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 | 42241977 | C | CAAAA | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00621.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0124 a0001c0001t0001g0278 a0001c0001t0001g0284 others(24): Show |
28 | 216 | 0.1296 | 4 | c.286 others(23): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42243447 | C | CGTGT | intron_variant | MODIFIER | HG02129.hp1 NA19085.hp1 NA19090.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 a0001c0001t0002g0217 a0001c0001t0002g0307 |
3 | 269 | 0.0112 | 4 | c.286 others(23): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42268362 | G | GGTGT | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp1 HG01123.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0085 a0001c0001t0001g0139 a0001c0001t0001g0205 others(12): Show |
16 | 237 | 0.0675 | 4 | c.287 others(21): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42268386 | T | TGCGC | intron_variant | MODIFIER | HG01167.hp1 HG01884.hp1 HG01884.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0315 a0001c0001t0001g0325 a0001c0001t0001g0335 others(16): Show |
19 | 351 | 0.0541 | 4 | c.287 others(21): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42270259 | C | CAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(58): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0133 a0001c0001t0001g0165 a0001c0001t0001g0166 others(58): Show |
61 | 193 | 0.3161 | 4 | c.287 others(19): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88098610 | G | GTATA | intron_variant | MODIFIER | HG00544.hp1 HG01928.hp1 HG01981.hp2 others(4): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0054 a0002c0002t0001g0065 a0002c0002t0001g0067 others(4): Show |
7 | 285 | 0.0246 | 4 | c.149 others(21): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 12/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88098645 | G | GAGAT | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp1 HG00642.hp2 others(69): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(13): Show | a0001c0001t0001g0015 a0001c0001t0001g0022 a0001c0001t0001g0025 others(68): Show |
72 | 142 | 0.5070 | 4 | c.149 others(21): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 12/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88098685 | T | TAGAC | intron_variant | MODIFIER | HG01433.hp1 HG02148.hp2 HG02965.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(1): Show | a0001c0001t0001g0110 a0001c0001t0001g0128 a0001c0001t0004g0335 others(4): Show |
7 | 313 | 0.0224 | 4 | c.149 others(21): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 12/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88147016 | G | GGAAA | intron_variant | MODIFIER | HG00423.hp2 HG00597.hp2 HG00609.hp2 others(29): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0004others(3): Show | a0001c0001t0001a0001c0001t0007a0002c0002t0001others(6): Show | a0001c0001t0001g0044 a0001c0001t0001g0153 a0001c0001t0001g0154 others(28): Show |
32 | 161 | 0.1988 | 4 | c.-19 others(21): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 1/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88156370 | C | CAAAA | intron_variant | MODIFIER | HG00621.hp1 HG01099.hp2 HG01952.hp2 others(5): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0003c0003 | a0001c0001t0001a0002c0004t0001a0003c0003t0001 | a0001c0001t0001g0321 a0001c0001t0001g0322 a0001c0001t0001g0324 others(5): Show |
8 | 163 | 0.0491 | 4 | c.-20 others(21): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 1/15 | chr4 | TogoVar | |||||||
ABCG2_chr4_88085269_88163639 | 88159564 | T | TGTGA | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00438.hp1 others(163): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0021 a0001c0001t0001g0174 a0001c0001t0001g0175 others(160): Show |
166 | 348 | 0.4770 | 4 | c.-12 others(15): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 926 | chr4 | TogoVar | |||||||
ABCG4_chr11_119144052_119167653 | 119147426 | A | AAGAG | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02486.hp2 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0003a0001c0005t0015 | a0001c0001t0002g0037 a0001c0001t0003g0003 a0001c0005t0015g0099 |
4 | 330 | 0.0121 | 4 | c.-19 others(15): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1625 | chr11 | TogoVar | |||||||
ABCG4_chr11_119144052_119167653 | 119147464 | G | GGAAA | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01109.hp1 HG01192.hp1 others(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0002g0004 a0001c0001t0002g0054 a0001c0001t0003g0044 others(9): Show |
15 | 247 | 0.0607 | 4 | c.-19 others(15): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1587 | chr11 | TogoVar | |||||||
ABCG4_chr11_119144052_119167653 | 119164798 | A | AAAAC | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(244): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0009others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0001g0014 others(72): Show |
247 | 361 | 0.6842 | 4 | c.*36 others(15): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 2146 | chr11 | TogoVar | |||||||
ABCG5_chr2_43807472_43843839 | 43822477 | G | GCCGC | intron_variant | MODIFIER | HG00639.hp2 HG01516.hp1 HG01517.hp1 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(1): Show | a0001c0001t0001g0134 a0001c0001t0001g0135 a0001c0001t0004g0255 others(3): Show |
7 | 297 | 0.0236 | 4 | c.146 others(21): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 10/12 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43845096 | G | GTATA | intron_variant | MODIFIER | HG01081.hp2 HG02293.hp2 NA18983.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0070 a0001c0001t0001g0072 a0001c0001t0003g0071 |
3 | 287 | 0.0105 | 4 | c.165 others(19): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43846990 | G | GCACA | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG01106.hp2 others(6): Show |
a0001a0003a0007 | a0001c0001a0001c0008a0003c0002others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0010others(5): Show | a0001c0001t0003g0134 a0001c0001t0007g0145 a0001c0001t0010g0060 others(5): Show |
9 | 199 | 0.0452 | 4 | c.322 others(19): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43856623 | C | CTCTA | intron_variant | MODIFIER | HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show |
a0003 | a0003c0010 | a0003c0010t0020a0003c0010t0110 | a0003c0010t0020g0036 a0003c0010t0020g0037 a0003c0010t0020g0038 others(1): Show |
4 | 316 | 0.0127 | 4 | c.964 others(21): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43860347 | A | ACTAT | intron_variant | MODIFIER | HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show |
a0003 | a0003c0010 | a0003c0010t0020a0003c0010t0110 | a0003c0010t0020g0036 a0003c0010t0020g0037 a0003c0010t0020g0038 others(1): Show |
4 | 316 | 0.0127 | 4 | c.964 others(21): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43865614 | A | ACTCT | intron_variant | MODIFIER | HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show |
a0003 | a0003c0010 | a0003c0010t0020a0003c0010t0110 | a0003c0010t0020g0036 a0003c0010t0020g0037 a0003c0010t0020g0038 others(1): Show |
4 | 316 | 0.0127 | 4 | c.965 others(21): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43865679 | G | GTCTA | intron_variant | MODIFIER | HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show |
a0003 | a0003c0010 | a0003c0010t0020a0003c0010t0110 | a0003c0010t0020g0036 a0003c0010t0020g0037 a0003c0010t0020g0038 others(1): Show |
4 | 316 | 0.0127 | 4 | c.965 others(21): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43870293 | C | CAATT | intron_variant | MODIFIER | HG01192.hp1 HG02895.hp2 HG03490.hp1 others(1): Show |
a0003 | a0003c0010 | a0003c0010t0020a0003c0010t0110 | a0003c0010t0020g0036 a0003c0010t0020g0037 a0003c0010t0020g0038 others(1): Show |
4 | 316 | 0.0127 | 4 | c.965 others(21): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 6/12 | chr2 | TogoVar | |||||||
ABCG8_chr2_43833971_43887988 | 43880649 | A | AGTGT | 3_prime_UTR_variant | MODIFIER | HG02572.hp2 NA18948.hp1 NA18952.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0068a0002c0003t0013a0002c0003t0096 | a0001c0001t0068g0101 a0002c0003t0013g0004 a0002c0003t0013g0236 others(4): Show |
9 | 211 | 0.0427 | 4 | c.*27 others(15): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 13/13 | 2752 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43884376 | A | AAAAT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00558.hp1 others(131): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0008a0002c0003others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(56): Show | a0001c0001t0001g0002 a0001c0001t0001g0047 a0001c0001t0001g0069 others(122): Show |
134 | 205 | 0.6537 | 4 | c.*64 others(15): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1389 | chr2 | TogoVar | |||||||
ABHD11_chr7_73731094_73743802 | 73733662 | A | AACAC | downstream_gene_variant | MODIFIER | HG02630.hp2 HG02698.hp2 NA19058.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 209 | 0.0191 | 4 | c.*28 others(15): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 2431 | chr7 | TogoVar | |||||||
ABHD11_chr7_73731094_73743802 | 73734468 | A | AATAT | downstream_gene_variant | MODIFIER | HG00438.hp2 NA18941.hp1 NA18944.hp2 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0001others(1): Show | a0001c0001t0001g0001 a0001c0002t0002g0002 a0001c0004t0001g0009 others(1): Show |
11 | 360 | 0.0306 | 4 | c.*20 others(15): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 1625 | chr7 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870908 | C | CAAGA | upstream_gene_variant | MODIFIER | HG02074.hp2 HG02886.hp1 NA18961.hp2 others(1): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0003c0003t0003 | a0001c0001t0001g0329 a0002c0002t0002g0020 a0002c0002t0002g0108 others(1): Show |
4 | 358 | 0.0112 | 4 | c.-12 others(15): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1144 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50882373 | C | CTTTT | intron_variant | MODIFIER | HG00621.hp1 HG00621.hp2 HG01169.hp1 others(15): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0002a0003c0003t0001 | a0001c0001t0001g0018 a0001c0001t0001g0038 a0001c0001t0001g0085 others(14): Show |
18 | 24 | 0.7500 | 4 | c.486 others(19): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50882973 | C | CAAAA | intron_variant | MODIFIER | HG00099.hp1 HG01074.hp1 HG01074.hp2 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0004others(4): Show | a0001c0001t0001g0042 a0001c0001t0001g0120 a0001c0001t0001g0180 others(11): Show |
14 | 38 | 0.3684 | 4 | c.486 others(21): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25320835 | T | TATGC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(142): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0009a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0001t0009g0287 a0001c0001t0009g0288 a0001c0001t0009g0289 others(139): Show |
145 | 314 | 0.4618 | 4 | c.423 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25334167 | G | GACAA | intron_variant | MODIFIER | HG01167.hp2 HG01361.hp1 HG01891.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0004t0004 | a0001c0001t0004g0229 a0001c0001t0004g0233 a0001c0001t0004g0234 others(5): Show |
8 | 314 | 0.0255 | 4 | c.316 others(21): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25350959 | T | TCACA | intron_variant | MODIFIER | HG02818.hp1 HG02965.hp2 HG06807.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0040 others(2): Show |
5 | 35 | 0.1429 | 4 | c.192 others(23): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25360227 | C | CTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00642.hp2 HG00733.hp1 others(27): Show |
a0001a0005 | a0001c0002a0001c0003a0005c0008 | a0001c0002t0003a0001c0003t0002a0005c0008t0002 | a0001c0002t0003g0001 a0001c0002t0003g0181 a0001c0002t0003g0184 others(25): Show |
30 | 99 | 0.3030 | 4 | c.192 others(23): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25369927 | T | TAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01109.hp1 others(21): Show |
a0001a0003a0005 | a0001c0002a0001c0003a0003c0007others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0010others(3): Show | a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 others(21): Show |
24 | 52 | 0.4615 | 4 | c.191 others(23): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25390476 | G | GCCCC | intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 HG02132.hp1 others(7): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0009a0001c0005t0004 | a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0047 others(7): Show |
10 | 49 | 0.2041 | 4 | c.191 others(17): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25393470 | C | CAAAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(94): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0004a0001c0002t0002a0001c0002t0003others(6): Show | a0001c0001t0004g0233 a0001c0001t0004g0238 a0001c0001t0004g0239 others(92): Show |
97 | 141 | 0.6879 | 4 | c.-27 others(15): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2636 | chr20 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108236682 | A | ATTTT | downstream_gene_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG00735.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0019 a0001c0001t0003g0002 a0001c0001t0003g0025 others(16): Show |
31 | 204 | 0.1520 | 4 | c.*64 others(15): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2440 | chr13 | TogoVar | |||||||
ABHD14A_chr3_51970064_51986196 | 51981122 | A | AGCTG | 3_prime_UTR_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG01934.hp1 others(23): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0006 a0002c0002t0002g0007 a0002c0002t0002g0009 others(6): Show |
26 | 342 | 0.0760 | 4 | c.*10 others(13): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 5/5 | 106 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD14A_chr3_51970064_51986196 | 51981894 | C | CAAAA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01952.hp2 HG02074.hp1 others(8): Show |
a0001a0006 | a0001c0001a0006c0007 | a0001c0001t0001a0006c0007t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0006c0007t0001g0036 |
11 | 58 | 0.1897 | 4 | c.*87 others(13): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 699 | chr3 | TogoVar | |||||||
ABHD16B_chr20_63856498_63867988 | 63857536 | C | CTTTT | upstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(62): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0000 a0002c0002t0001g0000 a0003c0003t0001g0000 others(2): Show |
65 | 387 | 0.1680 | 4 | c.-40 others(15): Show |
ABHD16B | ENSG00000183260.7 | transcript | ENST00000369916.5 | protein_coding | 3961 | chr20 | TogoVar | |||||||
ABHD16B_chr20_63856498_63867988 | 63866088 | A | ATTTC | downstream_gene_variant | MODIFIER | HG02071.hp1 HG02080.hp2 HG02451.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0001c0017others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0017t0001others(3): Show | a0001c0001t0001g0000 a0001c0004t0001g0000 a0001c0017t0001g0000 others(3): Show |
8 | 391 | 0.0205 | 4 | c.*31 others(15): Show |
ABHD16B | ENSG00000183260.7 | transcript | ENST00000369916.5 | protein_coding | 3101 | chr20 | TogoVar | |||||||
ABHD17A_chr19_1871810_1890496 | 1886552 | G | GATAA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp2 HG00639.hp2 others(100): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(25): Show |
103 | 371 | 0.2776 | 4 | c.-14 others(15): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 1057 | chr19 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71862293 | A | ATAAC | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(169): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(138): Show |
172 | 184 | 0.9348 | 4 | c.*44 others(15): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 2858 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71890107 | A | AAAAT | intron_variant | MODIFIER | HG01261.hp1 HG01981.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0044 a0001c0001t0001g0068 others(1): Show |
4 | 170 | 0.0235 | 4 | c.-3- others(21): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71896681 | A | AACAC | intron_variant | MODIFIER | HG01106.hp1 HG02723.hp2 HG02970.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0028 a0001c0001t0001g0083 a0001c0001t0001g0084 others(3): Show |
6 | 24 | 0.2500 | 4 | c.-4+ others(21): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71898638 | T | TCAAA | intron_variant | MODIFIER | HG02922.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 a0001c0001t0001g0120 |
2 | 184 | 0.0109 | 4 | c.-4+ others(21): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80713900 | C | CCACA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00642.hp2 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0124 a0001c0001t0001g0131 a0001c0001t0001g0132 others(59): Show |
62 | 146 | 0.4247 | 4 | c.590 others(23): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80717271 | A | AAAAC | intron_variant | MODIFIER | HG00280.hp1 HG00735.hp2 HG01192.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0117 a0001c0001t0001g0181 a0001c0001t0001g0183 others(12): Show |
15 | 18 | 0.8333 | 4 | c.590 others(23): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | chr15 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80719722 | G | GCTAT | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00733.hp1 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0033 a0001c0001t0003g0320 a0001c0001t0003g0324 others(23): Show |
29 | 358 | 0.0810 | 4 | c.590 others(23): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80723138 | A | ATGTG | intron_variant | MODIFIER | HG01069.hp2 HG01099.hp2 HG01106.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0158 a0001c0001t0001g0167 a0001c0001t0001g0185 others(10): Show |
16 | 199 | 0.0804 | 4 | c.591 others(23): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |