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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC8_chr11_17387885_17481845 | 17434984 | C | CGCGTGT | intron_variant | MODIFIER | HG01496.hp1 HG02135.hp2 HG02738.hp1 others(6): Show |
a0001a0002a0004 | a0001c0003a0001c0006a0001c0028others(2): Show | a0001c0003t0001a0001c0006t0001a0001c0028t0001others(2): Show | a0001c0003t0001g0030 a0001c0003t0001g0119 a0001c0006t0001g0044 others(6): Show |
9 | 88 | 0.1023 | 6 | c.163 others(25): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 10/38 | chr11 | TogoVar | |||||||
ABCC8_chr11_17387885_17481845 | 17434984 | C | CGTGTGT | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG01123.hp1 others(15): Show |
a0001a0002 | a0001c0008a0001c0014a0001c0020others(3): Show | a0001c0008t0001a0001c0014t0002a0001c0020t0001others(3): Show | a0001c0008t0001g0039 a0001c0008t0001g0040 a0001c0008t0001g0047 others(14): Show |
18 | 97 | 0.1856 | 6 | c.163 others(25): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 10/38 | chr11 | TogoVar | |||||||
ABCC8_chr11_17387885_17481845 | 17450260 | C | CTTTCTT | intron_variant | MODIFIER | HG02257.hp1 HG02293.hp1 HG02896.hp2 |
a0001 | a0001c0015a0001c0019a0001c0020 | a0001c0015t0001a0001c0019t0001a0001c0020t0001 | a0001c0015t0001g0021 a0001c0019t0001g0321 a0001c0020t0001g0043 |
3 | 242 | 0.0124 | 6 | c.117 others(25): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 7/38 | chr11 | TogoVar | |||||||
ABCC8_chr11_17387885_17481845 | 17450685 | C | CTTTTTT | intron_variant | MODIFIER | HG01496.hp1 HG02559.hp1 HG03225.hp2 others(7): Show |
a0001 | a0001c0003a0001c0004a0001c0006others(5): Show | a0001c0003t0001a0001c0004t0002a0001c0006t0001others(5): Show | a0001c0003t0001g0164 a0001c0004t0002g0012 a0001c0006t0001g0044 others(7): Show |
10 | 191 | 0.0524 | 6 | c.117 others(25): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 7/38 | chr11 | TogoVar | |||||||
ABCC8_chr11_17387885_17481845 | 17467042 | C | CCACACA | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00558.hp2 others(55): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0004a0001c0006others(24): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(26): Show | a0001c0001t0001g0068 a0001c0001t0001g0182 a0001c0001t0001g0273 others(55): Show |
58 | 78 | 0.7436 | 6 | c.412 others(23): Show |
ABCC8 | ENSG00000006071.16 | transcript | ENST00000389817.8 | protein_coding | 3/38 | chr11 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21818458 | A | ATATATC | intron_variant | MODIFIER | HG02109.hp2 HG02896.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0010 | a0001c0001t0005g0068 a0001c0001t0005g0175 a0001c0001t0010g0069 others(1): Show |
4 | 169 | 0.0237 | 6 | c.367 others(23): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 31/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21818526 | A | ATGTGTG | intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02622.hp2 others(7): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0012 | a0001c0001t0002a0001c0001t0004a0001c0001t0013others(2): Show | a0001c0001t0002g0033 a0001c0001t0002g0126 a0001c0001t0002g0202 others(7): Show |
10 | 109 | 0.0917 | 6 | c.367 others(23): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 31/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21827527 | A | AACACAC | intron_variant | MODIFIER | HG00621.hp2 HG01175.hp1 HG01891.hp1 others(11): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0005a0001c0010t0001 | a0001c0001t0001g0013 a0001c0001t0001g0030 a0001c0001t0001g0045 others(11): Show |
14 | 49 | 0.2857 | 6 | c.366 others(25): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 31/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21834784 | T | TACACAC | intron_variant | MODIFIER | HG03491.hp1 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 a0001c0001t0001g0123 |
2 | 209 | 0.0096 | 6 | c.356 others(25): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 30/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21834786 | T | TACACAC | intron_variant | MODIFIER | HG01981.hp2 HG02027.hp1 NA18962.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 a0001c0001t0001g0116 a0001c0001t0001g0118 |
3 | 59 | 0.0508 | 6 | c.356 others(25): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 30/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21834786 | T | TATACAC | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG01074.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0010 others(20): Show |
23 | 79 | 0.2911 | 6 | c.356 others(25): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 30/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21881707 | A | AACACAC | intron_variant | MODIFIER | HG01168.hp1 HG01175.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0132 a0001c0001t0001g0152 a0001c0001t0013g0072 |
3 | 21 | 0.1429 | 6 | c.201 others(25): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 16/39 | chr12 | TogoVar | |||||||
ABCC9_chr12_21792389_21946426 | 21915225 | A | ATGTGTG | intron_variant | MODIFIER | HG02486.hp1 HG02572.hp1 HG02647.hp2 others(5): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0005a0001c0001t0010others(2): Show | a0001c0001t0001g0044 a0001c0001t0001g0070 a0001c0001t0005g0068 others(5): Show |
8 | 152 | 0.0526 | 6 | c.816 others(21): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | |||||||
ABCD3_chr1_94413389_94523663 | 94421562 | A | ATGTGTG | intron_variant | MODIFIER | HG00621.hp2 HG01256.hp1 HG01884.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0017 a0001c0001t0003g0343 a0001c0001t0003g0344 others(14): Show |
17 | 98 | 0.1735 | 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 | 94438301 | T | TACACAC | intron_variant | MODIFIER | HG01884.hp1 HG01981.hp2 HG02004.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0004 a0001c0001t0001g0017 a0001c0001t0001g0039 others(15): Show |
18 | 122 | 0.1475 | 6 | c.110 others(25): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74280649 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01070.hp1 HG01071.hp2 others(36): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0009 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0024 others(24): Show |
39 | 41 | 0.9512 | 6 | c.*58 others(17): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 4619 | chr14 | TogoVar | |||||||
ABCD4_chr14_74280269_74307934 | 74306574 | T | TTGTGTG | upstream_gene_variant | MODIFIER | HG03098.hp1 HG03486.hp1 HG03516.hp1 others(1): Show |
a0001a0003 | a0001c0004a0003c0003 | a0001c0004t0001a0003c0003t0013 | a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0004t0001g0093 others(1): Show |
4 | 380 | 0.0105 | 6 | c.-36 others(17): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3641 | chr14 | TogoVar | |||||||
ABCF1_chr6_30566442_30596522 | 30576276 | C | CTTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG01074.hp1 HG01106.hp2 others(24): Show |
a0001a0003a0009 | a0001c0001a0003c0003a0009c0007 | a0001c0001t0001a0003c0003t0001a0009c0007t0001 | a0001c0001t0001g0005 a0001c0001t0001g0050 a0001c0001t0001g0128 others(16): Show |
27 | 126 | 0.2143 | 6 | c.74- others(21): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
ABCF1_chr6_30566442_30596522 | 30593527 | T | TTATATA | downstream_gene_variant | MODIFIER | NA18945.hp2 NA18955.hp1 NA18963.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0022 a0001c0001t0001g0043 others(4): Show |
13 | 334 | 0.0389 | 6 | c.*28 others(17): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 2006 | chr6 | TogoVar | |||||||
ABCF3_chr3_184181199_184199005 | 184197845 | T | TTGTGTG | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00544.hp1 others(53): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0007t0001others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(14): Show |
56 | 95 | 0.5895 | 6 | c.*41 others(17): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 3841 | chr3 | TogoVar | |||||||
ABCG1_chr21_42214140_42302244 | 42219222 | C | CCCGCCG | 5_prime_UTR_variant | MODIFIER | HG01069.hp1 HG01109.hp2 HG02630.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0017a0001c0001t0028others(1): Show | a0001c0001t0012g0140 a0001c0001t0012g0141 a0001c0001t0012g0305 others(4): Show |
8 | 280 | 0.0286 | 6 | c.-14 others(12): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 1/15 | 8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42268362 | G | GGTGTGT | intron_variant | MODIFIER | HG01257.hp1 HG01257.hp2 HG01258.hp1 others(14): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0332 a0001c0001t0002g0181 a0001c0001t0004g0004 others(13): Show |
17 | 238 | 0.0714 | 6 | c.287 others(23): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42268388 | T | TGCGCGC | intron_variant | MODIFIER | HG02818.hp1 HG02922.hp1 NA18522.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0002t0002 | a0001c0001t0003g0153 a0001c0001t0004g0337 a0001c0002t0002g0282 others(1): Show |
4 | 264 | 0.0152 | 6 | c.287 others(23): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42270259 | C | CAAAAAA | intron_variant | MODIFIER | HG01884.hp2 HG02630.hp2 HG02818.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0336 a0001c0001t0002g0092 a0001c0001t0002g0277 others(5): Show |
9 | 141 | 0.0638 | 6 | c.287 others(21): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88125607 | C | CAAAAAA | intron_variant | MODIFIER | HG01175.hp1 HG01256.hp1 HG01433.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0014a0002c0002t0002 | a0001c0001t0001g0003 a0001c0001t0001g0071 a0001c0001t0001g0096 others(16): Show |
20 | 75 | 0.2667 | 6 | c.532 others(23): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 5/15 | chr4 | TogoVar | |||||||
ABCG4_chr11_119144052_119167653 | 119147426 | A | AAGAGAG | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01256.hp2 others(53): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0035 a0001c0001t0002g0037 a0001c0001t0002g0085 others(14): Show |
56 | 382 | 0.1466 | 6 | c.-19 others(17): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1625 | chr11 | TogoVar | |||||||
ABCG4_chr11_119144052_119167653 | 119147518 | A | AAAGAAG | upstream_gene_variant | MODIFIER | HG00423.hp2 HG02015.hp1 HG02015.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0002g0037 a0001c0001t0003g0003 a0001c0001t0003g0028 others(6): Show |
18 | 185 | 0.0973 | 6 | c.-18 others(17): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1533 | chr11 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43822477 | G | GCCGCCC | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG06807.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0002 | a0001c0001t0003g0011 a0002c0002t0002g0010 |
4 | 294 | 0.0136 | 6 | c.146 others(23): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 10/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43833363 | A | ATATTAT | intron_variant | MODIFIER | HG00438.hp2 HG01070.hp2 HG01071.hp1 others(13): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0015others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(5): Show | a0001c0001t0001g0012 a0001c0001t0001g0056 a0001c0001t0001g0062 others(11): Show |
16 | 99 | 0.1616 | 6 | c.266 others(23): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43843188 | A | AGCTTTT | upstream_gene_variant | MODIFIER | HG03130.hp2 HG03195.hp1 NA19240.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0181 a0002c0002t0002g0189 a0002c0002t0002g0190 |
3 | 328 | 0.0091 | 6 | c.-45 others(17): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 4350 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43843188 | A | AGCTTTT | intron_variant | MODIFIER | HG03130.hp2 HG03195.hp1 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0031a0001c0001t0059 | a0001c0001t0007g0057 a0001c0001t0031g0056 a0001c0001t0059g0133 |
3 | 316 | 0.0095 | 6 | c.64- others(21): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43846990 | G | GCACACA | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp2 HG02895.hp1 others(5): Show |
a0001a0003 | a0001c0001a0003c0010a0003c0011 | a0001c0001t0011a0001c0001t0035a0003c0010t0110others(2): Show | a0001c0001t0011g0125 a0001c0001t0035g0053 a0001c0001t0035g0054 others(4): Show |
8 | 198 | 0.0404 | 6 | c.322 others(21): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABHD10_chr3_111974026_111998368 | 111977308 | T | TACACAC | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(66): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0002c0002t0002 | a0001c0001t0002g0002 a0001c0001t0002g0034 a0001c0001t0002g0079 others(9): Show |
69 | 411 | 0.1679 | 6 | c.-17 others(17): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 1717 | chr3 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50882973 | C | CAAAAAA | intron_variant | MODIFIER | HG00609.hp2 HG01261.hp1 HG01261.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0004a0002c0002t0002others(1): Show | a0001c0001t0001g0030 a0001c0001t0001g0223 a0001c0001t0001g0247 others(4): Show |
7 | 31 | 0.2258 | 6 | c.486 others(23): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25313784 | G | GCAAAAC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(173): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(12): Show | a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0229 others(169): Show |
176 | 313 | 0.5623 | 6 | c.619 others(23): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 6/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25359423 | C | CAAAAAA | intron_variant | MODIFIER | HG01515.hp2 HG01975.hp1 HG02145.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0001t0009a0001c0005t0004 | a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0239 others(5): Show |
8 | 145 | 0.0552 | 6 | c.192 others(25): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25360227 | C | CTTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp2 others(22): Show |
a0001a0003 | a0001c0002a0001c0003a0003c0007 | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(2): Show | a0001c0002t0002g0146 a0001c0002t0002g0148 a0001c0002t0002g0156 others(22): Show |
25 | 94 | 0.2660 | 6 | c.192 others(25): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25366276 | C | CTTTTCT | intron_variant | MODIFIER | HG02145.hp1 HG02717.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0284 others(2): Show |
5 | 314 | 0.0159 | 6 | c.191 others(25): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25387590 | T | TAAAAAA | intron_variant | MODIFIER | HG01256.hp2 HG01257.hp1 HG02132.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0071 a0001c0001t0001g0072 others(7): Show |
10 | 53 | 0.1887 | 6 | c.191 others(23): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD14A_chr3_51970064_51986196 | 51981894 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG02602.hp2 HG02723.hp2 HG03491.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(1): Show |
7 | 54 | 0.1296 | 6 | c.*87 others(15): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 699 | chr3 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31694387 | C | CTTTTTT | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00673.hp1 others(58): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0004t0002 | a0001c0001t0002g0010 a0001c0001t0002g0018 a0001c0001t0002g0019 others(24): Show |
61 | 102 | 0.5980 | 6 | c.430 others(21): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 5/19 | chr6 | TogoVar | |||||||
ABHD17A_chr19_1871810_1890496 | 1874746 | C | CAAAAAA | downstream_gene_variant | MODIFIER | HG02683.hp2 HG03225.hp1 HG03225.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001 a0001c0001t0001g0031 a0001c0001t0002g0005 others(1): Show |
13 | 72 | 0.1806 | 6 | c.*24 others(17): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 2063 | chr19 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80713900 | C | CCACACA | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01175.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(23): Show |
26 | 110 | 0.2364 | 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 | 80723138 | A | ATGTGTG | intron_variant | MODIFIER | HG01109.hp1 HG01361.hp1 HG01978.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008 | a0001c0001t0001g0063 a0001c0001t0001g0156 a0001c0001t0001g0169 others(6): Show |
9 | 192 | 0.0469 | 6 | c.591 others(25): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89127706 | C | CATATAT | intron_variant | MODIFIER | HG01884.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0093 a0001c0001t0008g0100 |
2 | 198 | 0.0101 | 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 | 89127718 | T | TATACAC | intron_variant | MODIFIER | NA18906.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0226 a0001c0001t0011g0033 |
2 | 226 | 0.0088 | 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 | 89127722 | C | CACATAT | intron_variant | MODIFIER | HG00738.hp2 HG01081.hp2 HG01099.hp2 others(28): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0016 a0001c0001t0001g0018 a0001c0001t0001g0047 others(28): Show |
31 | 118 | 0.2627 | 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 | 89127722 | C | CATATAT | intron_variant | MODIFIER | HG02735.hp1 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0042 | a0001c0001t0010g0137 a0001c0001t0042g0058 |
2 | 89 | 0.0225 | 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 | 89135143 | C | CTTTTCT | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01884.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0042 a0001c0001t0001g0044 a0001c0001t0001g0097 others(16): Show |
19 | 196 | 0.0969 | 6 | 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 | 89146355 | C | CGTGTGT | intron_variant | MODIFIER | HG01433.hp1 HG02809.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0125 a0001c0001t0002g0025 a0001c0001t0004g0014 others(2): Show |
5 | 39 | 0.1282 | 6 | c.195 others(23): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |