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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACACA_chr17_37079992_37411836 | 37331094 | CATTTATT others(5): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp2 HG02451.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004a0001c0006 | a0001c0001t0001a0001c0001t0011a0001c0004t0005others(1): Show | a0001c0001t0001g0096 a0001c0001t0011g0048 a0001c0001t0011g0095 others(4): Show |
7 | 188 | 0.0372 | -12 | c.86- others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 2/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37342406 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18945.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 161 | 0.0062 | -12 | c.39- others(27): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37377659 | CAATAAAT others(5): Show |
C | intron_variant | MODIFIER | HG02451.hp1 HG02886.hp1 HG02970.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0002g0028 others(3): Show |
6 | 120 | 0.0500 | -12 | c.38+ others(29): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37377694 | TAAATAAA others(5): Show |
T | intron_variant | MODIFIER | HG00438.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0198 | 1 | 298 | 0.0034 | -12 | c.38+ others(29): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390140 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01891.hp1 HG01981.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0017a0001c0001t0034others(3): Show | a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0082 others(5): Show |
8 | 143 | 0.0559 | -12 | c.38+ others(29): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390203 | ATAATTAT others(5): Show |
A | intron_variant | MODIFIER | NA19076.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0258 | 1 | 298 | 0.0034 | -12 | c.38+ others(29): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390304 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG01358.hp2 HG03516.hp2 |
a0001 | a0001c0002a0001c0004 | a0001c0002t0033a0001c0004t0032 | a0001c0002t0033g0297 a0001c0004t0032g0298 |
2 | 195 | 0.0103 | -12 | c.38+ others(29): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109133861 | ATATTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG01167.hp2 others(9): Show |
a0001a0002a0003others(2): Show | a0001c0010a0001c0013a0001c0039others(5): Show | a0001c0010t0001a0001c0010t0009a0001c0013t0001others(6): Show | a0001c0010t0001g0187 a0001c0010t0009g0188 a0001c0013t0001g0136 others(9): Show |
12 | 304 | 0.0395 | -12 | c.-9- others(27): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109133863 | ATTTTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(102): Show |
a0001a0002a0003others(15): Show | a0001c0010a0001c0012a0001c0013others(37): Show | a0001c0010t0002a0001c0012t0002a0001c0013t0001others(44): Show | a0001c0010t0002g0259 a0001c0012t0002g0045 a0001c0012t0002g0248 others(102): Show |
105 | 259 | 0.4054 | -12 | c.-9- others(27): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 1/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109140259 | CTTCCTTC others(5): Show |
C | intron_variant | MODIFIER | HG00597.hp2 HG02622.hp2 HG02809.hp2 others(8): Show |
a0001a0002a0007others(3): Show | a0001c0002a0001c0003a0001c0029others(7): Show | a0001c0002t0001a0001c0003t0002a0001c0029t0011others(7): Show | a0001c0002t0001g0114 a0001c0002t0001g0191 a0001c0003t0002g0109 others(8): Show |
11 | 304 | 0.0362 | -12 | c.653 others(27): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109140271 | TTTCCTTC others(5): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00558.hp1 others(39): Show |
a0001a0002a0003others(13): Show | a0001c0011a0001c0022a0001c0034others(28): Show | a0001c0011t0001a0001c0011t0008a0001c0022t0004others(30): Show | a0001c0011t0001g0014 a0001c0011t0001g0157 a0001c0011t0008g0019 others(39): Show |
42 | 177 | 0.2373 | -12 | c.653 others(27): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109144750 | CTTTCTTT others(5): Show |
C | intron_variant | MODIFIER | HG03195.hp1 HG06807.hp2 |
a0007a0029 | a0007c0037a0029c0080 | a0007c0037t0004a0029c0080t0010 | a0007c0037t0004g0073 a0029c0080t0010g0071 |
2 | 75 | 0.0267 | -12 | c.653 others(29): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109187431 | TTTTATTT others(5): Show |
T | intron_variant | MODIFIER | HG03486.hp2 NA18906.hp1 |
a0001a0007 | a0001c0069a0007c0104 | a0001c0069t0002a0007c0104t0004 | a0001c0069t0002g0204 a0007c0104t0004g0183 |
2 | 244 | 0.0082 | -12 | c.198 others(29): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109188171 | CTCCTTCC others(5): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG01175.hp1 others(27): Show |
a0001a0002a0006others(5): Show | a0001c0002a0001c0003a0001c0016others(22): Show | a0001c0002t0001a0001c0003t0002a0001c0003t0004others(24): Show | a0001c0002t0001g0085 a0001c0003t0002g0077 a0001c0003t0002g0109 others(27): Show |
30 | 93 | 0.3226 | -12 | c.214 others(27): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 13/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109188411 | TTCCTTCC others(5): Show |
T | intron_variant | MODIFIER | HG02071.hp1 NA20129.hp1 |
a0004a0009 | a0004c0008a0009c0096 | a0004c0008t0001a0009c0096t0009 | a0004c0008t0001g0227 a0009c0096t0009g0294 |
2 | 306 | 0.0065 | -12 | c.214 others(29): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 13/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109210124 | CATGTATG others(5): Show |
C | intron_variant | MODIFIER | HG00323.hp1 HG02523.hp1 NA19009.hp2 |
a0006 | a0006c0026 | a0006c0026t0002a0006c0026t0016 | a0006c0026t0002g0155 a0006c0026t0002g0156 a0006c0026t0016g0066 |
3 | 281 | 0.0107 | -12 | c.324 others(29): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 21/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109262950 | TTATATAT others(5): Show |
T | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02257.hp1 others(14): Show |
a0001a0006a0009others(2): Show | a0001c0003a0001c0004a0001c0032others(9): Show | a0001c0003t0004a0001c0004t0017a0001c0032t0004others(10): Show | a0001c0003t0004g0075 a0001c0003t0004g0298 a0001c0004t0017g0004 others(14): Show |
17 | 41 | 0.4146 | -12 | c.678 others(29): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 49/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132568801 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02257.hp1 others(17): Show |
a0003a0010 | a0003c0003a0010c0014 | a0003c0003t0001a0010c0014t0001 | a0003c0003t0001g0013 a0003c0003t0001g0019 a0003c0003t0001g0020 others(16): Show |
20 | 132 | 0.1515 | -12 | c.200 others(31): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 17/19 | chr3 | TogoVar | |||||||
ACAD11_chr3_132553141_132664809 | 132641560 | TGAAGAAG others(5): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp1 HG02258.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 a0001c0001t0001g0159 a0001c0001t0001g0160 others(14): Show |
18 | 138 | 0.1304 | -12 | c.537 others(27): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | |||||||
ACAD11_chr3_132553141_132664809 | 132641692 | GGAAGAGG others(5): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG02723.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0275 a0001c0001t0001g0276 others(1): Show |
5 | 298 | 0.0168 | -12 | c.537 others(27): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | |||||||
ACAD9_chr3_128874620_128918114 | 128875965 | CAAGGGAA others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01346.hp1 HG02145.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0165 a0001c0001t0001g0178 others(1): Show |
7 | 370 | 0.0189 | -12 | c.-37 others(23): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 3654 | chr3 | TogoVar | |||||||
ACAD9_chr3_128874620_128918114 | 128899523 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG00639.hp1 HG01256.hp2 HG01258.hp1 others(4): Show |
a0001 | a0001c0003a0001c0015 | a0001c0003t0006a0001c0015t0002 | a0001c0003t0006g0045 a0001c0003t0006g0046 a0001c0003t0006g0254 others(2): Show |
7 | 144 | 0.0486 | -12 | c.808 others(26): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75760544 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02965.hp1 HG02970.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0137 a0001c0001t0007g0136 a0001c0001t0007g0138 |
3 | 24 | 0.1250 | -12 | c.946 others(27): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75766324 | GGATTAAA others(5): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0340 | 1 | 362 | 0.0028 | -12 | c.*35 others(23): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 2646 | chr1 | TogoVar | |||||||
ACADSB_chr10_123004006_123063290 | 123045131 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp2 HG01243.hp2 others(16): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0009a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(5): Show | a0001c0001t0001g0223 a0001c0001t0005g0010 a0001c0001t0005g0100 others(12): Show |
19 | 269 | 0.0706 | -12 | c.900 others(27): Show |
ACADSB | ENSG00000196177.13 | transcript | ENST00000358776.7 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88853753 | GATACATA others(5): Show |
G | intron_variant | MODIFIER | HG01346.hp2 HG02965.hp2 HG03579.hp2 |
a0023 | a0023c0022 | a0023c0022t0001a0023c0022t0002 | a0023c0022t0001g0157 a0023c0022t0001g0190 a0023c0022t0002g0343 |
3 | 133 | 0.0226 | -12 | c.226 others(31): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 11/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195304163 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA19078.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0025 | 1 | 28 | 0.0357 | -12 | c.111 others(31): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 13/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195311092 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 321 | 0.0031 | -12 | c.858 others(29): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 10/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195351441 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01175.hp1 HG01884.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0151 a0001c0001t0001g0175 a0001c0001t0001g0176 others(34): Show |
37 | 47 | 0.7872 | -12 | c.286 others(29): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 4/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195390851 | AAACATGT others(5): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02717.hp1 NA18522.hp1 |
a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0103 a0001c0004t0002g0104 a0001c0004t0002g0105 |
3 | 322 | 0.0093 | -12 | c.111 others(29): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 2/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195398637 | CTAAATAA others(5): Show |
C | intron_variant | MODIFIER | HG02273.hp2 HG02523.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0248 a0001c0001t0003g0129 |
2 | 112 | 0.0179 | -12 | c.54- others(27): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ACAP2_chr3_195269745_195448020 | 195409879 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0003 | a0001c0003t0026 | a0001c0003t0026g0207 | 1 | 11 | 0.0909 | -12 | c.54- others(29): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 1/22 | chr3 | TogoVar | |||||||
ACAT1_chr11_108116567_108152603 | 108151631 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00639.hp1 HG00733.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0103 others(12): Show |
17 | 86 | 0.1977 | -12 | c.*42 others(23): Show |
ACAT1 | ENSG00000075239.14 | transcript | ENST00000265838.9 | protein_coding | 4029 | chr11 | TogoVar | |||||||
ACAT2_chr6_159757045_159784112 | 159778422 | TTTAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02809.hp1 HG02886.hp2 others(5): Show |
a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0009 a0001c0005t0001g0058 a0001c0005t0001g0081 |
8 | 149 | 0.0537 | -12 | c.102 others(29): Show |
ACAT2 | ENSG00000120437.9 | transcript | ENST00000367048.5 | protein_coding | 8/8 | chr6 | TogoVar | |||||||
ACBD5_chr10_27190214_27245797 | 27193114 | CGTGTGTG others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00597.hp2 HG01243.hp2 HG01884.hp1 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0083 a0001c0001t0002g0087 a0001c0001t0002g0106 others(25): Show |
28 | 46 | 0.6087 | -12 | c.*43 others(23): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 2099 | chr10 | TogoVar | |||||||
ACBD5_chr10_27190214_27245797 | 27226449 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | NA18962.hp2 NA18965.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 a0001c0002t0001g0252 |
2 | 161 | 0.0124 | -12 | c.376 others(29): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 4/12 | chr10 | TogoVar | |||||||
ACBD5_chr10_27190214_27245797 | 27228809 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0202 | 1 | 345 | 0.0029 | -12 | c.375 others(29): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 4/12 | chr10 | TogoVar | |||||||
ACBD5_chr10_27190214_27245797 | 27228811 | ATATATTT others(5): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG03139.hp1 HG03195.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0003a0001c0005t0002 | a0001c0001t0003g0150 a0001c0005t0002g0122 a0001c0005t0002g0189 others(1): Show |
4 | 326 | 0.0123 | -12 | c.375 others(29): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 4/12 | chr10 | TogoVar | |||||||
ACBD5_chr10_27190214_27245797 | 27228813 | ATATTTTT others(5): Show |
A | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 NA18991.hp1 others(1): Show |
a0003 | a0003c0006 | a0003c0006t0004 | a0003c0006t0004g0126 a0003c0006t0004g0136 a0003c0006t0004g0137 others(1): Show |
4 | 359 | 0.0111 | -12 | c.375 others(29): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 4/12 | chr10 | TogoVar | |||||||
ACBD5_chr10_27190214_27245797 | 27233257 | TCTTTACT others(5): Show |
T | intron_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0030 | 1 | 382 | 0.0026 | -12 | c.303 others(29): Show |
ACBD5 | ENSG00000107897.20 | transcript | ENST00000396271.8 | protein_coding | 3/12 | chr10 | TogoVar | |||||||
ACBD6_chr1_180283230_180507577 | 180363686 | AAGCAGGA others(5): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp1 HG01123.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 others(20): Show |
23 | 332 | 0.0693 | -12 | c.663 others(31): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
ACBD6_chr1_180283230_180507577 | 180390542 | AGTCATTG others(5): Show |
A | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0196 | 1 | 332 | 0.0030 | -12 | c.663 others(29): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 6/7 | chr1 | TogoVar | |||||||
ACBD6_chr1_180283230_180507577 | 180419856 | AGAGGTGG others(5): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0277 a0001c0001t0003g0278 |
2 | 332 | 0.0060 | -12 | c.468 others(29): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 4/7 | chr1 | TogoVar | |||||||
ACBD6_chr1_180283230_180507577 | 180433574 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG01074.hp1 HG01106.hp1 HG01261.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0009 a0001c0001t0001g0021 a0001c0001t0001g0025 others(30): Show |
33 | 34 | 0.9706 | -12 | c.385 others(29): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 3/7 | chr1 | TogoVar | |||||||
ACBD6_chr1_180283230_180507577 | 180493247 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01081.hp2 HG01109.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 a0001c0001t0001g0144 a0001c0001t0001g0145 others(20): Show |
23 | 100 | 0.2300 | -12 | c.288 others(27): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
ACBD6_chr1_180283230_180507577 | 180493267 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 331 | 0.0030 | -12 | c.288 others(27): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 2/7 | chr1 | TogoVar | |||||||
ACBD6_chr1_180283230_180507577 | 180502501 | CTCCGGCT others(5): Show |
C | 5_prime_UTR_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0002 | 1 | 332 | 0.0030 | -12 | c.-24 others(21): Show |
ACBD6 | ENSG00000230124.8 | transcript | ENST00000367595.4 | protein_coding | 1/8 | 236 | chr1 | TogoVar | ||||||
ACBD7_chr10_15070475_15093776 | 15093036 | CTTTTTTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG02572.hp1 HG02818.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0051 | 2 | 204 | 0.0098 | -12 | c.-43 others(23): Show |
ACBD7 | ENSG00000176244.7 | transcript | ENST00000356189.6 | protein_coding | 4261 | chr10 | TogoVar | |||||||
ACCSL_chr11_44042981_44064977 | 44049419 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 | 1 | 195 | 0.0051 | -12 | c.505 others(27): Show |
ACCSL | ENSG00000205126.2 | transcript | ENST00000378832.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ACCSL_chr11_44042981_44064977 | 44064564 | ATGTGTGT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00639.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 a0001c0001t0001g0113 |
2 | 130 | 0.0154 | -12 | c.*46 others(23): Show |
ACCSL | ENSG00000205126.2 | transcript | ENST00000378832.1 | protein_coding | 4588 | chr11 | TogoVar |