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 | 74383386 | GTCTGTC | G | intron_variant | MODIFIER | HG03130.hp1 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 a0001c0001t0001g0122 |
2 | 90 | 0.0222 | -6 | c.274 others(25): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74391650 | TATACAC | T | intron_variant | MODIFIER | HG00558.hp1 HG00735.hp1 HG00741.hp2 others(46): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0038 a0001c0001t0001g0039 a0001c0001t0001g0042 others(46): Show |
49 | 149 | 0.3289 | -6 | c.274 others(23): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74391652 | TACACAC | T | intron_variant | MODIFIER | NA18906.hp1 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0100 a0001c0002t0004g0101 |
2 | 105 | 0.0190 | -6 | c.274 others(23): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74406505 | AAATAAT | A | intron_variant | MODIFIER | HG00621.hp1 HG02004.hp2 HG02083.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0096 a0001c0001t0001g0117 a0001c0001t0001g0120 others(13): Show |
16 | 185 | 0.0865 | -6 | c.555 others(23): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74406523 | TAATAAG | T | intron_variant | MODIFIER | HG00558.hp2 HG00741.hp1 HG01106.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0108 a0001c0001t0001g0109 a0001c0001t0001g0110 others(13): Show |
16 | 181 | 0.0884 | -6 | c.555 others(23): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74406526 | TAAGAAG | T | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00621.hp2 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0014 others(67): Show |
70 | 118 | 0.5932 | -6 | c.555 others(23): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74416033 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00621.hp2 others(84): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(84): Show |
87 | 165 | 0.5273 | -6 | c.555 others(25): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74416061 | CACACAT | C | intron_variant | MODIFIER | HG02922.hp2 NA19011.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 a0001c0001t0001g0081 |
2 | 198 | 0.0101 | -6 | c.555 others(25): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74450652 | AGTTAAT | A | intron_variant | MODIFIER | HG02922.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 a0001c0001t0001g0116 |
2 | 198 | 0.0101 | -6 | c.555 others(25): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74473193 | GACACAC | G | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00621.hp2 others(75): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0006 others(75): Show |
78 | 181 | 0.4309 | -6 | c.556 others(25): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74493509 | TATATAG | T | intron_variant | MODIFIER | HG02083.hp2 HG02165.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 |
2 | 195 | 0.0103 | -6 | c.556 others(25): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74577110 | CTGTGTG | C | intron_variant | MODIFIER | HG03130.hp2 HG03195.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0031 a0001c0001t0001g0086 a0001c0004t0001g0030 |
3 | 33 | 0.0909 | -6 | c.727 others(25): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74581021 | TACACAC | T | intron_variant | MODIFIER | HG03098.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0129 a0001c0001t0001g0130 |
2 | 36 | 0.0556 | -6 | c.727 others(23): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74593104 | CAAATAT | C | intron_variant | MODIFIER | HG02615.hp2 HG02886.hp1 HG02970.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0003 a0001c0002t0001g0004 a0001c0002t0001g0020 others(4): Show |
7 | 198 | 0.0354 | -6 | c.762 others(23): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74619012 | TTGTGTG | T | intron_variant | MODIFIER | HG00735.hp2 HG01243.hp2 HG02559.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 a0001c0001t0001g0035 a0001c0001t0001g0089 others(6): Show |
9 | 48 | 0.1875 | -6 | c.877 others(25): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74630442 | CTTAACA | C | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp2 HG01109.hp1 others(50): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(50): Show |
53 | 198 | 0.2677 | -6 | c.877 others(25): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADK_chr10_74146221_74714290 | 74665736 | TGAGAGA | T | intron_variant | MODIFIER | HG00280.hp2 HG00735.hp1 HG00738.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0015 a0001c0001t0001g0029 a0001c0001t0001g0038 others(23): Show |
