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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SVOPL_chr7_138589285_138706362 | 138702250 | CGAGGTGG others(11): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00597.hp2 others(54): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0043 a0001c0001t0001g0060 a0001c0001t0001g0062 others(54): Show |
57 | 358 | 0.1592 | -18 | c.-11 others(29): Show |
SVOPL | ENSG00000157703.16 | transcript | ENST00000674285.1 | protein_coding | 889 | chr7 | TogoVar | |||||||
SVOP_chr12_108902741_109026068 | 108919304 | TACCCACA others(11): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG01256.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0077 | a0001c0001t0005g0110 a0001c0001t0005g0271 a0001c0001t0077g0074 |
3 | 286 | 0.0105 | -18 | c.126 others(35): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 13/15 | chr12 | TogoVar | |||||||
SVOP_chr12_108902741_109026068 | 108946690 | TTTATTAT others(11): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01070.hp2 HG01123.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0019others(4): Show | a0001c0001t0003g0005 a0001c0001t0003g0006 a0001c0001t0003g0007 others(26): Show |
29 | 69 | 0.4203 | -18 | c.579 others(35): Show |
SVOP | ENSG00000166111.10 | transcript | ENST00000610966.5 | protein_coding | 6/15 | chr12 | TogoVar | |||||||
SWAP70_chr11_9659077_9757993 | 9671505 | TATATAAA others(11): Show |
T | intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0181 | 1 | 292 | 0.0034 | -18 | c.99+ others(33): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9672195 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0291 | 1 | 17 | 0.0588 | -18 | c.99+ others(33): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9675328 | AGAGAGAG others(11): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00609.hp1 others(32): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0011others(3): Show | a0001c0002t0002a0001c0002t0011a0001c0002t0033others(7): Show | a0001c0002t0002g0105 a0001c0002t0002g0109 a0001c0002t0002g0121 others(32): Show |
35 | 291 | 0.1203 | -18 | c.99+ others(35): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9675346 | CGAGAGAG others(11): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG02109.hp1 others(1): Show |
a0001a0002 | a0001c0003a0002c0004 | a0001c0003t0003a0001c0003t0009a0002c0004t0001 | a0001c0003t0003g0030 a0001c0003t0003g0210 a0001c0003t0009g0195 others(1): Show |
4 | 212 | 0.0189 | -18 | c.99+ others(35): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9705310 | TACTTGGT others(11): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG02109.hp2 HG02572.hp2 others(4): Show |
a0001a0002 | a0001c0003a0002c0004a0002c0006 | a0001c0003t0010a0002c0004t0001a0002c0006t0001 | a0001c0003t0010g0013 a0001c0003t0010g0023 a0002c0004t0001g0014 others(4): Show |
7 | 274 | 0.0255 | -18 | c.241 others(35): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
SWAP70_chr11_9659077_9757993 | 9756616 | GTCCTCAG others(11): Show |
G | downstream_gene_variant | MODIFIER | HG02895.hp2 HG02922.hp2 |
a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0063 a0001c0003t0015g0064 |
2 | 292 | 0.0068 | -18 | c.*66 others(29): Show |
SWAP70 | ENSG00000133789.15 | transcript | ENST00000318950.11 | protein_coding | 3624 | chr11 | TogoVar | |||||||
SWI5_chr9_128271276_128293989 | 128291978 | CAAAAAAA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG02451.hp2 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 a0001c0001t0001g0213 |
2 | 4 | 0.5000 | -18 | c.*32 others(29): Show |
SWI5 | ENSG00000175854.15 | transcript | ENST00000418976.3 | protein_coding | 2990 | chr9 | TogoVar | |||||||
SYCE1_chr10_133549847_133570583 | 133551360 | CCTATGGG others(11): Show |
C | downstream_gene_variant | MODIFIER | NA19072.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 382 | 0.0026 | -18 | c.*36 others(29): Show |
SYCE1 | ENSG00000171772.17 | transcript | ENST00000343131.7 | protein_coding | 3486 | chr10 | TogoVar | |||||||
SYCE1_chr10_133549847_133570583 | 133562261 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp1 others(48): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0003c0003t0003 | a0001c0001t0001g0002 a0001c0001t0001g0027 a0001c0001t0001g0063 others(9): Show |
51 | 64 | 0.7969 | -18 | c.74- others(33): Show |
SYCE1 | ENSG00000171772.17 | transcript | ENST00000343131.7 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
SYCP2L_chr6_10882052_10979309 | 10888066 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02074.hp1 HG03942.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0246 a0001c0002t0001g0247 |
2 | 4 | 0.5000 | -18 | c.9+9 others(29): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYCP2L_chr6_10882052_10979309 | 10891609 | CTCTCTGT others(11): Show |
C | intron_variant | MODIFIER | NA18612.hp1 NA18978.hp1 NA18987.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0241 a0001c0002t0001g0194 a0001c0002t0001g0196 |
3 | 119 | 0.0252 | -18 | c.78+ others(29): Show |
SYCP2L | ENSG00000153157.14 | transcript | ENST00000283141.11 | protein_coding | 2/29 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYCP2_chr20_59858571_59938637 | 59876369 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02148.hp1 HG02486.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0023others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0023t0001others(2): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(14): Show |
18 | 43 | 0.4186 | -18 | c.315 others(35): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 33/44 | chr20 | TogoVar | |||||||
SYCP2_chr20_59858571_59938637 | 59879818 | AATAAATA others(11): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00621.hp1 others(29): Show |
a0001a0008a0010 | a0001c0001a0008c0017a0010c0016 | a0001c0001t0001a0008c0017t0001a0010c0016t0001 | a0001c0001t0001g0064 a0001c0001t0001g0092 a0001c0001t0001g0093 others(29): Show |
32 | 120 | 0.2667 | -18 | c.294 others(35): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 31/44 | chr20 | TogoVar | |||||||
SYCP2_chr20_59858571_59938637 | 59879848 | TATATATA others(11): Show |
T | intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0030 | 1 | 274 | 0.0036 | -18 | c.294 others(35): Show |
SYCP2 | ENSG00000196074.13 | transcript | ENST00000357552.8 | protein_coding | 31/44 | chr20 | TogoVar | |||||||
SYK_chr9_90796819_90903549 | 90817845 | TTGTGTGT others(11): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02965.hp2 HG03669.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005a0001c0014 | a0001c0001t0007a0001c0001t0009a0001c0005t0004others(2): Show | a0001c0001t0007g0113 a0001c0001t0009g0065 a0001c0005t0004g0234 others(2): Show |
5 | 216 | 0.0231 | -18 | c.-42 others(37): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SYK_chr9_90796819_90903549 | 90817866 | TGTGTGTG others(11): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00438.hp1 others(128): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0016 a0001c0001t0001g0037 a0001c0001t0001g0040 others(126): Show |
131 | 363 | 0.3609 | -18 | c.-42 others(37): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SYK_chr9_90796819_90903549 | 90817868 | TGTGTGTG others(11): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG02451.hp1 HG02486.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(6): Show | a0001c0001t0002g0224 a0001c0001t0002g0225 a0001c0001t0002g0227 others(14): Show |
17 | 359 | 0.0474 | -18 | c.-42 others(37): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SYK_chr9_90796819_90903549 | 90842756 | AGAGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01081.hp1 HG01175.hp2 others(16): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(7): Show | a0001c0001t0002g0119 a0001c0001t0002g0135 a0001c0001t0003g0044 others(16): Show |
19 | 199 | 0.0955 | -18 | c.-41 others(35): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SYK_chr9_90796819_90903549 | 90901316 | ACTCTCTC others(11): Show |
A | downstream_gene_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0050 | a0001c0001t0050g0367 | 1 | 22 | 0.0455 | -18 | c.*57 others(29): Show |
SYK | ENSG00000165025.15 | transcript | ENST00000375754.9 | protein_coding | 2768 | chr9 | TogoVar | |||||||
SYMPK_chr19_45810410_45868147 | 45863565 | CTTTTCTT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00544.hp1 others(97): Show |
a0001a0006 | a0001c0003a0001c0005a0001c0006others(3): Show | a0001c0003t0002a0001c0005t0002a0001c0005t0004others(7): Show | a0001c0003t0002g0003 a0001c0003t0002g0007 a0001c0003t0002g0010 others(87): Show |
100 | 390 | 0.2564 | -18 | c.-53 others(27): Show |
SYMPK | ENSG00000125755.19 | transcript | ENST00000245934.12 | protein_coding | 419 | chr19 | TogoVar | |||||||
SYN1_chrX_47566901_47624857 | 47608267 | GAAGGAAG others(11): Show |
G | intron_variant | MODIFIER | HG01346.hp1 HG01361.hp1 HG01891.hp1 others(32): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0003a0001c0003t0002 | a0001c0002t0001g0003 a0001c0002t0001g0009 a0001c0002t0001g0016 others(28): Show |
35 | 280 | 0.1250 | -18 | c.378 others(35): Show |
SYN1 | ENSG00000008056.14 | transcript | ENST00000295987.13 | protein_coding | 1/12 | chrX | TogoVar | |||||||
SYN2_chr3_11999388_12197032 | 12003801 | TGTGTGTG others(11): Show |
T | upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0164 | 1 | 262 | 0.0038 | -18 | c.-75 others(27): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 586 | chr3 | TogoVar | |||||||
SYN2_chr3_11999388_12197032 | 12003815 | TGTGCGCG others(11): Show |
T | upstream_gene_variant | MODIFIER | HG01255.hp2 HG02735.hp1 NA18939.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0072 a0002c0002t0001g0076 a0002c0002t0001g0079 others(2): Show |
5 | 217 | 0.0230 | -18 | c.-73 others(27): Show |
SYN2 | ENSG00000157152.17 | transcript | ENST00000621198.5 | protein_coding | 572 | chr3 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 32556795 | GGTTTCCT others(11): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG01074.hp1 HG01175.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0020 a0001c0001t0002g0045 a0001c0001t0006g0138 others(3): Show |
6 | 110 | 0.0545 | -18 | c.775 others(37): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 7/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 33008924 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG01099.hp1 HG01884.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(8): Show | a0001c0001t0002g0018 a0001c0001t0003g0107 a0001c0001t0003g0157 others(10): Show |
13 | 62 | 0.2097 | -18 | c.-16 others(37): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
SYN3_chr22_32502820_33063381 | 33028673 | GTGGTGGT others(11): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG00741.hp1 HG01074.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(6): Show | a0001c0001t0002g0057 a0001c0001t0003g0128 a0001c0001t0003g0151 others(7): Show |
10 | 184 | 0.0543 | -18 | c.-16 others(39): Show |
SYN3 | ENSG00000185666.16 | transcript | ENST00000358763.7 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
SYNDIG1L_chr14_74400899_74431210 | 74415812 | CAAAAGGA others(11): Show |
C | intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 402 | 0.0025 | -18 | c.-57 others(35): Show |
SYNDIG1L | ENSG00000183379.9 | transcript | ENST00000331628.8 | protein_coding | 1/3 | chr14 | TogoVar | |||||||
SYNDIG1_chr20_24464629_24671616 | 24512108 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG03017.hp1 HG03491.hp2 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 a0001c0001t0001g0187 a0001c0001t0001g0230 |
3 | 30 | 0.1000 | -18 | c.-78 others(37): Show |
SYNDIG1 | ENSG00000101463.6 | transcript | ENST00000376862.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SYNE1_chr6_152116687_152642362 | 152188976 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG04184.hp2 NA18939.hp2 |
a0003a0102 | a0003c0152a0102c0067 | a0003c0152t0001a0102c0067t0005 | a0003c0152t0001g0034 a0102c0067t0005g0101 |
2 | 158 | 0.0127 | -18 | c.233 others(37): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152188978 | AAAAAAAA others(11): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG01884.hp2 HG02647.hp2 others(2): Show |
a0002a0004a0029others(2): Show | a0002c0059a0004c0093a0029c0055others(2): Show | a0002c0059t0005a0004c0093t0001a0029c0055t0007others(2): Show | a0002c0059t0005g0088 a0004c0093t0001g0028 a0029c0055t0007g0132 others(2): Show |
5 | 141 | 0.0355 | -18 | c.233 others(37): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152188980 | AAAAAATA others(11): Show |
A | intron_variant | MODIFIER | HG02976.hp1 HG03139.hp1 |
a0078a0085 | a0078c0112a0085c0099 | a0078c0112t0001a0085c0099t0004 | a0078c0112t0001g0095 a0085c0099t0004g0012 |
2 | 151 | 0.0132 | -18 | c.233 others(37): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 128/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152218816 | TGGCAGAG others(11): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02559.hp1 others(12): Show |
a0021a0047a0054others(11): Show | a0021c0070a0021c0073a0047c0108others(12): Show | a0021c0070t0014a0021c0073t0001a0047c0108t0002others(12): Show | a0021c0070t0014g0003 a0021c0073t0001g0086 a0047c0108t0002g0093 others(12): Show |
15 | 172 | 0.0872 | -18 | c.220 others(37): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 120/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152253817 | GGTTTTTT others(11): Show |
G | intron_variant | MODIFIER | HG00140.hp2 | a0005 | a0005c0020 | a0005c0020t0003 | a0005c0020t0003g0026 | 1 | 60 | 0.0167 | -18 | c.194 others(39): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 104/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152604980 | GAAAGAAA others(11): Show |
G | intron_variant | MODIFIER | NA19087.hp2 | a0123 | a0123c0075 | a0123c0075t0003 | a0123c0075t0003g0059 | 1 | 171 | 0.0058 | -18 | c.67+ others(35): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152604988 | GAAAGAAA others(11): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG02723.hp2 HG03710.hp1 others(1): Show |
a0002a0039a0070others(1): Show | a0002c0066a0039c0012a0070c0025others(1): Show | a0002c0066t0001a0039c0012t0002a0070c0025t0001others(1): Show | a0002c0066t0001g0087 a0039c0012t0002g0066 a0070c0025t0001g0057 others(1): Show |
4 | 169 | 0.0237 | -18 | c.67+ others(35): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE1_chr6_152116687_152642362 | 152604990 | AAGAAAGA others(11): Show |
A | intron_variant | MODIFIER | HG01175.hp1 | a0007 | a0007c0002 | a0007c0002t0006 | a0007c0002t0006g0164 | 1 | 169 | 0.0059 | -18 | c.67+ others(35): Show |
SYNE1 | ENSG00000131018.25 | transcript | ENST00000367255.10 | protein_coding | 3/145 | chr6 | TogoVar | |||||||
SYNE2_chr14_63848004_64231433 | 63948782 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG04199.hp1 HG04228.hp2 NA18986.hp2 others(1): Show |
a0022a0056a0059others(1): Show | a0022c0021a0056c0073a0059c0074others(1): Show | a0022c0021t0003a0056c0073t0003a0059c0074t0002others(1): Show | a0022c0021t0003g0021 a0056c0073t0003g0019 a0059c0074t0002g0022 others(1): Show |
4 | 54 | 0.0741 | -18 | c.409 others(35): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 6/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 63974892 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG01516.hp2 HG01884.hp1 HG02523.hp1 |
a0006a0016a0032 | a0006c0010a0016c0014a0032c0049 | a0006c0010t0004a0016c0014t0001a0032c0049t0002 | a0006c0010t0004g0080 a0016c0014t0001g0098 a0032c0049t0002g0108 |
3 | 14 | 0.2143 | -18 | c.112 others(37): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 11/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64038857 | GGGGAGAG others(11): Show |
G | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(66): Show |
a0001a0002a0006others(27): Show | a0001c0004a0001c0005a0001c0009others(40): Show | a0001c0004t0002a0001c0004t0004a0001c0005t0001others(44): Show | a0001c0004t0002g0071 a0001c0004t0002g0131 a0001c0004t0004g0104 others(66): Show |
69 | 144 | 0.4792 | -18 | c.722 others(37): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 45/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64089369 | GAAAAAAA others(11): Show |
G | intron_variant | MODIFIER | NA18970.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0010 | 1 | 53 | 0.0189 | -18 | c.116 others(37): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 58/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE2_chr14_63848004_64231433 | 64100531 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | NA19086.hp2 | a0069 | a0069c0051 | a0069c0051t0002 | a0069c0051t0002g0047 | 1 | 87 | 0.0115 | -18 | c.123 others(39): Show |
SYNE2 | ENSG00000054654.20 | transcript | ENST00000555002.6 | protein_coding | 63/115 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
SYNE3_chr14_95402266_95521650 | 95517918 | GGTGTGTG others(11): Show |
G | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG02572.hp2 others(6): Show |
a0001a0003a0004others(4): Show | a0001c0022a0003c0012a0004c0005others(5): Show | a0001c0022t0029a0003c0012t0191a0004c0005t0007others(5): Show | a0001c0022t0029g0040 a0003c0012t0191g0046 a0004c0005t0007g0044 others(6): Show |
9 | 67 | 0.1343 | -18 | c.-13 others(29): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 1269 | chr14 | TogoVar | |||||||
SYNE3_chr14_95402266_95521650 | 95520969 | GTATATAT others(11): Show |
G | upstream_gene_variant | MODIFIER | HG02074.hp1 NA18940.hp2 NA18959.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0037a0002c0002t0003a0002c0002t0015others(4): Show | a0001c0001t0037g0186 a0002c0002t0003g0121 a0002c0002t0003g0170 others(5): Show |
8 | 188 | 0.0426 | -18 | c.-44 others(29): Show |
SYNE3 | ENSG00000176438.13 | transcript | ENST00000682763.1 | protein_coding | 4320 | chr14 | TogoVar | |||||||
SYNJ2_chr6_157976863_158104176 | 157989427 | AATATATA others(11): Show |
A | intron_variant | MODIFIER | HG02723.hp2 | a0004 | a0004c0008 | a0004c0008t0005 | a0004c0008t0005g0258 | 1 | 40 | 0.0250 | -18 | c.127 others(35): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYNJ2_chr6_157976863_158104176 | 158020031 | CCCACCTG others(11): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00741.hp2 HG01175.hp2 others(41): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0025others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0031others(14): Show | a0001c0001t0001g0040 a0001c0001t0001g0185 a0001c0001t0001g0193 others(41): Show |
44 | 310 | 0.1419 | -18 | c.214 others(35): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYNJ2_chr6_157976863_158104176 | 158088034 | ATTTTTTT others(11): Show |
A | intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0089 | 1 | 89 | 0.0112 | -18 | c.334 others(35): Show |
SYNJ2 | ENSG00000078269.15 | transcript | ENST00000355585.9 | protein_coding | 23/26 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SYNPO2_chr4_118883854_119066247 | 118900687 | CTCTCTCT others(11): Show |
C | intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0212 | 1 | 308 | 0.0032 | -18 | c.105 others(37): Show |
SYNPO2 | ENSG00000172403.11 | transcript | ENST00000307142.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |