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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABTB3_chr12_107313434_107664642 | 107623061 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG01109.hp2 HG01175.hp1 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0028others(8): Show | a0001c0001t0001g0026 a0001c0001t0001g0065 a0001c0001t0002g0042 others(14): Show |
17 | 157 | 0.1083 | 1 | c.263 others(10): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107623358 | C | CT | intron_variant | MODIFIER | HG01243.hp1 HG02056.hp1 HG02559.hp2 others(6): Show |
a0001a0002a0004 | a0001c0001a0001c0011a0002c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0070 a0001c0001t0002g0106 a0001c0001t0002g0157 others(6): Show |
9 | 89 | 0.1011 | 1 | c.263 others(10): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107626343 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(137): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0003a0001c0011others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(62): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0008 others(137): Show |
140 | 173 | 0.8092 | 1 | c.263 others(10): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 11/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107643402 | C | CA | intron_variant | MODIFIER | HG01175.hp1 HG02074.hp2 HG03471.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0002c0002t0007others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0026 a0001c0001t0001g0037 others(5): Show |
8 | 90 | 0.0889 | 1 | c.292 others(10): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107643752 | C | CT | intron_variant | MODIFIER | HG00621.hp1 HG01175.hp1 HG01433.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0002a0001c0001t0024a0002c0002t0010others(4): Show | a0001c0001t0002g0085 a0001c0001t0002g0086 a0001c0001t0002g0106 others(6): Show |
9 | 138 | 0.0652 | 1 | c.292 others(10): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107644925 | A | AT | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00621.hp2 others(31): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0011others(12): Show | a0001c0001t0024a0001c0003t0006a0001c0011t0004others(21): Show | a0001c0001t0024g0071 a0001c0003t0006g0148 a0001c0011t0004g0066 others(31): Show |
34 | 186 | 0.1828 | 1 | c.292 others(10): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107644972 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(30): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(7): Show | a0001c0001t0003a0001c0003t0005a0001c0003t0035others(16): Show | a0001c0001t0003g0015 a0001c0001t0003g0027 a0001c0001t0003g0029 others(30): Show |
33 | 101 | 0.3267 | 1 | c.292 others(10): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107653516 | C | CA | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG03139.hp1 others(2): Show |
a0001a0003a0015 | a0001c0001a0001c0011a0003c0021others(1): Show | a0001c0001t0021a0001c0011t0004a0001c0011t0006others(2): Show | a0001c0001t0021g0025 a0001c0011t0004g0066 a0001c0011t0006g0101 others(2): Show |
5 | 151 | 0.0331 | 1 | c.310 others(10): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107654914 | A | AT | intron_variant | MODIFIER | HG01169.hp2 HG01361.hp2 HG02055.hp1 others(15): Show |
a0001a0004a0007others(2): Show | a0001c0011a0004c0005a0007c0014others(3): Show | a0001c0011t0031a0004c0005t0008a0004c0005t0009others(8): Show | a0001c0011t0031g0075 a0004c0005t0008g0007 a0004c0005t0008g0012 others(15): Show |
18 | 185 | 0.0973 | 1 | c.310 others(10): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107655903 | A | AT | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG03139.hp1 others(1): Show |
a0001a0003a0015 | a0001c0011a0003c0021a0015c0023 | a0001c0011t0004a0001c0011t0006a0003c0021t0006others(1): Show | a0001c0011t0004g0066 a0001c0011t0006g0101 a0003c0021t0006g0151 others(1): Show |
4 | 186 | 0.0215 | 1 | c.310 others(20): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 16/16 | chr12 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107656298 | C | CA | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00609.hp2 others(59): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0011others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(34): Show | a0001c0001t0001g0011 a0001c0001t0002g0096 a0001c0001t0004g0030 others(59): Show |
62 | 142 | 0.4366 | 1 | c.310 others(10): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107657051 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(35): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(8): Show | a0001c0001t0003a0001c0003t0005a0001c0003t0035others(15): Show | a0001c0001t0003g0015 a0001c0001t0003g0027 a0001c0001t0003g0029 others(35): Show |
38 | 186 | 0.2043 | 1 | c.310 others(9): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107661491 | C | CA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(97): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0012others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(51): Show | a0001c0001t0001g0026 a0001c0001t0001g0034 a0001c0001t0001g0065 others(97): Show |
100 | 173 | 0.5780 | 1 | c.*37 others(12): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1850 | chr12 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107663444 | G | GT | downstream_gene_variant | MODIFIER | HG01496.hp1 NA19070.hp1 |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0003a0003c0006t0002 | a0001c0001t0003g0029 a0003c0006t0002g0139 |
2 | 186 | 0.0108 | 1 | c.*57 others(12): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 3803 | chr12 | TogoVar | |||||||
ACAA1_chr3_38117715_38142127 | 38124010 | C | CA | intron_variant | MODIFIER | HG01884.hp2 HG01952.hp2 HG02280.hp1 others(12): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0006t0001a0002c0002t0001 | a0001c0001t0001g0012 a0001c0001t0001g0049 a0001c0001t0001g0058 others(6): Show |
15 | 367 | 0.0409 | 1 | c.120 others(9): Show |
ACAA1 | ENSG00000060971.19 | transcript | ENST00000333167.13 | protein_coding | 11/11 | chr3 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49780507 | C | CT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp1 others(85): Show |
a0001a0004a0006 | a0001c0001a0004c0007a0006c0008 | a0001c0001t0002a0001c0001t0009a0001c0001t0013others(4): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 others(53): Show |
88 | 432 | 0.2037 | 1 | c.*33 others(12): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1656 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49782547 | C | CA | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00609.hp2 others(96): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0002a0001c0001t0009a0001c0001t0010others(9): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0005 others(62): Show |
99 | 260 | 0.3808 | 1 | c.*12 others(6): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 10/10 | 1299 | chr18 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49782847 | C | CA | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG02080.hp2 HG02683.hp1 others(8): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0010a0001c0001t0017a0001c0001t0025others(1): Show | a0001c0001t0010g0010 a0001c0001t0010g0207 a0001c0001t0017g0215 others(5): Show |
11 | 228 | 0.0482 | 1 | c.*99 others(5): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 10/10 | 999 | chr18 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49784116 | C | CA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(119): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(9): Show | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(96): Show |
122 | 431 | 0.2831 | 1 | c.111 others(9): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 9/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49787260 | T | TA | intron_variant | MODIFIER | HG00639.hp1 HG02698.hp2 HG03041.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0004a0001c0001t0010a0001c0001t0015others(2): Show | a0001c0001t0004g0181 a0001c0001t0010g0010 a0001c0001t0010g0207 others(5): Show |
11 | 231 | 0.0476 | 1 | c.954 others(7): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 8/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49787272 | A | AC | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(71): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(4): Show | a0001c0001t0003g0024 a0001c0001t0003g0043 a0001c0001t0003g0045 others(62): Show |
74 | 422 | 0.1754 | 1 | c.954 others(14): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 8/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49797265 | C | CT | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(165): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(17): Show | a0001c0001t0001g0100 a0001c0001t0003g0003 a0001c0001t0003g0024 others(145): Show |
168 | 428 | 0.3925 | 1 | c.312 others(8): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 3/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49798476 | T | TA | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp2 others(35): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0012a0001c0001t0029others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0008 a0001c0001t0001g0030 others(21): Show |
38 | 430 | 0.0884 | 1 | c.184 others(8): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49800890 | T | TA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(258): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0100 a0001c0001t0002g0001 a0001c0001t0002g0004 others(203): Show |
261 | 424 | 0.6156 | 1 | c.183 others(9): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49802560 | C | CA | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp2 HG01069.hp1 others(73): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0162 a0001c0001t0003g0003 a0001c0001t0003g0317 others(64): Show |
76 | 323 | 0.2353 | 1 | c.183 others(8): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49803908 | C | CT | intron_variant | MODIFIER | HG00544.hp2 HG01361.hp2 HG02056.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(4): Show | a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0146 others(6): Show |
10 | 166 | 0.0602 | 1 | c.17- others(8): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49805759 | C | CT | intron_variant | MODIFIER | HG01074.hp2 HG01884.hp1 HG02559.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(2): Show | a0001c0001t0002g0048 a0001c0001t0002g0085 a0001c0001t0006g0248 others(4): Show |
7 | 429 | 0.0163 | 1 | c.17- others(8): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49807982 | T | TA | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp2 HG02559.hp1 others(18): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0156 a0001c0001t0002g0085 a0001c0001t0002g0086 others(15): Show |
21 | 421 | 0.0499 | 1 | c.17- others(8): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49815208 | C | CA | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG01074.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0202 a0001c0001t0003g0003 a0001c0001t0003g0024 others(16): Show |
19 | 207 | 0.0918 | 1 | c.-17 others(12): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1676 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49816407 | C | CT | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(157): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0007 a0001c0001t0001g0018 a0001c0001t0001g0019 others(116): Show |
160 | 426 | 0.3756 | 1 | c.-29 others(12): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 2875 | chr18 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37080074 | C | CA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(51): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0187 a0001c0001t0001g0217 a0001c0001t0001g0290 others(51): Show |
54 | 136 | 0.3971 | 1 | c.*72 others(12): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 4917 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37080639 | G | GT | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01167.hp1 HG01358.hp2 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0008others(7): Show | a0001c0001t0001g0187 a0001c0002t0001g0133 a0001c0002t0001g0149 others(19): Show |
22 | 192 | 0.1146 | 1 | c.*66 others(12): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 4352 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37080788 | C | CT | downstream_gene_variant | MODIFIER | HG00621.hp2 HG00735.hp2 HG01169.hp1 others(33): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(7): Show | a0001c0001t0001g0136 a0001c0001t0001g0205 a0001c0001t0001g0225 others(33): Show |
36 | 289 | 0.1246 | 1 | c.*65 others(12): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 4203 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37084033 | C | CT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(36): Show |
a0001a0005 | a0001c0002a0001c0003a0001c0010others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0024others(4): Show | a0001c0002t0001g0080 a0001c0002t0001g0085 a0001c0002t0001g0087 others(36): Show |
39 | 149 | 0.2617 | 1 | c.*32 others(12): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 958 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37092273 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp2 others(124): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 others(124): Show |
127 | 292 | 0.4349 | 1 | c.689 others(10): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 54/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37094572 | A | AC | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00733.hp2 others(39): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(3): Show | a0001c0001t0001g0212 a0001c0001t0001g0223 a0001c0001t0003g0116 others(39): Show |
42 | 91 | 0.4615 | 1 | c.689 others(10): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 54/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37100630 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp2 others(93): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 others(93): Show |
96 | 294 | 0.3265 | 1 | c.656 others(10): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 52/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37101096 | A | AC | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp2 others(150): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 others(150): Show |
153 | 297 | 0.5152 | 1 | c.656 others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 52/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37102199 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00408.hp1 others(107): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 others(107): Show |
110 | 275 | 0.4000 | 1 | c.656 others(10): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 52/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37103882 | G | GC | intron_variant | MODIFIER | HG00733.hp1 HG01109.hp1 HG01358.hp2 others(17): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0005a0001c0004t0020a0001c0004t0030others(2): Show | a0001c0004t0005g0040 a0001c0004t0005g0044 a0001c0004t0005g0088 others(17): Show |
20 | 298 | 0.0671 | 1 | c.656 others(10): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 52/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37104944 | G | GA | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00558.hp2 others(27): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(6): Show | a0001c0001t0001g0194 a0001c0001t0001g0215 a0001c0001t0001g0220 others(27): Show |
30 | 169 | 0.1775 | 1 | c.656 others(10): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 52/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37114531 | T | TA | intron_variant | MODIFIER | HG00438.hp1 HG01099.hp2 HG01169.hp1 others(6): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(1): Show | a0001c0002t0001g0127 a0001c0002t0001g0128 a0001c0002t0001g0273 others(6): Show |
9 | 141 | 0.0638 | 1 | c.627 others(10): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 50/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37116167 | A | AT | intron_variant | MODIFIER | HG02257.hp1 HG02723.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0027 | a0001c0001t0001g0138 a0001c0001t0001g0260 a0001c0001t0001g0263 others(3): Show |
6 | 298 | 0.0201 | 1 | c.627 others(10): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 50/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37117789 | G | GT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp2 others(131): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 others(131): Show |
134 | 284 | 0.4718 | 1 | c.627 others(10): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 50/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37119895 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(123): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 others(123): Show |
126 | 295 | 0.4271 | 1 | c.627 others(10): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 50/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37126502 | T | TA | intron_variant | MODIFIER | HG00733.hp1 HG01109.hp1 HG01358.hp2 others(18): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0004t0005a0001c0004t0020others(3): Show | a0001c0001t0001g0196 a0001c0004t0005g0040 a0001c0004t0005g0044 others(18): Show |
21 | 298 | 0.0705 | 1 | c.594 others(9): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 47/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37128024 | C | CA | intron_variant | MODIFIER | HG00408.hp1 HG01069.hp2 HG01255.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0053 a0001c0001t0001g0139 a0001c0001t0002g0021 others(27): Show |
30 | 105 | 0.2857 | 1 | c.594 others(10): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 47/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37136942 | C | CA | intron_variant | MODIFIER | HG02080.hp2 HG02698.hp1 HG02896.hp1 others(8): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0003a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0003g0041 a0001c0002t0001g0254 a0001c0003t0001g0059 others(8): Show |
11 | 287 | 0.0383 | 1 | c.568 others(10): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 45/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37143207 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp2 others(136): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0053 others(136): Show |
139 | 296 | 0.4696 | 1 | c.567 others(10): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 45/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37143533 | T | TC | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0008 | a0001c0001t0001g0187 a0001c0002t0001g0133 a0001c0002t0001g0269 others(3): Show |
6 | 298 | 0.0201 | 1 | c.567 others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 45/55 | chr17 | TogoVar |