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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ABCA5_chr17_69239311_69332133 | 69274839 | CT | C | intron_variant | MODIFIER | HG02148.hp2 HG02717.hp1 HG02976.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0012a0002c0001t0002a0002c0001t0009 | a0001c0002t0012g0011 a0001c0002t0012g0012 a0001c0002t0012g0013 others(3): Show |
6 | 25 | 0.2400 | -1 | c.259 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 19/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69278595 | AT | A | intron_variant | MODIFIER | HG01358.hp2 HG01952.hp1 HG01975.hp1 others(5): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0210 a0002c0001t0002g0225 a0002c0001t0002g0226 others(5): Show |
8 | 348 | 0.0230 | -1 | c.239 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69282765 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(307): Show |
a0001a0002a0003others(12): Show | a0001c0002a0001c0004a0001c0006others(21): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0020others(44): Show | a0001c0002t0001g0003 a0001c0002t0001g0044 a0001c0002t0001g0045 others(303): Show |
310 | 347 | 0.8934 | -1 | c.239 others(10): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69282980 | CT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(96): Show |
a0001a0002a0004others(5): Show | a0001c0002a0001c0004a0001c0010others(7): Show | a0001c0002t0001a0001c0004t0005a0001c0004t0027others(13): Show | a0001c0002t0001g0077 a0001c0004t0005g0017 a0001c0004t0005g0323 others(96): Show |
99 | 293 | 0.3379 | -1 | c.239 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 18/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69285315 | CT | C | intron_variant | MODIFIER | HG00280.hp1 HG01346.hp2 HG06807.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0088 a0001c0002t0001g0092 a0001c0002t0001g0155 |
3 | 348 | 0.0086 | -1 | c.227 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 17/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69285320 | TA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(309): Show |
a0001a0002a0003others(11): Show | a0001c0002a0001c0004a0001c0006others(20): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(42): Show | a0001c0002t0001g0003 a0001c0002t0001g0044 a0001c0002t0001g0045 others(305): Show |
312 | 348 | 0.8966 | -1 | c.227 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 17/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69285472 | AT | A | intron_variant | MODIFIER | NA18947.hp1 NA18989.hp2 NA19003.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0083 a0001c0002t0001g0089 a0001c0002t0001g0154 |
3 | 348 | 0.0086 | -1 | c.227 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 17/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69298691 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(128): Show |
a0002a0007a0008others(5): Show | a0002c0001a0002c0016a0007c0011others(6): Show | a0002c0001t0002a0002c0001t0004a0002c0001t0008others(16): Show | a0002c0001t0002g0014 a0002c0001t0002g0015 a0002c0001t0002g0210 others(127): Show |
131 | 348 | 0.3764 | -1 | c.126 others(10): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69311207 | CA | C | intron_variant | MODIFIER | HG01346.hp1 HG01884.hp2 HG02717.hp1 others(2): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0012a0001c0004t0003a0001c0004t0008 | a0001c0002t0012g0011 a0001c0002t0012g0012 a0001c0002t0012g0013 others(2): Show |
5 | 344 | 0.0145 | -1 | c.308 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 3/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69316490 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp2 others(102): Show |
a0001a0002a0003others(6): Show | a0001c0002a0002c0001a0003c0003others(6): Show | a0001c0002t0001a0002c0001t0002a0002c0001t0009others(13): Show | a0001c0002t0001g0214 a0002c0001t0002g0014 a0002c0001t0002g0015 others(102): Show |
105 | 348 | 0.3017 | -1 | c.-15 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69316592 | TA | T | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp2 others(129): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0004a0001c0006others(11): Show | a0001c0002t0001a0001c0002t0013a0001c0002t0020others(22): Show | a0001c0002t0001g0003 a0001c0002t0001g0044 a0001c0002t0001g0045 others(128): Show |
132 | 309 | 0.4272 | -1 | c.-15 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69317399 | CA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(155): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0004a0002c0001others(11): Show | a0001c0002t0012a0001c0004t0003a0001c0004t0005others(26): Show | a0001c0002t0012g0011 a0001c0002t0012g0012 a0001c0002t0012g0013 others(152): Show |
158 | 212 | 0.7453 | -1 | c.-15 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69318114 | AT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(220): Show |
a0001a0002a0007others(7): Show | a0001c0002a0001c0004a0001c0006others(14): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(27): Show | a0001c0002t0001g0003 a0001c0002t0001g0044 a0001c0002t0001g0045 others(219): Show |
223 | 318 | 0.7013 | -1 | c.-15 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69321206 | TA | T | intron_variant | MODIFIER | HG02615.hp1 HG02723.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0010 | a0001c0010t0010 | a0001c0010t0010g0331 a0001c0010t0010g0332 a0001c0010t0010g0333 others(1): Show |
4 | 348 | 0.0115 | -1 | c.-16 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69322363 | CA | C | intron_variant | MODIFIER | HG01515.hp2 HG02273.hp2 HG03491.hp2 others(4): Show |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0004a0002c0001t0009 | a0002c0001t0002g0215 a0002c0001t0002g0239 a0002c0001t0002g0240 others(4): Show |
7 | 140 | 0.0500 | -1 | c.-16 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69325141 | CA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(199): Show |
a0001a0002a0003others(5): Show | a0001c0002a0001c0004a0001c0006others(13): Show | a0001c0002t0001a0001c0002t0012a0001c0002t0013others(26): Show | a0001c0002t0001g0003 a0001c0002t0001g0044 a0001c0002t0001g0045 others(195): Show |
202 | 232 | 0.8707 | -1 | c.-16 others(9): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1/38 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69328044 | AC | A | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02280.hp2 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0001others(2): Show | a0001c0002t0001a0001c0004t0014a0001c0004t0027others(3): Show | a0001c0002t0001g0065 a0001c0002t0001g0066 a0001c0004t0014g0320 others(6): Show |
9 | 348 | 0.0259 | -1 | c.-10 others(6): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 912 | chr17 | TogoVar | |||||||
ABCA5_chr17_69239311_69332133 | 69328316 | GA | G | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG01261.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0001a0002c0001t0002a0002c0001t0032 | a0001c0002t0001g0111 a0002c0001t0002g0015 a0002c0001t0002g0260 others(1): Show |
4 | 348 | 0.0115 | -1 | c.-12 others(6): Show |
ABCA5 | ENSG00000154265.16 | transcript | ENST00000392676.8 | protein_coding | 1184 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69074725 | TG | T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01361.hp1 HG02630.hp1 others(1): Show |
a0003a0019 | a0003c0003a0019c0020 | a0003c0003t0001a0019c0020t0001 | a0003c0003t0001g0011 a0003c0003t0001g0262 a0003c0003t0001g0278 others(1): Show |
4 | 324 | 0.0123 | -1 | c.*42 others(6): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 3976 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69075742 | TA | T | downstream_gene_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02451.hp2 others(3): Show |
a0003a0006 | a0003c0009a0006c0010 | a0003c0009t0001a0006c0010t0001 | a0003c0009t0001g0167 a0003c0009t0001g0168 a0003c0009t0001g0258 others(3): Show |
6 | 324 | 0.0185 | -1 | c.*32 others(6): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 2959 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69084670 | CT | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(116): Show |
a0001a0002a0006others(5): Show | a0001c0001a0002c0002a0006c0013others(5): Show | a0001c0001t0001a0002c0002t0001a0006c0013t0001others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(95): Show |
119 | 282 | 0.4220 | -1 | c.418 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 32/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69091957 | TA | T | intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01071.hp2 others(30): Show |
a0003a0006a0019 | a0003c0003a0003c0009a0006c0007others(2): Show | a0003c0003t0001a0003c0009t0001a0006c0007t0001others(2): Show | a0003c0003t0001g0011 a0003c0003t0001g0012 a0003c0003t0001g0259 others(22): Show |
33 | 323 | 0.1022 | -1 | c.340 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 25/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69097390 | CA | C | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01070.hp1 others(43): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0002a0003c0003others(8): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(9): Show | a0001c0001t0001g0040 a0001c0001t0001g0096 a0002c0002t0002g0175 others(37): Show |
46 | 307 | 0.1498 | -1 | c.312 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 23/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69100631 | GA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(236): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0002c0019others(15): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(18): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(202): Show |
239 | 322 | 0.7422 | -1 | c.301 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 22/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69101595 | CA | C | intron_variant | MODIFIER | HG01169.hp1 HG01169.hp2 HG01256.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0002a0004c0004t0002 | a0001c0001t0001g0015 a0001c0001t0001g0070 a0002c0002t0002g0177 others(2): Show |
6 | 302 | 0.0199 | -1 | c.287 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 21/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69103911 | CT | C | intron_variant | MODIFIER | HG01167.hp2 HG02040.hp1 HG03704.hp1 others(3): Show |
a0004a0005 | a0004c0004a0005c0005 | a0004c0004t0002a0005c0005t0002 | a0004c0004t0002g0146 a0005c0005t0002g0007 a0005c0005t0002g0151 others(1): Show |
6 | 48 | 0.1250 | -1 | c.274 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69104663 | AC | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(167): Show |
a0001a0002a0003others(15): Show | a0001c0001a0002c0002a0002c0019others(17): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(20): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0042 others(146): Show |
170 | 324 | 0.5247 | -1 | c.274 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69104814 | CA | C | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(9): Show |
a0006 | a0006c0007a0006c0010 | a0006c0007t0001a0006c0010t0001 | a0006c0007t0001g0008 a0006c0007t0001g0023 a0006c0007t0001g0024 others(5): Show |
12 | 323 | 0.0372 | -1 | c.274 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69105384 | CT | C | intron_variant | MODIFIER | HG02040.hp2 NA19054.hp2 NA19086.hp1 others(1): Show |
a0002a0010a0025 | a0002c0002a0010c0014a0025c0025 | a0002c0002t0002a0010c0014t0002a0025c0025t0002 | a0002c0002t0002g0248 a0010c0014t0002g0247 a0010c0014t0002g0250 others(1): Show |
4 | 324 | 0.0123 | -1 | c.274 others(8): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 20/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69109973 | CT | C | intron_variant | MODIFIER | HG01074.hp1 HG01167.hp2 HG01169.hp2 others(7): Show |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0006 a0004c0004t0002g0142 a0004c0004t0002g0143 others(5): Show |
10 | 324 | 0.0309 | -1 | c.227 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 17/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69111092 | CA | C | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 HG03516.hp2 |
a0003 | a0003c0009 | a0003c0009t0001 | a0003c0009t0001g0167 a0003c0009t0001g0168 a0003c0009t0001g0258 |
3 | 324 | 0.0093 | -1 | c.213 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 16/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69112874 | GA | G | intron_variant | MODIFIER | HG00639.hp2 HG01099.hp2 HG01109.hp1 others(31): Show |
a0003a0014a0018others(1): Show | a0003c0003a0003c0009a0014c0021others(2): Show | a0003c0003t0001a0003c0009t0001a0014c0021t0001others(2): Show | a0003c0003t0001g0011 a0003c0003t0001g0012 a0003c0003t0001g0030 others(25): Show |
34 | 324 | 0.1049 | -1 | c.204 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 15/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69117388 | TA | T | intron_variant | MODIFIER | NA18957.hp1 NA18969.hp2 NA18982.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0059 |
4 | 324 | 0.0123 | -1 | c.149 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69130316 | CA | C | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp2 HG01256.hp1 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0014 a0001c0001t0001g0049 a0001c0001t0001g0050 others(5): Show |
10 | 323 | 0.0310 | -1 | c.792 others(8): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 6/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69131573 | TA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(184): Show |
a0001a0003a0004others(11): Show | a0001c0001a0003c0003a0003c0009others(14): Show | a0001c0001t0001a0003c0003t0001a0003c0009t0001others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(152): Show |
187 | 324 | 0.5772 | -1 | c.792 others(9): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 6/38 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146291 | AT | A | upstream_gene_variant | MODIFIER | HG02145.hp2 HG02970.hp1 HG02970.hp2 |
a0001a0006 | a0001c0001a0006c0013 | a0001c0001t0001a0006c0013t0001 | a0001c0001t0001g0089 a0006c0013t0001g0163 a0006c0013t0001g0246 |
3 | 324 | 0.0093 | -1 | c.-45 others(6): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4397 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146306 | AT | A | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00733.hp1 HG01070.hp1 others(48): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0003a0003c0009others(7): Show | a0001c0001t0001a0003c0003t0001a0003c0009t0001others(7): Show | a0001c0001t0001g0111 a0003c0003t0001g0012 a0003c0003t0001g0267 others(42): Show |
51 | 324 | 0.1574 | -1 | c.-46 others(6): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4412 | chr17 | TogoVar | |||||||
ABCA6_chr17_69073702_69146895 | 69146333 | TA | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(115): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0003a0004c0004others(6): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0002others(7): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(95): Show |
118 | 324 | 0.3642 | -1 | c.-46 others(6): Show |
ABCA6 | ENSG00000154262.13 | transcript | ENST00000284425.7 | protein_coding | 4439 | chr17 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1038291 | AG | A | upstream_gene_variant | MODIFIER | HG02723.hp2 NA20805.hp1 NA20905.hp1 |
a0002a0010 | a0002c0003a0002c0009a0010c0008 | a0002c0003t0001a0002c0009t0001a0010c0008t0002 | a0002c0003t0001g0007 a0002c0009t0001g0008 a0010c0008t0002g0014 |
3 | 28 | 0.1071 | -1 | c.-20 others(6): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 1815 | chr19 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1039147 | TG | T | upstream_gene_variant | MODIFIER | HG01071.hp2 HG02071.hp1 HG03688.hp1 others(2): Show |
a0005a0006a0012others(2): Show | a0005c0017a0006c0019a0012c0018others(2): Show | a0005c0017t0001a0006c0019t0002a0012c0018t0001others(2): Show | a0005c0017t0001g0027 a0006c0019t0002g0029 a0012c0018t0001g0028 others(2): Show |
5 | 28 | 0.1786 | -1 | c.-11 others(6): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 959 | chr19 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1040965 | TG | T | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02451.hp2 others(2): Show |
a0004a0007a0008others(1): Show | a0004c0005a0007c0021a0008c0022others(1): Show | a0004c0005t0002a0007c0021t0001a0008c0022t0001others(1): Show | a0004c0005t0002g0002 a0004c0005t0002g0003 a0007c0021t0001g0001 others(2): Show |
5 | 28 | 0.1786 | -1 | c.-13 others(9): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1044238 | CT | C | intron_variant | MODIFIER | NA18983.hp2 NA20805.hp1 NA20805.hp2 others(2): Show |
a0002a0016a0019 | a0002c0003a0002c0009a0016c0006others(1): Show | a0002c0003t0001a0002c0009t0001a0016c0006t0002others(1): Show | a0002c0003t0001g0007 a0002c0003t0001g0009 a0002c0009t0001g0008 others(2): Show |
5 | 21 | 0.2381 | -1 | c.104 others(9): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 10/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1046580 | TG | T | intron_variant | MODIFIER | HG00673.hp2 HG01071.hp1 HG02071.hp2 others(4): Show |
a0001a0014a0017 | a0001c0001a0014c0015a0017c0014 | a0001c0001t0003a0014c0015t0001a0017c0014t0002 | a0001c0001t0003g0015 a0001c0001t0003g0016 a0001c0001t0003g0017 others(4): Show |
7 | 25 | 0.2800 | -1 | c.162 others(9): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 13/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1048191 | TA | T | intron_variant | MODIFIER | HG00673.hp1 HG01071.hp1 HG01071.hp2 others(8): Show |
a0001a0002a0003others(7): Show | a0001c0001a0002c0003a0003c0004others(7): Show | a0001c0001t0003a0002c0003t0001a0003c0004t0001others(7): Show | a0001c0001t0003g0015 a0001c0001t0003g0017 a0002c0003t0001g0007 others(8): Show |
11 | 21 | 0.5238 | -1 | c.226 others(9): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1048509 | AC | A | intron_variant | MODIFIER | HG01071.hp2 HG03688.hp1 HG03688.hp2 |
a0005a0012a0013 | a0005c0017a0012c0018a0013c0012 | a0005c0017t0001a0012c0018t0001a0013c0012t0001 | a0005c0017t0001g0027 a0012c0018t0001g0028 a0013c0012t0001g0026 |
3 | 28 | 0.1071 | -1 | c.227 others(9): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1048823 | AC | A | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 HG02451.hp2 |
a0004a0007a0008 | a0004c0005a0007c0021a0008c0022 | a0004c0005t0002a0007c0021t0001a0008c0022t0001 | a0004c0005t0002g0003 a0007c0021t0001g0001 a0008c0022t0001g0004 |
3 | 28 | 0.1071 | -1 | c.227 others(8): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 16/46 | chr19 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1049490 | GC | G | intron_variant | MODIFIER | HG00673.hp1 HG01071.hp2 HG02071.hp1 others(4): Show |
a0003a0005a0006others(3): Show | a0003c0004a0005c0017a0006c0019others(3): Show | a0003c0004t0001a0005c0017t0001a0006c0019t0002others(3): Show | a0003c0004t0001g0021 a0003c0004t0001g0023 a0005c0017t0001g0027 others(4): Show |
7 | 25 | 0.2800 | -1 | c.255 others(8): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1049641 | AG | A | intron_variant | MODIFIER | HG03688.hp2 NA19066.hp2 |
a0001a0013 | a0001c0001a0013c0012 | a0001c0001t0003a0013c0012t0001 | a0001c0001t0003g0019 a0013c0012t0001g0026 |
2 | 28 | 0.0714 | -1 | c.255 others(9): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1049718 | AG | A | intron_variant | MODIFIER | HG02451.hp1 HG02970.hp2 HG03688.hp2 |
a0007a0011a0013 | a0007c0021a0011c0020a0013c0012 | a0007c0021t0001a0011c0020t0002a0013c0012t0001 | a0007c0021t0001g0001 a0011c0020t0002g0020 a0013c0012t0001g0026 |
3 | 28 | 0.1071 | -1 | c.255 others(9): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ABCA7_chr19_1035107_1070572 | 1049769 | AG | A | intron_variant | MODIFIER | HG02145.hp2 HG03688.hp2 NA19066.hp2 |
a0001a0004a0013 | a0001c0001a0004c0005a0013c0012 | a0001c0001t0003a0004c0005t0002a0013c0012t0001 | a0001c0001t0003g0019 a0004c0005t0002g0003 a0013c0012t0001g0026 |
3 | 28 | 0.1071 | -1 | c.255 others(9): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | TogoVar |