view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD12B_chr14_50867053_50909970 | 50870995 | A | AAG | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01261.hp2 others(10): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0001c0013others(3): Show | a0001c0001t0001a0001c0006t0001a0001c0013t0003others(4): Show | a0001c0001t0001g0011 a0001c0001t0001g0030 a0001c0006t0001g0241 others(9): Show |
13 | 369 | 0.0352 | 2 | c.-11 others(13): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1057 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50870999 | A | AAG | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02896.hp2 HG02976.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0004 | a0001c0001t0001a0001c0006t0001a0002c0004t0006 | a0001c0001t0001g0233 a0001c0006t0001g0128 a0001c0006t0001g0176 others(1): Show |
4 | 373 | 0.0107 | 2 | c.-11 others(13): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1053 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50873222 | C | CTT | intron_variant | MODIFIER | HG00597.hp1 HG01943.hp1 HG01975.hp1 others(32): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0014a0001c0005t0004others(3): Show | a0001c0001t0001g0021 a0001c0001t0001g0316 a0001c0001t0001g0322 others(31): Show |
35 | 360 | 0.0972 | 2 | c.104 others(17): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50874599 | C | CAA | intron_variant | MODIFIER | HG01070.hp1 HG01074.hp1 HG01106.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0004t0002others(1): Show | a0001c0001t0001g0120 a0001c0001t0001g0123 a0001c0001t0001g0316 others(4): Show |
7 | 287 | 0.0244 | 2 | c.104 others(19): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50877866 | C | CAA | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(130): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0004others(21): Show | a0001c0001t0001g0011 a0001c0001t0001g0025 a0001c0001t0001g0032 others(122): Show |
133 | 135 | 0.9852 | 2 | c.105 others(15): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50881563 | C | CTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(296): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(277): Show |
299 | 311 | 0.9614 | 2 | c.456 others(15): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50882373 | C | CTT | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00544.hp2 others(71): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0005t0004a0001c0006t0001others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0013 a0001c0001t0001g0016 others(65): Show |
74 | 80 | 0.9250 | 2 | c.486 others(17): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50883951 | C | CTA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(354): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0001c0006others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(32): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(333): Show |
357 | 374 | 0.9545 | 2 | c.487 others(19): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50908020 | C | CAA | downstream_gene_variant | MODIFIER | HG01261.hp2 HG01891.hp1 HG02145.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0004a0002c0002t0002a0002c0002t0005others(2): Show | a0001c0001t0004g0318 a0002c0002t0002g0044 a0002c0002t0002g0083 others(6): Show |
9 | 68 | 0.1324 | 2 | c.*36 others(13): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3051 | chr14 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25299090 | C | CTG | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(259): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(13): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(255): Show |
262 | 314 | 0.8344 | 2 | c.*17 others(13): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1123 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25342103 | C | CAA | intron_variant | MODIFIER | HG01167.hp2 HG01891.hp1 HG02145.hp1 others(12): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0004a0001c0001t0008a0001c0004t0004 | a0001c0001t0004g0229 a0001c0001t0004g0233 a0001c0001t0004g0234 others(12): Show |
15 | 72 | 0.2083 | 2 | c.192 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25350959 | T | TCA | intron_variant | MODIFIER | HG01496.hp2 HG01943.hp1 HG02083.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0034 a0001c0001t0001g0038 a0001c0001t0001g0048 others(4): Show |
7 | 37 | 0.1892 | 2 | c.192 others(21): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25359423 | C | CAA | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp2 HG01069.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0039 a0001c0001t0001g0041 others(42): Show |
45 | 182 | 0.2473 | 2 | c.192 others(21): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25360227 | C | CTT | intron_variant | MODIFIER | HG01361.hp1 HG02723.hp1 HG02895.hp2 others(11): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0003t0002others(2): Show | a0001c0001t0001g0053 a0001c0001t0004g0238 a0001c0003t0002g0003 others(10): Show |
14 | 83 | 0.1687 | 2 | c.192 others(21): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25370849 | C | CTT | intron_variant | MODIFIER | HG01167.hp2 HG01361.hp1 HG01891.hp1 others(18): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0039 a0001c0001t0001g0116 a0001c0001t0001g0135 others(18): Show |
21 | 234 | 0.0897 | 2 | c.191 others(21): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25381626 | C | CTT | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0002t0010a0001c0003t0010others(1): Show | a0001c0001t0004g0239 a0001c0001t0004g0291 a0001c0002t0010g0298 others(3): Show |
6 | 146 | 0.0411 | 2 | c.191 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25383954 | C | CAA | intron_variant | MODIFIER | HG01081.hp2 HG01175.hp2 HG01256.hp1 others(7): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(1): Show | a0001c0002t0002g0151 a0001c0002t0002g0152 a0001c0002t0002g0153 others(7): Show |
10 | 209 | 0.0478 | 2 | c.191 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25383968 | A | AAG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(31): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 others(31): Show |
34 | 313 | 0.1086 | 2 | c.191 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25384402 | T | TAC | intron_variant | MODIFIER | HG01071.hp1 HG01256.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0121 a0001c0001t0001g0122 |
3 | 314 | 0.0096 | 2 | c.191 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25388038 | C | CAA | intron_variant | MODIFIER | HG00544.hp1 HG02055.hp2 HG02109.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0003t0002a0001c0003t0010 | a0001c0001t0004g0286 a0001c0001t0004g0291 a0001c0003t0002g0244 others(12): Show |
15 | 245 | 0.0612 | 2 | c.191 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25388789 | T | TTC | intron_variant | MODIFIER | HG00544.hp1 HG01109.hp1 HG01255.hp1 others(44): Show |
a0001a0005 | a0001c0003a0005c0008 | a0001c0003t0002a0005c0008t0002 | a0001c0003t0002g0002 a0001c0003t0002g0003 a0001c0003t0002g0240 others(42): Show |
47 | 314 | 0.1497 | 2 | c.191 others(19): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25390476 | G | GCC | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00438.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0032 a0001c0001t0001g0035 a0001c0001t0001g0038 others(49): Show |
53 | 92 | 0.5761 | 2 | c.191 others(15): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25391727 | C | CTT | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00741.hp1 HG00741.hp2 others(20): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0077 a0001c0001t0001g0081 a0001c0001t0001g0091 others(20): Show |
23 | 85 | 0.2706 | 2 | c.-10 others(13): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 893 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25393470 | C | CAA | upstream_gene_variant | MODIFIER | HG01109.hp2 HG01192.hp1 HG01934.hp1 others(23): Show |
a0001a0005 | a0001c0001a0001c0004a0005c0008 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(3): Show | a0001c0001t0001g0075 a0001c0001t0001g0084 a0001c0001t0001g0105 others(22): Show |
26 | 70 | 0.3714 | 2 | c.-27 others(13): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2636 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25394237 | C | CAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(138): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0006others(2): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(6): Show | a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 others(135): Show |
141 | 314 | 0.4490 | 2 | c.-35 others(13): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 3403 | chr20 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108215416 | C | CCA | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01952.hp1 HG02145.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0030 others(3): Show |
7 | 385 | 0.0182 | 2 | c.-32 others(13): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2975 | chr13 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108230401 | C | CTG | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00609.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010a0001c0001t0014others(6): Show | a0001c0001t0004g0006 a0001c0001t0004g0011 a0001c0001t0004g0037 others(11): Show |
35 | 388 | 0.0902 | 2 | c.*17 others(11): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2/2 | 171 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ABHD13_chr13_108213392_108239243 | 108233714 | T | TAC | 3_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG00738.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0036 | a0001c0001t0002g0003 a0001c0001t0002g0020 a0001c0001t0002g0087 others(2): Show |
35 | 388 | 0.0902 | 2 | c.*34 others(13): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2/2 | 3490 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ABHD13_chr13_108213392_108239243 | 108236682 | A | ATT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00609.hp1 others(30): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(18): Show |
33 | 206 | 0.1602 | 2 | c.*64 others(13): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2440 | chr13 | TogoVar | |||||||
ABHD14A_chr3_51970064_51986196 | 51981894 | C | CAA | downstream_gene_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG01167.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002 | a0001c0001t0001a0001c0005t0001a0002c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0005t0001g0002 others(3): Show |
20 | 67 | 0.2985 | 2 | c.*87 others(11): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 699 | chr3 | TogoVar | |||||||
ABHD15_chr17_29555547_29572037 | 29558399 | C | CTT | downstream_gene_variant | MODIFIER | HG02074.hp2 HG02080.hp2 HG02572.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(5): Show |
8 | 307 | 0.0261 | 2 | c.*41 others(13): Show |
ABHD15 | ENSG00000168792.5 | transcript | ENST00000307201.5 | protein_coding | 2147 | chr17 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31682781 | C | CAA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01069.hp1 others(22): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0035 a0001c0001t0002g0003 others(12): Show |
25 | 185 | 0.1351 | 2 | c.*44 others(13): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 4173 | chr6 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31698509 | C | CAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(400): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(153): Show |
403 | 416 | 0.9688 | 2 | c.344 others(19): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 4/19 | chr6 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31699408 | C | CAA | intron_variant | MODIFIER | HG01361.hp2 HG01891.hp2 HG02148.hp1 others(28): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0003t0002a0001c0004t0002 | a0001c0001t0002g0019 a0001c0001t0002g0030 a0001c0001t0002g0031 others(11): Show |
31 | 333 | 0.0931 | 2 | c.343 others(19): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 4/19 | chr6 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31704725 | G | GTT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00597.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0003t0002 | a0001c0001t0002g0010 a0001c0001t0002g0019 a0001c0001t0002g0029 others(18): Show |
41 | 229 | 0.1790 | 2 | c.-14 others(13): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 1402 | chr6 | TogoVar | |||||||
ABHD17A_chr19_1871810_1890496 | 1874746 | C | CAA | downstream_gene_variant | MODIFIER | HG01891.hp2 HG01928.hp2 HG01943.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0046 others(1): Show |
10 | 69 | 0.1449 | 2 | c.*24 others(13): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 2063 | chr19 | TogoVar | |||||||
ABHD17A_chr19_1871810_1890496 | 1879506 | C | CCT | intron_variant | MODIFIER | HG02280.hp1 HG02896.hp1 HG03139.hp2 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0009 | 5 | 414 | 0.0121 | 2 | c.527 others(17): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
ABHD17A_chr19_1871810_1890496 | 1886951 | C | CAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(128): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(25): Show |
131 | 260 | 0.5038 | 2 | c.-18 others(13): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 1456 | chr19 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71861093 | A | ACT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(180): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(149): Show |
183 | 184 | 0.9946 | 2 | c.*56 others(13): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 4058 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71864213 | C | CTT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(121): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(99): Show |
124 | 139 | 0.8921 | 2 | c.*25 others(13): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 938 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71868052 | C | CAA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(38): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0027 others(33): Show |
41 | 50 | 0.8200 | 2 | c.648 others(19): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71874177 | A | ATT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00733.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0012 a0001c0001t0001g0027 others(24): Show |
30 | 156 | 0.1923 | 2 | c.467 others(17): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 2/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71885460 | C | CAA | intron_variant | MODIFIER | HG01071.hp1 HG01243.hp1 HG01256.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009a0001c0001t0010 | a0001c0001t0001g0031 a0001c0001t0001g0106 a0001c0001t0001g0107 others(4): Show |
7 | 28 | 0.2500 | 2 | c.-3- others(19): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71896681 | A | AAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(153): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(127): Show |
156 | 174 | 0.8966 | 2 | c.-4+ others(19): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71897320 | T | TAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(168): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(139): Show |
171 | 184 | 0.9293 | 2 | c.-4+ others(19): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71906819 | C | CAA | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp2 HG02257.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012 | a0001c0001t0001g0051 a0001c0001t0002g0019 a0001c0001t0002g0020 others(5): Show |
8 | 14 | 0.5714 | 2 | c.-4+ others(17): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 1/3 | chr9 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80693580 | T | TAA | upstream_gene_variant | MODIFIER | HG00738.hp1 HG01099.hp2 HG01106.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0193 a0001c0001t0001g0220 a0001c0001t0002g0001 others(22): Show |
25 | 342 | 0.0731 | 2 | c.-18 others(13): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1729 | chr15 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80693581 | T | TAA | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00735.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(1): Show | a0001c0001t0001g0173 a0001c0001t0001g0183 a0001c0001t0001g0185 others(35): Show |
38 | 211 | 0.1801 | 2 | c.-18 others(13): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1728 | chr15 | TogoVar | |||||||
ABHD17C_chr15_80690310_80760621 | 80698061 | C | CTT | intron_variant | MODIFIER | HG00438.hp2 HG01934.hp2 HG01952.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 a0001c0001t0001g0280 a0001c0001t0001g0281 others(17): Show |
21 | 58 | 0.3621 | 2 | c.590 others(19): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
ABHD17C_chr15_80690310_80760621 | 80713354 | C | CTT | intron_variant | MODIFIER | HG01255.hp2 HG01496.hp1 HG02258.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0118 others(15): Show |
19 | 62 | 0.3065 | 2 | c.590 others(21): Show |
ABHD17C | ENSG00000136379.12 | transcript | ENST00000258884.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |