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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ALOX5AP_chr13_30730543_30769426 | 30756813 | CAAA | C | intron_variant | MODIFIER | HG00733.hp2 HG01192.hp1 HG02155.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 a0001c0001t0001g0050 a0001c0001t0001g0064 others(4): Show |
9 | 160 | 0.0563 | -3 | c.323 others(18): Show |
ALOX5AP | ENSG00000132965.10 | transcript | ENST00000380490.5 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ALOX5_chr10_45369216_45451117 | 45371295 | CAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(60): Show |
a0001 | a0001c0002a0001c0008a0001c0011others(2): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0007others(4): Show | a0001c0002t0002g0004 a0001c0002t0002g0026 a0001c0002t0002g0027 others(55): Show |
63 | 157 | 0.4013 | -3 | c.-29 others(14): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 2920 | chr10 | TogoVar | |||||||
ALOX5_chr10_45369216_45451117 | 45400869 | TATA | T | intron_variant | MODIFIER | HG01192.hp1 HG01243.hp2 HG03098.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0005 | a0001c0001t0001a0001c0004t0001a0002c0005t0003 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0004t0001g0038 others(3): Show |
6 | 344 | 0.0174 | -3 | c.431 others(20): Show |
ALOX5 | ENSG00000012779.12 | transcript | ENST00000374391.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8097745 | ATCT | A | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02630.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005 | a0001c0001t0002g0052 a0001c0001t0002g0053 a0001c0001t0002g0054 others(8): Show |
12 | 418 | 0.0287 | -3 | c.195 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 15/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107826 | AAAG | A | intron_variant | MODIFIER | HG02257.hp1 HG02630.hp1 HG02698.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0016others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(2): Show | a0001c0001t0002g0124 a0001c0001t0005g0020 a0001c0001t0005g0021 others(3): Show |
7 | 416 | 0.0168 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107865 | GAAA | G | intron_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01109.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0189 a0001c0002t0001g0205 a0001c0002t0001g0206 |
3 | 418 | 0.0072 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107873 | GAAA | G | intron_variant | MODIFIER | HG01433.hp2 HG02074.hp2 HG02145.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0001 | a0001c0001t0002g0157 a0001c0001t0004g0387 a0001c0002t0001g0062 others(1): Show |
4 | 420 | 0.0095 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107877 | GAAA | G | intron_variant | MODIFIER | HG01074.hp2 HG01168.hp1 HG01169.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0025 a0001c0002t0003g0381 a0001c0002t0003g0382 |
4 | 418 | 0.0096 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107881 | GAAA | G | intron_variant | MODIFIER | HG01358.hp1 HG01433.hp1 HG02145.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0254 a0001c0001t0002g0180 a0001c0001t0002g0338 others(3): Show |
6 | 420 | 0.0143 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107885 | GAAA | G | intron_variant | MODIFIER | HG00280.hp2 HG01070.hp2 HG02523.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0103 a0001c0001t0002g0155 a0001c0001t0002g0264 others(3): Show |
6 | 420 | 0.0143 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107889 | GAAA | G | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG01175.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0001 | a0001c0001t0002g0101 a0001c0001t0002g0178 a0001c0001t0002g0286 others(6): Show |
9 | 418 | 0.0215 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107893 | GAAA | G | intron_variant | MODIFIER | HG00544.hp1 HG02071.hp2 HG02723.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0156 a0001c0001t0002g0281 a0001c0001t0002g0335 others(2): Show |
5 | 420 | 0.0119 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107897 | GAAA | G | intron_variant | MODIFIER | HG00733.hp1 HG02572.hp2 HG02895.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(2): Show | a0001c0001t0002g0287 a0001c0001t0004g0358 a0001c0001t0005g0262 others(2): Show |
6 | 420 | 0.0143 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107910 | AAAG | A | intron_variant | MODIFIER | HG01934.hp2 HG01975.hp2 HG02004.hp1 |
a0001a0003 | a0001c0001a0001c0002a0003c0005 | a0001c0001t0002a0001c0002t0001a0003c0005t0001 | a0001c0001t0002g0194 a0001c0002t0001g0193 a0003c0005t0001g0197 |
3 | 414 | 0.0072 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107913 | GAAA | G | intron_variant | MODIFIER | HG02080.hp2 HG02273.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0001 | a0001c0001t0004g0348 a0001c0002t0001g0060 a0001c0002t0001g0294 |
3 | 419 | 0.0072 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107917 | GAAA | G | intron_variant | MODIFIER | NA18945.hp1 NA18982.hp2 NA19000.hp2 others(1): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0008 | a0001c0001t0002a0001c0002t0001a0008c0008t0001 | a0001c0001t0002g0198 a0001c0001t0002g0291 a0001c0002t0001g0077 others(1): Show |
4 | 418 | 0.0096 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107929 | GAAA | G | intron_variant | MODIFIER | HG02976.hp2 NA18943.hp2 NA19004.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0002t0001 | a0001c0001t0005g0336 a0001c0002t0001g0153 a0001c0002t0001g0210 |
3 | 418 | 0.0072 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALOXE3_chr17_8090900_8123514 | 8107958 | AAAG | A | intron_variant | MODIFIER | HG02040.hp2 NA19012.hp1 NA19082.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0017 | a0001c0002t0001g0092 a0001c0002t0001g0173 a0001c0002t0017g0346 |
3 | 386 | 0.0078 | -3 | c.168 others(20): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | |||||||
ALPG_chr2_232401844_232415714 | 232402941 | CATT | C | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02055.hp1 HG02451.hp2 others(7): Show |
a0003a0009a0011 | a0003c0003a0009c0012a0011c0024 | a0003c0003t0001a0009c0012t0001a0011c0024t0001 | a0003c0003t0001g0002 a0009c0012t0001g0002 a0011c0024t0001g0002 |
10 | 432 | 0.0231 | -3 | c.-39 others(14): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 3902 | chr2 | TogoVar | |||||||
ALPG_chr2_232401844_232415714 | 232406992 | ACAC | A | intron_variant | MODIFIER | HG02258.hp1 HG02895.hp2 HG03453.hp1 others(1): Show |
a0008 | a0008c0010 | a0008c0010t0005 | a0008c0010t0005g0009 | 4 | 432 | 0.0093 | -3 | c.67+ others(14): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ALPG_chr2_232401844_232415714 | 232415183 | GCAC | G | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(47): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0002a0004c0004others(2): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0002others(3): Show | a0001c0001t0001g0001 a0002c0002t0001g0001 a0002c0002t0001g0010 others(6): Show |
50 | 432 | 0.1157 | -3 | c.*53 others(14): Show |
ALPG | ENSG00000163286.9 | transcript | ENST00000295453.8 | protein_coding | 4470 | chr2 | TogoVar | |||||||
ALPK1_chr4_112292369_112447621 | 112309980 | TTTC | T | intron_variant | MODIFIER | HG01109.hp1 HG02486.hp1 HG02647.hp1 others(3): Show |
a0001a0002a0009others(1): Show | a0001c0001a0002c0002a0009c0034others(1): Show | a0001c0001t0001a0002c0002t0002a0009c0034t0002others(1): Show | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0296 others(3): Show |
6 | 304 | 0.0197 | -3 | c.-15 others(22): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112311981 | GTTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00642.hp2 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0023 a0001c0001t0001g0089 a0001c0001t0001g0090 others(34): Show |
38 | 304 | 0.1250 | -3 | c.-15 others(22): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112314876 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00642.hp2 others(28): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0007others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(6): Show | a0001c0001t0001g0023 a0001c0001t0001g0089 a0001c0001t0001g0296 others(27): Show |
31 | 224 | 0.1384 | -3 | c.-15 others(20): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112332085 | ATGG | A | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00558.hp2 others(44): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0075 a0001c0001t0001g0105 a0001c0001t0001g0183 others(44): Show |
47 | 304 | 0.1546 | -3 | c.-10 others(24): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112370849 | CTCT | C | intron_variant | MODIFIER | HG00639.hp1 HG02257.hp1 HG02280.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0015 | a0001c0001t0001a0002c0002t0002a0002c0015t0002 | a0001c0001t0001g0090 a0001c0001t0001g0136 a0002c0002t0002g0255 others(2): Show |
5 | 304 | 0.0164 | -3 | c.-10 others(22): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112382289 | CTTT | C | intron_variant | MODIFIER | HG00609.hp1 HG01071.hp2 HG01099.hp2 others(11): Show |
a0001a0002a0018 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0001others(3): Show | a0001c0001t0001g0077 a0001c0001t0001g0140 a0001c0001t0001g0147 others(11): Show |
14 | 111 | 0.1261 | -3 | c.122 others(16): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112429852 | AAAG | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00544.hp1 others(57): Show |
a0001a0002a0007others(4): Show | a0001c0001a0001c0008a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0011 a0001c0001t0001g0089 a0001c0001t0001g0097 others(57): Show |
60 | 304 | 0.1974 | -3 | c.901 others(18): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112429855 | GAAA | G | intron_variant | MODIFIER | NA18954.hp1 NA18960.hp1 NA18964.hp2 others(2): Show |
a0005a0021 | a0005c0006a0021c0027 | a0005c0006t0006a0021c0027t0003 | a0005c0006t0006g0066 a0005c0006t0006g0102 a0005c0006t0006g0168 others(2): Show |
5 | 292 | 0.0171 | -3 | c.901 others(18): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112432366 | GTTC | G | conservative_inframe_deletion | MODERATE | HG00735.hp1 HG02040.hp2 HG03834.hp2 others(4): Show |
a0004 | a0004c0005 | a0004c0005t0002a0004c0005t0010 | a0004c0005t0002g0129 a0004c0005t0002g0132 a0004c0005t0002g0220 others(4): Show |
7 | 304 | 0.0230 | -3 | c.282 others(12): Show |
p.Ser others(6): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 11/16 | 3077/5399 | 2824/3735 | 942/1244 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
ALPK1_chr4_112292369_112447621 | 112436296 | CTAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(114): Show |
a0001a0003a0006others(8): Show | a0001c0001a0001c0004a0001c0008others(15): Show | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0011 others(112): Show |
117 | 304 | 0.3849 | -3 | c.318 others(22): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ALPK1_chr4_112292369_112447621 | 112442746 | CAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(93): Show |
a0001a0003a0012others(3): Show | a0001c0001a0001c0007a0001c0008others(6): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0017others(10): Show | a0001c0001t0003g0007 a0001c0001t0003g0014 a0001c0001t0003g0015 others(93): Show |
96 | 300 | 0.3200 | -3 | c.*15 others(14): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 126 | chr4 | TogoVar | |||||||
ALPK1_chr4_112292369_112447621 | 112443495 | CAAA | C | downstream_gene_variant | MODIFIER | HG01109.hp1 HG02572.hp1 HG02647.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0011a0003c0014 | a0001c0001t0001a0001c0011t0005a0003c0014t0012 | a0001c0001t0001g0125 a0001c0001t0001g0161 a0001c0001t0001g0296 others(6): Show |
9 | 115 | 0.0783 | -3 | c.*22 others(14): Show |
ALPK1 | ENSG00000073331.18 | transcript | ENST00000650871.1 | protein_coding | 875 | chr4 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58502176 | ACAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00408.hp2 others(41): Show |
a0001a0002a0003others(4): Show | a0001c0002a0002c0001a0003c0004others(7): Show | a0001c0002t0001a0001c0002t0002a0002c0001t0001others(15): Show | a0001c0002t0001g0146 a0001c0002t0001g0166 a0001c0002t0001g0185 others(41): Show |
44 | 318 | 0.1384 | -3 | c.624 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 11/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58528648 | CTGT | C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG00741.hp2 others(9): Show |
a0010a0017a0030others(2): Show | a0010c0011a0010c0063a0017c0026others(3): Show | a0010c0011t0003a0010c0011t0007a0010c0063t0007others(6): Show | a0010c0011t0003g0259 a0010c0011t0007g0082 a0010c0011t0007g0083 others(9): Show |
12 | 318 | 0.0377 | -3 | c.550 others(20): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 6/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58536020 | AAAG | A | disruptive_inframe_deletion | MODERATE | HG00642.hp2 HG00733.hp1 HG00741.hp2 others(9): Show |
a0010a0017a0030others(2): Show | a0010c0011a0010c0063a0017c0026others(3): Show | a0010c0011t0003a0010c0011t0007a0010c0063t0007others(6): Show | a0010c0011t0003g0259 a0010c0011t0007g0082 a0010c0011t0007g0083 others(9): Show |
12 | 318 | 0.0377 | -3 | c.416 others(12): Show |
p.Phe others(7): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 5/13 | 4514/7437 | 4164/6513 | 1388/2170 | chr18 | TogoVar | |||
ALPK2_chr18_58476247_58634091 | 58553850 | GTTT | G | intron_variant | MODIFIER | HG01168.hp2 HG01192.hp2 HG02040.hp2 others(12): Show |
a0001a0002a0003others(6): Show | a0001c0002a0002c0001a0003c0067others(8): Show | a0001c0002t0001a0002c0001t0001a0002c0001t0003others(11): Show | a0001c0002t0001g0246 a0002c0001t0001g0172 a0002c0001t0003g0198 others(12): Show |
15 | 133 | 0.1128 | -3 | c.196 others(24): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58571975 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(108): Show |
a0001a0002a0004others(15): Show | a0001c0002a0001c0014a0001c0023others(31): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(56): Show | a0001c0002t0001g0126 a0001c0002t0001g0146 a0001c0002t0001g0147 others(108): Show |
111 | 140 | 0.7929 | -3 | c.196 others(22): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58583737 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(116): Show |
a0001a0002a0005others(11): Show | a0001c0002a0001c0023a0001c0079others(22): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(41): Show | a0001c0002t0001g0126 a0001c0002t0001g0146 a0001c0002t0001g0147 others(116): Show |
119 | 262 | 0.4542 | -3 | c.228 others(20): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 3/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58611291 | AAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(228): Show |
a0001a0002a0003others(35): Show | a0001c0002a0001c0023a0001c0079others(64): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(111): Show | a0001c0002t0001g0126 a0001c0002t0001g0174 a0001c0002t0001g0178 others(228): Show |
231 | 318 | 0.7264 | -3 | c.109 others(18): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58613698 | CAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00741.hp1 HG02015.hp2 others(5): Show |
a0001a0002a0004others(3): Show | a0001c0002a0002c0001a0004c0003others(3): Show | a0001c0002t0003a0002c0001t0001a0002c0001t0002others(5): Show | a0001c0002t0003g0148 a0002c0001t0001g0192 a0002c0001t0002g0056 others(5): Show |
8 | 315 | 0.0254 | -3 | c.-20 others(20): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58613708 | AAAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00408.hp1 others(191): Show |
a0001a0002a0003others(26): Show | a0001c0002a0001c0014a0001c0023others(53): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(92): Show | a0001c0002t0001g0146 a0001c0002t0001g0147 a0001c0002t0001g0166 others(191): Show |
194 | 287 | 0.6760 | -3 | c.-20 others(20): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
ALPK2_chr18_58476247_58634091 | 58621592 | AAAG | A | intron_variant | MODIFIER | HG01069.hp1 HG01106.hp1 HG01167.hp1 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0014a0002c0006a0003c0004others(3): Show | a0001c0014t0020a0002c0006t0002a0002c0006t0009others(5): Show | a0001c0014t0020g0089 a0002c0006t0002g0044 a0002c0006t0002g0047 others(9): Show |
12 | 318 | 0.0377 | -3 | c.-21 others(20): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
ALPK3_chr15_84812356_84878479 | 84850011 | AAAG | A | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(48): Show |
a0003a0004a0006others(5): Show | a0003c0005a0003c0050a0004c0007others(7): Show | a0003c0005t0003a0003c0050t0003a0004c0007t0003others(9): Show | a0003c0005t0003g0002 a0003c0005t0003g0016 a0003c0005t0003g0017 others(37): Show |
51 | 338 | 0.1509 | -3 | c.165 others(22): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21523999 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(206): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0107 others(205): Show |
209 | 244 | 0.8566 | -3 | c.-10 others(24): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21533935 | AAAG | A | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01074.hp2 others(35): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0107 a0001c0001t0002g0198 a0001c0001t0002g0360 others(35): Show |
38 | 273 | 0.1392 | -3 | c.-10 others(24): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21536891 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(94): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0053 a0001c0001t0001g0054 a0001c0001t0001g0107 others(93): Show |
97 | 143 | 0.6783 | -3 | c.-10 others(24): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21561666 | CTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(186): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0012others(8): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0002g0178 a0001c0001t0002g0179 a0001c0001t0002g0183 others(185): Show |
189 | 218 | 0.8670 | -3 | c.297 others(18): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21563771 | TTGA | T | intron_variant | MODIFIER | HG01074.hp2 HG01255.hp2 HG02055.hp1 others(14): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0005a0001c0003t0019 | a0001c0003t0002g0071 a0001c0003t0005g0072 a0001c0003t0005g0082 others(14): Show |
17 | 368 | 0.0462 | -3 | c.473 others(18): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21573446 | AAAG | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(118): Show |
a0002a0004a0008others(2): Show | a0002c0002a0002c0013a0002c0014others(5): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(11): Show | a0002c0002t0001g0005 a0002c0002t0001g0006 a0002c0002t0001g0007 others(118): Show |
121 | 368 | 0.3288 | -3 | c.863 others(18): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |