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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACVR1_chr2_157731446_157881330 | 157764363 | C | CT | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG02165.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0088 a0001c0001t0001g0114 a0001c0001t0002g0092 others(3): Show |
6 | 174 | 0.0345 | 1 | c.106 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157773323 | C | CA | intron_variant | MODIFIER | HG02109.hp1 HG03098.hp2 HG06807.hp2 others(2): Show |
a0001 | a0001c0006 | a0001c0006t0006 | a0001c0006t0006g0022 a0001c0006t0006g0102 a0001c0006t0006g0103 others(2): Show |
5 | 174 | 0.0287 | 1 | c.643 others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 6/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157776468 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(145): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(145): Show |
148 | 174 | 0.8506 | 1 | c.543 others(9): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 5/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157794885 | C | CA | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02257.hp1 others(10): Show |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0001a0001c0002t0004a0001c0002t0011others(4): Show | a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0134 others(10): Show |
13 | 174 | 0.0747 | 1 | c.67+ others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157796221 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(77): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(13): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(77): Show |
80 | 174 | 0.4598 | 1 | c.67+ others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157798206 | C | CA | intron_variant | MODIFIER | HG01261.hp2 HG01884.hp2 HG02145.hp1 others(18): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0005others(6): Show | a0001c0002t0001g0032 a0001c0002t0003g0015 a0001c0002t0003g0017 others(18): Show |
21 | 174 | 0.1207 | 1 | c.67+ others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157799371 | C | CA | intron_variant | MODIFIER | HG00735.hp1 HG02055.hp1 HG02109.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(7): Show | a0001c0001t0001g0020 a0001c0001t0001g0082 a0001c0001t0001g0131 others(27): Show |
30 | 174 | 0.1724 | 1 | c.67+ others(6): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157803909 | A | AT | intron_variant | MODIFIER | HG01261.hp2 HG02055.hp1 HG02145.hp1 others(24): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0002t0015others(7): Show | a0001c0002t0001g0032 a0001c0002t0001g0033 a0001c0002t0001g0037 others(24): Show |
27 | 174 | 0.1552 | 1 | c.-7- others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157805820 | C | CT | intron_variant | MODIFIER | HG00735.hp1 HG01261.hp2 HG01891.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(10): Show | a0001c0001t0001g0082 a0001c0001t0001g0131 a0001c0001t0004g0164 others(28): Show |
31 | 174 | 0.1782 | 1 | c.-7- others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157807563 | A | AT | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp2 HG02257.hp1 others(7): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0002t0004a0001c0002t0011others(1): Show | a0001c0002t0001g0099 a0001c0002t0001g0100 a0001c0002t0001g0134 others(7): Show |
10 | 174 | 0.0575 | 1 | c.-7- others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157807576 | T | TA | intron_variant | MODIFIER | NA18981.hp1 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 a0001c0001t0001g0106 |
2 | 174 | 0.0115 | 1 | c.-7- others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157807854 | T | TG | intron_variant | MODIFIER | HG01074.hp1 HG01261.hp2 HG02155.hp2 others(28): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(9): Show | a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 others(28): Show |
31 | 174 | 0.1782 | 1 | c.-7- others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157808879 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(74): Show |
77 | 174 | 0.4425 | 1 | c.-7- others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157816437 | C | CA | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02965.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001a0001c0003t0004others(1): Show | a0001c0002t0001g0036 a0001c0002t0001g0142 a0001c0003t0001g0071 others(2): Show |
5 | 174 | 0.0287 | 1 | c.-8+ others(8): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157818001 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(75): Show |
78 | 174 | 0.4483 | 1 | c.-8+ others(7): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157819077 | C | CA | intron_variant | MODIFIER | HG00438.hp1 HG02622.hp2 HG02965.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0007a0001c0002t0001others(5): Show | a0001c0001t0002g0129 a0001c0001t0007g0112 a0001c0002t0001g0024 others(7): Show |
10 | 174 | 0.0575 | 1 | c.-18 others(9): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157828449 | C | CA | intron_variant | MODIFIER | HG01169.hp2 HG02109.hp1 HG02258.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0001t0012a0001c0002t0001others(11): Show | a0001c0001t0002g0154 a0001c0001t0012g0011 a0001c0002t0001g0029 others(18): Show |
21 | 174 | 0.1207 | 1 | c.-18 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157828758 | G | GT | intron_variant | MODIFIER | HG02486.hp2 HG02647.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0020 a0001c0002t0001g0037 a0001c0002t0001g0038 others(2): Show |
5 | 174 | 0.0287 | 1 | c.-18 others(11): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157830756 | A | AT | intron_variant | MODIFIER | HG00408.hp1 HG02074.hp2 HG02135.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0005t0001 | a0001c0001t0001g0127 a0001c0001t0002g0119 a0001c0005t0001g0123 |
3 | 174 | 0.0172 | 1 | c.-18 others(11): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157838084 | C | CT | intron_variant | MODIFIER | HG02080.hp1 HG02165.hp1 HG02486.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0088 a0001c0001t0002g0120 a0001c0002t0001g0029 others(12): Show |
15 | 174 | 0.0862 | 1 | c.-18 others(11): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157841218 | G | GA | intron_variant | MODIFIER | HG00735.hp1 HG02004.hp1 HG02109.hp1 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(8): Show | a0001c0001t0002g0086 a0001c0001t0002g0154 a0001c0001t0004g0164 others(24): Show |
27 | 174 | 0.1552 | 1 | c.-18 others(11): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157842026 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(123): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(22): Show | a0001c0001t0001g0020 a0001c0001t0001g0041 a0001c0001t0001g0042 others(123): Show |
126 | 174 | 0.7241 | 1 | c.-18 others(11): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157850388 | C | CA | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG02897.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0003a0001c0002t0015others(1): Show | a0001c0002t0001g0145 a0001c0002t0003g0094 a0001c0002t0003g0095 others(2): Show |
5 | 174 | 0.0287 | 1 | c.-18 others(11): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157851901 | A | AC | intron_variant | MODIFIER | HG03453.hp2 HG06807.hp1 |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0133 a0001c0002t0003g0135 |
2 | 174 | 0.0115 | 1 | c.-18 others(11): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157852498 | C | CA | intron_variant | MODIFIER | HG01243.hp2 HG01255.hp2 HG01884.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0052 a0001c0001t0001g0056 a0001c0001t0002g0051 others(21): Show |
24 | 174 | 0.1379 | 1 | c.-18 others(11): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157854722 | C | CA | intron_variant | MODIFIER | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0001others(5): Show | a0001c0001t0001g0116 a0001c0001t0010g0003 a0001c0002t0001g0025 others(9): Show |
12 | 174 | 0.0690 | 1 | c.-18 others(11): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157863336 | C | CT | intron_variant | MODIFIER | HG02257.hp2 HG02622.hp1 HG02809.hp2 others(5): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0003a0001c0003t0019 | a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0001g0033 others(5): Show |
8 | 174 | 0.0460 | 1 | c.-18 others(11): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157863867 | C | CT | intron_variant | MODIFIER | HG02647.hp1 HG02809.hp2 HG02965.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0012a0001c0002t0001a0001c0002t0020 | a0001c0001t0012g0012 a0001c0002t0001g0033 a0001c0002t0001g0034 others(3): Show |
6 | 174 | 0.0345 | 1 | c.-18 others(11): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157865795 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp2 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(17): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(74): Show |
77 | 174 | 0.4425 | 1 | c.-18 others(11): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157868504 | G | GC | intron_variant | MODIFIER | HG01074.hp1 HG02055.hp1 HG02698.hp1 others(2): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0005a0001c0002t0010a0001c0003t0005 | a0001c0002t0005g0001 a0001c0002t0005g0006 a0001c0002t0010g0008 others(2): Show |
5 | 174 | 0.0287 | 1 | c.-18 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157870271 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(163): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(31): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(163): Show |
166 | 174 | 0.9540 | 1 | c.-18 others(10): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157880236 | C | CA | upstream_gene_variant | MODIFIER | HG00735.hp2 HG02486.hp1 HG02559.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0002t0001a0001c0002t0015others(1): Show | a0001c0001t0002g0049 a0001c0001t0002g0154 a0001c0002t0001g0029 others(4): Show |
7 | 174 | 0.0402 | 1 | c.-46 others(6): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3907 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157880784 | C | CT | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(57): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(12): Show | a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0106 others(57): Show |
60 | 174 | 0.3448 | 1 | c.-51 others(6): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 4455 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147840383 | G | GA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00738.hp1 HG01123.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0001a0001c0002t0006others(1): Show | a0001c0001t0006g0094 a0001c0002t0001g0024 a0001c0002t0001g0025 others(20): Show |
23 | 338 | 0.0681 | 1 | c.-47 others(12): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 4645 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147842397 | T | TA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(104): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0151 others(102): Show |
107 | 338 | 0.3166 | 1 | c.-27 others(12): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 2631 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147844975 | C | CT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(225): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0002g0009 a0001c0001t0002g0013 a0001c0001t0002g0151 others(212): Show |
228 | 338 | 0.6746 | 1 | c.-17 others(10): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 53 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147845000 | G | GT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG01168.hp1 others(8): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0003g0194 a0001c0001t0004g0014 a0001c0001t0004g0184 others(8): Show |
11 | 338 | 0.0325 | 1 | c.-15 others(10): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 28 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147845012 | T | TG | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02630.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0018 | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0150 others(4): Show |
8 | 338 | 0.0237 | 1 | c.-14 others(10): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 16 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147857532 | T | TA | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01175.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0153 a0001c0001t0003g0278 a0001c0001t0003g0310 others(14): Show |
17 | 338 | 0.0503 | 1 | c.55+ others(9): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147859489 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00735.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0004g0014 a0001c0001t0004g0195 a0001c0001t0004g0264 others(15): Show |
20 | 338 | 0.0592 | 1 | c.55+ others(9): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147862369 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG01109.hp1 HG01168.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0014 a0001c0001t0004g0264 a0001c0001t0004g0265 others(3): Show |
7 | 338 | 0.0207 | 1 | c.55+ others(9): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147862743 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(98): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0006a0001c0002t0001a0001c0002t0006others(9): Show | a0001c0001t0006g0294 a0001c0002t0001g0004 a0001c0002t0001g0005 others(97): Show |
101 | 338 | 0.2988 | 1 | c.55+ others(9): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147875494 | T | TA | intron_variant | MODIFIER | HG00423.hp1 HG00738.hp1 HG01123.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0006a0001c0002t0001a0001c0002t0006others(1): Show | a0001c0001t0006g0094 a0001c0002t0001g0024 a0001c0002t0001g0025 others(21): Show |
24 | 338 | 0.0710 | 1 | c.56- others(9): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147878444 | C | CT | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG00733.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0016others(2): Show | a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 others(32): Show |
43 | 338 | 0.1272 | 1 | c.56- others(9): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147886771 | C | CT | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00738.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0006others(1): Show | a0001c0001t0002g0162 a0001c0001t0002g0201 a0001c0001t0002g0203 others(26): Show |
29 | 338 | 0.0858 | 1 | c.56- others(8): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147887211 | C | CA | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp1 HG02615.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0004a0001c0001t0005a0001c0001t0015others(3): Show | a0001c0001t0004g0010 a0001c0001t0004g0011 a0001c0001t0004g0150 others(8): Show |
12 | 338 | 0.0355 | 1 | c.56- others(8): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147891962 | T | TG | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG00733.hp2 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007a0001c0001t0016others(1): Show | a0001c0001t0003g0001 a0001c0001t0003g0002 a0001c0001t0003g0003 others(33): Show |
44 | 338 | 0.1302 | 1 | c.56- others(8): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147892888 | G | GT | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02109.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0179 a0001c0001t0004g0180 a0001c0001t0004g0198 others(5): Show |
8 | 338 | 0.0237 | 1 | c.56- others(8): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147893240 | A | AT | intron_variant | MODIFIER | HG00423.hp1 HG00738.hp1 HG01123.hp2 others(20): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006a0001c0002t0010 | a0001c0002t0001g0024 a0001c0002t0001g0025 a0001c0002t0001g0026 others(20): Show |
23 | 338 | 0.0681 | 1 | c.56- others(8): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147896397 | A | AT | frameshift_variant | HIGH | NA19075.hp2 | a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0111 | 1 | 338 | 0.0030 | 1 | c.153 others(4): Show |
p.Gly others(4): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 2/11 | 278/5214 | 154/1542 | 52/513 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |