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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPSB2_chr12_6865935_6878303 | 6874301 | AT | A | upstream_gene_variant | MODIFIER | HG02895.hp1 HG02895.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0002 |
5 | 398 | 0.0126 | -1 | c.-11 others(6): Show |
SPSB2 | ENSG00000111671.10 | transcript | ENST00000524270.6 | protein_coding | 999 | chr12 | TogoVar | |||||||
SPSB2_chr12_6865935_6878303 | 6875355 | TA | T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(394): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0006 others(22): Show |
397 | 398 | 0.9975 | -1 | c.-22 others(6): Show |
SPSB2 | ENSG00000111671.10 | transcript | ENST00000524270.6 | protein_coding | 2053 | chr12 | TogoVar | |||||||
SPSB2_chr12_6865935_6878303 | 6876644 | CA | C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00609.hp2 others(39): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0003g0003 others(2): Show |
42 | 398 | 0.1055 | -1 | c.-34 others(6): Show |
SPSB2 | ENSG00000111671.10 | transcript | ENST00000524270.6 | protein_coding | 3342 | chr12 | TogoVar | |||||||
SPSB2_chr12_6865935_6878303 | 6877089 | CA | C | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01167.hp2 HG01169.hp2 others(3): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0005a0004c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0014 others(1): Show |
6 | 398 | 0.0151 | -1 | c.-39 others(6): Show |
SPSB2 | ENSG00000111671.10 | transcript | ENST00000524270.6 | protein_coding | 3787 | chr12 | TogoVar | |||||||
SPSB2_chr12_6865935_6878303 | 6877948 | CA | C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00609.hp2 others(40): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0002g0002 a0001c0001t0003g0003 others(3): Show |
43 | 398 | 0.1080 | -1 | c.-48 others(6): Show |
SPSB2 | ENSG00000111671.10 | transcript | ENST00000524270.6 | protein_coding | 4646 | chr12 | TogoVar | |||||||
SPSB3_chr16_1771712_1787571 | 1773388 | CG | C | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG04228.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 3 | 438 | 0.0069 | -1 | c.*37 others(6): Show |
SPSB3 | ENSG00000162032.16 | transcript | ENST00000566339.6 | protein_coding | 3323 | chr16 | TogoVar | |||||||
SPSB3_chr16_1771712_1787571 | 1776425 | CT | C | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02922.hp2 NA18906.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 4 | 438 | 0.0091 | -1 | c.*67 others(5): Show |
SPSB3 | ENSG00000162032.16 | transcript | ENST00000566339.6 | protein_coding | 286 | chr16 | TogoVar | |||||||
SPSB3_chr16_1771712_1787571 | 1783866 | TG | T | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02451.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0025 |
5 | 438 | 0.0114 | -1 | c.-13 others(6): Show |
SPSB3 | ENSG00000162032.16 | transcript | ENST00000566339.6 | protein_coding | 1296 | chr16 | TogoVar | |||||||
SPSB3_chr16_1771712_1787571 | 1784880 | AT | A | upstream_gene_variant | MODIFIER | HG01255.hp2 HG03209.hp2 NA18953.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0038 a0001c0001t0001g0060 |
3 | 438 | 0.0069 | -1 | c.-23 others(6): Show |
SPSB3 | ENSG00000162032.16 | transcript | ENST00000566339.6 | protein_coding | 2310 | chr16 | TogoVar | |||||||
SPSB4_chr3_141046347_141153611 | 141049302 | AT | A | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01167.hp1 HG01169.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0004a0001c0001t0009a0001c0001t0013others(20): Show | a0001c0001t0004g0152 a0001c0001t0009g0151 a0001c0001t0013g0006 others(30): Show |
34 | 254 | 0.1339 | -1 | c.-28 others(6): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2044 | chr3 | TogoVar | |||||||
SPSB4_chr3_141046347_141153611 | 141053735 | AT | A | intron_variant | MODIFIER | HG00738.hp2 HG01243.hp2 HG01884.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0023a0001c0001t0026a0001c0001t0034others(10): Show | a0001c0001t0023g0009 a0001c0001t0026g0222 a0001c0001t0034g0217 others(15): Show |
19 | 254 | 0.0748 | -1 | c.-15 others(10): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141054964 | CA | C | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp1 others(235): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(59): Show | a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0015 others(227): Show |
238 | 254 | 0.9370 | -1 | c.-15 others(10): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141061738 | CT | C | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp1 others(209): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(38): Show | a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0015 others(202): Show |
212 | 254 | 0.8347 | -1 | c.-15 others(10): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141071480 | AT | A | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00639.hp1 others(123): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(42): Show | a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0015 others(118): Show |
126 | 254 | 0.4961 | -1 | c.694 others(9): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141075892 | CA | C | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00639.hp1 others(69): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(16): Show | a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0015 others(67): Show |
72 | 254 | 0.2835 | -1 | c.694 others(9): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141081669 | GA | G | intron_variant | MODIFIER | HG00639.hp1 HG01255.hp1 HG01361.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0011a0001c0001t0016others(7): Show | a0001c0001t0002g0138 a0001c0001t0002g0179 a0001c0001t0002g0180 others(22): Show |
25 | 254 | 0.0984 | -1 | c.694 others(10): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141089559 | GA | G | intron_variant | MODIFIER | HG00639.hp1 HG01255.hp1 HG01361.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0011a0001c0001t0016others(6): Show | a0001c0001t0002g0138 a0001c0001t0002g0179 a0001c0001t0002g0180 others(21): Show |
24 | 254 | 0.0945 | -1 | c.694 others(10): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
SPSB4_chr3_141046347_141153611 | 141097278 | AC | A | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01169.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009a0001c0001t0013others(6): Show | a0001c0001t0006g0017 a0001c0001t0009g0147 a0001c0001t0009g0148 others(15): Show |
19 | 254 | 0.0748 | -1 | c.694 others(10): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141099185 | CT | C | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01167.hp1 others(25): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0006a0001c0001t0009a0001c0001t0011others(14): Show | a0001c0001t0006g0191 a0001c0001t0009g0147 a0001c0001t0009g0148 others(24): Show |
28 | 254 | 0.1102 | -1 | c.694 others(10): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141103830 | CT | C | intron_variant | MODIFIER | HG02055.hp2 HG02647.hp1 HG02965.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0020a0001c0001t0038others(2): Show | a0001c0001t0013g0149 a0001c0001t0020g0145 a0001c0001t0020g0155 others(4): Show |
7 | 254 | 0.0276 | -1 | c.694 others(10): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141106688 | TA | T | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02486.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0015a0001c0001t0020others(2): Show | a0001c0001t0010g0159 a0001c0001t0015g0167 a0001c0001t0015g0178 others(7): Show |
10 | 254 | 0.0394 | -1 | c.694 others(10): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141107966 | TA | T | intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG03041.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0015a0001c0002t0059 | a0001c0001t0010g0159 a0001c0001t0015g0167 a0001c0001t0015g0178 others(3): Show |
6 | 254 | 0.0236 | -1 | c.695 others(10): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141111354 | CT | C | intron_variant | MODIFIER | HG00738.hp2 HG01243.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0008a0001c0002t0052others(1): Show | a0001c0001t0002g0210 a0001c0002t0008g0223 a0001c0002t0008g0224 others(4): Show |
7 | 254 | 0.0276 | -1 | c.695 others(10): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141112644 | CA | C | intron_variant | MODIFIER | HG00558.hp1 HG00639.hp2 HG01099.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0027a0001c0001t0031others(4): Show | a0001c0001t0002g0049 a0001c0001t0002g0125 a0001c0001t0002g0163 others(13): Show |
16 | 254 | 0.0630 | -1 | c.695 others(10): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141116028 | CT | C | intron_variant | MODIFIER | HG01243.hp1 HG02630.hp1 HG02717.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0018a0001c0001t0026others(3): Show | a0001c0001t0004g0141 a0001c0001t0018g0001 a0001c0001t0026g0222 others(3): Show |
7 | 254 | 0.0276 | -1 | c.695 others(10): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141134018 | CT | C | intron_variant | MODIFIER | HG00738.hp2 HG01243.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0008a0001c0002t0052 | a0001c0002t0008g0223 a0001c0002t0008g0224 a0001c0002t0008g0226 others(4): Show |
7 | 254 | 0.0276 | -1 | c.695 others(10): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141134056 | CT | C | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp2 others(79): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(29): Show | a0001c0001t0002g0052 a0001c0001t0002g0125 a0001c0001t0002g0138 others(75): Show |
82 | 254 | 0.3228 | -1 | c.695 others(10): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141134549 | GT | G | intron_variant | MODIFIER | HG00639.hp1 HG01081.hp2 HG01255.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0001t0011a0001c0001t0016others(8): Show | a0001c0001t0002g0138 a0001c0001t0002g0179 a0001c0001t0002g0180 others(28): Show |
31 | 254 | 0.1221 | -1 | c.695 others(10): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141134882 | CT | C | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp1 HG01169.hp1 others(27): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0009others(15): Show | a0001c0001t0002g0210 a0001c0001t0006g0158 a0001c0001t0009g0147 others(26): Show |
30 | 254 | 0.1181 | -1 | c.695 others(10): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141142803 | CT | C | intron_variant | MODIFIER | HG01074.hp1 HG02523.hp1 HG02895.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0041a0001c0002t0001others(2): Show | a0001c0001t0002g0124 a0001c0001t0002g0162 a0001c0001t0041g0028 others(4): Show |
7 | 254 | 0.0276 | -1 | c.695 others(9): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141143154 | TG | T | intron_variant | MODIFIER | HG02055.hp2 HG02257.hp2 HG02647.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0006a0001c0001t0020a0001c0001t0034others(5): Show | a0001c0001t0006g0158 a0001c0001t0020g0145 a0001c0001t0020g0155 others(7): Show |
10 | 254 | 0.0394 | -1 | c.695 others(9): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | chr3 | TogoVar | |||||||
SPSB4_chr3_141046347_141153611 | 141145225 | TA | T | intron_variant | MODIFIER | HG00597.hp1 NA18959.hp2 NA18974.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0003t0004others(1): Show | a0001c0001t0002g0164 a0001c0001t0002g0190 a0001c0001t0002g0194 others(3): Show |
6 | 254 | 0.0236 | -1 | c.695 others(9): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141146772 | TA | T | intron_variant | MODIFIER | HG00544.hp1 HG01169.hp2 HG01175.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0001t0010a0001c0001t0011others(8): Show | a0001c0001t0006g0007 a0001c0001t0006g0008 a0001c0001t0006g0069 others(23): Show |
28 | 254 | 0.1102 | -1 | c.695 others(8): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPTA1_chr1_158605704_158691715 | 158608425 | AT | A | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp2 others(136): Show |
a0001a0002a0003others(35): Show | a0001c0001a0001c0004a0001c0012others(46): Show | a0001c0001t0002a0001c0004t0006a0001c0012t0006others(57): Show | a0001c0001t0002g0001 a0001c0001t0002g0080 a0001c0004t0006g0294 others(126): Show |
139 | 370 | 0.3757 | -1 | c.*28 others(6): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 2278 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158610262 | AG | A | downstream_gene_variant | MODIFIER | NA18612.hp2 NA18943.hp1 NA18967.hp2 others(2): Show |
a0002a0069 | a0002c0002a0002c0008a0069c0047 | a0002c0002t0001a0002c0008t0001a0069c0047t0001 | a0002c0002t0001g0212 a0002c0002t0001g0213 a0002c0002t0001g0227 others(2): Show |
5 | 370 | 0.0135 | -1 | c.*10 others(6): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 441 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158611817 | TG | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(72): Show |
a0002a0003a0009others(10): Show | a0002c0006a0003c0003a0003c0005others(15): Show | a0002c0006t0016a0003c0003t0003a0003c0003t0017others(32): Show | a0002c0006t0016g0008 a0002c0006t0016g0148 a0003c0003t0003g0016 others(67): Show |
75 | 370 | 0.2027 | -1 | c.713 others(9): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 51/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158617044 | TA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(198): Show |
a0002a0003a0005others(46): Show | a0002c0002a0002c0006a0002c0008others(60): Show | a0002c0002t0001a0002c0002t0032a0002c0002t0034others(85): Show | a0002c0002t0001g0003 a0002c0002t0001g0010 a0002c0002t0001g0011 others(183): Show |
201 | 370 | 0.5432 | -1 | c.660 others(9): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 47/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158620840 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00609.hp1 others(91): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0004a0001c0083others(31): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(49): Show | a0001c0001t0002g0091 a0001c0001t0002g0098 a0001c0001t0004g0037 others(86): Show |
94 | 370 | 0.2541 | -1 | c.612 others(9): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 43/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158621227 | TA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(93): Show |
a0003a0005a0008others(24): Show | a0003c0003a0003c0005a0003c0011others(34): Show | a0003c0003t0003a0003c0003t0017a0003c0003t0018others(52): Show | a0003c0003t0003g0016 a0003c0003t0003g0260 a0003c0003t0003g0263 others(89): Show |
