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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AOAH_chr7_36507941_36729494 | 36517939 | ACACACC | A | intron_variant | MODIFIER | HG00741.hp2 HG02145.hp2 HG02257.hp2 others(12): Show |
a0001a0005 | a0001c0001a0001c0003a0001c0018others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0018t0001others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0019 a0001c0001t0001g0028 others(12): Show |
15 | 304 | 0.0493 | -6 | c.159 others(25): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 20/20 | chr7 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36608904 | GCGGGGA | G | intron_variant | MODIFIER | HG01109.hp2 HG02486.hp1 HG02895.hp2 others(3): Show |
a0001a0005 | a0001c0001a0001c0007a0005c0006 | a0001c0001t0001a0001c0007t0001a0005c0006t0004 | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0038 others(3): Show |
6 | 302 | 0.0199 | -6 | c.846 others(23): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 11/20 | chr7 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36678550 | AGTGTGT | A | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01071.hp1 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0019 a0001c0001t0001g0035 a0001c0001t0001g0089 others(33): Show |
36 | 87 | 0.4138 | -6 | c.224 others(23): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 2/20 | chr7 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36683723 | CTTGAAT | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00423.hp2 others(88): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(12): Show | a0001c0001t0001g0049 a0001c0001t0001g0117 a0001c0001t0001g0129 others(88): Show |
91 | 304 | 0.2993 | -6 | c.223 others(23): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 2/20 | chr7 | TogoVar | |||||||
AOAH_chr7_36507941_36729494 | 36684934 | AAAAAAG | A | intron_variant | MODIFIER | HG00621.hp1 HG01167.hp1 HG02135.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(3): Show | a0001c0001t0001g0065 a0001c0001t0001g0067 a0001c0001t0001g0117 others(8): Show |
11 | 303 | 0.0363 | -6 | c.223 others(23): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 2/20 | chr7 | TogoVar | |||||||
AOC1_chr7_150847517_150866504 | 150853661 | CTATATA | C | intron_variant | MODIFIER | HG00609.hp1 HG01109.hp1 HG02523.hp2 others(7): Show |
a0001a0002a0011others(1): Show | a0001c0002a0002c0001a0002c0009others(2): Show | a0001c0002t0002a0002c0001t0001a0002c0009t0001others(2): Show | a0001c0002t0002g0051 a0001c0002t0002g0113 a0002c0001t0001g0052 others(6): Show |
10 | 35 | 0.2857 | -6 | c.-17 others(23): Show |
AOC1 | ENSG00000002726.21 | transcript | ENST00000360937.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94743167 | AAAGAAG | A | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02615.hp2 others(7): Show |
a0001a0006 | a0001c0001a0001c0016a0006c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0111 a0001c0001t0001g0120 a0001c0001t0002g0105 others(7): Show |
10 | 157 | 0.0637 | -6 | c.-13 others(27): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 94794789 | ACAAAAC | A | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp2 HG01109.hp1 others(64): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0016a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0111 a0001c0001t0001g0115 a0001c0001t0001g0118 others(64): Show |
67 | 180 | 0.3722 | -6 | c.111 others(25): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 4/16 | chr9 | TogoVar | |||||||
AOPEP_chr9_94721699_95092159 | 94821970 | AACACAC | A | intron_variant | MODIFIER | HG01255.hp1 HG02615.hp2 HG02735.hp1 others(4): Show |
a0001a0002a0005 | a0001c0001a0002c0008a0005c0005 | a0001c0001t0001a0001c0001t0002a0002c0008t0001others(1): Show | a0001c0001t0001g0111 a0001c0001t0002g0105 a0001c0001t0002g0121 others(4): Show |
7 | 58 | 0.1207 | -6 | c.136 others(27): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 95004125 | ATAAAGT | A | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 a0001c0001t0001g0123 |
2 | 180 | 0.0111 | -6 | c.197 others(25): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 95011211 | ATTTTTT | A | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(95): Show |
a0001a0002a0004others(3): Show | a0001c0001a0002c0002a0002c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(95): Show |
98 | 114 | 0.8596 | -6 | c.211 others(25): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 95053707 | TTTGTTG | T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(98): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0015a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(98): Show |
101 | 163 | 0.6196 | -6 | c.211 others(25): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
AOPEP_chr9_94721699_95092159 | 95092056 | CTGTGTG | C | downstream_gene_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01243.hp2 others(10): Show |
a0001a0002a0006others(2): Show | a0001c0001a0002c0008a0006c0006others(2): Show | a0001c0001t0001a0001c0001t0003a0002c0008t0003others(3): Show | a0001c0001t0001g0122 a0001c0001t0001g0123 a0001c0001t0003g0060 others(10): Show |
13 | 83 | 0.1566 | -6 | c.*53 others(17): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 4898 | chr9 | TogoVar | |||||||
AOPEP_chr9_94721699_95092159 | 95092078 | GTGTGCA | G | downstream_gene_variant | MODIFIER | HG00741.hp2 HG03834.hp2 |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0014t0001 | a0001c0001t0001g0013 a0001c0014t0001g0011 |
2 | 180 | 0.0111 | -6 | c.*54 others(17): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 4920 | chr9 | TogoVar | |||||||
AOX1_chr2_200581014_200676495 | 200654206 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00597.hp1 others(125): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0008others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(14): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0009 others(125): Show |
128 | 250 | 0.5120 | -6 | c.307 others(25): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 26/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AP1AR_chr4_112226787_112278110 | 112277723 | AAATGAT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(232): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(25): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0007 others(131): Show |
235 | 396 | 0.5934 | -6 | c.*93 others(17): Show |
AP1AR | ENSG00000138660.12 | transcript | ENST00000274000.10 | protein_coding | 4614 | chr4 | TogoVar | |||||||
AP1B1_chr22_29322680_29393570 | 29366833 | GACACAC | G | intron_variant | MODIFIER | HG02015.hp2 HG02080.hp2 HG02976.hp2 others(6): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(1): Show | a0001c0001t0001g0159 a0001c0001t0001g0162 a0001c0001t0001g0172 others(6): Show |
9 | 80 | 0.1125 | -6 | c.37+ others(19): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2/22 | chr22 | TogoVar | |||||||
AP1B1_chr22_29322680_29393570 | 29392378 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp2 others(70): Show |
a0001a0002a0004 | a0001c0001a0002c0007a0004c0013 | a0001c0001t0001a0001c0001t0008a0001c0001t0015others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(66): Show |
73 | 134 | 0.5448 | -6 | c.-39 others(17): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 3809 | chr22 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71736115 | AAAATAT | A | intron_variant | MODIFIER | HG00733.hp1 HG01358.hp2 HG01516.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009 | a0001c0001t0005g0050 a0001c0001t0005g0051 a0001c0001t0005g0052 others(9): Show |
12 | 309 | 0.0388 | -6 | c.226 others(25): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71736117 | AATATAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00735.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0009others(7): Show | a0001c0001t0005g0058 a0001c0001t0005g0112 a0001c0001t0005g0114 others(35): Show |
39 | 250 | 0.1560 | -6 | c.226 others(25): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71787318 | CAAAAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG00741.hp1 others(34): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0002a0001c0003t0008a0002c0002t0001others(6): Show | a0001c0001t0002g0316 a0001c0003t0008g0183 a0001c0003t0008g0184 others(34): Show |
37 | 58 | 0.6379 | -6 | c.201 others(23): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 2/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71807185 | GGAGGCC | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00408.hp2 others(104): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(12): Show | a0001c0001t0002g0044 a0001c0001t0002g0194 a0001c0001t0002g0198 others(104): Show |
107 | 318 | 0.3365 | -6 | c.-4+ others(21): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16239239 | CTTTTTT | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00597.hp2 HG00609.hp2 others(46): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0098a0001c0002t0001a0001c0002t0011others(10): Show | a0001c0001t0098g0182 a0001c0002t0001g0012 a0001c0002t0001g0031 others(46): Show |
49 | 86 | 0.5698 | -6 | c.*48 others(17): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 4839 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16240268 | GTGTGTA | G | 3_prime_UTR_variant | MODIFIER | HG02895.hp1 HG02897.hp2 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0016a0001c0001t0111a0001c0001t0143 | a0001c0001t0016g0018 a0001c0001t0111g0020 a0001c0001t0143g0007 |
3 | 306 | 0.0098 | -6 | c.*58 others(17): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 5839 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16243246 | TTTTTTG | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(241): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(115): Show | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0010 others(230): Show |
244 | 297 | 0.8215 | -6 | c.*88 others(17): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 8846 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16250286 | GTGTGTA | G | downstream_gene_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0001t0018a0001c0001t0037others(2): Show | a0001c0001t0016g0018 a0001c0001t0018g0268 a0001c0001t0018g0269 others(3): Show |
6 | 305 | 0.0197 | -6 | c.*15 others(19): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4381 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10577423 | CTTTTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG01975.hp2 HG02451.hp2 others(22): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0002t0001g0084 a0001c0002t0001g0085 a0001c0002t0001g0086 others(21): Show |
25 | 36 | 0.6944 | -6 | c.889 others(19): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 8/11 | chr19 | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15834439 | AATATAT | A | intron_variant | MODIFIER | HG02886.hp1 HG02970.hp2 NA18940.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0001 a0001c0001t0002g0019 a0001c0001t0002g0090 others(1): Show |
4 | 185 | 0.0216 | -6 | c.427 others(23): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780276 | AATATAT | A | intron_variant | MODIFIER | HG00544.hp2 HG00673.hp2 HG02109.hp2 others(9): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0201 a0001c0001t0001g0304 a0001c0001t0001g0327 others(9): Show |
12 | 256 | 0.0469 | -6 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780304 | TATATAG | T | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01258.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0037 | a0001c0001t0001g0014 a0001c0001t0001g0193 a0001c0001t0001g0200 others(7): Show |
10 | 293 | 0.0341 | -6 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780306 | TATAGAG | T | intron_variant | MODIFIER | HG01993.hp1 NA18971.hp1 NA18977.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(1): Show | a0001c0001t0001g0191 a0001c0001t0001g0202 a0001c0001t0001g0239 others(5): Show |
8 | 290 | 0.0276 | -6 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780308 | TAGAGAG | T | intron_variant | MODIFIER | HG01074.hp2 HG02074.hp1 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0132 a0001c0001t0001g0305 a0001c0001t0003g0020 others(4): Show |
7 | 234 | 0.0299 | -6 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780353 | AGAGAGT | A | intron_variant | MODIFIER | HG00738.hp1 HG01070.hp2 HG01071.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007 | a0001c0001t0004g0131 a0001c0001t0004g0155 a0001c0001t0004g0217 others(3): Show |
6 | 148 | 0.0405 | -6 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780357 | AGTGTGT | A | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0012a0001c0001t0036a0001c0001t0058others(1): Show | a0001c0001t0012g0099 a0001c0001t0012g0107 a0001c0001t0012g0182 others(3): Show |
6 | 81 | 0.0741 | -6 | c.4-2 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223799208 | GACACAC | G | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp2 HG02717.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0012 | a0001c0001t0002g0004 a0001c0001t0002g0080 a0001c0001t0002g0087 others(5): Show |
8 | 42 | 0.1905 | -6 | c.4-2 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223832131 | CTCTCTG | C | intron_variant | MODIFIER | HG00408.hp2 HG00609.hp1 HG00609.hp2 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0043 a0001c0001t0001g0055 a0001c0001t0001g0057 others(33): Show |
36 | 248 | 0.1452 | -6 | c.3+5 others(19): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 935603 | GTTTTTT | G | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG03195.hp1 others(2): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0002a0001c0002t0005a0001c0010t0005 | a0001c0002t0002g0147 a0001c0002t0005g0145 a0001c0002t0005g0146 others(2): Show |
5 | 6 | 0.8333 | -6 | c.67+ others(21): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 969219 | CCTTTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG01243.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0004others(3): Show | a0001c0001t0001g0061 a0001c0002t0002g0225 a0001c0002t0002g0232 others(17): Show |
20 | 148 | 0.1351 | -6 | c.137 others(21): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | chr11 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35583514 | TTCTCTC | T | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01884.hp2 HG02055.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0169 a0001c0001t0002g0171 a0001c0001t0002g0172 others(20): Show |
23 | 90 | 0.2556 | -6 | c.-39 others(17): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3807 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35612880 | GCACACA | G | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00673.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0016 | a0001c0001t0004g0316 a0001c0001t0004g0318 a0001c0001t0004g0319 others(32): Show |
35 | 78 | 0.4487 | -6 | c.525 others(23): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35617991 | CTATGTA | C | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG01123.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0163 a0001c0004t0002g0164 a0001c0004t0002g0165 others(3): Show |
6 | 370 | 0.0162 | -6 | c.526 others(23): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 5/21 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35648743 | AGTGTGT | A | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00544.hp1 others(70): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0002g0001 a0001c0001t0002g0055 a0001c0001t0002g0065 others(69): Show |
73 | 100 | 0.7300 | -6 | c.153 others(25): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35718312 | CTGTGTG | C | intron_variant | MODIFIER | HG00597.hp1 HG01884.hp2 HG02129.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0128 a0001c0001t0002g0177 a0001c0001t0002g0178 others(21): Show |
24 | 143 | 0.1678 | -6 | c.278 others(25): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2M1_chr3_184169855_184189091 | 184174585 | GAAAAAA | G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01069.hp1 HG01071.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0019 others(17): Show |
37 | 112 | 0.3304 | -6 | c.-41 others(15): Show |
AP2M1 | ENSG00000161203.14 | transcript | ENST00000292807.9 | protein_coding | 269 | chr3 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78055016 | GACACAC | G | intron_variant | MODIFIER | HG01884.hp1 HG01943.hp1 HG01978.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0006t0001others(2): Show | a0001c0001t0001g0107 a0001c0001t0001g0120 a0001c0001t0001g0127 others(6): Show |
9 | 17 | 0.5294 | -6 | c.257 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78068358 | AAGAAGG | A | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01884.hp1 others(14): Show |
a0001a0003a0007 | a0001c0004a0001c0005a0003c0009others(1): Show | a0001c0004t0001a0001c0004t0002a0001c0005t0001others(3): Show | a0001c0004t0001g0087 a0001c0004t0002g0006 a0001c0004t0002g0007 others(14): Show |
17 | 138 | 0.1232 | -6 | c.257 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78085037 | CACATAA | C | intron_variant | MODIFIER | HG01884.hp2 HG02723.hp2 HG02818.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0012a0003c0007others(1): Show | a0001c0001t0001a0001c0012t0001a0003c0007t0002others(1): Show | a0001c0001t0001g0076 a0001c0012t0001g0142 a0003c0007t0002g0052 others(9): Show |
12 | 224 | 0.0536 | -6 | c.257 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78166117 | TCACACA | T | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp2 HG01934.hp1 others(16): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0030 a0001c0001t0002g0014 a0001c0001t0002g0019 others(16): Show |
19 | 27 | 0.7037 | -6 | c.116 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78168888 | CTTGACA | C | intron_variant | MODIFIER | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(1): Show |
a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0035 a0003c0008t0002g0036 a0003c0008t0002g0038 others(1): Show |
4 | 224 | 0.0179 | -6 | c.116 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78276880 | AAAGAAG | A | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00642.hp2 others(26): Show |
a0001a0002a0006 | a0001c0001a0001c0004a0001c0006others(2): Show | a0001c0001t0001a0001c0004t0002a0001c0006t0001others(2): Show | a0001c0001t0001g0197 a0001c0001t0001g0198 a0001c0001t0001g0199 others(26): Show |
29 | 224 | 0.1295 | -6 | c.129 others(23): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 1/26 | chr5 | TogoVar |