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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABR_chr17_998519_1184981 | 1083262 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01891.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0179 a0001c0001t0001g0227 a0001c0001t0002g0144 others(20): Show |
23 | 160 | 0.1438 | -8 | c.639 others(23): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 5/22 | chr17 | TogoVar | |||||||
ABTB1_chr3_127667952_127685926 | 127668101 | CGTGTGTG others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00597.hp1 HG00733.hp1 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0001 a0001c0001t0001g0020 a0001c0001t0001g0030 others(4): Show |
35 | 132 | 0.2652 | -8 | c.-49 others(19): Show |
ABTB1 | ENSG00000114626.18 | transcript | ENST00000232744.13 | protein_coding | 4850 | chr3 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34172437 | TATAGATA others(1): Show |
T | intron_variant | MODIFIER | HG01433.hp1 NA19240.hp1 NA21309.hp2 |
a0001a0003 | a0001c0001a0001c0005a0003c0003 | a0001c0001t0003a0001c0005t0004a0003c0003t0008 | a0001c0001t0003g0178 a0001c0005t0004g0069 a0003c0003t0008g0148 |
3 | 139 | 0.0216 | -8 | c.139 others(25): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 4/16 | chr11 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34214532 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02451.hp1 HG02486.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0019others(8): Show | a0001c0001t0001g0061 a0001c0001t0001g0097 a0001c0001t0001g0151 others(13): Show |
16 | 140 | 0.1143 | -8 | c.884 others(25): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34271734 | AATACATA others(1): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01175.hp2 HG01255.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0015others(3): Show | a0001c0001t0001g0010 a0001c0001t0001g0028 a0001c0001t0001g0068 others(11): Show |
14 | 149 | 0.0940 | -8 | c.884 others(27): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34274158 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01496.hp1 HG02615.hp1 HG02622.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0004t0009others(2): Show | a0001c0001t0001g0061 a0001c0001t0001g0097 a0001c0001t0001g0155 others(6): Show |
9 | 124 | 0.0726 | -8 | c.884 others(27): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34342920 | CATTTATT others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(44): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0002 | a0001c0001t0001a0001c0007t0001a0002c0002t0002others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(44): Show |
47 | 86 | 0.5465 | -8 | c.883 others(27): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 1/16 | chr11 | TogoVar | |||||||
ABTB2_chr11_34145987_34363010 | 34360525 | AATATATA others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02818.hp2 HG03130.hp1 HG03516.hp2 others(2): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0003 | a0001c0001t0001a0001c0007t0001a0003c0003t0001 | a0001c0001t0001g0004 a0001c0001t0001g0051 a0001c0001t0001g0084 others(2): Show |
5 | 118 | 0.0424 | -8 | c.-29 others(19): Show |
ABTB2 | ENSG00000166016.6 | transcript | ENST00000435224.3 | protein_coding | 2516 | chr11 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107313835 | CACAGAGA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02486.hp2 HG03130.hp1 |
a0001 | a0001c0003a0001c0030 | a0001c0003t0002a0001c0030t0002 | a0001c0003t0002g0095 a0001c0030t0002g0104 |
2 | 164 | 0.0122 | -8 | c.-51 others(19): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 4598 | chr12 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107321624 | CACACACA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(80): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0011others(14): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0030others(28): Show | a0001c0001t0002g0042 a0001c0001t0002g0078 a0001c0001t0002g0082 others(80): Show |
83 | 182 | 0.4560 | -8 | c.113 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | chr12 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107335286 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp2 HG02698.hp1 others(7): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0011a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0008 a0001c0001t0002g0093 a0001c0001t0004g0061 others(7): Show |
10 | 32 | 0.3125 | -8 | c.113 others(29): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107340669 | TCGATTAA others(1): Show |
T | intron_variant | MODIFIER | HG02615.hp2 NA20129.hp1 |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0014a0003c0008t0011 | a0001c0001t0014g0154 a0003c0008t0011g0153 |
2 | 186 | 0.0108 | -8 | c.113 others(29): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | chr12 | TogoVar | |||||||
ABTB3_chr12_107313434_107664642 | 107377414 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02109.hp1 HG02622.hp2 HG02647.hp2 others(3): Show |
a0002a0003a0004others(1): Show | a0002c0002a0002c0015a0003c0004others(2): Show | a0002c0002t0036a0002c0015t0007a0003c0004t0011others(3): Show | a0002c0002t0036g0170 a0002c0015t0007g0166 a0003c0004t0011g0155 others(3): Show |
6 | 13 | 0.4615 | -8 | c.113 others(29): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107389838 | GTGTGTGT others(1): Show |
G | intron_variant | MODIFIER | HG01257.hp1 HG02965.hp1 HG02976.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0001c0030a0002c0002others(2): Show | a0001c0001t0002a0001c0030t0002a0002c0002t0007others(2): Show | a0001c0001t0002g0042 a0001c0001t0002g0098 a0001c0030t0002g0104 others(3): Show |
6 | 186 | 0.0323 | -8 | c.113 others(29): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107389846 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp2 others(43): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0002c0002others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0021others(32): Show | a0001c0001t0001g0006 a0001c0001t0001g0016 a0001c0001t0002g0082 others(43): Show |
46 | 74 | 0.6216 | -8 | c.113 others(29): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107452202 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp1 HG02622.hp2 others(13): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0011a0001c0012others(6): Show | a0001c0001t0002a0001c0001t0006a0001c0011t0004others(11): Show | a0001c0001t0002g0082 a0001c0001t0002g0093 a0001c0001t0002g0098 others(13): Show |
16 | 96 | 0.1667 | -8 | c.113 others(29): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107464206 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG01074.hp1 others(25): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0010 others(25): Show |
28 | 35 | 0.8000 | -8 | c.113 others(29): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107469920 | TTCTCTCT others(1): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG03579.hp2 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0006 | a0001c0001t0002g0083 a0001c0001t0004g0031 a0001c0001t0006g0089 |
3 | 181 | 0.0166 | -8 | c.113 others(29): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107469942 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG01109.hp2 HG01257.hp2 HG01993.hp2 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0003a0002c0002a0004c0005others(1): Show | a0001c0003t0005a0002c0002t0001a0004c0005t0008others(1): Show | a0001c0003t0005g0136 a0002c0002t0001g0118 a0002c0002t0001g0120 others(2): Show |
5 | 163 | 0.0307 | -8 | c.113 others(29): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107481883 | GTCTCTCT others(1): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02647.hp2 HG03041.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0011a0002c0002 | a0001c0001t0002a0001c0001t0006a0001c0011t0031others(1): Show | a0001c0001t0002g0152 a0001c0001t0006g0102 a0001c0011t0031g0075 others(1): Show |
4 | 20 | 0.2000 | -8 | c.113 others(29): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107482913 | CTTCTTTC others(1): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG02280.hp2 HG03130.hp1 others(2): Show |
a0001a0007 | a0001c0001a0001c0011a0001c0012others(2): Show | a0001c0001t0002a0001c0011t0006a0001c0012t0001others(2): Show | a0001c0001t0002g0105 a0001c0011t0006g0101 a0001c0012t0001g0062 others(2): Show |
5 | 168 | 0.0298 | -8 | c.113 others(29): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107482981 | TTTCTTTC others(1): Show |
T | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp1 HG01257.hp2 others(16): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0002g0108 others(16): Show |
19 | 168 | 0.1131 | -8 | c.113 others(29): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107482985 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02074.hp2 HG02109.hp1 others(11): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0011others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(7): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0037 others(11): Show |
14 | 163 | 0.0859 | -8 | c.113 others(29): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107501394 | AAAAACAA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(70): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0011others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0026 others(70): Show |
73 | 186 | 0.3925 | -8 | c.113 others(29): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107508066 | AGATGGAT others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp1 others(43): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0011others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(26): Show | a0001c0001t0001g0008 a0001c0001t0002g0042 a0001c0001t0002g0082 others(43): Show |
46 | 119 | 0.3866 | -8 | c.113 others(29): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107508438 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG01081.hp1 HG01109.hp1 HG01109.hp2 others(14): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0012others(6): Show | a0001c0001t0003a0001c0003t0006a0001c0012t0027others(10): Show | a0001c0001t0003g0029 a0001c0003t0006g0148 a0001c0012t0027g0023 others(14): Show |
17 | 58 | 0.2931 | -8 | c.113 others(29): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107521263 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00621.hp1 others(37): Show |
a0001a0003a0005others(5): Show | a0001c0003a0003c0004a0003c0006others(10): Show | a0001c0003t0006a0003c0004t0001a0003c0004t0002others(22): Show | a0001c0003t0006g0148 a0003c0004t0001g0022 a0003c0004t0001g0024 others(37): Show |
40 | 52 | 0.7692 | -8 | c.128 others(25): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107525324 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG02056.hp1 HG02074.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(3): Show | a0001c0001t0001g0004 a0001c0001t0003g0015 a0001c0003t0002g0159 others(3): Show |
6 | 78 | 0.0769 | -8 | c.128 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107564088 | CTCTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG03041.hp2 |
a0001a0003 | a0001c0011a0003c0006 | a0001c0011t0031a0003c0006t0005 | a0001c0011t0031g0075 a0003c0006t0005g0132 |
2 | 146 | 0.0137 | -8 | c.149 others(29): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ABTB3_chr12_107313434_107664642 | 107637786 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp2 others(39): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0002c0002others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0008 a0001c0001t0001g0014 a0001c0001t0001g0065 others(39): Show |
42 | 60 | 0.7000 | -8 | c.273 others(27): Show |
ABTB3 | ENSG00000151136.15 | transcript | ENST00000280758.10 | protein_coding | 12/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACAA2_chr18_49777164_49818533 | 49786139 | TCTTTCCT others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0176 a0001c0001t0004g0184 a0001c0001t0004g0186 |
3 | 432 | 0.0069 | -8 | c.955 others(23): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 8/9 | chr18 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37103722 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01358.hp2 HG02647.hp2 others(2): Show |
a0001 | a0001c0004 | a0001c0004t0005a0001c0004t0030a0001c0004t0032 | a0001c0004t0005g0044 a0001c0004t0005g0125 a0001c0004t0005g0276 others(2): Show |
5 | 87 | 0.0575 | -8 | c.656 others(27): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 52/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37119589 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00673.hp1 HG00738.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0002t0001 | a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0198 others(16): Show |
19 | 54 | 0.3519 | -8 | c.627 others(27): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 50/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37173982 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | NA18946.hp1 NA19074.hp1 NA19076.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0085 a0001c0002t0001g0258 a0001c0002t0001g0287 |
3 | 244 | 0.0123 | -8 | c.507 others(27): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 41/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37202708 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG01099.hp2 HG01167.hp1 HG01192.hp1 others(17): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(3): Show | a0001c0001t0001g0139 a0001c0002t0001g0085 a0001c0002t0001g0253 others(17): Show |
20 | 298 | 0.0671 | -8 | c.405 others(27): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 33/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37213348 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG01358.hp2 HG01884.hp1 others(11): Show |
a0001a0003 | a0001c0001a0001c0004a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0004t0005others(4): Show | a0001c0001t0001g0180 a0001c0001t0001g0187 a0001c0001t0010g0094 others(11): Show |
14 | 148 | 0.0946 | -8 | c.368 others(27): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 29/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37217757 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00733.hp1 HG01358.hp2 HG02647.hp2 others(6): Show |
a0001a0003 | a0001c0004a0001c0006a0003c0008 | a0001c0004t0005a0001c0004t0030a0001c0004t0032others(2): Show | a0001c0004t0005g0044 a0001c0004t0005g0119 a0001c0004t0005g0125 others(6): Show |
9 | 298 | 0.0302 | -8 | c.368 others(27): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 29/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37230387 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02004.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0008others(3): Show | a0001c0001t0001g0180 a0001c0002t0001g0080 a0001c0002t0001g0133 others(20): Show |
23 | 91 | 0.2527 | -8 | c.324 others(27): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 25/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37248909 | GCACAGTT others(1): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02622.hp1 HG03041.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017 | a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0082 others(3): Show |
6 | 298 | 0.0201 | -8 | c.208 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 16/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37260249 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG03704.hp2 others(6): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0002t0021others(2): Show | a0001c0002t0001g0064 a0001c0002t0001g0154 a0001c0002t0001g0269 others(6): Show |
9 | 239 | 0.0377 | -8 | c.133 others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 11/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37268741 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG02698.hp1 HG03130.hp1 HG04184.hp2 |
a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0092 a0001c0003t0003g0238 a0001c0003t0003g0279 |
3 | 193 | 0.0155 | -8 | c.111 others(27): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 10/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37316302 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02809.hp2 HG03139.hp2 others(1): Show |
a0001 | a0001c0004a0001c0006 | a0001c0004t0005a0001c0006t0005 | a0001c0004t0005g0118 a0001c0004t0005g0119 a0001c0004t0005g0277 others(1): Show |
4 | 147 | 0.0272 | -8 | c.338 others(27): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37317078 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00438.hp1 others(52): Show |
a0001a0002 | a0001c0003a0001c0012a0002c0013 | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(6): Show | a0001c0003t0001g0055 a0001c0003t0001g0057 a0001c0003t0001g0059 others(52): Show |
55 | 298 | 0.1846 | -8 | c.338 others(27): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 3/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37342406 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG01891.hp1 HG02622.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0017a0001c0003t0001 | a0001c0001t0003g0051 a0001c0001t0003g0052 a0001c0001t0003g0082 others(4): Show |
7 | 167 | 0.0419 | -8 | c.39- others(23): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37377659 | CAATAAAT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00558.hp2 others(56): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(12): Show | a0001c0001t0001g0099 a0001c0001t0001g0187 a0001c0001t0003g0045 others(56): Show |
59 | 173 | 0.3410 | -8 | c.38+ others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACA_chr17_37079992_37411836 | 37390140 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00438.hp2 others(107): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(22): Show | a0001c0001t0001g0185 a0001c0001t0001g0187 a0001c0001t0001g0193 others(107): Show |
110 | 245 | 0.4490 | -8 | c.38+ others(25): Show |
ACACA | ENSG00000278540.5 | transcript | ENST00000616317.5 | protein_coding | 1/55 | chr17 | TogoVar | |||||||
ACACB_chr12_109111587_109273226 | 109140256 | ATCCTTCC others(1): Show |
A | intron_variant | MODIFIER | HG00323.hp1 HG02523.hp1 HG02809.hp1 others(4): Show |
a0004a0006a0008others(1): Show | a0004c0008a0006c0026a0006c0031others(2): Show | a0004c0008t0001a0006c0026t0002a0006c0026t0016others(3): Show | a0004c0008t0001g0198 a0006c0026t0002g0155 a0006c0026t0002g0156 others(4): Show |
7 | 225 | 0.0311 | -8 | c.653 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109140263 | CTTCCTTC others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG02572.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0062a0002c0006 | a0001c0002t0001a0001c0062t0019a0002c0006t0003others(2): Show | a0001c0002t0001g0035 a0001c0062t0019g0286 a0002c0006t0003g0111 others(2): Show |
5 | 220 | 0.0227 | -8 | c.653 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109140271 | TTTCCTTC others(1): Show |
T | intron_variant | MODIFIER | HG01070.hp2 HG01123.hp1 HG01255.hp2 others(12): Show |
a0001a0002a0030 | a0001c0018a0001c0022a0002c0007others(2): Show | a0001c0018t0002a0001c0018t0011a0001c0022t0004others(5): Show | a0001c0018t0002g0050 a0001c0018t0002g0051 a0001c0018t0011g0048 others(12): Show |
15 | 150 | 0.1000 | -8 | c.653 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 2/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
ACACB_chr12_109111587_109273226 | 109167621 | GTATATAT others(1): Show |
G | intron_variant | MODIFIER | HG01081.hp1 HG01168.hp1 HG01169.hp2 |
a0012a0018 | a0012c0033a0018c0065 | a0012c0033t0002a0018c0065t0005 | a0012c0033t0002g0185 a0012c0033t0002g0189 a0018c0065t0005g0225 |
3 | 94 | 0.0319 | -8 | c.787 others(23): Show |
ACACB | ENSG00000076555.16 | transcript | ENST00000338432.12 | protein_coding | 3/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |