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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPTA1_chr1_158605704_158691715 | 158649254 | TC | T | intron_variant | MODIFIER | HG02895.hp1 HG03130.hp2 HG03516.hp2 others(1): Show |
a0020a0050a0057 | a0020c0023a0050c0063a0057c0074 | a0020c0023t0007a0050c0063t0001a0057c0074t0011 | a0020c0023t0007g0257 a0020c0023t0007g0258 a0050c0063t0001g0259 others(1): Show |
4 | 370 | 0.0108 | -1 | c.356 others(9): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 25/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158664041 | TA | T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00597.hp1 others(114): Show |
a0001a0002a0003others(36): Show | a0001c0001a0001c0004a0001c0020others(54): Show | a0001c0001t0002a0001c0004t0006a0001c0004t0007others(70): Show | a0001c0001t0002g0080 a0001c0004t0006g0294 a0001c0004t0006g0302 others(110): Show |
117 | 370 | 0.3162 | -1 | c.222 others(10): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 16/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158667163 | CA | C | intron_variant | MODIFIER | HG00140.hp1 HG00741.hp2 HG01243.hp2 others(4): Show |
a0002a0003 | a0002c0002a0003c0011 | a0002c0002t0001a0002c0002t0032a0002c0002t0034others(2): Show | a0002c0002t0001g0187 a0002c0002t0001g0189 a0002c0002t0032g0177 others(4): Show |
7 | 370 | 0.0189 | -1 | c.203 others(9): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 15/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158668075 | GA | G | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00597.hp1 others(88): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0004a0001c0020others(40): Show | a0001c0001t0002a0001c0004t0006a0001c0004t0007others(50): Show | a0001c0001t0002g0068 a0001c0001t0002g0080 a0001c0004t0006g0294 others(83): Show |
91 | 370 | 0.2460 | -1 | c.183 others(8): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 14/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158672934 | CA | C | intron_variant | MODIFIER | HG00741.hp1 HG01891.hp2 HG01975.hp2 others(48): Show |
a0001a0002a0003others(32): Show | a0001c0073a0002c0002a0003c0024others(37): Show | a0001c0073t0007a0002c0002t0001a0003c0024t0025others(41): Show | a0001c0073t0007g0253 a0002c0002t0001g0194 a0003c0024t0025g0254 others(47): Show |
51 | 370 | 0.1378 | -1 | c.135 others(9): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 10/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158673223 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(355): Show |
a0001a0002a0003others(62): Show | a0001c0001a0001c0004a0001c0012others(91): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(130): Show | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0027 others(331): Show |
358 | 370 | 0.9676 | -1 | c.135 others(10): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 10/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158683788 | AT | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp1 others(94): Show |
a0001a0002a0003others(11): Show | a0001c0004a0001c0012a0002c0002others(14): Show | a0001c0004t0006a0001c0004t0009a0001c0012t0006others(26): Show | a0001c0004t0006g0190 a0001c0004t0006g0196 a0001c0004t0009g0245 others(84): Show |
97 | 370 | 0.2622 | -1 | c.265 others(8): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 2/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158683844 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(241): Show |
a0001a0002a0003others(38): Show | a0001c0001a0001c0004a0001c0050others(56): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(85): Show | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0027 others(227): Show |
244 | 370 | 0.6595 | -1 | c.265 others(8): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 2/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158684094 | AG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(155): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0073a0001c0083others(38): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(50): Show | a0001c0001t0002g0001 a0001c0001t0002g0006 a0001c0001t0002g0027 others(144): Show |
158 | 370 | 0.4270 | -1 | c.265 others(8): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 2/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158691548 | TA | T | upstream_gene_variant | MODIFIER | HG00741.hp1 HG02109.hp2 HG02486.hp2 others(24): Show |
a0004a0005a0011others(13): Show | a0004c0015a0004c0022a0004c0029others(18): Show | a0004c0015t0015a0004c0015t0039a0004c0022t0015others(21): Show | a0004c0015t0015g0332 a0004c0015t0039g0339 a0004c0022t0015g0334 others(23): Show |
27 | 370 | 0.0730 | -1 | c.-50 others(6): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 4834 | chr1 | TogoVar | |||||||
SPTAN1_chr9_128547587_128638662 | 128548230 | CT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(258): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(32): Show | a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0033 others(258): Show |
261 | 312 | 0.8365 | -1 | c.-44 others(6): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 4356 | chr9 | TogoVar | |||||||
SPTAN1_chr9_128547587_128638662 | 128549247 | CT | C | upstream_gene_variant | MODIFIER | HG01099.hp2 HG01496.hp2 HG02258.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0001a0001c0008t0001 | a0001c0001t0001g0083 a0001c0002t0001g0176 a0001c0008t0001g0167 others(5): Show |
8 | 312 | 0.0256 | -1 | c.-34 others(6): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 3339 | chr9 | TogoVar | |||||||
SPTAN1_chr9_128547587_128638662 | 128555620 | CT | C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(111): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0005a0001c0006others(12): Show | a0001c0002t0001a0001c0002t0005a0001c0005t0001others(13): Show | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(111): Show |
114 | 312 | 0.3654 | -1 | c.-4+ others(8): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 1/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128556300 | AC | A | intron_variant | MODIFIER | NA18957.hp2 NA18982.hp1 NA19089.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0156 a0001c0002t0001g0268 a0001c0002t0001g0269 |
3 | 312 | 0.0096 | -1 | c.-4+ others(8): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 1/56 | chr9 | TogoVar | |||||||
SPTAN1_chr9_128547587_128638662 | 128557798 | TC | T | intron_variant | MODIFIER | HG02615.hp1 HG02809.hp1 HG03540.hp1 |
a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0300 a0001c0010t0001g0301 a0001c0010t0001g0302 |
3 | 312 | 0.0096 | -1 | c.-4+ others(8): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 1/56 | chr9 | TogoVar | |||||||
SPTAN1_chr9_128547587_128638662 | 128557799 | CT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(84): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(15): Show | a0001c0001t0001g0138 a0001c0001t0001g0139 a0001c0001t0001g0140 others(84): Show |
87 | 312 | 0.2789 | -1 | c.-4+ others(8): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 1/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128561015 | CA | C | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02615.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005a0001c0010 | a0001c0001t0001a0001c0005t0001a0001c0010t0001 | a0001c0001t0001g0303 a0001c0005t0001g0015 a0001c0005t0001g0016 others(4): Show |
7 | 312 | 0.0224 | -1 | c.-3- others(8): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 1/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128563715 | CT | C | intron_variant | MODIFIER | HG01069.hp1 HG01167.hp2 HG02145.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0055 a0001c0001t0001g0133 a0001c0001t0001g0303 others(19): Show |
22 | 312 | 0.0705 | -1 | c.-3- others(8): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 1/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128564420 | GA | G | intron_variant | MODIFIER | HG02040.hp2 NA18949.hp1 NA18968.hp1 others(6): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0285 a0002c0004t0002g0277 a0002c0004t0002g0278 others(6): Show |
9 | 312 | 0.0289 | -1 | c.-3- others(8): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 1/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128572329 | GA | G | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(110): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0007others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(11): Show | a0001c0001t0001g0158 a0001c0002t0001g0001 a0001c0002t0001g0002 others(110): Show |
113 | 312 | 0.3622 | -1 | c.364 others(9): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 3/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128578835 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show |
a0001a0003a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(12): Show | a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0032 others(145): Show |
148 | 312 | 0.4744 | -1 | c.122 others(9): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 9/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128581474 | CA | C | intron_variant | MODIFIER | HG01069.hp1 HG01167.hp2 HG02145.hp2 others(5): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0292 a0001c0006t0001g0293 a0001c0006t0001g0294 others(5): Show |
8 | 312 | 0.0256 | -1 | c.146 others(9): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 11/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128582328 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(280): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(29): Show | a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0032 others(280): Show |
283 | 312 | 0.9071 | -1 | c.157 others(9): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 12/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128585015 | CT | C | intron_variant | MODIFIER | HG02145.hp1 HG02886.hp1 HG03195.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(1): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0139 others(4): Show |
7 | 312 | 0.0224 | -1 | c.256 others(9): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 18/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128586112 | GT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(173): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(14): Show | a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0033 others(173): Show |
176 | 312 | 0.5641 | -1 | c.277 others(9): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 19/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128588087 | TC | T | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG03098.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0007 a0001c0007t0001g0008 a0001c0007t0001g0009 |
3 | 312 | 0.0096 | -1 | c.287 others(9): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 20/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128589575 | CT | C | intron_variant | MODIFIER | HG01884.hp1 HG02040.hp2 HG02280.hp2 others(23): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0006t0001others(5): Show | a0001c0001t0001g0087 a0001c0001t0001g0136 a0001c0001t0001g0155 others(23): Show |
26 | 312 | 0.0833 | -1 | c.300 others(9): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 21/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128590553 | AG | A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG02647.hp2 others(12): Show |
a0001a0002 | a0001c0002a0001c0006a0001c0007others(1): Show | a0001c0002t0001a0001c0006t0001a0001c0007t0001others(2): Show | a0001c0002t0001g0190 a0001c0002t0001g0220 a0001c0002t0001g0267 others(12): Show |
15 | 312 | 0.0481 | -1 | c.300 others(9): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 21/56 | chr9 | TogoVar | |||||||
SPTAN1_chr9_128547587_128638662 | 128591067 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(278): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(29): Show | a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0032 others(278): Show |
281 | 312 | 0.9006 | -1 | c.300 others(9): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 21/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128592277 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(261): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(25): Show | a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0032 others(261): Show |
264 | 312 | 0.8462 | -1 | c.315 others(9): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 22/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128594249 | TC | T | frameshift_variant | HIGH | NA19083.hp1 | a0010 | a0010c0033 | a0010c0033t0001 | a0010c0033t0001g0165 | 1 | 312 | 0.0032 | -1 | c.329 others(5): Show |
p.Arg others(6): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 24/57 | 3405/7875 | 3292/7434 | 1098/2477 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
SPTAN1_chr9_128547587_128638662 | 128594804 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG01256.hp1 HG02040.hp2 others(22): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(6): Show | a0001c0001t0001g0033 a0001c0001t0001g0046 a0001c0001t0001g0068 others(22): Show |
25 | 312 | 0.0801 | -1 | c.341 others(9): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 24/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128594826 | AT | A | intron_variant | MODIFIER | HG02040.hp2 HG03669.hp2 HG03688.hp1 others(8): Show |
a0002 | a0002c0004 | a0002c0004t0001a0002c0004t0002 | a0002c0004t0001g0285 a0002c0004t0002g0275 a0002c0004t0002g0276 others(8): Show |
11 | 312 | 0.0353 | -1 | c.341 others(9): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 24/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128599685 | TA | T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(115): Show |
a0001a0004a0005others(1): Show | a0001c0002a0001c0005a0001c0007others(14): Show | a0001c0002t0001a0001c0002t0005a0001c0005t0001others(15): Show | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0003 others(115): Show |
118 | 312 | 0.3782 | -1 | c.354 others(9): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 26/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128605992 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(145): Show |
a0001a0003a0006others(3): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(13): Show | a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0032 others(145): Show |
148 | 312 | 0.4744 | -1 | c.404 others(9): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 31/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128606484 | TA | T | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG02615.hp2 others(11): Show |
a0001 | a0001c0002a0001c0007 | a0001c0002t0001a0001c0007t0001 | a0001c0002t0001g0178 a0001c0002t0001g0242 a0001c0002t0001g0250 others(11): Show |
14 | 312 | 0.0449 | -1 | c.404 others(10): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 31/56 | chr9 | TogoVar | |||||||
SPTAN1_chr9_128547587_128638662 | 128606486 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(246): Show |
a0001a0003a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(27): Show | a0001c0001t0001g0005 a0001c0001t0001g0027 a0001c0001t0001g0032 others(246): Show |
249 | 312 | 0.7981 | -1 | c.404 others(10): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 31/56 | chr9 | TogoVar | |||||||
SPTAN1_chr9_128547587_128638662 | 128617793 | AG | A | intron_variant | MODIFIER | HG02809.hp2 HG02970.hp1 HG03225.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0303 |
3 | 312 | 0.0096 | -1 | c.547 others(8): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 42/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128620724 | GA | G | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(111): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0001c0007others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(11): Show | a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0002t0001g0001 others(111): Show |
114 | 312 | 0.3654 | -1 | c.573 others(9): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 44/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128621180 | CT | C | frameshift_variant | HIGH | NA19001.hp1 | a0008 | a0008c0030 | a0008c0030t0001 | a0008c0030t0001g0065 | 1 | 312 | 0.0032 | -1 | c.576 others(5): Show |
p.Phe others(6): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 45/57 | 5873/7875 | 5760/7434 | 1920/2477 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||
SPTAN1_chr9_128547587_128638662 | 128623622 | AT | A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(103): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(12): Show | a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0001t0001g0156 others(103): Show |
106 | 312 | 0.3397 | -1 | c.583 others(9): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 45/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128623959 | AT | A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp1 others(142): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0006others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(16): Show | a0001c0001t0001g0136 a0001c0001t0001g0137 a0001c0002t0001g0001 others(142): Show |
145 | 312 | 0.4647 | -1 | c.583 others(9): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 45/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128624086 | CA | C | intron_variant | MODIFIER | HG01069.hp1 HG01167.hp2 HG02145.hp2 others(12): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0001c0006others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0055 a0001c0001t0001g0126 a0001c0003t0001g0029 others(12): Show |
15 | 312 | 0.0481 | -1 | c.583 others(9): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 45/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128638515 | CA | C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02895.hp1 HG03225.hp1 others(5): Show |
a0001 | a0001c0002a0001c0009 | a0001c0002t0001a0001c0009t0001 | a0001c0002t0001g0010 a0001c0002t0001g0011 a0001c0002t0001g0030 others(5): Show |
8 | 312 | 0.0256 | -1 | c.*51 others(6): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 4854 | chr9 | TogoVar | |||||||
SPTBN1_chr2_54451327_54676446 | 54454356 | CT | C | upstream_gene_variant | MODIFIER | HG01517.hp2 HG02109.hp1 HG02559.hp1 others(5): Show |
a0001a0011 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0003t0003a0001c0004t0004others(3): Show | a0001c0002t0001g0065 a0001c0002t0001g0077 a0001c0003t0003g0036 others(5): Show |
8 | 370 | 0.0216 | -1 | c.-22 others(6): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1970 | chr2 | TogoVar | |||||||
SPTBN1_chr2_54451327_54676446 | 54463090 | TG | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(58): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0002a0001c0001t0010a0001c0002t0001others(26): Show | a0001c0001t0002g0351 a0001c0001t0010g0238 a0001c0002t0001g0231 others(58): Show |
61 | 370 | 0.1649 | -1 | c.-48 others(9): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54466561 | CA | C | intron_variant | MODIFIER | HG00609.hp1 HG02572.hp2 HG03831.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0094 a0001c0001t0002g0095 a0001c0001t0004g0092 others(7): Show |
10 | 370 | 0.0270 | -1 | c.-48 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54468320 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(80): Show |
a0001a0003a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(30): Show | a0001c0001t0001g0156 a0001c0001t0002g0351 a0001c0001t0002g0367 others(80): Show |
83 | 370 | 0.2243 | -1 | c.-48 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54470250 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(163): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0156 a0001c0001t0002g0015 a0001c0001t0002g0030 others(163): Show |
166 | 370 | 0.4487 | -1 | c.-48 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54471475 | AT | A | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02258.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0005a0001c0001t0014a0001c0002t0001others(5): Show | a0001c0001t0005g0353 a0001c0001t0014g0104 a0001c0001t0014g0105 others(11): Show |
14 | 370 | 0.0378 | -1 | c.-48 others(10): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |