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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ANO8_chr19_17318223_17339855 | 17334661 | C | T | missense_variant | MODERATE | HG01515.hp2 HG01517.hp1 |
a0004 | a0004c0007 | a0004c0007t0004 | a0004c0007t0004g0028 | 2 | 364 | 0.0055 | 0 | c.10G others(2): Show |
p.Ala others(4): Show |
ANO8 | ENSG00000074855.11 | transcript | ENST00000159087.7 | protein_coding | 1/18 | 195/4178 | 10/3699 | 4/1232 | chr19 | TogoVar | ||
ANO9_chr11_412938_447011 | 419706 | T | C | missense_variant | MODERATE | HG00323.hp1 HG00738.hp2 HG01928.hp2 others(2): Show |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0144a0007c0008t0001g0158a0007c0008t0001g0161others(2): Show | 5 | 286 | 0.0175 | 0 | c.181 others(4): Show |
p.Thr others(6): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 20/23 | 1895/2867 | 1810/2349 | 604/782 | chr11 | TogoVar | ||
ANO9_chr11_412938_447011 | 428385 | A | G | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(261): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0006a0001c0013others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(255): Show | 264 | 286 | 0.9231 | 0 | c.119 others(4): Show |
p.Cys others(6): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 14/23 | 1280/2867 | 1195/2349 | 399/782 | chr11 | TogoVar | ||
ANO9_chr11_412938_447011 | 428489 | T | C | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(263): Show |
a0001a0002a0004others(9): Show | a0001c0001a0001c0006a0001c0013others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(256): Show | 266 | 286 | 0.9301 | 0 | c.117 others(4): Show |
p.Ile others(6): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 13/23 | 1256/2867 | 1171/2349 | 391/782 | chr11 | TogoVar | ||
ANO9_chr11_412938_447011 | 429587 | C | T | missense_variant | MODERATE | HG00609.hp2 | a0013 | a0013c0018 | a0013c0018t0001 | a0013c0018t0001g0176 | 1 | 286 | 0.0035 | 0 | c.898 others(3): Show |
p.Val others(6): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 11/23 | 983/2867 | 898/2349 | 300/782 | chr11 | TogoVar | ||
ANO9_chr11_412938_447011 | 430339 | C | G | missense_variant | MODERATE | HG00280.hp2 HG00323.hp2 HG01109.hp2 others(5): Show |
a0004a0014 | a0004c0004a0014c0022 | a0004c0004t0001a0014c0022t0001 | a0004c0004t0001g0030a0004c0004t0001g0034a0004c0004t0001g0035others(5): Show | 8 | 286 | 0.0280 | 0 | c.604 others(3): Show |
p.Val others(6): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 8/23 | 689/2867 | 604/2349 | 202/782 | chr11 | TogoVar | ||
ANO9_chr11_412938_447011 | 431757 | C | T | missense_variant | MODERATE | HG00609.hp2 HG02071.hp2 HG02135.hp2 others(3): Show |
a0005a0013 | a0005c0007a0013c0018 | a0005c0007t0001a0013c0018t0001 | a0005c0007t0001g0198a0005c0007t0001g0199a0005c0007t0001g0201others(3): Show | 6 | 286 | 0.0210 | 0 | c.476 others(3): Show |
p.Arg others(6): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/23 | 561/2867 | 476/2349 | 159/782 | chr11 | TogoVar | ||
ANO9_chr11_412938_447011 | 433357 | G | T | missense_variant | MODERATE | HG01943.hp1 HG02886.hp1 HG02970.hp2 others(2): Show |
a0008 | a0008c0012a0008c0015 | a0008c0012t0001a0008c0015t0001 | a0008c0012t0001g0190a0008c0012t0001g0191a0008c0012t0001g0192others(2): Show | 5 | 286 | 0.0175 | 0 | c.307 others(3): Show |
p.His others(6): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 4/23 | 392/2867 | 307/2349 | 103/782 | chr11 | TogoVar | ||
ANO9_chr11_412938_447011 | 433867 | G | A | missense_variant | MODERATE | HG00280.hp1 HG00280.hp2 HG00323.hp2 others(63): Show |
a0002a0004a0010others(1): Show | a0002c0002a0004c0004a0010c0014others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0007others(3): Show | a0002c0002t0001g0016a0002c0002t0001g0017a0002c0002t0001g0018others(63): Show | 66 | 286 | 0.2308 | 0 | c.152 others(3): Show |
p.Ala others(5): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 3/23 | 237/2867 | 152/2349 | 51/782 | chr11 | TogoVar | ||
ANO9_chr11_412938_447011 | 434082 | C | T | missense_variant | MODERATE | HG03486.hp1 | a0012 | a0012c0017 | a0012c0017t0003 | a0012c0017t0003g0010 | 1 | 286 | 0.0035 | 0 | c.23G others(2): Show |
p.Arg others(4): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 2/23 | 108/2867 | 23/2349 | 8/782 | chr11 | TogoVar | ||
ANOS1_chrX_8523874_8737137 | 8535772 | A | T | missense_variant | MODERATE | HG01081.hp2 | a0006 | a0006c0010 | a0006c0010t0001 | a0006c0010t0001g0040 | 1 | 231 | 0.0043 | 0 | c.166 others(4): Show |
p.Leu others(6): Show |
ANOS1 | ENSG00000011201.12 | transcript | ENST00000262648.8 | protein_coding | 12/14 | 1762/6265 | 1661/2043 | 554/680 | chrX | TogoVar | ||
ANOS1_chrX_8523874_8737137 | 8536792 | C | T | missense_variant | MODERATE | HG00140.hp1 HG00280.hp1 HG00544.hp2 others(122): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0004a0001c0011others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0012others(122): Show | 125 | 231 | 0.5411 | 0 | c.160 others(4): Show |
p.Val others(6): Show |
ANOS1 | ENSG00000011201.12 | transcript | ENST00000262648.8 | protein_coding | 11/14 | 1701/6265 | 1600/2043 | 534/680 | chrX | TogoVar | ||
ANOS1_chrX_8523874_8737137 | 8536860 | G | T | missense_variant | MODERATE | HG01168.hp1 HG01169.hp1 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0022a0003c0005t0001g0032 | 2 | 231 | 0.0087 | 0 | c.153 others(4): Show |
p.Ser others(6): Show |
ANOS1 | ENSG00000011201.12 | transcript | ENST00000262648.8 | protein_coding | 11/14 | 1633/6265 | 1532/2043 | 511/680 | chrX | TogoVar | ||
ANOS1_chrX_8523874_8737137 | 8554023 | G | A | missense_variant | MODERATE | HG02886.hp2 | a0005 | a0005c0012 | a0005c0012t0001 | a0005c0012t0001g0083 | 1 | 231 | 0.0043 | 0 | c.128 others(4): Show |
p.Pro others(6): Show |
ANOS1 | ENSG00000011201.12 | transcript | ENST00000262648.8 | protein_coding | 9/14 | 1384/6265 | 1283/2043 | 428/680 | chrX | TogoVar | ||
ANOS1_chrX_8523874_8737137 | 8554096 | C | T | missense_variant others(1): Show |
MODERATE | NA19062.hp1 | a0007 | a0007c0009 | a0007c0009t0003 | a0007c0009t0003g0201 | 1 | 231 | 0.0043 | 0 | c.121 others(4): Show |
p.Glu others(6): Show |
ANOS1 | ENSG00000011201.12 | transcript | ENST00000262648.8 | protein_coding | 9/14 | 1311/6265 | 1210/2043 | 404/680 | chrX | TogoVar | ||
ANOS1_chrX_8523874_8737137 | 8585308 | C | T | missense_variant | MODERATE | NA18989.hp1 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0153 | 1 | 231 | 0.0043 | 0 | c.815 others(3): Show |
p.Arg others(6): Show |
ANOS1 | ENSG00000011201.12 | transcript | ENST00000262648.8 | protein_coding | 6/14 | 916/6265 | 815/2043 | 272/680 | chrX | TogoVar | ||
ANOS1_chrX_8523874_8737137 | 8699739 | C | T | missense_variant | MODERATE | NA18906.hp2 | a0008 | a0008c0006 | a0008c0006t0006 | a0008c0006t0006g0219 | 1 | 231 | 0.0043 | 0 | c.214 others(3): Show |
p.Gly others(5): Show |
ANOS1 | ENSG00000011201.12 | transcript | ENST00000262648.8 | protein_coding | 2/14 | 315/6265 | 214/2043 | 72/680 | chrX | TogoVar | ||
ANP32B_chr9_97978341_98020943 | 97998654 | A | C | missense_variant | MODERATE | HG00642.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0069 | 1 | 310 | 0.0032 | 0 | c.303 others(3): Show |
p.Lys others(6): Show |
ANP32B | ENSG00000136938.9 | transcript | ENST00000339399.5 | protein_coding | 3/7 | 518/1483 | 303/756 | 101/251 | chr9 | TogoVar | ||
ANP32B_chr9_97978341_98020943 | 98005025 | A | C | missense_variant | MODERATE | NA20300.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0119 | 1 | 310 | 0.0032 | 0 | c.389 others(3): Show |
p.Asp others(6): Show |
ANP32B | ENSG00000136938.9 | transcript | ENST00000339399.5 | protein_coding | 4/7 | 604/1483 | 389/756 | 130/251 | chr9 | TogoVar | ||
ANP32B_chr9_97978341_98020943 | 98011368 | C | A | missense_variant | MODERATE | HG00408.hp2 | a0003 | a0003c0002 | a0003c0002t0002 | a0003c0002t0002g0061 | 1 | 310 | 0.0032 | 0 | c.615 others(3): Show |
p.Asp others(6): Show |
ANP32B | ENSG00000136938.9 | transcript | ENST00000339399.5 | protein_coding | 5/7 | 830/1483 | 615/756 | 205/251 | chr9 | TogoVar | ||
ANP32D_chr12_48467559_48478622 | 48472802 | A | C | missense_variant | MODERATE | HG00280.hp1 HG00323.hp2 HG00408.hp1 others(151): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0006 | a0002c0002t0002g0000a0002c0002t0006g0000 | 154 | 434 | 0.3548 | 0 | c.138 others(3): Show |
p.Leu others(5): Show |
ANP32D | ENSG00000139223.4 | transcript | ENST00000266594.4 | protein_coding | 1/1 | 244/1064 | 138/396 | 46/131 | chr12 | TogoVar | ||
ANP32D_chr12_48467559_48478622 | 48472939 | A | G | missense_variant | MODERATE | HG01167.hp1 HG01169.hp1 |
a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0000 | 2 | 434 | 0.0046 | 0 | c.275 others(3): Show |
p.His others(5): Show |
ANP32D | ENSG00000139223.4 | transcript | ENST00000266594.4 | protein_coding | 1/1 | 381/1064 | 275/396 | 92/131 | chr12 | TogoVar | ||
ANP32D_chr12_48467559_48478622 | 48473044 | A | T | missense_variant | MODERATE | NA21309.hp2 | a0004 | a0004c0007 | a0004c0007t0003 | a0004c0007t0003g0000 | 1 | 434 | 0.0023 | 0 | c.380 others(3): Show |
p.Asn others(6): Show |
ANP32D | ENSG00000139223.4 | transcript | ENST00000266594.4 | protein_coding | 1/1 | 486/1064 | 380/396 | 127/131 | chr12 | TogoVar | ||
ANP32E_chr1_150213417_150241112 | 150226747 | G | A | missense_variant | MODERATE | HG02896.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0059 | 1 | 370 | 0.0027 | 0 | c.542 others(3): Show |
p.Pro others(6): Show |
ANP32E | ENSG00000143401.15 | transcript | ENST00000583931.6 | protein_coding | 5/7 | 868/3407 | 542/807 | 181/268 | chr1 | TogoVar | ||
ANP32E_chr1_150213417_150241112 | 150229086 | T | A | missense_variant | MODERATE | HG02451.hp1 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0210 | 1 | 370 | 0.0027 | 0 | c.479 others(3): Show |
p.Glu others(6): Show |
ANP32E | ENSG00000143401.15 | transcript | ENST00000583931.6 | protein_coding | 4/7 | 805/3407 | 479/807 | 160/268 | chr1 | TogoVar | ||
ANP32E_chr1_150213417_150241112 | 150235767 | A | T | missense_variant | MODERATE | NA18949.hp1 | a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0039 | 1 | 370 | 0.0027 | 0 | c.20T others(2): Show |
p.Ile others(4): Show |
ANP32E | ENSG00000143401.15 | transcript | ENST00000583931.6 | protein_coding | 1/7 | 346/3407 | 20/807 | 7/268 | chr1 | TogoVar | ||
ANPEP_chr15_89779895_89819852 | 89790979 | C | A | missense_variant | MODERATE | NA18966.hp1 | a0024 | a0024c0053 | a0024c0053t0001 | a0024c0053t0001g0046 | 1 | 404 | 0.0025 | 0 | c.264 others(4): Show |
p.Gln others(6): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 19/21 | 2947/3662 | 2643/2904 | 881/967 | chr15 | TogoVar | ||
ANPEP_chr15_89779895_89819852 | 89792471 | C | G | missense_variant | MODERATE | HG03579.hp1 | a0031 | a0031c0046 | a0031c0046t0012 | a0031c0046t0012g0232 | 1 | 404 | 0.0025 | 0 | c.234 others(4): Show |
p.Glu others(6): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 17/21 | 2645/3662 | 2341/2904 | 781/967 | chr15 | TogoVar | ||
ANPEP_chr15_89779895_89819852 | 89792557 | C | T | missense_variant | MODERATE | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(111): Show |
a0000a0003a0006others(16): Show | a0000c0035a0003c0004a0003c0007others(28): Show | a0000c0035t0002a0003c0004t0002a0003c0004t0008others(34): Show | a0000c0035t0002g0180a0003c0004t0002g0012a0003c0004t0002g0023others(107): Show | 114 | 404 | 0.2822 | 0 | c.225 others(4): Show |
p.Ser others(6): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 17/21 | 2559/3662 | 2255/2904 | 752/967 | chr15 | TogoVar | ||
ANPEP_chr15_89779895_89819852 | 89801117 | C | T | missense_variant | MODERATE | HG01257.hp2 HG01258.hp2 |
a0013 | a0013c0020 | a0013c0020t0002 | a0013c0020t0002g0019 | 2 | 404 | 0.0050 | 0 | c.181 others(4): Show |
p.Val others(6): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 12/21 | 2117/3662 | 1813/2904 | 605/967 | chr15 | TogoVar | ||
ANPEP_chr15_89779895_89819852 | 89801121 | T | C | missense_variant | MODERATE | HG00408.hp1 HG00544.hp2 HG00597.hp1 others(103): Show |
a0004a0005a0008others(12): Show | a0004c0003a0004c0057a0005c0005others(17): Show | a0004c0003t0001a0004c0003t0009a0004c0057t0001others(21): Show | a0004c0003t0001g0002a0004c0003t0001g0018a0004c0003t0001g0021others(94): Show | 106 | 404 | 0.2624 | 0 | c.180 others(4): Show |
p.Ile others(6): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 12/21 | 2113/3662 | 1809/2904 | 603/967 | chr15 | TogoVar | ||
ANPEP_chr15_89779895_89819852 | 89801122 | A | T | missense_variant | MODERATE | HG01433.hp1 | a0017 | a0017c0034 | a0017c0034t0002 | a0017c0034t0002g0027 | 1 | 404 | 0.0025 | 0 | c.180 others(4): Show |
p.Ile others(6): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 12/21 | 2112/3662 | 1808/2904 | 603/967 | chr15 | TogoVar | ||
ANPEP_chr15_89779895_89819852 | 89801183 | C | T | missense_variant | MODERATE | HG00597.hp2 | a0023 | a0023c0051 | a0023c0051t0001 | a0023c0051t0001g0145 | 1 | 404 | 0.0025 | 0 | c.174 others(4): Show |
p.Val others(6): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 12/21 | 2051/3662 | 1747/2904 | 583/967 | chr15 | TogoVar | ||
ANPEP_chr15_89779895_89819852 | 89801507 | C | T | missense_variant | MODERATE | HG02647.hp1 | a0016 | a0016c0033 | a0016c0033t0002 | a0016c0033t0002g0225 | 1 | 404 | 0.0025 | 0 | c.167 others(4): Show |
p.Ser others(6): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 11/21 | 1974/3662 | 1670/2904 | 557/967 | chr15 | TogoVar | ||
ANPEP_chr15_89779895_89819852 | 89801519 | G | A | missense_variant | MODERATE | HG01952.hp1 | a0022 | a0022c0056 | a0022c0056t0002 | a0022c0056t0002g0252 | 1 | 404 | 0.0025 | 0 | c.165 others(4): Show |
p.Thr others(6): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 11/21 | 1962/3662 | 1658/2904 | 553/967 | chr15 | TogoVar | ||
ANPEP_chr15_89779895_89819852 | 89801553 | G | A | missense_variant | MODERATE | HG02886.hp1 | a0015 | a0015c0038 | a0015c0038t0002 | a0015c0038t0002g0312 | 1 | 404 | 0.0025 | 0 | c.162 others(4): Show |
p.Arg others(6): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 11/21 | 1928/3662 | 1624/2904 | 542/967 | chr15 | TogoVar | ||
ANPEP_chr15_89779895_89819852 | 89803709 | C | T | missense_variant | MODERATE | HG01993.hp2 | a0025 | a0025c0050 | a0025c0050t0002 | a0025c0050t0002g0322 | 1 | 404 | 0.0025 | 0 | c.137 others(4): Show |
p.Ala others(6): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 8/21 | 1679/3662 | 1375/2904 | 459/967 | chr15 | TogoVar | ||
ANPEP_chr15_89779895_89819852 | 89803769 | C | T | missense_variant | MODERATE | HG03927.hp1 | a0026 | a0026c0049 | a0026c0049t0002 | a0026c0049t0002g0238 | 1 | 404 | 0.0025 | 0 | c.131 others(4): Show |
p.Asp others(6): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 8/21 | 1619/3662 | 1315/2904 | 439/967 | chr15 | TogoVar | ||
ANPEP_chr15_89779895_89819852 | 89804303 | T | C | missense_variant | MODERATE | HG03654.hp2 | a0021 | a0021c0058 | a0021c0058t0002 | a0021c0058t0002g0032 | 1 | 404 | 0.0025 | 0 | c.112 others(4): Show |
p.Ser others(6): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 6/21 | 1433/3662 | 1129/2904 | 377/967 | chr15 | TogoVar | ||
ANPEP_chr15_89779895_89819852 | 89804402 | T | C | missense_variant | MODERATE | HG02080.hp2 | a0027 | a0027c0059 | a0027c0059t0002 | a0027c0059t0002g0167 | 1 | 404 | 0.0025 | 0 | c.103 others(4): Show |
p.Ile others(6): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 6/21 | 1334/3662 | 1030/2904 | 344/967 | chr15 | TogoVar | ||
ANPEP_chr15_89779895_89819852 | 89804536 | A | G | missense_variant | MODERATE | NA18971.hp2 NA19012.hp2 NA19079.hp2 |
a0018a0019a0028 | a0018c0031a0019c0032a0028c0048 | a0018c0031t0002a0019c0032t0001a0028c0048t0001 | a0018c0031t0002g0124a0019c0032t0001g0125a0028c0048t0001g0321 | 3 | 404 | 0.0074 | 0 | c.979 others(3): Show |
p.Phe others(6): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 5/21 | 1283/3662 | 979/2904 | 327/967 | chr15 | TogoVar | ||
ANPEP_chr15_89779895_89819852 | 89804578 | G | C | missense_variant | MODERATE | HG02630.hp2 | a0014 | a0014c0028 | a0014c0028t0003 | a0014c0028t0003g0231 | 1 | 404 | 0.0025 | 0 | c.937 others(3): Show |
p.His others(6): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 5/21 | 1241/3662 | 937/2904 | 313/967 | chr15 | TogoVar | ||
ANPEP_chr15_89779895_89819852 | 89804583 | G | A | missense_variant | MODERATE | HG01071.hp2 HG01106.hp2 HG01109.hp1 others(21): Show |
a0007a0009a0012others(5): Show | a0007c0011a0007c0013a0007c0019others(12): Show | a0007c0011t0003a0007c0013t0003a0007c0013t0006others(13): Show | a0007c0011t0003g0009a0007c0011t0003g0072a0007c0011t0003g0083others(19): Show | 24 | 404 | 0.0594 | 0 | c.932 others(3): Show |
p.Ala others(6): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 5/21 | 1236/3662 | 932/2904 | 311/967 | chr15 | TogoVar | ||
ANPEP_chr15_89779895_89819852 | 89805104 | C | T | missense_variant | MODERATE | HG04199.hp1 | a0020 | a0020c0025 | a0020c0025t0001 | a0020c0025t0001g0058 | 1 | 404 | 0.0025 | 0 | c.871 others(3): Show |
p.Glu others(6): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 4/21 | 1175/3662 | 871/2904 | 291/967 | chr15 | TogoVar | ||
ANPEP_chr15_89779895_89819852 | 89806327 | C | T | missense_variant | MODERATE | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(205): Show |
a0000a0001a0003others(13): Show | a0000c0035a0001c0002a0001c0010others(34): Show | a0000c0035t0002a0001c0002t0001a0001c0002t0002others(43): Show | a0000c0035t0002g0180a0001c0002t0001g0004a0001c0002t0001g0005others(191): Show | 208 | 404 | 0.5149 | 0 | c.257 others(3): Show |
p.Arg others(5): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 2/21 | 561/3662 | 257/2904 | 86/967 | chr15 | TogoVar | ||
ANPEP_chr15_89779895_89819852 | 89806400 | C | A | missense_variant | MODERATE | HG03491.hp1 | a0033 | a0033c0061 | a0033c0061t0002 | a0033c0061t0002g0261 | 1 | 404 | 0.0025 | 0 | c.184 others(3): Show |
p.Ala others(5): Show |
ANPEP | ENSG00000166825.15 | transcript | ENST00000300060.7 | protein_coding | 2/21 | 488/3662 | 184/2904 | 62/967 | chr15 | TogoVar | ||
ANTKMT_chr16_716146_727590 | 721422 | C | A | missense_variant | MODERATE | HG01109.hp1 HG02451.hp1 HG02572.hp1 others(12): Show |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0003a0002c0003t0001g0005 | 15 | 392 | 0.0383 | 0 | c.148 others(3): Show |
p.Pro others(5): Show |
ANTKMT | ENSG00000103254.10 | transcript | ENST00000569529.6 | protein_coding | 1/5 | 277/870 | 148/708 | 50/235 | chr16 | TogoVar | ||
ANTKMT_chr16_716146_727590 | 721834 | G | A | missense_variant | MODERATE | HG03471.hp1 | a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0002 | 1 | 392 | 0.0026 | 0 | c.301 others(3): Show |
p.Ala others(6): Show |
ANTKMT | ENSG00000103254.10 | transcript | ENST00000569529.6 | protein_coding | 3/5 | 430/870 | 301/708 | 101/235 | chr16 | TogoVar | ||
ANTKMT_chr16_716146_727590 | 722126 | C | T | missense_variant | MODERATE | HG02280.hp2 | a0004 | a0004c0007 | a0004c0007t0001 | a0004c0007t0001g0002 | 1 | 392 | 0.0026 | 0 | c.451 others(3): Show |
p.Pro others(6): Show |
ANTKMT | ENSG00000103254.10 | transcript | ENST00000569529.6 | protein_coding | 4/5 | 580/870 | 451/708 | 151/235 | chr16 | TogoVar | ||
ANTXR1_chr2_69008179_69254327 | 69013519 | G | A | missense_variant | MODERATE | HG00408.hp2 HG00621.hp1 HG02735.hp1 others(13): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0003 | a0002c0002t0001g0006a0002c0002t0001g0034a0002c0002t0001g0073others(12): Show | 16 | 206 | 0.0777 | 0 | c.20G others(2): Show |
p.Arg others(4): Show |
ANTXR1 | ENSG00000169604.21 | transcript | ENST00000303714.9 | protein_coding | 1/18 | 341/5858 | 20/1695 | 7/564 | chr2 | TogoVar |