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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SPRY3_chrX_155607586_155787459 | 155624517 | C | CTATCATC others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0036 | a0001c0001t0007g0099 a0001c0001t0036g0098 |
2 | 231 | 0.0087 | 8 | c.-28 others(29): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | chrX | TogoVar | |||||||
SPRY3_chrX_155607586_155787459 | 155632219 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01496.hp2 HG02258.hp1 others(17): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(16): Show | a0001c0001t0002g0216 a0001c0001t0003g0110 a0001c0001t0007g0131 others(17): Show |
20 | 231 | 0.0866 | 8 | c.-28 others(29): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155638293 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01261.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0002t0029 | a0001c0001t0010g0083 a0001c0002t0029g0052 |
2 | 231 | 0.0087 | 8 | c.-28 others(29): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155649974 | T | TAAACAAA others(1): Show |
intron_variant | MODIFIER | HG03239.hp1 | a0001 | a0001c0002 | a0001c0002t0054 | a0001c0002t0054g0105 | 1 | 231 | 0.0043 | 8 | c.-28 others(29): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155659104 | C | CTTCTTTC others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00642.hp1 HG01346.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(34): Show | a0001c0001t0003g0082 a0001c0001t0004g0061 a0001c0001t0004g0126 others(39): Show |
42 | 231 | 0.1818 | 8 | c.-28 others(29): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155680145 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00544.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0019others(14): Show | a0001c0001t0003g0082 a0001c0001t0007g0084 a0001c0001t0019g0068 others(14): Show |
17 | 231 | 0.0736 | 8 | c.-28 others(29): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155697522 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01081.hp1 HG02109.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0010a0001c0001t0042a0001c0001t0053others(6): Show | a0001c0001t0010g0001 a0001c0001t0042g0070 a0001c0001t0053g0053 others(6): Show |
9 | 231 | 0.0390 | 8 | c.-28 others(29): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155697522 | C | CACACATA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00673.hp1 others(59): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0013 a0001c0001t0001g0039 a0001c0001t0001g0044 others(59): Show |
62 | 231 | 0.2684 | 8 | c.-28 others(29): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155697522 | C | CACATATA others(1): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0021a0001c0001t0077a0001c0002t0121 | a0001c0001t0021g0059 a0001c0001t0021g0060 a0001c0001t0077g0078 others(1): Show |
4 | 231 | 0.0173 | 8 | c.-28 others(29): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155716981 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03195.hp1 HG03654.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0081a0001c0001t0082others(1): Show | a0001c0001t0019g0208 a0001c0001t0081g0108 a0001c0001t0082g0122 others(1): Show |
4 | 231 | 0.0173 | 8 | c.-28 others(29): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155773307 | G | GATATATA others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02148.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0017a0001c0001t0050others(1): Show | a0001c0001t0002g0004 a0001c0001t0002g0216 a0001c0001t0017g0171 others(2): Show |
5 | 231 | 0.0217 | 8 | c.-10 others(25): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SPRY3_chrX_155607586_155787459 | 155773307 | G | GTTATATA others(1): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01943.hp1 NA18961.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0062a0001c0001t0112others(3): Show | a0001c0001t0030g0027 a0001c0001t0062g0201 a0001c0001t0112g0213 others(3): Show |
6 | 231 | 0.0260 | 8 | c.-10 others(25): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 2/2 | chrX | TogoVar | |||||||
SPRY3_chrX_155607586_155787459 | 155786789 | T | TTTTATTT others(1): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0002 | a0001c0002t0138 | a0001c0002t0138g0017 | 1 | 231 | 0.0043 | 8 | c.*12 others(21): Show |
SPRY3 | ENSG00000168939.13 | transcript | ENST00000695325.1 | protein_coding | 4331 | chrX | TogoVar | |||||||
SPRY4_chr5_142305430_142330021 | 142311935 | G | GGTGTGTG others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01074.hp1 HG01123.hp1 HG01358.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0026a0001c0001t0038others(2): Show | a0001c0001t0016g0010 a0001c0001t0026g0169 a0001c0001t0026g0186 others(5): Show |
12 | 378 | 0.0318 | 8 | c.*22 others(19): Show |
