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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCG1_chr21_42214140_42302244 | 42248902 | C | CAAA | intron_variant | MODIFIER | HG00544.hp1 HG00639.hp2 HG01106.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0002g0230a0001c0001t0002g0286a0001c0001t0002g0288others(7): Show | 10 | 354 | 0.0283 | 3 | c.287 others(22): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42251543 | T | TGAG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(169): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0082a0001c0001t0001g0083a0001c0001t0001g0096others(165): Show | 172 | 354 | 0.4859 | 3 | c.287 others(22): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42270259 | C | CAAA | intron_variant | MODIFIER | HG01070.hp1 HG01975.hp2 HG02040.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0156a0001c0001t0001g0206a0001c0001t0002g0221others(4): Show | 7 | 354 | 0.0198 | 3 | c.287 others(18): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42274475 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00642.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0243a0001c0001t0001g0317a0001c0001t0001g0336others(31): Show | 34 | 354 | 0.0961 | 3 | c.537 others(20): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42283957 | T | TACC | intron_variant | MODIFIER | HG02258.hp2 HG02451.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0097a0001c0001t0002g0222a0001c0001t0004g0268others(1): Show | 4 | 354 | 0.0113 | 3 | c.735 others(18): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 6/14 | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42284018 | T | TACC | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 HG02717.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004 | a0001c0001t0002g0222a0001c0001t0003g0234a0001c0001t0003g0310others(1): Show | 4 | 354 | 0.0113 | 3 | c.735 others(18): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 6/14 | chr21 | TogoVar | ||||||
ABCG1_chr21_42214140_42302244 | 42293216 | C | CACA | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 HG01167.hp2 others(52): Show |
a0001 | a0001c0001a0001c0002a0001c0006others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0155a0001c0001t0002g0090a0001c0001t0002g0095others(50): Show | 55 | 354 | 0.1554 | 3 | c.165 others(22): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ABCG1_chr21_42214140_42302244 | 42296624 | G | GTTT | 3_prime_UTR_variant | MODIFIER | HG00642.hp1 HG01123.hp1 HG01123.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0021a0001c0001t0026 | a0001c0001t0010g0144a0001c0001t0010g0167a0001c0001t0010g0292others(5): Show | 8 | 354 | 0.0226 | 3 | c.*24 others(12): Show |
ABCG1 | ENSG00000160179.19 | transcript | ENST00000398449.8 | protein_coding | 15/15 | 246 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||
ABCG2_chr4_88085269_88163639 | 88085879 | T | TCTG | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp2 others(186): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0007a0001c0001t0001g0015a0001c0001t0001g0019others(183): Show | 189 | 350 | 0.5400 | 3 | c.*63 others(14): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 4389 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88119616 | G | GTTT | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00738.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0021others(15): Show | 18 | 350 | 0.0514 | 3 | c.690 others(20): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 6/15 | chr4 | TogoVar | ||||||
ABCG2_chr4_88085269_88163639 | 88156370 | C | CAAA | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00423.hp1 others(159): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(14): Show | a0001c0001t0001g0003a0001c0001t0001g0164a0001c0001t0001g0165others(155): Show | 162 | 350 | 0.4629 | 3 | c.-20 others(20): Show |
ABCG2 | ENSG00000118777.12 | transcript | ENST00000237612.8 | protein_coding | 1/15 | chr4 | TogoVar | ||||||
ABCG4_chr11_119144052_119167653 | 119147517 | G | GGAA | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00597.hp2 HG00621.hp1 others(25): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0018a0001c0001t0001g0024others(5): Show | 28 | 388 | 0.0722 | 3 | c.-18 others(14): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 1534 | chr11 | TogoVar | ||||||
ABCG4_chr11_119144052_119167653 | 119158220 | T | TTTC | splice_region_variant others(1): Show |
LOW | HG01099.hp1 HG01123.hp2 HG01243.hp1 others(33): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0089a0001c0001t0002g0011a0001c0001t0006g0033others(16): Show | 36 | 388 | 0.0928 | 3 | c.106 others(16): Show |
ABCG4 | ENSG00000172350.10 | transcript | ENST00000619701.5 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ABCG5_chr2_43807472_43843839 | 43813709 | G | GTTT | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp2 HG01884.hp1 others(16): Show |
a0002a0005a0008 | a0002c0002a0002c0009a0005c0005others(1): Show | a0002c0002t0002a0002c0002t0008a0002c0009t0002others(3): Show | a0002c0002t0002g0024a0002c0002t0002g0043a0002c0002t0002g0056others(15): Show | 19 | 330 | 0.0576 | 3 | c.176 others(20): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 12/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43815910 | G | GAAA | intron_variant | MODIFIER | HG00738.hp1 HG01261.hp2 HG01978.hp2 others(13): Show |
a0001a0004a0008others(1): Show | a0001c0001a0001c0010a0004c0004others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0010t0004others(3): Show | a0001c0001t0003g0129a0001c0001t0004g0019a0001c0001t0004g0060others(12): Show | 16 | 330 | 0.0485 | 3 | c.165 others(22): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 11/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43822476 | A | AGCC | intron_variant | MODIFIER | HG01175.hp1 HG01175.hp2 HG01516.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0009others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0002others(2): Show | a0001c0001t0001g0047a0001c0001t0001g0063a0001c0001t0001g0086others(10): Show | 13 | 330 | 0.0394 | 3 | c.146 others(20): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 10/12 | chr2 | TogoVar | ||||||
ABCG5_chr2_43807472_43843839 | 43833363 | A | ATAT | intron_variant | MODIFIER | HG00323.hp1 HG00673.hp2 HG00733.hp2 others(38): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0002c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0012a0001c0001t0001g0013a0001c0001t0001g0063others(35): Show | 41 | 330 | 0.1242 | 3 | c.266 others(20): Show |
ABCG5 | ENSG00000138075.14 | transcript | ENST00000405322.8 | protein_coding | 2/12 | chr2 | TogoVar | ||||||
ABCG8_chr2_43833971_43887988 | 43845119 | T | TATA | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG01168.hp1 others(7): Show |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0015a0001c0001t0019a0001c0001t0037others(4): Show | a0001c0001t0015g0057a0001c0001t0019g0066a0001c0001t0037g0056others(7): Show | 10 | 318 | 0.0315 | 3 | c.165 others(18): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43849021 | T | TAAA | intron_variant | MODIFIER | HG01346.hp2 HG02109.hp2 HG02486.hp1 others(9): Show |
a0003a0007a0009 | a0003c0002a0007c0009a0007c0020others(1): Show | a0003c0002t0028a0007c0009t0024a0007c0009t0030others(4): Show | a0003c0002t0028g0041a0007c0009t0024g0005a0007c0009t0024g0032others(8): Show | 12 | 318 | 0.0377 | 3 | c.323 others(20): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABCG8_chr2_43833971_43887988 | 43874510 | G | GCCC | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00642.hp1 others(35): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0008a0002c0003others(8): Show | a0001c0001t0004a0001c0001t0035a0001c0001t0073others(20): Show | a0001c0001t0004g0008a0001c0001t0004g0080a0001c0001t0004g0083others(34): Show | 38 | 318 | 0.1195 | 3 | c.148 others(18): Show |
ABCG8 | ENSG00000143921.9 | transcript | ENST00000272286.4 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50877866 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(228): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(16): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0007others(215): Show | 231 | 376 | 0.6144 | 3 | c.105 others(16): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50881563 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG01175.hp1 others(7): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0008 | a0001c0001t0001a0002c0002t0002a0005c0008t0002 | a0001c0001t0001g0061a0001c0001t0001g0086a0001c0001t0001g0158others(7): Show | 10 | 376 | 0.0266 | 3 | c.456 others(16): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50882373 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(192): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0006others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(17): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0011others(182): Show | 195 | 376 | 0.5186 | 3 | c.486 others(18): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50882973 | C | CAAA | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00423.hp2 others(42): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0005a0001c0006others(6): Show | a0001c0001t0001a0001c0005t0004a0001c0006t0001others(12): Show | a0001c0001t0001g0025a0001c0001t0001g0032a0001c0005t0004g0347others(40): Show | 45 | 376 | 0.1197 | 3 | c.486 others(20): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ABHD12B_chr14_50867053_50909970 | 50908020 | C | CAAA | downstream_gene_variant | MODIFIER | HG02056.hp2 HG02735.hp2 HG03471.hp1 others(5): Show |
a0001a0002 | a0001c0005a0001c0011a0002c0002others(1): Show | a0001c0005t0004a0001c0005t0008a0001c0011t0004others(2): Show | a0001c0005t0004g0026a0001c0005t0008g0212a0001c0011t0004g0088others(4): Show | 8 | 376 | 0.0213 | 3 | c.*36 others(14): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3051 | chr14 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25359423 | C | CAAA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00597.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0040a0001c0001t0001g0041others(16): Show | 19 | 316 | 0.0601 | 3 | c.192 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25360227 | C | CTTT | intron_variant | MODIFIER | HG00741.hp1 HG01884.hp2 HG01891.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0011a0001c0003t0002others(1): Show | a0001c0001t0001g0043a0001c0002t0011g0301a0001c0003t0002g0228others(9): Show | 12 | 316 | 0.0380 | 3 | c.192 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25369927 | T | TAAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(65): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0006 | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(2): Show | a0001c0002t0002g0147a0001c0002t0002g0148a0001c0002t0002g0149others(65): Show | 68 | 316 | 0.2152 | 3 | c.191 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25375697 | T | TAAA | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0004 | a0001c0001t0004g0267a0001c0001t0004g0291a0001c0005t0004g0293others(1): Show | 4 | 316 | 0.0127 | 3 | c.191 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25376125 | A | AAAT | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp1 HG02809.hp1 others(2): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0001t0008a0001c0005t0004 | a0001c0001t0004g0267a0001c0001t0004g0291a0001c0001t0008g0002others(2): Show | 5 | 316 | 0.0158 | 3 | c.191 others(22): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25386105 | A | AAAT | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0001a0001c0001t0005g0309a0001c0001t0005g0310others(5): Show | 9 | 316 | 0.0285 | 3 | c.191 others(20): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25388787 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(66): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0006others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0007others(3): Show | a0001c0002t0002g0140a0001c0002t0002g0141a0001c0002t0002g0142others(66): Show | 69 | 316 | 0.2184 | 3 | c.191 others(20): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25390476 | G | GCCC | intron_variant | MODIFIER | HG01069.hp1 HG01496.hp2 HG02083.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0109a0001c0001t0001g0110a0001c0001t0001g0111others(12): Show | 15 | 316 | 0.0475 | 3 | c.191 others(16): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | ||||||
ABHD12_chr20_25295214_25395835 | 25393470 | C | CAAA | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01891.hp2 HG02572.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0008a0001c0002t0002others(2): Show | a0001c0001t0004g0266a0001c0001t0004g0276a0001c0001t0004g0281others(9): Show | 12 | 316 | 0.0380 | 3 | c.-27 others(14): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2636 | chr20 | TogoVar | ||||||
ABHD13_chr13_108213392_108239243 | 108218129 | A | ATAG | upstream_gene_variant | MODIFIER | NA18950.hp1 NA18950.hp2 NA18953.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0009 | 3 | 390 | 0.0077 | 3 | c.-55 others(12): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 262 | chr13 | TogoVar | ||||||
ABHD13_chr13_108213392_108239243 | 108227422 | A | ATTG | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00609.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0014others(6): Show | a0001c0001t0004g0006a0001c0001t0004g0011a0001c0001t0004g0038others(11): Show | 35 | 390 | 0.0897 | 3 | c.-20 others(20): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ABHD13_chr13_108213392_108239243 | 108231862 | G | GAAT | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00408.hp1 others(87): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(15): Show | a0001c0001t0002g0003a0001c0001t0002g0021a0001c0001t0002g0089others(26): Show | 90 | 390 | 0.2308 | 3 | c.*16 others(14): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2/2 | 1634 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||
ABHD13_chr13_108213392_108239243 | 108236682 | A | ATTT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00544.hp2 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0009others(20): Show | 55 | 390 | 0.1410 | 3 | c.*64 others(14): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2440 | chr13 | TogoVar | ||||||
ABHD14A_chr3_51970064_51986196 | 51981894 | C | CAAA | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01358.hp2 HG01934.hp1 others(23): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0026others(1): Show | 26 | 344 | 0.0756 | 3 | c.*87 others(12): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 699 | chr3 | TogoVar | ||||||
ABHD14B_chr3_51963515_51979049 | 51968618 | T | TGAG | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG01884.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0010 | a0001c0001t0002g0005a0001c0001t0002g0011a0001c0001t0002g0018others(8): Show | 30 | 324 | 0.0926 | 3 | c.*80 others(12): Show |
ABHD14B | ENSG00000114779.20 | transcript | ENST00000361143.10 | protein_coding | 4/4 | 807 | chr3 | TogoVar | |||||
ABHD16A_chr6_31681955_31708324 | 31699408 | C | CAAA | intron_variant | MODIFIER | HG01952.hp1 HG02071.hp2 HG02486.hp1 others(5): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0002 | a0001c0001t0001g0035a0001c0001t0001g0149a0001c0001t0002g0117others(2): Show | 8 | 417 | 0.0192 | 3 | c.343 others(20): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 4/19 | chr6 | TogoVar | ||||||
ABHD16A_chr6_31681955_31708324 | 31704725 | G | GTTT | upstream_gene_variant | MODIFIER | HG02027.hp2 HG02109.hp2 HG02148.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0008 | a0001c0001t0002a0001c0003t0002a0004c0008t0002 | a0001c0001t0002g0030a0001c0001t0002g0077a0001c0001t0002g0159others(4): Show | 8 | 417 | 0.0192 | 3 | c.-14 others(14): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 1402 | chr6 | TogoVar | ||||||
ABHD16B_chr20_63856498_63867988 | 63863057 | C | CGGG | downstream_gene_variant | MODIFIER | HG00597.hp2 HG00621.hp1 HG00735.hp2 others(26): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0005a0002c0002others(5): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0001others(5): Show | a0001c0001t0001g0000a0001c0005t0001g0000a0002c0002t0001g0000others(5): Show | 29 | 398 | 0.0729 | 3 | c.*10 others(12): Show |
ABHD16B | ENSG00000183260.7 | transcript | ENST00000369916.5 | protein_coding | 70 | chr20 | TogoVar | ||||||
ABHD17B_chr9_71860152_71916193 | 71864213 | C | CTTT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG01496.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0014others(8): Show | 11 | 186 | 0.0591 | 3 | c.*25 others(14): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 938 | chr9 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80691370 | C | CAAT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(280): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0012others(265): Show | 283 | 360 | 0.7861 | 3 | c.-40 others(14): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 3939 | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80695065 | T | TGGC | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00558.hp1 others(101): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0012others(93): Show | 104 | 360 | 0.2889 | 3 | c.-36 others(12): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 244 | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80717271 | A | AAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(334): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0012others(317): Show | 337 | 360 | 0.9361 | 3 | c.590 others(22): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80725489 | C | CATT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00642.hp2 others(62): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0168a0001c0001t0001g0170a0001c0001t0001g0174others(60): Show | 65 | 360 | 0.1806 | 3 | c.591 others(22): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 127973817 | C | CAAA | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00597.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0008a0001c0001t0015a0002c0002t0001others(6): Show | a0001c0001t0008g0068a0001c0001t0015g0027a0002c0002t0001g0270others(16): Show | 19 | 344 | 0.0552 | 3 | c.-18 others(20): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ABHD18_chr4_127960406_128044953 | 127975029 | A | ACTT | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp2 HG02257.hp1 others(13): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0022a0001c0001t0035a0001c0001t0036others(7): Show | a0001c0001t0022g0337a0001c0001t0022g0339a0001c0001t0022g0340others(13): Show | 16 | 344 | 0.0465 | 3 | c.-17 others(20): Show |
ABHD18 | ENSG00000164074.17 | transcript | ENST00000645843.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |