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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADK_chr10_74146221_74714290 | 74588344 | ATAAACCA others(2): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02630.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0064 a0001c0001t0001g0066 a0001c0001t0001g0102 others(1): Show |
4 | 198 | 0.0202 | -9 | c.727 others(24): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADM2_chr22_50476543_50491437 | 50488748 | GCCTGTCC others(2): Show |
G | downstream_gene_variant | MODIFIER | HG02647.hp1 HG02809.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0020a0001c0001t0051 | a0001c0001t0004g0001 a0001c0001t0020g0001 a0001c0001t0051g0001 |
5 | 444 | 0.0113 | -9 | c.*58 others(20): Show |
ADM2 | ENSG00000128165.9 | transcript | ENST00000395737.2 | protein_coding | 2312 | chr22 | TogoVar | |||||||
ADORA1_chr1_203122726_203172405 | 203155016 | TTTATTAT others(2): Show |
T | intron_variant | MODIFIER | HG01081.hp1 HG01168.hp2 HG01358.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0005a0001c0001t0015others(2): Show | a0001c0001t0003g0114 a0001c0001t0003g0237 a0001c0001t0005g0118 others(4): Show |
8 | 108 | 0.0741 | -9 | c.342 others(28): Show |
ADORA1 | ENSG00000163485.18 | transcript | ENST00000337894.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADRA1A_chr8_26763809_26872278 | 26865490 | CGCTACAG others(2): Show |
C | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(316): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0010a0001c0011others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0006 a0001c0001t0001g0091 a0001c0001t0001g0095 others(300): Show |
319 | 386 | 0.8264 | -9 | c.-53 others(18): Show |
ADRA1A | ENSG00000120907.18 | transcript | ENST00000380573.4 | protein_coding | 2/3 | 522 | chr8 | TogoVar | ||||||
ADRA1D_chr20_4215630_4254287 | 4223898 | CAACAGGT others(2): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(107): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(10): Show | a0001c0001t0002g0031 a0001c0001t0002g0097 a0001c0001t0002g0109 others(86): Show |
110 | 450 | 0.2444 | -9 | c.111 others(28): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
ADRA1D_chr20_4215630_4254287 | 4231088 | TTTTCTTT others(2): Show |
T | intron_variant | MODIFIER | HG02258.hp2 HG02647.hp2 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0014 a0001c0001t0009g0029 |
5 | 365 | 0.0137 | -9 | c.111 others(28): Show |
ADRA1D | ENSG00000171873.8 | transcript | ENST00000379453.6 | protein_coding | 1/1 | chr20 | TogoVar | |||||||
ADRA2B_chr2_96107876_96121571 | 96115238 | CTCCTCCT others(2): Show |
C | disruptive_inframe_deletion | MODERATE | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(119): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0002a0002c0002t0003a0002c0002t0008others(6): Show | a0002c0002t0002g0000 a0002c0002t0003g0000 a0002c0002t0008g0000 others(6): Show |
122 | 388 | 0.3144 | -9 | c.903 others(16): Show |
p.Glu others(13): Show |
ADRA2B | ENSG00000274286.2 | transcript | ENST00000620793.2 | protein_coding | 1/1 | 1333/3696 | 903/1353 | 301/450 | chr2 | TogoVar | |||
ADSS1_chr14_104719229_104752310 | 104721024 | GCGTCGTC others(2): Show |
G | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02055.hp2 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0011 a0001c0001t0001g0036 others(10): Show |
18 | 400 | 0.0450 | -9 | c.-32 others(20): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 3204 | chr14 | TogoVar | |||||||
ADSS1_chr14_104719229_104752310 | 104736907 | TATATATG others(2): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02258.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 a0001c0001t0001g0036 a0001c0001t0001g0037 others(3): Show |
11 | 399 | 0.0276 | -9 | c.296 others(26): Show |
ADSS1 | ENSG00000185100.12 | transcript | ENST00000330877.7 | protein_coding | 2/12 | chr14 | TogoVar | |||||||
ADSS2_chr1_244403494_244456909 | 244435168 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00558.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006 | a0001c0001t0001g0272 a0001c0001t0001g0278 a0001c0001t0004g0009 others(17): Show |
29 | 119 | 0.2437 | -9 | c.355 others(26): Show |
ADSS2 | ENSG00000035687.10 | transcript | ENST00000366535.4 | protein_coding | 3/12 | chr1 | TogoVar | |||||||
AEBP2_chr12_19434492_19527227 | 19508063 | TGCTTGGT others(2): Show |
T | intron_variant | MODIFIER | NA18944.hp1 NA18960.hp2 NA18973.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0058 a0001c0001t0001g0093 a0001c0001t0001g0107 others(4): Show |
7 | 402 | 0.0174 | -9 | c.130 others(28): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7756191 | GCCACGGC others(2): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00621.hp1 others(57): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0010a0001c0002t0005a0001c0002t0013others(28): Show | a0001c0001t0010g0041 a0001c0001t0010g0059 a0001c0002t0005g0111 others(57): Show |
60 | 316 | 0.1899 | -9 | c.*75 others(20): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 2522 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7795405 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01081.hp1 HG01192.hp2 others(9): Show |
a0001a0006 | a0001c0003a0001c0007a0001c0043others(1): Show | a0001c0003t0002a0001c0003t0005a0001c0003t0056others(3): Show | a0001c0003t0002g0008 a0001c0003t0002g0033 a0001c0003t0002g0173 others(9): Show |
12 | 31 | 0.3871 | -9 | c.126 others(28): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 10/17 | chr4 | TogoVar | |||||||
AFF1_chr4_86930011_87146039 | 86949534 | ATTATTTT others(2): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02055.hp1 others(22): Show |
a0001a0018 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0016others(9): Show | a0001c0001t0003g0192 a0001c0001t0011g0096 a0001c0001t0011g0265 others(22): Show |
25 | 287 | 0.0871 | -9 | c.38+ others(22): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AFF1_chr4_86930011_87146039 | 86974477 | CTTAAACT others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02258.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0003a0001c0002t0005a0001c0002t0043others(2): Show | a0001c0001t0003g0192 a0001c0002t0005g0185 a0001c0002t0005g0193 others(9): Show |
12 | 292 | 0.0411 | -9 | c.38+ others(26): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AFF1_chr4_86930011_87146039 | 87001207 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02258.hp1 others(12): Show |
a0001a0002a0018 | a0001c0001a0001c0002a0002c0008others(1): Show | a0001c0001t0003a0001c0002t0005a0001c0002t0043others(4): Show | a0001c0001t0003g0192 a0001c0002t0005g0185 a0001c0002t0005g0193 others(12): Show |
15 | 49 | 0.3061 | -9 | c.39- others(26): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AFF1_chr4_86930011_87146039 | 87073280 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG02257.hp1 HG02486.hp2 HG02572.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0003a0001c0001t0011a0001c0001t0017others(5): Show | a0001c0001t0003g0192 a0001c0001t0011g0266 a0001c0001t0017g0097 others(5): Show |
8 | 22 | 0.3636 | -9 | c.106 others(30): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148500637 | TGCCGCCG others(2): Show |
T | 5_prime_UTR_variant | MODIFIER | HG04115.hp1 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0090 a0001c0001t0014g0061 |
2 | 45 | 0.0444 | -9 | c.-42 others(18): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 1/21 | 414 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AFF2_chrX_148495617_149005663 | 148849366 | TCCCCCCC others(2): Show |
T | intron_variant | MODIFIER | HG00639.hp1 HG01243.hp1 HG01934.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0010a0001c0001t0012others(8): Show | a0001c0001t0005g0117 a0001c0001t0005g0118 a0001c0001t0010g0057 others(10): Show |
13 | 29 | 0.4483 | -9 | c.126 others(28): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
AFF3_chr2_99540419_100147590 | 99866994 | TAATAATA others(2): Show |
T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02647.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0030others(3): Show | a0001c0001t0004g0082 a0001c0001t0005g0075 a0001c0001t0030g0077 others(3): Show |
6 | 97 | 0.0619 | -9 | c.874 others(28): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 7/24 | chr2 | TogoVar | |||||||
AFF3_chr2_99540419_100147590 | 99896620 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01261.hp1 HG02055.hp1 HG02559.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0007others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0030others(6): Show | a0001c0001t0001g0080 a0001c0001t0005g0075 a0001c0001t0030g0077 others(6): Show |
9 | 20 | 0.4500 | -9 | c.874 others(28): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 7/24 | chr2 | TogoVar | |||||||
AFF3_chr2_99540419_100147590 | 99986201 | AAATAATA others(2): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02895.hp1 HG02976.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002others(1): Show | a0001c0001t0007a0001c0008t0005a0002c0002t0018others(1): Show | a0001c0001t0007g0078 a0001c0008t0005g0079 a0002c0002t0018g0013 others(1): Show |
4 | 32 | 0.1250 | -9 | c.873 others(28): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 7/24 | chr2 | TogoVar | |||||||
AFF3_chr2_99540419_100147590 | 100104798 | AGCCGCCG others(2): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02976.hp2 HG03130.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0025others(3): Show | a0001c0001t0001g0023 a0001c0001t0008g0001 a0001c0001t0025g0053 others(3): Show |
6 | 67 | 0.0896 | -9 | c.-64 others(24): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 3/24 | chr2 | TogoVar | |||||||
AFG3L2_chr18_12323944_12382227 | 12370054 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG01891.hp2 others(13): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0008 | a0001c0003t0002g0077 a0001c0003t0002g0078 a0001c0003t0002g0079 others(13): Show |
16 | 242 | 0.0661 | -9 | c.292 others(24): Show |
AFG3L2 | ENSG00000141385.12 | transcript | ENST00000269143.8 | protein_coding | 3/16 | chr18 | TogoVar | |||||||
AFG3L2_chr18_12323944_12382227 | 12378572 | AATTATTA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02922.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0005 | a0001c0002t0002g0024 a0001c0003t0005g0017 a0001c0003t0005g0018 |
5 | 287 | 0.0174 | -9 | c.-14 others(20): Show |
AFG3L2 | ENSG00000141385.12 | transcript | ENST00000269143.8 | protein_coding | 1346 | chr18 | TogoVar | |||||||
AFMID_chr17_78182362_78212702 | 78198639 | CAAAAAAA others(2): Show |
C | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01884.hp1 others(10): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(5): Show | a0001c0001t0001g0147 a0001c0001t0002g0229 a0001c0001t0002g0345 others(10): Show |
13 | 176 | 0.0739 | -9 | c.155 others(26): Show |
AFMID | ENSG00000183077.16 | transcript | ENST00000409257.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AFP_chr4_73431221_73461174 | 73461120 | TTCTTTCT others(2): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00733.hp2 HG00738.hp2 others(36): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(17): Show |
39 | 388 | 0.1005 | -9 | c.*55 others(20): Show |
AFP | ENSG00000081051.8 | transcript | ENST00000395792.7 | protein_coding | 4947 | chr4 | TogoVar | |||||||
AFP_chr4_73431221_73461174 | 73461132 | CTTTCTTT others(2): Show |
C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp1 others(71): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(28): Show |
74 | 319 | 0.2320 | -9 | c.*55 others(20): Show |
AFP | ENSG00000081051.8 | transcript | ENST00000395792.7 | protein_coding | 4959 | chr4 | TogoVar | |||||||
AFTPH_chr2_64519328_64598005 | 64536566 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(84): Show |
a0002a0005a0006others(1): Show | a0002c0002a0002c0010a0005c0007others(3): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(9): Show | a0002c0002t0001g0004 a0002c0002t0001g0312 a0002c0002t0001g0313 others(82): Show |
87 | 204 | 0.4265 | -9 | c.-33 others(28): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AFTPH_chr2_64519328_64598005 | 64545570 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00738.hp2 HG01069.hp2 others(38): Show |
a0001a0003a0012 | a0001c0001a0003c0003a0012c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0003 a0001c0001t0001g0234 a0001c0001t0001g0237 others(37): Show |
41 | 63 | 0.6508 | -9 | c.-32 others(26): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AFTPH_chr2_64519328_64598005 | 64549308 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG01261.hp2 HG01993.hp1 others(29): Show |
a0001a0010a0011others(1): Show | a0001c0001a0010c0013a0011c0011others(1): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(5): Show | a0001c0001t0001g0003 a0001c0001t0001g0234 a0001c0001t0001g0237 others(28): Show |
32 | 57 | 0.5614 | -9 | c.-32 others(26): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235571995 | CACACACA others(2): Show |
C | intron_variant | MODIFIER | HG03098.hp1 HG03195.hp1 HG03471.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0048a0001c0002t0038a0001c0003t0021 | a0001c0001t0048g0054 a0001c0002t0038g0086 a0001c0003t0021g0023 |
3 | 98 | 0.0306 | -9 | c.163 others(28): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
AGAP1_chr2_235489043_236136793 | 235598843 | ATTTTTAG others(2): Show |
A | intron_variant | MODIFIER | HG02615.hp2 HG03471.hp1 HG03516.hp2 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0012a0001c0001t0048a0001c0019t0007 | a0001c0001t0012g0071 a0001c0001t0048g0054 a0001c0019t0007g0056 |
3 | 98 | 0.0306 | -9 | c.163 others(30): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235686654 | TATATATA others(2): Show |
T | intron_variant | MODIFIER | HG04199.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0003a0001c0017t0008 | a0001c0001t0003g0036 a0001c0017t0008g0092 |
2 | 96 | 0.0208 | -9 | c.164 others(28): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | chr2 | TogoVar | |||||||
AGAP1_chr2_235489043_236136793 | 235868147 | CTATTAAC others(2): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01192.hp2 |
a0002 | a0002c0004a0002c0007 | a0002c0004t0006a0002c0007t0018 | a0002c0004t0006g0042 a0002c0007t0018g0028 |
2 | 98 | 0.0204 | -9 | c.105 others(30): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235869420 | TAAAAAAA others(2): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG02615.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0011a0001c0001t0044a0001c0002t0001others(3): Show | a0001c0001t0011g0020 a0001c0001t0044g0041 a0001c0002t0001g0013 others(3): Show |
6 | 23 | 0.2609 | -9 | c.105 others(30): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235884860 | ACAGCAGC others(2): Show |
A | intron_variant | MODIFIER | HG01358.hp2 HG02896.hp1 HG03041.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0002a0001c0001t0048a0001c0002t0001others(2): Show | a0001c0001t0002g0002 a0001c0001t0002g0046 a0001c0001t0048g0054 others(3): Show |
6 | 55 | 0.1091 | -9 | c.115 others(28): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGAP3_chr7_151081475_151149434 | 151104862 | AAGAACGG others(2): Show |
A | intron_variant | MODIFIER | HG02970.hp1 NA19030.hp2 NA19240.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0014 a0001c0004t0001g0015 a0001c0004t0001g0017 |
3 | 352 | 0.0085 | -9 | c.332 others(28): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AGAP6_chr10_49983406_50015499 | 49986583 | AATCATCA others(2): Show |
A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00733.hp1 others(14): Show |
a0004 | a0004c0004a0004c0026 | a0004c0004t0004a0004c0026t0004 | a0004c0004t0004g0004 a0004c0004t0004g0039 a0004c0004t0004g0040 others(5): Show |
17 | 332 | 0.0512 | -9 | c.-21 others(20): Show |
AGAP6 | ENSG00000204149.16 | transcript | ENST00000412531.7 | protein_coding | 1822 | chr10 | TogoVar | |||||||
AGBL1_chr15_86074871_86921156 | 86236943 | GGGGGGGG others(2): Show |
G | intron_variant | MODIFIER | HG00621.hp2 HG01099.hp1 HG01192.hp2 others(15): Show |
a0001a0003a0005others(1): Show | a0001c0004a0001c0008a0001c0010others(8): Show | a0001c0004t0001a0001c0004t0019a0001c0004t0034others(15): Show | a0001c0004t0001g0120 a0001c0004t0019g0075 a0001c0004t0034g0124 others(15): Show |
18 | 132 | 0.1364 | -9 | c.527 others(28): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86390660 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG01346.hp2 HG02647.hp2 HG03209.hp1 others(1): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0009a0001c0002t0011a0001c0007t0038others(1): Show | a0001c0001t0009g0103 a0001c0002t0011g0005 a0001c0007t0038g0129 others(1): Show |
4 | 26 | 0.1538 | -9 | c.237 others(28): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86410863 | AATATATA others(2): Show |
A | intron_variant | MODIFIER | HG03540.hp2 HG06807.hp2 |
a0010a0018 | a0010c0014a0018c0025 | a0010c0014t0054a0018c0025t0065 | a0010c0014t0054g0021 a0018c0025t0065g0022 |
2 | 130 | 0.0154 | -9 | c.255 others(30): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86444431 | TTCACATG others(2): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02976.hp2 HG03139.hp1 others(2): Show |
a0001a0003a0006 | a0001c0001a0001c0007a0003c0026others(1): Show | a0001c0001t0001a0001c0007t0021a0003c0026t0023others(1): Show | a0001c0001t0001g0097 a0001c0001t0001g0102 a0001c0007t0021g0096 others(2): Show |
5 | 132 | 0.0379 | -9 | c.255 others(30): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86542356 | ATTTTTTT others(2): Show |
A | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp2 HG02055.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0009a0001c0003t0008a0001c0004t0020others(2): Show | a0001c0001t0009g0103 a0001c0003t0008g0125 a0001c0004t0020g0078 others(2): Show |
5 | 27 | 0.1852 | -9 | c.268 others(28): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86625376 | TTTGTTTT others(2): Show |
T | intron_variant | MODIFIER | HG00738.hp1 HG01243.hp1 HG03239.hp1 others(1): Show |
a0001a0002a0012 | a0001c0001a0001c0004a0002c0005others(1): Show | a0001c0001t0047a0001c0004t0001a0002c0005t0006others(1): Show | a0001c0001t0047g0014 a0001c0004t0001g0120 a0002c0005t0006g0107 others(1): Show |
4 | 132 | 0.0303 | -9 | c.299 others(30): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 21/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86774584 | AGCTCTCA others(2): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG02486.hp2 HG03017.hp1 others(5): Show |
a0001a0002a0005 | a0001c0006a0001c0008a0001c0057others(3): Show | a0001c0006t0007a0001c0008t0002a0001c0008t0053others(5): Show | a0001c0006t0007g0018 a0001c0008t0002g0035 a0001c0008t0053g0042 others(5): Show |
8 | 132 | 0.0606 | -9 | c.315 others(32): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGBL3_chr7_134981508_135140778 | 135014197 | GAAAAAAA others(2): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(119): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0006a0001c0013others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(112): Show |
122 | 135 | 0.9037 | -9 | c.311 others(26): Show |
AGBL3 | ENSG00000146856.14 | transcript | ENST00000436302.6 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AGBL4_chr1_48527854_50028954 | 48601117 | ATGATAAT others(2): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02970.hp2 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0004a0004c0005t0008 | a0001c0001t0004g0065 a0004c0005t0008g0046 |
2 | 104 | 0.0192 | -9 | c.952 others(28): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 9/13 | chr1 | TogoVar | |||||||
AGBL4_chr1_48527854_50028954 | 48752870 | CTCCTGAG others(2): Show |
C | intron_variant | MODIFIER | HG02976.hp1 NA18906.hp1 |
a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0062 a0001c0004t0003g0064 |
2 | 104 | 0.0192 | -9 | c.635 others(28): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 6/13 | chr1 | TogoVar | |||||||
AGBL4_chr1_48527854_50028954 | 48779704 | CTTTTTTT others(2): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00639.hp2 others(70): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0008 a0001c0001t0001g0011 a0001c0001t0001g0012 others(70): Show |
73 | 82 | 0.8902 | -9 | c.634 others(28): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 6/13 | chr1 | TogoVar |