96 | 370 | 0.2595 | -1 | c.612 others(9): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 43/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158624115 | TA | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(200): Show |
a0002a0003a0005others(45): Show | a0002c0002a0002c0006a0002c0008others(60): Show | a0002c0002t0001a0002c0002t0032a0002c0002t0034others(86): Show | a0002c0002t0001g0003 a0002c0002t0001g0010 a0002c0002t0001g0011 others(185): Show |
203 | 370 | 0.5487 | -1 | c.591 others(9): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 42/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158632170 | AC | A | intron_variant | MODIFIER | NA18953.hp1 NA18965.hp1 NA18972.hp2 others(1): Show |
a0002a0064 | a0002c0002a0064c0079 | a0002c0002t0001a0064c0079t0008 | a0002c0002t0001g0233 a0002c0002t0001g0241 a0002c0002t0001g0242 others(1): Show |
4 | 370 | 0.0108 | -1 | c.556 others(10): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 39/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158632282 | GA | G | intron_variant | MODIFIER | HG01261.hp2 HG01891.hp1 HG02109.hp2 others(11): Show |
a0005a0031a0035others(4): Show | a0005c0007a0005c0049a0005c0072others(7): Show | a0005c0007t0013a0005c0007t0033a0005c0049t0013others(8): Show | a0005c0007t0013g0272 a0005c0007t0013g0273 a0005c0007t0013g0274 others(11): Show |
14 | 370 | 0.0378 | -1 | c.556 others(10): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 39/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158632759 | CT | C | intron_variant | MODIFIER | HG02145.hp1 HG02559.hp1 HG02965.hp1 others(6): Show |
a0001a0002a0011others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0002a0001c0004t0007a0002c0002t0001others(4): Show | a0001c0001t0002g0070 a0001c0004t0007g0310 a0002c0002t0001g0180 others(6): Show |
9 | 370 | 0.0243 | -1 | c.556 others(10): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 39/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158633661 | GA | G | intron_variant | MODIFIER | HG01261.hp2 HG01891.hp1 HG02055.hp2 others(21): Show |
a0001a0003a0005others(9): Show | a0001c0001a0003c0005a0005c0007others(12): Show | a0001c0001t0005a0001c0001t0012a0003c0005t0021others(15): Show | a0001c0001t0005g0005 a0001c0001t0005g0081 a0001c0001t0012g0055 others(20): Show |
24 | 370 | 0.0649 | -1 | c.556 others(9): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 39/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158635076 | GC | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00408.hp1 others(93): Show |
a0003a0005a0008others(24): Show | a0003c0003a0003c0005a0003c0011others(34): Show | a0003c0003t0003a0003c0003t0017a0003c0003t0018others(52): Show | a0003c0003t0003g0016 a0003c0003t0003g0260 a0003c0003t0003g0263 others(89): Show |
96 | 370 | 0.2595 | -1 | c.543 others(9): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 38/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158638745 | CA | C | intron_variant | MODIFIER | HG00280.hp1 HG01256.hp2 HG01934.hp2 others(3): Show |
a0001a0018 | a0001c0001a0001c0012a0001c0054others(2): Show | a0001c0001t0002a0001c0012t0007a0001c0054t0007others(2): Show | a0001c0001t0002g0033 a0001c0001t0002g0054 a0001c0012t0007g0208 others(3): Show |
6 | 370 | 0.0162 | -1 | c.498 others(9): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 35/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158642100 | AC | A | intron_variant | MODIFIER | HG02257.hp1 HG02572.hp1 HG03098.hp1 |
a0005a0048 | a0005c0049a0005c0072a0048c0036 | a0005c0049t0013a0005c0072t0037a0048c0036t0048 | a0005c0049t0013g0280 a0005c0072t0037g0327 a0048c0036t0048g0173 |
3 | 370 | 0.0081 | -1 | c.473 others(9): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 33/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158645285 | AT | A | frameshift_variant | HIGH | NA18972.hp1 | a0063 | a0063c0053 | a0063c0053t0057 | a0063c0053t0057g0295 | 1 | 370 | 0.0027 | -1 | c.409 others(5): Show |
p.Ile others(6): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 29/52 | 4294/8018 | 4096/7260 | 1366/2419 | chr1 | TogoVar | |||
SPTA1_chr1_158605704_158691715 | 158645319 | GT | G | frameshift_variant | HIGH | NA18972.hp1 | a0063 | a0063c0053 | a0063c0053t0057 | a0063c0053t0057g0295 | 1 | 370 | 0.0027 | -1 | c.406 others(5): Show |
p.Glu others(6): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 29/52 | 4260/8018 | 4062/7260 | 1354/2419 | chr1 | TogoVar | |||
SPTA1_chr1_158605704_158691715 | 158645538 | GC | G | frameshift_variant | HIGH | NA18972.hp1 | a0063 | a0063c0053 | a0063c0053t0057 | a0063c0053t0057g0295 | 1 | 370 | 0.0027 | -1 | c.395 others(5): Show |
p.Ala others(6): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 28/52 | 4150/8018 | 3952/7260 | 1318/2419 | chr1 | TogoVar |