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 | 107564090 | C | CTGTGTG | intron_variant | MODIFIER | HG01175.hp2 HG02056.hp1 HG02717.hp1 others(5): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0015others(2): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(4): Show | a0001c0001t0001g0016 a0001c0001t0003g0015 a0002c0002t0001g0109 others(5): Show |
8 | 66 | 0.1212 | 6 | c.149 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107566648 | T | TACACAC | intron_variant | MODIFIER | HG01978.hp2 HG02015.hp2 HG02055.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0011others(7): Show | a0001c0001t0024a0001c0003t0005a0001c0011t0031others(8): Show | a0001c0001t0024g0071 a0001c0003t0005g0143 a0001c0011t0031g0075 others(8): Show |
11 | 100 | 0.1100 | 6 | c.149 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107643752 | C | CTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG02698.hp2 HG02738.hp2 others(2): Show |
a0001a0003a0005 | a0001c0001a0003c0004a0003c0006others(1): Show | a0001c0001t0001a0001c0001t0004a0003c0004t0011others(2): Show | a0001c0001t0001g0001 a0001c0001t0004g0031 a0003c0004t0011g0155 others(2): Show |
5 | 134 | 0.0373 | 6 | c.292 others(25): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107644972 | C | CTTTTTT | intron_variant | MODIFIER | HG00621.hp2 HG01361.hp2 HG02055.hp1 others(7): Show |
a0002a0004a0006others(3): Show | a0002c0002a0004c0005a0006c0010others(3): Show | a0002c0002t0012a0004c0005t0008a0004c0005t0009others(5): Show | a0002c0002t0012g0180 a0004c0005t0008g0012 a0004c0005t0009g0080 others(7): Show |
10 | 78 | 0.1282 | 6 | c.292 others(25): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107648380 | C | CCACACA | intron_variant | MODIFIER | HG00140.hp1 HG01361.hp1 HG01433.hp2 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0002c0002others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(11): Show | a0001c0001t0001g0008 a0001c0001t0001g0034 a0001c0001t0001g0037 others(16): Show |
19 | 61 | 0.3115 | 6 | c.292 others(23): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107654815 | T | TACACAC | intron_variant | MODIFIER | HG00423.hp1 HG01361.hp1 HG01496.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0002a0001c0001t0014a0001c0003t0002others(5): Show | a0001c0001t0002g0157 a0001c0001t0014g0154 a0001c0003t0002g0138 others(5): Show |
8 | 49 | 0.1633 | 6 | c.310 others(25): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107655256 | A | AATATAT | intron_variant | MODIFIER | HG01169.hp2 HG01257.hp2 HG01361.hp2 others(12): Show |
a0004a0007a0008others(1): Show | a0004c0005a0007c0014a0008c0013others(1): Show | a0004c0005t0008a0004c0005t0009a0004c0005t0013others(5): Show | a0004c0005t0008g0007 a0004c0005t0008g0009 a0004c0005t0008g0012 others(12): Show |
15 | 125 | 0.1200 | 6 | c.310 others(25): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 16/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49801785 | C | CATATAT | intron_variant | MODIFIER | HG00738.hp2 HG01358.hp1 HG01496.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0114 a0001c0001t0002g0055 a0001c0001t0002g0071 others(8): Show |
14 | 60 | 0.2333 | 6 | c.183 others(21): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
ACAA2_chr18_49777164_49818533 | 49803239 | A | AAATAAT | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp1 HG00621.hp2 others(123): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0029 a0001c0001t0001g0119 a0001c0001t0001g0121 others(92): Show |
126 | 193 | 0.6529 | 6 | c.17- others(19): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37119589 | A | AACACAC | intron_variant | MODIFIER | HG03130.hp1 HG04204.hp2 HG04228.hp2 others(2): Show |
a0001 | a0001c0002a0001c0003a0001c0007 | a0001c0002t0001a0001c0002t0002a0001c0002t0021others(2): Show | a0001c0002t0001g0155 a0001c0002t0002g0005 a0001c0002t0021g0036 others(2): Show |
5 | 40 | 0.1250 | 6 | c.627 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 50/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37128023 | T | TAAAAAA | intron_variant | MODIFIER | HG01358.hp1 HG02080.hp2 HG03831.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0002t0001others(2): Show | a0001c0001t0001g0194 a0001c0001t0006g0189 a0001c0001t0006g0207 others(7): Show |
10 | 239 | 0.0418 | 6 | c.594 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 47/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37202668 | C | CATATAT | intron_variant | MODIFIER | HG00639.hp1 HG02976.hp2 HG04199.hp2 others(3): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0002t0002a0001c0005t0001 | a0001c0002t0001g0097 a0001c0002t0001g0128 a0001c0002t0001g0171 others(3): Show |
6 | 266 | 0.0226 | 6 | c.405 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 33/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37216125 | A | AACACAC | intron_variant | MODIFIER | HG00558.hp1 HG01109.hp1 HG01884.hp1 others(18): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(7): Show | a0001c0001t0001g0180 a0001c0003t0001g0055 a0001c0003t0001g0067 others(18): Show |
21 | 158 | 0.1329 | 6 | c.368 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 29/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37216189 | C | CATGTGT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00609.hp2 others(51): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0060 a0001c0001t0001g0077 a0001c0001t0001g0084 others(51): Show |
54 | 227 | 0.2379 | 6 | c.368 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 29/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37268741 | C | CTATATA | intron_variant | MODIFIER | HG01175.hp2 HG01981.hp2 HG02723.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0018 | a0001c0002t0001g0050 a0001c0002t0001g0100 a0001c0003t0018g0022 |
3 | 193 | 0.0155 | 6 | c.111 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 10/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37268741 | C | CTATCTA | intron_variant | MODIFIER | HG03225.hp2 NA18970.hp2 NA19005.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0139 a0001c0002t0001g0149 a0001c0002t0001g0150 others(1): Show |
4 | 194 | 0.0206 | 6 | c.111 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 10/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37268743 | A | ATCTATC | intron_variant | MODIFIER | HG00558.hp1 NA18972.hp2 NA18990.hp1 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002a0001c0003t0012 | a0001c0003t0001g0055 a0001c0003t0001g0057 a0001c0003t0002g0015 others(1): Show |
4 | 242 | 0.0165 | 6 | c.111 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 10/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37269763 | G | GAAAAAA | intron_variant | MODIFIER | HG00733.hp1 HG01358.hp2 HG01884.hp1 others(28): Show |
a0001 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0180 a0001c0001t0001g0196 a0001c0001t0002g0007 others(28): Show |
31 | 181 | 0.1713 | 6 | c.111 others(23): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 10/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37280730 | A | AACACAC | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp2 HG00738.hp1 others(51): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0077 a0001c0001t0001g0099 a0001c0001t0001g0193 others(51): Show |
54 | 136 | 0.3971 | 6 | c.610 others(23): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 5/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37280761 | A | ACACACC | intron_variant | MODIFIER | HG02723.hp1 HG02818.hp2 HG02965.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0027 | a0001c0001t0001g0138 a0001c0001t0001g0260 a0001c0001t0002g0034 others(1): Show |
4 | 297 | 0.0135 | 6 | c.610 others(23): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 5/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37297546 | T | TATATAC | intron_variant | MODIFIER | HG00733.hp1 HG01358.hp2 HG02647.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0005a0001c0004t0030others(1): Show | a0001c0001t0001g0187 a0001c0004t0005g0044 a0001c0004t0005g0125 others(3): Show |
6 | 160 | 0.0375 | 6 | c.339 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37316302 | T | TACACAC | intron_variant | MODIFIER | HG00639.hp2 HG00642.hp2 HG01099.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0096 a0001c0001t0002g0021 a0001c0001t0003g0091 others(8): Show |
11 | 154 | 0.0714 | 6 | c.338 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37316333 | A | ACACACC | intron_variant | MODIFIER | HG02257.hp1 HG02723.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0027 | a0001c0001t0001g0138 a0001c0001t0001g0260 a0001c0001t0001g0263 others(3): Show |
6 | 297 | 0.0202 | 6 | c.338 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390175 | T | TACACAC | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01123.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0012 | a0001c0001t0004g0159 a0001c0001t0004g0160 a0001c0001t0004g0161 others(6): Show |
9 | 49 | 0.1837 | 6 | c.38+ others(23): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390175 | T | TATACAC | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00733.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0002t0001a0001c0004t0005others(2): Show | a0001c0001t0003g0182 a0001c0001t0003g0183 a0001c0002t0001g0154 others(7): Show |
10 | 50 | 0.2000 | 6 | c.38+ others(23): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37400740 | C | CTGTGTG | intron_variant | MODIFIER | HG00733.hp1 HG01168.hp1 HG01169.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0003a0001c0003t0001a0001c0004t0030 | a0001c0001t0003g0116 a0001c0003t0001g0130 a0001c0003t0001g0131 others(2): Show |
5 | 219 | 0.0228 | 6 | c.38+ others(21): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109133836 | C | CATATAT | intron_variant | MODIFIER | HG02080.hp1 HG02280.hp2 HG02723.hp1 others(5): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0049others(3): Show | a0001c0002t0001a0001c0003t0002a0001c0049t0001others(3): Show | a0001c0002t0001g0035 a0001c0003t0002g0092 a0001c0003t0002g0241 others(5): Show |
8 | 251 | 0.0319 | 6 | c.-9- others(21): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109140890 | C | CTTTTTT | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG02056.hp2 others(8): Show |
a0003a0005a0015others(1): Show | a0003c0001a0003c0005a0003c0081others(3): Show | a0003c0001t0001a0003c0001t0008a0003c0005t0002others(4): Show | a0003c0001t0001g0150 a0003c0001t0001g0151 a0003c0001t0001g0154 others(8): Show |
11 | 149 | 0.0738 | 6 | c.653 others(21): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109152640 | C | CTTTCTT | intron_variant | MODIFIER | HG00423.hp2 HG01106.hp2 HG01255.hp1 others(10): Show |
a0001a0002a0007others(1): Show | a0001c0002a0001c0003a0001c0055others(8): Show | a0001c0002t0001a0001c0003t0002a0001c0055t0001others(8): Show | a0001c0002t0001g0074 a0001c0002t0001g0235 a0001c0003t0002g0241 others(10): Show |
13 | 177 | 0.0734 | 6 | c.653 others(25): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109157272 | G | GTTATTA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(106): Show |
a0001a0002a0004others(14): Show | a0001c0002a0001c0003a0001c0010others(44): Show | a0001c0002t0001a0001c0002t0008a0001c0002t0021others(53): Show | a0001c0002t0001g0002 a0001c0002t0001g0035 a0001c0002t0001g0074 others(105): Show |
109 | 162 | 0.6728 | 6 | c.654 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109166649 | C | CAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp2 others(20): Show |
a0001a0002a0007others(4): Show | a0001c0002a0001c0003a0001c0011others(12): Show | a0001c0002t0001a0001c0003t0002a0001c0011t0001others(13): Show | a0001c0002t0001g0035 a0001c0002t0001g0126 a0001c0003t0002g0077 others(20): Show |
23 | 194 | 0.1186 | 6 | c.654 others(21): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109167621 | G | GTATATA | intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01109.hp2 others(18): Show |
a0001a0002a0004others(4): Show | a0001c0002a0001c0022a0001c0023others(11): Show | a0001c0002t0001a0001c0022t0004a0001c0023t0004others(13): Show | a0001c0002t0001g0282 a0001c0022t0004g0005 a0001c0022t0004g0006 others(18): Show |
21 | 112 | 0.1875 | 6 | c.787 others(21): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109194511 | C | CGTGTGT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00621.hp2 others(42): Show |
a0001a0002a0003others(5): Show | a0001c0011a0001c0012a0001c0029others(10): Show | a0001c0011t0001a0001c0012t0002a0001c0029t0011others(15): Show | a0001c0011t0001g0014 a0001c0012t0002g0250 a0001c0012t0002g0257 others(42): Show |
45 | 269 | 0.1673 | 6 | c.248 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 16/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109194512 | A | ATGTGTG | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 NA18970.hp1 |
a0004a0010 | a0004c0008a0004c0041a0010c0042 | a0004c0008t0008a0004c0041t0002a0010c0042t0003 | a0004c0008t0008g0216 a0004c0041t0002g0223 a0010c0042t0003g0221 |
3 | 174 | 0.0172 | 6 | c.248 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109209910 | C | CATACGT | intron_variant | MODIFIER | HG01069.hp1 HG01074.hp2 HG01106.hp2 others(1): Show |
a0009 | a0009c0025 | a0009c0025t0001 | a0009c0025t0001g0105 a0009c0025t0001g0267 a0009c0025t0001g0268 others(1): Show |
4 | 305 | 0.0131 | 6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109209945 | A | ATACATG | intron_variant | MODIFIER | HG00280.hp2 HG02723.hp2 HG03669.hp1 others(3): Show |
a0001a0002a0009others(1): Show | a0001c0010a0001c0011a0001c0013others(3): Show | a0001c0010t0001a0001c0011t0001a0001c0013t0001others(3): Show | a0001c0010t0001g0187 a0001c0011t0001g0014 a0001c0013t0001g0255 others(3): Show |
6 | 305 | 0.0197 | 6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109209952 | T | TACACAC | intron_variant | MODIFIER | HG00323.hp1 HG02523.hp1 NA19009.hp2 |
a0006 | a0006c0026 | a0006c0026t0002a0006c0026t0016 | a0006c0026t0002g0155 a0006c0026t0002g0156 a0006c0026t0016g0066 |
3 | 306 | 0.0098 | 6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109210021 | G | GTACATA | intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02615.hp1 others(12): Show |
a0001a0002a0006others(4): Show | a0001c0039a0001c0069a0001c0074others(10): Show | a0001c0039t0004a0001c0069t0002a0001c0074t0004others(11): Show | a0001c0039t0004g0116 a0001c0069t0002g0204 a0001c0074t0004g0229 others(12): Show |
15 | 301 | 0.0498 | 6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109210056 | C | CATACAT | intron_variant | MODIFIER | HG00280.hp2 HG02723.hp2 HG03669.hp1 others(2): Show |
a0001a0002a0038 | a0001c0010a0001c0011a0001c0013others(2): Show | a0001c0010t0001a0001c0011t0001a0001c0013t0001others(2): Show | a0001c0010t0001g0187 a0001c0011t0001g0014 a0001c0013t0001g0255 others(2): Show |
5 | 302 | 0.0166 | 6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109210056 | C | CATACGT | intron_variant | MODIFIER | HG02145.hp2 HG03098.hp2 HG03225.hp2 |
a0007a0028a0031 | a0007c0037a0028c0076a0031c0063 | a0007c0037t0004a0028c0076t0010a0031c0063t0010 | a0007c0037t0004g0201 a0028c0076t0010g0265 a0031c0063t0010g0117 |
3 | 300 | 0.0100 | 6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109210061 | G | GTATATA | intron_variant | MODIFIER | HG00323.hp1 HG02523.hp1 NA19009.hp2 |
a0006 | a0006c0026 | a0006c0026t0002a0006c0026t0016 | a0006c0026t0002g0155 a0006c0026t0002g0156 a0006c0026t0016g0066 |
3 | 306 | 0.0098 | 6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109210090 | C | CGTATAT | intron_variant | MODIFIER | HG00280.hp2 HG02723.hp2 HG03669.hp1 others(2): Show |
a0001a0002a0038 | a0001c0010a0001c0011a0001c0013others(2): Show | a0001c0010t0001a0001c0011t0001a0001c0013t0001others(2): Show | a0001c0010t0001g0187 a0001c0011t0001g0014 a0001c0013t0001g0255 others(2): Show |
5 | 304 | 0.0164 | 6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109210094 | C | CGTACAT | intron_variant | MODIFIER | HG00323.hp1 HG02523.hp1 NA19009.hp2 |
a0006 | a0006c0026 | a0006c0026t0002a0006c0026t0016 | a0006c0026t0002g0155 a0006c0026t0002g0156 a0006c0026t0016g0066 |
3 | 287 | 0.0105 | 6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109210099 | G | GTATATA | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG00597.hp2 others(56): Show |
a0001a0002a0003others(8): Show | a0001c0002a0001c0003a0001c0010others(19): Show | a0001c0002t0001a0001c0003t0002a0001c0010t0002others(22): Show | a0001c0002t0001g0035 a0001c0002t0001g0074 a0001c0002t0001g0079 others(56): Show |
59 | 306 | 0.1928 | 6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109210161 | G | GTGTGTA | intron_variant | MODIFIER | HG00323.hp1 HG02523.hp1 NA19009.hp2 |
a0006 | a0006c0026 | a0006c0026t0002a0006c0026t0016 | a0006c0026t0002g0155 a0006c0026t0002g0156 a0006c0026t0016g0066 |
3 | 295 | 0.0102 | 6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109210255 | A | ACATATC | intron_variant | MODIFIER | HG01074.hp1 HG02523.hp2 HG03490.hp2 others(2): Show |
a0001a0002a0039 | a0001c0003a0001c0050a0002c0024others(1): Show | a0001c0003t0002a0001c0050t0001a0002c0024t0003others(1): Show | a0001c0003t0002g0092 a0001c0003t0002g0112 a0001c0050t0001g0276 others(2): Show |
5 | 145 | 0.0345 | 6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109210269 | A | ATATATG | intron_variant | MODIFIER | HG01069.hp1 HG01074.hp2 HG01106.hp2 others(8): Show |
a0001a0007a0009others(3): Show | a0001c0016a0007c0037a0007c0057others(5): Show | a0001c0016t0011a0007c0037t0004a0007c0057t0004others(5): Show | a0001c0016t0011g0272 a0007c0037t0004g0201 a0007c0057t0004g0207 others(8): Show |
11 | 298 | 0.0369 | 6 | c.324 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | chr12 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109224532 | T | TTTATTA | intron_variant | MODIFIER | HG00323.hp1 HG01891.hp1 HG02145.hp2 others(22): Show |
a0001a0002a0006others(5): Show | a0001c0016a0001c0039a0001c0064others(17): Show | a0001c0016t0011a0001c0039t0004a0001c0064t0009others(19): Show | a0001c0016t0011g0272 a0001c0039t0004g0037 a0001c0064t0009g0184 others(22): Show |
25 | 265 | 0.0943 | 6 | c.388 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 27/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109262950 | T | TTATATA | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01109.hp2 others(7): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0004a0001c0062others(7): Show | a0001c0002t0001a0001c0004t0002a0001c0062t0019others(7): Show | a0001c0002t0001g0106 a0001c0004t0002g0055 a0001c0062t0019g0286 others(7): Show |
10 | 34 | 0.2941 | 6 | c.678 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 49/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAD10_chr12_111681053_111762099 | 111761291 | T | TTGTGTG | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02559.hp2 HG02976.hp1 |
a0001a0005 | a0001c0001a0005c0009 | a0001c0001t0001a0001c0001t0005a0005c0009t0006 | a0001c0001t0001g0013 a0001c0001t0005g0196 a0005c0009t0006g0198 |
3 | 289 | 0.0104 | 6 | c.*48 others(17): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 4193 | chr12 | TogoVar |