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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCG1_chr21_42214140_42302244 | 42293216 | C | CACA | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01167.hp2 others(52): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0155 a0001c0001t0002g0092 a0001c0001t0002g0097 others(50): Show |
55 | 352 | 0.1563 | 3 | c.165 others(22): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42296624 | G | GTTT | 3_prime_UTR_variant | MODIFIER | HG00642.hp1 HG01123.hp1 HG01123.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0021a0001c0001t0026 | a0001c0001t0010g0006 a0001c0001t0010g0144 a0001c0001t0010g0167 others(4): Show |
8 | 167 | 0.0479 | 3 | c.*24 others(12): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 15/15 | 246 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG2_chr4_88085269_88163639 | 88085879 | T | TCTG | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp2 others(185): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0007 a0001c0001t0001g0015 a0001c0001t0001g0019 others(182): Show |
188 | 348 | 0.5402 | 3 | c.*63 others(14): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 4389 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88119616 | G | GTTT | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00738.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(14): Show |
17 | 348 | 0.0489 | 3 | c.690 others(20): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 6/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88156370 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(159): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(14): Show | a0001c0001t0001g0003 a0001c0001t0001g0164 a0001c0001t0001g0165 others(155): Show |
162 | 317 | 0.5110 | 3 | c.-20 others(20): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 1/15 | chr4 | TogoVar | |||||||
ABCG4_chr11_119144052_119167653 | 119147517 | G | GGAA | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(25): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0018 a0001c0001t0001g0024 others(5): Show |
28 | 324 | 0.0864 | 3 | c.-18 others(14): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1534 | chr11 | TogoVar | |||||||
ABCG4_chr11_119144052_119167653 | 119158220 | T | TTTC | splice_region_variant others(1): Show |
LOW | HG01099.hp1 HG01123.hp2 HG01243.hp1 others(33): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0087 a0001c0001t0002g0012 a0001c0001t0006g0031 others(16): Show |
36 | 386 | 0.0933 | 3 | c.106 others(16): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43813709 | G | GTTT | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp2 HG01884.hp1 others(16): Show |
a0002a0006a0013 | a0002c0002a0002c0009a0006c0005others(1): Show | a0002c0002t0002a0002c0002t0008a0002c0009t0002others(3): Show | a0002c0002t0002g0002 a0002c0002t0002g0026 a0002c0002t0002g0030 others(15): Show |
19 | 181 | 0.1050 | 3 | c.176 others(20): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 12/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43815910 | G | GAAA | intron_variant | MODIFIER | HG00738.hp1 HG01261.hp2 HG01978.hp2 others(13): Show |
a0001a0004a0010others(1): Show | a0001c0001a0001c0010a0004c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0010t0004others(3): Show | a0001c0001t0003g0126 a0001c0001t0004g0021 a0001c0001t0004g0065 others(12): Show |
16 | 201 | 0.0796 | 3 | c.165 others(22): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 11/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43822476 | A | AGCC | intron_variant | MODIFIER | HG01175.hp1 HG01175.hp2 HG01516.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(2): Show | a0001c0001t0001g0052 a0001c0001t0001g0068 a0001c0001t0001g0089 others(9): Show |
13 | 317 | 0.0410 | 3 | c.146 others(20): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 10/12 | chr2 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43833363 | A | ATAT | intron_variant | MODIFIER | HG00323.hp1 HG00673.hp2 HG00733.hp2 others(38): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0002c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0068 others(33): Show |
41 | 124 | 0.3306 | 3 | c.266 others(20): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 2/12 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43845119 | T | TATA | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG01168.hp1 others(7): Show |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0007a0001c0001t0017a0001c0001t0031others(4): Show | a0001c0001t0007g0057 a0001c0001t0017g0128 a0001c0001t0031g0056 others(7): Show |
10 | 316 | 0.0316 | 3 | c.165 others(18): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43849021 | T | TAAA | intron_variant | MODIFIER | HG01346.hp2 HG02109.hp2 HG02486.hp1 others(9): Show |
a0003a0007a0009 | a0003c0002a0007c0009a0007c0020others(1): Show | a0003c0002t0026a0007c0009t0022a0007c0009t0028others(4): Show | a0003c0002t0026g0041 a0007c0009t0022g0005 a0007c0009t0022g0032 others(8): Show |
12 | 262 | 0.0458 | 3 | c.323 others(20): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43874510 | G | GCCC | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00642.hp1 others(35): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0003others(8): Show | a0001c0001t0001a0001c0001t0033a0001c0001t0069others(19): Show | a0001c0001t0001g0008 a0001c0001t0001g0085 a0001c0001t0001g0088 others(34): Show |
38 | 130 | 0.2923 | 3 | c.148 others(18): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50877866 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(227): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(16): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(214): Show |
230 | 232 | 0.9914 | 3 | c.105 others(16): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50881563 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG01175.hp1 others(7): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0008 | a0001c0001t0001a0002c0002t0002a0005c0008t0002 | a0001c0001t0001g0060 a0001c0001t0001g0085 a0001c0001t0001g0158 others(7): Show |
10 | 22 | 0.4545 | 3 | c.456 others(16): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50882373 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(191): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(17): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0011 others(181): Show |
194 | 200 | 0.9700 | 3 | c.486 others(18): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50882973 | C | CAAA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(42): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0001c0006others(6): Show | a0001c0001t0001a0001c0005t0004a0001c0006t0001others(12): Show | a0001c0001t0001g0025 a0001c0001t0001g0032 a0001c0005t0004g0347 others(40): Show |
45 | 69 | 0.6522 | 3 | c.486 others(20): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50908020 | C | CAAA | downstream_gene_variant | MODIFIER | HG02056.hp2 HG02735.hp2 HG03471.hp1 others(5): Show |
a0001a0002 | a0001c0005a0001c0011a0002c0002others(1): Show | a0001c0005t0004a0001c0005t0008a0001c0011t0004others(2): Show | a0001c0005t0004g0026 a0001c0005t0008g0212 a0001c0011t0004g0087 others(4): Show |
8 | 67 | 0.1194 | 3 | c.*36 others(14): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3051 | chr14 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25359423 | C | CAAA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00597.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 a0001c0001t0001g0029 a0001c0001t0001g0040 others(16): Show |
19 | 156 | 0.1218 | 3 | c.192 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25360227 | C | CTTT | intron_variant | MODIFIER | HG00741.hp1 HG01884.hp2 HG01891.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0010a0001c0003t0002 | a0001c0001t0001g0044 a0001c0002t0010g0298 a0001c0003t0002g0227 others(9): Show |
12 | 81 | 0.1481 | 3 | c.192 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25369927 | T | TAAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(65): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0006 | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(2): Show | a0001c0002t0002g0150 a0001c0002t0002g0151 a0001c0002t0002g0152 others(64): Show |
68 | 96 | 0.7083 | 3 | c.191 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25375697 | T | TAAA | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0004 | a0001c0001t0004g0239 a0001c0001t0004g0291 a0001c0005t0004g0292 others(1): Show |
4 | 314 | 0.0127 | 3 | c.191 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25376125 | A | AAAT | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0001t0007a0001c0005t0004 | a0001c0001t0004g0239 a0001c0001t0004g0291 a0001c0001t0007g0005 others(2): Show |
5 | 314 | 0.0159 | 3 | c.191 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25386105 | A | AAAT | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0004 a0001c0001t0005g0306 a0001c0001t0005g0307 others(5): Show |
9 | 314 | 0.0287 | 3 | c.191 others(20): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25388787 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(66): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0006others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(3): Show | a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 others(66): Show |
69 | 267 | 0.2584 | 3 | c.191 others(20): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25390476 | G | GCCC | intron_variant | MODIFIER | HG01069.hp1 HG01496.hp2 HG02083.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0033 a0001c0001t0001g0034 a0001c0001t0001g0036 others(12): Show |
15 | 54 | 0.2778 | 3 | c.191 others(16): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25393470 | C | CAAA | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01891.hp2 HG02572.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0007a0001c0002t0002others(1): Show | a0001c0001t0004g0229 a0001c0001t0004g0234 a0001c0001t0004g0235 others(8): Show |
12 | 56 | 0.2143 | 3 | c.-27 others(14): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2636 | chr20 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108218129 | A | ATAG | upstream_gene_variant | MODIFIER | NA18950.hp1 NA18950.hp2 NA18953.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0009 |
3 | 388 | 0.0077 | 3 | c.-55 others(12): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 262 | chr13 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108227422 | A | ATTG | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00609.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0014others(6): Show | a0001c0001t0004g0006 a0001c0001t0004g0011 a0001c0001t0004g0037 others(11): Show |
35 | 388 | 0.0902 | 3 | c.-20 others(20): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ABHD13_chr13_108213392_108239243 | 108231862 | G | GAAT | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(87): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(15): Show | a0001c0001t0002g0003 a0001c0001t0002g0020 a0001c0001t0002g0087 others(26): Show |
90 | 388 | 0.2320 | 3 | c.*16 others(14): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2/2 | 1634 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ABHD13_chr13_108213392_108239243 | 108236682 | A | ATTT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0009 others(20): Show |
55 | 228 | 0.2412 | 3 | c.*64 others(14): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2440 | chr13 | TogoVar | |||||||
ABHD14A_chr3_51970064_51986196 | 51981894 | C | CAAA | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01358.hp2 HG01934.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0026 others(1): Show |
26 | 73 | 0.3562 | 3 | c.*87 others(12): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 699 | chr3 | TogoVar | |||||||
ABHD14B_chr3_51963515_51979049 | 51968618 | T | TGAG | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG01884.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010 | a0001c0001t0002g0005 a0001c0001t0002g0011 a0001c0001t0002g0018 others(8): Show |
30 | 322 | 0.0932 | 3 | c.*80 others(12): Show |
ABHD14B | ENSG00000114779.20 | transcript | ENST00000361143.10 | protein_coding | 4/4 | 807 | chr3 | TogoVar | ||||||
ABHD16A_chr6_31681955_31708324 | 31699408 | C | CAAA | intron_variant | MODIFIER | HG01952.hp1 HG02071.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0002 | a0001c0001t0001g0035 a0001c0001t0001g0147 a0001c0001t0002g0109 others(2): Show |
8 | 310 | 0.0258 | 3 | c.343 others(20): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 4/19 | chr6 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31704725 | G | GTTT | upstream_gene_variant | MODIFIER | HG02027.hp2 HG02109.hp2 HG02148.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0008 | a0001c0001t0002a0001c0003t0002a0004c0008t0002 | a0001c0001t0002g0029 a0001c0001t0002g0069 a0001c0001t0002g0157 others(4): Show |
8 | 196 | 0.0408 | 3 | c.-14 others(14): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 1402 | chr6 | TogoVar | |||||||
ABHD16B_chr20_63856498_63867988 | 63863057 | C | CGGG | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00735.hp2 others(26): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0000 a0001c0005t0001g0000 a0002c0002t0001g0000 others(5): Show |
29 | 282 | 0.1028 | 3 | c.*10 others(12): Show |
ABHD16B | ENSG00000183260.7 | transcript | ENST00000369916.5 | protein_coding | 70 | chr20 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71864213 | C | CTTT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01496.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0014 others(8): Show |
11 | 26 | 0.4231 | 3 | c.*25 others(14): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 938 | chr9 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80691370 | C | CAAT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(280): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 others(264): Show |
283 | 358 | 0.7905 | 3 | c.-40 others(14): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 3939 | chr15 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80695065 | T | TGGC | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00558.hp1 others(101): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 others(93): Show |
104 | 308 | 0.3377 | 3 | c.-36 others(12): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 244 | chr15 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80717271 | A | AAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(333): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0012 others(315): Show |
336 | 339 | 0.9912 | 3 | c.590 others(22): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80725489 | C | CATT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00642.hp2 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0167 a0001c0001t0001g0169 a0001c0001t0001g0173 others(59): Show |
65 | 358 | 0.1816 | 3 | c.591 others(22): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127973817 | C | CAAA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00597.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0001c0001t0015a0002c0002t0001others(6): Show | a0001c0001t0008g0068 a0001c0001t0015g0027 a0002c0002t0001g0270 others(16): Show |
19 | 219 | 0.0868 | 3 | c.-18 others(20): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127975029 | A | ACTT | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02257.hp1 others(13): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0022a0001c0001t0035a0001c0001t0036others(7): Show | a0001c0001t0022g0337 a0001c0001t0022g0339 a0001c0001t0022g0340 others(13): Show |
16 | 342 | 0.0468 | 3 | c.-17 others(20): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 127979915 | C | CAAA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00544.hp2 others(63): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0001c0001t0022a0002c0002t0001others(20): Show | a0001c0001t0002g0221 a0001c0001t0002g0230 a0001c0001t0002g0238 others(63): Show |
66 | 246 | 0.2683 | 3 | c.-17 others(20): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128008261 | C | CTTT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00597.hp2 others(25): Show |
a0002a0003a0006 | a0002c0002a0003c0003a0006c0007 | a0002c0002t0001a0002c0002t0014a0002c0002t0020others(7): Show | a0002c0002t0001g0270 a0002c0002t0001g0278 a0002c0002t0001g0279 others(25): Show |
28 | 162 | 0.1728 | 3 | c.279 others(18): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
ABHD18_chr4_127960406_128044953 | 128042197 | A | AAAC | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02257.hp1 others(11): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0022a0001c0001t0035a0001c0001t0036others(5): Show | a0001c0001t0022g0337 a0001c0001t0022g0339 a0001c0001t0022g0340 others(11): Show |
14 | 342 | 0.0409 | 3 | c.*63 others(14): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 2245 | chr4 | TogoVar | |||||||
ABHD1_chr2_27118815_27135812 | 27127553 | C | CAAA | intron_variant | MODIFIER | HG00738.hp1 HG02922.hp1 HG02970.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012 a0002c0002t0001g0039 a0002c0002t0001g0121 |
6 | 32 | 0.1875 | 3 | c.115 others(18): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89100284 | A | ATTT | intron_variant | MODIFIER | HG01243.hp2 HG02145.hp2 HG02258.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0007 a0001c0001t0001g0029 others(8): Show |
11 | 222 | 0.0495 | 3 | c.-10 others(24): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD2_chr15_89083456_89207355 | 89133834 | A | ATTT | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp1 HG01081.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0005 a0001c0001t0001g0019 a0001c0001t0001g0020 others(30): Show |
33 | 149 | 0.2215 | 3 | c.194 others(22): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |