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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AKR1D1_chr7_138071459_138123305 | 138101149 | TTCCCTCC others(1): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp1 HG01891.hp1 others(15): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(3): Show | a0001c0001t0001g0093 a0001c0001t0001g0094 a0001c0001t0001g0097 others(15): Show |
18 | 426 | 0.0423 | -8 | c.456 others(25): Show |
AKR1D1 | ENSG00000122787.15 | transcript | ENST00000242375.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AKR1E2_chr10_4821207_4853062 | 4826287 | TGCGGGGC others(1): Show |
T | 5_prime_UTR_variant | MODIFIER | HG02559.hp2 HG02622.hp1 HG02886.hp1 others(1): Show |
a0005 | a0005c0005 | a0005c0005t0006 | a0005c0005t0006g0022 a0005c0005t0006g0109 |
4 | 358 | 0.0112 | -8 | c.-19 others(15): Show |
AKR1E2 | ENSG00000165568.18 | transcript | ENST00000298375.12 | protein_coding | 1/10 | 12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AKR1E2_chr10_4821207_4853062 | 4827075 | GAAAAAAA others(1): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0040 a0001c0001t0002g0014 a0001c0001t0002g0141 others(2): Show |
10 | 358 | 0.0279 | -8 | c.39+ others(21): Show |
AKR1E2 | ENSG00000165568.18 | transcript | ENST00000298375.12 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AKR7A2_chr1_19298965_19317144 | 19316353 | TTGTGTGT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00597.hp2 others(29): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0011 others(19): Show |
32 | 460 | 0.0696 | -8 | c.-42 others(19): Show |
AKR7A2 | ENSG00000053371.13 | transcript | ENST00000235835.8 | protein_coding | 4210 | chr1 | TogoVar | |||||||
AKT1S1_chr19_49864039_49882355 | 49879849 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp1 HG01109.hp1 HG01433.hp2 others(30): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0003 | a0001c0001t0001g0019 a0001c0001t0001g0024 a0001c0001t0001g0047 others(6): Show |
33 | 420 | 0.0786 | -8 | c.-26 others(19): Show |
AKT1S1 | ENSG00000204673.11 | transcript | ENST00000344175.10 | protein_coding | 2495 | chr19 | TogoVar | |||||||
AKT2_chr19_40225317_40290345 | 40276345 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp2 HG00735.hp2 others(32): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0322 a0001c0001t0002g0002 a0001c0001t0002g0015 others(31): Show |
35 | 360 | 0.0972 | -8 | c.-85 others(25): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 1/13 | chr19 | TogoVar | |||||||
AKT2_chr19_40225317_40290345 | 40290248 | AAAATAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00733.hp1 HG01074.hp2 HG01255.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0023others(2): Show | a0001c0001t0003g0007 a0001c0001t0003g0008 a0001c0001t0003g0009 others(39): Show |
45 | 360 | 0.1250 | -8 | c.-51 others(19): Show |
AKT2 | ENSG00000105221.18 | transcript | ENST00000392038.7 | protein_coding | 4904 | chr19 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243508655 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(102): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(7): Show | a0001c0001t0001g0039 a0001c0001t0001g0045 a0001c0001t0001g0046 others(102): Show |
105 | 301 | 0.3488 | -8 | c.135 others(27): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 13/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243523260 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01981.hp1 HG02145.hp2 HG02486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0205 a0001c0001t0003g0276 a0001c0001t0003g0277 others(1): Show |
4 | 301 | 0.0133 | -8 | c.125 others(29): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243525768 | TAAGAAAG others(1): Show |
T | intron_variant | MODIFIER | HG02572.hp2 HG02738.hp2 HG02886.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0020a0001c0001t0029 | a0001c0001t0001g0047 a0001c0001t0020g0286 a0001c0001t0020g0293 others(1): Show |
4 | 301 | 0.0133 | -8 | c.125 others(29): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243526778 | TTAAAAAA others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG01070.hp2 HG01071.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0054 a0001c0001t0001g0134 a0001c0001t0001g0135 others(13): Show |
16 | 301 | 0.0532 | -8 | c.125 others(29): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243527870 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02572.hp1 HG03688.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0017 | a0001c0001t0001g0090 a0001c0001t0001g0108 a0001c0001t0004g0006 others(1): Show |
4 | 301 | 0.0133 | -8 | c.125 others(29): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243527930 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00738.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0045 a0001c0001t0001g0099 a0001c0001t0001g0114 others(17): Show |
20 | 301 | 0.0665 | -8 | c.125 others(29): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243649313 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00423.hp1 others(98): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(98): Show |
101 | 301 | 0.3356 | -8 | c.285 others(25): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 4/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243693242 | TGATATAT others(1): Show |
T | intron_variant | MODIFIER | HG01981.hp1 HG01981.hp2 HG03471.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0003g0032 a0001c0001t0003g0033 a0001c0001t0003g0279 others(8): Show |
11 | 301 | 0.0365 | -8 | c.172 others(25): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243693243 | GATATATA others(1): Show |
G | intron_variant | MODIFIER | HG02723.hp1 HG02895.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0094 a0001c0001t0001g0098 a0001c0001t0001g0206 others(1): Show |
4 | 301 | 0.0133 | -8 | c.172 others(25): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243699465 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG02040.hp2 HG02257.hp2 HG02559.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0039 a0001c0001t0001g0137 a0001c0001t0002g0170 others(5): Show |
8 | 301 | 0.0266 | -8 | c.47- others(23): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243769006 | TCCCTCAT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp1 others(90): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0140 a0001c0001t0001g0141 a0001c0001t0001g0142 others(90): Show |
93 | 301 | 0.3090 | -8 | c.47- others(25): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | |||||||
AKT3_chr1_243494724_243855243 | 243803645 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG01123.hp2 HG01346.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0232 a0001c0001t0003g0275 a0001c0001t0003g0279 others(10): Show |
13 | 301 | 0.0432 | -8 | c.46+ others(25): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | |||||||
ALAD_chr9_113381312_113406284 | 113383517 | TTTTCTTT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG02165.hp2 NA18943.hp1 NA18965.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0001a0001c0002t0024others(1): Show | a0001c0001t0001g0150 a0001c0002t0001g0002 a0001c0002t0001g0044 others(2): Show |
5 | 446 | 0.0112 | -8 | c.*47 others(19): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 2794 | chr9 | TogoVar | |||||||
ALAS1_chr3_52193160_52219327 | 52193983 | AAAAGAAA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG00558.hp2 others(72): Show |
a0001a0004a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0006 others(36): Show |
75 | 354 | 0.2119 | -8 | c.-44 others(19): Show |
ALAS1 | ENSG00000023330.15 | transcript | ENST00000484952.6 | protein_coding | 4176 | chr3 | TogoVar | |||||||
ALAS2_chrX_55004055_55035977 | 55015957 | CTCTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG02615.hp2 NA18980.hp2 NA19057.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 a0001c0001t0001g0065 a0001c0001t0001g0072 |
3 | 284 | 0.0106 | -8 | c.100 others(25): Show |
ALAS2 | ENSG00000158578.21 | transcript | ENST00000650242.1 | protein_coding | 7/10 | chrX | TogoVar | |||||||
ALAS2_chrX_55004055_55035977 | 55015959 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG00733.hp1 HG01993.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 a0001c0001t0001g0082 a0001c0001t0001g0087 others(2): Show |
5 | 284 | 0.0176 | -8 | c.100 others(25): Show |
ALAS2 | ENSG00000158578.21 | transcript | ENST00000650242.1 | protein_coding | 7/10 | chrX | TogoVar | |||||||
ALCAM_chr3_105361909_105581900 | 105446610 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02027.hp1 HG02155.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0003a0003c0005 | a0001c0001t0001a0001c0001t0015a0001c0003t0001others(2): Show | a0001c0001t0001g0209 a0001c0001t0001g0225 a0001c0001t0001g0226 others(4): Show |
7 | 378 | 0.0185 | -8 | c.74- others(25): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ALCAM_chr3_105361909_105581900 | 105496330 | GAAAGGAC others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(178): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(21): Show | a0001c0001t0001g0020 a0001c0001t0001g0053 a0001c0001t0001g0056 others(178): Show |
181 | 378 | 0.4788 | -8 | c.74- others(25): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ALDH16A1_chr19_49448225_49476050 | 49457195 | AGTGAGCA others(1): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG02258.hp2 HG02809.hp2 others(4): Show |
a0002 | a0002c0007 | a0002c0007t0003 | a0002c0007t0003g0019 a0002c0007t0003g0020 a0002c0007t0003g0057 others(2): Show |
7 | 342 | 0.0205 | -8 | c.91- others(23): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 1/16 | chr19 | TogoVar | |||||||
ALDH18A1_chr10_95600941_95661711 | 95655681 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG02109.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 a0001c0001t0001g0256 a0001c0001t0001g0257 others(4): Show |
7 | 372 | 0.0188 | -8 | c.-29 others(23): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 1/17 | chr10 | TogoVar | |||||||
ALDH18A1_chr10_95600941_95661711 | 95660957 | TTTTATTT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01175.hp2 HG03490.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0031 a0001c0001t0003g0120 |
3 | 372 | 0.0081 | -8 | c.-43 others(19): Show |
ALDH18A1 | ENSG00000059573.9 | transcript | ENST00000371224.7 | protein_coding | 4247 | chr10 | TogoVar | |||||||
ALDH1A1_chr9_72895671_72958053 | 72908506 | CGAAAGAA others(1): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02809.hp1 HG03195.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0035 others(4): Show |
7 | 306 | 0.0229 | -8 | c.135 others(27): Show |
ALDH1A1 | ENSG00000165092.13 | transcript | ENST00000297785.8 | protein_coding | 11/12 | chr9 | TogoVar | |||||||
ALDH1A1_chr9_72895671_72958053 | 72908544 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG01099.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0017 a0001c0001t0001g0047 a0001c0001t0001g0092 others(10): Show |
13 | 306 | 0.0425 | -8 | c.135 others(27): Show |
ALDH1A1 | ENSG00000165092.13 | transcript | ENST00000297785.8 | protein_coding | 11/12 | chr9 | TogoVar | |||||||
ALDH1A1_chr9_72895671_72958053 | 72908552 | GAAGAAAG others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG02129.hp2 HG02451.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0002t0001 | a0001c0001t0001g0013 a0001c0001t0001g0032 a0001c0001t0001g0134 others(7): Show |
11 | 306 | 0.0360 | -8 | c.135 others(27): Show |
ALDH1A1 | ENSG00000165092.13 | transcript | ENST00000297785.8 | protein_coding | 11/12 | chr9 | TogoVar | |||||||
ALDH1A1_chr9_72895671_72958053 | 72949656 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG02027.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0051 others(12): Show |
15 | 306 | 0.0490 | -8 | c.66+ others(23): Show |
ALDH1A1 | ENSG00000165092.13 | transcript | ENST00000297785.8 | protein_coding | 1/12 | chr9 | TogoVar | |||||||
ALDH1L1_chr3_126098570_126185586 | 126124110 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00733.hp2 others(38): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0007a0002c0002others(5): Show | a0001c0001t0001a0001c0007t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0132 a0001c0001t0001g0148 a0001c0001t0001g0173 others(36): Show |
41 | 338 | 0.1213 | -8 | c.188 others(25): Show |
ALDH1L1 | ENSG00000144908.14 | transcript | ENST00000393434.7 | protein_coding | 16/22 | chr3 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105035833 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00621.hp1 others(68): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0006a0003c0005others(2): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0008others(12): Show | a0001c0001t0003g0013 a0001c0001t0003g0014 a0001c0001t0003g0025 others(68): Show |
71 | 386 | 0.1839 | -8 | c.214 others(27): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105036514 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG01346.hp1 HG01361.hp1 HG03209.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0034 | a0001c0001t0001g0197 a0001c0001t0001g0266 a0001c0001t0001g0298 others(2): Show |
5 | 386 | 0.0130 | -8 | c.214 others(27): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105038271 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG01346.hp1 HG01361.hp1 HG02970.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0025 | a0001c0001t0001g0021 a0001c0001t0001g0266 a0001c0001t0001g0298 others(9): Show |
12 | 386 | 0.0311 | -8 | c.204 others(23): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 17/22 | chr12 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105038279 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01109.hp1 HG01123.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0057 a0001c0001t0001g0077 a0001c0001t0001g0087 others(15): Show |
18 | 386 | 0.0466 | -8 | c.204 others(23): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 17/22 | chr12 | TogoVar | |||||||
ALDH1L2_chr12_105014790_105089458 | 105064114 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00544.hp2 others(47): Show |
a0001a0004a0007others(1): Show | a0001c0001a0001c0002a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0012 a0001c0001t0001g0077 others(46): Show |
50 | 386 | 0.1295 | -8 | c.787 others(25): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 6/22 | chr12 | TogoVar | |||||||
ALDH2_chr12_111761933_111822532 | 111764982 | TTGTGTGT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00738.hp1 HG00738.hp2 HG01109.hp1 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(15): Show | a0001c0001t0002g0001 a0001c0001t0002g0013 a0001c0001t0002g0024 others(40): Show |
47 | 342 | 0.1374 | -8 | c.-20 others(19): Show |
ALDH2 | ENSG00000111275.13 | transcript | ENST00000261733.7 | protein_coding | 1950 | chr12 | TogoVar | |||||||
ALDH3A2_chr17_19643751_19682596 | 19657698 | GACTGAAT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(247): Show |
a0001a0002a0003 | a0001c0001a0002c0006a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(99): Show |
250 | 366 | 0.6831 | -8 | c.681 others(21): Show |
ALDH3A2 | ENSG00000072210.19 | transcript | ENST00000176643.11 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALDH3A2_chr17_19643751_19682596 | 19666778 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(173): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(72): Show |
176 | 366 | 0.4809 | -8 | c.120 others(27): Show |
ALDH3A2 | ENSG00000072210.19 | transcript | ENST00000176643.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ALDH3B1_chr11_68005327_68034276 | 68030111 | CAAAAAAA others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01256.hp1 others(5): Show |
a0001a0002 | a0001c0003a0001c0009a0002c0008 | a0001c0003t0002a0001c0003t0005a0001c0003t0018others(2): Show | a0001c0003t0002g0002 a0001c0003t0002g0112 a0001c0003t0005g0006 others(3): Show |
8 | 374 | 0.0214 | -8 | c.*21 others(19): Show |
ALDH3B1 | ENSG00000006534.17 | transcript | ENST00000342456.11 | protein_coding | 836 | chr11 | TogoVar | |||||||
ALDH3B2_chr11_67657155_67679623 | 67672042 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp2 HG01496.hp1 HG01515.hp2 others(23): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(3): Show | a0001c0001t0001g0007 a0001c0001t0001g0010 a0001c0001t0001g0089 others(14): Show |
26 | 390 | 0.0667 | -8 | c.-24 others(27): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | |||||||
ALDH4A1_chr1_18866430_18907555 | 18866622 | CTTTTTTT others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(195): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(166): Show |
198 | 406 | 0.4877 | -8 | c.*62 others(19): Show |
ALDH4A1 | ENSG00000159423.17 | transcript | ENST00000375341.8 | protein_coding | 4807 | chr1 | TogoVar | |||||||
ALDH5A1_chr6_24489969_24542207 | 24508398 | TCTCTAAT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(227): Show |
a0001a0002a0004others(6): Show | a0001c0001a0001c0009a0001c0016others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0012 a0001c0001t0001g0126 a0001c0001t0001g0134 others(218): Show |
230 | 368 | 0.6250 | -8 | c.726 others(25): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 4/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24526964 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG01123.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0002g0130 a0001c0001t0002g0151 a0001c0001t0002g0155 others(8): Show |
12 | 368 | 0.0326 | -8 | c.117 others(27): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ALDH6A1_chr14_74051847_74089453 | 74087413 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(84): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0009 others(59): Show |
87 | 402 | 0.2164 | -8 | c.-30 others(19): Show |
ALDH6A1 | ENSG00000119711.13 | transcript | ENST00000553458.6 | protein_coding | 2961 | chr14 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126549073 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02622.hp2 HG02630.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0001g0284 a0001c0001t0006g0004 a0001c0001t0007g0110 others(3): Show |
6 | 380 | 0.0158 | -8 | c.148 others(25): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 16/17 | chr5 | TogoVar | |||||||
ALDH7A1_chr5_126536841_126600219 | 126561483 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02056.hp2 others(22): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0143 a0001c0001t0001g0208 a0001c0001t0001g0278 others(22): Show |
25 | 380 | 0.0658 | -8 | c.872 others(23): Show |
ALDH7A1 | ENSG00000164904.18 | transcript | ENST00000409134.8 | protein_coding | 9/17 | chr5 | TogoVar | |||||||
ALG12_chr22_49895229_49923438 | 49902431 | TGTGTGCA others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02040.hp2 HG02055.hp2 HG02257.hp2 others(21): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0008a0002c0013others(2): Show | a0001c0002t0006a0001c0002t0025a0001c0002t0026others(6): Show | a0001c0002t0006g0044 a0001c0002t0006g0045 a0001c0002t0006g0181 others(15): Show |
24 | 348 | 0.0690 | -8 | c.*13 others(19): Show |
ALG12 | ENSG00000182858.14 | transcript | ENST00000330817.11 | protein_coding | 10/10 | 1399 | chr22 | TogoVar |