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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTRT2_chr1_3016467_3027903 | 3016491 | G | GGGGT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(78): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0007others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(6): Show | a0001c0001t0001g0000 a0001c0004t0001g0000 a0001c0004t0002g0000 others(6): Show |
81 | 351 | 0.2308 | 4 | c.-51 others(15): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4975 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3016514 | A | AAGAG | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(77): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(4): Show | a0001c0001t0001g0000 a0001c0004t0001g0000 a0001c0004t0002g0000 others(4): Show |
80 | 363 | 0.2204 | 4 | c.-51 others(15): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4952 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3016631 | G | GAGAA | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 364 | 0.0082 | 4 | c.-50 others(15): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4835 | chr1 | TogoVar | |||||||
ACTRT2_chr1_3016467_3027903 | 3016648 | A | AGGAG | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG03239.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 349 | 0.0086 | 4 | c.-50 others(15): Show |
ACTRT2 | ENSG00000169717.7 | transcript | ENST00000378404.4 | protein_coding | 4818 | chr1 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770629 | C | CATAA | upstream_gene_variant | MODIFIER | HG00639.hp2 HG02486.hp2 HG02572.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0005 others(3): Show |
12 | 385 | 0.0312 | 4 | c.-11 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1069 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770656 | C | CATAA | upstream_gene_variant | MODIFIER | HG00639.hp2 HG01243.hp2 HG02922.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0043 a0001c0001t0001g0044 others(1): Show |
7 | 389 | 0.0180 | 4 | c.-11 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1096 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770876 | A | AATAT | upstream_gene_variant | MODIFIER | HG01358.hp1 HG02602.hp2 NA18957.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0003 a0002c0002t0001g0004 |
5 | 222 | 0.0225 | 4 | c.-13 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1316 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770903 | A | AATAT | upstream_gene_variant | MODIFIER | HG01074.hp2 HG01256.hp2 HG01258.hp1 others(27): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0005 others(4): Show |
30 | 215 | 0.1395 | 4 | c.-13 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1343 | chr3 | TogoVar | |||||||
ACTRT3_chr3_169761921_169774561 | 169770930 | A | AATAT | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00735.hp2 HG01074.hp1 others(33): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0015 others(6): Show |
36 | 113 | 0.3186 | 4 | c.-14 others(15): Show |
ACTRT3 | ENSG00000184378.3 | transcript | ENST00000330368.3 | protein_coding | 1370 | chr3 | TogoVar | |||||||
ACVR1B_chr12_51946699_52002078 | 51993765 | T | TAAAA | intron_variant | MODIFIER | HG00438.hp2 HG03654.hp2 NA18943.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0031 | a0001c0001t0002g0043 a0001c0001t0002g0044 a0001c0001t0002g0059 others(5): Show |
8 | 32 | 0.2500 | 4 | c.139 others(21): Show |
ACVR1B | ENSG00000135503.13 | transcript | ENST00000257963.9 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVR1C_chr2_157521767_157633864 | 157554201 | G | GAGAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(1): Show | a0001c0001t0001g0151 a0001c0001t0001g0160 a0001c0001t0001g0174 others(4): Show |
7 | 54 | 0.1296 | 4 | c.544 others(21): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157576203 | C | CTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(68): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(22): Show | a0001c0001t0001g0196 a0001c0001t0001g0197 a0001c0001t0005g0213 others(67): Show |
71 | 162 | 0.4383 | 4 | c.304 others(23): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157588848 | C | CATAT | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG01192.hp2 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0015 a0001c0001t0001g0020 others(37): Show |
40 | 59 | 0.6780 | 4 | c.74- others(19): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157629587 | T | TACAC | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0012others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0002 a0001c0001t0001g0148 a0001c0001t0001g0151 others(37): Show |
40 | 82 | 0.4878 | 4 | c.-94 others(13): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 724 | chr2 | TogoVar | |||||||
ACVR1C_chr2_157521767_157633864 | 157630594 | C | CAAAA | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02647.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0014a0001c0002t0028others(1): Show | a0001c0001t0001g0017 a0001c0002t0014g0049 a0001c0002t0028g0048 others(2): Show |
5 | 63 | 0.0794 | 4 | c.-19 others(15): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 1731 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157756973 | T | TTATA | intron_variant | MODIFIER | HG03041.hp1 HG03486.hp2 NA21309.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0001a0001c0003t0004a0001c0005t0001 | a0001c0003t0001g0104 a0001c0003t0004g0167 a0001c0005t0001g0157 |
3 | 162 | 0.0185 | 4 | c.126 others(23): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157757021 | G | GATAT | intron_variant | MODIFIER | HG00735.hp1 HG02559.hp1 HG03041.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0004a0001c0003t0001a0001c0003t0003others(4): Show | a0001c0001t0004g0164 a0001c0003t0001g0104 a0001c0003t0003g0144 others(4): Show |
7 | 160 | 0.0438 | 4 | c.126 others(23): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157795377 | A | AACAC | intron_variant | MODIFIER | HG01891.hp2 HG02809.hp1 HG02895.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004 | a0001c0002t0001g0100 a0001c0002t0001g0134 a0001c0002t0001g0149 others(2): Show |
5 | 22 | 0.2273 | 4 | c.67+ others(19): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157807854 | T | TGGGG | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(9): Show | a0001c0001t0001g0057 a0001c0001t0001g0082 a0001c0001t0001g0106 others(31): Show |
34 | 68 | 0.5000 | 4 | c.-7- others(19): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157855321 | T | TACAC | intron_variant | MODIFIER | HG00408.hp2 NA18951.hp2 NA18954.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0042 a0001c0001t0002g0068 a0001c0001t0002g0105 others(1): Show |
4 | 120 | 0.0333 | 4 | c.-18 others(25): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157862422 | T | TACAC | intron_variant | MODIFIER | HG01169.hp2 HG02647.hp1 HG02647.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0020 a0001c0001t0001g0115 a0001c0001t0001g0116 others(9): Show |
12 | 35 | 0.3429 | 4 | c.-18 others(25): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157863336 | C | CTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00558.hp2 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(4): Show | a0001c0001t0001g0042 a0001c0001t0001g0054 a0001c0001t0001g0056 others(18): Show |
21 | 32 | 0.6563 | 4 | c.-18 others(25): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157865821 | A | AAGAT | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp2 others(43): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(12): Show | a0001c0001t0001g0040 a0001c0001t0001g0042 a0001c0001t0001g0054 others(43): Show |
46 | 113 | 0.4071 | 4 | c.-18 others(23): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157878760 | A | AGTGT | upstream_gene_variant | MODIFIER | HG01168.hp2 HG01884.hp2 HG02055.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0010a0001c0002t0003a0001c0002t0005others(4): Show | a0001c0001t0010g0003 a0001c0002t0003g0158 a0001c0002t0005g0002 others(9): Show |
12 | 32 | 0.3750 | 4 | c.-31 others(15): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2431 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147845000 | G | GTTTT | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02622.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0009 | a0001c0002t0001g0025 a0001c0002t0001g0115 a0001c0002t0001g0116 others(3): Show |
6 | 64 | 0.0938 | 4 | c.-15 others(13): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 28 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147845348 | G | GCCCC | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG01069.hp2 others(22): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(4): Show | a0001c0001t0001g0094 a0001c0002t0001g0007 a0001c0002t0001g0095 others(20): Show |
25 | 71 | 0.3521 | 4 | c.55+ others(17): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147881602 | A | AGTGT | intron_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG02922.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 a0001c0001t0001g0173 a0001c0001t0001g0174 others(3): Show |
6 | 264 | 0.0227 | 4 | c.56- others(21): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147888681 | C | CTTCT | intron_variant | MODIFIER | NA18943.hp1 NA18946.hp2 NA18948.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0002 a0001c0001t0003g0009 a0001c0001t0003g0272 others(5): Show |
13 | 321 | 0.0405 | 4 | c.56- others(19): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147890341 | A | AGTGT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(112): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(6): Show | a0001c0001t0001g0094 a0001c0001t0001g0173 a0001c0001t0001g0174 others(102): Show |
115 | 140 | 0.8214 | 4 | c.56- others(19): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147931537 | A | ATGAT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG01070.hp1 HG01884.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 a0001c0002t0001g0045 a0001c0002t0001g0081 others(1): Show |
4 | 336 | 0.0119 | 4 | c.*42 others(15): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 716 | chr2 | TogoVar | |||||||
ACVRL1_chr12_51902504_51928361 | 51919361 | C | CTCTG | intron_variant | MODIFIER | NA18977.hp2 NA18997.hp1 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0033 | a0001c0001t0001g0043 a0001c0001t0001g0102 a0001c0001t0033g0043 |
3 | 436 | 0.0069 | 4 | c.137 others(21): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACVRL1_chr12_51902504_51928361 | 51919363 | C | CTGTG | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00621.hp1 others(34): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0030 a0001c0001t0002g0013 a0001c0001t0002g0021 others(15): Show |
37 | 187 | 0.1979 | 4 | c.137 others(21): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACY1_chr3_51978535_51994197 | 51981122 | A | AGCTG | upstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG01934.hp2 others(22): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0012 others(1): Show |
25 | 336 | 0.0744 | 4 | c.-24 others(15): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 2412 | chr3 | TogoVar | |||||||
ACY1_chr3_51978535_51994197 | 51981894 | C | CAAAA | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01952.hp2 HG02074.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0021 others(1): Show |
10 | 53 | 0.1887 | 4 | c.-17 others(15): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 1640 | chr3 | TogoVar | |||||||
ACY1_chr3_51978535_51994197 | 51993865 | T | TGGCC | downstream_gene_variant | MODIFIER | HG01943.hp2 HG02148.hp1 HG02148.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0019 |
8 | 333 | 0.0240 | 4 | c.*47 others(15): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 4669 | chr3 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67638210 | A | AAAAT | downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00558.hp1 others(58): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(26): Show |
61 | 369 | 0.1653 | 4 | c.*45 others(15): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 4344 | chr11 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67644732 | C | CCACA | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG00735.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0008 | a0001c0001t0001g0013 a0001c0001t0001g0021 a0001c0001t0001g0036 others(11): Show |
21 | 66 | 0.3182 | 4 | c.744 others(17): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 7/7 | chr11 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67652205 | A | AAAAT | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01070.hp2 HG01243.hp2 others(7): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0002 | a0001c0001t0001a0001c0006t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0036 a0001c0001t0001g0093 others(5): Show |
10 | 40 | 0.2500 | 4 | c.-17 others(15): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 1476 | chr11 | TogoVar | |||||||
ACYP1_chr14_75048243_75069024 | 75057964 | C | CAAAA | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00642.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0007 others(7): Show |
52 | 63 | 0.8254 | 4 | c.85- others(19): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
ACYP1_chr14_75048243_75069024 | 75062101 | C | CAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0009 others(10): Show |
89 | 103 | 0.8641 | 4 | c.84+ others(19): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 53967649 | C | CAAAA | upstream_gene_variant | MODIFIER | HG01255.hp2 HG02155.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0001g0163 a0001c0001t0001g0258 a0001c0001t0004g0272 others(3): Show |
6 | 62 | 0.0968 | 4 | c.-37 others(15): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 3463 | chr2 | TogoVar | |||||||
ACYP2_chr2_53966113_54310300 | 53982828 | C | CTGTG | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02615.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0162 a0001c0001t0001g0163 a0001c0001t0001g0189 others(8): Show |
11 | 61 | 0.1803 | 4 | c.62+ others(19): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 53992074 | C | CCCTT | intron_variant | MODIFIER | HG01109.hp2 HG02109.hp2 HG02145.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(1): Show | a0001c0001t0001g0105 a0001c0002t0001g0123 a0001c0002t0006g0002 others(4): Show |
7 | 241 | 0.0290 | 4 | c.62+ others(21): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 53995488 | T | TTTTA | intron_variant | MODIFIER | HG02451.hp1 HG02486.hp1 HG02630.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0197 a0001c0001t0001g0217 a0001c0001t0001g0218 others(6): Show |
9 | 161 | 0.0559 | 4 | c.62+ others(21): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54004909 | A | AAAAC | intron_variant | MODIFIER | HG00621.hp2 HG02451.hp1 HG02615.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0027 a0001c0002t0003g0078 a0001c0002t0003g0080 others(5): Show |
8 | 159 | 0.0503 | 4 | c.62+ others(21): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54013255 | A | ATATG | intron_variant | MODIFIER | HG00438.hp1 HG03471.hp1 NA18973.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003 | a0001c0001t0001g0203 a0001c0002t0002g0108 a0001c0002t0003g0084 |
3 | 33 | 0.0909 | 4 | c.63- others(21): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54015645 | T | TCACA | intron_variant | MODIFIER | HG00544.hp2 HG01074.hp2 HG01109.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0011 | a0001c0001t0001g0105 a0001c0001t0001g0128 a0001c0001t0001g0145 others(12): Show |
15 | 78 | 0.1923 | 4 | c.63- others(21): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54015645 | T | TCTCA | intron_variant | MODIFIER | HG03669.hp1 HG04228.hp2 NA19085.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0009 a0001c0002t0002g0016 a0001c0002t0002g0062 |
3 | 66 | 0.0455 | 4 | c.63- others(21): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54017273 | T | TTTTC | intron_variant | MODIFIER | HG01169.hp1 HG02109.hp2 HG02559.hp1 others(3): Show |
a0001a0002a0003 | a0001c0002a0002c0005a0003c0004 | a0001c0002t0001a0002c0005t0002a0003c0004t0007 | a0001c0002t0001g0071 a0001c0002t0001g0073 a0001c0002t0001g0123 others(3): Show |
6 | 270 | 0.0222 | 4 | c.63- others(21): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACYP2_chr2_53966113_54310300 | 54027821 | G | GTTTC | intron_variant | MODIFIER | HG01099.hp1 HG01346.hp2 HG01516.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0014 | a0001c0002t0003g0077 a0001c0002t0003g0082 a0001c0002t0003g0085 others(2): Show |
5 | 270 | 0.0185 | 4 | c.63- others(21): Show |
ACYP2 | ENSG00000170634.13 | transcript | ENST00000607452.6 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |