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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
YJU2_chr19_4242080_4274088 | 4247583 | GTGTGTGT others(66): Show |
G | intron_variant | MODIFIER | HG03471.hp2 NA19030.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0057 a0001c0005t0001g0058 |
2 | 384 | 0.0052 | -73 | c.24+ others(86): Show |
YJU2 | ENSG00000105248.16 | transcript | ENST00000262962.12 | protein_coding | 1/7 | chr19 | TogoVar | |||||||
ZNF180_chr19_44469443_44505522 | 44488068 | CTCTCCCT others(66): Show |
C | intron_variant | MODIFIER | HG02683.hp2 HG03654.hp2 NA19077.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0089 a0001c0001t0001g0150 a0001c0001t0001g0212 others(2): Show |
5 | 428 | 0.0117 | -73 | c.52- others(88): Show |
ZNF180 | ENSG00000167384.11 | transcript | ENST00000592529.6 | protein_coding | 2/4 | chr19 | TogoVar | |||||||
ZNF202_chr11_123718914_123746660 | 123744722 | TAATGATC others(66): Show |
T | upstream_gene_variant | MODIFIER | NA18953.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002 | 1 | 428 | 0.0023 | -73 | c.-35 others(84): Show |
ZNF202 | ENSG00000166261.11 | transcript | ENST00000530393.6 | protein_coding | 3063 | chr11 | TogoVar | |||||||
ZNF440_chr19_11809273_11840216 | 11811899 | AGAAAGAA others(66): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp2 | a0003 | a0003c0003 | a0003c0003t0003 | a0003c0003t0003g0075 | 1 | 376 | 0.0027 | -73 | c.-25 others(84): Show |
ZNF440 | ENSG00000171295.13 | transcript | ENST00000304060.10 | protein_coding | 2373 | chr19 | TogoVar | |||||||
ZNF491_chr19_11793523_11813503 | 11811899 | AGAAAGAA others(66): Show |
A | downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0014 | 1 | 390 | 0.0026 | -73 | c.*46 others(84): Show |
ZNF491 | ENSG00000177599.13 | transcript | ENST00000323169.10 | protein_coding | 3397 | chr19 | TogoVar | |||||||
ZNF560_chr19_9461355_9503616 | 9498195 | AACGGCAA others(66): Show |
A | splice_acceptor_variant others(3): Show |
HIGH | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0281 | 1 | 410 | 0.0024 | -73 | c.-14 others(85): Show |
ZNF560 | ENSG00000198028.4 | transcript | ENST00000301480.5 | protein_coding | 2/10 | 22883 | chr19 | TogoVar | ||||||
ABCC4_chr13_95014835_95306451 | 95196582 | GAGGAAGG others(65): Show |
G | intron_variant | MODIFIER | HG00673.hp1 HG02080.hp1 HG02155.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0009a0001c0011others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0009t0001others(3): Show | a0001c0002t0001g0238 a0001c0002t0002g0178 a0001c0009t0001g0128 others(3): Show |
6 | 248 | 0.0242 | -72 | c.116 others(91): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 8/30 | chr13 | TogoVar | |||||||
ABCC4_chr13_95014835_95306451 | 95196661 | GAAGGAAG others(65): Show |
G | intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0047 | a0001c0047t0006 | a0001c0047t0006g0120 | 1 | 248 | 0.0040 | -72 | c.116 others(91): Show |
ABCC4 | ENSG00000125257.16 | transcript | ENST00000645237.2 | protein_coding | 8/30 | chr13 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1128860 | ACGTTTTC others(65): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(289): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(87): Show | a0001c0001t0001g0001 a0001c0001t0001g0054 a0001c0001t0001g0056 others(288): Show |
292 | 337 | 0.8665 | -72 | c.62- others(87): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1128867 | CACAAGCT others(65): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp1 HG02109.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0005a0001c0001t0007a0001c0001t0008others(20): Show | a0001c0001t0005g0269 a0001c0001t0005g0283 a0001c0001t0007g0280 others(25): Show |
28 | 337 | 0.0831 | -72 | c.62- others(87): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1143308 | CTCCTGGG others(65): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(75): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0056 a0001c0001t0001g0069 a0001c0001t0001g0071 others(75): Show |
78 | 337 | 0.2315 | -72 | c.62- others(89): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1143362 | CTCCTGGG others(65): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0112 | 1 | 337 | 0.0030 | -72 | c.62- others(89): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1143433 | ATTCCTGG others(65): Show |
A | intron_variant | MODIFIER | HG02015.hp2 HG02040.hp2 HG02523.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(6): Show | a0001c0001t0001g0187 a0001c0001t0004g0257 a0001c0001t0004g0293 others(7): Show |
10 | 337 | 0.0297 | -72 | c.62- others(89): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1288683 | CCGTGTCC others(65): Show |
C | downstream_gene_variant | MODIFIER | HG01943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 295 | 0.0034 | -72 | c.*48 others(83): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3707 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289245 | CCGTGTCT others(65): Show |
C | downstream_gene_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 295 | 0.0034 | -72 | c.*42 others(83): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 3145 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289453 | CCGTGTCT others(65): Show |
C | downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0095 | 1 | 295 | 0.0034 | -72 | c.*40 others(83): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2937 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289498 | TCTGCTCC others(65): Show |
T | downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 295 | 0.0034 | -72 | c.*39 others(83): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2892 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289552 | CCTGCTCC others(65): Show |
C | downstream_gene_variant | MODIFIER | HG02738.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0194 a0001c0001t0001g0198 |
2 | 295 | 0.0068 | -72 | c.*39 others(83): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2838 | chr1 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1290110 | CCGTGTCT others(65): Show |
C | downstream_gene_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0210 | 1 | 295 | 0.0034 | -72 | c.*33 others(83): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2280 | chr1 | TogoVar | |||||||
ACSF2_chr17_50421218_50479837 | 50476109 | GCCTGCCC others(65): Show |
G | downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0117 | 1 | 320 | 0.0031 | -72 | c.*15 others(83): Show |
ACSF2 | ENSG00000167107.13 | transcript | ENST00000300441.9 | protein_coding | 1273 | chr17 | TogoVar | |||||||
ADAM10_chr15_58583809_58754707 | 58736383 | TTAATACT others(65): Show |
T | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0294 | 1 | 342 | 0.0029 | -72 | c.55+ others(89): Show |
ADAM10 | ENSG00000137845.15 | transcript | ENST00000260408.8 | protein_coding | 1/15 | chr15 | TogoVar | |||||||
ADAMTS19_chr5_129455298_129743683 | 129578103 | CATATGCA others(65): Show |
C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01346.hp1 others(9): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0004a0007c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0004t0001others(2): Show | a0001c0001t0001g0136 a0001c0001t0002g0015 a0001c0001t0002g0042 others(9): Show |
12 | 226 | 0.0531 | -72 | c.137 others(93): Show |
ADAMTS19 | ENSG00000145808.10 | transcript | ENST00000274487.9 | protein_coding | 7/22 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADAMTS3_chr4_72275969_72574221 | 72550009 | AGAAGAAG others(65): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG01258.hp1 HG02004.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(4): Show | a0001c0001t0001g0156 a0001c0001t0001g0163 a0001c0001t0001g0169 others(8): Show |
11 | 182 | 0.0604 | -72 | c.98- others(87): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1205332 | AGGAGACA others(65): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00639.hp1 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0013a0001c0001t0015a0001c0001t0054others(12): Show | a0001c0001t0013g0007 a0001c0001t0015g0005 a0001c0001t0054g0083 others(16): Show |
19 | 106 | 0.1793 | -72 | c.168 others(91): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 7/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1237053 | TACTCCCC others(65): Show |
T | intron_variant | MODIFIER | HG01243.hp1 NA19043.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0011a0002c0004t0005 | a0001c0001t0011g0026 a0002c0004t0005g0029 |
2 | 106 | 0.0189 | -72 | c.136 others(91): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1237061 | TCTGCCTC others(65): Show |
T | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0059 | 1 | 106 | 0.0094 | -72 | c.136 others(91): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1237517 | TCTGCCTC others(65): Show |
T | intron_variant | MODIFIER | HG01934.hp1 HG02027.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0055a0002c0002t0006 | a0001c0001t0055g0089 a0002c0002t0006g0018 |
2 | 106 | 0.0189 | -72 | c.136 others(91): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1237541 | CCTGCCTC others(65): Show |
C | intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0007 | 1 | 106 | 0.0094 | -72 | c.136 others(91): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1237544 | GCCTCCCG others(65): Show |
G | intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0075 | 1 | 106 | 0.0094 | -72 | c.136 others(91): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1238534 | CACTCCCC others(65): Show |
C | intron_variant | MODIFIER | NA18988.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0094 | 1 | 106 | 0.0094 | -72 | c.136 others(91): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1239377 | TACTCCCC others(65): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02735.hp2 HG02970.hp1 |
a0001a0002 | a0001c0007a0002c0002 | a0001c0007t0033a0002c0002t0002a0002c0002t0046 | a0001c0007t0033g0041 a0002c0002t0002g0066 a0002c0002t0046g0056 |
3 | 106 | 0.0283 | -72 | c.136 others(91): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1239737 | CACTCCCC others(65): Show |
C | intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 106 | 0.0094 | -72 | c.136 others(91): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1239857 | TACTCCCC others(65): Show |
T | intron_variant | MODIFIER | HG02622.hp2 NA19011.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0004 | a0001c0001t0001g0045 a0002c0002t0004g0088 |
