regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACACA_chr17_37079992_37411836 | 37390175 | T | TATATACA others(5): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0163 | 1 | 299 | 0.0033 | 12 | c.38+ others(29): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37390175 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01109.hp1 HG01175.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(3): Show | a0001c0001t0001g0142a0001c0001t0007g0275a0001c0002t0001g0050others(6): Show | 9 | 299 | 0.0301 | 12 | c.38+ others(29): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACA_chr17_37079992_37411836 | 37390175 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG01884.hp2 HG03471.hp1 NA18994.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0007a0001c0002t0001a0001c0003t0001 | a0001c0001t0007g0140a0001c0002t0001g0133a0001c0003t0001g0061 | 3 | 299 | 0.0100 | 12 | c.38+ others(29): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109133836 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02486.hp1 HG02970.hp2 others(1): Show |
a0006a0008 | a0006c0031a0008c0015 | a0006c0031t0004a0008c0015t0005 | a0006c0031t0004g0206a0008c0015t0005g0057a0008c0015t0005g0171others(1): Show | 4 | 308 | 0.0130 | 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 | 109140347 | C | CTTCCTTC others(5): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0006 | a0006c0120 | a0006c0120t0003 | a0006c0120t0003g0043 | 1 | 308 | 0.0033 | 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 | 109157272 | G | GTTATTAT others(5): Show |
intron_variant | MODIFIER | HG00609.hp2 HG01433.hp1 HG02109.hp2 others(11): Show |
a0001a0003a0006others(4): Show | a0001c0016a0001c0062a0001c0069others(7): Show | a0001c0016t0009a0001c0062t0019a0001c0069t0002others(8): Show | a0001c0016t0009g0287a0001c0016t0009g0290a0001c0016t0009g0305others(11): Show | 14 | 308 | 0.0455 | 12 | c.654 others(29): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109157272 | G | GTTGTTAT others(5): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02280.hp1 others(9): Show |
a0002a0006a0008others(1): Show | a0002c0118a0006c0031a0006c0120others(4): Show | a0002c0118t0005a0006c0031t0004a0006c0031t0013others(5): Show | a0002c0118t0005g0231a0006c0031t0004g0002a0006c0031t0004g0206others(9): Show | 12 | 308 | 0.0390 | 12 | c.654 others(29): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109167621 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01261.hp2 HG03471.hp1 others(2): Show |
a0001a0003a0011others(1): Show | a0001c0045a0003c0001a0011c0027others(1): Show | a0001c0045t0002a0003c0001t0001a0011c0027t0004others(2): Show | a0001c0045t0002g0146a0003c0001t0001g0132a0011c0027t0004g0150others(2): Show | 5 | 308 | 0.0162 | 12 | c.787 others(27): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109167643 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0055 | a0001c0055t0001 | a0001c0055t0001g0226 | 1 | 308 | 0.0033 | 12 | c.787 others(27): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109188171 | C | CTCCTTCC others(5): Show |
intron_variant | MODIFIER | NA18988.hp2 NA19009.hp1 |
a0001a0002 | a0001c0012a0002c0021 | a0001c0012t0002a0002c0021t0003 | a0001c0012t0002g0259a0002c0021t0003g0253 | 2 | 308 | 0.0065 | 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 | 109194512 | A | ATGTGTGT others(5): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02145.hp2 HG02809.hp1 others(3): Show |
a0004a0006a0007others(1): Show | a0004c0008a0006c0031a0006c0120others(2): Show | a0004c0008t0008a0006c0031t0004a0006c0120t0003others(2): Show | a0004c0008t0008g0263a0006c0031t0004g0002a0006c0031t0004g0206others(3): Show | 6 | 308 | 0.0195 | 12 | c.248 others(29): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 16/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109206428 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01433.hp1 HG01891.hp1 others(22): Show |
a0001a0002a0006others(9): Show | a0001c0022a0001c0039a0001c0055others(19): Show | a0001c0022t0004a0001c0039t0004a0001c0055t0001others(21): Show | a0001c0022t0004g0007a0001c0039t0004g0039a0001c0039t0004g0116others(22): Show | 25 | 308 | 0.0812 | 12 | c.291 others(29): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 19/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109209936 | C | CACATATA others(5): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02615.hp1 others(14): Show |
a0001a0002a0006others(5): Show | a0001c0039a0001c0069a0001c0074others(11): Show | a0001c0039t0004a0001c0069t0002a0001c0074t0004others(12): Show | a0001c0039t0004g0039a0001c0039t0004g0116a0001c0069t0002g0204others(14): Show | 17 | 308 | 0.0552 | 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 | 109210030 | T | TACATATA others(5): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0039 | a0001c0039t0004 | a0001c0039t0004g0039 | 1 | 308 | 0.0033 | 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 | 109210038 | T | TATACACA others(5): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0030 | a0030c0071 | a0030c0071t0002 | a0030c0071t0002g0040 | 1 | 308 | 0.0033 | 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 | 109210066 | T | TATACACA others(5): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0039 | a0001c0039t0004 | a0001c0039t0004g0039 | 1 | 308 | 0.0033 | 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 | 109210107 | A | ATATGTGT others(5): Show |
intron_variant | MODIFIER | HG03195.hp1 HG03540.hp1 |
a0007a0039 | a0007c0057a0039c0080 | a0007c0057t0004a0039c0080t0010 | a0007c0057t0004g0207a0039c0080t0010g0071 | 2 | 308 | 0.0065 | 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 | 109210109 | G | GTGTATAT others(5): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0070 | a0002c0070t0005 | a0002c0070t0005g0199 | 1 | 308 | 0.0033 | 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 | 109222294 | C | CGAGTGAG others(5): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01074.hp2 HG01106.hp2 others(14): Show |
a0001a0002a0006others(4): Show | a0001c0003a0001c0016a0001c0069others(11): Show | a0001c0003t0004a0001c0016t0011a0001c0069t0002others(11): Show | a0001c0003t0004g0074a0001c0016t0011g0274a0001c0069t0002g0204others(14): Show | 17 | 308 | 0.0552 | 12 | c.356 others(29): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 24/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109262950 | T | TTATATAT others(5): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG01109.hp1 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0010a0001c0012others(12): Show | a0001c0002t0001a0001c0010t0002a0001c0012t0002others(13): Show | a0001c0002t0001g0282a0001c0010t0002g0021a0001c0012t0002g0259others(16): Show | 19 | 308 | 0.0617 | 12 | c.678 others(29): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 49/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACACB_chr12_109111587_109273226 | 109262950 | T | TTTTATAT others(5): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG01123.hp1 others(3): Show |
a0001a0003a0007others(1): Show | a0001c0012a0001c0018a0003c0005others(2): Show | a0001c0012t0002a0001c0018t0011a0003c0005t0002others(2): Show | a0001c0012t0002g0262a0001c0018t0011g0046a0001c0018t0011g0047others(3): Show | 6 | 308 | 0.0195 | 12 | c.678 others(29): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 49/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD10_chr12_111681053_111762099 | 111690780 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0318 | 1 | 336 | 0.0030 | 12 | c.-13 others(29): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD10_chr12_111681053_111762099 | 111706782 | A | ATATATTT others(5): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0325 | 1 | 336 | 0.0030 | 12 | c.531 others(27): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD10_chr12_111681053_111762099 | 111706782 | A | ATATTTTT others(5): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0324 | 1 | 336 | 0.0030 | 12 | c.531 others(27): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ACAD10_chr12_111681053_111762099 | 111722368 | A | ATTATTTA others(5): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG03453.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186a0001c0001t0001g0188a0001c0001t0001g0189others(2): Show | 5 | 336 | 0.0149 | 12 | c.106 others(29): Show |
ACAD10 | ENSG00000111271.15 | transcript | ENST00000313698.9 | protein_coding | 8/20 | chr12 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132568801 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02083.hp2 HG02165.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0014a0001c0001t0002g0135a0001c0001t0002g0283others(3): Show | 7 | 316 | 0.0222 | 12 | c.200 others(31): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 17/19 | chr3 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132588192 | G | GGTATGTA others(5): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01175.hp1 others(9): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0003 | a0001c0001t0001a0001c0008t0001a0003c0003t0001 | a0001c0001t0001g0130a0001c0001t0001g0131a0001c0001t0001g0133others(9): Show | 12 | 316 | 0.0380 | 12 | c.162 others(31): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 13/19 | chr3 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132641560 | T | TGAAGAAG others(5): Show |
intron_variant | MODIFIER | NA18906.hp1 NA19057.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0128a0001c0004t0001g0043 | 2 | 316 | 0.0063 | 12 | c.537 others(27): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132641560 | T | TGATGAAG others(5): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02976.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0247a0001c0001t0001g0248 | 2 | 316 | 0.0063 | 12 | c.537 others(27): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132641596 | A | AGAAGAAG others(5): Show |
intron_variant | MODIFIER | HG02965.hp1 NA19030.hp2 |
a0003a0006 | a0003c0003a0006c0014 | a0003c0003t0001a0006c0014t0001 | a0003c0003t0001g0275a0006c0014t0001g0274 | 2 | 316 | 0.0063 | 12 | c.537 others(27): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132641638 | A | AGAGGAAG others(5): Show |
intron_variant | MODIFIER | HG03540.hp1 NA18906.hp1 NA19007.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040a0001c0001t0001g0041a0001c0001t0001g0092others(1): Show | 4 | 316 | 0.0127 | 12 | c.537 others(27): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | ||||||
ACAD11_chr3_132553141_132664809 | 132641698 | G | GGAAGAAG others(5): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02257.hp1 HG02257.hp2 others(9): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0011a0003c0003t0001g0017a0003c0003t0001g0020others(8): Show | 12 | 316 | 0.0380 | 12 | c.537 others(27): Show |
ACAD11 | ENSG00000240303.8 | transcript | ENST00000264990.11 | protein_coding | 4/19 | chr3 | TogoVar | ||||||
ACAD9_chr3_128874620_128918114 | 128899523 | G | GGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0125 | 1 | 372 | 0.0027 | 12 | c.808 others(26): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACAD9_chr3_128874620_128918114 | 128901172 | T | TTGGATGG others(5): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG02622.hp2 others(5): Show |
a0001a0008 | a0001c0003a0001c0014a0008c0013 | a0001c0003t0005a0001c0014t0005a0008c0013t0004 | a0001c0003t0005g0037a0001c0003t0005g0188a0001c0003t0005g0189others(4): Show | 8 | 372 | 0.0215 | 12 | c.809 others(25): Show |
ACAD9 | ENSG00000177646.20 | transcript | ENST00000308982.12 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACADL_chr2_210182923_210230447 | 210186900 | T | TTGTGGAA others(5): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(256): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(229): Show | 259 | 274 | 0.9453 | 12 | c.*20 others(23): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 1022 | chr2 | TogoVar | ||||||
ACADL_chr2_210182923_210230447 | 210214467 | A | AAAAGAAA others(5): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00609.hp1 HG01261.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0001a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0015others(16): Show | 24 | 274 | 0.0876 | 12 | c.536 others(29): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 4/10 | chr2 | TogoVar | ||||||
ACADL_chr2_210182923_210230447 | 210214509 | A | AAGAAAGA others(5): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0094 | 1 | 274 | 0.0037 | 12 | c.536 others(29): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 4/10 | chr2 | TogoVar | ||||||
ACADL_chr2_210182923_210230447 | 210214509 | A | AAGAAAGA others(5): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0244 | 1 | 274 | 0.0037 | 12 | c.536 others(29): Show |
ACADL | ENSG00000115361.8 | transcript | ENST00000233710.4 | protein_coding | 4/10 | chr2 | TogoVar | ||||||
ACADM_chr1_75719709_75768679 | 75736173 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02145.hp1 HG02818.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0271a0001c0001t0001g0272a0001c0001t0001g0274others(5): Show | 8 | 364 | 0.0220 | 12 | c.468 others(29): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75737279 | A | AATATATA others(5): Show |
intron_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0199 | 1 | 364 | 0.0028 | 12 | c.468 others(29): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75737288 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0291 | 1 | 364 | 0.0028 | 12 | c.468 others(29): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75753795 | C | CTTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01074.hp2 HG01106.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003 | a0001c0001t0001g0250a0001c0001t0001g0274a0001c0002t0001g0301others(21): Show | 24 | 364 | 0.0659 | 12 | c.945 others(29): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADM_chr1_75719709_75768679 | 75760544 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0235 | 1 | 364 | 0.0028 | 12 | c.946 others(27): Show |
ACADM | ENSG00000117054.15 | transcript | ENST00000370841.9 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ACADSB_chr10_123004006_123063290 | 123045171 | A | ATATATTT others(5): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0180 | 1 | 374 | 0.0027 | 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 | 88801586 | C | CTTTTTTT others(5): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(136): Show |
a0001a0002a0003others(68): Show | a0001c0002a0001c0015a0001c0025others(84): Show | a0001c0002t0001a0001c0015t0001a0001c0025t0001others(85): Show | a0001c0002t0001g0022a0001c0002t0001g0055a0001c0002t0001g0063others(133): Show | 139 | 368 | 0.3777 | 12 | c.-22 others(23): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 1849 | chr15 | TogoVar | ||||||
ACAN_chr15_88798436_88880353 | 88807747 | A | AGTGTGTG others(5): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02451.hp2 NA19067.hp1 |
a0070a0091a0118 | a0070c0167a0091c0164a0118c0177 | a0070c0167t0001a0091c0164t0001a0118c0177t0001 | a0070c0167t0001g0138a0091c0164t0001g0029a0118c0177t0001g0154 | 3 | 368 | 0.0082 | 12 | c.-8+ others(27): Show |
ACAN | ENSG00000157766.19 | transcript | ENST00000560601.4 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ACAP2_chr3_195269745_195448020 | 195290849 | T | TAAATAAT others(5): Show |
intron_variant | MODIFIER | HG02015.hp1 HG02040.hp1 NA18612.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0005 | a0001c0001t0002g0150a0001c0001t0002g0165a0001c0001t0002g0166others(2): Show | 5 | 324 | 0.0154 | 12 | c.206 others(29): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 20/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195294608 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0032 | 1 | 324 | 0.0031 | 12 | c.176 others(29): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 18/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195294608 | A | AAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01975.hp2 HG02523.hp2 HG02735.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0025 | a0001c0002t0004g0033a0001c0002t0004g0041a0001c0002t0004g0205others(1): Show | 4 | 324 | 0.0124 | 12 | c.176 others(29): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 18/22 | chr3 | TogoVar | ||||||
ACAP2_chr3_195269745_195448020 | 195294608 | A | AAAAAATA others(5): Show |
intron_variant | MODIFIER | HG01928.hp2 HG01978.hp1 HG01981.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0015 | a0001c0002t0004g0028a0001c0002t0004g0036a0001c0002t0004g0053others(1): Show | 4 | 324 | 0.0124 | 12 | c.176 others(29): Show |
ACAP2 | ENSG00000114331.16 | transcript | ENST00000326793.11 | protein_coding | 18/22 | chr3 | TogoVar |