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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AP1B1_chr22_29322680_29393570 | 29354768 | A | G | synonymous_variant | LOW | HG03209.hp1 | a0001 | a0001c0010 | a0001c0010t0003 | a0001c0010t0003g0056 | 1 | 378 | 0.0027 | 0 | c.820 others(3): Show |
p.Leu others(6): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 7/23 | 994/4165 | 820/2850 | 274/949 | chr22 | TogoVar | ||
AP1B1_chr22_29322680_29393570 | 29358951 | G | A | synonymous_variant | LOW | HG03688.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0246 | 1 | 378 | 0.0027 | 0 | c.300 others(3): Show |
p.Pro others(6): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 5/23 | 474/4165 | 300/2850 | 100/949 | chr22 | TogoVar | ||
AP1B1_chr22_29322680_29393570 | 29359899 | T | C | synonymous_variant | LOW | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(264): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(22): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(251): Show | 267 | 378 | 0.7064 | 0 | c.204 others(3): Show |
p.Leu others(5): Show |
AP1B1 | ENSG00000100280.17 | transcript | ENST00000357586.7 | protein_coding | 4/23 | 378/4165 | 204/2850 | 68/949 | chr22 | TogoVar | ||
AP1G1_chr16_71724000_71813834 | 71756129 | T | C | synonymous_variant | LOW | HG01891.hp1 HG02109.hp2 HG02258.hp2 others(8): Show |
a0001 | a0001c0003 | a0001c0003t0008 | a0001c0003t0008g0183a0001c0003t0008g0184a0001c0003t0008g0185others(8): Show | 11 | 320 | 0.0344 | 0 | c.111 others(4): Show |
p.Val others(6): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 12/23 | 1194/6602 | 1119/2469 | 373/822 | chr16 | TogoVar | ||
AP1G1_chr16_71724000_71813834 | 71769668 | T | C | synonymous_variant | LOW | HG02809.hp2 | a0001 | a0001c0008 | a0001c0008t0008 | a0001c0008t0008g0181 | 1 | 320 | 0.0031 | 0 | c.597 others(3): Show |
p.Thr others(6): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 6/23 | 672/6602 | 597/2469 | 199/822 | chr16 | TogoVar | ||
AP1G1_chr16_71724000_71813834 | 71769686 | T | C | synonymous_variant | LOW | HG02451.hp2 | a0001 | a0001c0009 | a0001c0009t0019 | a0001c0009t0019g0010 | 1 | 320 | 0.0031 | 0 | c.579 others(3): Show |
p.Thr others(6): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 6/23 | 654/6602 | 579/2469 | 193/822 | chr16 | TogoVar | ||
AP1G1_chr16_71724000_71813834 | 71773329 | C | A | synonymous_variant | LOW | HG01106.hp1 HG01192.hp2 HG01516.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0068a0001c0004t0007g0074a0001c0004t0007g0076others(1): Show | 4 | 320 | 0.0125 | 0 | c.360 others(3): Show |
p.Gly others(6): Show |
AP1G1 | ENSG00000166747.13 | transcript | ENST00000299980.9 | protein_coding | 4/23 | 435/6602 | 360/2469 | 120/822 | chr16 | TogoVar | ||
AP1G2_chr14_23554567_23572791 | 23559986 | C | T | synonymous_variant | LOW | HG01106.hp2 HG02257.hp2 HG02615.hp1 others(1): Show |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0021a0001c0006t0001g0047 | 4 | 396 | 0.0101 | 0 | c.220 others(4): Show |
p.Arg others(6): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 21/22 | 2266/2598 | 2208/2358 | 736/785 | chr14 | TogoVar | ||
AP1G2_chr14_23554567_23572791 | 23560022 | C | T | synonymous_variant | LOW | HG02109.hp1 HG02717.hp2 HG02818.hp1 others(3): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0015a0001c0005t0001g0048 | 6 | 396 | 0.0152 | 0 | c.217 others(4): Show |
p.Gln others(6): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 21/22 | 2230/2598 | 2172/2358 | 724/785 | chr14 | TogoVar | ||
AP1G2_chr14_23554567_23572791 | 23561601 | G | T | synonymous_variant | LOW | HG01109.hp1 HG01884.hp2 HG01891.hp1 others(12): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0006a0001c0002t0001g0052 | 15 | 396 | 0.0379 | 0 | c.176 others(4): Show |
p.Arg others(6): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 18/22 | 1826/2598 | 1768/2358 | 590/785 | chr14 | TogoVar | ||
AP1G2_chr14_23554567_23572791 | 23565870 | C | T | synonymous_variant | LOW | HG00280.hp1 HG00323.hp2 HG03098.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0042a0001c0007t0001g0043a0001c0007t0001g0044 | 3 | 396 | 0.0076 | 0 | c.591 others(3): Show |
p.Thr others(6): Show |
AP1G2 | ENSG00000213983.12 | transcript | ENST00000397120.8 | protein_coding | 6/22 | 649/2598 | 591/2358 | 197/785 | chr14 | TogoVar | ||
AP1M1_chr19_16192911_16250906 | 16209087 | C | T | synonymous_variant | LOW | HG01346.hp1 | a0001 | a0001c0005 | a0001c0005t0076 | a0001c0005t0076g0142 | 1 | 308 | 0.0033 | 0 | c.456 others(3): Show |
p.Thr others(6): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 5/12 | 572/12859 | 456/1272 | 152/423 | chr19 | TogoVar | ||
AP1M1_chr19_16192911_16250906 | 16227648 | C | A | synonymous_variant | LOW | HG01891.hp1 | a0001 | a0001c0003 | a0001c0003t0098 | a0001c0003t0098g0195 | 1 | 308 | 0.0033 | 0 | c.774 others(3): Show |
p.Pro others(6): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 7/12 | 890/12859 | 774/1272 | 258/423 | chr19 | TogoVar | ||
AP1M1_chr19_16192911_16250906 | 16228904 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(96): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0002a0001c0002t0005a0001c0002t0007others(50): Show | a0001c0002t0002g0026a0001c0002t0002g0028a0001c0002t0002g0029others(96): Show | 99 | 308 | 0.3214 | 0 | c.102 others(4): Show |
p.Ile others(6): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 9/12 | 1139/12859 | 1023/1272 | 341/423 | chr19 | TogoVar | ||
AP1M1_chr19_16192911_16250906 | 16233609 | C | T | synonymous_variant | LOW | NA18984.hp2 | a0001 | a0001c0004 | a0001c0004t0121 | a0001c0004t0121g0249 | 1 | 308 | 0.0033 | 0 | c.116 others(4): Show |
p.Ser others(6): Show |
AP1M1 | ENSG00000072958.9 | transcript | ENST00000291439.8 | protein_coding | 10/12 | 1280/12859 | 1164/1272 | 388/423 | chr19 | TogoVar | ||
AP1M2_chr19_10567671_10592312 | 10575018 | C | T | synonymous_variant | LOW | HG02109.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0204 | 1 | 394 | 0.0025 | 0 | c.105 others(4): Show |
p.Glu others(6): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 10/12 | 1140/1748 | 1059/1272 | 353/423 | chr19 | TogoVar | ||
AP1M2_chr19_10567671_10592312 | 10581324 | T | C | synonymous_variant | LOW | HG00099.hp1 HG00408.hp2 HG00438.hp1 others(176): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0007 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(8): Show | a0001c0002t0001g0018a0001c0002t0001g0083a0001c0002t0001g0084others(145): Show | 179 | 394 | 0.4543 | 0 | c.615 others(3): Show |
p.Ser others(6): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 6/12 | 696/1748 | 615/1272 | 205/423 | chr19 | TogoVar | ||
AP1M2_chr19_10567671_10592312 | 10581375 | G | A | synonymous_variant | LOW | HG00438.hp2 NA18942.hp2 NA18948.hp2 others(15): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0012a0001c0003t0001g0013a0001c0003t0001g0191others(11): Show | 18 | 394 | 0.0457 | 0 | c.564 others(3): Show |
p.Ser others(6): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 6/12 | 645/1748 | 564/1272 | 188/423 | chr19 | TogoVar | ||
AP1M2_chr19_10567671_10592312 | 10583941 | G | A | synonymous_variant | LOW | HG00597.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0109 | 1 | 394 | 0.0025 | 0 | c.172 others(3): Show |
p.Leu others(5): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2/12 | 253/1748 | 172/1272 | 58/423 | chr19 | TogoVar | ||
AP1M2_chr19_10567671_10592312 | 10584044 | G | A | synonymous_variant | LOW | HG00099.hp2 HG01074.hp1 HG01257.hp2 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0201a0001c0004t0001g0202a0001c0004t0001g0213others(1): Show | 4 | 394 | 0.0102 | 0 | c.69C others(2): Show |
p.Gly others(5): Show |
AP1M2 | ENSG00000129354.12 | transcript | ENST00000250244.11 | protein_coding | 2/12 | 150/1748 | 69/1272 | 23/423 | chr19 | TogoVar | ||
AP1S1_chr7_101149476_101166276 | 101156689 | C | T | synonymous_variant | LOW | HG00544.hp2 HG02015.hp1 HG02132.hp2 others(16): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008a0001c0002t0001g0055a0001c0002t0001g0057others(3): Show | 19 | 432 | 0.0440 | 0 | c.99C others(2): Show |
p.Arg others(5): Show |
AP1S1 | ENSG00000106367.15 | transcript | ENST00000337619.11 | protein_coding | 2/5 | 138/1226 | 99/477 | 33/158 | chr7 | TogoVar | ||
AP1S1_chr7_101149476_101166276 | 101156707 | C | G | synonymous_variant | LOW | HG00642.hp2 | a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0051 | 1 | 432 | 0.0023 | 0 | c.117 others(3): Show |
p.Val others(5): Show |
AP1S1 | ENSG00000106367.15 | transcript | ENST00000337619.11 | protein_coding | 2/5 | 156/1226 | 117/477 | 39/158 | chr7 | TogoVar | ||
AP1S1_chr7_101149476_101166276 | 101157395 | C | T | synonymous_variant | LOW | NA18942.hp1 NA18943.hp2 NA18944.hp2 others(10): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0001a0001c0004t0002g0001 | 13 | 432 | 0.0301 | 0 | c.201 others(3): Show |
p.Phe others(5): Show |
AP1S1 | ENSG00000106367.15 | transcript | ENST00000337619.11 | protein_coding | 3/5 | 240/1226 | 201/477 | 67/158 | chr7 | TogoVar | ||
AP1S1_chr7_101149476_101166276 | 101159161 | C | T | synonymous_variant | LOW | NA18953.hp1 NA18964.hp1 NA18987.hp1 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0001 | 5 | 432 | 0.0116 | 0 | c.394 others(3): Show |
p.Leu others(6): Show |
AP1S1 | ENSG00000106367.15 | transcript | ENST00000337619.11 | protein_coding | 4/5 | 433/1226 | 394/477 | 132/158 | chr7 | TogoVar | ||
AP1S2_chrX_15820806_15859813 | 15845903 | A | G | splice_region_variant others(1): Show |
LOW | HG02280.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0138 | 1 | 318 | 0.0031 | 0 | c.288 others(3): Show |
p.Ser others(5): Show |
AP1S2 | ENSG00000182287.15 | transcript | ENST00000672987.1 | protein_coding | 3/6 | 414/2128 | 288/483 | 96/160 | chrX | TogoVar | ||
AP1S3_chr2_223750326_223842582 | 223765297 | G | A | synonymous_variant | LOW | HG01891.hp2 NA18983.hp2 |
a0001 | a0001c0003 | a0001c0003t0021a0001c0003t0034 | a0001c0003t0021g0320a0001c0003t0034g0164 | 2 | 340 | 0.0059 | 0 | c.345 others(3): Show |
p.Asp others(6): Show |
AP1S3 | ENSG00000152056.18 | transcript | ENST00000396654.7 | protein_coding | 4/5 | 477/3986 | 345/465 | 115/154 | chr2 | TogoVar | ||
AP2A1_chr19_49762001_49812114 | 49782552 | C | T | synonymous_variant | LOW | HG01169.hp2 HG01192.hp1 HG01517.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0218a0001c0003t0001g0219a0001c0003t0001g0273 | 3 | 342 | 0.0088 | 0 | c.301 others(3): Show |
p.Leu others(6): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 4/23 | 434/3357 | 301/2868 | 101/955 | chr19 | TogoVar | ||
AP2A1_chr19_49762001_49812114 | 49782683 | C | T | synonymous_variant | LOW | NA18959.hp1 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0049 | 1 | 342 | 0.0029 | 0 | c.432 others(3): Show |
p.Gly others(6): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 4/23 | 565/3357 | 432/2868 | 144/955 | chr19 | TogoVar | ||
AP2A1_chr19_49762001_49812114 | 49792031 | G | A | synonymous_variant | LOW | NA20905.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0039 | 1 | 342 | 0.0029 | 0 | c.570 others(3): Show |
p.Ala others(6): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 5/23 | 703/3357 | 570/2868 | 190/955 | chr19 | TogoVar | ||
AP2A1_chr19_49762001_49812114 | 49799456 | C | T | synonymous_variant | LOW | HG01256.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0214 | 1 | 342 | 0.0029 | 0 | c.109 others(4): Show |
p.Ala others(6): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 9/23 | 1228/3357 | 1095/2868 | 365/955 | chr19 | TogoVar | ||
AP2A1_chr19_49762001_49812114 | 49799640 | C | T | synonymous_variant | LOW | HG00438.hp2 HG02071.hp1 HG02683.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0228a0001c0002t0001g0230a0001c0002t0001g0243others(1): Show | 4 | 342 | 0.0117 | 0 | c.114 others(4): Show |
p.Asp others(6): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 10/23 | 1279/3357 | 1146/2868 | 382/955 | chr19 | TogoVar | ||
AP2A1_chr19_49762001_49812114 | 49799742 | A | G | synonymous_variant | LOW | NA19068.hp2 NA19087.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0184a0001c0005t0001g0190 | 2 | 342 | 0.0059 | 0 | c.124 others(4): Show |
p.Ala others(6): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 10/23 | 1381/3357 | 1248/2868 | 416/955 | chr19 | TogoVar | ||
AP2A1_chr19_49762001_49812114 | 49800054 | G | T | synonymous_variant | LOW | NA18963.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0122 | 1 | 342 | 0.0029 | 0 | c.135 others(4): Show |
p.Ala others(6): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 11/23 | 1492/3357 | 1359/2868 | 453/955 | chr19 | TogoVar | ||
AP2A1_chr19_49762001_49812114 | 49801582 | G | A | synonymous_variant | LOW | NA20805.hp2 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0035 | 1 | 342 | 0.0029 | 0 | c.174 others(4): Show |
p.Glu others(6): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 13/23 | 1879/3357 | 1746/2868 | 582/955 | chr19 | TogoVar | ||
AP2A1_chr19_49762001_49812114 | 49805661 | G | A | splice_region_variant others(1): Show |
LOW | HG03453.hp2 NA19030.hp2 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0211a0001c0004t0001g0310 | 2 | 342 | 0.0059 | 0 | c.246 others(4): Show |
p.Arg others(6): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 20/23 | 2602/3357 | 2469/2868 | 823/955 | chr19 | TogoVar | ||
AP2A1_chr19_49762001_49812114 | 49806729 | C | T | synonymous_variant | LOW | HG02083.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0267 | 1 | 342 | 0.0029 | 0 | c.283 others(4): Show |
p.Leu others(6): Show |
AP2A1 | ENSG00000196961.13 | transcript | ENST00000354293.10 | protein_coding | 23/23 | 2972/3357 | 2839/2868 | 947/955 | chr19 | TogoVar | ||
AP2A2_chr11_920870_1017240 | 972118 | C | A | synonymous_variant | LOW | HG00621.hp1 HG03704.hp1 NA19004.hp2 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0003 | a0001c0005t0003g0131a0001c0005t0003g0140a0001c0005t0003g0177others(1): Show | 4 | 268 | 0.0149 | 0 | c.336 others(3): Show |
p.Ile others(6): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 4/22 | 488/4587 | 336/2820 | 112/939 | chr11 | TogoVar | ||
AP2A2_chr11_920870_1017240 | 981236 | A | G | synonymous_variant | LOW | HG00609.hp1 | a0001 | a0001c0015 | a0001c0015t0003 | a0001c0015t0003g0170 | 1 | 268 | 0.0037 | 0 | c.642 others(3): Show |
p.Leu others(6): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 6/22 | 794/4587 | 642/2820 | 214/939 | chr11 | TogoVar | ||
AP2A2_chr11_920870_1017240 | 985547 | C | T | synonymous_variant | LOW | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(124): Show |
a0001a0004 | a0001c0001a0001c0006a0001c0012others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0010others(124): Show | 127 | 268 | 0.4739 | 0 | c.927 others(3): Show |
p.Leu others(6): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 8/22 | 1079/4587 | 927/2820 | 309/939 | chr11 | TogoVar | ||
AP2A2_chr11_920870_1017240 | 988638 | C | T | synonymous_variant | LOW | NA18522.hp2 | a0001 | a0001c0010 | a0001c0010t0005 | a0001c0010t0005g0144 | 1 | 268 | 0.0037 | 0 | c.121 others(4): Show |
p.Ala others(6): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 10/22 | 1370/4587 | 1218/2820 | 406/939 | chr11 | TogoVar | ||
AP2A2_chr11_920870_1017240 | 993817 | G | A | synonymous_variant | LOW | HG01109.hp1 HG04199.hp1 |
a0001 | a0001c0012a0001c0013 | a0001c0012t0001a0001c0013t0001 | a0001c0012t0001g0096a0001c0013t0001g0127 | 2 | 268 | 0.0075 | 0 | c.161 others(4): Show |
p.Ala others(6): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 13/22 | 1766/4587 | 1614/2820 | 538/939 | chr11 | TogoVar | ||
AP2A2_chr11_920870_1017240 | 993907 | C | G | synonymous_variant | LOW | HG00544.hp2 HG00597.hp1 HG00673.hp2 others(40): Show |
a0001a0005 | a0001c0003a0001c0006a0001c0013others(1): Show | a0001c0003t0002a0001c0003t0004a0001c0003t0006others(5): Show | a0001c0003t0002g0005a0001c0003t0002g0133a0001c0003t0002g0134others(40): Show | 43 | 268 | 0.1605 | 0 | c.170 others(4): Show |
p.Leu others(6): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 13/22 | 1856/4587 | 1704/2820 | 568/939 | chr11 | TogoVar | ||
AP2A2_chr11_920870_1017240 | 993964 | C | T | synonymous_variant | LOW | HG01243.hp2 HG02257.hp1 HG02559.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0002a0001c0004t0009a0001c0004t0010 | a0001c0004t0002g0191a0001c0004t0002g0192a0001c0004t0009g0260others(2): Show | 5 | 268 | 0.0187 | 0 | c.176 others(4): Show |
p.Thr others(6): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 13/22 | 1913/4587 | 1761/2820 | 587/939 | chr11 | TogoVar | ||
AP2A2_chr11_920870_1017240 | 994134 | C | G | synonymous_variant | LOW | HG02622.hp1 | a0003 | a0003c0007 | a0003c0007t0004 | a0003c0007t0004g0225 | 1 | 268 | 0.0037 | 0 | c.184 others(4): Show |
p.Leu others(6): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 14/22 | 1997/4587 | 1845/2820 | 615/939 | chr11 | TogoVar | ||
AP2A2_chr11_920870_1017240 | 994209 | G | T | synonymous_variant | LOW | HG01243.hp1 | a0001 | a0001c0008 | a0001c0008t0004 | a0001c0008t0004g0237 | 1 | 268 | 0.0037 | 0 | c.192 others(4): Show |
p.Gly others(6): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 14/22 | 2072/4587 | 1920/2820 | 640/939 | chr11 | TogoVar | ||
AP2B1_chr17_35582322_35731413 | 35627454 | A | G | synonymous_variant | LOW | HG02055.hp2 | a0001 | a0001c0008 | a0001c0008t0002 | a0001c0008t0002g0122 | 1 | 372 | 0.0027 | 0 | c.100 others(4): Show |
p.Leu others(6): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 8/22 | 1138/5700 | 1008/2856 | 336/951 | chr17 | TogoVar | ||
AP2B1_chr17_35582322_35731413 | 35636421 | T | C | synonymous_variant | LOW | HG01891.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0116 | 1 | 372 | 0.0027 | 0 | c.123 others(4): Show |
p.Val others(6): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 10/22 | 1366/5700 | 1236/2856 | 412/951 | chr17 | TogoVar | ||
AP2B1_chr17_35582322_35731413 | 35639610 | C | T | synonymous_variant | LOW | HG02040.hp1 HG02071.hp2 NA18960.hp1 others(9): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0204a0001c0003t0001g0213a0001c0003t0001g0300others(9): Show | 12 | 372 | 0.0323 | 0 | c.128 others(4): Show |
p.Ile others(6): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 11/22 | 1417/5700 | 1287/2856 | 429/951 | chr17 | TogoVar | ||
AP2B1_chr17_35582322_35731413 | 35639637 | G | A | synonymous_variant | LOW | NA21309.hp1 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0061 | 1 | 372 | 0.0027 | 0 | c.131 others(4): Show |
p.Ser others(6): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 11/22 | 1444/5700 | 1314/2856 | 438/951 | chr17 | TogoVar | ||
AP2B1_chr17_35582322_35731413 | 35671783 | G | C | synonymous_variant | LOW | HG00438.hp1 HG00558.hp2 HG00597.hp1 others(137): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0002t0010others(5): Show | a0001c0002t0001g0003a0001c0002t0001g0060a0001c0002t0001g0186others(136): Show | 140 | 372 | 0.3763 | 0 | c.206 others(4): Show |
p.Val others(6): Show |
AP2B1 | ENSG00000006125.18 | transcript | ENST00000610402.5 | protein_coding | 16/22 | 2191/5700 | 2061/2856 | 687/951 | chr17 | TogoVar |