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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
SIPA1L2_chr1_232392965_232635133 | 232487919 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp2 others(52): Show |
a0001a0002a0003others(6): Show | a0001c0003a0001c0016a0001c0018others(20): Show | a0001c0003t0001a0001c0003t0006a0001c0016t0002others(28): Show | a0001c0003t0001g0137 a0001c0003t0006g0003 a0001c0016t0002g0021 others(52): Show |
55 | 292 | 0.1884 | -8 | c.180 others(27): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 5/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232525401 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG02300.hp1 others(3): Show |
a0001 | a0001c0003a0001c0017 | a0001c0003t0004a0001c0017t0001a0001c0017t0002others(1): Show | a0001c0003t0004g0103 a0001c0003t0004g0135 a0001c0017t0001g0159 others(3): Show |
6 | 292 | 0.0206 | -8 | c.-26 others(27): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232564149 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01168.hp1 HG02559.hp1 HG03540.hp1 others(1): Show |
a0001a0002a0010 | a0001c0001a0002c0006a0010c0022 | a0001c0001t0001a0002c0006t0008a0010c0022t0002 | a0001c0001t0001g0163 a0001c0001t0001g0210 a0002c0006t0008g0267 others(1): Show |
4 | 292 | 0.0137 | -8 | c.-27 others(29): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232572694 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02257.hp1 others(8): Show |
a0001a0002a0008 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0023a0001c0003t0006a0001c0003t0010others(6): Show | a0001c0001t0023g0280 a0001c0003t0006g0011 a0001c0003t0006g0012 others(8): Show |
11 | 292 | 0.0377 | -8 | c.-27 others(27): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L2_chr1_232392965_232635133 | 232572734 | CATACATA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00544.hp1 others(67): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(42): Show | a0001c0001t0001g0094 a0001c0001t0001g0143 a0001c0001t0001g0163 others(67): Show |
70 | 292 | 0.2397 | -8 | c.-27 others(27): Show |
SIPA1L2 | ENSG00000116991.12 | transcript | ENST00000674635.1 | protein_coding | 2/22 | chr1 | TogoVar | |||||||
SIPA1L3_chr19_37902208_38213369 | 37918911 | TAAATAAA others(1): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG01981.hp2 HG02109.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0097 a0001c0001t0001g0107 a0001c0001t0002g0139 others(9): Show |
12 | 164 | 0.0732 | -8 | c.-37 others(29): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 37927654 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG01255.hp2 others(22): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0164 a0001c0001t0002g0055 a0001c0001t0002g0056 others(22): Show |
25 | 164 | 0.1524 | -8 | c.-37 others(29): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 37941079 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02886.hp1 HG03041.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0002a0001c0003t0001a0001c0004t0003others(2): Show | a0001c0001t0002g0159 a0001c0003t0001g0144 a0001c0004t0003g0158 others(4): Show |
7 | 164 | 0.0427 | -8 | c.-37 others(29): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38030644 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG01109.hp2 HG01168.hp1 others(33): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0005a0001c0003t0001a0001c0003t0004others(13): Show | a0001c0001t0005g0115 a0001c0003t0001g0144 a0001c0003t0004g0091 others(33): Show |
36 | 164 | 0.2195 | -8 | c.-31 others(27): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 2/21 | chr19 | TogoVar | |||||||
SIPA1L3_chr19_37902208_38213369 | 38033669 | ACGTATGT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(68): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0003a0001c0004others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(37): Show | a0001c0001t0001g0005 a0001c0001t0001g0009 a0001c0001t0001g0097 others(68): Show |
71 | 164 | 0.4329 | -8 | c.-31 others(27): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 2/21 | chr19 | TogoVar | |||||||
SIPA1L3_chr19_37902208_38213369 | 38057282 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02257.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0005a0003c0012 | a0001c0001t0002a0003c0005t0003a0003c0005t0011others(1): Show | a0001c0001t0002g0039 a0001c0001t0002g0109 a0003c0005t0003g0110 others(4): Show |
7 | 164 | 0.0427 | -8 | c.-31 others(29): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38065834 | CTATTTAT others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01169.hp2 HG01952.hp1 others(10): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0026a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0134 a0001c0001t0002g0139 a0001c0001t0004g0021 others(10): Show |
13 | 164 | 0.0793 | -8 | c.-31 others(29): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38071201 | TTATCTAT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01168.hp2 others(33): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0004others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0097 a0001c0001t0001g0113 a0001c0001t0001g0156 others(33): Show |
36 | 164 | 0.2195 | -8 | c.-31 others(27): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIPA1L3_chr19_37902208_38213369 | 38178086 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01884.hp1 HG02080.hp2 others(5): Show |
a0001a0002a0006others(1): Show | a0001c0003a0002c0002a0006c0010others(1): Show | a0001c0003t0007a0002c0002t0002a0002c0002t0003others(3): Show | a0001c0003t0007g0148 a0002c0002t0002g0051 a0002c0002t0003g0094 others(5): Show |
8 | 164 | 0.0488 | -8 | c.420 others(27): Show |
SIPA1L3 | ENSG00000105738.11 | transcript | ENST00000222345.11 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SIRPA_chr20_1890407_1945592 | 1903030 | AAAGAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp1 HG00558.hp1 others(88): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0005a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0010 others(82): Show |
91 | 418 | 0.2177 | -8 | c.79+ others(23): Show |
SIRPA | ENSG00000198053.12 | transcript | ENST00000358771.5 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SIRPA_chr20_1890407_1945592 | 1923978 | CTGGTTGG others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01123.hp1 HG01243.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0010a0001c0001t0011a0001c0001t0040others(2): Show | a0001c0001t0010g0393 a0001c0001t0011g0081 a0001c0001t0040g0083 others(2): Show |
5 | 418 | 0.0120 | -8 | c.108 others(25): Show |
SIRPA | ENSG00000198053.12 | transcript | ENST00000358771.5 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SIRT1_chr10_67879656_67923390 | 67914059 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(97): Show |
a0001a0005 | a0001c0001a0001c0009a0005c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(74): Show |
100 | 410 | 0.2439 | -8 | c.191 others(27): Show |
SIRT1 | ENSG00000096717.12 | transcript | ENST00000212015.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
SIRT6_chr19_4169109_4187563 | 4180093 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG02083.hp1 NA18955.hp1 NA18960.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0021 a0001c0001t0003g0038 a0001c0001t0003g0092 others(2): Show |
9 | 410 | 0.0220 | -8 | c.194 others(23): Show |
SIRT6 | ENSG00000077463.15 | transcript | ENST00000337491.7 | protein_coding | 2/7 | chr19 | TogoVar | |||||||
SIT1_chr9_35644295_35655931 | 35644936 | TCACGCCT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(108): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0002g0005 others(1): Show |
111 | 434 | 0.2558 | -8 | c.*49 others(19): Show |
SIT1 | ENSG00000137078.10 | transcript | ENST00000259608.8 | protein_coding | 4358 | chr9 | TogoVar | |||||||
SIT1_chr9_35644295_35655931 | 35647667 | TGAGAGAG others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01074.hp1 HG01255.hp2 HG01433.hp2 others(9): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0004a0004c0003t0001 | a0001c0001t0001g0001 a0001c0001t0004g0014 a0004c0003t0001g0011 |
12 | 434 | 0.0277 | -8 | c.*21 others(19): Show |
SIT1 | ENSG00000137078.10 | transcript | ENST00000259608.8 | protein_coding | 1627 | chr9 | TogoVar | |||||||
SIT1_chr9_35644295_35655931 | 35654329 | TCTCTCAC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01175.hp2 HG02055.hp2 NA19043.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 434 | 0.0092 | -8 | c.-34 others(19): Show |
SIT1 | ENSG00000137078.10 | transcript | ENST00000259608.8 | protein_coding | 3399 | chr9 | TogoVar | |||||||
SIT1_chr9_35644295_35655931 | 35654331 | TCTCACAC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01074.hp2 HG02258.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 |
6 | 434 | 0.0138 | -8 | c.-34 others(19): Show |
SIT1 | ENSG00000137078.10 | transcript | ENST00000259608.8 | protein_coding | 3401 | chr9 | TogoVar | |||||||
SIT1_chr9_35644295_35655931 | 35655455 | CATTTATT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00621.hp1 HG01891.hp1 HG02148.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0002g0005 |
10 | 434 | 0.0230 | -8 | c.-46 others(19): Show |
SIT1 | ENSG00000137078.10 | transcript | ENST00000259608.8 | protein_coding | 4525 | chr9 | TogoVar | |||||||
SIX3_chr2_44936702_44951071 | 44950153 | TACACACA others(1): Show |
T | downstream_gene_variant | MODIFIER | HG01358.hp1 HG01496.hp1 HG02698.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0009 | a0001c0001t0001a0001c0001t0005a0001c0005t0033others(1): Show | a0001c0001t0001g0001 a0001c0001t0005g0003 a0001c0005t0033g0008 others(1): Show |
5 | 448 | 0.0112 | -8 | c.*53 others(19): Show |
SIX3 | ENSG00000138083.5 | transcript | ENST00000260653.5 | protein_coding | 4083 | chr2 | TogoVar | |||||||
SIX3_chr2_44936702_44951071 | 44950863 | GCACGCAC others(1): Show |
G | downstream_gene_variant | MODIFIER | HG02647.hp2 HG03098.hp2 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0044a0001c0001t0062a0001c0001t0063 | a0001c0001t0044g0002 a0001c0001t0062g0004 a0001c0001t0063g0004 |
3 | 448 | 0.0067 | -8 | c.*61 others(19): Show |
SIX3 | ENSG00000138083.5 | transcript | ENST00000260653.5 | protein_coding | 4793 | chr2 | TogoVar | |||||||
SIX4_chr14_60704539_60729351 | 60706936 | GGTATAAA others(1): Show |
G | downstream_gene_variant | MODIFIER | NA18953.hp2 NA18963.hp1 NA18998.hp2 |
a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0004 | 3 | 356 | 0.0084 | -8 | c.*64 others(19): Show |
SIX4 | ENSG00000100625.9 | transcript | ENST00000216513.5 | protein_coding | 2602 | chr14 | TogoVar | |||||||
SI_chr3_164973898_165083496 | 164989365 | AAAGAAAG others(1): Show |
A | intron_variant | MODIFIER | HG02723.hp1 HG03130.hp1 NA19240.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0003a0005c0005t0003 | a0001c0001t0003g0101 a0005c0005t0003g0001 |
4 | 266 | 0.0150 | -8 | c.510 others(27): Show |
SI | ENSG00000090402.8 | transcript | ENST00000264382.8 | protein_coding | 44/47 | chr3 | TogoVar | |||||||
SI_chr3_164973898_165083496 | 164989381 | AAAGAAAG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00544.hp2 others(39): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0007a0001c0010others(6): Show | a0001c0001t0001a0001c0007t0001a0001c0010t0001others(6): Show | a0001c0001t0001g0020 a0001c0001t0001g0029 a0001c0001t0001g0030 others(39): Show |
42 | 266 | 0.1579 | -8 | c.510 others(27): Show |
SI | ENSG00000090402.8 | transcript | ENST00000264382.8 | protein_coding | 44/47 | chr3 | TogoVar | |||||||
SI_chr3_164973898_165083496 | 165022535 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01358.hp2 HG02735.hp1 others(5): Show |
a0005 | a0005c0005a0005c0015a0005c0019 | a0005c0005t0001a0005c0015t0001a0005c0019t0003 | a0005c0005t0001g0164 a0005c0005t0001g0165 a0005c0005t0001g0166 others(5): Show |
8 | 266 | 0.0301 | -8 | c.309 others(27): Show |
SI | ENSG00000090402.8 | transcript | ENST00000264382.8 | protein_coding | 26/47 | chr3 | TogoVar | |||||||
SI_chr3_164973898_165083496 | 165065464 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02809.hp2 HG02895.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0004c0004t0004 | a0001c0001t0001g0115 a0001c0001t0001g0137 a0001c0001t0001g0138 others(5): Show |
8 | 266 | 0.0301 | -8 | c.636 others(21): Show |
SI | ENSG00000090402.8 | transcript | ENST00000264382.8 | protein_coding | 6/47 | chr3 | TogoVar | |||||||
SI_chr3_164973898_165083496 | 165073170 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG01346.hp1 HG02965.hp1 NA19030.hp1 others(2): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0003a0003c0009others(2): Show | a0002c0002t0002a0003c0003t0001a0003c0009t0001others(2): Show | a0002c0002t0002g0251 a0003c0003t0001g0182 a0003c0009t0001g0183 others(2): Show |
5 | 266 | 0.0188 | -8 | c.255 others(25): Show |
SI | ENSG00000090402.8 | transcript | ENST00000264382.8 | protein_coding | 3/47 | chr3 | TogoVar | |||||||
SKA1_chr18_50370046_50399168 | 50378674 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG01346.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0019a0002c0002t0003 | a0001c0001t0001g0025 a0001c0001t0001g0124 a0001c0001t0001g0142 others(4): Show |
11 | 387 | 0.0284 | -8 | c.89- others(23): Show |
SKA1 | ENSG00000154839.10 | transcript | ENST00000285116.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
SKA2_chr17_59104857_59160186 | 59121793 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01074.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0022 a0001c0001t0003g0023 a0001c0001t0003g0024 others(12): Show |
15 | 294 | 0.0510 | -8 | c.121 others(25): Show |
SKA2 | ENSG00000182628.13 | transcript | ENST00000330137.12 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
SKA3_chr13_21148595_21181552 | 21172833 | TACCGTAC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00597.hp1 others(82): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0077 a0001c0001t0002g0004 a0001c0001t0002g0007 others(45): Show |
85 | 378 | 0.2249 | -8 | c.104 others(23): Show |
SKA3 | ENSG00000165480.16 | transcript | ENST00000314759.6 | protein_coding | 1/8 | chr13 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48153024 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(146): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0005t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0030 others(146): Show |
149 | 292 | 0.5103 | -8 | c.978 others(25): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 11/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48186454 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00639.hp2 others(72): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0003others(3): Show | a0001c0001t0001g0235 a0002c0002t0001g0019 a0002c0002t0001g0020 others(72): Show |
75 | 292 | 0.2569 | -8 | c.442 others(25): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 6/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48252713 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00558.hp1 others(47): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 others(47): Show |
50 | 292 | 0.1712 | -8 | c.281 others(27): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48252748 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG01069.hp2 HG01358.hp2 others(29): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0198 a0001c0001t0001g0290 a0001c0003t0001g0252 others(29): Show |
32 | 292 | 0.1096 | -8 | c.281 others(27): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48257628 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00642.hp1 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0005a0002c0004a0003c0006others(1): Show | a0001c0005t0001a0001c0005t0002a0002c0004t0001others(2): Show | a0001c0005t0001g0211 a0001c0005t0001g0212 a0001c0005t0001g0214 others(28): Show |
31 | 292 | 0.1062 | -8 | c.281 others(27): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48264745 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02630.hp2 HG02818.hp1 HG02922.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0092 a0001c0001t0001g0094 a0002c0002t0001g0088 others(7): Show |
10 | 292 | 0.0343 | -8 | c.281 others(27): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48265501 | AAAGCAAG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(95): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(1): Show | a0001c0001t0001g0037 a0001c0001t0001g0101 a0001c0001t0001g0102 others(95): Show |
98 | 292 | 0.3356 | -8 | c.281 others(27): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48287098 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG00558.hp1 others(60): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0001a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0001g0039 others(60): Show |
63 | 292 | 0.2158 | -8 | c.280 others(27): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48338033 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00642.hp1 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0005a0002c0004a0003c0006others(1): Show | a0001c0005t0001a0001c0005t0002a0002c0004t0001others(2): Show | a0001c0005t0001g0211 a0001c0005t0001g0212 a0001c0005t0001g0214 others(28): Show |
31 | 292 | 0.1062 | -8 | c.280 others(25): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 4/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48369146 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp1 others(102): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0038 a0001c0001t0001g0039 others(102): Show |
105 | 292 | 0.3596 | -8 | c.153 others(25): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 2/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48405392 | CCTTTCTT others(1): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG02145.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0119 a0001c0001t0001g0120 a0001c0001t0001g0139 others(9): Show |
12 | 292 | 0.0411 | -8 | c.47- others(23): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48405450 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG01069.hp1 others(24): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0042 a0001c0001t0001g0048 others(24): Show |
27 | 292 | 0.0925 | -8 | c.47- others(23): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
SKAP1_chr17_48128442_48435214 | 48411398 | CAAATAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01109.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0002c0002t0001g0006 others(15): Show |
18 | 292 | 0.0616 | -8 | c.47- others(25): Show |
SKAP1 | ENSG00000141293.16 | transcript | ENST00000336915.11 | protein_coding | 1/12 | chr17 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26683535 | TGGAAGGA others(1): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp1 HG01169.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0033 a0001c0001t0002g0034 a0001c0001t0002g0035 others(5): Show |
9 | 296 | 0.0304 | -8 | c.987 others(25): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 11/12 | chr7 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26701750 | TAAATAAA others(1): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG01123.hp1 HG02965.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0015others(1): Show | a0001c0001t0003g0027 a0001c0001t0003g0101 a0001c0001t0003g0102 others(15): Show |
18 | 296 | 0.0608 | -8 | c.797 others(27): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 9/12 | chr7 | TogoVar | |||||||
SKAP2_chr7_26662068_26869590 | 26717509 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG01934.hp1 HG03669.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0074 a0001c0001t0001g0122 others(9): Show |
12 | 296 | 0.0405 | -8 | c.796 others(25): Show |
SKAP2 | ENSG00000005020.13 | transcript | ENST00000345317.7 | protein_coding | 9/12 | chr7 | TogoVar |