26 | 35 | 0.7429 | -6 | c.878 others(23): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ADM_chr11_10300073_10312397 | 10310649 | CAGAGAG | C | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01071.hp1 others(23): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0010a0001c0001t0011others(3): Show | a0001c0001t0002g0001 a0001c0001t0002g0002 a0001c0001t0002g0003 others(5): Show |
26 | 205 | 0.1268 | -6 | c.*40 others(17): Show |
ADM | ENSG00000148926.10 | transcript | ENST00000278175.10 | protein_coding | 3253 | chr11 | TogoVar | |||||||
ADNP2_chr18_80104262_80145346 | 80134416 | TGTGAGA | T | intron_variant | MODIFIER | HG01192.hp2 HG01361.hp1 HG04184.hp1 |
a0001 | a0001c0001a0001c0024 | a0001c0001t0001a0001c0024t0001 | a0001c0001t0001g0181 a0001c0001t0001g0199 a0001c0024t0001g0198 |
3 | 385 | 0.0078 | -6 | c.199 others(23): Show |
ADNP2 | ENSG00000101544.9 | transcript | ENST00000262198.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
ADNP_chr20_50883918_50936437 | 50909363 | CAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 HG02965.hp2 others(6): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0017a0001c0002t0019a0001c0002t0052others(4): Show | a0001c0002t0017g0015 a0001c0002t0017g0019 a0001c0002t0019g0059 others(6): Show |
9 | 48 | 0.1875 | -6 | c.-89 others(23): Show |
ADNP | ENSG00000101126.18 | transcript | ENST00000621696.5 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
ADNP_chr20_50883918_50936437 | 50912853 | TAAAGAA | T | intron_variant | MODIFIER | HG00423.hp2 HG01069.hp2 HG01123.hp2 others(34): Show |
a0001 | a0001c0002a0001c0007a0001c0015 | a0001c0002t0013a0001c0002t0017a0001c0002t0019others(18): Show | a0001c0002t0013g0012 a0001c0002t0013g0014 a0001c0002t0013g0021 others(34): Show |
37 | 356 | 0.1039 | -6 | c.-89 others(23): Show |
ADNP | ENSG00000101126.18 | transcript | ENST00000621696.5 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
ADNP_chr20_50883918_50936437 | 50913250 | CAAAAAA | C | intron_variant | MODIFIER | HG00558.hp2 HG01109.hp2 HG01168.hp2 others(16): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(8): Show | a0001c0001t0002g0276 a0001c0001t0002g0277 a0001c0001t0002g0282 others(15): Show |
19 | 26 | 0.7308 | -6 | c.-89 others(23): Show |
ADNP | ENSG00000101126.18 | transcript | ENST00000621696.5 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
ADNP_chr20_50883918_50936437 | 50925263 | TACACAC | T | intron_variant | MODIFIER | HG00741.hp2 HG01952.hp1 HG02109.hp1 others(10): Show |
a0001a0004 | a0001c0002a0001c0003a0004c0016 | a0001c0002t0013a0001c0003t0014a0001c0003t0042others(5): Show | a0001c0002t0013g0014 a0001c0003t0014g0090 a0001c0003t0014g0091 others(10): Show |
13 | 126 | 0.1032 | -6 | c.-90 others(23): Show |
ADNP | ENSG00000101126.18 | transcript | ENST00000621696.5 | protein_coding | 2/5 | chr20 | TogoVar | |||||||
ADORA1_chr1_203122726_203172405 | 203144081 | TACACAC | T | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp2 HG01071.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 a0001c0001t0001g0124 a0001c0001t0001g0139 others(3): Show |
6 | 51 | 0.1176 | -6 | c.341 others(25): Show |
ADORA1 | ENSG00000163485.18 | transcript | ENST00000337894.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADORA1_chr1_203122726_203172405 | 203155016 | TTTATTA | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(59): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0004 a0001c0001t0001g0011 a0001c0001t0001g0022 others(48): Show |
62 | 162 | 0.3827 | -6 | c.342 others(25): Show |
ADORA1 | ENSG00000163485.18 | transcript | ENST00000337894.9 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADORA3_chr1_111494429_111508633 | 111499090 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG01192.hp1 HG02055.hp2 HG02109.hp2 others(11): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0002a0001c0001t0007a0004c0006t0002 | a0001c0001t0002g0009 a0001c0001t0002g0054 a0001c0001t0007g0061 others(1): Show |
14 | 117 | 0.1197 | -6 | c.*85 others(15): Show |
ADORA3 | ENSG00000282608.2 | transcript | ENST00000241356.5 | protein_coding | 338 | chr1 | TogoVar | |||||||
ADORA3_chr1_111494429_111508633 | 111507039 | GTATATA | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00558.hp2 HG00673.hp1 others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0044 others(9): Show |
66 | 224 | 0.2946 | -6 | c.-36 others(17): Show |
ADORA3 | ENSG00000282608.2 | transcript | ENST00000241356.5 | protein_coding | 3407 | chr1 | TogoVar | |||||||
ADPGK_chr15_72746294_72788758 | 72788596 | CGTGATG | C | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02145.hp1 HG02451.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0019 a0001c0004t0001g0036 a0001c0004t0001g0173 others(1): Show |
5 | 368 | 0.0136 | -6 | c.-49 others(17): Show |
ADPGK | ENSG00000159322.18 | transcript | ENST00000456471.3 | protein_coding | 4839 | chr15 | TogoVar | |||||||
ADPRM_chr17_10692594_10716558 | 10695706 | TTTATAC | T | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp1 others(43): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0007t0001a0002c0002t0002 | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0009 others(14): Show |
46 | 400 | 0.1150 | -6 | c.-19 others(17): Show |
ADPRM | ENSG00000170222.12 | transcript | ENST00000379774.5 | protein_coding | 1887 | chr17 | TogoVar | |||||||
ADRA1A_chr8_26763809_26872278 | 26816533 | ATGTGTG | A | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG00639.hp1 others(70): Show |
a0001a0003a0012 | a0001c0001a0001c0011a0001c0016others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0006 a0001c0001t0001g0110 a0001c0001t0001g0114 others(67): Show |
73 | 187 | 0.3904 | -6 | c.884 others(25): Show |
ADRA1A | ENSG00000120907.18 | transcript | ENST00000380573.4 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
ADRA1A_chr8_26763809_26872278 | 26842866 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00438.hp2 others(94): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0018others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0006 a0001c0001t0001g0091 a0001c0001t0001g0095 others(91): Show |
97 | 173 | 0.5607 | -6 | c.883 others(25): Show |
ADRA1A | ENSG00000120907.18 | transcript | ENST00000380573.4 | protein_coding | 2/2 | chr8 | TogoVar | |||||||
ADRA1B_chr5_159911482_159978012 | 159939278 | AGTGTGT | A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01243.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0015a0001c0002t0001 | a0001c0001t0001g0045 a0001c0001t0001g0056 a0001c0001t0001g0205 others(12): Show |
15 | 249 | 0.0602 | -6 | c.949 others(25): Show |
ADRA1B | ENSG00000170214.5 | transcript | ENST00000306675.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADRA1B_chr5_159911482_159978012 | 159939318 | TGTGTGC | T | intron_variant | MODIFIER | HG02280.hp1 HG02976.hp2 NA18906.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001 | a0001c0001t0001g0316 a0001c0001t0001g0317 a0003c0006t0001g0013 |
3 | 314 | 0.0096 | -6 | c.949 others(25): Show |
ADRA1B | ENSG00000170214.5 | transcript | ENST00000306675.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADRA1B_chr5_159911482_159978012 | 159939331 | GCGCGCA | G | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp2 NA18955.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0077 a0001c0003t0001g0363 a0001c0003t0001g0364 |
3 | 382 | 0.0079 | -6 | c.949 others(25): Show |
ADRA1B | ENSG00000170214.5 | transcript | ENST00000306675.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADRA1B_chr5_159911482_159978012 | 159943912 | TCACACA | T | intron_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG00741.hp1 others(29): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0003t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0018 others(27): Show |
32 | 256 | 0.1250 | -6 | c.949 others(25): Show |
ADRA1B | ENSG00000170214.5 | transcript | ENST00000306675.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ADTRP_chr6_11708523_11783803 | 11715648 | CTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(143): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(137): Show |
146 | 225 | 0.6489 | -6 | c.659 others(23): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 5/5 | chr6 | TogoVar | |||||||
ADTRP_chr6_11708523_11783803 | 11715806 | CTTTTTT | C | intron_variant | MODIFIER | HG01884.hp1 HG01981.hp2 HG02055.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(1): Show | a0001c0001t0001g0262 a0001c0001t0002g0007 a0001c0001t0002g0011 others(17): Show |
21 | 49 | 0.4286 | -6 | c.659 others(23): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 5/5 | chr6 | TogoVar | |||||||
ADTRP_chr6_11708523_11783803 | 11745170 | ATCTCTC | A | intron_variant | MODIFIER | HG02615.hp1 HG02630.hp2 HG02647.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0189 a0001c0001t0001g0223 others(2): Show |
6 | 77 | 0.0779 | -6 | c.391 others(23): Show |
ADTRP | ENSG00000111863.13 | transcript | ENST00000414691.8 | protein_coding | 3/5 | chr6 | TogoVar | |||||||
AEBP2_chr12_19434492_19527227 | 19475295 | CTAATTA | C | intron_variant | MODIFIER | NA18953.hp2 NA18972.hp1 NA18982.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0019a0001c0001t0046 | a0001c0001t0016g0038 a0001c0001t0016g0039 a0001c0001t0016g0041 others(5): Show |
8 | 402 | 0.0199 | -6 | c.987 others(23): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AEBP2_chr12_19434492_19527227 | 19479717 | GTTTTTT | G | intron_variant | MODIFIER | HG00558.hp2 HG01109.hp1 HG01358.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0047a0001c0002t0001others(3): Show | a0001c0001t0001g0096 a0001c0001t0001g0097 a0001c0001t0001g0103 others(22): Show |
25 | 73 | 0.3425 | -6 | c.987 others(23): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AEBP2_chr12_19434492_19527227 | 19489990 | CTTTTTT | C | intron_variant | MODIFIER | HG00621.hp2 HG02647.hp1 HG02717.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0002 | a0001c0001t0002g0187 a0001c0001t0005g0140 a0001c0001t0005g0144 others(6): Show |
9 | 207 | 0.0435 | -6 | c.988 others(23): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AEBP2_chr12_19434492_19527227 | 19508772 | AACAAAT | A | intron_variant | MODIFIER | NA18953.hp2 NA18972.hp1 NA18982.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0019a0001c0001t0046 | a0001c0001t0016g0038 a0001c0001t0016g0039 a0001c0001t0016g0041 others(5): Show |
8 | 402 | 0.0199 | -6 | c.130 others(25): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 5/7 | chr12 | TogoVar | |||||||
AEBP2_chr12_19434492_19527227 | 19525458 | CTTTCCT | C | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02818.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0235 a0001c0001t0015g0236 a0001c0001t0015g0237 |
3 | 402 | 0.0075 | -6 | c.*73 others(17): Show |
AEBP2 | ENSG00000139154.16 | transcript | ENST00000266508.14 | protein_coding | 3232 | chr12 | TogoVar | |||||||
AFAP1L1_chr5_149266859_149348637 | 149275455 | TTCTTCC | T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00642.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0025 a0001c0001t0001g0026 a0001c0001t0001g0032 others(36): Show |
41 | 284 | 0.1444 | -6 | c.16+ others(21): Show |
AFAP1L1 | ENSG00000157510.14 | transcript | ENST00000296721.9 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AFAP1L1_chr5_149266859_149348637 | 149305878 | CCACACA | C | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00642.hp2 others(43): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0005a0003c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0056 a0001c0001t0001g0057 a0001c0001t0001g0083 others(43): Show |
46 | 72 | 0.6389 | -6 | c.437 others(21): Show |
AFAP1L1 | ENSG00000157510.14 | transcript | ENST00000296721.9 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AFAP1L2_chr10_114289824_114409502 | 114368767 | AACACAC | A | intron_variant | MODIFIER | HG00639.hp1 HG00741.hp1 HG01261.hp1 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0003others(10): Show | a0001c0001t0001g0055 a0001c0001t0001g0056 a0001c0001t0001g0071 others(24): Show |
27 | 30 | 0.9000 | -6 | c.17- others(23): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 1/18 | chr10 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7795405 | CTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG01069.hp2 HG01099.hp1 others(9): Show |
a0001a0002 | a0001c0004a0001c0007a0001c0009others(2): Show | a0001c0004t0006a0001c0004t0008a0001c0004t0011others(5): Show | a0001c0004t0006g0063 a0001c0004t0008g0293 a0001c0004t0011g0253 others(9): Show |
12 | 31 | 0.3871 | -6 | c.126 others(25): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 10/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7840305 | GGTGTGT | G | intron_variant | MODIFIER | HG01433.hp1 HG02258.hp2 HG02572.hp2 others(14): Show |
a0001a0007 | a0001c0002a0001c0004a0001c0010others(3): Show | a0001c0002t0024a0001c0002t0034a0001c0002t0048others(7): Show | a0001c0002t0024g0291 a0001c0002t0034g0268 a0001c0002t0034g0292 others(14): Show |
17 | 116 | 0.1466 | -6 | c.547 others(23): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 5/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7840822 | CGGAAAG | C | intron_variant | MODIFIER | HG02257.hp1 HG02630.hp1 HG02922.hp2 others(2): Show |
a0002 | a0002c0005 | a0002c0005t0004 | a0002c0005t0004g0012 a0002c0005t0004g0213 a0002c0005t0004g0266 others(2): Show |
5 | 316 | 0.0158 | -6 | c.547 others(23): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 5/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7869144 | AGAAAGG | A | intron_variant | MODIFIER | HG02040.hp1 HG04184.hp2 NA19007.hp1 |
a0001a0003 | a0001c0003a0003c0006 | a0001c0003t0002a0003c0006t0005 | a0001c0003t0002g0176 a0001c0003t0002g0256 a0003c0006t0005g0143 |
3 | 316 | 0.0095 | -6 | c.128 others(21): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 2/17 | chr4 | TogoVar |