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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SYN3_chr22_32502820_33063381 | 32814107 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00735.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0008 a0001c0001t0001g0033 a0001c0001t0001g0086 others(20): Show |
23 | 184 | 0.1250 | -10 | c.711 others(29): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32814133 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG03209.hp2 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0163 a0002c0002t0004g0167 |
2 | 184 | 0.0109 | -10 | c.711 others(29): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32825657 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02258.hp1 HG03209.hp2 |
a0001a0002 | a0001c0007a0002c0002 | a0001c0007t0080a0002c0002t0004 | a0001c0007t0080g0112 a0002c0002t0004g0167 |
2 | 184 | 0.0109 | -10 | c.711 others(29): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 6/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32869690 | GTTTTTTT others(3): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02622.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0014others(9): Show | a0001c0001t0003g0157 a0001c0001t0005g0158 a0001c0001t0014g0083 others(10): Show |
13 | 184 | 0.0707 | -10 | c.462 others(25): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 4/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32954099 | CAACAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01884.hp1 HG02055.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(6): Show | a0001c0001t0001g0011 a0001c0001t0001g0097 a0001c0001t0003g0169 others(10): Show |
13 | 184 | 0.0707 | -10 | c.370 others(29): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 3/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32984208 | AAAAGAGT others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(129): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(65): Show | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0020 others(129): Show |
132 | 184 | 0.7174 | -10 | c.312 others(27): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 2/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 33008924 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0054 | a0001c0001t0054g0002 | 1 | 184 | 0.0054 | -10 | c.-16 others(29): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 33009751 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01358.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(4): Show | a0001c0001t0001g0113 a0001c0001t0003g0137 a0001c0001t0013g0121 others(4): Show |
7 | 184 | 0.0380 | -10 | c.-16 others(29): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
SYNCRIP_chr6_85608976_85647886 | 85642998 | CCCCTTCC others(3): Show |
C | upstream_gene_variant | MODIFIER | NA18944.hp1 NA19009.hp1 NA19058.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 a0001c0001t0001g0062 a0001c0001t0001g0063 others(1): Show |
4 | 364 | 0.0110 | -10 | c.-22 others(19): Show |
SYNCRIP | ENSG00000135316.20 | transcript | ENST00000369622.8 | protein_coding | 113 | chr6 | TogoVar | |||||||
SYNC_chr1_32674906_32707770 | 32678567 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(102): Show |
a0001a0003a0006others(2): Show | a0001c0001a0003c0003a0006c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0008 others(95): Show |
105 | 318 | 0.3302 | -10 | c.*32 others(21): Show |
SYNC | ENSG00000162520.15 | transcript | ENST00000409190.8 | protein_coding | 1338 | chr1 | TogoVar | |||||||
SYNC_chr1_32674906_32707770 | 32689235 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG04115.hp1 NA18982.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0003 | a0001c0001t0001g0172 a0002c0002t0003g0214 a0002c0002t0003g0219 others(1): Show |
4 | 318 | 0.0126 | -10 | c.123 others(29): Show |
SYNC | ENSG00000162520.15 | transcript | ENST00000409190.8 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
SYNDIG1_chr20_24464629_24671616 | 24512108 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013 | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0011 others(29): Show |
32 | 270 | 0.1185 | -10 | c.-78 others(29): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SYNE1_chr6_152116687_152173312 | 152154445 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG01257.hp1 HG01516.hp1 others(6): Show |
a0003a0013 | a0003c0010a0013c0020 | a0003c0010t0002a0013c0020t0002a0013c0020t0004 | a0003c0010t0002g0071 a0003c0010t0002g0138 a0003c0010t0002g0139 others(6): Show |
9 | 436 | 0.0206 | -10 | c.594 others(25): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000354674.5 | protein_coding | 4/17 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152154445 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp2 |
a0019a0046 | a0019c0060a0046c0131 | a0019c0060t0007a0046c0131t0005 | a0019c0060t0007g0133 a0046c0131t0005g0104 |
2 | 174 | 0.0115 | -10 | c.241 others(29): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 133/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152179673 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG01081.hp2 HG01106.hp1 others(8): Show |
a0002a0006a0020others(8): Show | a0002c0063a0006c0022a0020c0069others(8): Show | a0002c0063t0002a0006c0022t0005a0020c0069t0014others(8): Show | a0002c0063t0002g0079 a0006c0022t0005g0038 a0020c0069t0014g0003 others(8): Show |
11 | 174 | 0.0632 | -10 | c.234 others(29): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 129/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152186556 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01433.hp1 HG02258.hp1 HG03492.hp1 others(3): Show |
a0009a0014a0058others(3): Show | a0009c0006a0014c0130a0058c0117others(3): Show | a0009c0006t0006a0014c0130t0002a0058c0117t0004others(3): Show | a0009c0006t0006g0145 a0014c0130t0002g0118 a0058c0117t0004g0009 others(3): Show |
6 | 174 | 0.0345 | -10 | c.233 others(31): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152297781 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | NA18971.hp2 NA18994.hp1 NA19079.hp2 |
a0012a0111a0122 | a0012c0124a0111c0127a0122c0126 | a0012c0124t0003a0111c0127t0004a0122c0126t0001 | a0012c0124t0003g0050 a0111c0127t0004g0051 a0122c0126t0001g0103 |
3 | 174 | 0.0172 | -10 | c.176 others(31): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 93/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152297816 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | HG01928.hp1 HG02572.hp2 NA18941.hp1 others(2): Show |
a0011a0048a0063others(2): Show | a0011c0064a0048c0033a0063c0039others(2): Show | a0011c0064t0011a0048c0033t0003a0063c0039t0002others(2): Show | a0011c0064t0011g0047 a0048c0033t0003g0046 a0063c0039t0002g0025 others(2): Show |
5 | 174 | 0.0287 | -10 | c.176 others(31): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 93/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152329538 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG03492.hp1 | a0094 | a0094c0110 | a0094c0110t0011 | a0094c0110t0011g0004 | 1 | 174 | 0.0058 | -10 | c.149 others(29): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 78/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152371845 | CAGGAAAG others(3): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01081.hp1 HG01978.hp2 others(8): Show |
a0008a0009a0012others(8): Show | a0008c0077a0009c0006a0012c0124others(8): Show | a0008c0077t0007a0009c0006t0003a0012c0124t0003others(8): Show | a0008c0077t0007g0147 a0009c0006t0003g0080 a0012c0124t0003g0050 others(8): Show |
11 | 174 | 0.0632 | -10 | c.950 others(29): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 59/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152371915 | AAGGAAAG others(3): Show |
A | intron_variant | MODIFIER | HG03831.hp2 | a0098 | a0098c0109 | a0098c0109t0005 | a0098c0109t0005g0041 | 1 | 174 | 0.0058 | -10 | c.950 others(29): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 59/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152371920 | AAGGACAG others(3): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG02897.hp1 HG03041.hp2 others(2): Show |
a0003a0075a0082others(2): Show | a0003c0144a0075c0051a0082c0112others(2): Show | a0003c0144t0009a0075c0051t0001a0082c0112t0002others(2): Show | a0003c0144t0009g0126 a0075c0051t0001g0068 a0082c0112t0002g0016 others(2): Show |
5 | 174 | 0.0287 | -10 | c.950 others(29): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 59/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152377608 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG06807.hp1 | a0099 | a0099c0017 | a0099c0017t0001 | a0099c0017t0001g0098 | 1 | 174 | 0.0058 | -10 | c.901 others(27): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 56/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152377632 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG01167.hp1 HG01978.hp2 HG02083.hp1 others(1): Show |
a0009a0039a0049others(1): Show | a0009c0006a0039c0011a0049c0132others(1): Show | a0009c0006t0003a0039c0011t0002a0049c0132t0003others(1): Show | a0009c0006t0003g0080 a0039c0011t0002g0065 a0049c0132t0003g0043 others(1): Show |
4 | 174 | 0.0230 | -10 | c.901 others(27): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 56/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152488028 | TCACGCCA others(3): Show |
T | intron_variant | MODIFIER | HG02965.hp2 HG03139.hp2 HG03486.hp1 |
a0076a0087a0092 | a0076c0116a0087c0048a0092c0012 | a0076c0116t0001a0087c0048t0001a0092c0012t0004 | a0076c0116t0001g0040 a0087c0048t0001g0001 a0092c0012t0004g0054 |
3 | 174 | 0.0172 | -10 | c.104 others(27): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 12/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152566985 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG01071.hp2 HG01106.hp2 HG02080.hp1 |
a0003a0016a0038 | a0003c0148a0016c0044a0038c0083 | a0003c0148t0009a0016c0044t0007a0038c0083t0004 | a0003c0148t0009g0121 a0016c0044t0007g0139 a0038c0083t0004g0042 |
3 | 174 | 0.0172 | -10 | c.68- others(27): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152586655 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp2 | a0005 | a0005c0019 | a0005c0019t0003 | a0005c0019t0003g0026 | 1 | 174 | 0.0058 | -10 | c.67+ others(27): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152604988 | GAAAGAAA others(3): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02559.hp2 HG02976.hp1 |
a0047a0062a0079 | a0047c0107a0062c0103a0079c0111 | a0047c0107t0002a0062c0103t0004a0079c0111t0001 | a0047c0107t0002g0093 a0062c0103t0004g0092 a0079c0111t0001g0095 |
3 | 174 | 0.0172 | -10 | c.67+ others(27): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152604992 | GAAAGAAA others(3): Show |
G | intron_variant | MODIFIER | HG01167.hp2 HG02723.hp1 |
a0001a0070 | a0001c0151a0070c0102 | a0001c0151t0006a0070c0102t0005 | a0001c0151t0006g0125 a0070c0102t0005g0094 |
2 | 174 | 0.0115 | -10 | c.67+ others(27): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152604996 | GAAAGAAA others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG01081.hp1 others(7): Show |
a0001a0011a0016others(6): Show | a0001c0007a0001c0145a0011c0062others(7): Show | a0001c0007t0007a0001c0145t0006a0011c0062t0012others(7): Show | a0001c0007t0007g0150 a0001c0145t0006g0144 a0011c0062t0012g0128 others(7): Show |
10 | 174 | 0.0575 | -10 | c.67+ others(27): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152604998 | AAGAAAGA others(3): Show |
A | intron_variant | MODIFIER | NA19000.hp2 | a0024 | a0024c0003 | a0024c0003t0010 | a0024c0003t0010g0129 | 1 | 174 | 0.0058 | -10 | c.67+ others(27): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152605006 | AAGAGAGA others(3): Show |
A | intron_variant | MODIFIER | HG03041.hp2 | a0082 | a0082c0112 | a0082c0112t0002 | a0082c0112t0002g0016 | 1 | 174 | 0.0058 | -10 | c.67+ others(27): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152605031 | AGAGAGGG others(3): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0013 | a0013c0001 | a0013c0001t0001 | a0013c0001t0001g0077 a0013c0001t0001g0078 |
2 | 174 | 0.0115 | -10 | c.67+ others(27): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE2_chr14_63848004_64231433 | 63944278 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0048 | a0048c0091 | a0048c0091t0001 | a0048c0091t0001g0016 | 1 | 150 | 0.0067 | -10 | c.408 others(27): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 6/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63948166 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0074 | a0074c0083 | a0074c0083t0002 | a0074c0083t0002g0035 | 1 | 150 | 0.0067 | -10 | c.409 others(27): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 6/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63948782 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02809.hp1 |
a0008 | a0008c0011 | a0008c0011t0004a0008c0011t0010 | a0008c0011t0004g0055 a0008c0011t0010g0054 |
2 | 150 | 0.0133 | -10 | c.409 others(27): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 6/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63959287 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02809.hp2 HG03098.hp1 |
a0033a0044a0048 | a0033c0097a0044c0090a0048c0091 | a0033c0097t0005a0044c0090t0001a0048c0091t0001 | a0033c0097t0005g0147 a0044c0090t0001g0002 a0048c0091t0001g0016 |
3 | 150 | 0.0200 | -10 | c.788 others(27): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 8/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63974892 | GTATATAT others(3): Show |
G | intron_variant | MODIFIER | HG03098.hp1 | a0048 | a0048c0091 | a0048c0091t0001 | a0048c0091t0001g0016 | 1 | 150 | 0.0067 | -10 | c.112 others(29): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 11/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64014929 | TTATATAT others(3): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG02071.hp2 HG02129.hp1 others(7): Show |
a0001a0002a0013others(4): Show | a0001c0004a0001c0005a0002c0001others(5): Show | a0001c0004t0003a0001c0005t0002a0002c0001t0002others(5): Show | a0001c0004t0003g0071 a0001c0005t0002g0044 a0002c0001t0002g0033 others(7): Show |
10 | 150 | 0.0667 | -10 | c.472 others(29): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 32/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64100531 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01496.hp2 HG02809.hp1 others(2): Show |
a0008a0021a0028others(1): Show | a0008c0011a0021c0098a0028c0081others(1): Show | a0008c0011t0004a0021c0098t0001a0028c0081t0004others(1): Show | a0008c0011t0004g0029 a0008c0011t0004g0055 a0021c0098t0001g0082 others(2): Show |
5 | 150 | 0.0333 | -10 | c.123 others(31): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 63/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64138971 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG02897.hp2 HG03516.hp2 NA21309.hp1 |
a0009a0021 | a0009c0078a0021c0098a0021c0099 | a0009c0078t0001a0021c0098t0001a0021c0099t0003 | a0009c0078t0001g0085 a0021c0098t0001g0082 a0021c0099t0003g0081 |
3 | 150 | 0.0200 | -10 | c.148 others(29): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 79/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95414686 | GACACACA others(3): Show |
G | 3_prime_UTR_variant | MODIFIER | HG03540.hp2 NA18947.hp2 NA18964.hp2 |
a0001a0004a0030 | a0001c0019a0004c0005a0030c0066 | a0001c0019t0094a0004c0005t0152a0030c0066t0173 | a0001c0019t0094g0057 a0004c0005t0152g0030 a0030c0066t0173g0050 |
3 | 384 | 0.0078 | -10 | c.*31 others(21): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 18/18 | 3130 | chr14 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95427568 | TCTCTCTC others(3): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG02615.hp1 HG02615.hp2 others(6): Show |
a0002a0004a0009others(2): Show | a0002c0017a0004c0003a0009c0023others(3): Show | a0002c0017t0044a0004c0003t0007a0009c0023t0033others(4): Show | a0002c0017t0044g0059 a0004c0003t0007g0360 a0009c0023t0033g0072 others(6): Show |
9 | 384 | 0.0234 | -10 | c.272 others(29): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 17/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95457419 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG01167.hp1 others(36): Show |
a0001a0002a0003others(10): Show | a0001c0032a0001c0082a0002c0017others(17): Show | a0001c0032t0166a0001c0032t0167a0001c0082t0066others(30): Show | a0001c0032t0166g0251 a0001c0032t0167g0343 a0001c0082t0066g0233 others(36): Show |
39 | 384 | 0.1016 | -10 | c.628 others(23): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 4/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95469359 | AGTCTCTG others(3): Show |
A | intron_variant | MODIFIER | HG00609.hp1 NA18942.hp2 |
a0001a0005 | a0001c0001a0005c0034 | a0001c0001t0106a0005c0034t0001 | a0001c0001t0106g0029 a0005c0034t0001g0150 |
2 | 384 | 0.0052 | -10 | c.145 others(27): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95469531 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03041.hp1 HG03130.hp2 |
a0003 | a0003c0042 | a0003c0042t0174a0003c0042t0179 | a0003c0042t0174g0187 a0003c0042t0179g0222 |
2 | 384 | 0.0052 | -10 | c.145 others(27): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 2/17 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95520967 | GTGTATAT others(3): Show |
G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG01168.hp1 others(13): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0019a0001c0076others(9): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0021others(13): Show | a0001c0001t0001g0232 a0001c0001t0004g0311 a0001c0001t0021g0325 others(13): Show |
16 | 384 | 0.0417 | -10 | c.-43 others(21): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 4318 | chr14 | TogoVar | |||||||
SYNGAP1_chr6_33415065_33458689 | 33441093 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02145.hp2 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0103 a0001c0004t0001g0014 a0001c0004t0001g0041 others(7): Show |
15 | 307 | 0.0489 | -10 | c.191 others(25): Show |
SYNGAP1 | ENSG00000197283.18 | transcript | ENST00000646630.1 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYNGR1_chr22_39344991_39390575 | 39359630 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG02071.hp1 HG02109.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0224 a0001c0001t0001g0225 a0001c0001t0001g0230 others(14): Show |
17 | 300 | 0.0567 | -10 | c.99+ others(25): Show |
SYNGR1 | ENSG00000100321.15 | transcript | ENST00000328933.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SYNGR1_chr22_39344991_39390575 | 39365988 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG02056.hp1 HG03710.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0017a0001c0001t0019 | a0001c0001t0001g0029 a0001c0001t0001g0230 a0001c0001t0017g0270 others(2): Show |
5 | 300 | 0.0167 | -10 | c.100 others(27): Show |
SYNGR1 | ENSG00000100321.15 | transcript | ENST00000328933.10 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar |