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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AMPH_chr7_38378704_38636373 | 38475369 | G | A | synonymous_variant | LOW | NA18999.hp2 | a0001 | a0001c0019 | a0001c0019t0003 | a0001c0019t0003g0198 | 1 | 288 | 0.0035 | 0 | c.552 others(3): Show |
p.Asn others(6): Show |
AMPH | ENSG00000078053.17 | transcript | ENST00000356264.7 | protein_coding | 7/21 | 574/3224 | 552/2088 | 184/695 | chr7 | TogoVar | ||
AMTN_chr4_70513569_70537743 | 70518789 | G | A | synonymous_variant | LOW | HG00621.hp1 | a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0003 | 1 | 458 | 0.0022 | 0 | c.12G others(2): Show |
p.Thr others(4): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 2/9 | 113/1009 | 12/630 | 4/209 | chr4 | TogoVar | ||
AMTN_chr4_70513569_70537743 | 70531272 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(120): Show |
a0001a0008a0009 | a0001c0002a0008c0012a0009c0010 | a0001c0002t0001a0001c0002t0006a0008c0012t0001others(1): Show | a0001c0002t0001g0001a0001c0002t0001g0011a0001c0002t0001g0015others(25): Show | 123 | 458 | 0.2686 | 0 | c.591 others(3): Show |
p.Ile others(6): Show |
AMTN | ENSG00000187689.10 | transcript | ENST00000339336.9 | protein_coding | 8/9 | 692/1009 | 591/630 | 197/209 | chr4 | TogoVar | ||
AMT_chr3_49411778_49427473 | 49417897 | C | T | synonymous_variant | LOW | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(78): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0002a0003c0004t0002 | a0001c0002t0002g0002a0001c0002t0002g0005a0001c0002t0002g0008others(4): Show | 81 | 358 | 0.2263 | 0 | c.954 others(3): Show |
p.Arg others(6): Show |
AMT | ENSG00000145020.16 | transcript | ENST00000273588.9 | protein_coding | 8/9 | 977/1997 | 954/1212 | 318/403 | chr3 | TogoVar | ||
AMT_chr3_49411778_49427473 | 49419143 | C | A | synonymous_variant | LOW | HG02055.hp2 | a0007 | a0007c0010 | a0007c0010t0001 | a0007c0010t0001g0039 | 1 | 358 | 0.0028 | 0 | c.705 others(3): Show |
p.Val others(6): Show |
AMT | ENSG00000145020.16 | transcript | ENST00000273588.9 | protein_coding | 7/9 | 728/1997 | 705/1212 | 235/403 | chr3 | TogoVar | ||
AMY1A_chr1_103650760_103669554 | 103657838 | T | C | synonymous_variant | LOW | HG03492.hp1 | a0000 | a0000c0007 | a0000c0007t0005 | a0000c0007t0005g0075 | 1 | 230 | 0.0044 | 0 | c.360 others(3): Show |
p.Asn others(6): Show |
AMY1A | ENSG00000237763.10 | transcript | ENST00000370083.9 | protein_coding | 4/11 | 575/1785 | 360/1536 | 120/511 | chr1 | TogoVar | ||
AMY1A_chr1_103650760_103669554 | 103657931 | T | C | synonymous_variant | LOW | HG03492.hp1 | a0000 | a0000c0007 | a0000c0007t0005 | a0000c0007t0005g0075 | 1 | 230 | 0.0044 | 0 | c.453 others(3): Show |
p.Phe others(6): Show |
AMY1A | ENSG00000237763.10 | transcript | ENST00000370083.9 | protein_coding | 4/11 | 668/1785 | 453/1536 | 151/511 | chr1 | TogoVar | ||
AMY1A_chr1_103650760_103669554 | 103657976 | T | C | synonymous_variant | LOW | HG03492.hp1 | a0000 | a0000c0007 | a0000c0007t0005 | a0000c0007t0005g0075 | 1 | 230 | 0.0044 | 0 | c.498 others(3): Show |
p.Tyr others(6): Show |
AMY1A | ENSG00000237763.10 | transcript | ENST00000370083.9 | protein_coding | 4/11 | 713/1785 | 498/1536 | 166/511 | chr1 | TogoVar | ||
AMY1A_chr1_103650760_103669554 | 103660444 | C | T | synonymous_variant | LOW | HG03491.hp1 NA20905.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0005 | 2 | 230 | 0.0087 | 0 | c.963 others(3): Show |
p.Gly others(6): Show |
AMY1A | ENSG00000237763.10 | transcript | ENST00000370083.9 | protein_coding | 7/11 | 1178/1785 | 963/1536 | 321/511 | chr1 | TogoVar | ||
AMY1A_chr1_103650760_103669554 | 103662737 | C | T | synonymous_variant | LOW | NA19011.hp2 NA19072.hp2 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0004 | 2 | 230 | 0.0087 | 0 | c.118 others(4): Show |
p.Gly others(6): Show |
AMY1A | ENSG00000237763.10 | transcript | ENST00000370083.9 | protein_coding | 9/11 | 1397/1785 | 1182/1536 | 394/511 | chr1 | TogoVar | ||
AMY1A_chr1_103650760_103669554 | 103662749 | C | T | synonymous_variant | LOW | HG02258.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0019 | 1 | 230 | 0.0044 | 0 | c.119 others(4): Show |
p.Val others(6): Show |
AMY1A | ENSG00000237763.10 | transcript | ENST00000370083.9 | protein_coding | 9/11 | 1409/1785 | 1194/1536 | 398/511 | chr1 | TogoVar | ||
AMY1A_chr1_103650760_103669554 | 103664508 | A | G | synonymous_variant | LOW | HG00642.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0009 | 1 | 230 | 0.0044 | 0 | c.152 others(4): Show |
p.Glu others(6): Show |
AMY1A | ENSG00000237763.10 | transcript | ENST00000370083.9 | protein_coding | 11/11 | 1739/1785 | 1524/1536 | 508/511 | chr1 | TogoVar | ||
AMY1C_chr1_103744898_103763692 | 103756812 | T | C | synonymous_variant | LOW | HG02647.hp1 HG03579.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0026 | 2 | 340 | 0.0059 | 0 | c.111 others(4): Show |
p.Val others(6): Show |
AMY1C | ENSG00000187733.7 | transcript | ENST00000622339.5 | protein_coding | 9/11 | 1334/1785 | 1119/1536 | 373/511 | chr1 | TogoVar | ||
AMY2A_chr1_103612427_103630780 | 103617573 | C | A | synonymous_variant | LOW | HG01516.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0064 | 1 | 312 | 0.0032 | 0 | c.133 others(3): Show |
p.Arg others(5): Show |
AMY2A | ENSG00000243480.8 | transcript | ENST00000414303.7 | protein_coding | 1/10 | 147/1584 | 133/1536 | 45/511 | chr1 | TogoVar | ||
AMY2A_chr1_103612427_103630780 | 103617587 | G | C | synonymous_variant | LOW | HG03209.hp2 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0004 | 1 | 312 | 0.0032 | 0 | c.147 others(3): Show |
p.Pro others(5): Show |
AMY2A | ENSG00000243480.8 | transcript | ENST00000414303.7 | protein_coding | 1/10 | 161/1584 | 147/1536 | 49/511 | chr1 | TogoVar | ||
AMY2A_chr1_103612427_103630780 | 103620640 | C | G | synonymous_variant | LOW | HG01099.hp1 HG01361.hp1 HG03239.hp2 |
a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0002 | 3 | 312 | 0.0096 | 0 | c.834 others(3): Show |
p.Gly others(6): Show |
AMY2A | ENSG00000243480.8 | transcript | ENST00000414303.7 | protein_coding | 5/10 | 848/1584 | 834/1536 | 278/511 | chr1 | TogoVar | ||
AMY2A_chr1_103612427_103630780 | 103623874 | T | C | synonymous_variant | LOW | HG00323.hp2 HG00642.hp2 HG00733.hp2 others(55): Show |
a0001a0002a0009 | a0001c0002a0001c0010a0001c0011others(2): Show | a0001c0002t0001a0001c0010t0001a0001c0011t0001others(2): Show | a0001c0002t0001g0003a0001c0002t0001g0004a0001c0002t0001g0006others(20): Show | 58 | 312 | 0.1859 | 0 | c.111 others(4): Show |
p.Asn others(6): Show |
AMY2A | ENSG00000243480.8 | transcript | ENST00000414303.7 | protein_coding | 8/10 | 1124/1584 | 1110/1536 | 370/511 | chr1 | TogoVar | ||
AMY2A_chr1_103612427_103630780 | 103625659 | C | T | synonymous_variant | LOW | HG02145.hp1 HG02717.hp2 HG02818.hp2 others(7): Show |
a0001a0004 | a0001c0005a0004c0007 | a0001c0005t0001a0004c0007t0001 | a0001c0005t0001g0001a0001c0005t0001g0005a0004c0007t0001g0005 | 10 | 312 | 0.0321 | 0 | c.144 others(4): Show |
p.Tyr others(6): Show |
AMY2A | ENSG00000243480.8 | transcript | ENST00000414303.7 | protein_coding | 10/10 | 1463/1584 | 1449/1536 | 483/511 | chr1 | TogoVar | ||
AMY2B_chr1_103566589_103584534 | 103571693 | C | T | synonymous_variant | LOW | HG02559.hp1 | a0001 | a0001c0018 | a0001c0018t0001 | a0001c0018t0001g0002 | 1 | 408 | 0.0025 | 0 | c.91C others(2): Show |
p.Leu others(5): Show |
AMY2B | ENSG00000240038.8 | transcript | ENST00000684275.1 | protein_coding | 1/10 | 105/1584 | 91/1536 | 31/511 | chr1 | TogoVar | ||
AMY2B_chr1_103566589_103584534 | 103571749 | C | G | synonymous_variant | LOW | HG02976.hp1 HG03471.hp1 HG03688.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0002a0001c0003t0001g0026 | 6 | 408 | 0.0147 | 0 | c.147 others(3): Show |
p.Pro others(5): Show |
AMY2B | ENSG00000240038.8 | transcript | ENST00000684275.1 | protein_coding | 1/10 | 161/1584 | 147/1536 | 49/511 | chr1 | TogoVar | ||
AMY2B_chr1_103566589_103584534 | 103573791 | T | C | synonymous_variant | LOW | HG00323.hp1 HG00642.hp1 HG00733.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0005a0001c0002t0001g0035a0001c0002t0001g0038others(3): Show | 11 | 408 | 0.0270 | 0 | c.597 others(3): Show |
p.Asn others(6): Show |
AMY2B | ENSG00000240038.8 | transcript | ENST00000684275.1 | protein_coding | 4/10 | 611/1584 | 597/1536 | 199/511 | chr1 | TogoVar | ||
AMY2B_chr1_103566589_103584534 | 103575471 | T | A | synonymous_variant | LOW | HG01074.hp2 HG01358.hp1 |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0005 | 2 | 408 | 0.0049 | 0 | c.103 others(4): Show |
p.Leu others(6): Show |
AMY2B | ENSG00000240038.8 | transcript | ENST00000684275.1 | protein_coding | 7/10 | 1046/1584 | 1032/1536 | 344/511 | chr1 | TogoVar | ||
AMY2B_chr1_103566589_103584534 | 103575474 | T | C | synonymous_variant | LOW | HG02622.hp2 NA20129.hp1 |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0027 | 2 | 408 | 0.0049 | 0 | c.103 others(4): Show |
p.Ala others(6): Show |
AMY2B | ENSG00000240038.8 | transcript | ENST00000684275.1 | protein_coding | 7/10 | 1049/1584 | 1035/1536 | 345/511 | chr1 | TogoVar | ||
AMY2B_chr1_103566589_103584534 | 103577789 | C | T | synonymous_variant | LOW | HG03516.hp2 HG03579.hp2 |
a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0005 | 2 | 408 | 0.0049 | 0 | c.129 others(4): Show |
p.Asn others(6): Show |
AMY2B | ENSG00000240038.8 | transcript | ENST00000684275.1 | protein_coding | 9/10 | 1304/1584 | 1290/1536 | 430/511 | chr1 | TogoVar | ||
AMZ1_chr7_2683202_2724683 | 2700643 | C | T | synonymous_variant | LOW | NA18939.hp2 | a0001 | a0001c0053 | a0001c0053t0002 | a0001c0053t0002g0246 | 1 | 438 | 0.0023 | 0 | c.192 others(3): Show |
p.Phe others(5): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 2/7 | 505/8615 | 192/1497 | 64/498 | chr7 | TogoVar | ||
AMZ1_chr7_2683202_2724683 | 2700664 | C | T | synonymous_variant | LOW | HG02970.hp2 | a0002 | a0002c0052 | a0002c0052t0041 | a0002c0052t0041g0165 | 1 | 438 | 0.0023 | 0 | c.213 others(3): Show |
p.Pro others(5): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 2/7 | 526/8615 | 213/1497 | 71/498 | chr7 | TogoVar | ||
AMZ1_chr7_2683202_2724683 | 2702738 | G | A | synonymous_variant | LOW | HG01109.hp1 | a0002 | a0002c0027 | a0002c0027t0116 | a0002c0027t0116g0322 | 1 | 438 | 0.0023 | 0 | c.321 others(3): Show |
p.Pro others(6): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 3/7 | 634/8615 | 321/1497 | 107/498 | chr7 | TogoVar | ||
AMZ1_chr7_2683202_2724683 | 2702777 | A | G | synonymous_variant | LOW | HG01167.hp2 HG02257.hp2 HG02559.hp1 others(15): Show |
a0001a0002a0006others(1): Show | a0001c0009a0001c0050a0002c0010others(3): Show | a0001c0009t0043a0001c0009t0047a0001c0009t0125others(12): Show | a0001c0009t0043g0156a0001c0009t0043g0157a0001c0009t0047g0152others(15): Show | 18 | 438 | 0.0411 | 0 | c.360 others(3): Show |
p.Thr others(6): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 3/7 | 673/8615 | 360/1497 | 120/498 | chr7 | TogoVar | ||
AMZ1_chr7_2683202_2724683 | 2708715 | C | T | splice_region_variant others(1): Show |
LOW | NA18968.hp2 NA18974.hp2 NA19011.hp1 others(4): Show |
a0001 | a0001c0008 | a0001c0008t0032a0001c0008t0033a0001c0008t0045others(1): Show | a0001c0008t0032g0303a0001c0008t0032g0304a0001c0008t0033g0302others(4): Show | 7 | 438 | 0.0160 | 0 | c.600 others(3): Show |
p.His others(6): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 4/7 | 913/8615 | 600/1497 | 200/498 | chr7 | TogoVar | ||
AMZ1_chr7_2683202_2724683 | 2709094 | C | T | synonymous_variant | LOW | HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0023 | a0001c0023t0035 | a0001c0023t0035g0326a0001c0023t0035g0327 | 2 | 438 | 0.0046 | 0 | c.621 others(3): Show |
p.Phe others(6): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 5/7 | 934/8615 | 621/1497 | 207/498 | chr7 | TogoVar | ||
AMZ1_chr7_2683202_2724683 | 2709124 | G | A | synonymous_variant | LOW | NA18944.hp1 NA19010.hp2 NA19087.hp2 |
a0001 | a0001c0013 | a0001c0013t0023 | a0001c0013t0023g0232a0001c0013t0023g0233a0001c0013t0023g0285 | 3 | 438 | 0.0069 | 0 | c.651 others(3): Show |
p.Ser others(6): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 5/7 | 964/8615 | 651/1497 | 217/498 | chr7 | TogoVar | ||
AMZ1_chr7_2683202_2724683 | 2709124 | G | C | synonymous_variant | LOW | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(153): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0009others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(58): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0010others(147): Show | 156 | 438 | 0.3562 | 0 | c.651 others(3): Show |
p.Ser others(6): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 5/7 | 964/8615 | 651/1497 | 217/498 | chr7 | TogoVar | ||
AMZ1_chr7_2683202_2724683 | 2709139 | T | G | synonymous_variant | LOW | HG03225.hp1 | a0002 | a0002c0034 | a0002c0034t0006 | a0002c0034t0006g0027 | 1 | 438 | 0.0023 | 0 | c.666 others(3): Show |
p.Pro others(6): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 5/7 | 979/8615 | 666/1497 | 222/498 | chr7 | TogoVar | ||
AMZ1_chr7_2683202_2724683 | 2709169 | C | T | synonymous_variant | LOW | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(163): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0009others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(67): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0010others(157): Show | 166 | 438 | 0.3790 | 0 | c.696 others(3): Show |
p.Asp others(6): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 5/7 | 1009/8615 | 696/1497 | 232/498 | chr7 | TogoVar | ||
AMZ1_chr7_2683202_2724683 | 2709684 | C | T | synonymous_variant | LOW | NA20805.hp2 | a0012 | a0012c0028 | a0012c0028t0060 | a0012c0028t0060g0314 | 1 | 438 | 0.0023 | 0 | c.816 others(3): Show |
p.Cys others(6): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 6/7 | 1129/8615 | 816/1497 | 272/498 | chr7 | TogoVar | ||
AMZ1_chr7_2683202_2724683 | 2712353 | G | A | synonymous_variant | LOW | NA18906.hp2 | a0001 | a0001c0050 | a0001c0050t0132 | a0001c0050t0132g0160 | 1 | 438 | 0.0023 | 0 | c.972 others(3): Show |
p.Ala others(6): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 7/7 | 1285/8615 | 972/1497 | 324/498 | chr7 | TogoVar | ||
AMZ1_chr7_2683202_2724683 | 2712383 | G | A | synonymous_variant | LOW | HG02132.hp2 HG02895.hp2 HG02897.hp2 |
a0001 | a0001c0023a0001c0031 | a0001c0023t0035a0001c0031t0001 | a0001c0023t0035g0326a0001c0023t0035g0327a0001c0031t0001g0096 | 3 | 438 | 0.0069 | 0 | c.100 others(4): Show |
p.Ala others(6): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 7/7 | 1315/8615 | 1002/1497 | 334/498 | chr7 | TogoVar | ||
AMZ1_chr7_2683202_2724683 | 2712392 | G | A | synonymous_variant | LOW | HG02559.hp2 HG02572.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0011 | a0001c0011t0019a0001c0011t0096 | a0001c0011t0019g0025a0001c0011t0019g0123a0001c0011t0019g0124others(2): Show | 5 | 438 | 0.0114 | 0 | c.101 others(4): Show |
p.Pro others(6): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 7/7 | 1324/8615 | 1011/1497 | 337/498 | chr7 | TogoVar | ||
AMZ1_chr7_2683202_2724683 | 2712410 | C | G | synonymous_variant | LOW | NA18983.hp1 | a0001 | a0001c0032 | a0001c0032t0001 | a0001c0032t0001g0231 | 1 | 438 | 0.0023 | 0 | c.102 others(4): Show |
p.Thr others(6): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 7/7 | 1342/8615 | 1029/1497 | 343/498 | chr7 | TogoVar | ||
AMZ1_chr7_2683202_2724683 | 2712419 | C | T | synonymous_variant | LOW | HG02280.hp2 HG03098.hp2 HG03486.hp1 |
a0002 | a0002c0015 | a0002c0015t0052a0002c0015t0053a0002c0015t0117 | a0002c0015t0052g0141a0002c0015t0053g0040a0002c0015t0117g0026 | 3 | 438 | 0.0069 | 0 | c.103 others(4): Show |
p.Ala others(6): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 7/7 | 1351/8615 | 1038/1497 | 346/498 | chr7 | TogoVar | ||
AMZ1_chr7_2683202_2724683 | 2712425 | C | T | synonymous_variant | LOW | HG00642.hp2 HG01243.hp2 HG03654.hp1 others(1): Show |
a0001a0002 | a0001c0021a0001c0042a0002c0041 | a0001c0021t0048a0001c0021t0141a0001c0042t0048others(1): Show | a0001c0021t0048g0071a0001c0021t0141g0064a0001c0042t0048g0051others(1): Show | 4 | 438 | 0.0091 | 0 | c.104 others(4): Show |
p.Ala others(6): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 7/7 | 1357/8615 | 1044/1497 | 348/498 | chr7 | TogoVar | ||
AMZ1_chr7_2683202_2724683 | 2712431 | G | A | synonymous_variant | LOW | HG00140.hp2 HG03139.hp2 |
a0001 | a0001c0018 | a0001c0018t0082a0001c0018t0159 | a0001c0018t0082g0238a0001c0018t0159g0029 | 2 | 438 | 0.0046 | 0 | c.105 others(4): Show |
p.Ser others(6): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 7/7 | 1363/8615 | 1050/1497 | 350/498 | chr7 | TogoVar | ||
AMZ1_chr7_2683202_2724683 | 2712476 | G | A | synonymous_variant | LOW | HG03654.hp1 HG03704.hp2 |
a0001 | a0001c0021 | a0001c0021t0048a0001c0021t0141 | a0001c0021t0048g0071a0001c0021t0141g0064 | 2 | 438 | 0.0046 | 0 | c.109 others(4): Show |
p.Ser others(6): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 7/7 | 1408/8615 | 1095/1497 | 365/498 | chr7 | TogoVar | ||
AMZ1_chr7_2683202_2724683 | 2712518 | G | A | synonymous_variant | LOW | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(76): Show |
a0001a0008a0015others(3): Show | a0001c0004a0001c0005a0001c0008others(7): Show | a0001c0004t0001a0001c0004t0002a0001c0004t0009others(31): Show | a0001c0004t0001g0378a0001c0004t0002g0003a0001c0004t0002g0037others(76): Show | 79 | 438 | 0.1804 | 0 | c.113 others(4): Show |
p.Ser others(6): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 7/7 | 1450/8615 | 1137/1497 | 379/498 | chr7 | TogoVar | ||
AMZ1_chr7_2683202_2724683 | 2712686 | C | T | synonymous_variant | LOW | HG03688.hp2 | a0001 | a0001c0040 | a0001c0040t0090 | a0001c0040t0090g0329 | 1 | 438 | 0.0023 | 0 | c.130 others(4): Show |
p.Asp others(6): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 7/7 | 1618/8615 | 1305/1497 | 435/498 | chr7 | TogoVar | ||
AMZ1_chr7_2683202_2724683 | 2712872 | G | A | synonymous_variant | LOW | HG02738.hp1 NA20752.hp1 NA20805.hp1 |
a0001 | a0001c0014 | a0001c0014t0046a0001c0014t0088 | a0001c0014t0046g0102a0001c0014t0046g0103a0001c0014t0088g0074 | 3 | 438 | 0.0069 | 0 | c.149 others(4): Show |
p.Glu others(6): Show |
AMZ1 | ENSG00000174945.14 | transcript | ENST00000683327.1 | protein_coding | 7/7 | 1804/8615 | 1491/1497 | 497/498 | chr7 | TogoVar | ||
AMZ2_chr17_68243043_68262155 | 68254411 | G | T | synonymous_variant | LOW | HG02698.hp1 NA20905.hp2 |
a0002 | a0002c0005 | a0002c0005t0002 | a0002c0005t0002g0008 | 2 | 438 | 0.0046 | 0 | c.594 others(3): Show |
p.Gly others(6): Show |
AMZ2 | ENSG00000196704.14 | transcript | ENST00000359904.8 | protein_coding | 5/7 | 1257/1932 | 594/1083 | 198/360 | chr17 | TogoVar | ||
AMZ2_chr17_68243043_68262155 | 68255801 | C | A | synonymous_variant | LOW | HG02738.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0002 | 1 | 438 | 0.0023 | 0 | c.852 others(3): Show |
p.Arg others(6): Show |
AMZ2 | ENSG00000196704.14 | transcript | ENST00000359904.8 | protein_coding | 6/7 | 1515/1932 | 852/1083 | 284/360 | chr17 | TogoVar | ||
AMZ2_chr17_68243043_68262155 | 68256909 | G | T | synonymous_variant | LOW | HG03453.hp2 NA19030.hp2 |
a0001 | a0001c0006 | a0001c0006t0009 | a0001c0006t0009g0026 | 2 | 438 | 0.0046 | 0 | c.102 others(4): Show |
p.Val others(6): Show |
AMZ2 | ENSG00000196704.14 | transcript | ENST00000359904.8 | protein_coding | 7/7 | 1686/1932 | 1023/1083 | 341/360 | chr17 | TogoVar | ||
AMZ2_chr17_68243043_68262155 | 68256954 | T | A | synonymous_variant | LOW | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(156): Show |
a0001a0004a0005 | a0001c0002a0001c0006a0004c0007others(1): Show | a0001c0002t0001a0001c0002t0010a0001c0006t0009others(2): Show | a0001c0002t0001g0001a0001c0002t0001g0003a0001c0002t0001g0010others(14): Show | 159 | 438 | 0.3630 | 0 | c.106 others(4): Show |
p.Ala others(6): Show |
AMZ2 | ENSG00000196704.14 | transcript | ENST00000359904.8 | protein_coding | 7/7 | 1731/1932 | 1068/1083 | 356/360 | chr17 | TogoVar |