2 | 106 | 0.0189 | -72 | c.136 others(91): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1239868 | CCCTCCCG others(65): Show |
C | intron_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0002 | a0002c0002t0053 | a0002c0002t0053g0106 | 1 | 106 | 0.0094 | -72 | c.136 others(91): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1239916 | CCCTCCCG others(65): Show |
C | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0055 | a0001c0001t0055g0089 | 1 | 106 | 0.0094 | -72 | c.136 others(91): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1240102 | CCCCTCTG others(65): Show |
C | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0013 | 1 | 106 | 0.0094 | -72 | c.136 others(91): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1240203 | CCTCCCTC others(65): Show |
C | intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0066 | 1 | 106 | 0.0094 | -72 | c.136 others(91): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1240230 | GCCTCCCG others(65): Show |
G | intron_variant | MODIFIER | HG03041.hp2 NA18945.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0012a0002c0002t0007 | a0001c0001t0012g0009 a0002c0002t0007g0002 |
2 | 106 | 0.0189 | -72 | c.136 others(91): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1327416 | CCAGCGCC others(65): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02970.hp1 |
a0002 | a0002c0002 | a0002c0002t0038a0002c0002t0046 | a0002c0002t0038g0048 a0002c0002t0046g0056 |
2 | 106 | 0.0189 | -72 | c.107 others(93): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1529118 | CCCCAACA others(65): Show |
C | intron_variant | MODIFIER | HG02080.hp1 | a0002 | a0002c0002 | a0002c0002t0041 | a0002c0002t0041g0074 | 1 | 106 | 0.0094 | -72 | c.101 others(93): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADARB2_chr10_1172313_1742525 | 1529218 | CGCACCAT others(65): Show |
C | intron_variant | MODIFIER | HG02040.hp2 HG02083.hp1 NA18967.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0011a0002c0002t0006a0002c0002t0008 | a0001c0001t0011g0017 a0002c0002t0006g0019 a0002c0002t0008g0058 |
3 | 106 | 0.0283 | -72 | c.101 others(93): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133099154 | CGGAGAAA others(65): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0024a0001c0012t0002 | a0001c0001t0024g0044 a0001c0012t0002g0045 |
2 | 368 | 0.0054 | -72 | c.255 others(87): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADGRL3_chr4_61195326_62083335 | 61456405 | ATATATAT others(65): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0041 | 1 | 58 | 0.0172 | -72 | c.-17 others(93): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ADPRHL1_chr13_113394611_113458488 | 113404080 | TTCCTGAG others(65): Show |
T | disruptive_inframe_deletion | MODERATE | HG00423.hp2 HG01358.hp2 HG02055.hp2 others(5): Show |
a0008a0013a0014others(1): Show | a0008c0013a0013c0016a0014c0048others(2): Show | a0008c0013t0035a0008c0013t0036a0008c0013t0039others(4): Show | a0008c0013t0035g0078 a0008c0013t0036g0015 a0008c0013t0039g0069 others(5): Show |
8 | 262 | 0.0305 | -72 | c.513 others(81): Show |
p.Arg others(15): Show |
ADPRHL1 | ENSG00000153531.15 | transcript | ENST00000612156.3 | protein_coding | 8/8 | 5252/9722 | 5130/5904 | 1710/1967 | chr13 | TogoVar | |||
AGBL1_chr15_86074871_86921156 | 86827297 | ATATATGT others(65): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG01081.hp1 HG01258.hp2 others(10): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0004others(8): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0006others(10): Show | a0001c0001t0003g0113 a0001c0002t0001g0128 a0001c0002t0006g0003 others(10): Show |
13 | 132 | 0.0985 | -72 | c.315 others(93): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 22/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15322577 | TATATATA others(65): Show |
T | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0183 | 1 | 236 | 0.0042 | -72 | c.126 others(93): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15354364 | ATATAGAC others(65): Show |
A | intron_variant | MODIFIER | HG02080.hp1 HG02145.hp2 HG02155.hp2 others(5): Show |
a0001a0002a0016 | a0001c0001a0002c0004a0016c0022 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0067 a0001c0001t0001g0093 a0001c0001t0001g0135 others(5): Show |
8 | 236 | 0.0339 | -72 | c.126 others(93): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 343249 | GGGGTGAC others(65): Show |
G | intron_variant | MODIFIER | HG00741.hp2 | a0003 | a0003c0004 | a0003c0004t0028 | a0003c0004t0028g0006 | 1 | 268 | 0.0037 | -72 | c.-10 others(87): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AKT1S1_chr19_49864039_49882355 | 49875293 | AGTGAGGC others(65): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(219): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(44): Show |
222 | 420 | 0.5286 | -72 | c.-8+ others(87): Show |
AKT1S1 | ENSG00000204673.11 | transcript | ENST00000344175.10 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
ALDH16A1_chr19_49448225_49476050 | 49463560 | TGCTGGGG others(65): Show |
T | intron_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0224 | 1 | 342 | 0.0029 | -72 | c.109 others(89): Show |
ALDH16A1 | ENSG00000161618.10 | transcript | ENST00000293350.9 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |