regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCD4_chr14_74280269_74307934 | 74287566 | A | AAAAG | intron_variant | MODIFIER | HG01109.hp2 HG02258.hp1 HG02486.hp1 others(5): Show |
a0003 | a0003c0003 | a0003c0003t0005a0003c0003t0009a0003c0003t0013others(2): Show | a0003c0003t0005g0132a0003c0003t0009g0033a0003c0003t0009g0098others(4): Show | 8 | 384 | 0.0208 | 4 | c.163 others(21): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 17/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74301900 | A | AAAAG | intron_variant | MODIFIER | HG01516.hp1 HG02559.hp2 HG02922.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(2): Show | a0001c0001t0001g0158a0001c0001t0002g0096a0001c0001t0010g0032others(3): Show | 7 | 384 | 0.0182 | 4 | c.38+ others(17): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 1/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74303731 | C | CGGAG | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01070.hp1 HG01071.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007a0001c0001t0003g0034a0001c0001t0003g0050others(1): Show | 8 | 384 | 0.0208 | 4 | c.-82 others(13): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 798 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74306145 | C | CATAT | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01361.hp2 HG02602.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0002a0001c0001t0001g0024a0001c0001t0001g0158others(2): Show | 6 | 384 | 0.0156 | 4 | c.-32 others(15): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3212 | chr14 | TogoVar | ||||||
ABCE1_chr4_145093311_145134524 | 145130557 | A | ATGAT | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02572.hp1 HG03225.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0030a0001c0001t0001g0099a0001c0001t0005g0135others(1): Show | 5 | 260 | 0.0192 | 4 | c.*29 others(15): Show |
ABCE1 | ENSG00000164163.11 | transcript | ENST00000296577.9 | protein_coding | 1034 | chr4 | TogoVar | ||||||
ABCF1_chr6_30566442_30596522 | 30576276 | C | CTTTT | intron_variant | MODIFIER | HG00140.hp2 HG00738.hp2 HG01109.hp1 others(36): Show |
a0001a0002 | a0001c0001a0002c0013 | a0001c0001t0001a0002c0013t0002 | a0001c0001t0001g0030a0001c0001t0001g0032a0001c0001t0001g0036others(25): Show | 39 | 415 | 0.0940 | 4 | c.74- others(19): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ABCF1_chr6_30566442_30596522 | 30593527 | T | TTATA | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00733.hp1 others(10): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0020a0001c0001t0001g0033a0001c0001t0001g0089others(5): Show | 13 | 415 | 0.0313 | 4 | c.*28 others(15): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 2006 | chr6 | TogoVar | ||||||
ABCF2_chr7_151206484_151232205 | 151206719 | A | AAGAT | downstream_gene_variant | MODIFIER | HG00673.hp2 HG01943.hp1 HG02056.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0002a0001c0003t0015 | a0001c0001t0001g0003a0001c0001t0001g0016a0001c0001t0001g0023others(5): Show | 13 | 390 | 0.0333 | 4 | c.*73 others(15): Show |
ABCF2 | ENSG00000033050.9 | transcript | ENST00000287844.7 | protein_coding | 4764 | chr7 | TogoVar | ||||||
ABCF2_chr7_151206484_151232205 | 151209151 | T | TCCCA | downstream_gene_variant | MODIFIER | HG01256.hp2 HG01261.hp1 HG01891.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016a0001c0001t0001g0042a0001c0001t0001g0043 | 5 | 390 | 0.0128 | 4 | c.*48 others(15): Show |
ABCF2 | ENSG00000033050.9 | transcript | ENST00000287844.7 | protein_coding | 2332 | chr7 | TogoVar | ||||||
ABCF3_chr3_184181199_184199005 | 184197845 | T | TTGTG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(123): Show |
a0001a0002a0006others(2): Show | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0003others(23): Show | 126 | 416 | 0.3029 | 4 | c.*41 others(15): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 3841 | chr3 | TogoVar | ||||||
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 | a0001c0001t0001g0122a0001c0001t0001g0278a0001c0001t0001g0284others(24): Show | 28 | 354 | 0.0791 | 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 | a0001c0001t0002g0114a0001c0001t0002g0203a0001c0001t0002g0309 | 3 | 354 | 0.0085 | 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 | a0001c0001t0001g0083a0001c0001t0001g0139a0001c0001t0001g0207others(13): Show | 16 | 354 | 0.0452 | 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 | a0001c0001t0001g0317a0001c0001t0001g0327a0001c0001t0001g0336others(16): Show | 19 | 354 | 0.0537 | 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 | a0001c0001t0001g0133a0001c0001t0001g0165a0001c0001t0001g0166others(58): Show | 61 | 354 | 0.1723 | 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 | a0002c0002t0001g0054a0002c0002t0001g0065a0002c0002t0001g0067others(4): Show | 7 | 350 | 0.0200 | 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 | a0001c0001t0001g0015a0001c0001t0001g0023a0001c0001t0001g0026others(68): Show | 72 | 350 | 0.2057 | 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 | a0001c0001t0001g0110a0001c0001t0001g0128a0001c0001t0004g0335others(4): Show | 7 | 350 | 0.0200 | 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 | a0001c0001t0001g0045a0001c0001t0001g0153a0001c0001t0001g0154others(28): Show | 32 | 350 | 0.0914 | 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 | a0001c0001t0001g0321a0001c0001t0001g0322a0001c0001t0001g0324others(5): Show | 8 | 350 | 0.0229 | 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 | a0001c0001t0001g0021a0001c0001t0001g0174a0001c0001t0001g0175others(160): Show | 166 | 350 | 0.4743 | 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 | a0001c0001t0002g0039a0001c0001t0003g0003a0001c0005t0015g0101 | 4 | 388 | 0.0103 | 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 | a0001c0001t0002g0004a0001c0001t0002g0056a0001c0001t0003g0046others(9): Show | 15 | 388 | 0.0387 | 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 | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0013others(73): Show | 247 | 388 | 0.6366 | 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 | a0001c0001t0001g0138a0001c0001t0001g0139a0001c0001t0004g0269others(3): Show | 7 | 330 | 0.0212 | 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 | a0001c0001t0005a0001c0001t0032 | a0001c0001t0005g0125a0001c0001t0005g0127a0001c0001t0032g0126 | 3 | 318 | 0.0094 | 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 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(5): Show | a0001c0001t0001g0134a0001c0001t0009g0060a0001c0001t0010g0011others(5): Show | 9 | 318 | 0.0283 | 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 | a0003c0010t0023a0003c0010t0123 | a0003c0010t0023g0036a0003c0010t0023g0037a0003c0010t0023g0039others(1): Show | 4 | 318 | 0.0126 | 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 | a0003c0010t0023a0003c0010t0123 | a0003c0010t0023g0036a0003c0010t0023g0037a0003c0010t0023g0039others(1): Show | 4 | 318 | 0.0126 | 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 | a0003c0010t0023a0003c0010t0123 | a0003c0010t0023g0036a0003c0010t0023g0037a0003c0010t0023g0039others(1): Show | 4 | 318 | 0.0126 | 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 | a0003c0010t0023a0003c0010t0123 | a0003c0010t0023g0036a0003c0010t0023g0037a0003c0010t0023g0039others(1): Show | 4 | 318 | 0.0126 | 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 | a0003c0010t0023a0003c0010t0123 | a0003c0010t0023g0036a0003c0010t0023g0037a0003c0010t0023g0039others(1): Show | 4 | 318 | 0.0126 | 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 | a0001c0001t0072a0002c0003t0016a0002c0003t0048others(1): Show | a0001c0001t0072g0096a0002c0003t0016g0004a0002c0003t0016g0239others(5): Show | 9 | 318 | 0.0283 | 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 | a0001c0001t0001a0001c0001t0005a0001c0001t0015others(64): Show | a0001c0001t0001g0050a0001c0001t0001g0058a0001c0001t0001g0059others(122): Show | 134 | 318 | 0.4214 | 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 | 428 | 0.0094 | 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 | a0001c0001t0001g0001a0001c0002t0002g0002a0001c0004t0001g0009others(1): Show | 11 | 428 | 0.0257 | 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 | a0001c0001t0001g0329a0002c0002t0002g0020a0002c0002t0002g0109others(1): Show | 4 | 376 | 0.0106 | 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 | a0001c0001t0001g0018a0001c0001t0001g0038a0001c0001t0001g0086others(14): Show | 18 | 376 | 0.0479 | 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(12): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0004others(4): Show | a0001c0001t0001g0043a0001c0001t0001g0121a0001c0001t0001g0180others(12): Show | 15 | 376 | 0.0399 | 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 | a0001c0001t0010a0001c0002t0002a0001c0002t0003others(8): Show | a0001c0001t0010g0290a0001c0001t0010g0292a0001c0001t0010g0294others(142): Show | 145 | 316 | 0.4589 | 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 | a0001c0001t0004g0266a0001c0001t0004g0276a0001c0001t0004g0280others(5): Show | 8 | 316 | 0.0253 | 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 | a0001c0001t0001g0067a0001c0001t0001g0111a0001c0001t0001g0112others(2): Show | 5 | 316 | 0.0158 | 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 | a0001c0002t0003a0001c0003t0002a0001c0003t0006others(1): Show | a0001c0002t0003g0176a0001c0002t0003g0179a0001c0002t0003g0180others(27): Show | 30 | 316 | 0.0949 | 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 | a0001c0002t0002a0001c0002t0003a0001c0002t0011others(3): Show | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142others(21): Show | 24 | 316 | 0.0760 | 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 | a0001c0001t0001a0001c0001t0010a0001c0005t0004 | a0001c0001t0001g0124a0001c0001t0001g0125a0001c0001t0001g0126others(7): Show | 10 | 316 | 0.0317 | 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(7): Show | a0001c0001t0004g0267a0001c0001t0004g0280a0001c0001t0004g0282others(94): Show | 97 | 316 | 0.3070 | 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 | a0001c0001t0001g0019a0001c0001t0003g0002a0001c0001t0003g0026others(16): Show | 31 | 390 | 0.0795 | 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 | a0002c0002t0002g0006a0002c0002t0002g0007a0002c0002t0002g0009others(6): Show | 26 | 344 | 0.0756 | 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 |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0001a0008c0007t0001 | a0001c0001t0001g0001a0001c0001t0001g0002a0008c0007t0001g0036 | 11 | 344 | 0.0320 | 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 | a0001c0001t0001g0000a0002c0002t0001g0000a0003c0003t0001g0000others(2): Show | 65 | 398 | 0.1633 | 4 | c.-40 others(15): Show |
ABHD16B | ENSG00000183260.7 | transcript | ENST00000369916.5 | protein_coding | 3961 | chr20 | TogoVar |