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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTR1A_chr10_102474229_102507712 | 102497171 | G | GA | intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG00597.hp1 others(95): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0172 a0001c0001t0002g0002 a0001c0001t0002g0003 others(53): Show |
98 | 388 | 0.2526 | 1 | c.48+ others(8): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ACTR1A_chr10_102474229_102507712 | 102497652 | A | AT | intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 HG01891.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0022 a0001c0001t0004g0023 a0001c0001t0004g0024 others(10): Show |
16 | 388 | 0.0412 | 1 | c.48+ others(8): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ACTR1A_chr10_102474229_102507712 | 102497929 | C | CA | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp2 HG00735.hp2 others(35): Show |
a0001a0003a0004 | a0001c0001a0003c0006a0004c0004 | a0001c0001t0001a0001c0001t0002a0003c0006t0001others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0020 a0001c0001t0001g0144 others(28): Show |
38 | 388 | 0.0979 | 1 | c.48+ others(8): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ACTR1A_chr10_102474229_102507712 | 102498090 | C | CA | intron_variant | MODIFIER | HG02280.hp2 HG02976.hp2 NA18522.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0037 a0001c0001t0001g0125 a0001c0001t0002g0034 others(3): Show |
8 | 388 | 0.0206 | 1 | c.48+ others(8): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ACTR1A_chr10_102474229_102507712 | 102498325 | T | TC | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00558.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0007 a0001c0001t0001g0014 a0001c0001t0001g0025 others(22): Show |
35 | 388 | 0.0902 | 1 | c.48+ others(16): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 1/10 | chr10 | TogoVar | |||||||
ACTR1A_chr10_102474229_102507712 | 102506039 | G | GA | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00639.hp2 others(32): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0002 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0039 others(22): Show |
35 | 388 | 0.0902 | 1 | c.-33 others(6): Show |
ACTR1A | ENSG00000138107.13 | transcript | ENST00000369905.9 | protein_coding | 3328 | chr10 | TogoVar | |||||||
ACTR1B_chr2_97650939_97669044 | 97658090 | C | CG | frameshift_variant | HIGH | NA19076.hp1 | a0004 | a0004c0011 | a0004c0011t0001 | a0004c0011t0001g0052 | 1 | 398 | 0.0025 | 1 | c.777 others(4): Show |
p.Glu others(5): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 8/11 | 931/2204 | 777/1131 | 259/376 | chr2 | TogoVar | |||
ACTR1B_chr2_97650939_97669044 | 97659444 | T | TG | frameshift_variant | HIGH | NA18940.hp1 NA19076.hp1 |
a0004 | a0004c0011a0004c0012 | a0004c0011t0001a0004c0012t0001 | a0004c0011t0001g0052 a0004c0012t0001g0053 |
2 | 398 | 0.0050 | 1 | c.222 others(4): Show |
p.Met others(4): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 4/11 | 376/2204 | 222/1131 | 74/376 | chr2 | TogoVar | |||
ACTR1B_chr2_97650939_97669044 | 97662404 | C | CT | intron_variant | MODIFIER | HG01081.hp2 HG02293.hp2 HG02698.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0004 | a0001c0001t0001g0019 a0001c0002t0002g0016 a0001c0002t0002g0064 others(2): Show |
8 | 398 | 0.0201 | 1 | c.49- others(7): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACTR1B_chr2_97650939_97669044 | 97666529 | C | CA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(177): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(15): Show | a0001c0001t0001g0001 a0001c0001t0005g0039 a0001c0001t0008g0017 others(34): Show |
180 | 398 | 0.4523 | 1 | c.-26 others(6): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 2486 | chr2 | TogoVar | |||||||
ACTR1B_chr2_97650939_97669044 | 97666842 | C | CA | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00741.hp1 HG01106.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0005g0037 others(6): Show |
29 | 398 | 0.0729 | 1 | c.-29 others(6): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 2799 | chr2 | TogoVar | |||||||
ACTR1B_chr2_97650939_97669044 | 97667430 | G | GT | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00733.hp1 others(40): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0019 others(15): Show |
43 | 398 | 0.1080 | 1 | c.-35 others(6): Show |
ACTR1B | ENSG00000115073.8 | transcript | ENST00000289228.7 | protein_coding | 3387 | chr2 | TogoVar | |||||||
ACTR2_chr2_65222831_65276253 | 65224141 | A | AT | upstream_gene_variant | MODIFIER | HG02257.hp1 HG02451.hp2 HG02572.hp1 others(19): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0165 a0001c0001t0002g0010 a0001c0001t0002g0011 others(14): Show |
22 | 326 | 0.0675 | 1 | c.-37 others(12): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 3689 | chr2 | TogoVar | |||||||
ACTR2_chr2_65222831_65276253 | 65224659 | C | CT | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01257.hp2 HG01258.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0002g0102 others(5): Show |
9 | 326 | 0.0276 | 1 | c.-32 others(12): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 3171 | chr2 | TogoVar | |||||||
ACTR2_chr2_65222831_65276253 | 65225038 | C | CT | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02080.hp1 HG02109.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0001g0177 others(14): Show |
17 | 326 | 0.0522 | 1 | c.-28 others(12): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 2792 | chr2 | TogoVar | |||||||
ACTR2_chr2_65222831_65276253 | 65225849 | A | AT | upstream_gene_variant | MODIFIER | HG02056.hp2 HG02080.hp1 HG02080.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0123 a0001c0001t0001g0152 a0001c0001t0001g0165 others(3): Show |
6 | 326 | 0.0184 | 1 | c.-20 others(12): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 1981 | chr2 | TogoVar | |||||||
ACTR2_chr2_65222831_65276253 | 65228426 | T | TA | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp2 HG01261.hp2 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0044 a0001c0001t0001g0046 a0001c0001t0001g0052 others(14): Show |
19 | 326 | 0.0583 | 1 | c.48+ others(7): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65229750 | C | CA | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp2 HG01074.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0023 a0001c0001t0001g0044 a0001c0001t0001g0046 others(40): Show |
51 | 326 | 0.1564 | 1 | c.48+ others(8): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65229766 | A | AG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00733.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0035 a0001c0001t0006g0218 a0001c0001t0006g0244 others(6): Show |
10 | 326 | 0.0307 | 1 | c.48+ others(16): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 1/8 | chr2 | TogoVar | |||||||
ACTR2_chr2_65222831_65276253 | 65230403 | A | AT | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp2 HG01243.hp1 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0057 a0001c0001t0002g0228 a0001c0001t0002g0252 others(13): Show |
16 | 326 | 0.0491 | 1 | c.48+ others(8): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65231051 | C | CA | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02630.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0147 a0001c0001t0002g0039 a0001c0001t0002g0232 others(9): Show |
13 | 326 | 0.0399 | 1 | c.48+ others(8): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65232997 | G | GT | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00609.hp1 others(59): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0013 others(45): Show |
62 | 326 | 0.1902 | 1 | c.48+ others(8): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65236335 | C | CA | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp1 HG02451.hp2 others(40): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0087 a0001c0001t0001g0088 a0001c0001t0001g0177 others(31): Show |
43 | 326 | 0.1319 | 1 | c.49- others(8): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65236561 | G | GT | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0014 | a0001c0001t0002g0038 a0001c0001t0002g0245 a0001c0001t0002g0246 others(1): Show |
6 | 326 | 0.0184 | 1 | c.49- others(8): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65238655 | T | TA | intron_variant | MODIFIER | HG00642.hp1 HG02129.hp1 HG02132.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0178 a0001c0001t0003g0195 a0001c0001t0004g0100 others(5): Show |
9 | 326 | 0.0276 | 1 | c.49- others(8): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65241054 | C | CA | intron_variant | MODIFIER | HG00642.hp1 HG01167.hp1 HG01167.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0008 a0001c0001t0001g0145 a0001c0001t0001g0167 others(6): Show |
11 | 326 | 0.0337 | 1 | c.159 others(9): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65242676 | T | TC | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02451.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0011 | a0001c0001t0009g0028 a0001c0001t0009g0207 a0001c0001t0009g0208 others(7): Show |
11 | 326 | 0.0337 | 1 | c.159 others(9): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65244941 | C | CA | intron_variant | MODIFIER | HG01884.hp2 HG02257.hp1 HG02451.hp2 others(36): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0125 a0001c0001t0001g0152 a0001c0001t0001g0165 others(30): Show |
39 | 326 | 0.1196 | 1 | c.160 others(9): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65250672 | C | CA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(187): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(14): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(154): Show |
190 | 326 | 0.5828 | 1 | c.376 others(8): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65253876 | G | GA | intron_variant | MODIFIER | HG01346.hp1 NA19087.hp2 NA19089.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0148 a0001c0001t0001g0149 a0001c0001t0001g0150 |
3 | 326 | 0.0092 | 1 | c.585 others(7): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65260729 | C | CT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00733.hp2 others(24): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0130 a0001c0001t0001g0131 a0001c0001t0001g0147 others(21): Show |
27 | 326 | 0.0828 | 1 | c.736 others(8): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65261104 | T | TC | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp1 others(125): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(102): Show |
128 | 326 | 0.3926 | 1 | c.736 others(8): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65262394 | A | AT | intron_variant | MODIFIER | HG00741.hp2 HG01074.hp2 HG01256.hp2 others(31): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0106 a0001c0001t0001g0152 a0001c0001t0002g0010 others(25): Show |
34 | 326 | 0.1043 | 1 | c.881 others(9): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65262992 | T | TA | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00544.hp1 others(124): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(101): Show |
127 | 326 | 0.3896 | 1 | c.881 others(9): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65263265 | G | GT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(111): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0130 a0001c0001t0001g0152 a0001c0001t0002g0010 others(91): Show |
114 | 326 | 0.3497 | 1 | c.882 others(9): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65268439 | A | AC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(250): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(203): Show |
253 | 326 | 0.7761 | 1 | c.101 others(9): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACTR2_chr2_65222831_65276253 | 65268590 | A | AC | frameshift_variant | HIGH | NA19089.hp2 | a0002 | a0002c0005 | a0002c0005t0028 | a0002c0005t0028g0091 | 1 | 326 | 0.0031 | 1 | c.104 others(5): Show |
p.Arg others(5): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 9/9 | 1125/3783 | 1046/1185 | 349/394 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||
ACTR2_chr2_65222831_65276253 | 65270901 | G | GA | 3_prime_UTR_variant | MODIFIER | HG02723.hp1 HG02723.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0019 | a0001c0001t0010g0036 a0001c0001t0010g0229 a0001c0001t0010g0230 others(2): Show |
6 | 326 | 0.0184 | 1 | c.*21 others(6): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 9/9 | 2180 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ACTR2_chr2_65222831_65276253 | 65274235 | C | CT | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(248): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(202): Show |
251 | 326 | 0.7699 | 1 | c.*55 others(12): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 2983 | chr2 | TogoVar | |||||||
ACTR2_chr2_65222831_65276253 | 65274313 | G | GT | downstream_gene_variant | MODIFIER | HG01256.hp2 HG02258.hp2 HG02280.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(1): Show | a0001c0001t0001g0014 a0001c0001t0001g0130 a0001c0001t0002g0219 others(5): Show |
11 | 326 | 0.0337 | 1 | c.*55 others(12): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 3061 | chr2 | TogoVar | |||||||
ACTR2_chr2_65222831_65276253 | 65274989 | T | TC | downstream_gene_variant | MODIFIER | HG03098.hp1 NA19030.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0036 a0001c0001t0010g0231 |
3 | 326 | 0.0092 | 1 | c.*62 others(12): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 3737 | chr2 | TogoVar | |||||||
ACTR2_chr2_65222831_65276253 | 65274990 | T | TA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(72): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0002g0010 a0001c0001t0002g0011 a0001c0001t0002g0012 others(60): Show |
75 | 326 | 0.2301 | 1 | c.*62 others(12): Show |
ACTR2 | ENSG00000138071.15 | transcript | ENST00000260641.10 | protein_coding | 3738 | chr2 | TogoVar | |||||||
ACTR3B_chr7_152754752_152860378 | 152759190 | A | AT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01515.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0028 a0001c0001t0002g0068 a0001c0001t0002g0069 others(6): Show |
9 | 310 | 0.0290 | 1 | c.-69 others(10): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 561 | chr7 | TogoVar | |||||||
ACTR3B_chr7_152754752_152860378 | 152763313 | C | CA | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp1 others(83): Show |
a0001 | a0001c0001a0001c0002a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0022 others(82): Show |
86 | 310 | 0.2774 | 1 | c.44+ others(8): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152764790 | C | CA | intron_variant | MODIFIER | HG01361.hp2 HG01884.hp2 HG01934.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0296 a0001c0001t0002g0002 a0001c0001t0002g0019 others(5): Show |
9 | 310 | 0.0290 | 1 | c.44+ others(8): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152765415 | C | CT | intron_variant | MODIFIER | HG00735.hp1 HG02135.hp2 HG02451.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0137 a0001c0001t0001g0181 a0001c0001t0001g0182 others(5): Show |
8 | 310 | 0.0258 | 1 | c.44+ others(8): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152767093 | G | GT | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0122 others(28): Show |
31 | 310 | 0.1000 | 1 | c.44+ others(8): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152769869 | T | TA | intron_variant | MODIFIER | HG01891.hp1 HG02280.hp2 HG02451.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0002g0007 others(12): Show |
15 | 310 | 0.0484 | 1 | c.44+ others(8): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152772988 | A | AT | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp1 others(91): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0200 a0001c0001t0002g0004 a0001c0001t0002g0005 others(91): Show |
94 | 310 | 0.3032 | 1 | c.45- others(9): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ACTR3B_chr7_152754752_152860378 | 152775190 | C | CA | intron_variant | MODIFIER | HG00642.hp2 HG01099.hp1 HG01109.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0112 a0001c0001t0001g0113 others(32): Show |
36 | 310 | 0.1161 | 1 | c.45- others(8): Show |
ACTR3B | ENSG00000133627.18 | transcript | ENST00000256001.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |