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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABHD12_chr20_25295214_25395835 | 25392344 | T | TA | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02129.hp2 HG02280.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0056 a0001c0001t0001g0063 a0001c0001t0005g0004 others(6): Show |
10 | 35 | 0.2857 | 1 | c.-16 others(6): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1510 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25393092 | T | TA | upstream_gene_variant | MODIFIER | HG01261.hp2 HG01884.hp1 HG02027.hp2 others(3): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0003t0002others(1): Show | a0001c0001t0001g0078 a0001c0001t0001g0124 a0001c0002t0002g0177 others(3): Show |
6 | 311 | 0.0193 | 1 | c.-23 others(6): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2258 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25393135 | T | TA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(86): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0006others(1): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0006others(5): Show | a0001c0002t0002g0143 a0001c0002t0002g0144 a0001c0002t0002g0145 others(85): Show |
89 | 312 | 0.2853 | 1 | c.-24 others(6): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2301 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25393470 | C | CA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(89): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(89): Show |
92 | 136 | 0.6765 | 1 | c.-27 others(6): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2636 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25393480 | A | AG | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02717.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0236 a0001c0001t0004g0237 a0001c0001t0004g0284 others(2): Show |
5 | 314 | 0.0159 | 1 | c.-27 others(12): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2646 | chr20 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108215410 | A | AC | upstream_gene_variant | MODIFIER | HG00621.hp2 HG00735.hp2 HG01070.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0054 others(10): Show |
17 | 388 | 0.0438 | 1 | c.-32 others(12): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2981 | chr13 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108215416 | C | CA | upstream_gene_variant | MODIFIER | HG02273.hp2 HG02293.hp2 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0036 | a0001c0001t0002g0003 a0001c0001t0036g0003 |
3 | 381 | 0.0079 | 1 | c.-32 others(12): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2975 | chr13 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108215417 | A | AC | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00438.hp1 others(124): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(46): Show |
127 | 376 | 0.3378 | 1 | c.-32 others(12): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2974 | chr13 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108215580 | C | CG | upstream_gene_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00741.hp1 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(3): Show | a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0022 others(15): Show |
51 | 388 | 0.1314 | 1 | c.-31 others(12): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2811 | chr13 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108215983 | G | GT | upstream_gene_variant | MODIFIER | HG01346.hp2 HG01496.hp1 HG01993.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025a0001c0001t0034 | a0001c0001t0001g0001 a0001c0001t0001g0013 a0001c0001t0025g0001 others(1): Show |
9 | 376 | 0.0239 | 1 | c.-26 others(12): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2408 | chr13 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108217703 | G | GA | upstream_gene_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG00738.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(16): Show |
32 | 388 | 0.0825 | 1 | c.-97 others(10): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 688 | chr13 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108225051 | A | AT | intron_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 | 1 | c.-20 others(9): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ABHD13_chr13_108213392_108239243 | 108232109 | C | CA | 3_prime_UTR_variant | MODIFIER | HG01515.hp2 HG03669.hp2 HG03688.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0002 a0001c0001t0009g0045 |
5 | 387 | 0.0129 | 1 | c.*18 others(6): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2/2 | 1887 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
ABHD13_chr13_108213392_108239243 | 108232117 | A | AC | 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 | 1 | c.*18 others(12): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2/2 | 1886 | chr13 | TogoVar | ||||||
ABHD13_chr13_108213392_108239243 | 108236682 | A | AT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00438.hp2 HG00544.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0005 others(24): Show |
53 | 226 | 0.2345 | 1 | c.*64 others(12): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2440 | chr13 | TogoVar | |||||||
ABHD14A_chr3_51970064_51986196 | 51972236 | C | CA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01243.hp1 others(9): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(5): Show |
12 | 340 | 0.0353 | 1 | c.-29 others(12): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 2827 | chr3 | TogoVar | |||||||
ABHD14A_chr3_51970064_51986196 | 51973044 | A | AT | upstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG01106.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(4): Show |
19 | 338 | 0.0562 | 1 | c.-20 others(12): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 2019 | chr3 | TogoVar | |||||||
ABHD14A_chr3_51970064_51986196 | 51973218 | G | GT | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01175.hp1 others(12): Show |
a0001a0003a0006 | a0001c0001a0003c0004a0006c0007 | a0001c0001t0001a0003c0004t0001a0006c0007t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0003c0004t0001g0001 others(1): Show |
15 | 338 | 0.0444 | 1 | c.-19 others(12): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 1845 | chr3 | TogoVar | |||||||
ABHD14A_chr3_51970064_51986196 | 51973505 | G | GT | upstream_gene_variant | MODIFIER | HG02074.hp2 HG02257.hp1 HG03942.hp1 others(9): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0027 others(1): Show |
12 | 326 | 0.0368 | 1 | c.-16 others(12): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 1558 | chr3 | TogoVar | |||||||
ABHD14A_chr3_51970064_51986196 | 51981894 | C | CA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(34): Show |
a0001a0002a0007 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0005t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(8): Show |
37 | 84 | 0.4405 | 1 | c.*87 others(10): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 699 | chr3 | TogoVar | |||||||
ABHD14A_chr3_51970064_51986196 | 51984814 | C | CA | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01884.hp2 others(29): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0007 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0002c0002t0001g0010 others(7): Show |
32 | 336 | 0.0952 | 1 | c.*37 others(12): Show |
ABHD14A | ENSG00000248487.10 | transcript | ENST00000273596.8 | protein_coding | 3619 | chr3 | TogoVar | |||||||
ABHD14B_chr3_51963515_51979049 | 51967495 | G | GC | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(107): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(26): Show |
110 | 310 | 0.3548 | 1 | c.*19 others(6): Show |
ABHD14B | ENSG00000114779.20 | transcript | ENST00000361143.10 | protein_coding | 1019 | chr3 | TogoVar | |||||||
ABHD14B_chr3_51963515_51979049 | 51972236 | C | CA | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG01243.hp2 others(11): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0040 a0001c0001t0001g0045 others(6): Show |
14 | 320 | 0.0438 | 1 | c.-28 others(8): Show |
ABHD14B | ENSG00000114779.20 | transcript | ENST00000361143.10 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
ABHD14B_chr3_51963515_51979049 | 51973044 | A | AT | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG01106.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0023 a0001c0001t0001g0033 a0001c0001t0001g0045 others(5): Show |
17 | 318 | 0.0535 | 1 | c.-29 others(8): Show |
ABHD14B | ENSG00000114779.20 | transcript | ENST00000361143.10 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
ABHD14B_chr3_51963515_51979049 | 51973218 | G | GT | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01099.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0008 a0001c0001t0001g0012 a0001c0001t0001g0031 others(3): Show |
14 | 319 | 0.0439 | 1 | c.-29 others(8): Show |
ABHD14B | ENSG00000114779.20 | transcript | ENST00000361143.10 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
ABHD14B_chr3_51963515_51979049 | 51973505 | G | GT | intron_variant | MODIFIER | HG02074.hp2 HG02257.hp1 HG03942.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0021 a0001c0001t0001g0031 others(1): Show |
11 | 307 | 0.0358 | 1 | c.-29 others(8): Show |
ABHD14B | ENSG00000114779.20 | transcript | ENST00000361143.10 | protein_coding | 1/3 | chr3 | TogoVar | |||||||
ABHD15_chr17_29555547_29572037 | 29555801 | G | GA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00558.hp1 others(78): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(26): Show |
81 | 416 | 0.1947 | 1 | c.*67 others(12): Show |
ABHD15 | ENSG00000168792.5 | transcript | ENST00000307201.5 | protein_coding | 4745 | chr17 | TogoVar | |||||||
ABHD15_chr17_29555547_29572037 | 29556698 | T | TA | downstream_gene_variant | MODIFIER | HG01109.hp2 HG03139.hp1 HG03831.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0002a0002c0003t0001 | a0001c0001t0001g0020 a0001c0001t0001g0063 a0001c0002t0002g0017 others(1): Show |
5 | 415 | 0.0120 | 1 | c.*58 others(12): Show |
ABHD15 | ENSG00000168792.5 | transcript | ENST00000307201.5 | protein_coding | 3848 | chr17 | TogoVar | |||||||
ABHD15_chr17_29555547_29572037 | 29558399 | C | CT | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp2 others(105): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(46): Show |
108 | 407 | 0.2654 | 1 | c.*41 others(12): Show |
ABHD15 | ENSG00000168792.5 | transcript | ENST00000307201.5 | protein_coding | 2147 | chr17 | TogoVar | |||||||
ABHD15_chr17_29555547_29572037 | 29563384 | T | TA | intron_variant | MODIFIER | HG01928.hp1 HG02148.hp2 HG03579.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0043 a0001c0001t0002g0088 a0001c0001t0002g0110 others(5): Show |
10 | 344 | 0.0291 | 1 | c.882 others(8): Show |
ABHD15 | ENSG00000168792.5 | transcript | ENST00000307201.5 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31682781 | C | CA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00621.hp1 others(79): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(40): Show |
82 | 242 | 0.3388 | 1 | c.*44 others(6): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 4173 | chr6 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31682806 | A | AG | downstream_gene_variant | MODIFIER | HG01243.hp1 HG03195.hp1 HG03195.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 a0001c0002t0001g0032 a0001c0002t0001g0140 |
5 | 416 | 0.0120 | 1 | c.*44 others(12): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 4148 | chr6 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31684428 | C | CT | downstream_gene_variant | MODIFIER | HG00741.hp1 HG01175.hp2 HG01891.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0064 a0001c0001t0002g0010 others(14): Show |
30 | 278 | 0.1079 | 1 | c.*27 others(12): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 2526 | chr6 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31685503 | C | CA | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(44): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(19): Show |
47 | 401 | 0.1172 | 1 | c.*17 others(12): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 1451 | chr6 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31694057 | C | CT | intron_variant | MODIFIER | HG00642.hp1 HG01106.hp1 HG01243.hp2 others(28): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0064 a0001c0001t0001g0122 a0001c0001t0002g0030 others(15): Show |
31 | 405 | 0.0765 | 1 | c.430 others(8): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 5/19 | chr6 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31696163 | C | CA | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp1 NA18949.hp2 others(6): Show |
a0001 | a0001c0001a0001c0004a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(1): Show | a0001c0001t0001g0137 a0001c0001t0001g0148 a0001c0001t0002g0058 others(6): Show |
9 | 411 | 0.0219 | 1 | c.429 others(8): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 5/19 | chr6 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31698251 | G | GA | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00733.hp1 others(28): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0003t0002others(1): Show | a0001c0001t0001g0138 a0001c0001t0002g0099 a0001c0003t0002g0005 others(9): Show |
31 | 415 | 0.0747 | 1 | c.344 others(9): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 4/19 | chr6 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31698407 | T | TA | intron_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00621.hp1 others(23): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0002a0004c0008t0002 | a0001c0001t0002g0010 a0001c0001t0002g0016 a0001c0001t0002g0029 others(9): Show |
26 | 415 | 0.0627 | 1 | c.344 others(9): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 4/19 | chr6 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31699408 | C | CA | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp2 HG00733.hp1 others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0013 a0001c0001t0001g0063 a0001c0001t0001g0064 others(34): Show |
66 | 368 | 0.1793 | 1 | c.343 others(9): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 4/19 | chr6 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31704725 | G | GT | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00741.hp1 HG01167.hp1 others(71): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(40): Show |
74 | 262 | 0.2824 | 1 | c.-14 others(12): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 1402 | chr6 | TogoVar | |||||||
ABHD16A_chr6_31681955_31708324 | 31706264 | C | CT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00423.hp1 others(61): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0009 others(28): Show |
64 | 239 | 0.2678 | 1 | c.-29 others(12): Show |
ABHD16A | ENSG00000204427.12 | transcript | ENST00000395952.8 | protein_coding | 2941 | chr6 | TogoVar | |||||||
ABHD16B_chr20_63856498_63867988 | 63862607 | A | AC | frameshift_variant | HIGH | HG00597.hp2 HG01175.hp2 HG01255.hp2 others(15): Show |
a0003a0005 | a0003c0003a0003c0016a0005c0007 | a0003c0003t0001a0003c0016t0001a0005c0007t0001 | a0003c0003t0001g0000 a0003c0016t0001g0000 a0005c0007t0001g0000 |
18 | 396 | 0.0455 | 1 | c.107 others(5): Show |
p.Val others(5): Show |
ABHD16B | ENSG00000183260.7 | transcript | ENST00000369916.5 | protein_coding | 1/1 | 1115/1491 | 1072/1410 | 358/469 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||
ABHD16B_chr20_63856498_63867988 | 63863057 | C | CG | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00544.hp2 others(90): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0004a0001c0017others(4): Show | a0001c0001t0001a0001c0004t0001a0001c0017t0001others(4): Show | a0001c0001t0001g0000 a0001c0004t0001g0000 a0001c0017t0001g0000 others(4): Show |
93 | 346 | 0.2688 | 1 | c.*10 others(10): Show |
ABHD16B | ENSG00000183260.7 | transcript | ENST00000369916.5 | protein_coding | 70 | chr20 | TogoVar | |||||||
ABHD16B_chr20_63856498_63867988 | 63866771 | T | TA | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(73): Show |
a0001a0003a0008others(1): Show | a0001c0001a0003c0003a0008c0015others(1): Show | a0001c0001t0001a0003c0003t0001a0008c0015t0001others(1): Show | a0001c0001t0001g0000 a0003c0003t0001g0000 a0008c0015t0001g0000 others(1): Show |
76 | 395 | 0.1924 | 1 | c.*38 others(12): Show |
ABHD16B | ENSG00000183260.7 | transcript | ENST00000369916.5 | protein_coding | 3784 | chr20 | TogoVar | |||||||
ABHD17A_chr19_1871810_1890496 | 1874746 | C | CA | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00642.hp2 HG01081.hp1 others(37): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0008a0001c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0012 others(9): Show |
40 | 99 | 0.4040 | 1 | c.*24 others(12): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 2063 | chr19 | TogoVar | |||||||
ABHD17A_chr19_1871810_1890496 | 1879859 | G | GC | intron_variant | MODIFIER | HG01192.hp1 HG01934.hp2 HG02004.hp2 others(14): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0002a0005c0005t0001 | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0047 others(7): Show |
17 | 414 | 0.0411 | 1 | c.527 others(7): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 3/4 | chr19 | TogoVar | |||||||
ABHD17A_chr19_1871810_1890496 | 1885581 | T | TG | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(228): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(38): Show |
231 | 414 | 0.5580 | 1 | c.-46 others(10): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 86 | chr19 | TogoVar | |||||||
ABHD17A_chr19_1871810_1890496 | 1886951 | C | CA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp2 others(147): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0010 others(25): Show |
150 | 279 | 0.5376 | 1 | c.-18 others(12): Show |
ABHD17A | ENSG00000129968.17 | transcript | ENST00000292577.12 | protein_coding | 1456 | chr19 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71864213 | C | CT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00733.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0012 others(27): Show |
33 | 48 | 0.6875 | 1 | c.*25 others(6): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 938 | chr9 | TogoVar | |||||||
ABHD17B_chr9_71860152_71916193 | 71868052 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(131): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(105): Show |
134 | 143 | 0.9371 | 1 | c.648 others(9): Show |
ABHD17B | ENSG00000107362.14 | transcript | ENST00000333421.7 | protein_coding | 3/3 | chr9 | TogoVar |