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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCD4_chr14_74280269_74307934 | 74284106 | C | CTTTTT | downstream_gene_variant | MODIFIER | HG02258.hp1 HG02486.hp2 HG02630.hp2 others(3): Show |
a0003a0007 | a0003c0003a0007c0007 | a0003c0003t0008a0003c0003t0011a0003c0003t0013others(3): Show | a0003c0003t0008g0125a0003c0003t0011g0156a0003c0003t0013g0136others(3): Show | 6 | 384 | 0.0156 | 5 | c.*23 others(16): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 1162 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74285110 | T | TAAGTA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(248): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0008others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0005a0001c0001t0001g0094a0001c0001t0001g0135others(129): Show | 251 | 384 | 0.6537 | 5 | c.*13 others(16): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 158 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74287566 | A | AAAAAG | intron_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01884.hp2 others(15): Show |
a0003a0004a0007 | a0003c0003a0004c0005a0007c0007 | a0003c0003t0005a0003c0003t0008a0003c0003t0011others(7): Show | a0003c0003t0005g0020a0003c0003t0005g0131a0003c0003t0008g0103others(10): Show | 18 | 384 | 0.0469 | 5 | c.163 others(22): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 17/18 | chr14 | TogoVar | ||||||
ABCF1_chr6_30566442_30596522 | 30576276 | C | CTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00673.hp1 others(39): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0001c0001t0005a0004c0006t0001 | a0001c0001t0001g0002a0001c0001t0001g0021a0001c0001t0001g0031others(20): Show | 42 | 415 | 0.1012 | 5 | c.74- others(20): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ABCF1_chr6_30566442_30596522 | 30593544 | T | TATATA | downstream_gene_variant | MODIFIER | NA18942.hp1 NA18984.hp2 NA18992.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0043a0001c0001t0001g0130 | 3 | 415 | 0.0072 | 5 | c.*28 others(16): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 2023 | chr6 | TogoVar | ||||||
ABCF3_chr3_184181199_184199005 | 184197845 | T | TGTGTG | downstream_gene_variant | MODIFIER | HG00544.hp2 HG01361.hp1 HG01361.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0016others(2): Show | 10 | 416 | 0.0240 | 5 | c.*41 others(16): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 3841 | chr3 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42241977 | C | CAAAAA | intron_variant | MODIFIER | HG01081.hp1 HG02280.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0004a0001c0001t0007a0001c0002t0002others(2): Show | a0001c0001t0004g0329a0001c0001t0007g0031a0001c0002t0002g0330others(4): Show | 7 | 354 | 0.0198 | 5 | c.286 others(24): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42266309 | T | TAAATA | intron_variant | MODIFIER | HG01099.hp2 HG01167.hp2 HG01169.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0083a0001c0001t0001g0097a0001c0001t0001g0112others(10): Show | 13 | 354 | 0.0367 | 5 | c.287 others(22): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42270259 | C | CAAAAA | intron_variant | MODIFIER | HG01106.hp2 HG01167.hp1 HG01167.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0247a0001c0001t0001g0248a0001c0001t0001g0317others(28): Show | 31 | 354 | 0.0876 | 5 | c.287 others(20): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42288766 | G | GAAGGA | intron_variant | MODIFIER | HG01123.hp1 HG01123.hp2 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0144a0001c0001t0010g0167a0001c0001t0010g0292 | 3 | 354 | 0.0085 | 5 | c.122 others(22): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG2_chr4_88085269_88163639 | 88125607 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG01123.hp2 HG01516.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053a0001c0001t0001g0077a0001c0001t0001g0092others(11): Show | 14 | 350 | 0.0400 | 5 | c.532 others(22): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 5/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88137012 | C | CAATAA | intron_variant | MODIFIER | HG01175.hp2 HG01361.hp1 HG01981.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(4): Show | a0001c0001t0001g0019a0001c0001t0001g0045a0001c0001t0001g0077others(20): Show | 23 | 350 | 0.0657 | 5 | c.203 others(22): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 2/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88145837 | C | CGCTGA | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp1 others(180): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(17): Show | a0001c0001t0001g0007a0001c0001t0001g0049a0001c0001t0001g0082others(177): Show | 183 | 350 | 0.5229 | 5 | c.-19 others(22): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 1/15 | chr4 | TogoVar | ||||||
ABHD10_chr3_111974026_111998368 | 111986428 | G | GTTTGT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00639.hp1 others(102): Show |
a0001a0005 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(34): Show | 105 | 424 | 0.2476 | 5 | c.438 others(18): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50871026 | A | AAAAGG | upstream_gene_variant | MODIFIER | NA19011.hp1 NA19011.hp2 NA19085.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0020a0002c0002t0002g0348 | 3 | 376 | 0.0080 | 5 | c.-11 others(16): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1026 | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50882973 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(266): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(17): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(249): Show | 269 | 376 | 0.7154 | 5 | c.486 others(22): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12_chr20_25295214_25395835 | 25297828 | A | AGTGGG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(143): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(142): Show | 146 | 316 | 0.4620 | 5 | c.*30 others(16): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2385 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25313578 | A | AAAAAT | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(68): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0027others(68): Show | 71 | 316 | 0.2247 | 5 | c.619 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 6/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25326110 | A | AAGGGG | intron_variant | MODIFIER | HG00544.hp1 HG01255.hp1 HG01496.hp1 others(33): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0171a0001c0003t0002g0226a0001c0003t0002g0227others(33): Show | 36 | 316 | 0.1139 | 5 | c.317 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25359423 | C | CAAAAA | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01346.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0004 | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0039others(3): Show | 6 | 316 | 0.0190 | 5 | c.192 others(24): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25360227 | C | CTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG01123.hp2 HG01175.hp2 others(24): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0003a0001c0003t0002 | a0001c0002t0002g0202a0001c0002t0003g0175a0001c0002t0003g0177others(24): Show | 27 | 316 | 0.0854 | 5 | c.192 others(24): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25369927 | T | TAAAAA | intron_variant | MODIFIER | HG01175.hp1 HG01361.hp2 HG02109.hp2 others(7): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002a0001c0003t0006others(1): Show | a0001c0002t0002g0144a0001c0002t0002g0145a0001c0003t0002g0299others(7): Show | 10 | 316 | 0.0317 | 5 | c.191 others(24): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25390476 | G | GCCCCC | intron_variant | MODIFIER | HG01975.hp1 HG02129.hp1 HG02145.hp2 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0010a0001c0005t0004 | a0001c0001t0001g0132a0001c0001t0001g0133a0001c0001t0001g0134others(8): Show | 11 | 316 | 0.0348 | 5 | c.191 others(18): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25393470 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00642.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0001t0004g0291a0001c0002t0002g0141a0001c0002t0002g0144others(33): Show | 36 | 316 | 0.1139 | 5 | c.-27 others(16): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2636 | chr20 | TogoVar | ||||||
ABHD13_chr13_108213392_108239243 | 108236682 | A | ATTTTT | downstream_gene_variant | MODIFIER | HG01106.hp1 HG01257.hp1 HG01257.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0003g0002a0001c0001t0004g0006a0001c0001t0006g0008others(3): Show | 8 | 390 | 0.0205 | 5 | c.*64 others(16): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2440 | chr13 | TogoVar | ||||||
ABHD15_chr17_29555547_29572037 | 29557060 | T | TAAACA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(322): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(96): Show | 325 | 418 | 0.7775 | 5 | c.*55 others(16): Show |
ABHD15 | ENSG00000168792.5 | transcript | ENST00000307201.5 | protein_coding | 3486 | chr17 | TogoVar | ||||||
ABHD16A_chr6_31681955_31708324 | 31685802 | T | TAAAAC | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp1 others(183): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0003t0002others(3): Show | a0001c0001t0002g0003a0001c0001t0002g0006a0001c0001t0002g0011others(83): Show | 186 | 417 | 0.4460 | 5 | c.*14 others(16): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 1152 | chr6 | TogoVar | ||||||
ABHD17A_chr19_1871810_1890496 | 1889309 | A | AAAAAT | upstream_gene_variant | MODIFIER | HG02896.hp1 HG03579.hp1 NA18522.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 3 | 416 | 0.0072 | 5 | c.-41 others(16): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 3814 | chr19 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80705333 | T | TTTGTG | intron_variant | MODIFIER | HG04115.hp2 NA19000.hp2 NA19011.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0077a0001c0001t0004g0005a0001c0001t0004g0068others(4): Show | 8 | 360 | 0.0222 | 5 | c.590 others(22): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD17C_chr15_80690310_80760621 | 80744142 | C | CTAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00733.hp2 others(68): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0122a0001c0001t0001g0123a0001c0001t0001g0124others(67): Show | 71 | 360 | 0.1972 | 5 | c.591 others(22): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89135138 | T | TTTTTC | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00438.hp2 others(141): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0006a0001c0001t0001g0015a0001c0001t0001g0017others(141): Show | 144 | 234 | 0.6154 | 5 | c.195 others(24): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89147350 | C | CTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG02258.hp1 HG02280.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0010a0001c0001t0040others(4): Show | a0001c0001t0001g0006a0001c0001t0001g0098a0001c0001t0001g0103others(11): Show | 14 | 234 | 0.0598 | 5 | c.195 others(22): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89170080 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG01106.hp1 others(33): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0029others(33): Show | 36 | 234 | 0.1539 | 5 | c.539 others(22): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89181228 | C | CAAAAA | intron_variant | MODIFIER | HG00741.hp1 HG01081.hp1 HG01106.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(5): Show | a0001c0001t0001g0006a0001c0001t0001g0017a0001c0001t0001g0018others(42): Show | 45 | 234 | 0.1923 | 5 | c.723 others(22): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89205128 | T | TCTCTC | downstream_gene_variant | MODIFIER | HG02896.hp2 NA19002.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0010 | a0001c0001t0002g0132a0001c0001t0010g0012 | 2 | 234 | 0.0086 | 5 | c.*97 others(16): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89206003 | A | AGGGGG | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01106.hp2 HG02486.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0024 | a0001c0001t0002g0053a0001c0001t0002g0107a0001c0001t0009g0163others(1): Show | 4 | 234 | 0.0171 | 5 | c.*10 others(18): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3649 | chr15 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21653077 | A | AAAAAG | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(100): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0004a0001c0001t0001g0019a0001c0001t0001g0037others(98): Show | 103 | 304 | 0.3388 | 5 | c.105 others(24): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 8/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21668200 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00639.hp1 others(124): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0036a0001c0001t0001g0037a0001c0001t0001g0041others(123): Show | 127 | 304 | 0.4178 | 5 | c.556 others(22): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 4/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21689549 | C | CAAAAA | intron_variant | MODIFIER | HG00621.hp1 HG01256.hp2 HG01934.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0037a0001c0001t0001g0117a0001c0001t0002g0142others(38): Show | 41 | 304 | 0.1349 | 5 | c.510 others(22): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 3/8 | chr18 | TogoVar | ||||||
ABHD3_chr18_21645901_21709774 | 21702554 | A | ATTTTG | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(195): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0004a0001c0001t0001g0036a0001c0001t0001g0037others(193): Show | 198 | 304 | 0.6513 | 5 | c.327 others(18): Show |
ABHD3 | ENSG00000158201.10 | transcript | ENST00000289119.7 | protein_coding | 2/8 | chr18 | TogoVar | ||||||
ABHD4_chr14_22593300_22617963 | 22600831 | G | GTGTGT | intron_variant | MODIFIER | NA18966.hp1 NA18966.hp2 NA18979.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0156 | 3 | 424 | 0.0071 | 5 | c.24- others(18): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1/6 | chr14 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58252229 | G | GTTTTT | intron_variant | MODIFIER | HG01109.hp2 HG01891.hp2 HG02486.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0017 | a0001c0001t0001g0013a0001c0001t0001g0154a0001c0001t0001g0227others(7): Show | 10 | 302 | 0.0331 | 5 | c.-26 others(22): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58271766 | G | GTTTTT | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00609.hp2 others(58): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(3): Show | a0001c0001t0001g0135a0001c0001t0002g0004a0001c0001t0002g0012others(57): Show | 61 | 302 | 0.2020 | 5 | c.523 others(20): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD8_chr19_17287131_17308425 | 17289411 | A | AATAAT | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG00733.hp1 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0001g0007a0001c0001t0001g0030a0001c0001t0001g0215others(21): Show | 26 | 386 | 0.0674 | 5 | c.*32 others(16): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2719 | chr19 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17299560 | C | CAAAAA | intron_variant | MODIFIER | HG00733.hp1 HG01099.hp1 HG01168.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0030a0001c0001t0001g0037a0001c0001t0001g0226others(7): Show | 12 | 386 | 0.0311 | 5 | c.761 others(22): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2/4 | chr19 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26747981 | C | CTGCTT | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(118): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0013others(118): Show | 121 | 358 | 0.3380 | 5 | c.*58 others(14): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 11/11 | 588 | chr10 | TogoVar | |||||
ABI1_chr10_26741596_26865958 | 26747981 | C | CTTCTT | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00438.hp2 others(117): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0003g0003a0001c0001t0003g0004a0001c0001t0003g0005others(117): Show | 120 | 358 | 0.3352 | 5 | c.*58 others(14): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 11/11 | 588 | chr10 | TogoVar | |||||
ABI1_chr10_26741596_26865958 | 26773215 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00642.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0007a0001c0001t0014 | a0001c0001t0004g0075a0001c0001t0004g0078a0001c0001t0004g0080others(21): Show | 24 | 358 | 0.0670 | 5 | c.463 others(22): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 3/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26818631 | C | CAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00642.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0085a0001c0001t0004g0086a0001c0001t0004g0087others(3): Show | 6 | 358 | 0.0168 | 5 | c.285 others(22): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 2/10 | chr10 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26851348 | A | ATTTTT | intron_variant | MODIFIER | HG00438.hp2 HG01081.hp2 HG04184.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0003a0001c0001t0004a0001c0001t0010others(1): Show | a0001c0001t0003g0297a0001c0001t0004g0077a0001c0001t0004g0078others(3): Show | 6 | 358 | 0.0168 | 5 | c.117 others(22): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar |