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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCD3_chr1_94413389_94523663 | 94438297 | CACAT | C | intron_variant | MODIFIER | HG00544.hp2 HG00735.hp1 HG01109.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0026 | a0001c0001t0001g0264a0001c0002t0002g0106a0001c0002t0002g0107others(15): Show | 18 | 362 | 0.0497 | -4 | 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 | TACAC | T | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00544.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0182a0001c0001t0003g0193a0001c0001t0003g0194others(47): Show | 50 | 362 | 0.1381 | -4 | 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 | 94456255 | ATTTT | A | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp1 HG00621.hp2 others(58): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0022a0001c0001t0001g0271a0001c0001t0001g0272others(58): Show | 61 | 362 | 0.1685 | -4 | c.111 others(21): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94461459 | ATGTG | A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00609.hp2 others(93): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(3): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0010others(92): Show | 96 | 362 | 0.2652 | -4 | c.147 others(21): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 2/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94496694 | GTTTT | G | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00609.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0019others(4): Show | a0001c0001t0001g0293a0001c0001t0001g0295a0001c0001t0002g0114others(41): Show | 44 | 362 | 0.1216 | -4 | c.138 others(23): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD4_chr14_74280269_74307934 | 74289111 | CAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00621.hp1 others(81): Show |
a0001 | a0001c0001a0001c0015a0001c0016others(2): Show | a0001c0001t0002a0001c0001t0010a0001c0015t0002others(3): Show | a0001c0001t0002g0001a0001c0001t0002g0010a0001c0001t0002g0021others(32): Show | 84 | 384 | 0.2188 | -4 | c.145 others(21): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 14/18 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74306145 | CATAT | C | upstream_gene_variant | MODIFIER | HG00280.hp1 HG01243.hp1 HG01346.hp1 others(47): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0009others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0024others(34): Show | 50 | 384 | 0.1302 | -4 | c.-32 others(15): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3212 | chr14 | TogoVar | ||||||
ABCE1_chr4_145093311_145134524 | 145119771 | TTAAA | T | intron_variant | MODIFIER | HG02145.hp1 HG03209.hp2 NA18522.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0013a0001c0002t0003g0090 | 4 | 260 | 0.0154 | -4 | c.923 others(19): Show |
ABCE1 | ENSG00000164163.11 | transcript | ENST00000296577.9 | protein_coding | 10/17 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABCF1_chr6_30566442_30596522 | 30586805 | AGAGT | A | intron_variant | MODIFIER | HG02145.hp2 HG02630.hp2 HG03209.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0110a0001c0001t0001g0111a0001c0001t0001g0112others(1): Show | 4 | 415 | 0.0096 | -4 | c.203 others(19): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 20/24 | chr6 | TogoVar | ||||||
ABCF1_chr6_30566442_30596522 | 30594999 | TAGTG | T | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00733.hp1 HG01361.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0089a0001c0001t0001g0090 | 6 | 415 | 0.0145 | -4 | c.*42 others(15): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 3478 | chr6 | TogoVar | ||||||
ABCF2_chr7_151206484_151232205 | 151206719 | AAGAT | A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG02080.hp1 NA18943.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0003t0002a0001c0009t0001 | a0001c0001t0001g0003a0001c0003t0002g0002a0001c0003t0002g0006others(1): Show | 5 | 390 | 0.0128 | -4 | c.*73 others(15): Show |
ABCF2 | ENSG00000033050.9 | transcript | ENST00000287844.7 | protein_coding | 4764 | chr7 | TogoVar | ||||||
ABCF2_chr7_151206484_151232205 | 151210411 | TGGGA | T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG01943.hp2 HG01978.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0014a0001c0001t0033a0001c0002t0007others(5): Show | a0001c0001t0014g0021a0001c0001t0033g0097a0001c0002t0007g0013others(7): Show | 19 | 390 | 0.0487 | -4 | c.*36 others(15): Show |
ABCF2 | ENSG00000033050.9 | transcript | ENST00000287844.7 | protein_coding | 1072 | chr7 | TogoVar | ||||||
ABCF2_chr7_151206484_151232205 | 151210415 | AGGGG | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(32): Show |
a0001 | a0001c0001a0001c0004a0001c0005others(2): Show | a0001c0001t0001a0001c0004t0004a0001c0004t0046others(5): Show | a0001c0001t0001g0034a0001c0001t0001g0103a0001c0004t0004g0005others(9): Show | 35 | 390 | 0.0897 | -4 | c.*36 others(15): Show |
ABCF2 | ENSG00000033050.9 | transcript | ENST00000287844.7 | protein_coding | 1068 | chr7 | TogoVar | ||||||
ABCF2_chr7_151206484_151232205 | 151216064 | CAAAG | C | intron_variant | MODIFIER | HG01884.hp1 HG01978.hp1 HG02055.hp2 others(7): Show |
a0001 | a0001c0006a0001c0008a0001c0013 | a0001c0006t0010a0001c0006t0013a0001c0008t0010others(1): Show | a0001c0006t0010g0072a0001c0006t0010g0073a0001c0006t0013g0030others(4): Show | 10 | 390 | 0.0256 | -4 | c.133 others(19): Show |
ABCF2 | ENSG00000033050.9 | transcript | ENST00000287844.7 | protein_coding | 11/14 | chr7 | TogoVar | ||||||
ABCF3_chr3_184181199_184199005 | 184197845 | TTGTG | T | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00621.hp1 others(29): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0001a0003c0004t0001 | a0001c0001t0001g0004a0001c0001t0001g0011a0001c0001t0001g0043others(5): Show | 32 | 416 | 0.0769 | -4 | c.*41 others(15): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 3841 | chr3 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42227839 | GGAGA | G | intron_variant | MODIFIER | HG02451.hp2 HG02486.hp2 HG02559.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0030others(1): Show | a0001c0001t0001g0096a0001c0001t0001g0097a0001c0001t0004g0269others(2): Show | 5 | 354 | 0.0141 | -4 | c.286 others(21): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42243441 | TGTGC | T | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00544.hp1 others(91): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0083a0001c0001t0001g0091a0001c0001t0001g0133others(88): Show | 94 | 354 | 0.2655 | -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 | 42243445 | CGCGT | C | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00639.hp2 others(39): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0082a0001c0001t0001g0122a0001c0001t0001g0145others(39): Show | 42 | 354 | 0.1186 | -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 | CGTGT | C | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01074.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0238a0001c0001t0001g0290a0001c0001t0001g0342others(13): Show | 16 | 354 | 0.0452 | -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 | 42243487 | TGTGC | T | intron_variant | MODIFIER | HG01243.hp2 HG02886.hp1 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0091a0001c0001t0001g0297a0001c0001t0002g0277others(3): Show | 6 | 354 | 0.0170 | -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 | 42300359 | ACACG | A | downstream_gene_variant | MODIFIER | HG02622.hp2 HG02886.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0004a0001c0001t0014a0001c0012t0004 | a0001c0001t0004g0279a0001c0001t0014g0062a0001c0012t0004g0276 | 3 | 354 | 0.0085 | -4 | c.*39 others(15): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 3116 | chr21 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88098645 | GAGAT | G | intron_variant | MODIFIER | HG02895.hp1 NA18960.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083a0001c0001t0001g0115a0001c0001t0001g0174 | 3 | 350 | 0.0086 | -4 | c.149 others(21): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 12/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88146898 | AGAAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp1 others(287): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(24): Show | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0049others(282): Show | 290 | 350 | 0.8286 | -4 | c.-19 others(21): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 1/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88146947 | AAGGG | A | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00738.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155a0001c0001t0001g0156a0001c0001t0001g0157others(6): Show | 9 | 350 | 0.0257 | -4 | c.-19 others(21): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 1/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88147016 | GGAAA | G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp1 others(53): Show |
a0001a0003a0008 | a0001c0001a0003c0003a0008c0011 | a0001c0001t0001a0001c0001t0005a0001c0001t0016others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0172a0001c0001t0001g0173others(53): Show | 56 | 350 | 0.1600 | -4 | c.-19 others(21): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 1/15 | chr4 | TogoVar | ||||||
ABCG4_chr11_119144052_119167653 | 119147464 | GGAAA | G | upstream_gene_variant | MODIFIER | HG01081.hp2 HG01175.hp1 HG01175.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0018others(3): Show | a0001c0001t0002g0002a0001c0001t0002g0004a0001c0001t0002g0011others(10): Show | 20 | 388 | 0.0516 | -4 | c.-19 others(15): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1587 | chr11 | TogoVar | ||||||
ABCG4_chr11_119144052_119167653 | 119152957 | TCTTA | T | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp1 HG03041.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0021a0002c0002t0002g0045 | 4 | 388 | 0.0103 | -4 | c.239 others(21): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ABCG4_chr11_119144052_119167653 | 119164798 | AAAAC | A | downstream_gene_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02258.hp1 others(10): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0002g0017others(6): Show | 13 | 388 | 0.0335 | -4 | c.*36 others(15): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 2146 | chr11 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43808964 | TACAC | T | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00738.hp1 HG01175.hp1 others(31): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0010a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0042a0001c0001t0001g0165a0001c0001t0001g0251others(29): Show | 34 | 330 | 0.1030 | -4 | c.*41 others(15): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 3507 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43839403 | CTTTT | C | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01106.hp1 others(33): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0039others(29): Show | 36 | 330 | 0.1091 | -4 | c.-72 others(13): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 565 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43839403 | CTTTT | C | intron_variant | MODIFIER | HG00738.hp1 HG01070.hp1 HG01106.hp1 others(38): Show |
a0002a0003a0008others(3): Show | a0002c0003a0002c0004a0002c0026others(5): Show | a0002c0003t0002a0002c0003t0003a0002c0003t0006others(23): Show | a0002c0003t0002g0197a0002c0003t0002g0210a0002c0003t0003g0196others(36): Show | 41 | 318 | 0.1289 | -4 | c.63+ others(17): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43845096 | GTGTA | G | intron_variant | MODIFIER | HG01256.hp1 HG01433.hp1 HG01496.hp2 others(8): Show |
a0002a0003a0006 | a0002c0003a0002c0004a0003c0002others(1): Show | a0002c0003t0003a0002c0003t0119a0002c0004t0011others(3): Show | a0002c0003t0003g0222a0002c0003t0003g0223a0002c0003t0119g0186others(8): Show | 11 | 318 | 0.0346 | -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 | 43846988 | GTGCA | G | intron_variant | MODIFIER | HG00642.hp2 HG01074.hp1 HG01099.hp1 others(12): Show |
a0003a0016 | a0003c0002a0003c0017a0016c0025 | a0003c0002t0021a0003c0002t0022a0003c0002t0029others(4): Show | a0003c0002t0021g0063a0003c0002t0021g0157a0003c0002t0021g0163others(10): Show | 15 | 318 | 0.0472 | -4 | c.322 others(19): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43846990 | GCACA | G | intron_variant | MODIFIER | HG01074.hp2 HG01433.hp2 HG02027.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0033a0001c0001t0073a0003c0002t0002others(1): Show | a0001c0001t0033g0113a0001c0001t0073g0067a0003c0002t0002g0287others(1): Show | 4 | 318 | 0.0126 | -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 | 43855961 | TCTCA | T | intron_variant | MODIFIER | HG01884.hp2 HG02809.hp2 HG03453.hp1 |
a0003 | a0003c0002 | a0003c0002t0046a0003c0002t0102 | a0003c0002t0046g0016a0003c0002t0102g0161 | 3 | 318 | 0.0094 | -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 | 43859180 | ACTGT | A | intron_variant | MODIFIER | HG01346.hp2 HG02109.hp2 HG02486.hp1 others(10): Show |
a0003a0007a0009others(1): Show | a0003c0002a0007c0009a0007c0020others(2): Show | a0003c0002t0028a0007c0009t0024a0007c0009t0030others(5): Show | a0003c0002t0028g0041a0007c0009t0024g0005a0007c0009t0024g0032others(9): Show | 13 | 318 | 0.0409 | -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 | 43865696 | AATAT | A | 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 | 43880332 | CCTGG | C | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00558.hp1 HG00621.hp2 others(54): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0003a0003c0002others(10): Show | a0001c0001t0015a0001c0001t0020a0001c0001t0037others(25): Show | a0001c0001t0015g0057a0001c0001t0015g0142a0001c0001t0020g0010others(51): Show | 57 | 318 | 0.1793 | -4 | c.*24 others(15): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 13/13 | 2422 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||
ABCG8_chr2_43833971_43887988 | 43884376 | AAAAT | A | downstream_gene_variant | MODIFIER | HG02647.hp1 HG02965.hp1 HG02976.hp2 others(7): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0003c0002others(3): Show | a0001c0001t0064a0002c0003t0012a0003c0002t0101others(4): Show | a0001c0001t0064g0133a0002c0003t0012g0147a0002c0003t0012g0177others(6): Show | 10 | 318 | 0.0315 | -4 | c.*64 others(15): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 1389 | chr2 | TogoVar | ||||||
ABHD10_chr3_111974026_111998368 | 111981501 | CTCTG | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(75): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0007a0002c0002t0002 | a0001c0001t0002g0002a0001c0001t0002g0024a0001c0001t0002g0035others(11): Show | 78 | 424 | 0.1840 | -4 | c.143 others(19): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD10_chr3_111974026_111998368 | 111983078 | TTTCA | T | intron_variant | MODIFIER | NA18950.hp1 NA18950.hp2 NA18953.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 4 | 424 | 0.0094 | -4 | c.326 others(21): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD10_chr3_111974026_111998368 | 111983559 | CTAAT | C | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00639.hp1 others(100): Show |
a0001a0005 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(33): Show | 103 | 424 | 0.2429 | -4 | c.326 others(21): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD10_chr3_111974026_111998368 | 111993873 | CTAAA | C | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02818.hp1 HG02970.hp1 others(2): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0004a0004c0007t0004 | a0001c0001t0004g0022a0001c0001t0004g0042a0004c0007t0004g0041 | 5 | 424 | 0.0118 | -4 | c.*21 others(15): Show |
ABHD10 | ENSG00000144827.9 | transcript | ENST00000273359.8 | protein_coding | 506 | chr3 | TogoVar | ||||||
ABHD11_chr7_73731094_73743802 | 73735739 | TGGAG | T | downstream_gene_variant | MODIFIER | HG03139.hp2 HG03516.hp2 NA19043.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0004 | 3 | 428 | 0.0070 | -4 | c.*81 others(13): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 354 | chr7 | TogoVar | ||||||
ABHD11_chr7_73731094_73743802 | 73735750 | CTGCA | C | downstream_gene_variant | MODIFIER | HG03139.hp2 HG03516.hp2 NA19043.hp2 |
a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0004 | 3 | 428 | 0.0070 | -4 | c.*80 others(13): Show |
ABHD11 | ENSG00000106077.19 | transcript | ENST00000222800.8 | protein_coding | 343 | chr7 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25298029 | CACTA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(205): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0010others(204): Show | 208 | 316 | 0.6582 | -4 | c.*28 others(15): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2184 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25325203 | CAAAA | C | intron_variant | MODIFIER | HG01081.hp2 HG01169.hp1 HG01515.hp1 others(6): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(2): Show | a0001c0002t0002g0148a0001c0002t0002g0172a0001c0002t0002g0202others(6): Show | 9 | 316 | 0.0285 | -4 | c.317 others(21): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25333065 | CTAAT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(148): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0004a0001c0001t0010a0001c0002t0002others(10): Show | a0001c0001t0004g0224a0001c0001t0004g0225a0001c0001t0004g0267others(148): Show | 151 | 316 | 0.4779 | -4 | c.316 others(21): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25350959 | TCACA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(49): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0012others(49): Show | 52 | 316 | 0.1646 | -4 | c.192 others(23): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25359423 | CAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001a0001c0001t0005g0309a0001c0001t0005g0310others(5): Show | 9 | 316 | 0.0285 | -4 | c.192 others(23): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar |