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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
A2ML1_chr12_8817621_8881787 | 8832979 | C | CTTTTT | intron_variant | MODIFIER | HG01069.hp1 HG01074.hp1 HG01168.hp1 others(11): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0005a0001c0050others(8): Show | a0001c0001t0001a0001c0005t0002a0001c0050t0004others(8): Show | a0001c0001t0001g0025 a0001c0005t0002g0242 a0001c0050t0004g0313 others(11): Show |
14 | 38 | 0.3684 | 5 | c.463 others(22): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 4/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2ML1_chr12_8817621_8881787 | 8845865 | T | TAAATA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(258): Show |
a0001a0002a0004others(15): Show | a0001c0001a0001c0002a0001c0003others(27): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0025 a0001c0001t0001g0040 a0001c0001t0001g0046 others(254): Show |
261 | 314 | 0.8312 | 5 | c.153 others(22): Show |
A2ML1 | ENSG00000166535.20 | transcript | ENST00000299698.12 | protein_coding | 13/35 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
A2M_chr12_9062708_9120919 | 9108099 | G | GTTTAT | intron_variant | MODIFIER | HG00544.hp1 HG00621.hp2 HG01074.hp2 others(19): Show |
a0001a0006 | a0001c0001a0001c0017a0001c0026others(1): Show | a0001c0001t0001a0001c0017t0001a0001c0026t0001others(1): Show | a0001c0001t0001g0033 a0001c0001t0001g0157 a0001c0001t0001g0158 others(18): Show |
22 | 153 | 0.1438 | 5 | c.759 others(20): Show |
A2M | ENSG00000175899.15 | transcript | ENST00000318602.12 | protein_coding | 7/35 | chr12 | TogoVar | |||||||
A3GALT2_chr1_33301766_33326098 | 33313175 | G | GTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00609.hp1 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0024 a0001c0001t0001g0046 others(11): Show |
43 | 95 | 0.4526 | 5 | c.24- others(18): Show |
A3GALT2 | ENSG00000184389.9 | transcript | ENST00000442999.3 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42714274 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00673.hp1 others(39): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0010others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(12): Show | a0001c0001t0002g0249 a0001c0001t0002g0250 a0001c0001t0004g0234 others(37): Show |
42 | 165 | 0.2545 | 5 | c.-18 others(24): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1/2 | chr22 | TogoVar | |||||||
A4GALT_chr22_42687121_42725870 | 42722223 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02145.hp2 HG02258.hp2 others(3): Show |
a0001a0002 | a0001c0002a0002c0003a0002c0008 | a0001c0002t0009a0002c0003t0001a0002c0008t0001 | a0001c0002t0009g0255 a0002c0003t0001g0253 a0002c0003t0001g0257 others(3): Show |
6 | 69 | 0.0870 | 5 | c.-16 others(16): Show |
A4GALT | ENSG00000128274.17 | transcript | ENST00000642412.2 | protein_coding | 1354 | chr22 | TogoVar | |||||||
AACS_chr12_125060435_125148316 | 125103987 | C | CAAAAA | intron_variant | MODIFIER | HG00597.hp1 HG01074.hp2 HG01109.hp2 others(33): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0007 a0001c0001t0001g0029 a0001c0001t0001g0057 others(32): Show |
36 | 52 | 0.6923 | 5 | c.767 others(20): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AACS_chr12_125060435_125148316 | 125126869 | C | CAGGCA | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp1 HG03098.hp2 others(3): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0001a0002c0007t0001 | a0002c0002t0001g0008 a0002c0002t0001g0009 a0002c0002t0001g0011 others(3): Show |
6 | 362 | 0.0166 | 5 | c.131 others(24): Show |
AACS | ENSG00000081760.17 | transcript | ENST00000316519.11 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
AADACL2_chr3_151728927_151766339 | 151762915 | T | TAAAGA | downstream_gene_variant | MODIFIER | HG01069.hp2 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0021a0001c0001t0022others(1): Show | a0001c0001t0005g0016 a0001c0001t0005g0019 a0001c0001t0005g0049 others(13): Show |
21 | 426 | 0.0493 | 5 | c.*53 others(16): Show |
AADACL2 | ENSG00000197953.6 | transcript | ENST00000356517.4 | protein_coding | 1577 | chr3 | TogoVar | |||||||
AADAC_chr3_151809116_151833488 | 151820516 | C | CTTTTT | intron_variant | MODIFIER | HG01361.hp1 HG02738.hp2 HG03098.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0090 a0001c0001t0002g0056 a0001c0001t0002g0074 others(5): Show |
8 | 143 | 0.0559 | 5 | c.431 others(18): Show |
AADAC | ENSG00000114771.14 | transcript | ENST00000232892.12 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
AADAT_chr4_170055222_170094956 | 170056433 | A | ATATAT | downstream_gene_variant | MODIFIER | HG01109.hp2 HG01168.hp2 HG03669.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 a0001c0001t0003g0080 a0001c0001t0003g0198 |
3 | 334 | 0.0090 | 5 | c.*44 others(16): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3788 | chr4 | TogoVar | |||||||
AADAT_chr4_170055222_170094956 | 170056435 | A | ATATAT | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01978.hp1 HG03654.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0104 others(3): Show |
7 | 167 | 0.0419 | 5 | c.*44 others(16): Show |
AADAT | ENSG00000109576.14 | transcript | ENST00000337664.9 | protein_coding | 3786 | chr4 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69493158 | C | CAAAAA | intron_variant | MODIFIER | HG01175.hp1 HG02293.hp1 HG02970.hp1 others(4): Show |
a0001a0002 | a0001c0004a0002c0002 | a0001c0004t0012a0002c0002t0004a0002c0002t0006others(2): Show | a0001c0004t0012g0076 a0002c0002t0004g0243 a0002c0002t0006g0239 others(4): Show |
7 | 76 | 0.0921 | 5 | c.236 others(24): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 17/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69524412 | T | TTTTTG | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG02109.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0008a0004c0013 | a0001c0001t0001a0001c0001t0041a0001c0008t0093others(2): Show | a0001c0001t0001g0130 a0001c0001t0041g0287 a0001c0008t0093g0138 others(2): Show |
5 | 83 | 0.0602 | 5 | c.105 others(22): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 10/21 | chr2 | TogoVar | |||||||
AAK1_chr2_69452997_69648739 | 69644165 | T | TTCGCG | upstream_gene_variant | MODIFIER | HG00544.hp1 HG01975.hp1 HG01981.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0001c0001t0007a0001c0001t0014others(2): Show | a0001c0001t0005g0218 a0001c0001t0005g0258 a0001c0001t0005g0259 others(6): Show |
9 | 37 | 0.2432 | 5 | c.-82 others(14): Show |
AAK1 | ENSG00000115977.21 | transcript | ENST00000409085.9 | protein_coding | 427 | chr2 | TogoVar | |||||||
AAMDC_chr11_77816144_77877352 | 77852224 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG02055.hp2 HG02273.hp2 others(31): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0001c0002t0002a0002c0003t0001 | a0001c0002t0001g0017 a0001c0002t0001g0028 a0001c0002t0001g0029 others(30): Show |
34 | 37 | 0.9189 | 5 | c.132 others(22): Show |
AAMDC | ENSG00000087884.16 | transcript | ENST00000393427.7 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AAMP_chr2_218259129_218275137 | 218272251 | G | GTTGCA | upstream_gene_variant | MODIFIER | HG01891.hp1 HG01975.hp2 HG02055.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 a0001c0001t0001g0006 |
23 | 398 | 0.0578 | 5 | c.-21 others(16): Show |
AAMP | ENSG00000127837.10 | transcript | ENST00000248450.9 | protein_coding | 2115 | chr2 | TogoVar | |||||||
AANAT_chr17_76462603_76475117 | 76463309 | C | CTTTTT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(97): Show |
a0001a0004a0008 | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0007 others(9): Show |
100 | 115 | 0.8696 | 5 | c.-44 others(16): Show |
AANAT | ENSG00000129673.10 | transcript | ENST00000392492.8 | protein_coding | 4293 | chr17 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70262967 | C | CAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00558.hp2 others(26): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0007a0001c0002t0001 | a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0028 others(26): Show |
29 | 105 | 0.2762 | 5 | c.149 others(22): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 11/20 | chr16 | TogoVar | |||||||
AARS1_chr16_70247298_70294506 | 70293597 | A | ATTTTT | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp1 others(41): Show |
a0001a0010 | a0001c0001a0001c0003a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0045 a0001c0001t0001g0053 others(41): Show |
44 | 133 | 0.3308 | 5 | c.-42 others(16): Show |
AARS1 | ENSG00000090861.17 | transcript | ENST00000261772.13 | protein_coding | 4092 | chr16 | TogoVar | |||||||
AARS2_chr6_44293731_44318347 | 44299991 | A | ATTTAT | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(354): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0011others(16): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(29): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0008 others(78): Show |
357 | 392 | 0.9107 | 5 | c.*55 others(14): Show |
AARS2 | ENSG00000124608.5 | transcript | ENST00000244571.5 | protein_coding | 22/22 | 555 | chr6 | TogoVar | ||||||
AARSD1_chr17_42945526_42969454 | 42956660 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00597.hp1 others(55): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0004 | a0001c0001t0001a0002c0003t0001a0003c0004t0001 | a0001c0001t0001g0002 a0001c0001t0001g0009 a0001c0001t0001g0013 others(26): Show |
58 | 70 | 0.8286 | 5 | c.390 others(20): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 4/11 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42965994 | C | CAAAAA | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01169.hp1 HG02071.hp1 others(12): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0009 others(12): Show |
15 | 54 | 0.2778 | 5 | c.-15 others(16): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 1541 | chr17 | TogoVar | |||||||
AARSD1_chr17_42945526_42969454 | 42967409 | A | AAAATT | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00544.hp2 others(62): Show |
a0001a0004a0005 | a0001c0001a0004c0005a0005c0007 | a0001c0001t0001a0004c0005t0001a0005c0007t0001 | a0001c0001t0001g0003 a0001c0001t0001g0007 a0001c0001t0001g0010 others(31): Show |
65 | 289 | 0.2249 | 5 | c.-29 others(16): Show |
AARSD1 | ENSG00000266967.7 | transcript | ENST00000427569.7 | protein_coding | 2956 | chr17 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56337681 | T | TAAAGA | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(77): Show |
a0001a0003a0009others(1): Show | a0001c0001a0003c0003a0009c0011others(1): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0002others(2): Show | a0001c0001t0001g0125 a0003c0003t0001g0220 a0003c0003t0002g0003 others(69): Show |
80 | 380 | 0.2105 | 5 | c.*72 others(14): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 608 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56377101 | A | AAAATT | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG03195.hp1 |
a0007 | a0007c0009 | a0007c0009t0004 | a0007c0009t0004g0029 a0007c0009t0004g0331 |
3 | 283 | 0.0106 | 5 | c.668 others(22): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 4/14 | chr4 | TogoVar | |||||||
AASDH_chr4_56333290_56392491 | 56386799 | C | CAAAAA | intron_variant | MODIFIER | HG01070.hp2 HG01074.hp2 HG01258.hp1 others(11): Show |
a0001a0003 | a0001c0005a0003c0003 | a0001c0005t0001a0003c0003t0002 | a0001c0005t0001g0284 a0001c0005t0001g0285 a0003c0003t0002g0286 others(11): Show |
14 | 114 | 0.1228 | 5 | c.-43 others(20): Show |
AASDH | ENSG00000157426.14 | transcript | ENST00000205214.11 | protein_coding | 1/14 | chr4 | TogoVar | |||||||
AASS_chr7_122068549_122149249 | 122083054 | G | GAAGAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(274): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0005 others(231): Show |
277 | 382 | 0.7251 | 5 | c.218 others(24): Show |
AASS | ENSG00000008311.16 | transcript | ENST00000417368.7 | protein_coding | 19/23 | chr7 | TogoVar | |||||||
AATF_chr17_36943954_37061871 | 37002997 | G | GAAACA | intron_variant | MODIFIER | HG00408.hp1 HG00544.hp2 HG00558.hp2 others(30): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0003c0005t0001 | a0001c0001t0001g0081 a0001c0001t0001g0096 a0001c0001t0001g0148 others(29): Show |
33 | 244 | 0.1352 | 5 | c.139 others(26): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37009823 | C | CAAAAA | intron_variant | MODIFIER | HG00639.hp2 HG01074.hp1 HG02109.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0064 a0001c0001t0001g0108 a0001c0001t0001g0242 others(8): Show |
11 | 116 | 0.0948 | 5 | c.139 others(24): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37031185 | A | ATGTTG | intron_variant | MODIFIER | HG01891.hp1 HG02109.hp1 HG02257.hp1 others(17): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0001 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0026 others(17): Show |
20 | 244 | 0.0820 | 5 | c.154 others(22): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 10/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATF_chr17_36943954_37061871 | 37037010 | G | GTTTTT | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0038 a0001c0001t0001g0039 others(4): Show |
7 | 198 | 0.0354 | 5 | c.161 others(24): Show |
AATF | ENSG00000275700.6 | transcript | ENST00000619387.5 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
AATK_chr17_81112295_81171221 | 81115494 | T | TGCCCA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01261.hp1 others(29): Show |
a0001a0003a0005others(3): Show | a0001c0001a0003c0009a0003c0023others(9): Show | a0001c0001t0014a0003c0009t0001a0003c0023t0001others(11): Show | a0001c0001t0014g0290 a0003c0009t0001g0239 a0003c0009t0001g0242 others(29): Show |
32 | 365 | 0.0877 | 5 | c.*29 others(16): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1800 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81117174 | G | GGAGGA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00735.hp2 HG01192.hp2 others(26): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0073a0003c0009others(8): Show | a0001c0001t0014a0002c0073t0006a0003c0009t0001others(10): Show | a0001c0001t0014g0290 a0002c0073t0006g0193 a0003c0009t0001g0239 others(26): Show |
29 | 366 | 0.0792 | 5 | c.*12 others(16): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 120 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81119217 | C | CTGGGG | intron_variant | MODIFIER | HG00099.hp2 HG02145.hp2 HG02280.hp2 others(7): Show |
a0003a0005a0020 | a0003c0023a0005c0006a0005c0021others(1): Show | a0003c0023t0001a0005c0006t0003a0005c0006t0019others(2): Show | a0003c0023t0001g0199 a0005c0006t0003g0184 a0005c0006t0003g0226 others(7): Show |
10 | 309 | 0.0324 | 5 | c.408 others(22): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81119256 | A | AGGAGC | intron_variant | MODIFIER | HG00735.hp2 HG01261.hp1 HG01515.hp1 others(5): Show |
a0001a0003a0016others(1): Show | a0001c0001a0003c0009a0003c0027others(3): Show | a0001c0001t0014a0003c0009t0001a0003c0027t0001others(3): Show | a0001c0001t0014g0290 a0003c0009t0001g0253 a0003c0027t0001g0277 others(5): Show |
8 | 365 | 0.0219 | 5 | c.408 others(22): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 13/13 | chr17 | TogoVar | |||||||
AATK_chr17_81112295_81171221 | 81141932 | C | CTTCCT | intron_variant | MODIFIER | HG00621.hp2 HG00639.hp2 HG00738.hp1 others(26): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0011a0002c0064others(8): Show | a0001c0001t0001a0001c0011t0001a0002c0064t0001others(9): Show | a0001c0001t0001g0264 a0001c0001t0001g0316 a0001c0011t0001g0263 others(24): Show |
29 | 366 | 0.0792 | 5 | c.56- others(20): Show |
AATK | ENSG00000181409.14 | transcript | ENST00000326724.9 | protein_coding | 1/13 | chr17 | TogoVar | |||||||
ABAT_chr16_8669617_8789570 | 8679964 | G | GGCATC | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG03453.hp2 |
a0002a0003 | a0002c0002a0003c0010 | a0002c0002t0005a0003c0010t0010 | a0002c0002t0005g0337 a0003c0010t0010g0338 a0003c0010t0010g0339 |
3 | 360 | 0.0083 | 5 | 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 | 8724914 | T | TTTTTC | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(88): Show |
a0001a0002a0006 | a0001c0001a0001c0003a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0011 a0001c0001t0001g0051 a0001c0001t0001g0070 others(88): Show |
91 | 360 | 0.2528 | 5 | 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 | 8726262 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG01943.hp1 HG02630.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0180 a0001c0001t0002g0220 a0001c0001t0004g0066 others(9): Show |
12 | 151 | 0.0795 | 5 | 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 | 8735046 | T | TAAAAA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG01257.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0233 a0001c0001t0001g0267 a0001c0001t0001g0313 others(18): Show |
21 | 147 | 0.1429 | 5 | c.-41 others(20): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8738616 | G | GTTTTT | intron_variant | MODIFIER | HG00140.hp1 HG01074.hp1 HG01243.hp1 others(16): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0004others(1): Show | a0001c0003t0003a0002c0002t0001a0002c0002t0002others(10): Show | a0001c0003t0003g0357 a0002c0002t0001g0021 a0002c0002t0002g0018 others(16): Show |
19 | 322 | 0.0590 | 5 | c.70+ others(20): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8749386 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00741.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0114 a0001c0001t0001g0233 others(8): Show |
11 | 53 | 0.2075 | 5 | c.199 others(22): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 4/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8754179 | T | TAAAAA | intron_variant | MODIFIER | HG01167.hp2 HG01192.hp2 HG01891.hp2 others(6): Show |
a0002a0003 | a0002c0002a0002c0009a0003c0010 | a0002c0002t0001a0002c0002t0006a0002c0002t0010others(2): Show | a0002c0002t0001g0009 a0002c0002t0001g0292 a0002c0002t0001g0329 others(6): Show |
9 | 56 | 0.1607 | 5 | c.317 others(22): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 5/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
ABAT_chr16_8669617_8789570 | 8761076 | T | TAAAAC | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(275): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0011others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0051 others(275): Show |
278 | 360 | 0.7722 | 5 | c.367 others(22): Show |
ABAT | ENSG00000183044.12 | transcript | ENST00000268251.13 | protein_coding | 6/15 | chr16 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69195554 | C | CTTTTT | intron_variant | MODIFIER | HG01070.hp2 HG01167.hp1 HG01256.hp1 others(9): Show |
a0002a0003a0014 | a0002c0002a0003c0003a0014c0020others(1): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0005others(2): Show | a0002c0002t0001g0017 a0002c0002t0001g0046 a0002c0002t0001g0102 others(9): Show |
12 | 24 | 0.5000 | 5 | c.123 others(24): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 11/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69199266 | C | CTTCTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(234): Show |
a0002a0003a0004others(15): Show | a0002c0002a0002c0015a0003c0003others(24): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(31): Show | a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 others(227): Show |
237 | 345 | 0.6870 | 5 | c.117 others(24): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 10/38 | chr17 | TogoVar | |||||||
ABCA10_chr17_69143007_69233824 | 69210605 | C | CATTAT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(192): Show |
a0002a0003a0005others(14): Show | a0002c0002a0002c0015a0003c0003others(21): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(27): Show | a0002c0002t0001g0002 a0002c0002t0001g0006 a0002c0002t0001g0011 others(186): Show |
195 | 346 | 0.5636 | 5 | c.100 others(24): Show |
ABCA10 | ENSG00000154263.18 | transcript | ENST00000690296.1 | protein_coding | 9/38 | chr17 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 214984094 | C | CTTTTT | intron_variant | MODIFIER | HG00423.hp1 HG01106.hp1 HG01106.hp2 others(33): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(20): Show | a0001c0001t0012a0001c0002t0001a0001c0002t0024others(26): Show | a0001c0001t0012g0191 a0001c0002t0001g0051 a0001c0002t0001g0058 others(33): Show |
36 | 185 | 0.1946 | 5 | c.416 others(22): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 28/52 | chr2 | TogoVar | |||||||
ABCA12_chr2_214926542_215143626 | 215071196 | C | CAAATA | intron_variant | MODIFIER | HG02055.hp1 HG02129.hp1 HG02647.hp1 others(9): Show |
a0001a0002a0020 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0011others(7): Show | a0001c0001t0002g0117 a0001c0002t0001g0049 a0001c0002t0011g0165 others(9): Show |
12 | 49 | 0.2449 | 5 | c.164 others(22): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar |