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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCG8_chr2_43833971_43887988 | 43884376 | A | AAAATAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG01081.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0002others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(8): Show | a0001c0001t0001g0108a0001c0001t0005g0125a0001c0001t0005g0127others(9): Show | 12 | 318 | 0.0377 | 8 | c.*64 others(19): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1389 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43887143 | C | CAAAAAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01069.hp1 others(11): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0008a0002c0003others(4): Show | a0001c0001t0076a0001c0008t0014a0001c0008t0058others(6): Show | a0001c0001t0076g0085a0001c0008t0014g0072a0001c0008t0058g0068others(9): Show | 14 | 318 | 0.0440 | 8 | c.*92 others(19): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 4156 | chr2 | TogoVar | ||||||
ABHD10_chr3_111974026_111998368 | 111977308 | T | TACACACA others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG01071.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0024a0001c0001t0002g0036 | 9 | 424 | 0.0212 | 8 | c.-17 others(19): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 1717 | chr3 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50870983 | G | GAAAGAGA others(1): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 NA18979.hp2 NA19002.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(2): Show | a0001c0001t0001g0324a0001c0001t0003g0210a0001c0001t0016g0057others(2): Show | 5 | 376 | 0.0133 | 8 | c.-11 others(19): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1069 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50871026 | A | AAAGGAAG others(1): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 HG02074.hp2 HG03831.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(2): Show | a0001c0001t0001g0079a0001c0001t0001g0309a0001c0001t0001g0324others(8): Show | 11 | 376 | 0.0293 | 8 | c.-11 others(19): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1026 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50886409 | C | CAGCCTGG others(1): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02717.hp1 HG02976.hp1 others(3): Show |
a0001a0004 | a0001c0013a0004c0009 | a0001c0013t0003a0004c0009t0001a0004c0009t0003others(2): Show | a0001c0013t0003g0035a0001c0013t0003g0036a0004c0009t0001g0289others(3): Show | 6 | 376 | 0.0160 | 8 | c.663 others(23): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50887211 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01257.hp2 HG01981.hp2 others(11): Show |
a0001a0002a0004 | a0001c0001a0001c0005a0001c0013others(3): Show | a0001c0001t0001a0001c0005t0004a0001c0013t0003others(5): Show | a0001c0001t0001g0174a0001c0001t0001g0206a0001c0005t0004g0261others(11): Show | 14 | 376 | 0.0372 | 8 | c.700 others(23): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12_chr20_25295214_25395835 | 25332462 | G | GACATCTA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(82): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0006others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(4): Show | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142others(82): Show | 85 | 316 | 0.2690 | 8 | c.316 others(25): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25359423 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02896.hp1 HG02897.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0009a0001c0004t0004 | a0001c0001t0004g0281a0001c0001t0009g0304a0001c0001t0009g0305others(4): Show | 7 | 316 | 0.0222 | 8 | c.192 others(27): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25360227 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01361.hp2 HG02257.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0007 | a0001c0002t0002g0144a0001c0002t0002g0151a0001c0002t0002g0154others(3): Show | 6 | 316 | 0.0190 | 8 | c.192 others(27): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25387589 | T | TAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01192.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0009a0001c0002t0002others(1): Show | a0001c0001t0004g0282a0001c0001t0004g0284a0001c0001t0004g0285others(11): Show | 14 | 316 | 0.0443 | 8 | c.191 others(25): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD13_chr13_108213392_108239243 | 108215427 | C | CCCCTACC others(1): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01934.hp2 HG02056.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0023a0001c0001t0001g0067a0001c0001t0003g0002 | 8 | 390 | 0.0205 | 8 | c.-32 others(19): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2964 | chr13 | TogoVar | ||||||
ABHD16A_chr6_31681955_31708324 | 31694387 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00621.hp2 HG00735.hp2 HG01168.hp1 others(29): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0002 | a0001c0001t0001g0035a0001c0001t0002g0006a0001c0001t0002g0039others(15): Show | 32 | 417 | 0.0767 | 8 | c.430 others(23): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 5/19 | chr6 | TogoVar | ||||||
ABHD17A_chr19_1871810_1890496 | 1886552 | G | GATAAATA others(1): Show |
upstream_gene_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02155.hp1 others(9): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0001a0001c0001t0002a0005c0004t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(6): Show | 12 | 416 | 0.0289 | 8 | c.-14 others(19): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 1057 | chr19 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80705333 | T | TTTTGTGT others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01099.hp2 HG01106.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0050others(8): Show | 13 | 360 | 0.0361 | 8 | c.590 others(25): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD17C_chr15_80690310_80760621 | 80713354 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 HG00738.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0319a0001c0001t0002g0027a0001c0001t0002g0028others(9): Show | 12 | 360 | 0.0333 | 8 | c.590 others(27): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD17C_chr15_80690310_80760621 | 80713900 | C | CCACACAC others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02615.hp1 HG02922.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0010a0001c0001t0013others(1): Show | a0001c0001t0001g0159a0001c0001t0001g0195a0001c0001t0001g0270others(3): Show | 6 | 360 | 0.0167 | 8 | c.590 others(27): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD17C_chr15_80690310_80760621 | 80723138 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00558.hp2 others(73): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(70): Show | 76 | 360 | 0.2111 | 8 | c.591 others(27): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128008340 | C | CGGCTCAC others(1): Show |
intron_variant | MODIFIER | NA18950.hp2 NA18969.hp1 NA19054.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0028a0001c0001t0037 | a0001c0001t0002g0222a0001c0001t0028g0224a0001c0001t0037g0214 | 3 | 344 | 0.0087 | 8 | c.279 others(23): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89127706 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02486.hp2 HG03098.hp2 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0003t0015 | a0001c0001t0001g0095a0001c0001t0001g0231a0001c0001t0004g0083others(1): Show | 4 | 234 | 0.0171 | 8 | c.194 others(27): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89127722 | C | CACACATA others(1): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02559.hp2 HG02572.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(4): Show | a0001c0001t0001g0068a0001c0001t0001g0108a0001c0001t0001g0183others(7): Show | 10 | 234 | 0.0427 | 8 | c.194 others(27): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89127722 | C | CACATATA others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01169.hp2 HG02602.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0046a0001c0001t0001g0060a0001c0001t0002g0107others(6): Show | 9 | 234 | 0.0385 | 8 | c.194 others(27): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89135140 | T | TTTCTTTT others(1): Show |
intron_variant | MODIFIER | HG01081.hp1 HG02004.hp2 HG02273.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115a0001c0001t0001g0185a0001c0001t0001g0186others(1): Show | 4 | 234 | 0.0171 | 8 | c.195 others(27): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89135143 | C | CTTTTCTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01070.hp1 HG01106.hp1 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0018a0001c0001t0001g0019others(29): Show | 32 | 234 | 0.1368 | 8 | c.195 others(27): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89146355 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02809.hp1 HG02896.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0011others(1): Show | a0001c0001t0004g0150a0001c0001t0006g0157a0001c0001t0006g0166others(3): Show | 6 | 234 | 0.0256 | 8 | c.195 others(25): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89149214 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG02809.hp1 HG03540.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0014a0001c0001t0043 | a0001c0001t0004g0150a0001c0001t0014g0014a0001c0001t0043g0137 | 3 | 234 | 0.0128 | 8 | c.195 others(25): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89171115 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02258.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0010a0001c0001t0040others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0098a0001c0001t0001g0103others(12): Show | 15 | 234 | 0.0641 | 8 | c.539 others(25): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89183195 | C | CTGTTTGT others(1): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02280.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0017a0001c0002t0023 | a0001c0002t0007g0111a0001c0002t0007g0153a0001c0002t0017g0005others(2): Show | 5 | 234 | 0.0214 | 8 | c.723 others(25): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89183384 | A | AAAAAATA others(1): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01070.hp2 HG01361.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(2): Show | a0001c0001t0001g0017a0001c0001t0002g0050a0001c0001t0009g0025others(3): Show | 6 | 234 | 0.0256 | 8 | c.723 others(25): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89205128 | T | TTCTCTCT others(1): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG01081.hp1 HG01952.hp1 others(11): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0046a0001c0001t0001g0069a0001c0001t0001g0091others(11): Show | 14 | 234 | 0.0598 | 8 | c.*97 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89205168 | C | CTCTCTCT others(1): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 NA18972.hp1 NA18989.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0028 | a0001c0001t0003g0124a0001c0001t0003g0135a0001c0001t0003g0215others(1): Show | 4 | 234 | 0.0171 | 8 | c.*97 others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2814 | chr15 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21653077 | A | AAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00673.hp2 HG02040.hp2 HG02280.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0002a0003c0006t0002 | a0001c0001t0001g0106a0001c0001t0002g0188a0001c0001t0002g0195others(3): Show | 6 | 304 | 0.0197 | 8 | c.105 others(27): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 8/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21680852 | A | ATGTGTAT others(1): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02280.hp2 HG03453.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0106a0001c0001t0002g0228a0001c0001t0002g0229others(1): Show | 4 | 304 | 0.0132 | 8 | c.555 others(25): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43715085 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01070.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(6): Show | a0001c0001t0003g0001a0001c0001t0003g0005a0001c0001t0003g0011others(19): Show | 43 | 286 | 0.1504 | 8 | c.773 others(21): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58256096 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG01099.hp2 HG02886.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0017a0001c0001t0003g0270a0001c0001t0005g0226others(1): Show | 4 | 302 | 0.0133 | 8 | c.-25 others(23): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD8_chr19_17287131_17308425 | 17289411 | A | AATAATAA others(1): Show |
downstream_gene_variant | MODIFIER | HG02027.hp2 HG02486.hp1 HG02717.hp1 others(5): Show |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0008a0001c0003t0003g0046a0001c0003t0003g0047others(5): Show | 8 | 386 | 0.0207 | 8 | c.*32 others(19): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2719 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17301776 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00741.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0008 | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(3): Show | a0001c0001t0001g0286a0001c0001t0001g0287a0001c0001t0004g0086others(10): Show | 13 | 386 | 0.0337 | 8 | c.-8- others(21): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26761617 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | NA18963.hp2 NA18993.hp2 NA19068.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0150a0001c0001t0002g0175a0001c0001t0002g0208others(3): Show | 6 | 358 | 0.0168 | 8 | c.821 others(25): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26761661 | T | TATACACA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01168.hp2 HG01169.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0029a0001c0001t0001g0032a0001c0001t0001g0039others(3): Show | 6 | 358 | 0.0168 | 8 | c.821 others(25): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26816986 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02630.hp2 NA18941.hp1 NA18967.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0074a0001c0001t0001g0357a0001c0001t0002g0188others(5): Show | 8 | 358 | 0.0224 | 8 | c.285 others(25): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26833769 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG01106.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0007 | a0001c0001t0004g0075a0001c0001t0004g0079a0001c0001t0004g0080others(17): Show | 20 | 358 | 0.0559 | 8 | c.118 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26834548 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG00642.hp2 HG02040.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0037a0001c0001t0001g0046a0001c0001t0001g0233others(1): Show | 4 | 358 | 0.0112 | 8 | c.118 others(27): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | ||||||
ABI2_chr2_203323394_203437169 | 203331348 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00621.hp2 HG00735.hp2 others(30): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0292a0001c0001t0001g0293a0001c0001t0001g0294others(30): Show | 33 | 320 | 0.1031 | 8 | c.117 others(25): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203342552 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00597.hp1 others(82): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0140a0001c0001t0001g0201a0001c0001t0001g0207others(82): Show | 85 | 320 | 0.2656 | 8 | c.117 others(27): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203358071 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02040.hp2 HG02155.hp1 HG02451.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0036a0001c0001t0002g0044a0001c0001t0002g0050others(9): Show | 12 | 320 | 0.0375 | 8 | c.118 others(25): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203370186 | T | TTCTCTCT others(1): Show |
intron_variant | MODIFIER | HG00621.hp1 HG02293.hp1 HG02622.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0021 | a0001c0001t0004g0141a0001c0001t0004g0146a0001c0001t0005g0081others(4): Show | 7 | 320 | 0.0219 | 8 | c.285 others(25): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203385139 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00733.hp2 HG01168.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0028 | a0001c0001t0001g0254a0001c0001t0006g0001a0001c0001t0006g0149others(17): Show | 20 | 320 | 0.0625 | 8 | c.480 others(25): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI2_chr2_203323394_203437169 | 203395432 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01175.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202a0001c0001t0001g0247a0001c0001t0001g0253others(2): Show | 5 | 320 | 0.0156 | 8 | c.726 others(23): Show |
ABI2 | ENSG00000138443.17 | transcript | ENST00000261018.12 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABI3BP_chr3_100744156_100998421 | 100749209 | T | TAAACAAA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG02027.hp2 HG02071.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0014a0001c0001t0018a0002c0002t0014others(1): Show | a0001c0001t0014g0188a0001c0001t0014g0215a0001c0001t0018g0047others(3): Show | 6 | 238 | 0.0252 | 8 | c.*12 others(19): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 68/68 | 1285 | chr3 | TogoVar | |||||
ABI3BP_chr3_100744156_100998421 | 100830106 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | NA18943.hp1 NA18998.hp2 |
a0001a0002 | a0001c0005a0002c0006 | a0001c0005t0004a0002c0006t0001 | a0001c0005t0004g0175a0002c0006t0001g0081 | 2 | 238 | 0.0084 | 8 | c.245 others(25): Show |
ABI3BP | ENSG00000154175.19 | transcript | ENST00000471714.6 | protein_coding | 32/67 | chr3 | TogoVar |