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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABTB2_chr11_34145987_34363010 | 34306236 | A | ATTT | intron_variant | MODIFIER | HG00609.hp2 HG02145.hp1 HG02145.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0004t0001others(4): Show | a0001c0001t0001g0050 a0001c0001t0001g0056 a0001c0001t0001g0087 others(10): Show |
13 | 74 | 0.1757 | 3 | c.883 others(22): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34317761 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(101): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0010 others(101): Show |
104 | 142 | 0.7324 | 3 | c.883 others(22): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107360930 | A | ATTT | intron_variant | MODIFIER | HG01074.hp2 HG01081.hp2 HG01099.hp1 others(22): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0011a0001c0012others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(22): Show |
25 | 37 | 0.6757 | 3 | c.113 others(24): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107375422 | A | AATC | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp2 HG01081.hp1 others(28): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0002others(21): Show | a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0073 others(28): Show |
31 | 56 | 0.5536 | 3 | c.113 others(24): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107387948 | T | TCTC | intron_variant | MODIFIER | HG02698.hp1 HG02965.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008 a0001c0001t0002g0042 |
2 | 186 | 0.0108 | 3 | c.113 others(24): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107387952 | C | CTCT | intron_variant | MODIFIER | HG01109.hp2 HG02486.hp2 HG02630.hp1 |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0003t0002a0002c0002t0001 | a0001c0001t0001g0070 a0001c0003t0002g0095 a0002c0002t0001g0120 |
3 | 181 | 0.0166 | 3 | c.113 others(24): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107401914 | G | GTTT | intron_variant | MODIFIER | HG01109.hp2 HG02074.hp2 HG02630.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0070 a0001c0001t0002g0093 others(4): Show |
7 | 112 | 0.0625 | 3 | c.113 others(24): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107404178 | A | AAAG | intron_variant | MODIFIER | HG02559.hp1 HG02622.hp2 HG02647.hp2 others(3): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0002a0002c0002t0036a0003c0004t0011others(2): Show | a0001c0001t0002g0152 a0002c0002t0036g0170 a0003c0004t0011g0155 others(3): Show |
6 | 186 | 0.0323 | 3 | c.113 others(24): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107410226 | T | TAAA | intron_variant | MODIFIER | HG00423.hp2 HG00609.hp2 HG00621.hp2 others(37): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0011 a0001c0001t0001g0026 a0001c0001t0001g0073 others(37): Show |
40 | 146 | 0.2740 | 3 | c.113 others(24): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107441774 | C | CAAA | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG02717.hp2 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0018a0004c0005others(1): Show | a0001c0001t0002a0002c0018t0020a0004c0005t0008others(1): Show | a0001c0001t0002g0096 a0001c0001t0002g0152 a0002c0018t0020g0168 others(2): Show |
5 | 132 | 0.0379 | 3 | c.113 others(24): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107519331 | C | CTTT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00621.hp1 others(39): Show |
a0003a0005a0006others(4): Show | a0003c0004a0003c0006a0003c0008others(10): Show | a0003c0004t0001a0003c0004t0002a0003c0004t0003others(23): Show | a0003c0004t0001g0024 a0003c0004t0001g0040 a0003c0004t0002g0076 others(39): Show |
42 | 163 | 0.2577 | 3 | c.113 others(22): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107608944 | A | AAAT | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp2 HG02976.hp2 |
a0004 | a0004c0005 | a0004c0005t0009a0004c0005t0013 | a0004c0005t0009g0080 a0004c0005t0009g0094 a0004c0005t0013g0163 |
3 | 186 | 0.0161 | 3 | c.164 others(22): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107643402 | C | CAAA | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01109.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0003t0005others(9): Show | a0001c0001t0002g0082 a0001c0001t0002g0106 a0001c0001t0003g0015 others(10): Show |
13 | 95 | 0.1368 | 3 | c.292 others(22): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107643770 | T | TTTG | intron_variant | MODIFIER | HG00140.hp1 HG01361.hp2 HG01884.hp2 others(18): Show |
a0001a0002a0004others(5): Show | a0001c0011a0002c0015a0002c0033others(6): Show | a0001c0011t0031a0002c0015t0001a0002c0015t0007others(12): Show | a0001c0011t0031g0075 a0002c0015t0001g0043 a0002c0015t0007g0166 others(18): Show |
21 | 176 | 0.1193 | 3 | c.292 others(22): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 14/16 | chr12 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107656298 | C | CAAA | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp1 HG02965.hp2 others(2): Show |
a0001a0006a0010 | a0001c0011a0006c0010a0010c0022 | a0001c0011t0031a0006c0010t0003a0006c0010t0005others(1): Show | a0001c0011t0031g0075 a0006c0010t0003g0162 a0006c0010t0005g0090 others(2): Show |
5 | 85 | 0.0588 | 3 | c.310 others(22): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAA1_chr3_38117715_38142127 | 38121025 | C | CAGA | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00558.hp1 HG01109.hp2 others(27): Show |
a0001a0008 | a0001c0001a0001c0008a0008c0019 | a0001c0001t0001a0001c0008t0001a0008c0019t0001 | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0018 others(8): Show |
30 | 370 | 0.0811 | 3 | c.*20 others(14): Show |
ACAA1 | ENSG00000060971.19 | transcript | ENST00000333167.13 | protein_coding | 1689 | chr3 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49782547 | C | CAAA | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp2 others(55): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0005a0001c0001t0008a0001c0001t0017others(5): Show | a0001c0001t0005g0023 a0001c0001t0005g0025 a0001c0001t0005g0044 others(50): Show |
58 | 219 | 0.2648 | 3 | c.*12 others(14): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 10/10 | 1299 | chr18 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49802560 | C | CAAA | intron_variant | MODIFIER | HG00735.hp2 HG01192.hp2 HG01943.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0033 | a0001c0001t0003g0259 a0001c0001t0003g0275 a0001c0001t0003g0276 others(5): Show |
8 | 255 | 0.0314 | 3 | c.183 others(18): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49803239 | A | AAAT | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00597.hp2 others(46): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0008 a0001c0001t0001g0030 a0001c0001t0001g0140 others(42): Show |
49 | 116 | 0.4224 | 3 | c.17- others(16): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49803280 | A | ATAT | intron_variant | MODIFIER | HG00639.hp1 HG02698.hp2 HG03490.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0010a0003c0004t0010 | a0001c0001t0010g0010 a0001c0001t0010g0207 a0003c0004t0010g0203 others(1): Show |
7 | 430 | 0.0163 | 3 | c.17- others(16): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49815208 | C | CAAA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00597.hp1 others(84): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0093 a0001c0001t0002g0001 a0001c0001t0002g0004 others(57): Show |
87 | 275 | 0.3164 | 3 | c.-17 others(14): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1676 | chr18 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37080074 | C | CAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00438.hp2 others(87): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0053 a0001c0001t0001g0060 a0001c0001t0001g0077 others(87): Show |
90 | 172 | 0.5233 | 3 | c.*72 others(14): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 4917 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37104944 | G | GAAA | intron_variant | MODIFIER | HG00438.hp2 HG01361.hp2 HG02293.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0015others(1): Show | a0001c0001t0001g0198 a0001c0001t0001g0201 a0001c0001t0001g0205 others(6): Show |
9 | 148 | 0.0608 | 3 | c.656 others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 52/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37128023 | T | TAAA | intron_variant | MODIFIER | HG00609.hp1 HG01109.hp2 HG01433.hp1 others(11): Show |
a0001 | a0001c0002a0001c0003a0001c0012 | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0002t0001g0186 a0001c0002t0001g0253 a0001c0002t0001g0254 others(11): Show |
14 | 243 | 0.0576 | 3 | c.594 others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 47/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37157531 | C | CTTT | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG03041.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0011a0001c0001t0015others(1): Show | a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0091 others(5): Show |
8 | 99 | 0.0808 | 3 | c.535 others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 42/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37163196 | T | TAAA | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02572.hp1 others(4): Show |
a0001 | a0001c0002a0001c0003a0001c0015 | a0001c0002t0001a0001c0002t0008a0001c0003t0001others(1): Show | a0001c0002t0001g0133 a0001c0002t0001g0269 a0001c0002t0008g0042 others(4): Show |
7 | 89 | 0.0787 | 3 | c.508 others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37167119 | A | ATTT | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG01884.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0180 a0001c0002t0001g0133 a0001c0002t0001g0240 others(10): Show |
13 | 102 | 0.1275 | 3 | c.508 others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37174021 | T | TATA | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp2 HG01109.hp2 others(1): Show |
a0001 | a0001c0002a0001c0011 | a0001c0002t0001a0001c0002t0002a0001c0011t0019 | a0001c0002t0001g0186 a0001c0002t0002g0004 a0001c0002t0002g0023 others(1): Show |
4 | 277 | 0.0144 | 3 | c.507 others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37181900 | C | CAAA | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02280.hp2 others(15): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0047 a0001c0001t0001g0194 a0001c0001t0001g0208 others(15): Show |
18 | 133 | 0.1353 | 3 | c.477 others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 39/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37183848 | C | CTTT | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp2 HG02809.hp2 others(3): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0003a0001c0004t0005a0001c0004t0020others(1): Show | a0001c0001t0003g0112 a0001c0001t0003g0123 a0001c0004t0005g0190 others(3): Show |
6 | 252 | 0.0238 | 3 | c.477 others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 39/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37185402 | C | CTTT | intron_variant | MODIFIER | HG02647.hp1 HG02818.hp2 HG02970.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0004a0003c0008 | a0001c0001t0001a0001c0001t0003a0001c0001t0027others(3): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0187 others(7): Show |
10 | 139 | 0.0719 | 3 | c.477 others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 39/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37200378 | T | TAGC | intron_variant | MODIFIER | HG01891.hp1 HG02622.hp1 HG03041.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017 | a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0082 others(3): Show |
6 | 298 | 0.0201 | 3 | c.411 others(18): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 34/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37210751 | C | CAAA | intron_variant | MODIFIER | HG03491.hp2 HG03492.hp2 NA18966.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0003a0001c0002t0001a0001c0007t0003 | a0001c0001t0003g0112 a0001c0001t0003g0116 a0001c0001t0003g0121 others(9): Show |
12 | 87 | 0.1379 | 3 | c.368 others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 29/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37232864 | A | ATCC | intron_variant | MODIFIER | HG02451.hp1 HG03579.hp1 NA19240.hp1 |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0010a0003c0008t0003 | a0001c0001t0010g0094 a0001c0001t0010g0105 a0003c0008t0003g0248 |
3 | 298 | 0.0101 | 3 | c.324 others(22): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 25/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37248681 | G | GAAC | splice_region_variant others(1): Show |
LOW | HG01884.hp2 HG02055.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0008 | a0001c0002t0001g0133 a0001c0002t0001g0269 a0001c0002t0008g0039 others(2): Show |
5 | 298 | 0.0168 | 3 | c.208 others(17): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 16/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37287590 | A | AAAC | intron_variant | MODIFIER | HG03225.hp2 HG03491.hp2 HG03492.hp2 others(8): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0003a0001c0007t0003 | a0001c0001t0001g0139 a0001c0001t0001g0202 a0001c0001t0003g0121 others(8): Show |
11 | 200 | 0.0550 | 3 | c.339 others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37325579 | C | CTTT | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00735.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0047 a0001c0001t0001g0060 a0001c0001t0001g0077 others(33): Show |
36 | 160 | 0.2250 | 3 | c.338 others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37342434 | A | ATAT | intron_variant | MODIFIER | HG01433.hp1 HG02155.hp2 HG02486.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0001 | a0001c0001t0003g0045 a0001c0003t0001g0055 a0001c0003t0001g0062 others(3): Show |
6 | 277 | 0.0217 | 3 | c.39- others(18): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37342436 | A | AAAT | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG02080.hp2 others(4): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0012 | a0001c0003t0001g0061 a0001c0003t0001g0066 a0001c0003t0001g0070 others(4): Show |
7 | 205 | 0.0341 | 3 | c.39- others(18): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37342436 | A | ATAT | intron_variant | MODIFIER | HG00544.hp2 HG00621.hp2 HG01167.hp1 others(16): Show |
a0001 | a0001c0003a0001c0012 | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(4): Show | a0001c0003t0001g0057 a0001c0003t0001g0069 a0001c0003t0001g0071 others(16): Show |
19 | 217 | 0.0876 | 3 | c.39- others(18): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37352037 | T | TCTC | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01099.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0160 a0001c0001t0004g0161 a0001c0001t0004g0162 others(4): Show |
7 | 298 | 0.0235 | 3 | c.39- others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37353637 | T | TAAA | intron_variant | MODIFIER | HG00609.hp1 HG01981.hp2 HG02083.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0003g0116 a0001c0002t0001g0280 a0001c0002t0002g0037 others(4): Show |
7 | 34 | 0.2059 | 3 | c.39- others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390251 | T | TATA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00558.hp2 others(58): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0014a0001c0001t0027others(11): Show | a0001c0001t0001g0187 a0001c0001t0001g0193 a0001c0001t0001g0197 others(58): Show |
61 | 288 | 0.2118 | 3 | c.38+ others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390271 | A | AATT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(106): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(20): Show | a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0193 others(106): Show |
109 | 290 | 0.3759 | 3 | c.38+ others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390274 | A | ACAT | intron_variant | MODIFIER | HG01891.hp1 HG02622.hp1 HG02965.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0082 others(1): Show |
4 | 296 | 0.0135 | 3 | c.38+ others(20): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109133864 | T | TATA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG01081.hp2 others(5): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0003a0001c0038others(3): Show | a0001c0002t0001a0001c0003t0002a0001c0038t0001others(3): Show | a0001c0002t0001g0081 a0001c0002t0001g0106 a0001c0003t0002g0100 others(5): Show |
8 | 248 | 0.0323 | 3 | c.-9- others(18): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109140890 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(57): Show |
a0001a0002a0003others(14): Show | a0001c0010a0001c0012a0001c0013others(33): Show | a0001c0010t0002a0001c0012t0002a0001c0013t0001others(37): Show | a0001c0010t0002g0259 a0001c0012t0002g0045 a0001c0012t0002g0248 others(57): Show |
60 | 198 | 0.3030 | 3 | c.653 others(18): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109143462 | C | CAAA | intron_variant | MODIFIER | HG00438.hp1 HG01069.hp1 HG01175.hp2 others(21): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0003a0001c0022others(12): Show | a0001c0002t0001a0001c0003t0002a0001c0022t0004others(12): Show | a0001c0002t0001g0035 a0001c0002t0001g0114 a0001c0002t0001g0235 others(21): Show |
24 | 89 | 0.2697 | 3 | c.653 others(20): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109144750 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(68): Show |
a0001a0002a0003others(13): Show | a0001c0010a0001c0012a0001c0013others(37): Show | a0001c0010t0001a0001c0010t0002a0001c0010t0009others(44): Show | a0001c0010t0001g0187 a0001c0010t0002g0259 a0001c0010t0009g0188 others(68): Show |
71 | 144 | 0.4931 | 3 | c.653 others(20): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109152641 | T | TTTC | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG02056.hp1 others(5): Show |
a0001a0002a0004others(2): Show | a0001c0012a0001c0109a0002c0020others(4): Show | a0001c0012t0002a0001c0109t0002a0002c0020t0003others(4): Show | a0001c0012t0002g0045 a0001c0109t0002g0275 a0002c0020t0003g0120 others(5): Show |
8 | 306 | 0.0261 | 3 | c.653 others(22): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |