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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SBNO1_chr12_123284109_123369847 | 123303658 | GTAACAT | G | intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG01884.hp1 others(26): Show |
a0001 | a0001c0005a0001c0008a0001c0012 | a0001c0005t0006a0001c0005t0012a0001c0005t0015others(10): Show | a0001c0005t0006g0104 a0001c0005t0006g0105 a0001c0005t0006g0106 others(26): Show |
29 | 260 | 0.1115 | -6 | c.376 others(23): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 29/31 | chr12 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123311720 | CTATATA | C | intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 homoSapiens_chm13v2.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0033a0002c0004t0002 | a0001c0001t0033g0167 a0001c0001t0033g0186 a0002c0004t0002g0053 |
3 | 260 | 0.0115 | -6 | c.322 others(23): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 24/31 | chr12 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123327001 | TTTTTTG | T | intron_variant | MODIFIER | HG01358.hp1 HG02602.hp1 HG03491.hp2 others(6): Show |
a0003 | a0003c0007 | a0003c0007t0008a0003c0007t0039a0003c0007t0041others(1): Show | a0003c0007t0008g0001 a0003c0007t0008g0016 a0003c0007t0008g0017 others(6): Show |
9 | 260 | 0.0346 | -6 | c.169 others(23): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 13/31 | chr12 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123338887 | CACCCCG | C | intron_variant | MODIFIER | HG00280.hp2 HG01943.hp2 HG01952.hp2 others(3): Show |
a0001 | a0001c0006a0001c0014 | a0001c0006t0010a0001c0006t0035a0001c0014t0036 | a0001c0006t0010g0009 a0001c0006t0010g0011 a0001c0006t0010g0013 others(3): Show |
6 | 260 | 0.0231 | -6 | c.651 others(23): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 5/31 | chr12 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123358742 | CAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG01358.hp1 HG01943.hp2 others(18): Show |
a0001a0003 | a0001c0005a0001c0006a0001c0014others(1): Show | a0001c0005t0025a0001c0006t0010a0001c0006t0011others(9): Show | a0001c0005t0025g0094 a0001c0006t0010g0007 a0001c0006t0010g0009 others(18): Show |
21 | 260 | 0.0808 | -6 | c.-1+ others(21): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 1/31 | chr12 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123358762 | AAAAAAG | A | intron_variant | MODIFIER | HG00140.hp2 HG01069.hp2 HG01074.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0029others(6): Show | a0001c0001t0001g0120 a0001c0001t0001g0171 a0001c0001t0004g0210 others(7): Show |
10 | 260 | 0.0385 | -6 | c.-1+ others(21): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 1/31 | chr12 | TogoVar | |||||||
SBNO1_chr12_123284109_123369847 | 123362435 | CAAAAAA | C | intron_variant | MODIFIER | HG01884.hp2 HG01943.hp1 HG01993.hp1 others(13): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0017others(11): Show | a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0013g0127 others(13): Show |
16 | 260 | 0.0615 | -6 | c.-1+ others(21): Show |
SBNO1 | ENSG00000139697.14 | transcript | ENST00000602398.3 | protein_coding | 1/31 | chr12 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1105840 | TGGGGTG | T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00673.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0040a0002c0003others(1): Show | a0001c0001t0001a0001c0040t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0165 a0001c0040t0001g0139 a0002c0003t0001g0020 others(16): Show |
19 | 203 | 0.0936 | -6 | c.*23 others(17): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1797 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1164387 | CAGGAGG | C | intron_variant | MODIFIER | HG03516.hp2 NA19030.hp1 |
a0003a0008 | a0003c0012a0008c0019 | a0003c0012t0002a0008c0019t0001 | a0003c0012t0002g0005 a0008c0019t0001g0034 |
2 | 203 | 0.0099 | -6 | c.-12 others(25): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1164414 | GAGGAAC | G | intron_variant | MODIFIER | HG02683.hp2 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0023 |
2 | 203 | 0.0099 | -6 | c.-12 others(25): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1164693 | GAAGAAC | G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(49): Show |
a0000a0001a0002others(2): Show | a0000c0009a0000c0042a0001c0001others(12): Show | a0000c0009t0001a0000c0009t0003a0000c0042t0001others(14): Show | a0000c0009t0001g0152 a0000c0009t0001g0168 a0000c0009t0001g0169 others(49): Show |
52 | 203 | 0.2562 | -6 | c.-12 others(25): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1166225 | TTCCAGA | T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(72): Show |
a0000a0001a0002others(5): Show | a0000c0009a0000c0042a0001c0001others(20): Show | a0000c0009t0001a0000c0009t0003a0000c0042t0001others(26): Show | a0000c0009t0001g0152 a0000c0009t0001g0168 a0000c0009t0001g0169 others(72): Show |
75 | 203 | 0.3695 | -6 | c.-12 others(25): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1166615 | GCGCACA | G | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp1 others(39): Show |
a0000a0001a0002others(1): Show | a0000c0009a0001c0001a0001c0002others(8): Show | a0000c0009t0001a0000c0009t0003a0001c0001t0001others(10): Show | a0000c0009t0001g0152 a0000c0009t0001g0168 a0000c0009t0001g0169 others(39): Show |
42 | 203 | 0.2069 | -6 | c.-12 others(25): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBNO2_chr19_1102638_1179268 | 1166617 | GCACACA | G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp2 others(109): Show |
a0000a0001a0002others(3): Show | a0000c0009a0000c0014a0000c0033others(29): Show | a0000c0009t0001a0000c0014t0001a0000c0033t0002others(34): Show | a0000c0009t0001g0053 a0000c0014t0001g0002 a0000c0014t0001g0067 others(109): Show |
112 | 203 | 0.5517 | -6 | c.-12 others(25): Show |
SBNO2 | ENSG00000064932.16 | transcript | ENST00000361757.8 | protein_coding | 1/31 | chr19 | TogoVar | |||||||
SBSN_chr19_35518367_35533311 | 35519156 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00741.hp2 others(34): Show |
a0001a0002a0004others(3): Show | a0001c0003a0001c0005a0001c0012others(6): Show | a0001c0003t0001a0001c0005t0001a0001c0012t0001others(6): Show | a0001c0003t0001g0016 a0001c0005t0001g0007 a0001c0005t0001g0025 others(10): Show |
37 | 450 | 0.0822 | -6 | c.*43 others(17): Show |
SBSN | ENSG00000189001.11 | transcript | ENST00000452271.7 | protein_coding | 4210 | chr19 | TogoVar | |||||||
SBSPON_chr8_73059543_73098172 | 73068870 | TAAAATC | T | intron_variant | MODIFIER | HG00438.hp1 HG02074.hp2 NA19072.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0003c0005t0005 | a0001c0001t0001g0248 a0003c0005t0005g0287 a0003c0005t0005g0288 |
3 | 414 | 0.0073 | -6 | c.677 others(21): Show |
SBSPON | ENSG00000164764.11 | transcript | ENST00000297354.7 | protein_coding | 4/4 | chr8 | TogoVar | |||||||
SBSPON_chr8_73059543_73098172 | 73084749 | GACACAC | G | intron_variant | MODIFIER | HG00597.hp2 HG01255.hp2 HG01256.hp1 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0018a0002c0002t0002others(2): Show | a0001c0001t0001g0007 a0001c0001t0001g0113 a0001c0001t0001g0145 others(10): Show |
20 | 414 | 0.0483 | -6 | c.215 others(23): Show |
SBSPON | ENSG00000164764.11 | transcript | ENST00000297354.7 | protein_coding | 1/4 | chr8 | TogoVar | |||||||
SC5D_chr11_121287771_121318410 | 121314315 | ATTTTTT | A | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02886.hp2 HG03041.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0014others(2): Show | a0001c0001t0003g0003 a0001c0001t0003g0028 a0001c0001t0005g0005 others(4): Show |
9 | 424 | 0.0212 | -6 | c.*68 others(17): Show |
SC5D | ENSG00000109929.10 | transcript | ENST00000264027.9 | protein_coding | 906 | chr11 | TogoVar | |||||||
SCAF11_chr12_45914131_45995574 | 45972887 | TATATAG | T | intron_variant | MODIFIER | HG01109.hp1 HG02258.hp1 HG02615.hp1 others(2): Show |
a0001a0009 | a0001c0001a0009c0014 | a0001c0001t0003a0009c0014t0003 | a0001c0001t0003g0290 a0001c0001t0003g0291 a0001c0001t0003g0292 others(1): Show |
5 | 344 | 0.0145 | -6 | c.-21 others(23): Show |
SCAF11 | ENSG00000139218.18 | transcript | ENST00000369367.8 | protein_coding | 1/14 | chr12 | TogoVar | |||||||
SCAF1_chr19_49637209_49663642 | 49652104 | GCCGCTC | G | conservative_inframe_deletion | MODERATE | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(198): Show |
a0001a0003a0011others(5): Show | a0001c0002a0001c0003a0001c0008others(13): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(17): Show | a0001c0002t0001g0001 a0001c0002t0001g0003 a0001c0002t0001g0004 others(88): Show |
201 | 382 | 0.5262 | -6 | c.174 others(15): Show |
p.Arg others(13): Show |
SCAF1 | ENSG00000126461.15 | transcript | ENST00000360565.8 | protein_coding | 7/11 | 1781/4222 | 1741/3939 | 581/1312 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||
SCAF1_chr19_49637209_49663642 | 49659984 | TACACAC | T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01346.hp1 HG02155.hp2 others(5): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0001 | a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0089 others(2): Show |
8 | 382 | 0.0209 | -6 | c.*15 others(17): Show |
SCAF1 | ENSG00000126461.15 | transcript | ENST00000360565.8 | protein_coding | 1343 | chr19 | TogoVar | |||||||
SCAF4_chr21_31666000_31737118 | 31717898 | CATATAT | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02622.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0003t0001 | a0001c0001t0001g0004 a0001c0001t0001g0173 a0001c0002t0001g0150 others(2): Show |
6 | 352 | 0.0171 | -6 | c.31- others(23): Show |
SCAF4 | ENSG00000156304.15 | transcript | ENST00000286835.12 | protein_coding | 1/19 | chr21 | TogoVar | |||||||
SCAF4_chr21_31666000_31737118 | 31717902 | TATACAC | T | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00609.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0046 a0001c0001t0001g0091 others(8): Show |
11 | 352 | 0.0313 | -6 | c.31- others(23): Show |
SCAF4 | ENSG00000156304.15 | transcript | ENST00000286835.12 | protein_coding | 1/19 | chr21 | TogoVar | |||||||
SCAF4_chr21_31666000_31737118 | 31717904 | TACACAC | T | intron_variant | MODIFIER | HG01358.hp2 HG01934.hp1 HG02135.hp2 others(10): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0004t0001others(2): Show | a0001c0001t0001g0134 a0001c0001t0001g0156 a0001c0001t0001g0157 others(10): Show |
13 | 352 | 0.0369 | -6 | c.31- others(23): Show |
SCAF4 | ENSG00000156304.15 | transcript | ENST00000286835.12 | protein_coding | 1/19 | chr21 | TogoVar | |||||||
SCAF8_chr6_154728416_154839221 | 154747896 | CTGTGTG | C | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00558.hp2 others(54): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(2): Show | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0089 others(54): Show |
57 | 282 | 0.2021 | -6 | c.30+ others(23): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAF8_chr6_154728416_154839221 | 154770388 | ACTCTCT | A | intron_variant | MODIFIER | HG02258.hp2 HG02630.hp1 HG02717.hp2 others(4): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0002a0001c0001t0003a0001c0013t0002 | a0001c0001t0002g0200 a0001c0001t0003g0080 a0001c0001t0003g0081 others(4): Show |
7 | 282 | 0.0248 | -6 | c.31- others(21): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAF8_chr6_154728416_154839221 | 154778769 | ATGTGTG | A | intron_variant | MODIFIER | HG01109.hp1 HG02109.hp2 HG02280.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0171 a0001c0001t0003g0267 a0001c0001t0003g0268 others(3): Show |
6 | 282 | 0.0213 | -6 | c.159 others(21): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAF8_chr6_154728416_154839221 | 154779781 | GTATATA | G | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00544.hp1 others(78): Show |
a0001a0004a0007 | a0001c0001a0001c0008a0001c0015others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0002others(3): Show | a0001c0001t0001g0066 a0001c0001t0001g0067 a0001c0001t0001g0068 others(78): Show |
81 | 282 | 0.2872 | -6 | c.159 others(23): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAF8_chr6_154728416_154839221 | 154784120 | GATATAT | G | intron_variant | MODIFIER | HG02080.hp2 HG03486.hp2 HG03669.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0066 a0001c0001t0001g0071 a0001c0001t0001g0271 others(2): Show |
5 | 282 | 0.0177 | -6 | c.160 others(23): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAF8_chr6_154728416_154839221 | 154794778 | GGGGTGT | G | intron_variant | MODIFIER | HG00673.hp1 HG01081.hp1 HG01169.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0124 a0001c0001t0001g0192 a0001c0001t0001g0206 others(8): Show |
11 | 282 | 0.0390 | -6 | c.476 others(21): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAF8_chr6_154728416_154839221 | 154794780 | GGTGTGT | G | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG02040.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0065 a0001c0001t0001g0089 a0001c0001t0001g0092 others(20): Show |
23 | 282 | 0.0816 | -6 | c.476 others(21): Show |
SCAF8 | ENSG00000213079.10 | transcript | ENST00000367178.8 | protein_coding | 5/19 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SCAI_chr9_124937608_125148528 | 125004734 | CATATAT | C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00621.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0003a0001c0001t0020a0001c0001t0078others(3): Show | a0001c0001t0003g0144 a0001c0001t0003g0145 a0001c0001t0003g0165 others(9): Show |
12 | 306 | 0.0392 | -6 | c.862 others(23): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 9/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125084158 | CTTTTTT | C | intron_variant | MODIFIER | HG02451.hp1 HG02622.hp2 HG02886.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0080 | a0001c0001t0001g0037 a0001c0001t0001g0038 a0001c0001t0001g0039 others(6): Show |
9 | 306 | 0.0294 | -6 | c.99- others(23): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125092131 | TAAAAAA | T | intron_variant | MODIFIER | HG02280.hp2 HG02886.hp1 HG02976.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0028others(2): Show | a0001c0001t0002g0032 a0001c0001t0002g0125 a0001c0001t0006g0122 others(4): Show |
7 | 306 | 0.0229 | -6 | c.99- others(23): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | |||||||
SCAI_chr9_124937608_125148528 | 125114768 | CTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00673.hp2 others(59): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0001a0002c0002t0006a0002c0002t0007others(12): Show | a0002c0002t0001g0001 a0002c0002t0001g0217 a0002c0002t0001g0218 others(59): Show |
62 | 306 | 0.2026 | -6 | c.98+ others(23): Show |
SCAI | ENSG00000173611.18 | transcript | ENST00000336505.11 | protein_coding | 2/17 | chr9 | TogoVar | |||||||
SCAMP1_chr5_78355617_78485739 | 78382776 | GGTGTGT | G | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG01891.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0015others(2): Show | a0001c0001t0001g0186 a0001c0001t0001g0196 a0001c0001t0001g0197 others(18): Show |
21 | 332 | 0.0633 | -6 | c.58- others(21): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78402576 | TTATCTC | T | intron_variant | MODIFIER | HG00408.hp2 NA18986.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0298 a0001c0001t0003g0306 a0001c0001t0003g0308 |
3 | 332 | 0.0090 | -6 | c.136 others(25): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78403950 | CAAAAAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02647.hp2 HG03041.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0018a0001c0001t0029 | a0001c0001t0008g0176 a0001c0001t0008g0177 a0001c0001t0008g0178 others(6): Show |
9 | 332 | 0.0271 | -6 | c.136 others(25): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
SCAMP1_chr5_78355617_78485739 | 78447789 | CTTTCTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00642.hp2 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0021a0001c0001t0028others(1): Show | a0001c0001t0002g0002 a0001c0001t0002g0064 a0001c0001t0002g0065 others(61): Show |
65 | 332 | 0.1958 | -6 | c.633 others(23): Show |
SCAMP1 | ENSG00000085365.18 | transcript | ENST00000621999.5 | protein_coding | 6/8 | chr5 | TogoVar | |||||||
SCAMP2_chr15_74838730_74878365 | 74862853 | TACACAC | T | intron_variant | MODIFIER | HG00140.hp2 HG01346.hp1 HG01891.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0112 a0001c0001t0001g0115 a0001c0001t0001g0116 others(5): Show |
8 | 386 | 0.0207 | -6 | c.58- others(21): Show |
SCAMP2 | ENSG00000140497.16 | transcript | ENST00000268099.13 | protein_coding | 1/8 | chr15 | TogoVar | |||||||
SCAMP3_chr1_155250981_155267360 | 155252720 | ATATTTT | A | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00621.hp2 NA18950.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0042 |
8 | 375 | 0.0213 | -6 | c.*35 others(17): Show |
SCAMP3 | ENSG00000116521.11 | transcript | ENST00000302631.8 | protein_coding | 3260 | chr1 | TogoVar | |||||||
SCAMP3_chr1_155250981_155267360 | 155252722 | ATTTTTT | A | downstream_gene_variant | MODIFIER | NA18947.hp2 NA18949.hp2 NA18952.hp2 others(5): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0020 others(2): Show |
8 | 375 | 0.0213 | -6 | c.*35 others(17): Show |
SCAMP3 | ENSG00000116521.11 | transcript | ENST00000302631.8 | protein_coding | 3258 | chr1 | TogoVar | |||||||
SCAMP4_chr19_1900399_1931013 | 1920208 | CCCTTGT | C | intron_variant | MODIFIER | HG02280.hp2 HG02615.hp2 HG03540.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0022 | a0001c0001t0001g0304 a0001c0001t0001g0305 a0001c0001t0022g0303 |
3 | 442 | 0.0068 | -6 | c.395 others(23): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SCAMP4_chr19_1900399_1931013 | 1930482 | TGTGAGA | T | downstream_gene_variant | MODIFIER | HG02145.hp2 NA18942.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0042 a0001c0001t0005g0129 a0001c0001t0005g0166 |
3 | 442 | 0.0068 | -6 | c.*61 others(17): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 4470 | chr19 | TogoVar | |||||||
SCAMP4_chr19_1900399_1931013 | 1930484 | TGAGAGA | T | downstream_gene_variant | MODIFIER | HG00323.hp2 NA18612.hp1 NA18954.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0030 | a0001c0001t0001g0033 a0001c0001t0001g0090 a0001c0001t0001g0094 others(2): Show |
5 | 442 | 0.0113 | -6 | c.*62 others(17): Show |
SCAMP4 | ENSG00000227500.11 | transcript | ENST00000316097.13 | protein_coding | 4472 | chr19 | TogoVar | |||||||
SCAND1_chr20_35948624_35959502 | 35951517 | ATATATG | A | downstream_gene_variant | MODIFIER | HG02451.hp1 HG02559.hp2 HG02572.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 374 | 0.0080 | -6 | c.*22 others(17): Show |
SCAND1 | ENSG00000171222.11 | transcript | ENST00000305978.7 | protein_coding | 2106 | chr20 | TogoVar | |||||||
SCAND1_chr20_35948624_35959502 | 35959317 | ATATTAT | A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp2 others(102): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(5): Show |
105 | 374 | 0.2808 | -6 | c.-49 others(17): Show |
SCAND1 | ENSG00000171222.11 | transcript | ENST00000305978.7 | protein_coding | 4816 | chr20 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76357150 | TCACACA | T | intron_variant | MODIFIER | HG02970.hp1 HG03098.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 a0001c0001t0001g0216 a0001c0001t0001g0217 others(1): Show |
4 | 312 | 0.0128 | -6 | c.385 others(25): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 29/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76366086 | TACACAC | T | intron_variant | MODIFIER | HG01070.hp2 HG02257.hp1 HG03041.hp2 others(2): Show |
a0001a0002a0003 | a0001c0018a0002c0002a0003c0003 | a0001c0018t0001a0002c0002t0002a0003c0003t0002 | a0001c0018t0001g0173 a0002c0002t0002g0297 a0002c0002t0002g0298 others(2): Show |
5 | 312 | 0.0160 | -6 | c.385 others(27): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 29/31 | chr15 | TogoVar | |||||||
SCAPER_chr15_76342904_76910340 | 76401115 | ATATATG | A | intron_variant | MODIFIER | HG01243.hp1 HG01255.hp2 HG02109.hp1 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0167 a0001c0010t0001g0168 a0001c0010t0001g0169 |
3 | 312 | 0.0096 | -6 | c.346 others(25): Show |
SCAPER | ENSG00000140386.13 | transcript | ENST00000563290.6 | protein_coding | 27/31 | chr15 | TogoVar |