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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCC9_chr12_21792389_21946426 | 21818458 | ATATATC | A | intron_variant | MODIFIER | HG00621.hp1 HG00639.hp2 HG01255.hp2 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0019a0001c0002t0023others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0008a0001c0001t0001g0009others(36): Show | 40 | 212 | 0.1887 | -6 | c.367 others(23): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 31/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21818526 | ATGTGTG | A | intron_variant | MODIFIER | HG02647.hp2 HG03669.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0005 | a0001c0001t0001g0020a0001c0006t0005g0192 | 2 | 212 | 0.0094 | -6 | c.367 others(23): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 31/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21827527 | AACACAC | A | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp2 HG02895.hp1 others(5): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0034a0001c0001t0001g0035a0001c0001t0001g0036others(5): Show | 8 | 212 | 0.0377 | -6 | c.366 others(25): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 31/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21834786 | TACACAC | T | intron_variant | MODIFIER | HG00408.hp1 HG01884.hp1 HG01884.hp2 others(20): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0001a0001c0001t0010a0001c0010t0001 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0001t0001g0013others(20): Show | 23 | 212 | 0.1085 | -6 | c.356 others(25): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 30/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21841342 | GTTTCCT | G | intron_variant | MODIFIER | HG01168.hp1 HG01261.hp1 HG01981.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0005a0004c0011 | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(1): Show | a0001c0001t0001g0072a0001c0001t0001g0089a0001c0001t0001g0132others(5): Show | 8 | 212 | 0.0377 | -6 | c.347 others(23): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 29/39 | chr12 | TogoVar | ||||||
ABCC9_chr12_21792389_21946426 | 21915472 | GTATATA | G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(41): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0011 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0032a0001c0001t0001g0040others(40): Show | 44 | 212 | 0.2076 | -6 | c.816 others(21): Show |
ABCC9 | ENSG00000069431.14 | transcript | ENST00000261200.9 | protein_coding | 7/39 | chr12 | TogoVar | ||||||
ABCD2_chr12_39545033_39624803 | 39622554 | CCAGAGA | C | upstream_gene_variant | MODIFIER | HG00597.hp2 NA18974.hp1 NA19086.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272a0001c0001t0001g0274a0001c0001t0001g0277 | 3 | 340 | 0.0088 | -6 | c.-29 others(17): Show |
ABCD2 | ENSG00000173208.4 | transcript | ENST00000308666.4 | protein_coding | 2752 | chr12 | TogoVar | ||||||
ABCD3_chr1_94413389_94523663 | 94421562 | ATGTGTG | A | intron_variant | MODIFIER | HG02647.hp1 HG02886.hp1 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0018a0001c0001t0030 | a0001c0001t0003g0193a0001c0001t0003g0194a0001c0001t0018g0180others(1): Show | 4 | 362 | 0.0111 | -6 | c.110 others(23): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94438295 | CACACAT | C | intron_variant | MODIFIER | HG01884.hp2 HG01943.hp2 HG01975.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0263a0001c0002t0001g0097a0001c0002t0002g0121others(6): Show | 9 | 362 | 0.0249 | -6 | c.110 others(25): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94438301 | TACACAC | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00438.hp1 others(57): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0003g0006a0001c0001t0003g0008a0001c0001t0003g0244others(52): Show | 60 | 362 | 0.1658 | -6 | c.110 others(25): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD3_chr1_94413389_94523663 | 94456255 | ATTTTTT | A | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG00642.hp2 others(62): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0014others(61): Show | 65 | 362 | 0.1796 | -6 | c.111 others(23): Show |
ABCD3 | ENSG00000117528.14 | transcript | ENST00000370214.9 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ABCD4_chr14_74280269_74307934 | 74305330 | CAAAAAA | C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00323.hp2 others(90): Show |
a0002a0010a0011 | a0002c0002a0002c0012a0010c0014others(1): Show | a0002c0002t0001a0002c0002t0024a0002c0012t0001others(2): Show | a0002c0002t0001g0003a0002c0002t0001g0004a0002c0002t0001g0013others(47): Show | 93 | 384 | 0.2422 | -6 | c.-24 others(17): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 2397 | chr14 | TogoVar | ||||||
ABCD4_chr14_74280269_74307934 | 74306145 | CATATAT | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG01070.hp2 others(22): Show |
a0001a0002a0003 | a0001c0001a0001c0020a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(3): Show | a0001c0001t0001g0040a0001c0001t0002g0001a0001c0001t0002g0010others(17): Show | 25 | 384 | 0.0651 | -6 | c.-32 others(17): Show |
ABCD4 | ENSG00000119688.21 | transcript | ENST00000356924.9 | protein_coding | 3212 | chr14 | TogoVar | ||||||
ABCF1_chr6_30566442_30596522 | 30591547 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01175.hp2 HG01891.hp2 others(18): Show |
a0001a0002 | a0001c0002a0002c0007a0002c0013 | a0001c0002t0002a0002c0007t0002a0002c0013t0002 | a0001c0002t0002g0017a0001c0002t0002g0053a0001c0002t0002g0229others(14): Show | 21 | 415 | 0.0506 | -6 | c.*84 others(15): Show |
ABCF1 | ENSG00000204574.14 | transcript | ENST00000326195.13 | protein_coding | 26 | chr6 | TogoVar | ||||||
ABCF3_chr3_184181199_184199005 | 184197845 | TTGTGTG | T | downstream_gene_variant | MODIFIER | HG01261.hp2 HG02109.hp2 HG02486.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0003a0001c0001t0001g0004a0003c0004t0001g0008 | 7 | 416 | 0.0168 | -6 | c.*41 others(17): Show |
ABCF3 | ENSG00000161204.12 | transcript | ENST00000429586.7 | protein_coding | 3841 | chr3 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42219222 | CCCGCCG | C | 5_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00609.hp1 others(59): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(10): Show | a0001c0001t0005g0001a0001c0001t0005g0009a0001c0001t0005g0010others(58): Show | 62 | 354 | 0.1751 | -6 | c.-14 others(12): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 1/15 | 9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ABCG1_chr21_42214140_42302244 | 42243445 | CGCGTGT | C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG01255.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0165a0001c0001t0002g0162a0001c0001t0002g0164others(6): Show | 10 | 354 | 0.0283 | -6 | c.286 others(25): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42243447 | CGTGTGT | C | intron_variant | MODIFIER | HG00423.hp2 HG00741.hp2 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0184a0001c0001t0001g0185a0001c0001t0002g0237 | 3 | 354 | 0.0085 | -6 | c.286 others(25): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42243485 | TGTGTGC | T | intron_variant | MODIFIER | NA18964.hp2 NA18968.hp1 NA18977.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0231a0001c0001t0001g0260a0001c0001t0002g0173others(2): Show | 5 | 354 | 0.0141 | -6 | c.286 others(25): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG5_chr2_43807472_43843839 | 43808964 | TACACAC | T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(28): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0001g0094a0001c0001t0001g0193a0001c0001t0003g0010others(26): Show | 31 | 330 | 0.0939 | -6 | c.*41 others(17): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 3507 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43833363 | ATATTAT | A | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01978.hp2 others(15): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(4): Show | a0001c0001t0001g0042a0001c0001t0001g0121a0001c0001t0001g0122others(14): Show | 18 | 330 | 0.0546 | -6 | c.266 others(23): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43845096 | GTGTATA | G | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp2 HG02622.hp1 others(2): Show |
a0003 | a0003c0002a0003c0017 | a0003c0002t0029a0003c0002t0050a0003c0017t0015 | a0003c0002t0029g0150a0003c0002t0029g0151a0003c0002t0050g0149others(1): Show | 5 | 318 | 0.0157 | -6 | c.165 others(21): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43846990 | GCACACA | G | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01071.hp2 others(6): Show |
a0001a0003a0005 | a0001c0001a0003c0002a0003c0014others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0019others(5): Show | a0001c0001t0001g0115a0001c0001t0009g0114a0001c0001t0019g0051others(6): Show | 9 | 318 | 0.0283 | -6 | c.322 others(21): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50903110 | GTTTTTT | G | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp2 others(128): Show |
a0002a0005a0009others(1): Show | a0002c0002a0002c0004a0005c0008others(2): Show | a0002c0002t0002a0002c0002t0005a0002c0002t0006others(9): Show | a0002c0002t0002g0001a0002c0002t0002g0003a0002c0002t0002g0009others(120): Show | 131 | 376 | 0.3484 | -6 | c.864 others(21): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12_chr20_25295214_25395835 | 25350959 | TCACACA | T | intron_variant | MODIFIER | HG00099.hp1 HG00621.hp2 HG00735.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0010 | a0001c0001t0001g0011a0001c0001t0001g0018a0001c0001t0001g0025others(19): Show | 22 | 316 | 0.0696 | -6 | c.192 others(25): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25359423 | CAAAAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG01255.hp1 HG01496.hp1 others(50): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0002t0011a0001c0003t0002others(3): Show | a0001c0001t0004g0291a0001c0002t0011g0301a0001c0003t0002g0171others(50): Show | 53 | 316 | 0.1677 | -6 | c.192 others(25): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25390476 | GGCCCCC | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(109): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0006others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(5): Show | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142others(109): Show | 112 | 316 | 0.3544 | -6 | c.191 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD17A_chr19_1871810_1890496 | 1874746 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG02280.hp2 HG03209.hp2 NA18964.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0031others(1): Show | 6 | 416 | 0.0144 | -6 | c.*24 others(17): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 2063 | chr19 | TogoVar | ||||||
ABHD17B_chr9_71860152_71916193 | 71862698 | TCTTAAG | T | downstream_gene_variant | MODIFIER | HG02559.hp2 HG02897.hp1 HG03195.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0094a0001c0001t0001g0124a0001c0002t0001g0095 | 3 | 186 | 0.0161 | -6 | c.*40 others(17): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 2453 | chr9 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80695065 | TGGCGGC | T | upstream_gene_variant | MODIFIER | HG01256.hp1 HG01361.hp2 HG01884.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187a0001c0001t0001g0192a0001c0001t0001g0206others(1): Show | 4 | 360 | 0.0111 | -6 | c.-36 others(15): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 244 | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80713900 | CCACACA | C | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00609.hp2 others(67): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0012others(60): Show | 70 | 360 | 0.1944 | -6 | c.590 others(25): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD17C_chr15_80690310_80760621 | 80723136 | ATATGTG | A | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00733.hp2 others(54): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0122a0001c0001t0001g0123a0001c0001t0001g0124others(53): Show | 57 | 360 | 0.1583 | -6 | c.591 others(25): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 127966702 | CAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00621.hp2 others(23): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0002a0001c0001t0088a0001c0001t0090others(10): Show | a0001c0001t0002g0204a0001c0001t0002g0205a0001c0001t0002g0206others(23): Show | 26 | 344 | 0.0756 | -6 | c.-18 others(23): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 128039144 | CATATAT | C | 3_prime_UTR_variant | MODIFIER | HG00735.hp1 HG00741.hp2 HG01070.hp1 others(38): Show |
a0001a0003 | a0001c0001a0001c0005a0003c0003 | a0001c0001t0004a0001c0001t0011a0001c0001t0022others(10): Show | a0001c0001t0004g0131a0001c0001t0004g0132a0001c0001t0004g0152others(38): Show | 41 | 344 | 0.1192 | -6 | c.*33 others(17): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 13/13 | 3367 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
ABHD1_chr2_27118815_27135812 | 27127236 | CTTTTTT | C | intron_variant | MODIFIER | HG00738.hp1 HG02922.hp1 HG02970.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0012a0002c0002t0001g0039a0002c0002t0001g0120 | 6 | 400 | 0.0150 | -6 | c.115 others(23): Show |
ABHD1 | ENSG00000143994.14 | transcript | ENST00000316470.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89115370 | ATGTGTG | A | intron_variant | MODIFIER | HG00544.hp1 HG01884.hp1 HG02055.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0095a0001c0001t0003g0135a0001c0001t0004g0083others(4): Show | 7 | 234 | 0.0299 | -6 | c.-6- others(19): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89127716 | TATACAC | T | intron_variant | MODIFIER | HG01106.hp1 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0019 | 2 | 234 | 0.0086 | -6 | c.194 others(25): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89146355 | CGTGTGT | C | intron_variant | MODIFIER | HG00438.hp2 HG01243.hp2 HG01517.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(8): Show | a0001c0001t0001g0006a0001c0001t0001g0052a0001c0001t0001g0084others(28): Show | 31 | 234 | 0.1325 | -6 | c.195 others(23): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89149214 | AACACAC | A | intron_variant | MODIFIER | HG01256.hp2 HG02273.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0026 | a0001c0001t0002g0214a0001c0001t0026g0070 | 2 | 234 | 0.0086 | -6 | c.195 others(23): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD2_chr15_89083456_89207355 | 89205128 | TTCTCTC | T | downstream_gene_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01361.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0085a0001c0001t0001g0086a0001c0001t0001g0184others(9): Show | 12 | 234 | 0.0513 | -6 | c.*97 others(17): Show |
ABHD2 | ENSG00000140526.18 | transcript | ENST00000352732.10 | protein_coding | 2774 | chr15 | TogoVar | ||||||
ABHD4_chr14_22593300_22617963 | 22600829 | GGGGTGT | G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(81): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0005a0001c0001t0001g0021a0001c0001t0001g0045others(33): Show | 84 | 424 | 0.1981 | -6 | c.24- others(19): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD4_chr14_22593300_22617963 | 22615656 | CTTTAAG | C | downstream_gene_variant | MODIFIER | HG03579.hp1 NA18522.hp2 NA19030.hp2 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0011a0001c0002t0006g0044a0001c0002t0006g0131 | 3 | 424 | 0.0071 | -6 | c.*47 others(17): Show |
ABHD4 | ENSG00000100439.11 | transcript | ENST00000428304.7 | protein_coding | 2694 | chr14 | TogoVar | ||||||
ABHD5_chr3_43685938_43727725 | 43702875 | TTTATTA | T | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01070.hp2 others(74): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0003a0001c0001t0008a0001c0001t0011others(15): Show | a0001c0001t0003g0001a0001c0001t0003g0005a0001c0001t0003g0011others(52): Show | 77 | 286 | 0.2692 | -6 | c.506 others(21): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD5_chr3_43685938_43727725 | 43710047 | CAAATAA | C | intron_variant | MODIFIER | HG00621.hp1 HG02074.hp2 HG02080.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0013 | a0001c0001t0001g0013a0001c0001t0001g0015a0001c0001t0001g0058others(6): Show | 11 | 286 | 0.0385 | -6 | c.507 others(23): Show |
ABHD5 | ENSG00000011198.10 | transcript | ENST00000644371.2 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58254851 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp1 HG01099.hp2 HG01106.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0019others(32): Show | 37 | 302 | 0.1225 | -6 | c.-25 others(23): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58256104 | CACACAT | C | intron_variant | MODIFIER | HG02015.hp2 HG02074.hp2 NA18747.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0139a0001c0001t0002g0140a0001c0001t0002g0141others(3): Show | 6 | 302 | 0.0199 | -6 | c.-25 others(21): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58264387 | GCACACA | G | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00558.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0235a0001c0001t0001g0251a0001c0001t0002g0015others(17): Show | 20 | 302 | 0.0662 | -6 | c.120 others(23): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD6_chr3_58232792_58299734 | 58291392 | GGGGAGA | G | intron_variant | MODIFIER | HG02486.hp2 HG02886.hp1 HG03453.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0154a0001c0001t0001g0185others(2): Show | 5 | 302 | 0.0166 | -6 | c.838 others(23): Show |
ABHD6 | ENSG00000163686.15 | transcript | ENST00000478253.6 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ABHD8_chr19_17287131_17308425 | 17289411 | AAATAAT | A | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01256.hp2 HG01261.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0014others(9): Show | 13 | 386 | 0.0337 | -6 | c.*32 others(17): Show |
ABHD8 | ENSG00000127220.6 | transcript | ENST00000247706.4 | protein_coding | 2719 | chr19 | TogoVar | ||||||
ABI1_chr10_26741596_26865958 | 26761617 | CATATAT | C | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG02080.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0002g0025a0001c0001t0002g0151a0001c0001t0002g0179others(9): Show | 12 | 358 | 0.0335 | -6 | c.821 others(23): Show |
ABI1 | ENSG00000136754.18 | transcript | ENST00000376140.4 | protein_coding | 7/10 | chr10 | TogoVar |