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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AATK_chr17_81112295_81171221 | 81154319 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(88): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0004a0001c0060others(17): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(19): Show | a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0059 others(84): Show |
91 | 179 | 0.5084 | -3 | c.55+ others(20): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81154525 | GCCA | G | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp2 HG00735.hp1 others(74): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0004a0001c0011others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0002others(32): Show | a0001c0001t0001g0014 a0001c0001t0001g0237 a0001c0001t0001g0250 others(71): Show |
77 | 366 | 0.2104 | -3 | c.55+ others(20): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8681641 | CTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(189): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0021others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0051 others(189): Show |
192 | 329 | 0.5836 | -3 | c.-42 others(20): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8701021 | TCTG | T | intron_variant | MODIFIER | HG02572.hp2 HG02723.hp1 HG03139.hp2 |
a0001a0002 | a0001c0001a0002c0012 | a0001c0001t0004a0001c0001t0011a0002c0012t0002 | a0001c0001t0004g0325 a0001c0001t0011g0326 a0002c0012t0002g0334 |
3 | 360 | 0.0083 | -3 | c.-42 others(22): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8715654 | AAAC | A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00609.hp2 others(45): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0184 a0001c0001t0001g0267 a0001c0001t0001g0313 others(45): Show |
48 | 360 | 0.1333 | -3 | c.-41 others(22): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8723827 | ATTT | A | intron_variant | MODIFIER | HG01167.hp1 HG01255.hp2 HG01433.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0119 a0001c0001t0001g0221 a0001c0001t0001g0275 others(18): Show |
21 | 140 | 0.1500 | -3 | c.-41 others(22): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743645 | TATA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(262): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0011others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(70): Show | a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0051 others(262): Show |
265 | 360 | 0.7361 | -3 | c.71- others(18): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8743684 | GTTA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(263): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0011others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(70): Show | a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0051 others(263): Show |
266 | 360 | 0.7389 | -3 | c.71- others(18): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8750943 | CTTT | C | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02258.hp2 others(7): Show |
a0001a0006 | a0001c0001a0006c0014 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0316 a0001c0001t0001g0319 a0001c0001t0001g0333 others(7): Show |
10 | 199 | 0.0503 | -3 | c.316 others(18): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8761997 | CCTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(217): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0011others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0031 a0001c0001t0001g0051 a0001c0001t0001g0060 others(217): Show |
220 | 360 | 0.6111 | -3 | c.367 others(20): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8780763 | TAAA | T | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp2 HG01258.hp1 others(15): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0005a0001c0001t0011a0001c0001t0047others(7): Show | a0001c0001t0005g0044 a0001c0001t0005g0045 a0001c0001t0005g0056 others(15): Show |
18 | 230 | 0.0783 | -3 | c.138 others(20): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69144892 | CCTT | C | downstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG03098.hp1 others(1): Show |
a0003a0009a0010 | a0003c0028a0009c0010a0010c0022 | a0003c0028t0006a0009c0010t0006a0010c0022t0012 | a0003c0028t0006g0249 a0009c0010t0006g0138 a0009c0010t0006g0195 others(1): Show |
4 | 346 | 0.0116 | -3 | c.*39 others(14): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 3114 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69177955 | CAAA | C | intron_variant | MODIFIER | HG01975.hp2 HG02055.hp1 HG02630.hp1 others(5): Show |
a0004a0005 | a0004c0004a0004c0006a0005c0005 | a0004c0004t0003a0004c0006t0003a0005c0005t0004 | a0004c0004t0003g0270 a0004c0006t0003g0268 a0005c0005t0004g0185 others(5): Show |
8 | 250 | 0.0320 | -3 | c.277 others(22): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 22/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69182835 | GAAA | G | intron_variant | MODIFIER | HG01074.hp1 HG01167.hp2 HG01169.hp2 others(5): Show |
a0004 | a0004c0004 | a0004c0004t0003a0004c0004t0011 | a0004c0004t0003g0233 a0004c0004t0003g0235 a0004c0004t0003g0236 others(5): Show |
8 | 122 | 0.0656 | -3 | c.249 others(18): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69189956 | CTTA | C | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp1 HG01256.hp1 others(4): Show |
a0003a0022 | a0003c0003a0022c0024 | a0003c0003t0001a0022c0024t0001 | a0003c0003t0001g0060 a0003c0003t0001g0091 a0003c0003t0001g0092 others(4): Show |
7 | 346 | 0.0202 | -3 | c.213 others(20): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 18/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210081 | TTTA | T | intron_variant | MODIFIER | HG01346.hp2 HG02451.hp2 HG02572.hp1 others(4): Show |
a0008a0016 | a0008c0009a0016c0037 | a0008c0009t0009a0016c0037t0007 | a0008c0009t0009g0005 a0008c0009t0009g0201 a0008c0009t0009g0227 others(3): Show |
7 | 185 | 0.0378 | -3 | c.100 others(22): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69216743 | AAAC | A | intron_variant | MODIFIER | HG01928.hp2 NA18962.hp1 NA18984.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 a0001c0001t0002g0173 a0001c0001t0002g0174 others(4): Show |
7 | 346 | 0.0202 | -3 | c.531 others(18): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 6/38 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214956490 | GTAT | G | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00735.hp1 others(31): Show |
a0001a0002a0010others(2): Show | a0001c0001a0001c0006a0001c0016others(7): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0020others(10): Show | a0001c0001t0002g0025 a0001c0001t0002g0032 a0001c0001t0002g0035 others(31): Show |
34 | 196 | 0.1735 | -3 | c.623 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 42/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214981942 | TTTA | T | intron_variant | MODIFIER | HG00423.hp1 HG02717.hp1 HG03195.hp2 others(3): Show |
a0001a0002a0010 | a0001c0002a0001c0051a0002c0008others(2): Show | a0001c0002t0001a0001c0051t0004a0002c0008t0007others(2): Show | a0001c0002t0001g0051 a0001c0051t0004g0076 a0002c0008t0007g0010 others(3): Show |
6 | 99 | 0.0606 | -3 | c.457 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 30/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215006867 | CTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02129.hp2 NA19009.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0002t0001a0001c0004t0001 | a0001c0001t0002g0116 a0001c0002t0001g0058 a0001c0002t0001g0061 others(2): Show |
5 | 109 | 0.0459 | -3 | c.259 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 19/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215032713 | AATG | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02280.hp1 others(7): Show |
a0001a0008 | a0001c0005a0001c0045a0008c0026 | a0001c0005t0001a0001c0005t0003a0001c0005t0005others(2): Show | a0001c0005t0001g0145 a0001c0005t0003g0077 a0001c0005t0005g0075 others(7): Show |
10 | 196 | 0.0510 | -3 | c.986 others(18): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 8/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215043572 | TTTG | T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG01243.hp1 others(50): Show |
a0002a0003a0004others(5): Show | a0002c0007a0002c0008a0002c0013others(22): Show | a0002c0007t0002a0002c0007t0003a0002c0007t0004others(35): Show | a0002c0007t0002g0105 a0002c0007t0003g0017 a0002c0007t0003g0069 others(50): Show |
53 | 195 | 0.2718 | -3 | c.872 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 7/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215065297 | TAAA | T | intron_variant | MODIFIER | HG00741.hp1 HG01123.hp2 HG01243.hp1 others(22): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0004others(14): Show | a0001c0001t0012a0001c0002t0001a0001c0002t0022others(18): Show | a0001c0001t0012g0192 a0001c0002t0001g0041 a0001c0002t0022g0148 others(22): Show |
25 | 52 | 0.4808 | -3 | c.164 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215066865 | GCAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp2 others(49): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0002a0001c0004others(18): Show | a0001c0001t0002a0001c0001t0013a0001c0002t0001others(23): Show | a0001c0001t0002g0025 a0001c0001t0002g0059 a0001c0001t0002g0066 others(49): Show |
52 | 196 | 0.2653 | -3 | c.164 others(20): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215077124 | AATG | A | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp1 |
a0001 | a0001c0010 | a0001c0010t0004 | a0001c0010t0004g0113 a0001c0010t0004g0114 |
2 | 196 | 0.0102 | -3 | c.164 others(22): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215083737 | AGCT | A | intron_variant | MODIFIER | HG01243.hp2 HG01258.hp2 HG01346.hp1 others(9): Show |
a0001a0012a0013others(1): Show | a0001c0001a0001c0003a0001c0009others(6): Show | a0001c0001t0002a0001c0003t0001a0001c0009t0001others(8): Show | a0001c0001t0002g0025 a0001c0003t0001g0043 a0001c0009t0001g0136 others(9): Show |
12 | 196 | 0.0612 | -3 | c.164 others(22): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215086919 | TTTA | T | intron_variant | MODIFIER | HG02258.hp2 HG02723.hp1 |
a0001 | a0001c0001a0001c0022 | a0001c0001t0012a0001c0022t0019 | a0001c0001t0012g0192 a0001c0022t0019g0014 |
2 | 4 | 0.5000 | -3 | c.164 others(22): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215094101 | CAGA | C | intron_variant | MODIFIER | HG02109.hp2 HG02615.hp1 HG02723.hp1 |
a0001 | a0001c0010a0001c0022 | a0001c0010t0004a0001c0022t0019 | a0001c0010t0004g0113 a0001c0010t0004g0114 a0001c0022t0019g0014 |
3 | 196 | 0.0153 | -3 | c.163 others(22): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215100013 | TCTC | T | intron_variant | MODIFIER | HG00140.hp2 HG01123.hp2 HG01255.hp2 others(12): Show |
a0001a0002a0004others(1): Show | a0001c0002a0001c0004a0001c0010others(6): Show | a0001c0002t0001a0001c0002t0022a0001c0004t0001others(8): Show | a0001c0002t0001g0161 a0001c0002t0022g0148 a0001c0004t0001g0091 others(12): Show |
15 | 196 | 0.0765 | -3 | c.163 others(22): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215131699 | ATTG | A | intron_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG03225.hp1 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0033a0002c0008others(3): Show | a0001c0001t0012a0001c0033t0026a0002c0008t0007others(3): Show | a0001c0001t0012g0192 a0001c0033t0026g0193 a0002c0008t0007g0011 others(3): Show |
6 | 194 | 0.0309 | -3 | c.69+ others(18): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215131702 | GTTT | G | intron_variant | MODIFIER | HG00735.hp1 HG01243.hp1 HG01884.hp1 others(14): Show |
a0001a0002a0004others(3): Show | a0001c0002a0001c0006a0001c0012others(11): Show | a0001c0002t0001a0001c0006t0023a0001c0012t0004others(11): Show | a0001c0002t0001g0058 a0001c0006t0023g0146 a0001c0012t0004g0039 others(14): Show |
17 | 46 | 0.3696 | -3 | c.69+ others(18): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 1/52 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48168906 | AGTT | A | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00558.hp2 others(47): Show |
a0001a0002a0004others(31): Show | a0001c0001a0002c0002a0002c0022others(37): Show | a0001c0001t0001a0001c0001t0006a0002c0002t0001others(41): Show | a0001c0001t0001g0133 a0001c0001t0006g0178 a0002c0002t0001g0131 others(47): Show |
50 | 176 | 0.2841 | -3 | c.-25 others(14): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 2551 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48178975 | CTAA | C | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG00741.hp1 others(27): Show |
a0001a0002a0003others(15): Show | a0001c0001a0001c0104a0002c0002others(19): Show | a0001c0001t0001a0001c0104t0005a0002c0002t0004others(21): Show | a0001c0001t0001g0040 a0001c0001t0001g0063 a0001c0001t0001g0064 others(27): Show |
30 | 94 | 0.3191 | -3 | c.69+ others(18): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48180107 | CTGA | C | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01123.hp1 others(8): Show |
a0001a0003a0060others(1): Show | a0001c0001a0003c0003a0003c0004others(2): Show | a0001c0001t0001a0003c0003t0004a0003c0004t0001others(4): Show | a0001c0001t0001g0027 a0003c0003t0004g0028 a0003c0003t0004g0029 others(8): Show |
11 | 176 | 0.0625 | -3 | c.69+ others(18): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48185053 | AGTT | A | 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 | -3 | c.70- others(18): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 1/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48193799 | AGAT | A | intron_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 | -3 | c.163 others(18): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 2/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48193912 | GTGA | G | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG01167.hp2 others(19): Show |
a0001a0002a0004others(17): Show | a0001c0001a0002c0022a0004c0009others(18): Show | a0001c0001t0006a0002c0022t0002a0004c0009t0001others(18): Show | a0001c0001t0006g0178 a0002c0022t0002g0124 a0004c0009t0001g0115 others(19): Show |
22 | 176 | 0.1250 | -3 | c.163 others(18): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 2/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48237012 | GTTT | G | intron_variant | MODIFIER | HG00544.hp2 HG00735.hp1 HG00738.hp1 others(30): Show |
a0004a0009a0010others(17): Show | a0004c0008a0004c0009a0009c0017others(23): Show | a0004c0008t0001a0004c0008t0004a0004c0008t0005others(28): Show | a0004c0008t0001g0148 a0004c0008t0004g0166 a0004c0008t0005g0168 others(30): Show |
33 | 109 | 0.3028 | -3 | c.898 others(20): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 8/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48268850 | CTTT | C | intron_variant | MODIFIER | HG02717.hp1 HG02723.hp1 HG02809.hp2 others(8): Show |
a0003a0013a0014others(6): Show | a0003c0004a0013c0006a0014c0025others(7): Show | a0003c0004t0004a0013c0006t0001a0014c0025t0003others(7): Show | a0003c0004t0004g0030 a0013c0006t0001g0002 a0014c0025t0003g0024 others(8): Show |
11 | 126 | 0.0873 | -3 | c.200 others(20): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 15/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48270396 | TTAG | T | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01123.hp2 others(20): Show |
a0004a0018a0025others(12): Show | a0004c0008a0004c0009a0004c0079others(15): Show | a0004c0008t0001a0004c0008t0004a0004c0008t0005others(19): Show | a0004c0008t0001g0148 a0004c0008t0004g0166 a0004c0008t0005g0168 others(20): Show |
23 | 176 | 0.1307 | -3 | c.212 others(22): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 16/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48282558 | GTCA | G | intron_variant | MODIFIER | HG02723.hp2 HG06807.hp1 |
a0056a0074 | a0056c0035a0074c0036 | a0056c0035t0002a0074c0036t0007 | a0056c0035t0002g0157 a0074c0036t0007g0083 |
2 | 176 | 0.0114 | -3 | c.883 others(22): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 19/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48290939 | GGAA | G | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG01123.hp1 others(9): Show |
a0003a0018a0027others(2): Show | a0003c0003a0003c0004a0018c0026others(3): Show | a0003c0003t0004a0003c0004t0001a0003c0004t0002others(4): Show | a0003c0003t0004g0028 a0003c0003t0004g0029 a0003c0003t0004g0034 others(9): Show |
12 | 139 | 0.0863 | -3 | c.895 others(22): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 20/61 | chr7 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48431342 | AAAC | A | intron_variant | MODIFIER | HG00735.hp2 HG01123.hp2 HG02055.hp2 others(19): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0010a0002c0065others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0010t0001others(16): Show | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0063 others(19): Show |
22 | 53 | 0.4151 | -3 | c.125 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48453235 | ATTT | A | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG00741.hp2 others(48): Show |
a0005a0006a0007others(23): Show | a0005c0007a0005c0023a0006c0005others(32): Show | a0005c0007t0002a0005c0007t0003a0005c0023t0003others(36): Show | a0005c0007t0002g0129 a0005c0007t0003g0121 a0005c0007t0003g0137 others(48): Show |
51 | 152 | 0.3355 | -3 | c.125 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 42/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48468145 | CCTT | C | intron_variant | MODIFIER | HG00544.hp1 HG01123.hp2 HG02523.hp2 others(12): Show |
a0001a0003a0008others(6): Show | a0001c0001a0001c0010a0003c0004others(8): Show | a0001c0001t0001a0001c0010t0001a0003c0004t0001others(8): Show | a0001c0001t0001g0042 a0001c0001t0001g0050 a0001c0001t0001g0063 others(12): Show |
15 | 176 | 0.0852 | -3 | c.129 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 44/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48525670 | CTTT | C | intron_variant | MODIFIER | HG02109.hp1 HG02717.hp1 HG03540.hp1 others(5): Show |
a0001a0005a0006others(3): Show | a0001c0103a0005c0063a0006c0024others(3): Show | a0001c0103t0006a0005c0063t0001a0006c0024t0001others(4): Show | a0001c0103t0006g0059 a0005c0063t0001g0010 a0006c0024t0001g0019 others(5): Show |
8 | 14 | 0.5714 | -3 | c.142 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 54/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48531731 | ATTT | A | intron_variant | MODIFIER | HG00558.hp1 HG02523.hp2 HG03654.hp1 others(4): Show |
a0001a0008a0010others(3): Show | a0001c0001a0008c0013a0010c0016others(3): Show | a0001c0001t0001a0008c0013t0002a0010c0016t0001others(3): Show | a0001c0001t0001g0082 a0008c0013t0002g0089 a0010c0016t0001g0088 others(4): Show |
7 | 35 | 0.2000 | -3 | c.143 others(24): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48545820 | AATG | A | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(33): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(27): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(28): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(33): Show |
36 | 176 | 0.2045 | -3 | c.143 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48562110 | GGGA | G | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(28): Show |
a0001a0002a0003others(19): Show | a0001c0001a0002c0002a0002c0022others(22): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(23): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(28): Show |
31 | 176 | 0.1761 | -3 | c.143 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA13_chr7_48166458_48652497 | 48564438 | TTAA | T | intron_variant | MODIFIER | HG00408.hp1 HG00741.hp1 HG01070.hp2 others(33): Show |
a0001a0002a0003others(24): Show | a0001c0001a0002c0002a0002c0022others(27): Show | a0001c0001t0004a0002c0002t0004a0002c0022t0004others(28): Show | a0001c0001t0004g0049 a0001c0001t0004g0164 a0002c0002t0004g0106 others(33): Show |
36 | 176 | 0.2045 | -3 | c.143 others(26): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 55/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |