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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPTB_chr14_64741283_64884907 | 64787288 | GA | G | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG01081.hp1 others(46): Show |
a0002a0004a0005others(6): Show | a0002c0003a0002c0006a0002c0012others(19): Show | a0002c0003t0002a0002c0006t0008a0002c0006t0011others(26): Show | a0002c0003t0002g0128 a0002c0006t0008g0049 a0002c0006t0011g0181 others(45): Show |
49 | 268 | 0.1828 | -1 | c.280 others(9): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 15/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64791565 | CA | C | intron_variant | MODIFIER | HG00323.hp2 HG01071.hp2 HG01167.hp1 others(22): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0014others(6): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(13): Show | a0001c0001t0001g0144 a0001c0001t0001g0202 a0001c0002t0002g0084 others(22): Show |
25 | 268 | 0.0933 | -1 | c.280 others(9): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 15/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64803496 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00597.hp1 others(134): Show |
a0002a0003a0004others(15): Show | a0002c0003a0002c0005a0002c0006others(46): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0005others(80): Show | a0002c0003t0001g0063 a0002c0003t0001g0113 a0002c0003t0001g0263 others(133): Show |
137 | 268 | 0.5112 | -1 | c.474 others(8): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 4/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64809262 | CA | C | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 HG00609.hp2 others(40): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0002a0001c0009others(9): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(17): Show | a0001c0001t0001g0008 a0001c0001t0001g0231 a0001c0002t0001g0018 others(40): Show |
43 | 268 | 0.1605 | -1 | c.149 others(9): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 2/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64816857 | CT | C | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp1 HG00597.hp2 others(58): Show |
a0001a0002a0003others(7): Show | a0001c0009a0002c0003a0002c0005others(14): Show | a0001c0009t0001a0001c0009t0002a0002c0003t0001others(30): Show | a0001c0009t0001g0009 a0001c0009t0001g0014 a0001c0009t0002g0010 others(58): Show |
61 | 268 | 0.2276 | -1 | c.148 others(9): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 2/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64833550 | CA | C | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01081.hp1 others(61): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0002a0001c0014others(22): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(38): Show | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0135 others(60): Show |
64 | 268 | 0.2388 | -1 | c.-51 others(10): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 1/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64834793 | CA | C | intron_variant | MODIFIER | HG00642.hp1 HG01071.hp2 HG01074.hp1 others(104): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0014others(40): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(66): Show | a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 others(103): Show |
107 | 268 | 0.3993 | -1 | c.-51 others(10): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 1/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64836609 | TA | T | intron_variant | MODIFIER | HG01192.hp2 HG01243.hp2 HG01981.hp1 others(10): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0006a0003c0080others(5): Show | a0001c0001t0001a0001c0001t0006a0002c0006t0001others(8): Show | a0001c0001t0001g0156 a0001c0001t0006g0154 a0002c0006t0001g0149 others(10): Show |
13 | 268 | 0.0485 | -1 | c.-51 others(10): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 1/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64857577 | CA | C | intron_variant | MODIFIER | HG01081.hp1 HG01106.hp1 HG01884.hp1 others(29): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0009others(13): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(20): Show | a0001c0001t0001g0048 a0001c0001t0001g0064 a0001c0001t0006g0012 others(28): Show |
32 | 268 | 0.1194 | -1 | c.-52 others(10): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 1/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64859116 | TG | T | intron_variant | MODIFIER | HG01074.hp2 HG02451.hp2 HG03130.hp2 others(1): Show |
a0007 | a0007c0017a0007c0035 | a0007c0017t0001a0007c0035t0003 | a0007c0017t0001g0161 a0007c0017t0001g0163 a0007c0017t0001g0171 others(1): Show |
4 | 268 | 0.0149 | -1 | c.-52 others(10): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 1/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64859135 | TC | T | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02280.hp1 others(30): Show |
a0001a0002a0006others(4): Show | a0001c0002a0001c0021a0002c0003others(8): Show | a0001c0002t0001a0001c0021t0009a0002c0003t0001others(18): Show | a0001c0002t0001g0114 a0001c0021t0009g0101 a0001c0021t0009g0104 others(30): Show |
33 | 268 | 0.1231 | -1 | c.-52 others(10): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 1/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64862873 | CA | C | intron_variant | MODIFIER | HG00642.hp1 HG01168.hp1 HG02055.hp1 others(16): Show |
a0001a0002a0013 | a0001c0001a0001c0002a0001c0014others(6): Show | a0001c0001t0001a0001c0001t0026a0001c0002t0001others(10): Show | a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0135 others(16): Show |
19 | 268 | 0.0709 | -1 | c.-52 others(10): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 1/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64867859 | CA | C | intron_variant | MODIFIER | HG02615.hp2 HG02965.hp2 HG02976.hp1 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0014others(8): Show | a0001c0001t0001a0001c0002t0019a0001c0002t0033others(9): Show | a0001c0001t0001g0135 a0001c0002t0019g0143 a0001c0002t0033g0072 others(9): Show |
12 | 268 | 0.0448 | -1 | c.-52 others(10): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 1/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64869024 | TA | T | intron_variant | MODIFIER | HG00323.hp2 HG01256.hp1 HG01256.hp2 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0013others(3): Show | a0001c0001t0001g0202 a0001c0002t0001g0098 a0002c0003t0013g0112 others(3): Show |
6 | 268 | 0.0224 | -1 | c.-52 others(10): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 1/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64869621 | AT | A | intron_variant | MODIFIER | HG01256.hp1 HG02280.hp1 HG02559.hp1 others(8): Show |
a0001a0002a0018 | a0001c0002a0002c0003a0002c0005others(1): Show | a0001c0002t0001a0002c0003t0002a0002c0003t0009others(3): Show | a0001c0002t0001g0098 a0002c0003t0002g0128 a0002c0003t0009g0123 others(8): Show |
11 | 268 | 0.0410 | -1 | c.-52 others(10): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 1/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64870315 | GA | G | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01168.hp1 others(17): Show |
a0001a0002a0013 | a0001c0001a0001c0002a0001c0014others(6): Show | a0001c0001t0001a0001c0001t0026a0001c0002t0001others(10): Show | a0001c0001t0001g0062 a0001c0001t0001g0064 a0001c0001t0001g0065 others(17): Show |
20 | 268 | 0.0746 | -1 | c.-52 others(9): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 1/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64877150 | TA | T | intron_variant | MODIFIER | HG01106.hp2 HG01981.hp1 HG02129.hp2 others(12): Show |
a0001a0002a0007others(2): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(10): Show | a0001c0001t0001g0156 a0001c0001t0006g0154 a0001c0002t0001g0018 others(12): Show |
15 | 268 | 0.0560 | -1 | c.-52 others(9): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 1/35 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64882470 | CA | C | upstream_gene_variant | MODIFIER | HG01517.hp1 HG02896.hp1 HG02897.hp1 others(3): Show |
a0001a0002 | a0001c0002a0001c0022a0002c0026 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0002t0001g0018 a0001c0002t0002g0084 a0001c0002t0003g0099 others(3): Show |
6 | 268 | 0.0224 | -1 | c.-27 others(6): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 2564 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64883158 | CA | C | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG01496.hp1 others(10): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0008 a0001c0001t0003g0007 a0001c0001t0006g0012 others(10): Show |
13 | 268 | 0.0485 | -1 | c.-34 others(6): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 3252 | chr14 | TogoVar | |||||||
SPTB_chr14_64741283_64884907 | 64883356 | CT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(142): Show |
a0001a0002a0003others(20): Show | a0001c0001a0001c0002a0001c0009others(58): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(87): Show | a0001c0001t0001g0144 a0001c0001t0001g0146 a0001c0001t0001g0147 others(141): Show |
145 | 268 | 0.5410 | -1 | c.-36 others(6): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 3450 | chr14 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92026947 | CA | C | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02630.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0122 others(6): Show |
9 | 358 | 0.0251 | -1 | c.*55 others(6): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 4199 | chr9 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92027251 | CA | C | downstream_gene_variant | MODIFIER | HG01099.hp1 HG01109.hp1 HG01934.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0001g0145 others(5): Show |
8 | 358 | 0.0224 | -1 | c.*52 others(6): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 3895 | chr9 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92028764 | CA | C | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG01074.hp2 others(24): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0066 others(23): Show |
27 | 358 | 0.0754 | -1 | c.*37 others(6): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 2382 | chr9 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92032875 | CA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00544.hp2 others(137): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(124): Show |
140 | 358 | 0.3911 | -1 | c.132 others(9): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 14/14 | chr9 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92039133 | CA | C | intron_variant | MODIFIER | HG01891.hp2 HG02965.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 a0001c0001t0001g0272 a0001c0001t0001g0273 |
3 | 358 | 0.0084 | -1 | c.113 others(9): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 12/14 | chr9 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92040762 | GA | G | intron_variant | MODIFIER | HG00642.hp2 HG01070.hp2 HG01934.hp1 others(39): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0120 others(34): Show |
42 | 358 | 0.1173 | -1 | c.113 others(10): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 12/14 | chr9 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92042122 | CA | C | intron_variant | MODIFIER | HG02602.hp1 HG03654.hp2 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0254 |
3 | 358 | 0.0084 | -1 | c.113 others(10): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 12/14 | chr9 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92042636 | TG | T | intron_variant | MODIFIER | HG01099.hp1 HG01243.hp1 HG02109.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0140 a0001c0001t0001g0141 others(10): Show |
14 | 358 | 0.0391 | -1 | c.113 others(10): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 12/14 | chr9 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92045495 | TA | T | intron_variant | MODIFIER | HG00438.hp1 HG01081.hp2 HG01099.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0020 a0001c0001t0001g0063 others(14): Show |
19 | 358 | 0.0531 | -1 | c.113 others(9): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 12/14 | chr9 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92054916 | AG | A | intron_variant | MODIFIER | HG01074.hp2 HG01516.hp2 HG01517.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013a0001c0001t0014 | a0001c0001t0003g0019 a0001c0001t0003g0262 a0001c0001t0003g0263 others(5): Show |
9 | 358 | 0.0251 | -1 | c.780 others(8): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 8/14 | chr9 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92055600 | AT | A | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01109.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 a0001c0001t0001g0195 a0001c0001t0001g0212 others(3): Show |
6 | 358 | 0.0168 | -1 | c.691 others(8): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 7/14 | chr9 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92057280 | TG | T | intron_variant | MODIFIER | HG01081.hp2 HG02895.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0063 a0001c0001t0001g0064 |
4 | 358 | 0.0112 | -1 | c.691 others(9): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 7/14 | chr9 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92058427 | GA | G | intron_variant | MODIFIER | HG00733.hp2 HG01109.hp1 HG01255.hp1 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0007 a0001c0001t0002g0031 others(32): Show |
38 | 358 | 0.1062 | -1 | c.690 others(8): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 7/14 | chr9 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92060743 | TA | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00544.hp2 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0006 a0001c0001t0001g0023 a0001c0001t0001g0024 others(26): Show |
30 | 358 | 0.0838 | -1 | c.561 others(9): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 6/14 | chr9 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92066690 | AT | A | intron_variant | MODIFIER | NA18952.hp2 NA18955.hp1 NA18956.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0171 a0001c0001t0001g0173 others(2): Show |
6 | 358 | 0.0168 | -1 | c.560 others(9): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 6/14 | chr9 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92067318 | AC | A | intron_variant | MODIFIER | HG02258.hp1 HG02622.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0066 a0001c0001t0001g0068 a0001c0001t0001g0274 others(4): Show |
7 | 358 | 0.0196 | -1 | c.560 others(8): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 6/14 | chr9 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92071227 | TA | T | intron_variant | MODIFIER | HG01167.hp1 HG01884.hp2 HG01943.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0003 | a0001c0001t0001g0029 a0001c0001t0001g0086 a0001c0001t0001g0184 others(7): Show |
10 | 358 | 0.0279 | -1 | c.428 others(9): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 5/14 | chr9 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92086718 | GT | G | intron_variant | MODIFIER | HG00642.hp2 HG02015.hp2 HG02040.hp2 others(23): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0001a0003c0007t0001 | a0001c0001t0001g0018 a0001c0001t0001g0120 a0001c0001t0001g0121 others(22): Show |
26 | 358 | 0.0726 | -1 | c.261 others(9): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 3/14 | chr9 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92090618 | CA | C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00544.hp2 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(64): Show |
73 | 358 | 0.2039 | -1 | c.261 others(9): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 3/14 | chr9 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92090621 | AC | A | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG01074.hp2 others(77): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0063 others(71): Show |
80 | 358 | 0.2235 | -1 | c.261 others(9): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 3/14 | chr9 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92096899 | GA | G | intron_variant | MODIFIER | HG01081.hp2 HG02257.hp2 HG02615.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0020 a0001c0001t0001g0063 a0001c0001t0001g0064 others(3): Show |
7 | 358 | 0.0196 | -1 | c.260 others(10): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 3/14 | chr9 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92099480 | CT | C | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp1 HG02109.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0066 a0001c0001t0001g0068 others(26): Show |
30 | 358 | 0.0838 | -1 | c.260 others(9): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 3/14 | chr9 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92100837 | GA | G | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp1 HG01516.hp2 others(13): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(1): Show | a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 others(12): Show |
16 | 358 | 0.0447 | -1 | c.260 others(9): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 3/14 | chr9 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92101561 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(120): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(111): Show |
123 | 358 | 0.3436 | -1 | c.260 others(9): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 3/14 | chr9 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77501593 | CT | C | downstream_gene_variant | MODIFIER | HG00621.hp2 HG00642.hp2 HG00735.hp2 others(30): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(8): Show | a0001c0001t0001g0019 a0001c0001t0001g0090 a0001c0001t0001g0093 others(30): Show |
33 | 246 | 0.1342 | -1 | c.*10 others(7): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 4403 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77502320 | GT | G | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(24): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0006a0001c0001t0008a0001c0001t0011others(6): Show | a0001c0001t0006g0053 a0001c0001t0006g0155 a0001c0001t0008g0119 others(24): Show |
27 | 246 | 0.1098 | -1 | c.*99 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 3676 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77504178 | CT | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(147): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(24): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(146): Show |
150 | 246 | 0.6098 | -1 | c.*81 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 1818 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77508194 | AT | A | 3_prime_UTR_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG00741.hp1 others(15): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0008 | a0001c0001t0006a0001c0001t0008a0001c0001t0011others(2): Show | a0001c0001t0006g0053 a0001c0001t0006g0155 a0001c0001t0008g0119 others(15): Show |
18 | 246 | 0.0732 | -1 | c.*40 others(6): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 12/12 | 4089 | chr14 | TogoVar | ||||||
SPTLC2_chr14_77500997_77621637 | 77513016 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG01081.hp2 HG01167.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0005a0001c0001t0021a0001c0002t0005others(4): Show | a0001c0001t0005g0045 a0001c0001t0005g0074 a0001c0001t0005g0128 others(11): Show |
14 | 246 | 0.0569 | -1 | c.157 others(9): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77515542 | CT | C | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp2 HG02922.hp1 others(3): Show |
a0001a0003 | a0001c0005a0001c0006a0001c0013others(1): Show | a0001c0005t0038a0001c0006t0018a0001c0006t0022others(2): Show | a0001c0005t0038g0139 a0001c0006t0018g0018 a0001c0006t0018g0075 others(3): Show |
6 | 246 | 0.0244 | -1 | c.156 others(10): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 11/11 | chr14 | TogoVar |