SPRY4 | ENSG00000187678.10 | transcript | ENST00000434127.3 | protein_coding | 2/2 | 2273 | chr5 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141082618 | G | GCTATCTA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(13): Show | a0001c0001t0002g0002 a0001c0001t0002g0014 a0001c0001t0002g0036 others(25): Show |
31 | 254 | 0.1221 | 8 | c.694 others(27): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141082618 | G | GCTATGTA others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01175.hp1 HG03195.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0063a0001c0002t0001a0001c0002t0005others(2): Show | a0001c0001t0063g0067 a0001c0002t0001g0065 a0001c0002t0001g0086 others(3): Show |
6 | 254 | 0.0236 | 8 | c.694 others(27): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPSB4_chr3_141046347_141153611 | 141112644 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00558.hp2 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(9): Show | a0001c0001t0002g0218 a0001c0001t0004g0192 a0001c0001t0006g0008 others(13): Show |
18 | 254 | 0.0709 | 8 | c.695 others(27): Show |
SPSB4 | ENSG00000175093.5 | transcript | ENST00000310546.3 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SPTA1_chr1_158605704_158691715 | 158611131 | G | GCACACAC others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG00741.hp1 others(12): Show |
a0003a0008a0013others(2): Show | a0003c0003a0003c0005a0003c0024others(5): Show | a0003c0003t0022a0003c0003t0025a0003c0003t0036others(8): Show | a0003c0003t0022g0021 a0003c0003t0025g0267 a0003c0003t0036g0186 others(12): Show |
15 | 370 | 0.0405 | 8 | c.*12 others(17): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 52/52 | 132 | chr1 | TogoVar | ||||||
SPTA1_chr1_158605704_158691715 | 158629187 | C | CTCTATCT others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01109.hp2 HG02083.hp1 others(13): Show |
a0001a0002a0033others(6): Show | a0001c0001a0002c0002a0033c0076others(6): Show | a0001c0001t0004a0002c0002t0001a0002c0002t0032others(7): Show | a0001c0001t0004g0037 a0002c0002t0001g0010 a0002c0002t0001g0012 others(11): Show |
16 | 370 | 0.0432 | 8 | c.556 others(27): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 39/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158659595 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01167.hp1 HG01169.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0130 a0001c0001t0004g0007 a0001c0001t0004g0142 others(4): Show |
8 | 370 | 0.0216 | 8 | c.258 others(27): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 18/51 | chr1 | TogoVar | |||||||
SPTA1_chr1_158605704_158691715 | 158686557 | C | CAGAGAGA others(1): Show |
5_prime_UTR_variant | MODIFIER | HG01261.hp1 HG02738.hp1 HG03669.hp2 |
a0002 | a0002c0002 | a0002c0002t0032a0002c0002t0052 | a0002c0002t0032g0177 a0002c0002t0032g0179 a0002c0002t0052g0178 |
3 | 370 | 0.0081 | 8 | c.-48 others(15): Show |
SPTA1 | ENSG00000163554.15 | transcript | ENST00000643759.2 | protein_coding | 1/52 | 41 | chr1 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128606374 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00621.hp2 others(80): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(10): Show | a0001c0001t0001g0005 a0001c0001t0001g0034 a0001c0001t0001g0035 others(80): Show |
83 | 312 | 0.2660 | 8 | c.404 others(25): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 31/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTAN1_chr9_128547587_128638662 | 128622737 | G | GTTTATTT others(1): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01109.hp2 HG01167.hp2 others(7): Show |
a0001 | a0001c0002a0001c0006a0001c0017 | a0001c0002t0001a0001c0006t0001a0001c0017t0006 | a0001c0002t0001g0242 a0001c0006t0001g0292 a0001c0006t0001g0293 others(7): Show |
10 | 312 | 0.0321 | 8 | c.583 others(27): Show |
SPTAN1 | ENSG00000197694.19 | transcript | ENST00000372739.7 | protein_coding | 45/56 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54465637 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01257.hp1 others(9): Show |
a0001a0002a0014 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0018a0001c0002t0001a0001c0002t0006others(7): Show | a0001c0001t0018g0303 a0001c0002t0001g0337 a0001c0002t0006g0278 others(9): Show |
12 | 370 | 0.0324 | 8 | c.-48 others(25): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | chr2 | TogoVar | |||||||
SPTBN1_chr2_54451327_54676446 | 54465639 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02451.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0050a0001c0002t0006a0001c0005t0008others(2): Show | a0001c0001t0050g0242 a0001c0002t0006g0149 a0001c0005t0008g0176 others(5): Show |
8 | 370 | 0.0216 | 8 | c.-48 others(25): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54472022 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01123.hp1 others(21): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0004others(7): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0006others(13): Show | a0001c0002t0001g0359 a0001c0002t0004g0101 a0001c0002t0006g0159 others(21): Show |
24 | 370 | 0.0649 | 8 | c.-48 others(27): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54506123 | C | CTAAATAA others(1): Show |
intron_variant | MODIFIER | HG01255.hp2 HG02273.hp1 HG02897.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0013 | a0001c0001t0002a0001c0001t0003a0001c0003t0003others(2): Show | a0001c0001t0002g0030 a0001c0001t0002g0207 a0001c0001t0003g0223 others(3): Show |
6 | 370 | 0.0162 | 8 | c.-47 others(27): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54506894 | C | CTCTTTTT others(1): Show |
intron_variant | MODIFIER | HG01943.hp2 HG02683.hp1 HG03041.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0006others(2): Show | a0001c0001t0002g0084 a0001c0001t0002g0085 a0001c0001t0002g0120 others(7): Show |
10 | 370 | 0.0270 | 8 | c.-47 others(27): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54522652 | G | GAGAGAGA others(1): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02615.hp1 HG03139.hp1 |
a0001 | a0001c0007a0001c0008 | a0001c0007t0013a0001c0008t0005 | a0001c0007t0013g0043 a0001c0007t0013g0044 a0001c0008t0005g0045 |
3 | 370 | 0.0081 | 8 | c.-47 others(25): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54522678 | G | GAGAGGAG others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG03688.hp1 HG03942.hp2 |
a0001a0007 | a0001c0008a0001c0015a0007c0024 | a0001c0008t0005a0001c0015t0005a0007c0024t0051 | a0001c0008t0005g0306 a0001c0015t0005g0099 a0007c0024t0051g0078 |
3 | 370 | 0.0081 | 8 | c.-47 others(25): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 1/35 | chr2 | TogoVar | |||||||
SPTBN1_chr2_54451327_54676446 | 54530353 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01255.hp2 HG02055.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0003a0001c0001t0018a0001c0002t0001others(3): Show | a0001c0001t0003g0059 a0001c0001t0003g0060 a0001c0001t0003g0061 others(8): Show |
11 | 370 | 0.0297 | 8 | c.148 others(25): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54533349 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG03130.hp2 NA19064.hp2 |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0005a0001c0004t0004a0001c0005t0034 | a0001c0001t0005g0136 a0001c0004t0004g0358 a0001c0005t0034g0003 |
3 | 370 | 0.0081 | 8 | c.148 others(25): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54562696 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(30): Show |
a0001a0003a0013others(1): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0002a0001c0001t0007a0001c0001t0014others(20): Show | a0001c0001t0002g0167 a0001c0001t0007g0196 a0001c0001t0007g0270 others(30): Show |
33 | 370 | 0.0892 | 8 | c.148 others(27): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54576055 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(67): Show |
a0001a0004a0009others(1): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0029a0001c0002t0001others(13): Show | a0001c0001t0001g0087 a0001c0001t0001g0156 a0001c0001t0029g0100 others(67): Show |
70 | 370 | 0.1892 | 8 | c.149 others(27): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54593823 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01123.hp1 HG01257.hp1 others(12): Show |
a0001a0009 | a0001c0002a0009c0032 | a0001c0002t0001a0001c0002t0006a0001c0002t0048others(1): Show | a0001c0002t0001g0010 a0001c0002t0001g0028 a0001c0002t0001g0115 others(12): Show |
15 | 370 | 0.0405 | 8 | c.149 others(25): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54594833 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01346.hp2 HG02055.hp1 others(18): Show |
a0001a0011 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0018a0001c0003t0009a0001c0003t0033others(9): Show | a0001c0001t0018g0180 a0001c0003t0009g0233 a0001c0003t0009g0234 others(18): Show |
21 | 370 | 0.0568 | 8 | c.149 others(25): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54594851 | T | TTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02630.hp1 others(8): Show |
a0001 | a0001c0005a0001c0019 | a0001c0005t0003a0001c0005t0012a0001c0005t0025others(3): Show | a0001c0005t0003g0004 a0001c0005t0003g0005 a0001c0005t0003g0181 others(8): Show |
11 | 370 | 0.0297 | 8 | c.149 others(25): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 2/35 | chr2 | TogoVar | |||||||
SPTBN1_chr2_54451327_54676446 | 54633433 | G | GTGTCTGT others(1): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02055.hp1 HG02055.hp2 others(13): Show |
a0001 | a0001c0001a0001c0005a0001c0008others(1): Show | a0001c0001t0018a0001c0005t0031a0001c0008t0005others(2): Show | a0001c0001t0018g0180 a0001c0001t0018g0303 a0001c0005t0031g0187 others(13): Show |
16 | 370 | 0.0432 | 8 | c.376 others(25): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 17/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN1_chr2_54451327_54676446 | 54652877 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02717.hp2 HG02886.hp2 others(8): Show |
a0001a0006 | a0001c0005a0006c0035 | a0001c0005t0003a0001c0005t0008a0001c0005t0031others(2): Show | a0001c0005t0003g0190 a0001c0005t0003g0191 a0001c0005t0008g0048 others(8): Show |
11 | 370 | 0.0297 | 8 | c.557 others(25): Show |
SPTBN1 | ENSG00000115306.17 | transcript | ENST00000356805.9 | protein_coding | 26/35 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40479675 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG01175.hp1 others(8): Show |
a0001a0002a0011others(2): Show | a0001c0001a0001c0002a0001c0012others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0161 others(8): Show |
11 | 234 | 0.0470 | 8 | c.169 others(25): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40489228 | A | AAAAGAAA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01071.hp1 others(26): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0010others(15): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(15): Show | a0001c0001t0001g0092 a0001c0001t0001g0180 a0001c0001t0001g0184 others(26): Show |
29 | 234 | 0.1239 | 8 | c.322 others(23): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 3/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40498373 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02630.hp1 HG02895.hp1 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0010others(5): Show | a0001c0001t0001a0001c0008t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0114 a0001c0001t0001g0203 a0001c0008t0001g0046 others(9): Show |
12 | 234 | 0.0513 | 8 | c.784 others(23): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 7/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40505700 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG01257.hp2 others(20): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0008others(12): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(13): Show | a0001c0001t0001g0107 a0001c0002t0001g0076 a0001c0002t0001g0228 others(20): Show |
23 | 234 | 0.0983 | 8 | c.166 others(25): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 12/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40567298 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02630.hp1 HG02723.hp2 |
a0010a0020a0022 | a0010c0048a0020c0053a0022c0052 | a0010c0048t0001a0020c0053t0001a0022c0052t0001 | a0010c0048t0001g0209 a0020c0053t0001g0220 a0022c0052t0001g0023 |
3 | 234 | 0.0128 | 8 | c.633 others(25): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 30/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTBN4_chr19_40462001_40581464 | 40569936 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01070.hp1 others(17): Show |
a0002a0003a0004others(7): Show | a0002c0004a0002c0015a0002c0046others(11): Show | a0002c0004t0001a0002c0015t0001a0002c0046t0001others(12): Show | a0002c0004t0001g0095 a0002c0004t0001g0096 a0002c0004t0001g0224 others(17): Show |
20 | 234 | 0.0855 | 8 | c.702 others(25): Show |
SPTBN4 | ENSG00000160460.17 | transcript | ENST00000598249.6 | protein_coding | 32/35 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SPTB_chr14_64741283_64884907 | 64882470 | C | CAAAAAAA others(1): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG01884.hp1 HG02698.hp2 others(9): Show |
a0001a0002a0013 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(5): Show | a0001c0001t0001g0062 a0001c0001t0001g0065 a0001c0001t0001g0135 others(9): Show |
12 | 268 | 0.0448 | 8 | c.-27 others(19): Show |
SPTB | ENSG00000070182.21 | transcript | ENST00000644917.1 | protein_coding | 2564 | chr14 | TogoVar | |||||||
SPTLC1_chr9_92026147_92120413 | 92050811 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(50): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0006 others(44): Show |
53 | 358 | 0.1480 | 8 | c.781 others(23): Show |
SPTLC1 | ENSG00000090054.16 | transcript | ENST00000262554.7 | protein_coding | 8/14 | chr9 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77534216 | A | ACACACAC others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02602.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0071 a0001c0001t0005g0181 a0001c0001t0005g0182 |
3 | 246 | 0.0122 | 8 | c.130 others(29): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77551342 | G | GATCACAC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(86): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0019 others(85): Show |
89 | 246 | 0.3618 | 8 | c.130 others(25): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 9/11 | chr14 | TogoVar | |||||||
SPTLC2_chr14_77500997_77621637 | 77583199 | C | CAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(53): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0009 a0001c0001t0001g0023 a0001c0001t0001g0040 others(53): Show |
56 | 246 | 0.2276 | 8 | c.328 others(25): Show |
SPTLC2 | ENSG00000100596.8 | transcript | ENST00000216484.7 | protein_coding | 2/11 | chr14 | TogoVar |