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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC9_chr12_21792389_21946426 | 21841342 | GTTTCCT | G | intron_variant | MODIFIER | HG01168.hp1 HG01261.hp1 HG01981.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0011 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0073 a0001c0001t0001g0089 a0001c0001t0001g0132 others(5): Show |
8 | 63 | 0.1270 | -6 | c.347 others(23): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 29/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21915472 | GTATATA | G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(41): Show |
a0001a0003 | a0001c0001a0001c0008a0003c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0032 a0001c0001t0001g0040 others(40): Show |
44 | 182 | 0.2418 | -6 | c.816 others(21): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | |||||||
ABCD2_chr12_39545033_39624803 | 39622554 | CCAGAGA | C | upstream_gene_variant | MODIFIER | HG00597.hp2 NA18974.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0261 a0001c0001t0001g0263 a0001c0001t0001g0265 |
3 | 338 | 0.0089 | -6 | c.-29 others(17): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 2752 | chr12 | TogoVar | |||||||
ABCD3_chr1_94413389_94523663 | 94421562 | ATGTGTG | A | intron_variant | MODIFIER | HG02647.hp1 HG02886.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018a0001c0001t0027 | a0001c0001t0003g0193 a0001c0001t0003g0194 a0001c0001t0018g0180 others(1): Show |
4 | 85 | 0.0471 | -6 | c.110 others(23): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94438295 | CACACAT | C | intron_variant | MODIFIER | HG01884.hp2 HG01943.hp2 HG01975.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0007 a0001c0002t0001g0097 a0001c0002t0002g0121 others(6): Show |
9 | 360 | 0.0250 | -6 | c.110 others(25): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94438301 | TACACAC | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0003g0008 a0001c0001t0003g0011 a0001c0001t0003g0170 others(52): Show |
60 | 164 | 0.3659 | -6 | c.110 others(25): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94456255 | ATTTTTT | A | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00642.hp2 others(62): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0017 others(60): Show |
65 | 83 | 0.7831 | -6 | c.111 others(23): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74305330 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(89): Show |
a0002a0009a0011 | a0002c0002a0002c0012a0009c0013others(1): Show | a0002c0002t0001a0002c0002t0024a0002c0012t0001others(2): Show | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0013 others(46): Show |
92 | 321 | 0.2866 | -6 | c.-24 others(17): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 2397 | chr14 | TogoVar | |||||||
ABCD4_chr14_74280269_74307934 | 74306145 | CATATAT | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG01070.hp2 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0020a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(3): Show | a0001c0001t0001g0035 a0001c0001t0002g0001 a0001c0001t0002g0011 others(17): Show |
25 | 264 | 0.0947 | -6 | c.-32 others(17): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3212 | chr14 | TogoVar | |||||||
ABCF1_chr6_30566442_30596522 | 30591547 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01891.hp2 others(18): Show |
a0001a0002 | a0001c0001a0002c0006a0002c0012 | a0001c0001t0003a0002c0006t0003a0002c0012t0003 | a0001c0001t0003g0017 a0001c0001t0003g0053 a0001c0001t0003g0229 others(14): Show |
21 | 139 | 0.1511 | -6 | c.*84 others(15): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 26 | chr6 | TogoVar | |||||||
ABCF3_chr3_184181199_184199005 | 184197845 | TTGTGTG | T | downstream_gene_variant | MODIFIER | HG01261.hp2 HG02109.hp2 HG02486.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0003c0004t0001g0009 |
7 | 46 | 0.1522 | -6 | c.*41 others(17): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 3841 | chr3 | TogoVar | |||||||
ABCG1_chr21_42214140_42302244 | 42219222 | CCCGCCG | C | 5_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00609.hp1 others(59): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(10): Show | a0001c0001t0005g0001 a0001c0001t0005g0011 a0001c0001t0005g0012 others(58): Show |
62 | 334 | 0.1856 | -6 | c.-14 others(12): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 1/15 | 9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42243445 | CGCGTGT | C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG01255.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0165 a0001c0001t0002g0162 a0001c0001t0002g0164 others(6): Show |
10 | 268 | 0.0373 | -6 | c.286 others(25): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42243447 | CGTGTGT | C | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0184 a0001c0001t0001g0185 a0001c0001t0002g0237 |
3 | 269 | 0.0112 | -6 | c.286 others(25): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42243485 | TGTGTGC | T | intron_variant | MODIFIER | NA18964.hp2 NA18968.hp1 NA18977.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0231 a0001c0001t0001g0260 a0001c0001t0002g0173 others(2): Show |
5 | 352 | 0.0142 | -6 | c.286 others(25): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43808964 | TACACAC | T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(28): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0028 a0001c0001t0001g0094 a0001c0001t0003g0011 others(26): Show |
31 | 176 | 0.1761 | -6 | c.*41 others(17): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 3507 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43833363 | ATATTAT | A | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01978.hp2 others(15): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(4): Show | a0001c0001t0001g0047 a0001c0001t0001g0118 a0001c0001t0001g0119 others(14): Show |
18 | 101 | 0.1782 | -6 | c.266 others(23): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43845096 | GTGTATA | G | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG02622.hp1 others(2): Show |
a0003 | a0003c0002a0003c0017 | a0003c0002t0021a0003c0017t0007 | a0003c0002t0021g0149 a0003c0002t0021g0150 a0003c0002t0021g0151 others(1): Show |
5 | 289 | 0.0173 | -6 | c.165 others(21): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43846990 | GCACACA | G | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01071.hp2 others(6): Show |
a0001a0003a0004 | a0001c0001a0003c0002a0003c0014others(1): Show | a0001c0001t0003a0001c0001t0010a0001c0001t0017others(5): Show | a0001c0001t0003g0121 a0001c0001t0010g0120 a0001c0001t0017g0052 others(6): Show |
9 | 199 | 0.0452 | -6 | c.322 others(21): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50903110 | GTTTTTT | G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(128): Show |
a0002a0005a0008others(1): Show | a0002c0002a0002c0004a0005c0008others(2): Show | a0002c0002t0002a0002c0002t0005a0002c0002t0006others(9): Show | a0002c0002t0002g0001 a0002c0002t0002g0003 a0002c0002t0002g0009 others(120): Show |
131 | 373 | 0.3512 | -6 | c.864 others(21): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25350959 | TCACACA | T | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG00735.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0009 | a0001c0001t0001g0014 a0001c0001t0001g0021 a0001c0001t0001g0029 others(19): Show |
22 | 52 | 0.4231 | -6 | c.192 others(25): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25359423 | CAAAAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG01255.hp1 HG01496.hp1 others(50): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0002t0010a0001c0003t0002others(2): Show | a0001c0001t0004g0291 a0001c0002t0010g0298 a0001c0003t0002g0002 others(48): Show |
53 | 190 | 0.2789 | -6 | c.192 others(25): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25390476 | GGCCCCC | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(109): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0006others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(5): Show | a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 others(107): Show |
112 | 151 | 0.7417 | -6 | c.191 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD17A_chr19_1871810_1890496 | 1874746 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG02280.hp2 HG03209.hp2 NA18964.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0002 a0001c0001t0001g0016 a0001c0001t0001g0030 others(1): Show |
6 | 65 | 0.0923 | -6 | c.*24 others(17): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 2063 | chr19 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71862698 | TCTTAAG | T | downstream_gene_variant | MODIFIER | HG02559.hp2 HG02897.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0094 a0001c0001t0001g0124 a0001c0002t0001g0095 |
3 | 184 | 0.0163 | -6 | c.*40 others(17): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 2453 | chr9 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80695065 | TGGCGGC | T | upstream_gene_variant | MODIFIER | HG01256.hp1 HG01361.hp2 HG01884.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 a0001c0001t0001g0191 a0001c0001t0001g0205 others(1): Show |
4 | 208 | 0.0192 | -6 | c.-36 others(15): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 244 | chr15 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80713900 | CCACACA | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00609.hp2 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 others(60): Show |
70 | 154 | 0.4545 | -6 | 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 | 80723136 | ATATGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00733.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0121 a0001c0001t0001g0122 a0001c0001t0001g0123 others(53): Show |
57 | 335 | 0.1701 | -6 | c.591 others(25): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127966702 | CAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00621.hp2 others(23): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0002a0001c0001t0088a0001c0001t0090others(10): Show | a0001c0001t0002g0204 a0001c0001t0002g0205 a0001c0001t0002g0206 others(23): Show |
26 | 75 | 0.3467 | -6 | c.-18 others(23): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128039144 | CATATAT | C | 3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01070.hp1 others(38): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0003 | a0001c0001t0004a0001c0001t0011a0001c0001t0022others(10): Show | a0001c0001t0004g0131 a0001c0001t0004g0132 a0001c0001t0004g0152 others(38): Show |
41 | 80 | 0.5125 | -6 | c.*33 others(17): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 3367 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD1_chr2_27118815_27135812 | 27127236 | CTTTTTT | C | intron_variant | MODIFIER | HG00738.hp1 HG02922.hp1 HG02970.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 a0002c0002t0001g0039 a0002c0002t0001g0121 |
6 | 234 | 0.0256 | -6 | c.115 others(23): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89115370 | ATGTGTG | A | intron_variant | MODIFIER | HG00544.hp1 HG01884.hp1 HG02055.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0094 a0001c0001t0003g0134 a0001c0001t0004g0084 others(4): Show |
7 | 102 | 0.0686 | -6 | c.-6- others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89127716 | TATACAC | T | intron_variant | MODIFIER | HG01106.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0020 |
2 | 232 | 0.0086 | -6 | c.194 others(25): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89146355 | CGTGTGT | C | intron_variant | MODIFIER | HG00438.hp2 HG01243.hp2 HG01517.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(8): Show | a0001c0001t0001g0007 a0001c0001t0001g0054 a0001c0001t0001g0085 others(28): Show |
31 | 65 | 0.4769 | -6 | c.195 others(23): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89149214 | AACACAC | A | intron_variant | MODIFIER | HG01256.hp2 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026 | a0001c0001t0002g0213 a0001c0001t0026g0073 |
2 | 85 | 0.0235 | -6 | c.195 others(23): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89205128 | TTCTCTC | T | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01361.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0183 a0001c0001t0002g0025 others(8): Show |
12 | 59 | 0.2034 | -6 | c.*97 others(17): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | |||||||
ABHD4_chr14_22593300_22617963 | 22600829 | GGGGTGT | G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(81): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0016 others(33): Show |
84 | 272 | 0.3088 | -6 | c.24- others(19): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD4_chr14_22593300_22617963 | 22615656 | CTTTAAG | C | downstream_gene_variant | MODIFIER | HG03579.hp1 NA18522.hp2 NA19030.hp2 |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0008 a0001c0002t0004g0043 a0001c0002t0004g0127 |
3 | 422 | 0.0071 | -6 | c.*47 others(17): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 2694 | chr14 | TogoVar | |||||||
ABHD5_chr3_43685938_43727725 | 43702875 | TTTATTA | T | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01070.hp2 others(74): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0003a0001c0001t0008a0001c0001t0011others(15): Show | a0001c0001t0003g0001 a0001c0001t0003g0005 a0001c0001t0003g0012 others(51): Show |
77 | 284 | 0.2711 | -6 | c.506 others(21): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43710047 | CAAATAA | C | intron_variant | MODIFIER | HG00621.hp1 HG02074.hp2 HG02080.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0013 | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0059 others(6): Show |
11 | 284 | 0.0387 | -6 | c.507 others(23): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58254851 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp1 HG01099.hp2 HG01106.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0017 a0001c0001t0001g0018 a0001c0001t0001g0020 others(32): Show |
37 | 82 | 0.4512 | -6 | c.-25 others(23): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58256104 | CACACAT | C | intron_variant | MODIFIER | HG02015.hp2 HG02074.hp2 NA18747.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 a0001c0001t0002g0136 a0001c0001t0002g0137 others(3): Show |
6 | 300 | 0.0200 | -6 | c.-25 others(21): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58264387 | GCACACA | G | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0234 a0001c0001t0001g0250 a0001c0001t0002g0016 others(17): Show |
20 | 73 | 0.2740 | -6 | c.120 others(23): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD6_chr3_58232792_58299734 | 58291392 | GGGGAGA | G | intron_variant | MODIFIER | HG02486.hp2 HG02886.hp1 HG03453.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0154 a0001c0001t0001g0182 others(2): Show |
5 | 300 | 0.0167 | -6 | c.838 others(23): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
ABHD8_chr19_17287131_17308425 | 17289411 | AAATAAT | A | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01256.hp2 HG01261.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0017 others(9): Show |
13 | 213 | 0.0610 | -6 | c.*32 others(17): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2719 | chr19 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26761617 | CATATAT | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02080.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0026 a0001c0001t0002g0153 a0001c0001t0002g0182 others(9): Show |
12 | 184 | 0.0652 | -6 | c.821 others(23): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26761657 | TATATAC | T | intron_variant | MODIFIER | HG02015.hp1 HG02273.hp2 HG04199.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0007 others(13): Show |
16 | 351 | 0.0456 | -6 | c.821 others(23): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26775071 | ATAAACT | A | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp2 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0017 a0001c0001t0008g0018 a0001c0001t0008g0019 |
3 | 356 | 0.0084 | -6 | c.462 others(23): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 3/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26834548 | AACACAC | A | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0120 a0001c0001t0001g0128 a0001c0001t0001g0131 others(10): Show |
13 | 74 | 0.1757 | -6 | c.118 others(25): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ABI1_chr10_26741596_26865958 | 26848220 | AAAGAAG | A | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 a0001c0001t0001g0105 a0001c0001t0001g0106 others(34): Show |
37 | 322 | 0.1149 | -6 | c.117 others(25): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 1/10 | chr10 | TogoVar |