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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA12_chr2_214926542_215143626 | 215065297 | T | TA | intron_variant | MODIFIER | HG02055.hp2 HG02132.hp1 HG02647.hp2 others(4): Show |
a0001a0003 | a0001c0003a0001c0006a0001c0012others(4): Show | a0001c0003t0001a0001c0006t0002a0001c0012t0004others(4): Show | a0001c0003t0001g0043 a0001c0006t0002g0123 a0001c0012t0004g0064 others(4): Show |
7 | 34 | 0.2059 | 1 | c.164 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215069225 | A | AT | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02257.hp1 others(13): Show |
a0001a0003a0007 | a0001c0015a0003c0014a0003c0020others(4): Show | a0001c0015t0007a0001c0015t0009a0003c0014t0002others(8): Show | a0001c0015t0007g0009 a0001c0015t0007g0013 a0001c0015t0009g0006 others(13): Show |
16 | 196 | 0.0816 | 1 | c.164 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215075332 | A | AT | intron_variant | MODIFIER | HG01243.hp1 HG02451.hp2 NA19240.hp2 others(1): Show |
a0004a0009 | a0004c0018a0004c0060a0009c0028 | a0004c0018t0021a0004c0060t0006a0009c0028t0003 | a0004c0018t0021g0082 a0004c0060t0006g0080 a0009c0028t0003g0081 others(1): Show |
4 | 196 | 0.0204 | 1 | c.164 others(10): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215082043 | C | CT | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00735.hp1 others(112): Show |
a0001a0002a0004others(12): Show | a0001c0001a0001c0002a0001c0003others(44): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(68): Show | a0001c0001t0002g0025 a0001c0001t0002g0059 a0001c0001t0002g0066 others(112): Show |
115 | 123 | 0.9350 | 1 | c.164 others(10): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215085088 | C | CA | intron_variant | MODIFIER | HG00140.hp2 HG00735.hp2 HG00741.hp1 others(54): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0003others(25): Show | a0001c0001t0002a0001c0001t0013a0001c0002t0001others(32): Show | a0001c0001t0002g0059 a0001c0001t0002g0154 a0001c0001t0013g0044 others(54): Show |
57 | 156 | 0.3654 | 1 | c.164 others(10): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215095923 | C | CT | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02109.hp2 others(16): Show |
a0001a0003a0004others(1): Show | a0001c0010a0001c0022a0003c0014others(8): Show | a0001c0010t0004a0001c0022t0019a0003c0014t0002others(11): Show | a0001c0010t0004g0113 a0001c0010t0004g0114 a0001c0022t0019g0014 others(16): Show |
19 | 196 | 0.0969 | 1 | c.163 others(10): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215097325 | C | CT | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02109.hp2 others(16): Show |
a0001a0003a0004others(1): Show | a0001c0010a0001c0022a0003c0014others(8): Show | a0001c0010t0004a0001c0022t0019a0003c0014t0002others(11): Show | a0001c0010t0004g0113 a0001c0010t0004g0114 a0001c0022t0019g0014 others(16): Show |
19 | 196 | 0.0969 | 1 | c.163 others(10): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215100016 | C | CT | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02257.hp1 others(10): Show |
a0003a0004a0007 | a0003c0014a0003c0020a0003c0065others(4): Show | a0003c0014t0002a0003c0014t0006a0003c0020t0001others(6): Show | a0003c0014t0002g0101 a0003c0014t0006g0098 a0003c0014t0006g0102 others(10): Show |
13 | 156 | 0.0833 | 1 | c.163 others(10): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215103263 | C | CT | intron_variant | MODIFIER | HG02622.hp1 HG02922.hp1 HG03225.hp2 others(1): Show |
a0001a0002 | a0001c0006a0001c0012a0002c0007others(1): Show | a0001c0006t0005a0001c0012t0014a0002c0007t0004others(1): Show | a0001c0006t0005g0152 a0001c0012t0014g0097 a0002c0007t0004g0149 others(1): Show |
4 | 159 | 0.0252 | 1 | c.163 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215103267 | C | CT | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(97): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(26): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0020others(42): Show | a0001c0001t0002g0032 a0001c0001t0002g0059 a0001c0001t0002g0066 others(97): Show |
100 | 130 | 0.7692 | 1 | c.163 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215103985 | T | TA | intron_variant | MODIFIER | HG01975.hp2 HG02109.hp2 HG02280.hp1 others(8): Show |
a0001a0002 | a0001c0005a0001c0006a0001c0010others(4): Show | a0001c0005t0003a0001c0005t0005a0001c0006t0005others(6): Show | a0001c0005t0003g0077 a0001c0005t0005g0075 a0001c0006t0005g0152 others(8): Show |
11 | 196 | 0.0561 | 1 | c.163 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215106748 | C | CA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00741.hp2 others(48): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0020others(31): Show | a0001c0001t0002g0116 a0001c0001t0002g0117 a0001c0001t0002g0119 others(48): Show |
51 | 176 | 0.2898 | 1 | c.163 others(9): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215112333 | A | AT | intron_variant | MODIFIER | HG01106.hp2 HG01255.hp2 HG01258.hp2 others(39): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(24): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(30): Show | a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0116 others(39): Show |
42 | 157 | 0.2675 | 1 | c.70- others(7): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215112495 | T | TG | intron_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG01071.hp1 others(17): Show |
a0001a0002a0005others(2): Show | a0001c0002a0001c0003a0001c0004others(9): Show | a0001c0002t0022a0001c0003t0001a0001c0004t0001others(10): Show | a0001c0002t0022g0148 a0001c0003t0001g0166 a0001c0004t0001g0091 others(17): Show |
20 | 196 | 0.1020 | 1 | c.70- others(14): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215112521 | C | CA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(117): Show |
a0001a0002a0005others(6): Show | a0001c0001a0001c0002a0001c0003others(32): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0013others(52): Show | a0001c0001t0002g0032 a0001c0001t0002g0035 a0001c0001t0002g0059 others(117): Show |
120 | 196 | 0.6122 | 1 | c.70- others(7): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215119764 | C | CA | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02257.hp1 others(13): Show |
a0001a0002a0003others(2): Show | a0001c0005a0002c0007a0003c0014others(5): Show | a0001c0005t0005a0002c0007t0002a0003c0014t0002others(7): Show | a0001c0005t0005g0109 a0001c0005t0005g0110 a0001c0005t0005g0111 others(13): Show |
16 | 158 | 0.1013 | 1 | c.70- others(8): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215128649 | A | AT | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02109.hp1 others(31): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0009others(20): Show | a0001c0001t0012a0001c0004t0010a0001c0009t0008others(24): Show | a0001c0001t0012g0191 a0001c0001t0012g0192 a0001c0004t0010g0198 others(31): Show |
34 | 196 | 0.1735 | 1 | c.69+ others(8): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215130236 | A | AT | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02055.hp2 others(33): Show |
a0001a0002a0003others(3): Show | a0001c0005a0001c0010a0001c0012others(16): Show | a0001c0005t0005a0001c0010t0009a0001c0012t0014others(21): Show | a0001c0005t0005g0109 a0001c0005t0005g0110 a0001c0005t0005g0111 others(33): Show |
36 | 172 | 0.2093 | 1 | c.69+ others(8): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215130936 | G | GT | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG01123.hp2 others(53): Show |
a0001a0002a0003others(7): Show | a0001c0004a0001c0005a0001c0010others(27): Show | a0001c0004t0001a0001c0005t0003a0001c0005t0005others(35): Show | a0001c0004t0001g0091 a0001c0004t0001g0092 a0001c0005t0003g0077 others(53): Show |
56 | 196 | 0.2857 | 1 | c.69+ others(8): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215133149 | A | AT | intron_variant | MODIFIER | HG01106.hp2 HG02615.hp2 HG03098.hp2 others(3): Show |
a0001a0003a0016 | a0001c0003a0001c0005a0001c0012others(2): Show | a0001c0003t0006a0001c0005t0001a0001c0005t0005others(3): Show | a0001c0003t0006g0048 a0001c0005t0001g0124 a0001c0005t0005g0167 others(3): Show |
6 | 35 | 0.1714 | 1 | c.69+ others(8): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215136458 | G | GT | intron_variant | MODIFIER | HG02717.hp2 HG02895.hp1 HG02897.hp2 others(2): Show |
a0001a0002a0004others(1): Show | a0001c0025a0002c0017a0004c0061others(1): Show | a0001c0025t0015a0002c0017t0016a0004c0061t0015others(1): Show | a0001c0025t0015g0182 a0002c0017t0016g0179 a0002c0017t0016g0180 others(2): Show |
5 | 196 | 0.0255 | 1 | c.69+ others(8): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215138559 | G | GA | 5_prime_UTR_variant | MODIFIER | HG02615.hp2 HG02717.hp2 HG02738.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0025a0002c0017others(2): Show | a0001c0002t0024a0001c0025t0015a0002c0017t0016others(2): Show | a0001c0002t0024g0178 a0001c0025t0015g0182 a0002c0017t0016g0179 others(3): Show |
6 | 168 | 0.0357 | 1 | c.-35 others(5): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/53 | 352 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 215139849 | C | CA | upstream_gene_variant | MODIFIER | HG02615.hp2 HG02717.hp2 HG02895.hp1 others(2): Show |
a0001a0002a0003others(1): Show | a0001c0025a0002c0017a0003c0067others(1): Show | a0001c0025t0015a0002c0017t0016a0003c0067t0025others(1): Show | a0001c0025t0015g0182 a0002c0017t0016g0179 a0002c0017t0016g0180 others(2): Show |
5 | 171 | 0.0292 | 1 | c.-16 others(12): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1224 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215142546 | C | CT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00423.hp2 others(112): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0002a0001c0003others(39): Show | a0001c0001t0002a0001c0001t0020a0001c0002t0001others(57): Show | a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0035 others(112): Show |
115 | 154 | 0.7468 | 1 | c.-43 others(12): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 3921 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48166821 | C | CA | upstream_gene_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01074.hp1 others(30): Show |
a0001a0002a0004others(19): Show | a0001c0001a0002c0002a0002c0022others(25): Show | a0001c0001t0004a0002c0002t0002a0002c0022t0004others(27): Show | a0001c0001t0004g0164 a0002c0002t0002g0156 a0002c0002t0002g0167 others(30): Show |
33 | 131 | 0.2519 | 1 | c.-46 others(12): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 4636 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48166998 | G | GA | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01123.hp1 others(7): Show |
a0001a0003a0060 | a0001c0001a0003c0003a0003c0004others(1): Show | a0001c0001t0001a0003c0003t0004a0003c0004t0001others(3): Show | a0001c0001t0001g0027 a0003c0003t0004g0028 a0003c0003t0004g0029 others(7): Show |
10 | 176 | 0.0568 | 1 | c.-44 others(12): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 4459 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48172797 | C | CA | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG03139.hp2 others(3): Show |
a0001a0020a0028others(3): Show | a0001c0001a0020c0020a0028c0028others(3): Show | a0001c0001t0001a0020c0020t0001a0028c0028t0003others(3): Show | a0001c0001t0001g0004 a0020c0020t0001g0007 a0028c0028t0003g0005 others(3): Show |
6 | 11 | 0.5455 | 1 | c.69+ others(8): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48180587 | A | AT | intron_variant | MODIFIER | HG02145.hp2 HG02895.hp2 HG02976.hp2 others(2): Show |
a0015a0023a0024others(1): Show | a0015c0019a0023c0015a0024c0014others(1): Show | a0015c0019t0002a0023c0015t0004a0024c0014t0010others(1): Show | a0015c0019t0002g0175 a0023c0015t0004g0173 a0023c0015t0004g0176 others(2): Show |
5 | 175 | 0.0286 | 1 | c.69+ others(8): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48181557 | C | CA | intron_variant | MODIFIER | HG00558.hp2 HG01167.hp2 HG01952.hp2 others(9): Show |
a0001a0004a0005others(8): Show | a0001c0001a0004c0009a0005c0007others(9): Show | a0001c0001t0006a0004c0009t0001a0005c0007t0003others(9): Show | a0001c0001t0006g0178 a0004c0009t0001g0115 a0005c0007t0003g0121 others(9): Show |
12 | 173 | 0.0694 | 1 | c.69+ others(18): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48187268 | C | CT | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp2 HG00741.hp2 others(43): Show |
a0001a0002a0005others(29): Show | a0001c0001a0002c0002a0002c0065others(35): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(36): Show | a0001c0001t0001g0133 a0002c0002t0001g0131 a0002c0002t0004g0106 others(43): Show |
46 | 172 | 0.2674 | 1 | c.70- others(8): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48191073 | A | AT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(62): Show |
a0001a0002a0004others(39): Show | a0001c0001a0002c0002a0002c0022others(48): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(53): Show | a0001c0001t0001g0133 a0001c0001t0006g0178 a0002c0002t0001g0131 others(62): Show |
65 | 176 | 0.3693 | 1 | c.70- others(8): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48192933 | A | AT | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01074.hp1 others(21): Show |
a0001a0002a0004others(14): Show | a0001c0001a0002c0002a0002c0022others(17): Show | a0001c0001t0002a0001c0001t0004a0002c0002t0002others(21): Show | a0001c0001t0002g0058 a0001c0001t0004g0164 a0002c0002t0002g0167 others(21): Show |
24 | 170 | 0.1412 | 1 | c.70- others(6): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48202491 | C | CA | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(48): Show |
a0001a0002a0004others(32): Show | a0001c0001a0002c0002a0002c0022others(38): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(42): Show | a0001c0001t0001g0133 a0001c0001t0006g0178 a0002c0002t0001g0131 others(48): Show |
51 | 176 | 0.2898 | 1 | c.287 others(18): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 3/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48203236 | A | AC | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01074.hp1 others(21): Show |
a0001a0002a0004others(14): Show | a0001c0001a0002c0002a0002c0022others(17): Show | a0001c0001t0004a0002c0002t0002a0002c0022t0004others(20): Show | a0001c0001t0004g0164 a0002c0002t0002g0156 a0002c0002t0002g0167 others(21): Show |
24 | 176 | 0.1364 | 1 | c.287 others(9): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 3/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48206613 | A | AC | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01074.hp1 others(21): Show |
a0001a0002a0004others(14): Show | a0001c0001a0002c0002a0002c0022others(17): Show | a0001c0001t0004a0002c0002t0002a0002c0022t0004others(20): Show | a0001c0001t0004g0164 a0002c0002t0002g0156 a0002c0002t0002g0167 others(21): Show |
24 | 176 | 0.1364 | 1 | c.287 others(18): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 3/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48217777 | C | CT | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03486.hp1 |
a0026a0069 | a0026c0027a0069c0086 | a0026c0027t0001a0026c0027t0006a0069c0086t0009 | a0026c0027t0001g0161 a0026c0027t0006g0162 a0069c0086t0009g0160 |
3 | 176 | 0.0170 | 1 | c.288 others(9): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 3/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48223958 | C | CA | intron_variant | MODIFIER | HG00558.hp1 HG01952.hp1 HG02280.hp2 others(10): Show |
a0009a0015a0016others(9): Show | a0009c0017a0015c0047a0016c0029others(9): Show | a0009c0017t0002a0015c0047t0001a0016c0029t0004others(10): Show | a0009c0017t0002g0052 a0015c0047t0001g0155 a0016c0029t0004g0071 others(10): Show |
13 | 107 | 0.1215 | 1 | c.468 others(9): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48227245 | A | AT | splice_region_variant others(1): Show |
LOW | HG01167.hp2 HG01975.hp1 HG02083.hp2 others(8): Show |
a0001a0008a0011others(8): Show | a0001c0001a0008c0013a0011c0033others(8): Show | a0001c0001t0006a0008c0013t0005a0011c0033t0003others(8): Show | a0001c0001t0006g0178 a0008c0013t0005g0045 a0011c0033t0003g0072 others(8): Show |
11 | 176 | 0.0625 | 1 | c.469 others(6): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48237012 | G | GT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00544.hp1 others(23): Show |
a0001a0002a0005others(12): Show | a0001c0001a0001c0104a0002c0002others(16): Show | a0001c0001t0001a0001c0104t0005a0002c0002t0001others(17): Show | a0001c0001t0001g0027 a0001c0001t0001g0040 a0001c0104t0005g0044 others(23): Show |
26 | 102 | 0.2549 | 1 | c.898 others(9): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 8/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48261673 | G | GT | intron_variant | MODIFIER | NA18961.hp1 NA18986.hp1 NA19010.hp1 others(1): Show |
a0001a0080 | a0001c0001a0001c0010a0080c0100 | a0001c0001t0001a0001c0010t0001a0080c0100t0001 | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0010t0001g0054 others(1): Show |
4 | 166 | 0.0241 | 1 | c.200 others(10): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 15/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48268850 | C | CT | intron_variant | MODIFIER | HG00544.hp2 HG02615.hp1 HG02886.hp2 others(3): Show |
a0032a0049a0058others(3): Show | a0032c0051a0049c0082a0058c0049others(3): Show | a0032c0051t0001a0049c0082t0005a0058c0049t0001others(3): Show | a0032c0051t0001g0026 a0049c0082t0005g0139 a0058c0049t0001g0086 others(3): Show |
6 | 121 | 0.0496 | 1 | c.200 others(9): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 15/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48289359 | A | AT | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02109.hp2 others(6): Show |
a0013a0020a0043others(4): Show | a0013c0006a0020c0020a0043c0039others(4): Show | a0013c0006t0001a0020c0020t0001a0020c0020t0005others(5): Show | a0013c0006t0001g0016 a0013c0006t0001g0017 a0020c0020t0001g0007 others(6): Show |
9 | 162 | 0.0556 | 1 | c.895 others(10): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 20/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48290939 | G | GA | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02258.hp1 others(2): Show |
a0013a0023a0024 | a0013c0006a0023c0015a0024c0014 | a0013c0006t0001a0023c0015t0004a0024c0014t0005others(1): Show | a0013c0006t0001g0016 a0023c0015t0004g0173 a0023c0015t0004g0176 others(2): Show |
5 | 132 | 0.0379 | 1 | c.895 others(20): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 20/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48293192 | G | GC | intron_variant | MODIFIER | HG00558.hp2 HG01167.hp2 HG01169.hp1 others(16): Show |
a0001a0004a0005others(13): Show | a0001c0001a0004c0008a0005c0007others(15): Show | a0001c0001t0001a0004c0008t0004a0005c0007t0003others(15): Show | a0001c0001t0001g0027 a0004c0008t0004g0166 a0005c0007t0003g0121 others(16): Show |
19 | 107 | 0.1776 | 1 | c.895 others(10): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 20/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48294437 | T | TG | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG02976.hp2 others(1): Show |
a0023a0024a0043 | a0023c0015a0024c0014a0043c0039 | a0023c0015t0004a0024c0014t0005a0024c0014t0010others(1): Show | a0023c0015t0004g0176 a0024c0014t0005g0119 a0024c0014t0010g0174 others(1): Show |
4 | 165 | 0.0242 | 1 | c.895 others(20): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 20/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48296464 | C | CT | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG00741.hp2 others(26): Show |
a0001a0002a0007others(16): Show | a0001c0001a0002c0022a0007c0011others(21): Show | a0001c0001t0004a0002c0022t0004a0007c0011t0007others(23): Show | a0001c0001t0004g0164 a0002c0022t0004g0163 a0007c0011t0007g0165 others(26): Show |
29 | 174 | 0.1667 | 1 | c.911 others(9): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 21/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48297786 | C | CT | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG00741.hp1 others(58): Show |
a0001a0002a0003others(37): Show | a0001c0001a0002c0022a0003c0003others(43): Show | a0001c0001t0004a0002c0022t0004a0003c0003t0004others(48): Show | a0001c0001t0004g0164 a0002c0022t0004g0163 a0003c0003t0004g0028 others(58): Show |
61 | 175 | 0.3486 | 1 | c.919 others(9): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 22/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48297940 | A | AT | intron_variant | MODIFIER | HG01123.hp2 HG01169.hp1 HG01243.hp1 others(4): Show |
a0003a0004a0015others(3): Show | a0003c0003a0004c0008a0015c0019others(3): Show | a0003c0003t0004a0004c0008t0004a0015c0019t0002others(3): Show | a0003c0003t0004g0029 a0004c0008t0004g0166 a0015c0019t0002g0175 others(4): Show |
7 | 105 | 0.0667 | 1 | c.920 others(9): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 22/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48308114 | G | GT | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02258.hp2 others(9): Show |
a0013a0020a0045others(6): Show | a0013c0006a0020c0020a0045c0041others(6): Show | a0013c0006t0001a0020c0020t0001a0020c0020t0005others(7): Show | a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 others(9): Show |
12 | 176 | 0.0682 | 1 | c.932 others(10): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 23/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48312446 | G | GA | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG00735.hp2 others(25): Show |
a0001a0002a0005others(13): Show | a0001c0001a0002c0002a0002c0022others(18): Show | a0001c0001t0001a0002c0002t0004a0002c0022t0002others(19): Show | a0001c0001t0001g0027 a0001c0001t0001g0063 a0001c0001t0001g0064 others(25): Show |
28 | 131 | 0.2137 | 1 | c.951 others(9): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 24/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |