hp2 | a0021 | a0021c0070 | a0021c0070t0014 | a0021c0070t0014g0003 | 1 | 170 | 0.0059 | -15 | c.-22 others(32): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 2/145 | chr6 | TogoVar | |||||||
SYNE2_chr14_63848004_64231433 | 63924832 | GTGTTTTT others(8): Show |
G | intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0001 | a0002c0001t0003 | a0002c0001t0003g0122 | 1 | 51 | 0.0196 | -15 | c.79+ others(32): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 2/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64100524 | AAAAAAAA others(8): Show |
A | intron_variant | MODIFIER | HG04204.hp2 | a0057 | a0057c0066 | a0057c0066t0004 | a0057c0066t0004g0076 | 1 | 148 | 0.0068 | -15 | c.123 others(36): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 63/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64100528 | AAAAATAT others(8): Show |
A | intron_variant | MODIFIER | HG01167.hp2 | a0030 | a0030c0064 | a0030c0064t0002 | a0030c0064t0002g0106 | 1 | 148 | 0.0068 | -15 | c.123 others(36): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 63/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95432633 | CTATTATT others(8): Show |
C | intron_variant | MODIFIER | HG00544.hp1 NA18945.hp2 NA19057.hp1 |
a0003a0004 | a0003c0004a0004c0003a0004c0035 | a0003c0004t0133a0004c0003t0004a0004c0035t0107 | a0003c0004t0133g0145 a0004c0003t0004g0169 a0004c0035t0107g0172 |
3 | 173 | 0.0173 | -15 | c.268 others(32): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 16/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95488697 | GGAGGAGA others(8): Show |
G | intron_variant | MODIFIER | NA18981.hp1 | a0003 | a0003c0004 | a0003c0004t0009 | a0003c0004t0009g0327 | 1 | 105 | 0.0095 | -15 | c.-14 others(34): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 1/17 | chr14 | TogoVar | |||||||
SYNGAP1_chr6_33415065_33458689 | 33440986 | GGGCAGGG others(8): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp1 HG01168.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0028 a0001c0001t0001g0063 a0001c0001t0001g0064 others(13): Show |
19 | 306 | 0.0621 | -15 | c.191 others(30): Show |
SYNGAP1 | ENSG00000197283.18 | transcript | ENST00000646630.1 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |