view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACP5_chr19_11569660_11582645 | 11576380 | C | T | missense_variant | MODERATE | HG00558.hp2 HG00673.hp1 HG00741.hp2 others(33): Show |
a0002 | a0002c0003a0002c0005 | a0002c0003t0001a0002c0005t0001 | a0002c0003t0001g0004 a0002c0003t0001g0016 a0002c0003t0001g0029 others(6): Show |
36 | 442 | 0.0814 | 0 | c.598 others(3): Show |
p.Val others(6): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 4/5 | 651/1381 | 598/978 | 200/325 | chr19 | TogoVar | |||
ACP5_chr19_11569660_11582645 | 11576434 | G | A | missense_variant | MODERATE | HG02258.hp2 | a0006 | a0006c0017 | a0006c0017t0001 | a0006c0017t0001g0075 | 1 | 442 | 0.0023 | 0 | c.544 others(3): Show |
p.Arg others(6): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 4/5 | 597/1381 | 544/978 | 182/325 | chr19 | TogoVar | |||
ACP5_chr19_11569660_11582645 | 11576536 | C | T | missense_variant | MODERATE | HG00558.hp2 HG00673.hp1 HG00741.hp2 others(37): Show |
a0002a0004 | a0002c0003a0002c0005a0004c0006 | a0002c0003t0001a0002c0005t0001a0004c0006t0001 | a0002c0003t0001g0004 a0002c0003t0001g0016 a0002c0003t0001g0029 others(8): Show |
40 | 442 | 0.0905 | 0 | c.442 others(3): Show |
p.Val others(6): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 4/5 | 495/1381 | 442/978 | 148/325 | chr19 | TogoVar | |||
ACP5_chr19_11569660_11582645 | 11576789 | C | T | missense_variant | MODERATE | NA18942.hp2 | a0010 | a0010c0012 | a0010c0012t0002 | a0010c0012t0002g0048 | 1 | 442 | 0.0023 | 0 | c.316 others(3): Show |
p.Val others(6): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 3/5 | 369/1381 | 316/978 | 106/325 | chr19 | TogoVar | |||
ACP5_chr19_11569660_11582645 | 11576806 | C | T | missense_variant | MODERATE | HG02602.hp2 | a0007 | a0007c0011 | a0007c0011t0002 | a0007c0011t0002g0047 | 1 | 442 | 0.0023 | 0 | c.299 others(3): Show |
p.Arg others(6): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 3/5 | 352/1381 | 299/978 | 100/325 | chr19 | TogoVar | |||
ACP5_chr19_11569660_11582645 | 11576828 | C | T | missense_variant | MODERATE | HG02615.hp1 | a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0046 | 1 | 442 | 0.0023 | 0 | c.277 others(3): Show |
p.Val others(5): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 3/5 | 330/1381 | 277/978 | 93/325 | chr19 | TogoVar | |||
ACP5_chr19_11569660_11582645 | 11577310 | A | G | missense_variant | MODERATE | NA19055.hp1 | a0011 | a0011c0008 | a0011c0008t0001 | a0011c0008t0001g0084 | 1 | 442 | 0.0023 | 0 | c.8T> others(1): Show |
p.Met others(4): Show |
ACP5 | ENSG00000102575.14 | transcript | ENST00000648477.1 | protein_coding | 2/5 | 61/1381 | 8/978 | 3/325 | chr19 | TogoVar | |||
ACP6_chr1_147637230_147675524 | 147647506 | T | C | missense_variant | MODERATE | HG02145.hp2 HG02818.hp1 |
a0003 | a0003c0006 | a0003c0006t0022 | a0003c0006t0022g0033 | 2 | 402 | 0.0050 | 0 | c.120 others(4): Show |
p.Met others(6): Show |
ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 10/10 | 1680/6956 | 1204/1287 | 402/428 | chr1 | TogoVar | |||
ACP6_chr1_147637230_147675524 | 147648394 | G | A | missense_variant | MODERATE | HG02145.hp2 HG02818.hp1 |
a0003 | a0003c0006 | a0003c0006t0022 | a0003c0006t0022g0033 | 2 | 402 | 0.0050 | 0 | c.995 others(3): Show |
p.Ala others(6): Show |
ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 9/10 | 1471/6956 | 995/1287 | 332/428 | chr1 | TogoVar | |||
ACP6_chr1_147637230_147675524 | 147650174 | T | C | missense_variant | MODERATE | HG02109.hp2 HG02257.hp1 HG02559.hp2 others(8): Show |
a0002 | a0002c0004 | a0002c0004t0007a0002c0004t0048 | a0002c0004t0007g0008 a0002c0004t0007g0103 a0002c0004t0007g0104 others(1): Show |
11 | 402 | 0.0274 | 0 | c.946 others(3): Show |
p.Met others(6): Show |
ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 8/10 | 1422/6956 | 946/1287 | 316/428 | chr1 | TogoVar | |||
ACP6_chr1_147637230_147675524 | 147650194 | T | C | missense_variant | MODERATE | NA18962.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0168 | 1 | 402 | 0.0025 | 0 | c.926 others(3): Show |
p.Glu others(6): Show |
ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 8/10 | 1402/6956 | 926/1287 | 309/428 | chr1 | TogoVar | |||
ACP6_chr1_147637230_147675524 | 147650195 | C | T | missense_variant | MODERATE | NA18962.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0168 | 1 | 402 | 0.0025 | 0 | c.925 others(3): Show |
p.Glu others(6): Show |
ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 8/10 | 1401/6956 | 925/1287 | 309/428 | chr1 | TogoVar | |||
ACP6_chr1_147637230_147675524 | 147654322 | G | A | missense_variant | MODERATE | HG01175.hp2 | a0005 | a0005c0012 | a0005c0012t0002 | a0005c0012t0002g0116 | 1 | 402 | 0.0025 | 0 | c.652 others(3): Show |
p.Arg others(6): Show |
ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 6/10 | 1128/6956 | 652/1287 | 218/428 | chr1 | TogoVar | |||
ACP6_chr1_147637230_147675524 | 147659696 | G | A | missense_variant | MODERATE | HG03225.hp1 NA19090.hp1 |
a0004 | a0004c0013a0004c0014 | a0004c0013t0002a0004c0014t0001 | a0004c0013t0002g0081 a0004c0014t0001g0163 |
2 | 402 | 0.0050 | 0 | c.299 others(3): Show |
p.Pro others(6): Show |
ACP6 | ENSG00000162836.12 | transcript | ENST00000583509.7 | protein_coding | 2/10 | 775/6956 | 299/1287 | 100/428 | chr1 | TogoVar | |||
ACP7_chr19_39079368_39116493 | 39098602 | G | T | missense_variant | MODERATE | HG02055.hp1 | a0004 | a0004c0013 | a0004c0013t0006 | a0004c0013t0006g0116 | 1 | 400 | 0.0025 | 0 | c.266 others(3): Show |
p.Arg others(5): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 3/13 | 477/2903 | 266/1317 | 89/438 | chr19 | TogoVar | |||
ACP7_chr19_39079368_39116493 | 39099046 | G | A | missense_variant | MODERATE | HG01981.hp2 | a0003 | a0003c0014 | a0003c0014t0001 | a0003c0014t0001g0361 | 1 | 400 | 0.0025 | 0 | c.409 others(3): Show |
p.Ala others(6): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 4/13 | 620/2903 | 409/1317 | 137/438 | chr19 | TogoVar | |||
ACP7_chr19_39079368_39116493 | 39099075 | C | A | missense_variant | MODERATE | NA18986.hp2 | a0006 | a0006c0015 | a0006c0015t0004 | a0006c0015t0004g0066 | 1 | 400 | 0.0025 | 0 | c.438 others(3): Show |
p.Asn others(6): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 4/13 | 649/2903 | 438/1317 | 146/438 | chr19 | TogoVar | |||
ACP7_chr19_39079368_39116493 | 39099091 | C | T | missense_variant | MODERATE | HG02630.hp2 | a0005 | a0005c0016 | a0005c0016t0013 | a0005c0016t0013g0248 | 1 | 400 | 0.0025 | 0 | c.454 others(3): Show |
p.Arg others(6): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 4/13 | 665/2903 | 454/1317 | 152/438 | chr19 | TogoVar | |||
ACP7_chr19_39079368_39116493 | 39101189 | G | T | missense_variant | MODERATE | HG01255.hp2 HG01257.hp1 HG01258.hp1 |
a0002 | a0002c0011 | a0002c0011t0004 | a0002c0011t0004g0075 a0002c0011t0004g0083 a0002c0011t0004g0084 |
3 | 400 | 0.0075 | 0 | c.955 others(3): Show |
p.Asp others(6): Show |
ACP7 | ENSG00000183760.11 | transcript | ENST00000331256.10 | protein_coding | 9/13 | 1166/2903 | 955/1317 | 319/438 | chr19 | TogoVar | |||
ACRBP_chr12_6633075_6652432 | 6643610 | T | C | missense_variant | MODERATE | HG00438.hp2 NA18944.hp1 NA18960.hp2 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0008 a0002c0003t0001g0046 |
8 | 420 | 0.0190 | 0 | c.100 others(4): Show |
p.Thr others(6): Show |
ACRBP | ENSG00000111644.8 | transcript | ENST00000229243.7 | protein_coding | 6/10 | 1072/1905 | 1006/1632 | 336/543 | chr12 | TogoVar | |||
ACRBP_chr12_6633075_6652432 | 6644249 | T | G | missense_variant | MODERATE | HG03486.hp1 | a0008 | a0008c0010 | a0008c0010t0002 | a0008c0010t0002g0049 | 1 | 420 | 0.0024 | 0 | c.832 others(3): Show |
p.Thr others(6): Show |
ACRBP | ENSG00000111644.8 | transcript | ENST00000229243.7 | protein_coding | 5/10 | 898/1905 | 832/1632 | 278/543 | chr12 | TogoVar | |||
ACRBP_chr12_6633075_6652432 | 6644359 | C | T | missense_variant | MODERATE | HG02056.hp1 HG02132.hp2 NA18946.hp1 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0011 a0003c0004t0001g0051 |
7 | 420 | 0.0167 | 0 | c.722 others(3): Show |
p.Gly others(6): Show |
ACRBP | ENSG00000111644.8 | transcript | ENST00000229243.7 | protein_coding | 5/10 | 788/1905 | 722/1632 | 241/543 | chr12 | TogoVar | |||
ACRBP_chr12_6633075_6652432 | 6644459 | T | C | missense_variant | MODERATE | HG01978.hp2 | a0006 | a0006c0011 | a0006c0011t0001 | a0006c0011t0001g0064 | 1 | 420 | 0.0024 | 0 | c.622 others(3): Show |
p.Thr others(6): Show |
ACRBP | ENSG00000111644.8 | transcript | ENST00000229243.7 | protein_coding | 5/10 | 688/1905 | 622/1632 | 208/543 | chr12 | TogoVar | |||
ACRBP_chr12_6633075_6652432 | 6644555 | C | T | missense_variant | MODERATE | HG00558.hp2 HG02080.hp1 |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0026 | 2 | 420 | 0.0048 | 0 | c.526 others(3): Show |
p.Val others(6): Show |
ACRBP | ENSG00000111644.8 | transcript | ENST00000229243.7 | protein_coding | 5/10 | 592/1905 | 526/1632 | 176/543 | chr12 | TogoVar | |||
ACRBP_chr12_6633075_6652432 | 6645313 | A | T | missense_variant | MODERATE | HG01952.hp1 HG02647.hp2 HG02896.hp1 others(1): Show |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0034 a0004c0005t0002g0035 |
4 | 420 | 0.0095 | 0 | c.382 others(3): Show |
p.Ser others(6): Show |
ACRBP | ENSG00000111644.8 | transcript | ENST00000229243.7 | protein_coding | 4/10 | 448/1905 | 382/1632 | 128/543 | chr12 | TogoVar | |||
ACRBP_chr12_6633075_6652432 | 6646862 | G | T | missense_variant | MODERATE | NA18972.hp2 | a0009 | a0009c0008 | a0009c0008t0002 | a0009c0008t0002g0072 | 1 | 420 | 0.0024 | 0 | c.194 others(3): Show |
p.Thr others(5): Show |
ACRBP | ENSG00000111644.8 | transcript | ENST00000229243.7 | protein_coding | 2/10 | 260/1905 | 194/1632 | 65/543 | chr12 | TogoVar | |||
ACRBP_chr12_6633075_6652432 | 6646926 | C | G | missense_variant | MODERATE | HG02004.hp2 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0037 | 1 | 420 | 0.0024 | 0 | c.130 others(3): Show |
p.Glu others(5): Show |
ACRBP | ENSG00000111644.8 | transcript | ENST00000229243.7 | protein_coding | 2/10 | 196/1905 | 130/1632 | 44/543 | chr12 | TogoVar | |||
ACRV1_chr11_125666522_125685847 | 125672681 | T | A | missense_variant | MODERATE | HG01346.hp1 HG04184.hp1 |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0032 | 2 | 424 | 0.0047 | 0 | c.710 others(3): Show |
p.Asn others(6): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 4/4 | 777/1936 | 710/798 | 237/265 | chr11 | TogoVar | |||
ACRV1_chr11_125666522_125685847 | 125676475 | G | A | missense_variant | MODERATE | HG00673.hp1 | a0005 | a0005c0009 | a0005c0009t0001 | a0005c0009t0001g0043 | 1 | 424 | 0.0024 | 0 | c.557 others(3): Show |
p.Thr others(6): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 3/4 | 624/1936 | 557/798 | 186/265 | chr11 | TogoVar | |||
ACRV1_chr11_125666522_125685847 | 125677846 | G | T | missense_variant | MODERATE | HG02698.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0076 | 1 | 424 | 0.0024 | 0 | c.504 others(3): Show |
p.His others(6): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 2/4 | 571/1936 | 504/798 | 168/265 | chr11 | TogoVar | |||
ACRV1_chr11_125666522_125685847 | 125677974 | C | T | missense_variant | MODERATE | HG01074.hp1 HG01109.hp2 HG01255.hp1 others(18): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0004a0002c0002t0009 | a0002c0002t0003g0012 a0002c0002t0003g0019 a0002c0002t0003g0027 others(10): Show |
21 | 424 | 0.0495 | 0 | c.376 others(3): Show |
p.Gly others(6): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 2/4 | 443/1936 | 376/798 | 126/265 | chr11 | TogoVar | |||
ACRV1_chr11_125666522_125685847 | 125678055 | C | T | missense_variant | MODERATE | HG02559.hp1 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0063 | 1 | 424 | 0.0024 | 0 | c.295 others(3): Show |
p.Ala others(5): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 2/4 | 362/1936 | 295/798 | 99/265 | chr11 | TogoVar | |||
ACRV1_chr11_125666522_125685847 | 125678213 | A | G | missense_variant | MODERATE | HG03209.hp1 | a0008 | a0008c0005 | a0008c0005t0001 | a0008c0005t0001g0039 | 1 | 424 | 0.0024 | 0 | c.137 others(3): Show |
p.Leu others(5): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 2/4 | 204/1936 | 137/798 | 46/265 | chr11 | TogoVar | |||
ACRV1_chr11_125666522_125685847 | 125678297 | C | T | missense_variant others(1): Show |
MODERATE | NA18747.hp2 NA18982.hp2 NA19085.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0022 | 3 | 424 | 0.0071 | 0 | c.53G others(2): Show |
p.Gly others(5): Show |
ACRV1 | ENSG00000134940.14 | transcript | ENST00000533904.6 | protein_coding | 2/4 | 120/1936 | 53/798 | 18/265 | chr11 | TogoVar | |||
ACR_chr22_50733204_50750339 | 50738301 | C | A | missense_variant | MODERATE | HG03239.hp2 | a0009 | a0009c0007 | a0009c0007t0001 | a0009c0007t0001g0002 | 1 | 462 | 0.0022 | 0 | c.66C others(2): Show |
p.Asn others(5): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 1/5 | 98/1430 | 66/1266 | 22/421 | chr22 | TogoVar | |||
ACR_chr22_50733204_50750339 | 50738306 | C | T | missense_variant | MODERATE | NA18965.hp2 NA18989.hp1 NA18999.hp1 others(1): Show |
a0006 | a0006c0005 | a0006c0005t0001 | a0006c0005t0001g0003 a0006c0005t0001g0023 |
4 | 462 | 0.0087 | 0 | c.71C others(2): Show |
p.Thr others(5): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 1/5 | 103/1430 | 71/1266 | 24/421 | chr22 | TogoVar | |||
ACR_chr22_50733204_50750339 | 50744135 | T | A | missense_variant | MODERATE | NA19075.hp1 | a0010 | a0010c0008 | a0010c0008t0001 | a0010c0008t0001g0054 | 1 | 462 | 0.0022 | 0 | c.640 others(3): Show |
p.Trp others(6): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 4/5 | 672/1430 | 640/1266 | 214/421 | chr22 | TogoVar | |||
ACR_chr22_50733204_50750339 | 50744716 | A | G | missense_variant | MODERATE | HG00673.hp2 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0008 | 1 | 462 | 0.0022 | 0 | c.775 others(3): Show |
p.Ile others(6): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 5/5 | 807/1430 | 775/1266 | 259/421 | chr22 | TogoVar | |||
ACR_chr22_50733204_50750339 | 50744827 | A | G | missense_variant | MODERATE | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(354): Show |
a0001a0003a0004others(4): Show | a0001c0001a0001c0011a0001c0013others(7): Show | a0001c0001t0001a0001c0011t0001a0001c0013t0001others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(129): Show |
357 | 462 | 0.7727 | 0 | c.886 others(3): Show |
p.Met others(6): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 5/5 | 918/1430 | 886/1266 | 296/421 | chr22 | TogoVar | |||
ACR_chr22_50733204_50750339 | 50744993 | C | T | missense_variant | MODERATE | HG00099.hp2 HG00423.hp2 HG01256.hp2 others(22): Show |
a0003a0008 | a0003c0003a0008c0010 | a0003c0003t0001a0008c0010t0001 | a0003c0003t0001g0002 a0003c0003t0001g0010 a0003c0003t0001g0012 others(7): Show |
25 | 462 | 0.0541 | 0 | c.105 others(4): Show |
p.Pro others(6): Show |
ACR | ENSG00000100312.11 | transcript | ENST00000216139.10 | protein_coding | 5/5 | 1084/1430 | 1052/1266 | 351/421 | chr22 | TogoVar | |||
ACSBG1_chr15_78162468_78239565 | 78173664 | G | A | missense_variant | MODERATE | HG00423.hp2 HG00609.hp1 HG01081.hp1 others(24): Show |
a0003a0004 | a0003c0004a0004c0014 | a0003c0004t0003a0003c0004t0009a0003c0004t0021others(1): Show | a0003c0004t0003g0052 a0003c0004t0003g0053 a0003c0004t0003g0079 others(24): Show |
27 | 348 | 0.0776 | 0 | c.201 others(4): Show |
p.Ala others(6): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 13/14 | 2082/6215 | 2018/2175 | 673/724 | chr15 | TogoVar | |||
ACSBG1_chr15_78162468_78239565 | 78173785 | T | C | missense_variant | MODERATE | HG00280.hp2 HG00423.hp1 HG00423.hp2 others(177): Show |
a0002a0003a0004others(2): Show | a0002c0002a0002c0003a0002c0005others(10): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(24): Show | a0002c0002t0001g0064 a0002c0002t0001g0185 a0002c0002t0001g0187 others(174): Show |
180 | 348 | 0.5172 | 0 | c.189 others(4): Show |
p.Met others(6): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 13/14 | 1961/6215 | 1897/2175 | 633/724 | chr15 | TogoVar | |||
ACSBG1_chr15_78162468_78239565 | 78174402 | T | C | missense_variant | MODERATE | NA19083.hp1 | a0010 | a0010c0018 | a0010c0018t0001 | a0010c0018t0001g0252 | 1 | 348 | 0.0029 | 0 | c.182 others(4): Show |
p.Met others(6): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 12/14 | 1889/6215 | 1825/2175 | 609/724 | chr15 | TogoVar | |||
ACSBG1_chr15_78162468_78239565 | 78178650 | C | T | missense_variant | MODERATE | HG03831.hp2 | a0006 | a0006c0020 | a0006c0020t0032 | a0006c0020t0032g0193 | 1 | 348 | 0.0029 | 0 | c.166 others(4): Show |
p.Ala others(6): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 11/14 | 1730/6215 | 1666/2175 | 556/724 | chr15 | TogoVar | |||
ACSBG1_chr15_78162468_78239565 | 78178692 | C | T | missense_variant | MODERATE | HG02572.hp2 | a0005 | a0005c0015 | a0005c0015t0026 | a0005c0015t0026g0115 | 1 | 348 | 0.0029 | 0 | c.162 others(4): Show |
p.Glu others(6): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 11/14 | 1688/6215 | 1624/2175 | 542/724 | chr15 | TogoVar | |||
ACSBG1_chr15_78162468_78239565 | 78180818 | C | T | missense_variant | MODERATE | HG00609.hp1 | a0004 | a0004c0014 | a0004c0014t0003 | a0004c0014t0003g0134 | 1 | 348 | 0.0029 | 0 | c.119 others(4): Show |
p.Arg others(6): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 9/14 | 1254/6215 | 1190/2175 | 397/724 | chr15 | TogoVar | |||
ACSBG1_chr15_78162468_78239565 | 78193552 | T | C | missense_variant | MODERATE | NA18965.hp1 | a0008 | a0008c0022 | a0008c0022t0001 | a0008c0022t0001g0105 | 1 | 348 | 0.0029 | 0 | c.617 others(3): Show |
p.Asn others(6): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 5/14 | 681/6215 | 617/2175 | 206/724 | chr15 | TogoVar | |||
ACSBG1_chr15_78162468_78239565 | 78194700 | C | T | missense_variant | MODERATE | NA18747.hp1 | a0007 | a0007c0012 | a0007c0012t0001 | a0007c0012t0001g0254 | 1 | 348 | 0.0029 | 0 | c.259 others(3): Show |
p.Asp others(5): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 3/14 | 323/6215 | 259/2175 | 87/724 | chr15 | TogoVar | |||
ACSBG1_chr15_78162468_78239565 | 78234462 | C | T | missense_variant | MODERATE | NA18980.hp1 | a0009 | a0009c0011 | a0009c0011t0001 | a0009c0011t0001g0007 | 1 | 348 | 0.0029 | 0 | c.40G others(2): Show |
p.Gly others(5): Show |
ACSBG1 | ENSG00000103740.10 | transcript | ENST00000258873.9 | protein_coding | 1/14 | 104/6215 | 40/2175 | 14/724 | chr15 | TogoVar | |||
ACSBG2_chr19_6130667_6198091 | 6141562 | A | G | missense_variant | MODERATE | NA18945.hp2 NA18974.hp2 |
a0011 | a0011c0014 | a0011c0014t0001 | a0011c0014t0001g0119 a0011c0014t0001g0246 |
2 | 260 | 0.0077 | 0 | c.19A others(2): Show |
p.Thr others(4): Show |
ACSBG2 | ENSG00000130377.14 | transcript | ENST00000588485.6 | protein_coding | 2/15 | 293/2734 | 19/2001 | 7/666 | chr19 | TogoVar |