| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ACVR2B_chr3_38448890_38498142 | 38492781 | CACACACA others(17): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG01928.hp1 HG02572.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0068a0001c0001t0111a0001c0001t0125others(4): Show | a0001c0001t0068g0053a0001c0001t0111g0012a0001c0001t0125g0009others(4): Show | 7 | 410 | 0.0171 | -24 | c.*94 others(35): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9454 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
| ACVR2B_chr3_38448890_38498142 | 38492783 | CACACACA others(15): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 NA18955.hp1 NA18966.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0022a0001c0001t0119a0001c0001t0145 | a0001c0001t0022g0012a0001c0001t0119g0072a0001c0001t0145g0094 | 5 | 410 | 0.0122 | -22 | c.*94 others(33): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9456 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
| ACVR2B_chr3_38448890_38498142 | 38492785 | CACACACA others(13): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00597.hp2 HG01106.hp1 HG01175.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0018a0001c0001t0030a0001c0001t0115others(1): Show | a0001c0001t0018g0010a0001c0001t0018g0030a0001c0001t0030g0006others(3): Show | 9 | 410 | 0.0220 | -20 | c.*94 others(31): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9458 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
| ACVR2B_chr3_38448890_38498142 | 38492787 | CACACACA others(11): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG02148.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0029a0001c0001t0158a0001c0001t0205others(2): Show | a0001c0001t0029g0013a0001c0001t0158g0006a0001c0001t0205g0099others(2): Show | 7 | 410 | 0.0171 | -18 | c.*94 others(29): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9460 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
| ACVR2B_chr3_38448890_38498142 | 38492789 | CACACACA others(9): Show |
C | 3_prime_UTR_variant | MODIFIER | HG00597.hp1 HG02647.hp2 HG03834.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0066a0001c0001t0114others(1): Show | a0001c0001t0008g0006a0001c0001t0008g0008a0001c0001t0008g0032others(4): Show | 8 | 410 | 0.0195 | -16 | c.*94 others(27): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9462 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
| ACVR2B_chr3_38448890_38498142 | 38492791 | CACACACA others(7): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02129.hp2 HG03239.hp2 NA18952.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0052a0001c0001t0110a0001c0001t0131others(3): Show | a0001c0001t0052g0006a0001c0001t0052g0008a0001c0001t0110g0028others(4): Show | 7 | 410 | 0.0171 | -14 | c.*94 others(25): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9464 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
| ACVR2B_chr3_38448890_38498142 | 38492793 | CACACACA others(5): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02132.hp1 HG03669.hp2 NA18965.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0212 | a0001c0001t0027g0008a0001c0001t0027g0070a0001c0001t0027g0101others(1): Show | 4 | 410 | 0.0098 | -12 | c.*94 others(23): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9466 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
| ACVR2B_chr3_38448890_38498142 | 38492795 | CACACACA others(3): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG02735.hp2 NA18747.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0006a0001c0001t0015g0013a0001c0001t0015g0071others(1): Show | 4 | 410 | 0.0098 | -10 | c.*94 others(21): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9468 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
| ACVR2B_chr3_38448890_38498142 | 38492797 | CACACACA others(1): Show |
C | 3_prime_UTR_variant | MODIFIER | HG01258.hp1 HG02056.hp1 NA18948.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0064a0001c0001t0166others(2): Show | a0001c0001t0026g0006a0001c0001t0026g0073a0001c0001t0064g0008others(3): Show | 8 | 410 | 0.0195 | -8 | c.*94 others(19): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9470 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
| ACVR2B_chr3_38448890_38498142 | 38492799 | CACACAT | C | 3_prime_UTR_variant | MODIFIER | HG00738.hp2 NA18949.hp1 NA18987.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0118a0001c0001t0132a0001c0001t0139others(1): Show | a0001c0001t0118g0078a0001c0001t0132g0005a0001c0001t0139g0018others(1): Show | 4 | 410 | 0.0098 | -6 | c.*94 others(17): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9472 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
| ACVR2B_chr3_38448890_38498142 | 38492803 | C | T | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01074.hp2 HG01981.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0017a0001c0001t0058a0001c0001t0174others(14): Show | a0001c0001t0017g0020a0001c0001t0017g0021a0001c0001t0017g0132others(18): Show | 21 | 410 | 0.0512 | 0 | c.*94 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9471 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38492803 | CAT | C | 3_prime_UTR_variant | MODIFIER | NA18963.hp2 NA19057.hp1 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0109a0001c0001t0138a0001c0001t0210 | a0001c0001t0109g0086a0001c0001t0138g0006a0001c0001t0210g0008 | 3 | 410 | 0.0073 | -2 | c.*94 others(13): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9473 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
| ACVR2B_chr3_38448890_38498142 | 38492805 | T | C | 3_prime_UTR_variant | MODIFIER | HG01361.hp2 NA18942.hp1 NA18967.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0067a0001c0001t0112others(2): Show | a0001c0001t0025g0006a0001c0001t0025g0098a0001c0001t0067g0056others(3): Show | 7 | 410 | 0.0171 | 0 | c.*94 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9473 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38492808 | A | C | 3_prime_UTR_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0212 | a0001c0001t0212g0008 | 1 | 410 | 0.0024 | 0 | c.*94 others(5): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9476 | chr3 | TogoVar | |||||
| ACVR2B_chr3_38448890_38498142 | 38493009 | CAAAT | C | 3_prime_UTR_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0063a0001c0004t0199a0001c0004t0200 | a0001c0004t0063g0025a0001c0004t0199g0064a0001c0004t0200g0060 | 4 | 410 | 0.0098 | -4 | c.*96 others(15): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9681 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||
| ACVRL1_chr12_51902504_51928361 | 51920926 | G | C | 3_prime_UTR_variant | MODIFIER | HG02896.hp1 HG02897.hp1 |
a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0041 | 2 | 438 | 0.0046 | 0 | c.*33 others(3): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 33 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51920951 | G | A | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG01074.hp1 HG01099.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0022a0001c0001t0010g0058 | 5 | 438 | 0.0114 | 0 | c.*58 others(3): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 58 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51921012 | C | T | 3_prime_UTR_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0087 | 1 | 438 | 0.0023 | 0 | c.*11 others(4): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 119 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51921153 | C | A | 3_prime_UTR_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0039 | 1 | 438 | 0.0023 | 0 | c.*26 others(4): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 260 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51921316 | C | T | 3_prime_UTR_variant | MODIFIER | HG02615.hp1 HG03471.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0049a0001c0001t0014g0122a0001c0001t0014g0124 | 3 | 438 | 0.0069 | 0 | c.*42 others(4): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 423 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51921384 | T | A | 3_prime_UTR_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0090 | 1 | 438 | 0.0023 | 0 | c.*49 others(4): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 491 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51921392 | T | G | 3_prime_UTR_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0005 | a0001c0005t0022 | a0001c0005t0022g0111 | 1 | 438 | 0.0023 | 0 | c.*49 others(4): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 499 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51921453 | T | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp2 others(146): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(23): Show | a0001c0001t0003g0002a0001c0001t0003g0010a0001c0001t0003g0035others(65): Show | 149 | 438 | 0.3402 | 0 | c.*56 others(4): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 560 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51921716 | C | T | 3_prime_UTR_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0008 | 1 | 438 | 0.0023 | 0 | c.*82 others(4): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 823 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51921738 | C | CT | 3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG01256.hp2 HG01258.hp1 others(23): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0006a0001c0001t0009a0001c0001t0028others(8): Show | a0001c0001t0006g0024a0001c0001t0006g0072a0001c0001t0009g0125others(16): Show | 26 | 438 | 0.0594 | 1 | c.*85 others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 857 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||
| ACVRL1_chr12_51902504_51928361 | 51921754 | C | T | 3_prime_UTR_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0047 | 1 | 438 | 0.0023 | 0 | c.*86 others(4): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 861 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51921755 | G | A | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02886.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0024a0001c0002t0013a0001c0002t0023others(1): Show | a0001c0001t0024g0088a0001c0002t0013g0031a0001c0002t0023g0089others(1): Show | 6 | 438 | 0.0137 | 0 | c.*86 others(4): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 862 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51921762 | C | T | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00738.hp1 HG00738.hp2 others(60): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(8): Show | a0001c0001t0004g0003a0001c0001t0004g0019a0001c0001t0004g0053others(26): Show | 63 | 438 | 0.1438 | 0 | c.*86 others(4): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 869 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51921806 | C | T | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00738.hp1 HG00738.hp2 others(60): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(8): Show | a0001c0001t0004g0003a0001c0001t0004g0019a0001c0001t0004g0053others(26): Show | 63 | 438 | 0.1438 | 0 | c.*91 others(4): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 913 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51921828 | G | C | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02886.hp1 HG02976.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0013a0001c0002t0023 | a0001c0002t0013g0031a0001c0002t0023g0089 | 4 | 438 | 0.0091 | 0 | c.*93 others(4): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 935 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51921842 | C | T | 3_prime_UTR_variant | MODIFIER | HG00733.hp2 HG01109.hp2 HG02257.hp2 others(13): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0008a0001c0001t0012a0001c0001t0014others(2): Show | a0001c0001t0008g0050a0001c0001t0008g0115a0001c0001t0008g0118others(10): Show | 16 | 438 | 0.0365 | 0 | c.*94 others(4): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 949 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51921885 | A | G | 3_prime_UTR_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0005 | a0001c0005t0022 | a0001c0005t0022g0111 | 1 | 438 | 0.0023 | 0 | c.*99 others(4): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 992 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51921914 | T | C | 3_prime_UTR_variant | MODIFIER | HG00733.hp2 HG01109.hp2 HG02257.hp2 others(13): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0008a0001c0001t0012a0001c0001t0014others(2): Show | a0001c0001t0008g0050a0001c0001t0008g0115a0001c0001t0008g0118others(10): Show | 16 | 438 | 0.0365 | 0 | c.*10 others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 1021 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51921934 | G | T | 3_prime_UTR_variant | MODIFIER | HG02040.hp1 NA18942.hp1 NA18953.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005a0001c0001t0005g0068a0001c0001t0005g0069others(1): Show | 22 | 438 | 0.0502 | 0 | c.*10 others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 1041 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51921935 | C | G | 3_prime_UTR_variant | MODIFIER | HG02040.hp1 NA18942.hp1 NA18953.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005a0001c0001t0005g0068a0001c0001t0005g0069others(1): Show | 22 | 438 | 0.0502 | 0 | c.*10 others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 1042 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51921935 | C | T | 3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG00738.hp1 HG00738.hp2 others(60): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0009others(8): Show | a0001c0001t0004g0003a0001c0001t0004g0019a0001c0001t0004g0053others(26): Show | 63 | 438 | 0.1438 | 0 | c.*10 others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 1042 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51922139 | T | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(293): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0002g0004a0001c0001t0002g0005a0001c0001t0002g0006others(122): Show | 296 | 438 | 0.6758 | 0 | c.*12 others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 1246 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51922167 | G | A | 3_prime_UTR_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0104 | 1 | 438 | 0.0023 | 0 | c.*12 others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 1274 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51922262 | C | T | 3_prime_UTR_variant | MODIFIER | NA18945.hp2 NA19003.hp2 |
a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0003a0001c0001t0018g0105 | 2 | 438 | 0.0046 | 0 | c.*13 others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 1369 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51922264 | G | A | 3_prime_UTR_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0032 | 1 | 438 | 0.0023 | 0 | c.*13 others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 1371 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51922267 | C | T | 3_prime_UTR_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0089 | 1 | 438 | 0.0023 | 0 | c.*13 others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 1374 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51922453 | A | C | 3_prime_UTR_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0009 | a0001c0001t0009g0125a0001c0002t0009g0018a0001c0002t0009g0034others(1): Show | 6 | 438 | 0.0137 | 0 | c.*15 others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 1560 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51922669 | C | T | 3_prime_UTR_variant | MODIFIER | HG01884.hp1 HG02886.hp1 HG02976.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0026a0001c0002t0013a0001c0002t0023 | a0001c0001t0026g0104a0001c0002t0013g0031a0001c0002t0023g0089 | 5 | 438 | 0.0114 | 0 | c.*17 others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 1776 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51922819 | T | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(75): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0017others(9): Show | a0001c0001t0003g0002a0001c0001t0003g0010a0001c0001t0003g0035others(27): Show | 78 | 438 | 0.1781 | 0 | c.*19 others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 1926 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51923174 | G | T | 3_prime_UTR_variant | MODIFIER | HG00738.hp1 HG01256.hp2 HG01258.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0011 | a0001c0002t0011g0018a0001c0002t0011g0091a0001c0002t0011g0092 | 5 | 438 | 0.0114 | 0 | c.*22 others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 2281 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51923206 | G | A | 3_prime_UTR_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0080 | 1 | 438 | 0.0023 | 0 | c.*23 others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 2313 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51923273 | C | G | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp1 others(58): Show |
a0001a0002a0003 | a0001c0001a0001c0011a0002c0007others(1): Show | a0001c0001t0003a0001c0011t0003a0002c0007t0003others(1): Show | a0001c0001t0003g0002a0001c0001t0003g0010a0001c0001t0003g0035others(16): Show | 61 | 438 | 0.1393 | 0 | c.*23 others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 2380 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51923291 | G | A | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00544.hp1 others(61): Show |
a0001a0002a0003 | a0001c0001a0001c0011a0002c0007others(1): Show | a0001c0001t0003a0001c0001t0017a0001c0001t0025others(3): Show | a0001c0001t0003g0002a0001c0001t0003g0010a0001c0001t0003g0035others(19): Show | 64 | 438 | 0.1461 | 0 | c.*23 others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 2398 | chr12 | TogoVar | |||||
| ACVRL1_chr12_51902504_51928361 | 51923315 | A | G | 3_prime_UTR_variant | MODIFIER | HG02615.hp1 HG03098.hp1 HG03209.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0014 | a0001c0001t0012g0049a0001c0001t0012g0106a0001c0001t0012g0123others(4): Show | 7 | 438 | 0.0160 | 0 | c.*24 others(5): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 10/10 | 2422 | chr12 | TogoVar | |||||
| ACY1_chr3_51978535_51994197 | 51989132 | A | T | 3_prime_UTR_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 338 | 0.0030 | 0 | c.*57 others(3): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 15/15 | 57 | chr3 | TogoVar |