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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A4GALT_chr22_42687121_42725870 | 42714274 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG02257.hp2 HG02523.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0002t0003a0001c0002t0005 | a0001c0001t0016g0075 a0001c0002t0003g0072 a0001c0002t0003g0073 others(7): Show |
10 | 133 | 0.0752 | 7 | c.-18 others(26): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42722223 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG01496.hp2 HG02280.hp1 HG02559.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003others(1): Show | a0001c0001t0025a0001c0007t0004a0002c0003t0001others(2): Show | a0001c0001t0025g0391 a0001c0007t0004g0264 a0001c0007t0004g0269 others(4): Show |
7 | 70 | 0.1000 | 7 | c.-16 others(18): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1354 | chr22 | TogoVar | |||||||
AAAS_chr12_53302460_53326610 | 53319585 | G | GCAGATTA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(304): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(161): Show |
307 | 328 | 0.9360 | 7 | c.251 others(22): Show |
AAAS | ENSG00000094914.14 | transcript | ENST00000209873.9 | protein_coding | 2/15 | chr12 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125103987 | C | CAAAAAAA | intron_variant | MODIFIER | HG02145.hp1 HG03669.hp1 NA18986.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(2): Show | a0001c0001t0001g0273 a0001c0001t0001g0287 a0001c0001t0001g0317 others(5): Show |
8 | 24 | 0.3333 | 7 | c.767 others(22): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AADACL4_chr1_12639085_12672076 | 12653307 | A | AACCTAAT | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp2 NA18522.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0068 a0001c0001t0002g0052 a0001c0001t0002g0065 |
3 | 308 | 0.0097 | 7 | c.385 others(24): Show |
AADACL4 | ENSG00000204518.3 | transcript | ENST00000376221.2 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170056433 | A | ATATATAT | downstream_gene_variant | MODIFIER | HG01975.hp2 HG02738.hp2 HG03017.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0092 others(3): Show |
6 | 337 | 0.0178 | 7 | c.*44 others(18): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3788 | chr4 | TogoVar | |||||||
AADAT_chr4_170055222_170094956 | 170056435 | A | AAATATAT | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG00741.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0018 others(8): Show |
19 | 179 | 0.1061 | 7 | c.*44 others(18): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3786 | chr4 | TogoVar | |||||||
AADAT_chr4_170055222_170094956 | 170056435 | A | ATATATAT | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00609.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0010 others(15): Show |
44 | 204 | 0.2157 | 7 | c.*44 others(18): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3786 | chr4 | TogoVar | |||||||
AAGAB_chr15_67195667_67259661 | 67253247 | A | AAACCCCG | intron_variant | MODIFIER | NA18747.hp1 NA18991.hp2 NA19077.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0207 a0001c0001t0005g0208 a0001c0001t0005g0209 others(1): Show |
4 | 378 | 0.0106 | 7 | c.73+ others(22): Show |
AAGAB | ENSG00000103591.13 | transcript | ENST00000261880.10 | protein_coding | 1/9 | chr15 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69492518 | C | CTTTTTTT | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01243.hp2 others(43): Show |
a0001 | a0001c0001a0001c0006a0001c0011 | a0001c0001t0005a0001c0001t0007a0001c0001t0010others(22): Show | a0001c0001t0005g0197 a0001c0001t0005g0213 a0001c0001t0005g0254 others(43): Show |
46 | 117 | 0.3932 | 7 | c.236 others(26): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69633218 | C | CAAAAAAA | intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02280.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0011a0002c0016others(2): Show | a0001c0001t0021a0001c0001t0041a0001c0001t0054others(11): Show | a0001c0001t0021g0278 a0001c0001t0041g0287 a0001c0001t0054g0289 others(13): Show |
16 | 147 | 0.1088 | 7 | c.163 others(24): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 2/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69644165 | T | TTCGCGCC | upstream_gene_variant | MODIFIER | HG02717.hp2 HG03209.hp1 HG03225.hp1 others(1): Show |
a0001a0003a0004 | a0001c0001a0003c0014a0004c0012 | a0001c0001t0059a0001c0001t0115a0003c0014t0025others(1): Show | a0001c0001t0059g0288 a0001c0001t0115g0184 a0003c0014t0025g0291 others(1): Show |
4 | 32 | 0.1250 | 7 | c.-82 others(16): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 427 | chr2 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77852224 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00733.hp1 others(18): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0002a0002c0003t0001 | a0001c0002t0002g0269 a0002c0003t0001g0019 a0002c0003t0001g0020 others(18): Show |
21 | 24 | 0.8750 | 7 | c.132 others(24): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AANAT_chr17_76462603_76475117 | 76463309 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG01256.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(1): Show |
15 | 30 | 0.5000 | 7 | c.-44 others(18): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 4293 | chr17 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70262967 | C | CAAAAAAA | intron_variant | MODIFIER | HG00423.hp2 HG01123.hp1 HG01123.hp2 others(37): Show |
a0001a0005a0007 | a0001c0001a0001c0002a0005c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0012 a0001c0001t0001g0017 others(37): Show |
40 | 116 | 0.3448 | 7 | c.149 others(24): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70293597 | A | ATTTTTTT | upstream_gene_variant | MODIFIER | HG00423.hp2 HG01346.hp2 HG01361.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0003 | a0001c0001t0001g0068 a0001c0001t0001g0085 a0001c0001t0001g0105 others(5): Show |
8 | 97 | 0.0825 | 7 | c.-42 others(18): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4092 | chr16 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42947805 | C | CTGAGATT | downstream_gene_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG02257.hp2 others(13): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0008 a0001c0002t0001g0023 a0001c0002t0001g0024 others(4): Show |
16 | 322 | 0.0497 | 7 | c.*27 others(18): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2720 | chr17 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56359324 | C | CGCCTCCT | intron_variant | MODIFIER | HG00597.hp2 HG00735.hp2 HG01069.hp1 others(97): Show |
a0002a0007a0009others(3): Show | a0002c0002a0002c0006a0002c0024others(5): Show | a0002c0002t0001a0002c0002t0007a0002c0006t0001others(6): Show | a0002c0002t0001g0002 a0002c0002t0001g0009 a0002c0002t0001g0017 others(85): Show |
100 | 380 | 0.2632 | 7 | c.862 others(24): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 5/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56374367 | C | CAAAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp1 HG03139.hp1 others(2): Show |
a0005 | a0005c0007 | a0005c0007t0003 | a0005c0007t0003g0033 a0005c0007t0003g0034 a0005c0007t0003g0036 others(2): Show |
5 | 136 | 0.0368 | 7 | c.669 others(24): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56386799 | C | CAAAAAAA | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG02647.hp1 others(4): Show |
a0001a0006a0013 | a0001c0005a0006c0008a0013c0021 | a0001c0005t0001a0006c0008t0001a0013c0021t0001 | a0001c0005t0001g0032 a0001c0005t0001g0321 a0001c0005t0001g0322 others(4): Show |
7 | 107 | 0.0654 | 7 | c.-43 others(22): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | chr4 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 37001455 | G | GGAAGGAA | intron_variant | MODIFIER | HG04228.hp1 NA18940.hp1 NA18943.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0116 a0001c0001t0001g0183 a0001c0001t0001g0184 others(2): Show |
5 | 199 | 0.0251 | 7 | c.139 others(28): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | chr17 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 37009823 | C | CAAAAAAA | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG02027.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0024 a0001c0001t0001g0026 a0001c0001t0001g0081 others(15): Show |
19 | 124 | 0.1532 | 7 | c.139 others(26): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8726262 | C | CTTTTTTT | intron_variant | MODIFIER | HG01168.hp2 HG01192.hp1 HG01255.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0269 a0001c0001t0002g0136 a0001c0001t0003g0131 others(8): Show |
11 | 150 | 0.0733 | 7 | c.-41 others(24): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8754179 | T | TAAAAAAA | intron_variant | MODIFIER | HG01515.hp1 HG02723.hp2 HG02735.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0003a0001c0003t0002a0001c0003t0003others(2): Show | a0001c0001t0003g0032 a0001c0003t0002g0170 a0001c0003t0003g0069 others(3): Show |
6 | 53 | 0.1132 | 7 | c.317 others(24): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8771464 | C | CTTTTTTT | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00733.hp2 others(30): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(16): Show | a0001c0001t0001g0051 a0001c0001t0001g0221 a0001c0001t0001g0233 others(30): Show |
33 | 349 | 0.0946 | 7 | c.817 others(24): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABCA10_chr17_69143007_69233824 | 69144815 | T | TCTCCCTC | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG03098.hp2 others(3): Show |
a0008 | a0008c0009 | a0008c0009t0009 | a0008c0009t0009g0005 a0008c0009t0009g0201 a0008c0009t0009g0227 others(2): Show |
6 | 346 | 0.0173 | 7 | c.*40 others(18): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 3191 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69195554 | C | CTTTTTTT | intron_variant | MODIFIER | HG01884.hp1 HG02040.hp1 HG02300.hp1 others(6): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0002a0002c0002t0001a0003c0003t0001others(5): Show | a0001c0001t0002g0163 a0002c0002t0001g0267 a0002c0002t0001g0276 others(6): Show |
9 | 21 | 0.4286 | 7 | c.123 others(26): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215016582 | C | CAAAAAAA | intron_variant | MODIFIER | HG00735.hp1 HG00735.hp2 HG00741.hp1 others(29): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(14): Show | a0001c0001t0012a0001c0001t0013a0001c0002t0001others(18): Show | a0001c0001t0012g0192 a0001c0001t0013g0044 a0001c0002t0001g0041 others(29): Show |
32 | 50 | 0.6400 | 7 | c.178 others(24): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 14/52 | chr2 | TogoVar | |||||||
ABCA13_chr7_48166458_48652497 | 48328714 | A | AAAATTAT | intron_variant | MODIFIER | HG01243.hp2 HG03139.hp1 HG03453.hp1 |
a0020a0024a0067 | a0020c0020a0024c0014a0067c0053 | a0020c0020t0005a0024c0014t0010a0067c0053t0004 | a0020c0020t0005g0123 a0024c0014t0010g0174 a0067c0053t0004g0122 |
3 | 176 | 0.0170 | 7 | c.100 others(28): Show |
ABCA13 | ENSG00000179869.15 | transcript | ENST00000435803.6 | protein_coding | 27/61 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ABCA1_chr9_104776006_104933155 | 104791503 | G | GGCTCACT | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00609.hp1 others(114): Show |
a0001a0002a0003others(13): Show | a0001c0005a0002c0011a0002c0015others(51): Show | a0001c0005t0004a0002c0011t0004a0002c0011t0007others(91): Show | a0001c0005t0004g0142 a0002c0011t0004g0113 a0002c0011t0004g0177 others(113): Show |
117 | 316 | 0.3703 | 7 | c.582 others(24): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 43/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104806109 | A | AAAAAAAC | intron_variant | MODIFIER | HG01891.hp2 HG02257.hp1 HG02723.hp2 others(5): Show |
a0002a0004 | a0002c0024a0002c0032a0004c0042others(1): Show | a0002c0024t0008a0002c0032t0001a0004c0042t0008others(1): Show | a0002c0024t0008g0004 a0002c0024t0008g0009 a0002c0024t0008g0110 others(5): Show |
8 | 316 | 0.0253 | 7 | c.446 others(24): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 31/49 | chr9 | TogoVar | |||||||
ABCA1_chr9_104776006_104933155 | 104893421 | C | CAAAAAAA | intron_variant | MODIFIER | HG02451.hp1 HG02809.hp1 HG02970.hp1 others(4): Show |
a0002a0004a0012others(2): Show | a0002c0074a0004c0044a0004c0107others(4): Show | a0002c0074t0027a0004c0044t0007a0004c0107t0002others(4): Show | a0002c0074t0027g0214 a0004c0044t0007g0303 a0004c0107t0002g0291 others(4): Show |
7 | 119 | 0.0588 | 7 | c.67- others(22): Show |
ABCA1 | ENSG00000165029.17 | transcript | ENST00000374736.8 | protein_coding | 2/49 | chr9 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94116968 | C | CTCTTTCT | intron_variant | MODIFIER | HG02135.hp1 NA18955.hp2 NA18974.hp1 |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0002 | a0001c0001t0001g0085 a0001c0003t0001g0058 a0001c0004t0002g0231 |
3 | 143 | 0.0210 | 7 | c.67- others(22): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA4_chr1_93987834_94126148 | 94117007 | T | TTTCTTTC | intron_variant | MODIFIER | HG01243.hp2 HG03471.hp2 NA18967.hp2 |
a0001a0013 | a0001c0004a0001c0007a0013c0016 | a0001c0004t0001a0001c0007t0001a0013c0016t0001 | a0001c0004t0001g0156 a0001c0007t0001g0154 a0013c0016t0001g0171 |
3 | 280 | 0.0107 | 7 | c.67- others(22): Show |
ABCA4 | ENSG00000198691.14 | transcript | ENST00000370225.4 | protein_coding | 1/49 | chr1 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69263697 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00558.hp1 others(74): Show |
a0001a0002a0008others(4): Show | a0001c0008a0002c0001a0008c0012others(4): Show | a0001c0008t0001a0002c0001t0002a0002c0001t0009others(8): Show | a0001c0008t0001g0084 a0002c0001t0002g0014 a0002c0001t0002g0015 others(74): Show |
77 | 93 | 0.8280 | 7 | c.331 others(26): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 24/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69274839 | C | CTTTTTTT | intron_variant | MODIFIER | HG00741.hp1 HG02615.hp1 NA18967.hp2 others(5): Show |
a0001 | a0001c0002a0001c0010 | a0001c0002t0001a0001c0010t0010 | a0001c0002t0001g0086 a0001c0002t0001g0113 a0001c0002t0001g0123 others(5): Show |
8 | 27 | 0.2963 | 7 | c.259 others(24): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 19/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69299500 | A | ACACACAC | intron_variant | MODIFIER | NA18989.hp1 NA19074.hp1 NA19089.hp2 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0250 a0002c0001t0002g0267 a0002c0001t0002g0307 |
3 | 346 | 0.0087 | 7 | c.126 others(26): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303759 | T | TAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00642.hp2 others(13): Show |
a0001a0002 | a0001c0002a0001c0004a0001c0006others(1): Show | a0001c0002t0001a0001c0004t0005a0001c0006t0001others(1): Show | a0001c0002t0001g0059 a0001c0002t0001g0062 a0001c0002t0001g0067 others(13): Show |
16 | 170 | 0.0941 | 7 | c.931 others(22): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69303785 | A | AAAAAAAT | intron_variant | MODIFIER | HG01358.hp2 HG01978.hp2 HG02004.hp2 others(7): Show |
a0002a0008 | a0002c0001a0008c0012 | a0002c0001t0002a0002c0001t0009a0002c0001t0024others(1): Show | a0002c0001t0002g0210 a0002c0001t0002g0225 a0002c0001t0002g0226 others(7): Show |
10 | 246 | 0.0407 | 7 | c.931 others(22): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 7/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69144815 | T | TCTCCCTC | upstream_gene_variant | MODIFIER | HG02451.hp1 HG02572.hp1 HG03098.hp2 others(3): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0012 a0003c0003t0001g0267 a0003c0003t0001g0268 others(2): Show |
6 | 324 | 0.0185 | 7 | c.-31 others(18): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 2921 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68918930 | C | CAAAAAAA | intron_variant | MODIFIER | HG01346.hp1 HG02055.hp2 HG02071.hp2 others(8): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(5): Show | a0001c0001t0001g0118 a0001c0001t0001g0213 a0001c0002t0001g0241 others(7): Show |
11 | 173 | 0.0636 | 7 | c.178 others(24): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 14/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68922194 | C | CTTTTTTT | intron_variant | MODIFIER | HG01258.hp1 HG01516.hp1 HG02523.hp2 others(7): Show |
a0001a0011a0026others(1): Show | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0001g0092 a0001c0001t0001g0206 a0001c0001t0001g0235 others(7): Show |
10 | 50 | 0.2000 | 7 | c.150 others(22): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 12/39 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958527 | T | TATATATA | upstream_gene_variant | MODIFIER | NA18952.hp1 NA19060.hp2 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0081 a0001c0001t0001g0082 a0001c0001t0001g0083 |
3 | 271 | 0.0111 | 7 | c.-34 others(18): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3136 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958556 | T | TATATATA | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02451.hp1 others(3): Show |
a0001a0007a0008others(2): Show | a0001c0001a0007c0040a0008c0025others(2): Show | a0001c0001t0001a0007c0040t0001a0008c0025t0001others(2): Show | a0001c0001t0001g0116 a0001c0001t0001g0118 a0007c0040t0001g0120 others(3): Show |
6 | 271 | 0.0221 | 7 | c.-35 others(18): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3165 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958590 | A | AATATATT | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG02451.hp1 others(3): Show |
a0001a0007a0008others(2): Show | a0001c0001a0007c0040a0008c0025others(2): Show | a0001c0001t0001a0007c0040t0001a0008c0025t0001others(2): Show | a0001c0001t0001g0116 a0001c0001t0001g0118 a0007c0040t0001g0120 others(3): Show |
6 | 204 | 0.0294 | 7 | c.-35 others(18): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3199 | chr17 | TogoVar | |||||||
ABCA8_chr17_68862289_68960392 | 68958892 | T | TTAAAATA | upstream_gene_variant | MODIFIER | HG01346.hp1 HG02145.hp2 HG02451.hp2 others(12): Show |
a0003a0005a0008others(2): Show | a0003c0008a0003c0026a0003c0029others(6): Show | a0003c0008t0001a0003c0026t0001a0003c0029t0001others(6): Show | a0003c0008t0001g0108 a0003c0008t0001g0110 a0003c0008t0001g0113 others(11): Show |
15 | 271 | 0.0554 | 7 | c.-38 others(18): Show |
ABCA8 | ENSG00000141338.15 | transcript | ENST00000586539.6 | protein_coding | 3501 | chr17 | TogoVar | |||||||
ABCB10_chr1_229511582_229563707 | 229535038 | T | TAAAAAAA | intron_variant | MODIFIER | HG01071.hp2 HG01123.hp1 HG01168.hp2 others(21): Show |
a0001a0004 | a0001c0002a0004c0005 | a0001c0002t0001a0001c0002t0002a0004c0005t0005 | a0001c0002t0001g0045 a0001c0002t0001g0050 a0001c0002t0001g0052 others(19): Show |
24 | 113 | 0.2124 | 7 | c.134 others(26): Show |
ABCB10 | ENSG00000135776.5 | transcript | ENST00000344517.5 | protein_coding | 6/12 | chr1 | TogoVar | |||||||
ABCB11_chr2_168915781_169036324 | 169029724 | C | CTTTTTTT | intron_variant | MODIFIER | HG02572.hp1 HG02897.hp2 HG02976.hp2 others(3): Show |
a0001a0002 | a0001c0007a0001c0016a0001c0066others(2): Show | a0001c0007t0001a0001c0016t0008a0001c0016t0033others(3): Show | a0001c0007t0001g0292 a0001c0016t0008g0295 a0001c0016t0033g0293 others(3): Show |
6 | 134 | 0.0448 | 7 | c.-28 others(24): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 1/27 | chr2 | TogoVar | |||||||
ABCB1_chr7_87498017_87605884 | 87516731 | C | CTTTTTTT | intron_variant | MODIFIER | HG02109.hp1 HG02630.hp1 HG02886.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0003a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0003g0036 a0001c0001t0003g0038 a0001c0001t0004g0182 others(4): Show |
7 | 172 | 0.0407 | 7 | c.292 others(22): Show |
ABCB1 | ENSG00000085563.15 | transcript | ENST00000622132.5 | protein_coding | 23/27 | chr7 | TogoVar | |||||||
ABCB5_chr7_20610667_20762008 | 20679471 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(74): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0005a0002c0012others(32): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(41): Show | a0001c0001t0001g0001 a0001c0001t0001g0232 a0001c0001t0001g0275 others(72): Show |
77 | 93 | 0.8280 | 7 | c.170 others(26): Show |
ABCB5 | ENSG00000004846.17 | transcript | ENST00000404938.7 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |