view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AOX1_chr2_200581014_200676495 | 200634164 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG01099.hp2 HG01106.hp2 others(11): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0004others(2): Show | a0001c0001t0001g0225a0001c0001t0001g0228a0001c0001t0001g0273others(11): Show | 14 | 370 | 0.0378 | -8 | c.222 others(25): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AOX1_chr2_200581014_200676495 | 200659782 | TCTCTCAC others(1): Show |
T | intron_variant | MODIFIER | HG00609.hp2 HG00733.hp1 HG01884.hp1 others(3): Show |
a0001a0005a0018 | a0001c0001a0005c0007a0018c0012 | a0001c0001t0001a0001c0001t0002a0005c0007t0002others(1): Show | a0001c0001t0001g0120a0001c0001t0002g0109a0001c0001t0002g0365others(3): Show | 6 | 370 | 0.0162 | -8 | c.330 others(25): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29366833 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00642.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0027a0001c0001t0001g0028a0001c0001t0001g0037others(7): Show | 10 | 378 | 0.0265 | -8 | c.37+ others(21): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2/22 | chr22 | TogoVar | |||||||
AP1B1_chr22_29322680_29393570 | 29369392 | GAAGGAAT others(1): Show |
G | intron_variant | MODIFIER | HG01192.hp1 HG02809.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0069a0001c0001t0007g0005a0001c0001t0007g0070others(1): Show | 5 | 378 | 0.0132 | -8 | c.-27 others(25): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 1/22 | chr22 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71735632 | GGCAACAG others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp2 HG00642.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0228a0001c0001t0002g0278a0001c0001t0002g0279others(9): Show | 12 | 320 | 0.0375 | -8 | c.226 others(25): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | |||||||
AP1G1_chr16_71724000_71813834 | 71736551 | ATTATTTA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(58): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0002g0307a0001c0001t0004g0017a0001c0001t0004g0026others(57): Show | 61 | 320 | 0.1906 | -8 | c.226 others(27): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | |||||||
AP1M1_chr19_16192911_16250906 | 16215463 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01361.hp1 HG02615.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0159others(4): Show | a0001c0001t0004g0241a0001c0001t0009g0214a0001c0001t0009g0215others(8): Show | 11 | 308 | 0.0357 | -8 | c.546 others(25): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16222200 | TTATTATT others(1): Show |
T | intron_variant | MODIFIER | HG01192.hp1 HG02155.hp2 HG02976.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0005a0001c0002t0058a0001c0002t0060others(2): Show | a0001c0002t0005g0138a0001c0002t0058g0166a0001c0002t0060g0178others(2): Show | 5 | 308 | 0.0162 | -8 | c.547 others(25): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16240266 | GTGTGTGT others(1): Show |
G | 3_prime_UTR_variant | MODIFIER | HG02615.hp1 HG02895.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0037a0001c0001t0115 | a0001c0001t0037g0233a0001c0001t0037g0234a0001c0001t0115g0224 | 3 | 308 | 0.0097 | -8 | c.*58 others(19): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 5839 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16250284 | GTGTGTGT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG01361.hp1 HG02145.hp1 HG02615.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0009a0001c0001t0037others(4): Show | a0001c0001t0006g0001a0001c0001t0006g0024a0001c0001t0006g0025others(10): Show | 16 | 308 | 0.0520 | -8 | c.*15 others(21): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4379 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10570734 | AAAGAAAA others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(47): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0016others(43): Show | 50 | 394 | 0.1269 | -8 | c.*23 others(19): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1936 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10584673 | AAGGAAGG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(175): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0266a0001c0002t0001g0018a0001c0002t0001g0083others(144): Show | 178 | 394 | 0.4518 | -8 | c.43- others(21): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10585239 | AGAAAGAA others(1): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00673.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(1): Show | a0001c0001t0001g0101a0001c0001t0001g0337a0001c0001t0001g0338others(20): Show | 30 | 394 | 0.0761 | -8 | c.43- others(23): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
AP1M2_chr19_10567671_10592312 | 10585276 | GAAGAAAA others(1): Show |
G | intron_variant | MODIFIER | HG02071.hp1 HG02451.hp1 HG02559.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0301a0001c0001t0001g0302others(3): Show | 8 | 394 | 0.0203 | -8 | c.43- others(23): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
AP1S2_chrX_15820806_15859813 | 15834439 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG01255.hp1 HG01261.hp1 HG02040.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0003a0001c0001t0002g0015a0001c0001t0002g0074others(3): Show | 16 | 318 | 0.0503 | -8 | c.427 others(25): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 4/5 | chrX | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223774372 | TAATAAAT others(1): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00639.hp1 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(10): Show | a0001c0001t0001g0001a0001c0001t0003g0010a0001c0001t0003g0011others(53): Show | 57 | 340 | 0.1677 | -8 | c.291 others(25): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 3/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780276 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG01071.hp2 HG01243.hp1 HG02896.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0022others(2): Show | a0001c0001t0001g0055a0001c0001t0001g0084a0001c0001t0001g0282others(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 | 223780302 | TATATATA others(1): Show |
T | intron_variant | MODIFIER | HG02165.hp1 NA18946.hp2 NA18970.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0001g0194a0001c0001t0001g0195a0001c0001t0003g0052others(4): Show | 7 | 340 | 0.0206 | -8 | c.4-2 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780304 | TATATAGA others(1): Show |
T | intron_variant | MODIFIER | HG03130.hp2 HG03490.hp2 NA18951.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0205a0001c0001t0002g0038a0001c0001t0002g0153others(4): Show | 7 | 340 | 0.0206 | -8 | c.4-2 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223780308 | TAGAGAGA others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG01981.hp2 HG03041.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0138a0001c0001t0003g0024a0001c0001t0004g0009others(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 | 223832131 | CTCTCTGT others(1): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02293.hp1 HG03017.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007 | a0001c0001t0001g0131a0001c0001t0001g0132a0001c0001t0005g0083others(1): Show | 4 | 340 | 0.0118 | -8 | c.3+5 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223832135 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0026others(2): Show | a0001c0001t0005g0283a0001c0001t0008g0243a0001c0001t0026g0241others(3): Show | 6 | 340 | 0.0177 | -8 | c.3+5 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223833882 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0015others(3): Show | a0001c0001t0002g0189a0001c0001t0008g0187a0001c0001t0008g0188others(4): Show | 7 | 340 | 0.0206 | -8 | c.3+3 others(21): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | |||||||
AP1S3_chr2_223750326_223842582 | 223838221 | CATTTATT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp1 others(133): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0046a0001c0001t0001g0050a0001c0001t0001g0057others(133): Show | 136 | 340 | 0.4000 | -8 | c.-77 others(17): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 640 | chr2 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35583514 | TTCTCTCT others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00597.hp2 HG02886.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0073a0001c0001t0002g0358a0001c0001t0002g0359others(7): Show | 10 | 372 | 0.0269 | -8 | c.-39 others(19): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3807 | chr17 | TogoVar | |||||||
AP2B1_chr17_35582322_35731413 | 35612880 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG01168.hp2 HG01169.hp2 others(7): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0004a0001c0001t0007a0001c0001t0009others(1): Show | a0001c0001t0004g0160a0001c0001t0004g0349a0001c0001t0004g0356others(7): Show | 10 | 372 | 0.0269 | -8 | c.525 others(25): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35648524 | GCATACAT others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp1 others(279): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(19): Show | a0001c0001t0002g0001a0001c0001t0002g0053a0001c0001t0002g0063others(277): Show | 282 | 372 | 0.7581 | -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 | 35648743 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(69): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(3): Show | a0001c0001t0002g0002a0001c0001t0002g0170a0001c0001t0002g0171others(68): Show | 72 | 372 | 0.1936 | -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 | 35718312 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01070.hp1 HG01071.hp1 others(42): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0007 | a0001c0001t0002a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0002g0090a0001c0001t0002g0107a0001c0001t0002g0357others(42): Show | 45 | 372 | 0.1210 | -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 | 78055016 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG02135.hp2 HG02451.hp1 others(3): Show |
a0001a0007 | a0001c0001a0001c0004a0001c0005others(1): Show | a0001c0001t0001a0001c0004t0002a0001c0005t0002others(1): Show | a0001c0001t0001g0104a0001c0001t0001g0211a0001c0004t0002g0185others(3): Show | 6 | 226 | 0.0266 | -8 | c.257 others(29): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 22/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78126504 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00639.hp1 others(47): Show |
a0001a0004a0006others(1): Show | a0001c0002a0001c0004a0001c0005others(3): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(6): Show | a0001c0002t0001g0138a0001c0002t0001g0139a0001c0002t0001g0180others(47): Show | 50 | 226 | 0.2212 | -8 | c.196 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 17/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78135540 | TTAAATAA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00597.hp2 others(102): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(102): Show | 105 | 226 | 0.4646 | -8 | c.165 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 15/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78166117 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp1 HG00741.hp1 others(29): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0009a0001c0001t0001g0013a0001c0001t0001g0075others(29): Show | 32 | 226 | 0.1416 | -8 | c.116 others(25): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 11/26 | chr5 | TogoVar | |||||||
AP3B1_chr5_77997326_78299698 | 78202552 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG01168.hp2 HG01258.hp1 others(35): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0010a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0013a0001c0001t0001g0029a0001c0001t0001g0032others(35): Show | 38 | 226 | 0.1681 | -8 | c.786 others(27): Show |
AP3B1 | ENSG00000132842.15 | transcript | ENST00000255194.11 | protein_coding | 7/26 | chr5 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82665376 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG02300.hp2 HG02615.hp2 others(9): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0017t0001 | a0001c0001t0001g0159a0001c0001t0001g0194a0001c0001t0001g0202others(9): Show | 12 | 368 | 0.0326 | -8 | c.197 others(23): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 16/26 | chr15 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82683047 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp1 others(74): Show |
a0001a0007 | a0001c0001a0001c0013a0001c0014others(1): Show | a0001c0001t0001a0001c0013t0001a0001c0014t0001others(1): Show | a0001c0001t0001g0027a0001c0001t0001g0033a0001c0001t0001g0157others(74): Show | 77 | 368 | 0.2092 | -8 | c.361 others(25): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 4/26 | chr15 | TogoVar | |||||||
AP3B2_chr15_82654281_82714875 | 82703434 | GCTTGCCT others(1): Show |
G | intron_variant | MODIFIER | HG02818.hp1 HG03098.hp1 NA18906.hp1 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0028a0001c0005t0001g0301a0001c0005t0001g0302others(1): Show | 4 | 368 | 0.0109 | -8 | c.113 others(25): Show |
AP3B2 | ENSG00000103723.17 | transcript | ENST00000535359.6 | protein_coding | 1/26 | chr15 | TogoVar | |||||||
AP3D1_chr19_2095988_2156566 | 2102728 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(194): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0008others(188): Show | 197 | 406 | 0.4852 | -8 | c.355 others(25): Show |
AP3D1 | ENSG00000065000.20 | transcript | ENST00000643116.3 | protein_coding | 31/31 | chr19 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74115387 | GATAAATA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG00673.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0014others(2): Show | a0001c0001t0003g0008a0001c0001t0003g0011a0001c0001t0003g0012others(36): Show | 50 | 334 | 0.1497 | -8 | c.*84 others(19): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 4867 | chr10 | TogoVar | |||||||
AP3M1_chr10_74115255_74155828 | 74149267 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG00738.hp1 HG01346.hp1 HG01884.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0023a0001c0001t0002g0128a0001c0001t0002g0129others(7): Show | 11 | 334 | 0.0329 | -8 | c.-4+ others(23): Show |
AP3M1 | ENSG00000185009.13 | transcript | ENST00000355264.9 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89844209 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00741.hp1 HG01258.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0035a0001c0001t0041others(1): Show | a0001c0001t0003g0092a0001c0001t0003g0094a0001c0001t0003g0103others(15): Show | 18 | 312 | 0.0577 | -8 | c.346 others(25): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89844265 | TTCTTTCT others(1): Show |
T | intron_variant | MODIFIER | HG00733.hp1 HG01928.hp1 HG02129.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(1): Show | a0001c0001t0001g0244a0001c0001t0002g0016a0001c0001t0002g0152others(11): Show | 14 | 312 | 0.0449 | -8 | c.346 others(25): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89847375 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG02559.hp2 HG02970.hp2 HG03209.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0016a0001c0001t0044a0001c0001t0045others(2): Show | a0001c0001t0016g0301a0001c0001t0044g0185a0001c0001t0045g0303others(3): Show | 6 | 312 | 0.0192 | -8 | c.346 others(25): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89858455 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG03209.hp2 HG03490.hp1 HG03491.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0016 | a0001c0001t0001g0039a0001c0001t0003g0069a0001c0001t0016g0301 | 3 | 312 | 0.0096 | -8 | c.345 others(27): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 4/5 | chr15 | TogoVar | |||||||
AP3S2_chr15_89825599_89898994 | 89894981 | TATATATA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(156): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(22): Show | a0001c0001t0001g0124a0001c0001t0001g0153a0001c0001t0001g0154others(156): Show | 159 | 312 | 0.5096 | -8 | c.-10 others(19): Show |
AP3S2 | ENSG00000157823.17 | transcript | ENST00000336418.9 | protein_coding | 988 | chr15 | TogoVar | |||||||
AP4E1_chr15_50903683_51010895 | 50919535 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00423.hp2 others(105): Show |
a0001a0004a0006others(1): Show | a0001c0001a0004c0005a0006c0012others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0019others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0195others(103): Show | 108 | 392 | 0.2755 | -8 | c.346 others(25): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4E1_chr15_50903683_51010895 | 50919570 | ATAAATAA others(1): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0027 | a0001c0001t0001g0223a0001c0001t0001g0225a0001c0001t0027g0224 | 3 | 392 | 0.0077 | -8 | c.346 others(25): Show |
AP4E1 | ENSG00000081014.11 | transcript | ENST00000261842.10 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31049465 | ATATATAT others(1): Show |
A | intron_variant | MODIFIER | HG02683.hp1 HG03540.hp1 HG04204.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0093a0001c0001t0007g0267a0001c0001t0007g0268 | 3 | 346 | 0.0087 | -8 | c.-71 others(27): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31058519 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02572.hp2 HG02683.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0014others(1): Show | a0001c0001t0001g0005a0001c0001t0007g0268a0001c0001t0014g0158others(3): Show | 6 | 346 | 0.0173 | -8 | c.-71 others(25): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
AP4S1_chr14_31020649_31101450 | 31058527 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00673.hp2 others(43): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(2): Show | a0001c0001t0001g0115a0001c0001t0001g0118a0001c0001t0001g0251others(43): Show | 46 | 346 | 0.1330 | -8 | c.-71 others(25): Show |
AP4S1 | ENSG00000100478.16 | transcript | ENST00000542754.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr14 | TogoVar |