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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA10_chr17_69143007_69233824 | 69223276 | A | ATATC | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01071.hp1 others(68): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0003others(11): Show | a0001c0001t0002a0001c0001t0006a0001c0001t0017others(17): Show | a0001c0001t0002g0257 a0001c0001t0006g0012 a0001c0001t0006g0013 others(66): Show |
71 | 346 | 0.2052 | 4 | c.35- others(17): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 3/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69227114 | G | GATAT | intron_variant | MODIFIER | HG00738.hp2 HG01346.hp2 HG02145.hp2 others(1): Show |
a0003a0014a0016 | a0003c0003a0014c0020a0016c0037 | a0003c0003t0001a0014c0020t0006a0016c0037t0007 | a0003c0003t0001g0136 a0003c0003t0001g0137 a0014c0020t0006g0135 others(1): Show |
4 | 207 | 0.0193 | 4 | c.-17 others(19): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 2/38 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214930762 | C | CTGTT | downstream_gene_variant | MODIFIER | HG02738.hp2 HG03017.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0066 a0001c0001t0002g0119 |
2 | 196 | 0.0102 | 4 | c.*18 others(15): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 779 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214931084 | C | CATAT | downstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02055.hp1 others(16): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0005a0001c0010others(9): Show | a0001c0001t0013a0001c0005t0003a0001c0005t0005others(10): Show | a0001c0001t0013g0044 a0001c0005t0003g0077 a0001c0005t0005g0075 others(16): Show |
19 | 82 | 0.2317 | 4 | c.*15 others(15): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 457 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214931578 | G | GACAA | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(42): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0002a0001c0001t0012a0001c0002t0011others(18): Show | a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0035 others(42): Show |
45 | 196 | 0.2296 | 4 | c.*10 others(15): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 53/53 | 1055 | chr2 | TogoVar | ||||||
ABCA12_chr2_214926542_215143626 | 214934913 | A | ATTAG | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 HG02615.hp1 others(9): Show |
a0001a0002 | a0001c0010a0001c0045a0001c0051others(3): Show | a0001c0010t0004a0001c0045t0004a0001c0051t0004others(4): Show | a0001c0010t0004g0113 a0001c0010t0004g0114 a0001c0045t0004g0067 others(9): Show |
12 | 196 | 0.0612 | 4 | c.754 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 51/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214936938 | G | GAAAA | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 HG02615.hp1 others(9): Show |
a0001a0002 | a0001c0010a0001c0045a0001c0051others(3): Show | a0001c0010t0004a0001c0045t0004a0001c0051t0004others(4): Show | a0001c0010t0004g0113 a0001c0010t0004g0114 a0001c0045t0004g0067 others(9): Show |
12 | 137 | 0.0876 | 4 | c.754 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 51/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214950384 | C | CTGTG | intron_variant | MODIFIER | HG02809.hp1 HG02809.hp2 HG02886.hp2 others(6): Show |
a0001a0003a0004others(1): Show | a0001c0002a0001c0003a0001c0005others(3): Show | a0001c0002t0001a0001c0003t0001a0001c0005t0001others(3): Show | a0001c0002t0001g0051 a0001c0002t0001g0151 a0001c0003t0001g0031 others(6): Show |
9 | 86 | 0.1047 | 4 | c.685 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 45/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214951211 | A | AGCAT | intron_variant | MODIFIER | HG02451.hp1 HG02559.hp1 HG02647.hp2 others(6): Show |
a0001a0002a0003 | a0001c0045a0001c0051a0002c0008others(1): Show | a0001c0045t0004a0001c0051t0004a0002c0008t0004others(2): Show | a0001c0045t0004g0067 a0001c0051t0004g0076 a0002c0008t0004g0021 others(6): Show |
9 | 196 | 0.0459 | 4 | c.664 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 44/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214963923 | C | CAAAA | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp1 HG01243.hp2 others(19): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0001c0010others(12): Show | a0001c0001t0002a0001c0006t0002a0001c0010t0002others(14): Show | a0001c0001t0002g0059 a0001c0001t0002g0116 a0001c0001t0002g0119 others(19): Show |
22 | 95 | 0.2316 | 4 | c.588 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 39/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214989187 | C | CATAT | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0109 a0001c0005t0005g0110 a0001c0005t0005g0111 others(1): Show |
4 | 28 | 0.1429 | 4 | c.382 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 26/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215008396 | A | AACAC | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01884.hp2 others(10): Show |
a0001a0002a0008 | a0001c0005a0001c0010a0002c0007others(1): Show | a0001c0005t0005a0001c0010t0002a0001c0010t0004others(5): Show | a0001c0005t0005g0109 a0001c0005t0005g0110 a0001c0005t0005g0111 others(10): Show |
13 | 196 | 0.0663 | 4 | c.247 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 18/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215016582 | C | CAAAA | intron_variant | MODIFIER | HG02055.hp1 HG02630.hp2 HG02647.hp1 others(2): Show |
a0001a0002 | a0001c0005a0001c0010a0002c0007others(1): Show | a0001c0005t0001a0001c0010t0003a0002c0007t0003others(2): Show | a0001c0005t0001g0145 a0001c0010t0003g0143 a0002c0007t0003g0017 others(2): Show |
5 | 23 | 0.2174 | 4 | c.178 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 14/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215016605 | A | AAAAG | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp2 HG01255.hp1 others(9): Show |
a0001a0002a0012others(3): Show | a0001c0005a0001c0009a0001c0040others(6): Show | a0001c0005t0001a0001c0009t0001a0001c0009t0003others(9): Show | a0001c0005t0001g0124 a0001c0009t0001g0136 a0001c0009t0003g0157 others(9): Show |
12 | 191 | 0.0628 | 4 | c.178 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 14/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215039759 | A | AAAAT | intron_variant | MODIFIER | HG00423.hp2 HG00735.hp1 HG00741.hp2 others(16): Show |
a0001a0005a0011others(1): Show | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0012a0001c0003t0001a0001c0003t0002others(8): Show | a0001c0001t0012g0192 a0001c0003t0001g0033 a0001c0003t0001g0036 others(16): Show |
19 | 166 | 0.1145 | 4 | c.873 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 7/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215041551 | C | CAAAA | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01975.hp2 others(2): Show |
a0002a0008 | a0002c0007a0002c0027a0008c0026 | a0002c0007t0004a0002c0027t0003a0008c0026t0003 | a0002c0007t0004g0149 a0002c0027t0003g0073 a0002c0027t0003g0074 others(2): Show |
5 | 146 | 0.0342 | 4 | c.872 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 7/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215051609 | A | AGTGT | intron_variant | MODIFIER | HG01243.hp2 HG01255.hp2 HG01346.hp1 others(10): Show |
a0001a0005a0012others(1): Show | a0001c0003a0001c0006a0001c0015others(5): Show | a0001c0003t0001a0001c0006t0005a0001c0015t0007others(7): Show | a0001c0003t0001g0033 a0001c0003t0001g0166 a0001c0006t0005g0152 others(10): Show |
13 | 15 | 0.8667 | 4 | c.507 others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 5/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215065297 | T | TAAAA | intron_variant | MODIFIER | HG02280.hp2 HG02622.hp1 HG02630.hp2 others(3): Show |
a0001a0002 | a0001c0010a0002c0007a0002c0013others(2): Show | a0001c0010t0003a0002c0007t0004a0002c0007t0017others(3): Show | a0001c0010t0003g0143 a0002c0007t0004g0149 a0002c0007t0017g0012 others(3): Show |
6 | 33 | 0.1818 | 4 | c.164 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215074956 | A | AAAAT | intron_variant | MODIFIER | HG02717.hp1 HG02896.hp2 HG02897.hp1 |
a0001 | a0001c0005a0001c0051 | a0001c0005t0005a0001c0051t0004 | a0001c0005t0005g0110 a0001c0005t0005g0111 a0001c0051t0004g0076 |
3 | 196 | 0.0153 | 4 | c.164 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215081495 | A | AAAAG | intron_variant | MODIFIER | HG01978.hp2 HG02257.hp2 HG02258.hp2 others(8): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0001c0012others(6): Show | a0001c0001t0002a0001c0001t0012a0001c0004t0001others(7): Show | a0001c0001t0002g0119 a0001c0001t0002g0170 a0001c0001t0012g0192 others(8): Show |
11 | 21 | 0.5238 | 4 | c.164 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215087487 | C | CGTGT | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp2 HG02922.hp1 others(5): Show |
a0001 | a0001c0012a0001c0015a0001c0042 | a0001c0012t0004a0001c0012t0014a0001c0015t0007others(2): Show | a0001c0012t0004g0039 a0001c0012t0004g0064 a0001c0012t0014g0015 others(5): Show |
8 | 21 | 0.3810 | 4 | c.164 others(23): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215105578 | G | GACAC | intron_variant | MODIFIER | HG01884.hp1 HG02922.hp1 HG03139.hp1 others(4): Show |
a0001 | a0001c0006a0001c0012a0001c0015others(1): Show | a0001c0006t0005a0001c0012t0004a0001c0012t0014others(3): Show | a0001c0006t0005g0152 a0001c0012t0004g0039 a0001c0012t0004g0064 others(4): Show |
7 | 184 | 0.0380 | 4 | c.163 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215105592 | C | CACAT | 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 | 4 | c.163 others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215119734 | T | TAAAA | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG02451.hp2 others(2): Show |
a0002a0004a0009 | a0002c0013a0004c0018a0004c0060others(1): Show | a0002c0013t0008a0004c0018t0021a0004c0060t0006others(1): Show | a0002c0013t0008g0190 a0004c0018t0021g0082 a0004c0060t0006g0080 others(2): Show |
5 | 146 | 0.0342 | 4 | c.70- others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215123747 | C | CTTTT | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG02109.hp1 others(32): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0009others(20): Show | a0001c0001t0012a0001c0004t0010a0001c0009t0008others(24): Show | a0001c0001t0012g0191 a0001c0001t0012g0192 a0001c0004t0010g0198 others(32): Show |
35 | 196 | 0.1786 | 4 | c.70- others(21): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215134548 | G | GTATA | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02055.hp2 others(20): Show |
a0001a0002a0003others(2): Show | a0001c0005a0001c0012a0001c0044others(10): Show | a0001c0005t0005a0001c0012t0014a0001c0044t0006others(13): Show | a0001c0005t0005g0109 a0001c0005t0005g0110 a0001c0005t0005g0111 others(20): Show |
23 | 192 | 0.1198 | 4 | c.69+ others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215134553 | T | TATAC | intron_variant | MODIFIER | HG02572.hp2 HG02647.hp2 HG02896.hp1 others(3): Show |
a0001a0002a0006others(1): Show | a0001c0045a0002c0007a0002c0057others(2): Show | a0001c0045t0004a0002c0007t0006a0002c0057t0006others(2): Show | a0001c0045t0004g0067 a0002c0007t0006g0175 a0002c0007t0006g0176 others(3): Show |
6 | 184 | 0.0326 | 4 | c.69+ others(19): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48170097 | T | TAATC | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01975.hp2 HG01993.hp1 others(14): Show |
a0006a0008a0009others(10): Show | a0006c0005a0008c0013a0009c0044others(12): Show | a0006c0005t0003a0008c0013t0002a0009c0044t0001others(12): Show | a0006c0005t0003g0087 a0006c0005t0003g0093 a0006c0005t0003g0094 others(14): Show |
17 | 176 | 0.0966 | 4 | c.-13 others(15): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1360 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48187017 | G | GTATA | intron_variant | MODIFIER | HG00544.hp1 HG00735.hp2 HG00741.hp2 others(34): Show |
a0001a0002a0005others(22): Show | a0001c0001a0002c0002a0002c0065others(27): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0004others(29): Show | a0001c0001t0001g0133 a0002c0002t0001g0131 a0002c0002t0004g0106 others(34): Show |
37 | 147 | 0.2517 | 4 | c.70- others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48187019 | G | GTATA | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01074.hp1 others(19): Show |
a0002a0004a0010others(13): Show | a0002c0002a0002c0022a0004c0008others(16): Show | a0002c0002t0002a0002c0022t0004a0004c0008t0001others(18): Show | a0002c0002t0002g0156 a0002c0002t0002g0167 a0002c0022t0004g0163 others(19): Show |
22 | 103 | 0.2136 | 4 | c.70- others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48200990 | G | GAGAC | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG00741.hp1 others(33): Show |
a0001a0002a0003others(17): Show | a0001c0001a0002c0002a0002c0022others(21): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0002others(27): Show | a0001c0001t0001g0027 a0001c0001t0004g0164 a0002c0002t0002g0156 others(33): Show |
36 | 176 | 0.2045 | 4 | c.287 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 3/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48206787 | A | AGTGT | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG01167.hp2 others(18): Show |
a0001a0002a0004others(16): Show | a0001c0001a0002c0022a0004c0009others(17): Show | a0001c0001t0006a0002c0022t0002a0004c0009t0001others(17): Show | a0001c0001t0006g0178 a0002c0022t0002g0124 a0004c0009t0001g0115 others(18): Show |
21 | 146 | 0.1438 | 4 | c.287 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 3/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48219883 | A | AACAC | intron_variant | MODIFIER | HG00741.hp2 HG01169.hp1 HG01169.hp2 others(15): Show |
a0002a0004a0006others(11): Show | a0002c0002a0002c0022a0004c0008others(14): Show | a0002c0002t0002a0002c0002t0004a0002c0022t0004others(15): Show | a0002c0002t0002g0167 a0002c0002t0004g0142 a0002c0022t0004g0163 others(15): Show |
18 | 51 | 0.3529 | 4 | c.439 others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 4/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48225101 | A | ATGCG | intron_variant | MODIFIER | NA19030.hp1 NA19043.hp2 |
a0007a0014 | a0007c0102a0014c0076 | a0007c0102t0001a0014c0076t0001 | a0007c0102t0001g0020 a0014c0076t0001g0021 |
2 | 176 | 0.0114 | 4 | c.469 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48225109 | G | GTGCC | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(23): Show |
a0001a0003a0005others(11): Show | a0001c0001a0001c0010a0003c0003others(13): Show | a0001c0001t0001a0001c0010t0001a0003c0003t0004others(15): Show | a0001c0001t0001g0004 a0001c0001t0001g0027 a0001c0010t0001g0067 others(23): Show |
26 | 105 | 0.2476 | 4 | c.469 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48225131 | G | GCCTT | intron_variant | MODIFIER | HG00738.hp2 HG01169.hp1 HG01433.hp1 others(1): Show |
a0004a0036a0075 | a0004c0008a0004c0009a0036c0081others(1): Show | a0004c0008t0004a0004c0009t0002a0036c0081t0001others(1): Show | a0004c0008t0004g0166 a0004c0009t0002g0151 a0036c0081t0001g0149 others(1): Show |
4 | 168 | 0.0238 | 4 | c.469 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48225135 | G | GCCTT | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01952.hp2 others(18): Show |
a0001a0003a0008others(14): Show | a0001c0001a0003c0003a0008c0013others(14): Show | a0001c0001t0001a0003c0003t0004a0008c0013t0001others(15): Show | a0001c0001t0001g0027 a0001c0001t0001g0040 a0003c0003t0004g0029 others(18): Show |
21 | 69 | 0.3043 | 4 | c.469 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 5/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48230736 | A | AATCC | intron_variant | MODIFIER | HG01192.hp2 HG01975.hp1 NA19083.hp2 |
a0001a0011a0029 | a0001c0010a0011c0033a0029c0097 | a0001c0010t0002a0011c0033t0003a0029c0097t0001 | a0001c0010t0002g0075 a0011c0033t0003g0072 a0029c0097t0001g0084 |
3 | 176 | 0.0170 | 4 | c.763 others(19): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 7/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48232139 | A | ATTTT | intron_variant | MODIFIER | HG00558.hp1 HG01981.hp1 HG02071.hp2 others(7): Show |
a0002a0005a0006others(5): Show | a0002c0002a0005c0023a0006c0005others(6): Show | a0002c0002t0001a0002c0002t0004a0005c0023t0003others(7): Show | a0002c0002t0001g0131 a0002c0002t0004g0142 a0005c0023t0003g0171 others(7): Show |
10 | 12 | 0.8333 | 4 | c.764 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 7/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48293192 | G | GCCCC | intron_variant | MODIFIER | HG00544.hp1 HG00544.hp2 HG00741.hp2 others(25): Show |
a0001a0005a0009others(16): Show | a0001c0001a0001c0010a0005c0007others(20): Show | a0001c0001t0001a0001c0010t0001a0005c0007t0002others(20): Show | a0001c0001t0001g0082 a0001c0001t0001g0133 a0001c0001t0001g0177 others(25): Show |
28 | 116 | 0.2414 | 4 | c.895 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 20/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48309033 | G | GCACA | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02717.hp1 others(12): Show |
a0004a0005a0006others(9): Show | a0004c0008a0004c0079a0005c0063others(10): Show | a0004c0008t0005a0004c0079t0006a0005c0063t0001others(10): Show | a0004c0008t0005g0168 a0004c0079t0006g0147 a0005c0063t0001g0010 others(12): Show |
15 | 27 | 0.5556 | 4 | c.932 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 23/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48313983 | A | ATGTG | intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02258.hp2 others(8): Show |
a0013a0020a0045others(6): Show | a0013c0006a0020c0020a0045c0041others(6): Show | a0013c0006t0001a0020c0020t0005a0045c0041t0004others(6): Show | a0013c0006t0001g0002 a0013c0006t0001g0016 a0013c0006t0001g0017 others(8): Show |
11 | 175 | 0.0629 | 4 | c.968 others(21): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 25/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48330485 | G | GTCCA | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00735.hp2 others(60): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0010a0001c0103others(43): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(50): Show | a0001c0001t0001g0004 a0001c0001t0001g0040 a0001c0001t0001g0063 others(60): Show |
63 | 138 | 0.4565 | 4 | c.100 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48330737 | A | ACATC | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp1 HG01070.hp2 others(55): Show |
a0001a0002a0003others(31): Show | a0001c0001a0001c0010a0002c0002others(38): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(45): Show | a0001c0001t0001g0064 a0001c0001t0002g0066 a0001c0001t0004g0164 others(55): Show |
58 | 132 | 0.4394 | 4 | c.100 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48368687 | G | GTATA | intron_variant | MODIFIER | HG00544.hp1 HG02280.hp2 HG02622.hp1 others(3): Show |
a0001a0016a0025others(2): Show | a0001c0001a0016c0029a0025c0089others(2): Show | a0001c0001t0002a0016c0029t0001a0016c0029t0004others(3): Show | a0001c0001t0002g0058 a0016c0029t0001g0134 a0016c0029t0004g0071 others(3): Show |
6 | 53 | 0.1132 | 4 | c.108 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 32/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48401744 | A | AACAC | intron_variant | MODIFIER | HG01243.hp2 HG02976.hp2 NA19011.hp1 |
a0011a0020a0023 | a0011c0031a0020c0020a0023c0015 | a0011c0031t0003a0020c0020t0005a0023c0015t0004 | a0011c0031t0003g0112 a0020c0020t0005g0123 a0023c0015t0004g0176 |
3 | 78 | 0.0385 | 4 | c.118 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 38/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48410977 | C | CTCTT | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00738.hp1 others(19): Show |
a0001a0003a0005others(14): Show | a0001c0001a0003c0004a0005c0007others(16): Show | a0001c0001t0001a0003c0004t0002a0003c0004t0004others(18): Show | a0001c0001t0001g0063 a0001c0001t0001g0082 a0003c0004t0002g0035 others(19): Show |
22 | 107 | 0.2056 | 4 | c.122 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48411183 | C | CTCTT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(37): Show |
a0001a0002a0003others(25): Show | a0001c0010a0002c0022a0003c0003others(26): Show | a0001c0010t0002a0002c0022t0002a0003c0003t0004others(29): Show | a0001c0010t0002g0075 a0002c0022t0002g0124 a0003c0003t0004g0028 others(37): Show |
40 | 176 | 0.2273 | 4 | c.122 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48411241 | C | CTCTT | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(36): Show |
a0001a0002a0003others(24): Show | a0001c0010a0002c0022a0003c0003others(25): Show | a0001c0010t0002a0002c0022t0002a0003c0003t0004others(28): Show | a0001c0010t0002g0075 a0002c0022t0002g0124 a0003c0003t0004g0028 others(36): Show |
39 | 175 | 0.2229 | 4 | c.122 others(23): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 40/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48422108 | G | GAGGA | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00558.hp2 others(87): Show |
a0001a0002a0003others(53): Show | a0001c0001a0002c0002a0003c0003others(63): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0004others(70): Show | a0001c0001t0001g0177 a0001c0001t0004g0049 a0002c0002t0004g0106 others(87): Show |
90 | 176 | 0.5114 | 4 | c.124 others(25): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 41/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |