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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANXA10_chr4_168087537_168192736 | 168188560 | AATATATA others(9): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG01106.hp2 HG02486.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0013a0001c0003t0001g0021a0001c0003t0001g0032 | 3 | 284 | 0.0106 | -16 | c.*11 others(27): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 825 | chr4 | TogoVar | ||||||
ANXA10_chr4_168087537_168192736 | 168188583 | ATATATAT others(9): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG02630.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0041a0001c0001t0001g0209others(5): Show | 9 | 284 | 0.0317 | -16 | c.*11 others(27): Show |
ANXA10 | ENSG00000109511.12 | transcript | ENST00000359299.8 | protein_coding | 848 | chr4 | TogoVar | ||||||
ANXA13_chr8_123675794_123742393 | 123722342 | AAAAGAAA others(9): Show |
A | intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0082 | 1 | 374 | 0.0027 | -16 | c.16- others(31): Show |
ANXA13 | ENSG00000104537.17 | transcript | ENST00000419625.6 | protein_coding | 1/10 | chr8 | TogoVar | ||||||
ANXA2R_chr5_43034371_43045319 | 43043732 | ATATATAA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG00735.hp1 HG02015.hp1 NA18612.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 7 | 296 | 0.0237 | -16 | c.-37 others(27): Show |
ANXA2R | ENSG00000177721.5 | transcript | ENST00000616064.2 | protein_coding | 3414 | chr5 | TogoVar | ||||||
ANXA2R_chr5_43034371_43045319 | 43043822 | AATATATA others(9): Show |
A | upstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 296 | 0.0034 | -16 | c.-37 others(27): Show |
ANXA2R | ENSG00000177721.5 | transcript | ENST00000616064.2 | protein_coding | 3504 | chr5 | TogoVar | ||||||
ANXA2_chr15_60342151_60402986 | 60398783 | CGTGTGTG others(9): Show |
C | upstream_gene_variant | MODIFIER | HG02717.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 | 1 | 334 | 0.0030 | -16 | c.-86 others(25): Show |
ANXA2 | ENSG00000182718.18 | transcript | ENST00000451270.7 | protein_coding | 798 | chr15 | TogoVar | ||||||
ANXA4_chr2_69737134_69832112 | 69757260 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG01433.hp1 HG02451.hp2 HG02622.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0011a0002c0002t0002others(1): Show | a0001c0001t0004g0131a0001c0001t0011g0130a0002c0002t0002g0208others(1): Show | 4 | 346 | 0.0116 | -16 | c.-47 others(35): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANXA4_chr2_69737134_69832112 | 69757262 | ATATATTT others(9): Show |
A | intron_variant | MODIFIER | HG01243.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0132 | 1 | 346 | 0.0029 | -16 | c.-47 others(35): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANXA4_chr2_69737134_69832112 | 69770736 | AACACACA others(9): Show |
A | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0300a0001c0001t0007g0308 | 2 | 346 | 0.0058 | -16 | c.-46 others(35): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ANXA4_chr2_69737134_69832112 | 69814784 | GTGTGTGT others(9): Show |
G | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp1 HG01884.hp2 others(12): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0006a0001c0001t0021a0002c0002t0004others(1): Show | a0001c0001t0006g0010a0001c0001t0006g0012a0001c0001t0006g0016others(12): Show | 15 | 346 | 0.0434 | -16 | c.535 others(33): Show |
ANXA4 | ENSG00000196975.16 | transcript | ENST00000394295.6 | protein_coding | 8/12 | chr2 | TogoVar | ||||||
ANXA5_chr4_121662946_121701980 | 121674223 | AGGGAGGG others(9): Show |
A | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01106.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002 | a0001c0001t0002g0070a0001c0001t0002g0071a0002c0002t0002g0068others(1): Show | 4 | 338 | 0.0118 | -16 | c.532 others(33): Show |
ANXA5 | ENSG00000164111.15 | transcript | ENST00000296511.10 | protein_coding | 8/12 | chr4 | TogoVar | ||||||
ANXA6_chr5_151095706_151162779 | 151154295 | GTATATAT others(9): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00438.hp1 others(164): Show |
a0001a0005a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0008a0001c0001t0001g0009a0001c0001t0001g0060others(151): Show | 167 | 408 | 0.4093 | -16 | c.-26 others(33): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ANXA6_chr5_151095706_151162779 | 151154317 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228a0001c0001t0001g0229 | 2 | 408 | 0.0049 | -16 | c.-26 others(33): Show |
ANXA6 | ENSG00000197043.15 | transcript | ENST00000354546.10 | protein_coding | 1/25 | chr5 | TogoVar | ||||||
ANXA7_chr10_73370101_73419058 | 73373994 | CAAAAAAA others(9): Show |
C | downstream_gene_variant | MODIFIER | HG03225.hp1 NA18967.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0048a0001c0002t0002g0234 | 2 | 264 | 0.0076 | -16 | c.*20 others(27): Show |
ANXA7 | ENSG00000138279.16 | transcript | ENST00000372921.10 | protein_coding | 1106 | chr10 | TogoVar | ||||||
ANXA7_chr10_73370101_73419058 | 73390707 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(65): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0008 | a0001c0002t0002g0008a0001c0002t0002g0009a0001c0002t0002g0010others(59): Show | 68 | 264 | 0.2576 | -16 | c.436 others(33): Show |
ANXA7 | ENSG00000138279.16 | transcript | ENST00000372921.10 | protein_coding | 5/12 | chr10 | TogoVar | ||||||
ANXA8_chr10_47462993_47489115 | 47472364 | AGGTAGCC others(9): Show |
A | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 | 1 | 412 | 0.0024 | -16 | c.743 others(31): Show |
ANXA8 | ENSG00000265190.7 | transcript | ENST00000585281.6 | protein_coding | 9/11 | chr10 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36517931 | CCACACAC others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(57): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0012others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0076a0001c0001t0001g0084a0001c0001t0001g0086others(57): Show | 60 | 306 | 0.1961 | -16 | c.159 others(35): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 20/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36563147 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG01358.hp1 HG01943.hp1 others(21): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0018others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0018t0001others(4): Show | a0001c0001t0001g0083a0001c0001t0001g0102a0001c0001t0001g0103others(21): Show | 24 | 306 | 0.0784 | -16 | c.102 others(37): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 13/20 | chr7 | TogoVar | ||||||
AOAH_chr7_36507941_36729494 | 36716970 | TAATAAAT others(9): Show |
T | intron_variant | MODIFIER | HG02165.hp2 HG03471.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0118a0002c0004t0001g0217 | 2 | 306 | 0.0065 | -16 | c.127 others(33): Show |
AOAH | ENSG00000136250.12 | transcript | ENST00000617537.5 | protein_coding | 1/20 | chr7 | TogoVar | ||||||
AOC1_chr7_150847517_150866504 | 150853661 | CTATATAT others(9): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp2 others(69): Show |
a0001a0003a0004others(2): Show | a0001c0003a0003c0004a0003c0005others(7): Show | a0001c0003t0003a0003c0004t0002a0003c0005t0002others(7): Show | a0001c0003t0003g0004a0003c0004t0002g0003a0003c0004t0002g0014others(21): Show | 72 | 420 | 0.1714 | -16 | c.-17 others(33): Show |
AOC1 | ENSG00000002726.21 | transcript | ENST00000360937.9 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 94885348 | CAAAAAAA others(9): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG06807.hp2 NA18951.hp2 others(1): Show |
a0001 | a0001c0001a0001c0016 | a0001c0001t0002a0001c0001t0003a0001c0016t0001 | a0001c0001t0002g0007a0001c0001t0002g0160a0001c0001t0003g0107others(1): Show | 4 | 182 | 0.0220 | -16 | c.136 others(37): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOPEP_chr9_94721699_95092159 | 95042327 | AATAAATA others(9): Show |
A | intron_variant | MODIFIER | NA18966.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 182 | 0.0055 | -16 | c.211 others(37): Show |
AOPEP | ENSG00000148120.19 | transcript | ENST00000375315.8 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200630548 | GAGGAAGG others(9): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp2 HG01109.hp1 others(16): Show |
a0001a0002a0008others(2): Show | a0001c0001a0002c0002a0008c0016others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0002others(3): Show | a0001c0001t0001g0170a0001c0001t0001g0205a0001c0001t0001g0257others(16): Show | 19 | 370 | 0.0514 | -16 | c.222 others(35): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 20/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200638665 | GTTATGTG others(9): Show |
G | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0005 | a0001c0005t0006 | a0001c0005t0006g0075 | 1 | 370 | 0.0027 | -16 | c.256 others(33): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 23/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AOX1_chr2_200581014_200676495 | 200659812 | ACACACAC others(9): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG02895.hp1 HG02976.hp2 others(1): Show |
a0003 | a0003c0006 | a0003c0006t0001 | a0003c0006t0001g0093a0003c0006t0001g0095a0003c0006t0001g0105others(1): Show | 4 | 370 | 0.0108 | -16 | c.330 others(33): Show |
AOX1 | ENSG00000138356.14 | transcript | ENST00000374700.7 | protein_coding | 28/34 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AP1B1_chr22_29322680_29393570 | 29330970 | CCTCGGTG others(9): Show |
C | intron_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0353 | 1 | 378 | 0.0027 | -16 | c.252 others(33): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 19/22 | chr22 | TogoVar | ||||||
AP1B1_chr22_29322680_29393570 | 29366833 | GACACACA others(9): Show |
G | intron_variant | MODIFIER | HG02129.hp2 HG02717.hp1 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0002 | a0001c0001t0001g0121a0001c0004t0002g0024 | 2 | 378 | 0.0053 | -16 | c.37+ others(29): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 2/22 | chr22 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71736551 | ATTATTTA others(9): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0061a0001c0001t0004g0315 | 2 | 320 | 0.0063 | -16 | c.226 others(35): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 21/22 | chr16 | TogoVar | ||||||
AP1G1_chr16_71724000_71813834 | 71809220 | TGGGGGGT others(9): Show |
T | upstream_gene_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0043 | 1 | 320 | 0.0031 | -16 | c.-47 others(25): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 387 | chr16 | TogoVar | ||||||
AP1M1_chr19_16192911_16250906 | 16201388 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0153a0001c0001t0165 | a0001c0001t0153g0033a0001c0001t0165g0032 | 2 | 308 | 0.0065 | -16 | c.43- others(31): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16231297 | AAAAAAAA others(9): Show |
A | intron_variant | MODIFIER | NA19089.hp1 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0145 | 1 | 308 | 0.0033 | -16 | c.104 others(35): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP1M1_chr19_16192911_16250906 | 16239239 | CTTTTTTT others(9): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00735.hp2 others(56): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0019others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0037others(48): Show | 59 | 308 | 0.1916 | -16 | c.*48 others(27): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 4829 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AP1M1_chr19_16192911_16250906 | 16240258 | GTGTGTGT others(9): Show |
G | 3_prime_UTR_variant | MODIFIER | HG00738.hp2 HG01074.hp2 HG01123.hp1 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0012a0001c0002t0045others(1): Show | a0001c0002t0007g0092a0001c0002t0007g0106a0001c0002t0007g0110others(8): Show | 11 | 308 | 0.0357 | -16 | c.*58 others(27): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 12/12 | 5839 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
AP1M1_chr19_16192911_16250906 | 16250276 | GTGTGTGT others(9): Show |
G | downstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 308 | 0.0033 | -16 | c.*15 others(29): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 4371 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10585276 | GAAGAAAA others(9): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG02109.hp1 HG02683.hp2 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0029a0001c0001t0001g0033a0001c0001t0001g0203others(4): Show | 9 | 394 | 0.0228 | -16 | c.43- others(31): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
AP1M2_chr19_10567671_10592312 | 10585283 | AAAAGAAA others(9): Show |
A | intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0250 | 1 | 394 | 0.0025 | -16 | c.43- others(31): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223756276 | GCAGTGAC others(9): Show |
G | 3_prime_UTR_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0051 | a0001c0001t0051g0256 | 1 | 340 | 0.0029 | -16 | c.*24 others(27): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 5/5 | 2423 | chr2 | TogoVar | |||||
AP1S3_chr2_223750326_223842582 | 223780296 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0068 | a0001c0001t0068g0173 | 1 | 340 | 0.0029 | -16 | c.4-2 others(29): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780302 | TATATATA others(9): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02155.hp2 |
a0001 | a0001c0001 | a0001c0001t0050a0001c0001t0058 | a0001c0001t0050g0077a0001c0001t0058g0100 | 2 | 340 | 0.0059 | -16 | c.4-2 others(29): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780304 | TATATAGA others(9): Show |
T | intron_variant | MODIFIER | NA19009.hp1 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0049 | a0001c0001t0002g0310a0001c0001t0049g0255 | 2 | 340 | 0.0059 | -16 | c.4-2 others(29): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780306 | TATAGAGA others(9): Show |
T | intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0235 | 1 | 340 | 0.0029 | -16 | c.4-2 others(29): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223780343 | AGAGAGAG others(9): Show |
A | intron_variant | MODIFIER | HG00673.hp1 NA18971.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0078a0001c0001t0006g0286 | 2 | 340 | 0.0059 | -16 | c.4-2 others(29): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223799208 | GACACACA others(9): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp1 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0032a0001c0001t0001g0043a0001c0001t0001g0046others(62): Show | 65 | 340 | 0.1912 | -16 | c.4-2 others(31): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223832131 | CTCTCTGT others(9): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01255.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(2): Show | a0001c0001t0001g0151a0001c0001t0004g0107a0001c0001t0004g0128others(4): Show | 7 | 340 | 0.0206 | -16 | c.3+5 others(29): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 1/4 | chr2 | TogoVar | ||||||
AP1S3_chr2_223750326_223842582 | 223838221 | CATTTATT others(9): Show |
C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00609.hp2 HG02055.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0009others(4): Show | a0001c0001t0006g0301a0001c0001t0007g0337a0001c0001t0009g0181others(7): Show | 10 | 340 | 0.0294 | -16 | c.-78 others(25): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 640 | chr2 | TogoVar | ||||||
AP2A1_chr19_49762001_49812114 | 49787331 | TTTGTTTG others(9): Show |
T | intron_variant | MODIFIER | HG03704.hp1 NA18955.hp1 NA19063.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024a0001c0001t0002g0027a0001c0001t0002g0055 | 3 | 342 | 0.0088 | -16 | c.474 others(33): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35583115 | CTTTTTTT others(9): Show |
C | upstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0343 | 1 | 372 | 0.0027 | -16 | c.-43 others(27): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 4206 | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35583514 | TTCTCTCT others(9): Show |
T | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG01123.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0165a0001c0004t0002g0166a0001c0004t0002g0167others(3): Show | 6 | 372 | 0.0161 | -16 | c.-39 others(27): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 3807 | chr17 | TogoVar | ||||||
AP2B1_chr17_35582322_35731413 | 35616142 | CTTTTTTT others(9): Show |
C | intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 372 | 0.0027 | -16 | c.525 others(33): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
AP2B1_chr17_35582322_35731413 | 35720567 | ATATATAT others(9): Show |
A | intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083 | 1 | 372 | 0.0027 | -16 | c.278 others(35): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr17 | TogoVar |