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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SCN2B_chr11_118157806_118181639 | 118162074 | GAGACAGA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01099.hp2 HG01943.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0057 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(4): Show |
12 | 450 | 0.0267 | -8 | c.*48 others(19): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 731 | chr11 | TogoVar | |||||||
SCN2B_chr11_118157806_118181639 | 118178893 | ATTATTAT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0011others(6): Show | a0001c0001t0003g0005 a0001c0001t0003g0010 a0001c0001t0009g0111 others(10): Show |
24 | 450 | 0.0533 | -8 | c.-24 others(19): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 2255 | chr11 | TogoVar | |||||||
SCN2B_chr11_118157806_118181639 | 118178896 | ATTATTTT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01074.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0229 a0001c0001t0003g0005 a0001c0001t0003g0065 others(3): Show |
8 | 450 | 0.0178 | -8 | c.-24 others(19): Show |
SCN2B | ENSG00000149575.9 | transcript | ENST00000278947.6 | protein_coding | 2258 | chr11 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165111484 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00733.hp2 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0070 a0001c0001t0001g0120 a0001c0001t0001g0156 others(31): Show |
35 | 314 | 0.1115 | -8 | c.384 others(27): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 21/27 | chr2 | TogoVar | |||||||
SCN3A_chr2_165082526_165209050 | 165146380 | ATATGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02280.hp1 HG02486.hp1 HG02559.hp1 others(4): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0002a0001c0005t0001a0001c0005t0002 | a0001c0004t0002g0038 a0001c0005t0001g0169 a0001c0005t0001g0170 others(4): Show |
7 | 314 | 0.0223 | -8 | c.167 others(25): Show |
SCN3A | ENSG00000153253.20 | transcript | ENST00000283254.12 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
SCN3B_chr11_123624188_123659624 | 123625936 | AAGAGAGA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp1 others(50): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0032 others(40): Show |
53 | 450 | 0.1178 | -8 | c.*78 others(19): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 3251 | chr11 | TogoVar | |||||||
SCN3B_chr11_123624188_123659624 | 123655763 | TTTTATTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00738.hp2 HG01346.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0045 a0001c0001t0001g0118 others(27): Show |
38 | 450 | 0.0844 | -8 | c.-15 others(19): Show |
SCN3B | ENSG00000166257.10 | transcript | ENST00000299333.8 | protein_coding | 1140 | chr11 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38555055 | TTTTATAT others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp1 HG01975.hp2 HG02080.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0002 | a0001c0001t0002g0211 a0001c0001t0002g0272 a0001c0001t0002g0312 others(3): Show |
7 | 340 | 0.0206 | -8 | c.454 others(25): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 26/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38607461 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG02647.hp2 HG02818.hp1 HG03209.hp2 |
a0010a0014 | a0010c0025a0014c0060 | a0010c0025t0012a0014c0060t0024 | a0010c0025t0012g0335 a0010c0025t0012g0336 a0014c0060t0024g0047 |
3 | 340 | 0.0088 | -8 | c.999 others(23): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 8/27 | chr3 | TogoVar | |||||||
SCN5A_chr3_38543062_38654687 | 38624228 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02896.hp1 HG03098.hp2 others(2): Show |
a0001a0006a0025 | a0001c0012a0006c0024a0006c0068others(1): Show | a0001c0012t0001a0006c0024t0001a0006c0068t0017others(1): Show | a0001c0012t0001g0040 a0006c0024t0001g0001 a0006c0068t0017g0039 others(1): Show |
5 | 340 | 0.0147 | -8 | c.393 others(25): Show |
SCN5A | ENSG00000183873.18 | transcript | ENST00000413689.6 | protein_coding | 3/27 | chr3 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166414285 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp2 HG01169.hp2 others(10): Show |
a0001a0004a0011others(1): Show | a0001c0001a0001c0012a0001c0034others(3): Show | a0001c0001t0003a0001c0001t0020a0001c0012t0001others(6): Show | a0001c0001t0003g0043 a0001c0001t0020g0369 a0001c0012t0001g0357 others(10): Show |
13 | 394 | 0.0330 | -8 | c.341 others(27): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 21/25 | chr2 | TogoVar | |||||||
SCN7A_chr2_166398573_166499249 | 166456803 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG03041.hp2 HG03139.hp1 others(3): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0003a0001c0001t0015a0001c0001t0020others(1): Show | a0001c0001t0003g0354 a0001c0001t0015g0363 a0001c0001t0015g0364 others(3): Show |
6 | 394 | 0.0152 | -8 | c.129 others(23): Show |
SCN7A | ENSG00000136546.17 | transcript | ENST00000643258.1 | protein_coding | 11/25 | chr2 | TogoVar | |||||||
SCN8A_chr12_51586233_51817864 | 51618458 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01433.hp2 HG02145.hp2 HG03491.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0002t0001a0001c0003t0002 | a0001c0001t0004g0100 a0001c0002t0001g0174 a0001c0003t0002g0007 |
3 | 202 | 0.0149 | -8 | c.-55 others(27): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51618502 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG02615.hp1 HG02630.hp2 HG02886.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0006a0001c0002t0001 | a0001c0001t0004g0069 a0001c0001t0004g0070 a0001c0001t0004g0071 others(2): Show |
5 | 202 | 0.0248 | -8 | c.-55 others(27): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51629582 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00639.hp1 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(11): Show | a0001c0001t0003g0133 a0001c0001t0003g0134 a0001c0001t0003g0145 others(59): Show |
62 | 202 | 0.3069 | -8 | c.-54 others(27): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51640212 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00621.hp1 HG00735.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0014 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0003g0133 a0001c0001t0004g0162 a0001c0001t0006g0095 others(18): Show |
21 | 202 | 0.1040 | -8 | c.-54 others(27): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN8A_chr12_51586233_51817864 | 51728731 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(103): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0002g0099 a0001c0001t0003g0021 a0001c0001t0003g0029 others(103): Show |
106 | 202 | 0.5248 | -8 | c.199 others(27): Show |
SCN8A | ENSG00000196876.19 | transcript | ENST00000354534.11 | protein_coding | 12/26 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
SCN9A_chr2_166190185_166380944 | 166191678 | TATACACA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG02976.hp2 HG03139.hp2 HG03239.hp2 others(10): Show |
a0001a0022 | a0001c0001a0001c0003a0001c0006others(5): Show | a0001c0001t0002a0001c0001t0005a0001c0003t0002others(7): Show | a0001c0001t0002g0064 a0001c0001t0005g0037 a0001c0003t0002g0057 others(10): Show |
13 | 296 | 0.0439 | -8 | c.*69 others(19): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 3506 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166214532 | AGTCTCGC others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(289): Show |
a0001a0002a0003others(27): Show | a0001c0001a0001c0002a0001c0003others(68): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(121): Show | a0001c0001t0001g0031 a0001c0001t0001g0041 a0001c0001t0001g0042 others(288): Show |
292 | 296 | 0.9865 | -8 | c.439 others(29): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 24/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166288093 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp1 HG02280.hp2 others(11): Show |
a0001a0003a0004 | a0001c0007a0001c0011a0001c0030others(3): Show | a0001c0007t0005a0001c0011t0005a0001c0030t0005others(7): Show | a0001c0007t0005g0260 a0001c0011t0005g0045 a0001c0030t0005g0270 others(11): Show |
14 | 296 | 0.0473 | -8 | c.131 others(25): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 10/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166340540 | CCCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG02683.hp2 NA18972.hp1 |
a0001a0020 | a0001c0003a0020c0053 | a0001c0003t0002a0001c0003t0026a0020c0053t0001 | a0001c0003t0002g0057 a0001c0003t0026g0231 a0020c0053t0001g0210 |
3 | 296 | 0.0101 | -8 | c.-50 others(27): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166340541 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG01928.hp1 HG01943.hp2 others(17): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0042 a0001c0001t0001g0043 a0001c0001t0001g0062 others(17): Show |
20 | 296 | 0.0676 | -8 | c.-50 others(27): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166349126 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01123.hp1 others(30): Show |
a0001a0002a0004others(5): Show | a0001c0002a0001c0003a0001c0007others(13): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0028others(21): Show | a0001c0002t0001g0017 a0001c0002t0001g0250 a0001c0002t0001g0280 others(30): Show |
33 | 296 | 0.1115 | -8 | c.-51 others(27): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166349996 | ATAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02615.hp1 HG02976.hp2 others(2): Show |
a0001a0004a0022 | a0001c0002a0001c0005a0001c0007others(2): Show | a0001c0002t0021a0001c0005t0002a0001c0007t0005others(2): Show | a0001c0002t0021g0011 a0001c0005t0002g0074 a0001c0007t0005g0073 others(2): Show |
5 | 296 | 0.0169 | -8 | c.-51 others(27): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCN9A_chr2_166190185_166380944 | 166358034 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00642.hp2 others(52): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0003a0001c0004others(19): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0005others(24): Show | a0001c0002t0001g0232 a0001c0002t0001g0235 a0001c0002t0001g0237 others(51): Show |
55 | 296 | 0.1858 | -8 | c.-51 others(27): Show |
SCN9A | ENSG00000169432.19 | transcript | ENST00000642356.2 | protein_coding | 1/26 | chr2 | TogoVar | |||||||
SCNN1A_chr12_6341847_6380563 | 6350844 | TAATAAAT others(1): Show |
T | intron_variant | MODIFIER | HG03471.hp1 NA18940.hp1 NA18964.hp2 others(9): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0212 others(5): Show |
12 | 454 | 0.0264 | -8 | c.136 others(27): Show |
SCNN1A | ENSG00000111319.13 | transcript | ENST00000228916.7 | protein_coding | 8/12 | chr12 | TogoVar | |||||||
SCNN1A_chr12_6341847_6380563 | 6356437 | GGAATGAA others(1): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG02886.hp2 others(7): Show |
a0001 | a0001c0004 | a0001c0004t0001a0001c0004t0004 | a0001c0004t0001g0206 a0001c0004t0001g0207 a0001c0004t0001g0208 others(7): Show |
10 | 454 | 0.0220 | -8 | c.876 others(23): Show |
SCNN1A | ENSG00000111319.13 | transcript | ENST00000228916.7 | protein_coding | 4/12 | chr12 | TogoVar | |||||||
SCNN1B_chr16_23297302_23386294 | 23333103 | AAGGAAGG others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp1 HG02717.hp2 others(3): Show |
a0001a0006a0007 | a0001c0001a0001c0015a0006c0016others(1): Show | a0001c0001t0001a0001c0015t0001a0006c0016t0001others(1): Show | a0001c0001t0001g0071 a0001c0001t0001g0072 a0001c0001t0001g0099 others(3): Show |
6 | 306 | 0.0196 | -8 | c.-8- others(25): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1B_chr16_23297302_23386294 | 23333149 | AGAAGGAA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00741.hp2 others(28): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0072 a0001c0001t0001g0092 a0001c0001t0001g0094 others(28): Show |
31 | 306 | 0.1013 | -8 | c.-8- others(25): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1B_chr16_23297302_23386294 | 23343581 | GAGAAAGA others(1): Show |
G | intron_variant | MODIFIER | HG01070.hp2 HG01255.hp1 HG01255.hp2 others(18): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0112 others(18): Show |
21 | 306 | 0.0686 | -8 | c.-8- others(23): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1B_chr16_23297302_23386294 | 23343643 | GAAAGAAA others(1): Show |
G | intron_variant | MODIFIER | HG02622.hp1 HG02630.hp2 HG02965.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(1): Show | a0001c0001t0001g0053 a0001c0001t0001g0281 a0001c0001t0001g0282 others(5): Show |
8 | 306 | 0.0261 | -8 | c.-8- others(23): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1B_chr16_23297302_23386294 | 23365583 | GAAAGAGA others(1): Show |
G | intron_variant | MODIFIER | HG02896.hp2 HG02976.hp1 HG03195.hp2 others(1): Show |
a0002a0003 | a0002c0004a0003c0005 | a0002c0004t0001a0003c0005t0001 | a0002c0004t0001g0082 a0003c0005t0001g0065 a0003c0005t0001g0066 others(1): Show |
4 | 306 | 0.0131 | -8 | c.777 others(25): Show |
SCNN1B | ENSG00000168447.11 | transcript | ENST00000343070.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1296815 | CCGCACAC others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(76): Show |
a0001a0002a0005others(8): Show | a0001c0001a0001c0018a0002c0002others(12): Show | a0001c0001t0001a0001c0018t0001a0002c0002t0001others(13): Show | a0001c0001t0001g0252 a0001c0018t0001g0251 a0002c0002t0001g0003 others(76): Show |
79 | 290 | 0.2724 | -8 | c.*52 others(19): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 4791 | chr1 | TogoVar | |||||||
SCNN1G_chr16_23177745_23221883 | 23181743 | AAAGGAAG others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01123.hp2 HG01175.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0001g0123 a0001c0001t0001g0168 a0001c0001t0001g0177 others(17): Show |
20 | 320 | 0.0625 | -8 | c.-11 others(19): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 1001 | chr16 | TogoVar | |||||||
SCNN1G_chr16_23177745_23221883 | 23202264 | GTGGATGG others(1): Show |
G | intron_variant | MODIFIER | HG02896.hp1 NA18963.hp2 NA20805.hp2 |
a0001a0002 | a0001c0001a0001c0003a0002c0010 | a0001c0001t0001a0001c0003t0002a0002c0010t0003 | a0001c0001t0001g0035 a0001c0003t0002g0142 a0002c0010t0003g0025 |
3 | 320 | 0.0094 | -8 | c.107 others(27): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1G_chr16_23177745_23221883 | 23204288 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00597.hp1 HG00733.hp1 HG01074.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0013 a0001c0001t0001g0014 others(27): Show |
32 | 320 | 0.1000 | -8 | c.107 others(27): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCNN1G_chr16_23177745_23221883 | 23204328 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG01109.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 a0001c0001t0001g0016 a0001c0001t0001g0067 others(6): Show |
9 | 320 | 0.0281 | -8 | c.107 others(27): Show |
SCNN1G | ENSG00000166828.3 | transcript | ENST00000300061.3 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
SCOC_chr4_140368646_140390728 | 140369857 | ATTTTTTT others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(123): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(39): Show |
126 | 418 | 0.3014 | -8 | c.-39 others(19): Show |
SCOC | ENSG00000153130.18 | transcript | ENST00000608372.6 | protein_coding | 3788 | chr4 | TogoVar | |||||||
SCP2_chr1_52922276_53056698 | 52934592 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02280.hp1 HG02559.hp2 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0183 a0001c0001t0003g0184 a0001c0001t0003g0185 others(3): Show |
6 | 280 | 0.0214 | -8 | c.69+ others(23): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCP2_chr1_52922276_53056698 | 52956902 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(117): Show |
a0001 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0041 a0001c0001t0001g0042 a0001c0001t0001g0049 others(117): Show |
120 | 280 | 0.4286 | -8 | c.396 others(25): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCP2_chr1_52922276_53056698 | 53037879 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG03139.hp1 HG03831.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0006 | a0001c0001t0003g0232 a0001c0001t0003g0234 a0001c0001t0003g0236 others(5): Show |
8 | 280 | 0.0286 | -8 | c.133 others(25): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCP2_chr1_52922276_53056698 | 53037950 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 NA19009.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0049 a0001c0001t0001g0061 a0001c0001t0005g0077 |
3 | 280 | 0.0107 | -8 | c.133 others(25): Show |
SCP2 | ENSG00000116171.19 | transcript | ENST00000371514.8 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SCPEP1_chr17_56973131_57011768 | 56996207 | CTATTTAT others(1): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp2 HG02970.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0089 |
4 | 380 | 0.0105 | -8 | c.786 others(23): Show |
SCPEP1 | ENSG00000121064.13 | transcript | ENST00000262288.8 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
SCRG1_chr4_173379701_173404116 | 173389536 | AAAACAAA others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0018 | a0001c0001t0001g0074 a0001c0001t0001g0135 a0001c0001t0015g0197 others(3): Show |
7 | 380 | 0.0184 | -8 | c.243 others(25): Show |
SCRG1 | ENSG00000164106.8 | transcript | ENST00000296506.8 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
SCRN1_chr7_29915109_29994801 | 29984204 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG01069.hp1 HG01070.hp2 others(41): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(8): Show | a0001c0001t0002g0243 a0001c0001t0003g0003 a0001c0001t0003g0004 others(39): Show |
44 | 274 | 0.1606 | -8 | c.-2+ others(23): Show |
SCRN1 | ENSG00000136193.17 | transcript | ENST00000242059.10 | protein_coding | 1/7 | chr7 | TogoVar | |||||||
SCRN3_chr2_174390730_174434575 | 174419612 | CTCACAGT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00639.hp2 others(69): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002a0002c0002t0004others(1): Show | a0001c0001t0001g0223 a0002c0002t0002g0002 a0002c0002t0002g0009 others(35): Show |
72 | 364 | 0.1978 | -8 | c.755 others(25): Show |
SCRN3 | ENSG00000144306.15 | transcript | ENST00000272732.11 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SCRT2_chr20_656596_680802 | 672388 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(100): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0025 a0001c0001t0001g0048 others(54): Show |
103 | 458 | 0.2249 | -8 | c.133 others(25): Show |
SCRT2 | ENSG00000215397.4 | transcript | ENST00000246104.7 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
SCRT2_chr20_656596_680802 | 674399 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG01109.hp1 HG01168.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0102 a0001c0001t0001g0154 a0001c0001t0001g0165 others(8): Show |
11 | 458 | 0.0240 | -8 | c.133 others(25): Show |
SCRT2 | ENSG00000215397.4 | transcript | ENST00000246104.7 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
SCRT2_chr20_656596_680802 | 674725 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp1 HG01070.hp2 others(56): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0004 a0001c0001t0001g0056 a0001c0001t0001g0101 others(25): Show |
59 | 458 | 0.1288 | -8 | c.133 others(23): Show |
SCRT2 | ENSG00000215397.4 | transcript | ENST00000246104.7 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
SCTR_chr2_119434843_119529483 | 119444196 | CATATGTA others(1): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp2 HG02451.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0102 a0001c0001t0001g0110 a0001c0001t0001g0120 others(11): Show |
14 | 290 | 0.0483 | -8 | c.114 others(27): Show |
SCTR | ENSG00000080293.10 | transcript | ENST00000019103.8 | protein_coding | 11/12 | chr2 | TogoVar |