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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACVR1C_chr2_157521767_157633864 | 157632857 | CTT | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(82): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0013 others(82): Show |
85 | 145 | 0.5862 | -2 | c.-42 others(13): Show |
ACVR1C | ENSG00000123612.16 | transcript | ENST00000243349.13 | protein_coding | 3994 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157746366 | CAG | C | intron_variant | MODIFIER | HG02257.hp1 HG02922.hp1 HG03098.hp1 others(4): Show |
a0001 | a0001c0004 | a0001c0004t0008a0001c0004t0009a0001c0004t0021 | a0001c0004t0008g0030 a0001c0004t0008g0110 a0001c0004t0008g0111 others(4): Show |
7 | 172 | 0.0407 | -2 | c.126 others(21): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157757043 | TAA | T | intron_variant | MODIFIER | HG00438.hp2 HG01255.hp1 HG01891.hp2 others(55): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0014a0001c0002t0001others(6): Show | a0001c0001t0001g0041 a0001c0001t0001g0047 a0001c0001t0001g0051 others(55): Show |
58 | 172 | 0.3372 | -2 | c.126 others(21): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 9/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157765480 | ACT | A | intron_variant | MODIFIER | HG00099.hp1 HG03927.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0080 a0001c0001t0013g0165 |
2 | 172 | 0.0116 | -2 | c.106 others(19): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 8/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157767033 | CTT | C | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02257.hp1 others(13): Show |
a0001 | a0001c0003a0001c0004a0001c0005 | a0001c0003t0001a0001c0003t0003a0001c0003t0004others(7): Show | a0001c0003t0001g0023 a0001c0003t0001g0136 a0001c0003t0003g0144 others(13): Show |
16 | 172 | 0.0930 | -2 | c.791 others(17): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 7/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157795377 | AAC | A | intron_variant | MODIFIER | HG02145.hp2 HG02976.hp2 HG03098.hp2 others(11): Show |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0002t0002a0001c0002t0004others(2): Show | a0001c0002t0001g0027 a0001c0002t0001g0028 a0001c0002t0001g0037 others(11): Show |
14 | 31 | 0.4516 | -2 | c.67+ others(17): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 3/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157819077 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(82): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(18): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(82): Show |
85 | 117 | 0.7265 | -2 | c.-18 others(19): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157819496 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(128): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0020 a0001c0001t0001g0040 a0001c0001t0001g0041 others(128): Show |
131 | 163 | 0.8037 | -2 | c.-18 others(19): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157823695 | AAT | A | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp2 HG02922.hp2 others(8): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0004a0001c0002t0018others(4): Show | a0001c0002t0001g0031 a0001c0002t0004g0169 a0001c0002t0004g0170 others(8): Show |
11 | 172 | 0.0640 | -2 | c.-18 others(21): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157840521 | CAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01168.hp2 HG01169.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0010a0001c0002t0005a0001c0002t0010others(3): Show | a0001c0001t0010g0003 a0001c0002t0005g0001 a0001c0002t0005g0006 others(5): Show |
8 | 172 | 0.0465 | -2 | c.-18 others(23): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157848315 | GAC | G | intron_variant | MODIFIER | HG00735.hp1 HG02004.hp1 HG03098.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0004a0001c0001t0013a0001c0002t0004others(3): Show | a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(5): Show |
8 | 172 | 0.0465 | -2 | c.-18 others(23): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157854199 | TAA | T | intron_variant | MODIFIER | HG00735.hp1 HG02004.hp1 HG02055.hp2 others(10): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0004a0001c0001t0013a0001c0002t0001others(6): Show | a0001c0001t0004g0164 a0001c0001t0013g0165 a0001c0001t0013g0166 others(10): Show |
13 | 100 | 0.1300 | -2 | c.-18 others(23): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157854425 | GAA | G | intron_variant | MODIFIER | HG01243.hp2 HG01255.hp2 HG01978.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0051 a0001c0001t0001g0056 a0001c0001t0002g0052 others(1): Show |
4 | 172 | 0.0233 | -2 | c.-18 others(23): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157855269 | AGT | A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG01978.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0127 a0001c0001t0002g0046 a0001c0001t0002g0058 others(13): Show |
16 | 99 | 0.1616 | -2 | c.-18 others(23): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157862422 | TAC | T | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02622.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0016others(8): Show | a0001c0001t0001g0082 a0001c0001t0002g0153 a0001c0001t0016g0152 others(14): Show |
17 | 40 | 0.4250 | -2 | c.-18 others(23): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157863011 | CTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(15): Show | a0001c0001t0001g0088 a0001c0001t0001g0093 a0001c0001t0001g0106 others(44): Show |
47 | 54 | 0.8704 | -2 | c.-18 others(23): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157863336 | CTT | C | intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00735.hp1 others(26): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0093 a0001c0001t0002g0092 a0001c0001t0002g0119 others(26): Show |
29 | 40 | 0.7250 | -2 | c.-18 others(23): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157865099 | GAA | G | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02622.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0011 | a0001c0002t0001g0025 a0001c0002t0001g0026 a0001c0002t0003g0156 others(2): Show |
5 | 33 | 0.1515 | -2 | c.-18 others(23): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157865795 | CAA | C | intron_variant | MODIFIER | HG01261.hp2 HG02109.hp1 HG02451.hp2 others(11): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0003t0001others(3): Show | a0001c0002t0001g0024 a0001c0002t0001g0098 a0001c0002t0001g0099 others(11): Show |
14 | 94 | 0.1489 | -2 | c.-18 others(22): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157867679 | GTT | G | intron_variant | MODIFIER | HG01261.hp2 HG02109.hp1 HG02451.hp2 others(9): Show |
a0001 | a0001c0002a0001c0004a0001c0005others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0004t0009others(2): Show | a0001c0002t0001g0098 a0001c0002t0001g0099 a0001c0002t0001g0100 others(9): Show |
12 | 20 | 0.6000 | -2 | c.-18 others(21): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157868484 | CAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01261.hp2 HG02055.hp1 others(18): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0003others(7): Show | a0001c0001t0002g0097 a0001c0002t0001g0024 a0001c0002t0001g0036 others(18): Show |
21 | 37 | 0.5676 | -2 | c.-18 others(21): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157875488 | AAC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(145): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(26): Show | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(145): Show |
148 | 165 | 0.8970 | -2 | c.-18 others(19): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR1_chr2_157731446_157881330 | 157878760 | AGT | A | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG01243.hp2 others(37): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0082 a0001c0001t0001g0108 a0001c0001t0001g0109 others(37): Show |
40 | 60 | 0.6667 | -2 | c.-31 others(13): Show |
ACVR1 | ENSG00000115170.16 | transcript | ENST00000434821.7 | protein_coding | 2431 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147845000 | GTT | G | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02486.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0018 a0001c0001t0001g0173 a0001c0001t0001g0193 others(2): Show |
6 | 64 | 0.0938 | -2 | c.-15 others(11): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 28 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147845348 | GCC | G | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp1 HG00733.hp2 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0281 a0001c0001t0001g0282 a0001c0001t0003g0002 others(26): Show |
38 | 84 | 0.4524 | -2 | c.55+ others(15): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147881602 | AGT | A | intron_variant | MODIFIER | HG02647.hp2 HG02809.hp2 NA20129.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0179 a0001c0001t0001g0182 a0001c0001t0001g0257 others(1): Show |
4 | 262 | 0.0153 | -2 | 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 | 147881641 | GTA | G | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG00642.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0013 a0001c0001t0001g0178 a0001c0001t0001g0184 others(19): Show |
23 | 336 | 0.0685 | -2 | 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 | 147882810 | CAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(136): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0005others(10): Show | a0001c0001t0001g0094 a0001c0002t0001g0004 a0001c0002t0001g0005 others(126): Show |
139 | 336 | 0.4137 | -2 | c.56- others(19): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147889382 | CAT | C | intron_variant | MODIFIER | HG00438.hp2 NA18943.hp2 NA18951.hp2 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0020 | a0001c0002t0001g0023 a0001c0002t0001g0039 a0001c0002t0001g0075 others(3): Show |
6 | 336 | 0.0179 | -2 | c.56- others(17): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147890341 | AGT | A | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG00673.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0182 a0001c0001t0001g0183 a0001c0001t0003g0002 others(31): Show |
43 | 68 | 0.6324 | -2 | c.56- others(17): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147910013 | CTT | C | intron_variant | MODIFIER | NA18994.hp2 NA19068.hp2 NA19085.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 a0001c0002t0001g0130 a0001c0002t0001g0133 |
3 | 336 | 0.0089 | -2 | c.529 others(19): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 4/10 | chr2 | TogoVar | |||||||
ACVR2A_chr2_147840029_147935822 | 147913822 | CAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(215): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0014 a0001c0001t0001g0016 a0001c0001t0001g0017 others(198): Show |
218 | 234 | 0.9316 | -2 | c.529 others(19): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2A_chr2_147840029_147935822 | 147926344 | TAA | T | intron_variant | MODIFIER | HG00738.hp1 HG01175.hp1 HG01928.hp2 others(10): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0007 | a0001c0002t0001g0026 a0001c0002t0001g0027 a0001c0002t0001g0028 others(10): Show |
13 | 336 | 0.0387 | -2 | c.134 others(19): Show |
ACVR2A | ENSG00000121989.15 | transcript | ENST00000241416.12 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ACVR2B_chr3_38448890_38498142 | 38484675 | CAA | C | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(104): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0004a0001c0002t0005others(22): Show | a0001c0002t0001g0001 a0001c0002t0001g0016 a0001c0002t0001g0023 others(53): Show |
107 | 408 | 0.2623 | -2 | c.*13 others(13): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 1346 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACVR2B_chr3_38448890_38498142 | 38485666 | CTT | C | 3_prime_UTR_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG02622.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0064a0001c0001t0065a0001c0001t0066others(3): Show | a0001c0001t0064g0017 a0001c0001t0065g0017 a0001c0001t0066g0017 others(3): Show |
6 | 118 | 0.0508 | -2 | c.*23 others(13): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 2360 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACVR2B_chr3_38448890_38498142 | 38492731 | TAC | T | 3_prime_UTR_variant | MODIFIER | HG00558.hp1 HG02809.hp1 NA18948.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0114a0001c0001t0123 | a0001c0001t0023g0005 a0001c0001t0023g0063 a0001c0001t0023g0090 others(2): Show |
5 | 140 | 0.0357 | -2 | c.*94 others(13): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9471 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACVR2B_chr3_38448890_38498142 | 38492803 | CAT | C | 3_prime_UTR_variant | MODIFIER | NA18963.hp2 NA19057.hp1 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0017 | a0001c0001t0002g0006 a0001c0001t0009g0086 a0001c0001t0017g0008 |
3 | 387 | 0.0078 | -2 | c.*94 others(13): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 11/11 | 9473 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ACVR2B_chr3_38448890_38498142 | 38497604 | CTT | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(235): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(111): Show | a0001c0001t0002g0004 a0001c0001t0002g0006 a0001c0001t0002g0008 others(177): Show |
238 | 361 | 0.6593 | -2 | c.*14 others(15): Show |
ACVR2B | ENSG00000114739.14 | transcript | ENST00000352511.5 | protein_coding | 4463 | chr3 | TogoVar | |||||||
ACVRL1_chr12_51902504_51928361 | 51919363 | CTG | C | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00733.hp2 others(52): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0014 a0001c0001t0001g0028 a0001c0001t0001g0071 others(20): Show |
55 | 205 | 0.2683 | -2 | c.137 others(19): Show |
ACVRL1 | ENSG00000139567.13 | transcript | ENST00000388922.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACY1_chr3_51978535_51994197 | 51981894 | CAA | C | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00673.hp1 others(20): Show |
a0001a0006a0007 | a0001c0001a0006c0006a0007c0008 | a0001c0001t0001a0006c0006t0001a0007c0008t0001 | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(5): Show |
23 | 66 | 0.3485 | -2 | c.-17 others(13): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 1640 | chr3 | TogoVar | |||||||
ACY1_chr3_51978535_51994197 | 51989986 | CTT | C | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG01884.hp1 others(16): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0007 others(5): Show |
19 | 85 | 0.2235 | -2 | c.*91 others(11): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 790 | chr3 | TogoVar | |||||||
ACY1_chr3_51978535_51994197 | 51992985 | CAA | C | downstream_gene_variant | MODIFIER | HG02896.hp2 HG02897.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 3 | 336 | 0.0089 | -2 | c.*39 others(13): Show |
ACY1 | ENSG00000243989.9 | transcript | ENST00000636358.2 | protein_coding | 3789 | chr3 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67644732 | CCA | C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00639.hp1 others(52): Show |
a0002a0003a0004 | a0002c0002a0002c0003a0003c0004others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(6): Show | a0002c0002t0001g0060 a0002c0002t0002g0041 a0002c0002t0002g0133 others(26): Show |
55 | 100 | 0.5500 | -2 | c.744 others(15): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 7/7 | chr11 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67649826 | ATG | A | intron_variant | MODIFIER | HG02602.hp1 HG03492.hp1 HG03669.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0069 a0001c0001t0001g0074 others(1): Show |
4 | 394 | 0.0102 | -2 | c.-95 others(17): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67651731 | CAA | C | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG01891.hp2 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0091 a0001c0001t0004g0050 a0001c0001t0004g0052 others(4): Show |
8 | 64 | 0.1250 | -2 | c.-12 others(13): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 1002 | chr11 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67652014 | CAA | C | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00423.hp1 others(50): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(24): Show |
53 | 62 | 0.8548 | -2 | c.-15 others(13): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 1285 | chr11 | TogoVar | |||||||
ACY3_chr11_67637555_67655730 | 67655019 | CTT | C | upstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02056.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005others(1): Show | a0001c0001t0004a0002c0002t0003a0002c0002t0004others(2): Show | a0001c0001t0004g0054 a0002c0002t0003g0028 a0002c0002t0004g0029 others(3): Show |
9 | 350 | 0.0257 | -2 | c.-45 others(13): Show |
ACY3 | ENSG00000132744.8 | transcript | ENST00000255082.8 | protein_coding | 4290 | chr11 | TogoVar | |||||||
ACYP1_chr14_75048243_75069024 | 75051937 | CTT | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00639.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0014 a0001c0001t0001g0019 others(14): Show |
28 | 57 | 0.4912 | -2 | c.*15 others(13): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 1305 | chr14 | TogoVar | |||||||
ACYP1_chr14_75048243_75069024 | 75055079 | CTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(266): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(51): Show |
269 | 278 | 0.9676 | -2 | c.85- others(17): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar | |||||||
ACYP1_chr14_75048243_75069024 | 75062101 | CAA | C | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02630.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0019 a0001c0001t0001g0024 others(2): Show |
11 | 25 | 0.4400 | -2 | c.84+ others(17): Show |
ACYP1 | ENSG00000119640.9 | transcript | ENST00000238618.8 | protein_coding | 2/2 | chr14 | TogoVar |