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 | 50886440 | CA | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG01167.hp2 others(13): Show |
a0001a0005a0006others(1): Show | a0001c0001a0005c0008a0006c0010others(1): Show | a0001c0001t0001a0005c0008t0002a0006c0010t0001others(1): Show | a0001c0001t0001g0162 a0005c0008t0002g0010 a0005c0008t0002g0149 others(11): Show |
16 | 365 | 0.0438 | -1 | c.663 others(8): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50891250 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(366): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(34): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(345): Show |
369 | 374 | 0.9866 | -1 | c.780 others(9): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50897071 | GT | G | intron_variant | MODIFIER | HG01943.hp1 HG02155.hp2 HG03471.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0133 a0001c0001t0001g0260 a0001c0001t0001g0309 others(4): Show |
7 | 154 | 0.0455 | -1 | c.781 others(9): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50901967 | CA | C | intron_variant | MODIFIER | HG02055.hp1 HG06807.hp1 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0032 a0001c0001t0001g0046 a0001c0001t0001g0047 |
3 | 374 | 0.0080 | -1 | c.863 others(7): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50902202 | CT | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(215): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0005a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0034 others(202): Show |
218 | 374 | 0.5829 | -1 | c.863 others(8): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABHD12B_chr14_50867053_50909970 | 50905380 | CA | C | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(213): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0005a0001c0006others(10): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0034 others(200): Show |
216 | 374 | 0.5775 | -1 | c.*10 others(6): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 411 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50907759 | CA | C | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02056.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0004a0001c0005t0004a0001c0005t0008others(4): Show | a0001c0001t0004g0318 a0001c0005t0004g0026 a0001c0005t0004g0125 others(7): Show |
12 | 374 | 0.0321 | -1 | c.*33 others(6): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 2790 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50908020 | CA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(149): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0005a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(11): Show | a0001c0001t0001g0004 a0001c0001t0001g0006 a0001c0001t0001g0007 others(142): Show |
152 | 211 | 0.7204 | -1 | c.*36 others(6): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3051 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50908139 | GT | G | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02056.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0004a0001c0005t0004a0001c0005t0008others(4): Show | a0001c0001t0004g0318 a0001c0005t0004g0026 a0001c0005t0004g0125 others(7): Show |
12 | 365 | 0.0329 | -1 | c.*37 others(6): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 3170 | chr14 | TogoVar | |||||||
ABHD12B_chr14_50867053_50909970 | 50909570 | AC | A | downstream_gene_variant | MODIFIER | HG00609.hp2 HG01884.hp2 HG01981.hp1 others(18): Show |
a0001a0008 | a0001c0005a0001c0011a0008c0017 | a0001c0005t0004a0001c0005t0007a0001c0005t0008others(2): Show | a0001c0005t0004g0017 a0001c0005t0004g0125 a0001c0005t0004g0131 others(16): Show |
21 | 374 | 0.0561 | -1 | c.*52 others(6): Show |
ABHD12B | ENSG00000131969.15 | transcript | ENST00000337334.7 | protein_coding | 4601 | chr14 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25298268 | TG | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(160): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(159): Show |
163 | 314 | 0.5191 | -1 | c.*25 others(6): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1945 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25306180 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(148): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0004a0001c0001t0009a0001c0002t0002others(9): Show | a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0239 others(145): Show |
151 | 313 | 0.4824 | -1 | c.950 others(8): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 10/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25312468 | CG | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(142): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0009a0001c0002t0002a0001c0002t0003others(7): Show | a0001c0001t0009g0287 a0001c0001t0009g0288 a0001c0001t0009g0289 others(139): Show |
145 | 314 | 0.4618 | -1 | c.619 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 6/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25314678 | TA | T | intron_variant | MODIFIER | HG00438.hp1 HG01167.hp2 HG01169.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(2): Show | a0001c0001t0001g0101 a0001c0001t0001g0107 a0001c0001t0001g0126 others(21): Show |
24 | 312 | 0.0769 | -1 | c.619 others(8): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 6/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25318663 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00323.hp1 others(142): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(10): Show | a0001c0001t0001g0075 a0001c0001t0001g0089 a0001c0001t0001g0099 others(139): Show |
145 | 305 | 0.4754 | -1 | c.542 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 4/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25325203 | CA | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(81): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(81): Show |
84 | 148 | 0.5676 | -1 | c.317 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25327466 | CA | C | intron_variant | MODIFIER | HG01496.hp2 HG01515.hp1 HG01934.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0002t0002a0001c0002t0006others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0074 a0001c0002t0002g0151 others(3): Show |
6 | 289 | 0.0208 | -1 | c.317 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25333022 | GT | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(148): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0004a0001c0001t0009a0001c0002t0002others(9): Show | a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0239 others(145): Show |
151 | 314 | 0.4809 | -1 | c.316 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25336307 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(172): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0008others(12): Show | a0001c0001t0004g0229 a0001c0001t0004g0233 a0001c0001t0004g0234 others(168): Show |
175 | 311 | 0.5627 | -1 | c.316 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25342103 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(219): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(8): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(215): Show |
222 | 279 | 0.7957 | -1 | c.192 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25342454 | AT | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(159): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(12): Show | a0001c0001t0001g0097 a0001c0001t0001g0131 a0001c0001t0004g0229 others(156): Show |
162 | 286 | 0.5664 | -1 | c.192 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25346757 | GC | G | intron_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 | -1 | c.192 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25347662 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(166): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0009others(11): Show | a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0229 others(163): Show |
169 | 293 | 0.5768 | -1 | c.192 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25347906 | GA | G | intron_variant | MODIFIER | HG01167.hp2 HG02145.hp2 HG02165.hp1 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0004a0001c0005t0004 | a0001c0001t0001g0113 a0001c0001t0001g0114 a0001c0001t0004g0226 others(5): Show |
8 | 313 | 0.0256 | -1 | c.192 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25348446 | TA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp2 others(117): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(8): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(116): Show |
120 | 164 | 0.7317 | -1 | c.192 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25351009 | AC | A | intron_variant | MODIFIER | HG03491.hp2 NA18964.hp1 NA20905.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0004 | a0001c0001t0001g0054 a0001c0001t0001g0073 a0001c0004t0004g0231 |
3 | 313 | 0.0096 | -1 | c.192 others(10): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25359100 | TA | T | intron_variant | MODIFIER | HG01167.hp2 HG01256.hp1 HG01361.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0001g0014 a0001c0001t0001g0031 a0001c0001t0001g0077 others(19): Show |
22 | 262 | 0.0840 | -1 | c.192 others(10): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25360227 | CT | C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00609.hp2 others(61): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0007a0004c0009t0001 | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(61): Show |
64 | 133 | 0.4812 | -1 | c.192 others(10): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25363221 | CT | C | intron_variant | MODIFIER | HG01257.hp1 HG01975.hp1 HG02738.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0002t0002 | a0001c0001t0001g0015 a0001c0001t0001g0085 a0001c0001t0001g0117 others(3): Show |
6 | 307 | 0.0195 | -1 | c.192 others(10): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25369927 | TA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00423.hp1 others(121): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(120): Show |
124 | 152 | 0.8158 | -1 | c.191 others(10): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25372220 | CT | C | intron_variant | MODIFIER | HG00639.hp1 HG01167.hp2 HG01257.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(3): Show | a0001c0001t0001g0061 a0001c0001t0001g0065 a0001c0001t0001g0114 others(9): Show |
12 | 312 | 0.0385 | -1 | c.191 others(10): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25378697 | CT | C | intron_variant | MODIFIER | HG00544.hp1 HG00738.hp2 HG01167.hp2 others(59): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(4): Show | a0001c0001t0001g0044 a0001c0001t0001g0077 a0001c0001t0001g0138 others(57): Show |
62 | 210 | 0.2952 | -1 | c.191 others(10): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25382937 | TG | T | intron_variant | MODIFIER | HG02145.hp2 HG02559.hp1 HG02809.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0005t0004 | a0001c0001t0004g0239 a0001c0001t0004g0291 a0001c0005t0004g0292 others(1): Show |
4 | 314 | 0.0127 | -1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25382995 | TC | T | intron_variant | MODIFIER | HG02145.hp1 HG02717.hp1 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0284 a0001c0001t0004g0285 a0001c0001t0004g0286 |
3 | 314 | 0.0096 | -1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25383954 | CA | C | intron_variant | MODIFIER | HG01081.hp1 HG01167.hp2 HG01515.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0009 | a0001c0001t0001g0025 a0001c0001t0004g0225 a0001c0001t0004g0226 others(5): Show |
8 | 207 | 0.0386 | -1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25384156 | GA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(266): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(14): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(262): Show |
269 | 312 | 0.8622 | -1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25384314 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(148): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0004a0001c0001t0009a0001c0002t0002others(9): Show | a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0239 others(145): Show |
151 | 314 | 0.4809 | -1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25385331 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(11): Show | a0001c0001t0001g0010 a0001c0001t0001g0012 a0001c0001t0001g0013 others(214): Show |
218 | 253 | 0.8617 | -1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25386263 | CT | C | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02280.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0004 a0001c0001t0005g0306 a0001c0001t0005g0307 others(5): Show |
9 | 241 | 0.0373 | -1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25388762 | GT | G | intron_variant | MODIFIER | HG00544.hp1 HG01255.hp1 HG01496.hp1 others(32): Show |
a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0002 a0001c0003t0002g0003 a0001c0003t0002g0253 others(30): Show |
35 | 314 | 0.1115 | -1 | c.191 others(9): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25390475 | CG | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00639.hp2 others(17): Show |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0013 a0001c0001t0001g0014 others(17): Show |
20 | 314 | 0.0637 | -1 | c.191 others(7): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1/12 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25391727 | CT | C | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01361.hp1 HG01515.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0011 | a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0229 others(7): Show |
10 | 72 | 0.1389 | -1 | c.-10 others(6): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 893 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25392344 | TA | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(182): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(13): Show | a0001c0001t0001g0028 a0001c0001t0001g0030 a0001c0001t0001g0031 others(180): Show |
185 | 210 | 0.8810 | -1 | c.-16 others(6): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1510 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25392645 | CA | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00642.hp1 others(56): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(7): Show | a0001c0001t0001g0012 a0001c0001t0001g0015 a0001c0001t0001g0016 others(55): Show |
59 | 239 | 0.2469 | -1 | c.-19 others(6): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 1811 | chr20 | TogoVar | |||||||
ABHD12_chr20_25295214_25395835 | 25393151 | AC | A | upstream_gene_variant | MODIFIER | HG01167.hp2 HG01361.hp1 HG01515.hp2 others(27): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0004a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0004g0225 a0001c0001t0004g0226 a0001c0001t0004g0229 others(27): Show |
30 | 313 | 0.0958 | -1 | c.-24 others(6): Show |
ABHD12 | ENSG00000100997.20 | transcript | ENST00000339157.10 | protein_coding | 2317 | chr20 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108214866 | AC | A | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02145.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0030 others(2): Show |
10 | 388 | 0.0258 | -1 | c.-38 others(6): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 3525 | chr13 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108215983 | GT | G | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02809.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0033 | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0014 others(3): Show |
12 | 379 | 0.0317 | -1 | c.-26 others(6): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 2408 | chr13 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108216909 | GT | G | upstream_gene_variant | MODIFIER | HG01243.hp2 HG01891.hp2 HG02809.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0015a0001c0001t0033 | a0001c0001t0001g0005 a0001c0001t0001g0014 a0001c0001t0001g0090 others(2): Show |
11 | 387 | 0.0284 | -1 | c.-17 others(6): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 1482 | chr13 | TogoVar | |||||||
ABHD13_chr13_108213392_108239243 | 108221842 | CT | C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00597.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(7): Show | a0001c0001t0001g0028 a0001c0001t0001g0059 a0001c0001t0001g0086 others(14): Show |
39 | 385 | 0.1013 | -1 | c.-21 others(9): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
ABHD13_chr13_108213392_108239243 | 108226184 | GT | G | intron_variant | MODIFIER | HG01515.hp1 HG01517.hp2 HG03239.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0018 a0001c0001t0012g0018 |
4 | 388 | 0.0103 | -1 | c.-20 others(9): Show |
ABHD13 | ENSG00000139826.6 | transcript | ENST00000375898.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr13 | TogoVar |