regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AOPEP_chr9_94721699_95092159 | 94888294 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00621.hp1 others(43): Show |
a0001a0004 | a0001c0001a0001c0015a0001c0016others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0008a0001c0001t0001g0012a0001c0001t0001g0034others(43): Show | 46 | 182 | 0.2528 | 8 | c.136 others(29): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94914523 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00621.hp2 others(46): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0015a0001c0016others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0062others(46): Show | 49 | 182 | 0.2692 | 8 | 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 | 94996350 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01981.hp1 NA18994.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0086 | 2 | 182 | 0.0110 | 8 | c.197 others(27): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 95003142 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02109.hp2 HG02258.hp1 others(8): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0008a0007c0006others(1): Show | a0001c0001t0003a0002c0008t0003a0007c0006t0003others(1): Show | a0001c0001t0003g0060a0001c0001t0003g0061a0001c0001t0003g0107others(8): Show | 11 | 182 | 0.0604 | 8 | c.197 others(27): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 95003165 | T | TGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02970.hp1 HG03195.hp1 NA18906.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0165a0001c0001t0002g0166a0001c0001t0002g0167others(1): Show | 4 | 182 | 0.0220 | 8 | c.197 others(27): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 95008663 | A | AGATAAAG others(1): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02976.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0111a0001c0001t0002g0105a0001c0001t0002g0121 | 3 | 182 | 0.0165 | 8 | c.211 others(27): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 95020918 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(85): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0015a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0016others(85): Show | 88 | 182 | 0.4835 | 8 | c.211 others(29): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 95036702 | C | CTTCTTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG01255.hp2 others(36): Show |
a0001a0002a0004 | a0001c0001a0001c0015a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0015a0001c0001t0001g0016a0001c0001t0001g0029others(36): Show | 39 | 182 | 0.2143 | 8 | c.211 others(29): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 95036702 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(53): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0008a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0012a0001c0001t0001g0041a0001c0001t0001g0047others(53): Show | 56 | 182 | 0.3077 | 8 | c.211 others(29): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 95039736 | C | CTTCATTC others(1): Show |
intron_variant | MODIFIER | HG02109.hp2 HG03098.hp1 HG03486.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0015a0001c0001t0001g0085a0001c0001t0002g0077others(3): Show | 6 | 182 | 0.0330 | 8 | c.211 others(29): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 95041444 | G | GGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(34): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0015a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0012a0001c0001t0001g0015a0001c0001t0001g0038others(34): Show | 37 | 182 | 0.2033 | 8 | c.211 others(29): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200613027 | T | TGAGAGAG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp2 others(82): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0005a0001c0014others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(11): Show | a0001c0001t0001g0237a0001c0001t0001g0267a0001c0001t0001g0282others(82): Show | 85 | 370 | 0.2297 | 8 | c.144 others(25): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 14/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200621676 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp1 others(103): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0008a0001c0019others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0117a0001c0001t0001g0120a0001c0001t0001g0121others(102): Show | 106 | 370 | 0.2865 | 8 | c.200 others(25): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 18/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200630548 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00639.hp2 HG01123.hp2 others(49): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0008a0001c0020others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0008t0001others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0009others(49): Show | 52 | 370 | 0.1405 | 8 | c.222 others(27): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200663545 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02280.hp2 others(12): Show |
a0001a0017 | a0001c0001a0001c0014a0017c0032 | a0001c0001t0001a0001c0014t0001a0017c0032t0001 | a0001c0001t0001g0003a0001c0001t0001g0205a0001c0001t0001g0216others(11): Show | 15 | 370 | 0.0405 | 8 | c.354 others(25): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 31/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AP1AR_chr4_112226787_112278110 | 112269093 | G | GATATATA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG01069.hp2 HG01070.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0021a0001c0001t0026 | a0001c0001t0006g0003a0001c0001t0006g0005a0001c0001t0006g0010others(12): Show | 22 | 398 | 0.0553 | 8 | c.*69 others(17): Show |
AP1AR | ENSG00000138660.12 | transcript | ENST00000274000.10 | protein_coding | 10/10 | 703 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
AP1B1_chr22_29322680_29393570 | 29366833 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01496.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002a0001c0003t0003others(1): Show | a0001c0001t0001g0196a0001c0003t0002g0096a0001c0003t0003g0237others(1): Show | 4 | 378 | 0.0106 | 8 | c.37+ others(21): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2/22 | chr22 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29390582 | T | TTTTATTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00558.hp2 others(77): Show |
a0001a0007 | a0001c0001a0001c0003a0007c0013 | a0001c0001t0001a0001c0001t0008a0001c0001t0015others(4): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0038others(74): Show | 80 | 378 | 0.2116 | 8 | c.-21 others(19): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2013 | chr22 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71768500 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00738.hp1 HG00741.hp1 others(14): Show |
a0002 | a0002c0002 | a0002c0002t0006a0002c0002t0034 | a0002c0002t0006g0045a0002c0002t0006g0046a0002c0002t0006g0099others(14): Show | 17 | 320 | 0.0531 | 8 | c.642 others(25): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 6/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71794835 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01257.hp2 HG01978.hp1 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0005 | a0001c0001t0007a0001c0001t0009a0002c0002t0001others(1): Show | a0001c0001t0007g0080a0001c0001t0007g0087a0001c0001t0009g0001others(5): Show | 9 | 320 | 0.0281 | 8 | c.-3- others(23): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 1/22 | chr16 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16215194 | C | CAGGGGCG others(1): Show |
intron_variant | MODIFIER | HG01169.hp1 HG01433.hp2 HG03688.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0008a0001c0001t0131others(5): Show | a0001c0001t0004g0256a0001c0001t0008g0260a0001c0001t0131g0236others(6): Show | 9 | 308 | 0.0292 | 8 | c.546 others(25): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | chr19 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16239239 | C | CTTTTTTT others(1): Show |
3_prime_UTR_variant | MODIFIER | HG01934.hp1 HG02451.hp2 HG02559.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0036a0001c0001t0096others(2): Show | a0001c0001t0027g0008a0001c0001t0027g0191a0001c0001t0036g0277others(4): Show | 7 | 308 | 0.0227 | 8 | c.*48 others(19): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 4845 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AP1M1_chr19_16192911_16250906 | 16244837 | A | AAAATAAA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG03098.hp2 NA18943.hp2 NA18983.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0033a0001c0001t0115a0001c0001t0144others(1): Show | a0001c0001t0033g0264a0001c0001t0033g0276a0001c0001t0115g0224others(2): Show | 5 | 308 | 0.0162 | 8 | c.*10 others(21): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 10429 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AP1M1_chr19_16192911_16250906 | 16250292 | A | ATGTGTGT others(1): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(64): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0025a0001c0001t0033a0001c0001t0039others(39): Show | a0001c0001t0025g0010a0001c0001t0033g0276a0001c0001t0039g0084others(64): Show | 67 | 308 | 0.2175 | 8 | c.*15 others(21): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4387 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10570547 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 NA18747.hp2 NA18939.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0001g0220a0001c0002t0001g0117a0001c0002t0002g0112others(3): Show | 6 | 394 | 0.0152 | 8 | c.*25 others(19): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2123 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10585294 | A | AGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02258.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0003t0001g0199others(3): Show | 6 | 394 | 0.0152 | 8 | c.43- others(23): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
AP1S2_chrX_15820806_15859813 | 15834439 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02132.hp1 HG03490.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0011a0001c0001t0002g0043a0001c0001t0002g0045others(6): Show | 12 | 318 | 0.0377 | 8 | c.427 others(25): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223770497 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(112): Show |
a0001a0004a0005 | a0001c0001a0001c0003a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(28): Show | a0001c0001t0001g0032a0001c0001t0001g0043a0001c0001t0001g0046others(112): Show | 115 | 340 | 0.3382 | 8 | c.292 others(25): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223774372 | T | TAATAAAT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01071.hp2 HG01255.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(6): Show | a0001c0001t0004g0253a0001c0001t0005g0269a0001c0001t0006g0329others(7): Show | 10 | 340 | 0.0294 | 8 | c.291 others(25): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780276 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01258.hp1 HG02280.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0126a0001c0001t0001g0133a0001c0001t0002g0051others(5): Show | 8 | 340 | 0.0235 | 8 | c.4-2 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223799208 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02698.hp2 HG03225.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0084a0001c0001t0001g0250a0001c0001t0001g0302others(6): Show | 9 | 340 | 0.0265 | 8 | c.4-2 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223807867 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0330a0001c0001t0003g0056a0001c0001t0005g0328others(5): Show | 8 | 340 | 0.0235 | 8 | c.3+2 others(23): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223832135 | C | CTCTGTGT others(1): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02970.hp2 NA18946.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0195a0001c0001t0002g0174a0001c0001t0002g0175 | 3 | 340 | 0.0088 | 8 | c.3+5 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223832135 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01255.hp1 HG02055.hp2 others(15): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0204a0001c0001t0001g0205a0001c0001t0001g0206others(15): Show | 18 | 340 | 0.0529 | 8 | c.3+5 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223832352 | C | CACAAACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(176): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0001a0001c0001t0001g0032a0001c0001t0001g0043others(175): Show | 179 | 340 | 0.5265 | 8 | c.3+5 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223833241 | A | AATAAATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00544.hp2 others(87): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0032a0001c0001t0001g0070others(86): Show | 90 | 340 | 0.2647 | 8 | c.3+4 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223833241 | A | AATACATA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00639.hp1 HG01070.hp2 others(46): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0195a0001c0001t0001g0197a0001c0001t0001g0201others(46): Show | 49 | 340 | 0.1441 | 8 | c.3+4 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223833882 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG01123.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0002g0087a0001c0001t0002g0309a0001c0001t0002g0310others(10): Show | 13 | 340 | 0.0382 | 8 | c.3+3 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49772255 | T | TTTGTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00621.hp2 HG01074.hp2 others(51): Show |
a0001 | a0001c0001a0001c0005a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0176others(48): Show | 54 | 342 | 0.1579 | 8 | c.67+ others(23): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35583514 | T | TTCTCTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG02559.hp1 HG02647.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0187a0001c0002t0001g0191a0001c0002t0001g0201others(3): Show | 6 | 372 | 0.0161 | 8 | c.-39 others(19): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3807 | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35583514 | T | TTTTCTCT others(1): Show |
upstream_gene_variant | MODIFIER | HG02055.hp1 HG02896.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0194a0001c0002t0001g0229a0001c0002t0001g0266others(2): Show | 5 | 372 | 0.0134 | 8 | c.-39 others(19): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3807 | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35648743 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00738.hp1 HG00738.hp2 others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(4): Show | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0128others(63): Show | 66 | 372 | 0.1774 | 8 | c.153 others(27): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35656268 | T | TAGGGGGC others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp1 others(154): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(10): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0053others(152): Show | 157 | 372 | 0.4220 | 8 | c.179 others(27): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35720545 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00673.hp1 HG01081.hp2 HG02055.hp2 others(3): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0003a0001c0001t0017others(1): Show | a0001c0001t0002g0113a0001c0001t0002g0170a0001c0001t0003g0036others(3): Show | 6 | 372 | 0.0161 | 8 | c.278 others(27): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35720573 | A | ATATATAT others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01256.hp2 HG01258.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0021a0001c0001t0003g0042a0001c0001t0005g0133others(5): Show | 8 | 372 | 0.0215 | 8 | c.278 others(27): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP3B1_chr5_77997326_78299698 | 78018671 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03516.hp2 NA20129.hp2 |
a0001a0006 | a0001c0004a0001c0005a0006c0013 | a0001c0004t0002a0001c0005t0002a0006c0013t0002 | a0001c0004t0002g0006a0001c0005t0002g0187a0006c0013t0002g0193 | 3 | 226 | 0.0133 | 8 | c.299 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 25/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78110684 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02135.hp1 NA19002.hp2 NA19043.hp2 |
a0001a0003 | a0001c0002a0003c0008 | a0001c0002t0002a0003c0008t0002 | a0001c0002t0002g0158a0001c0002t0002g0169a0003c0008t0002g0038 | 3 | 226 | 0.0133 | 8 | c.225 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 19/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78134149 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01928.hp1 HG02083.hp2 others(13): Show |
a0001a0003 | a0001c0002a0001c0004a0003c0007 | a0001c0002t0001a0001c0002t0002a0001c0004t0002others(1): Show | a0001c0002t0001g0184a0001c0002t0002g0064a0001c0002t0002g0137others(13): Show | 16 | 226 | 0.0708 | 8 | c.165 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78184686 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01884.hp2 NA18522.hp2 NA18906.hp2 others(2): Show |
a0001a0003 | a0001c0004a0003c0008 | a0001c0004t0002a0003c0008t0002 | a0001c0004t0002g0006a0003c0008t0002g0035a0003c0008t0002g0036others(2): Show | 5 | 226 | 0.0221 | 8 | c.787 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | ||||||
AP3B1_chr5_77997326_78299698 | 78202552 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01070.hp1 HG01106.hp1 others(18): Show |
a0001a0002 | a0001c0002a0001c0012a0002c0003 | a0001c0002t0001a0001c0002t0002a0001c0012t0001others(1): Show | a0001c0002t0001g0139a0001c0002t0001g0180a0001c0002t0002g0131others(18): Show | 21 | 226 | 0.0929 | 8 | c.786 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar |