regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
a0001a0002a0003others(6): Show | a0001c0006a0002c0061a0003c0005others(8): Show | a0001c0006t0002a0002c0061t0004a0003c0005t0003others(8): Show | a0001c0006t0002g0243a0002c0061t0004g0314a0003c0005t0003g0080others(11): Show | 14 | 368 | 0.0380 | 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 |
a0001a0002a0003others(20): Show | a0001c0001a0001c0002a0001c0006others(35): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0040a0001c0001t0001g0053a0001c0001t0001g0057others(254): Show | 261 | 368 | 0.7092 | 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 | a0001c0001t0001g0033a0001c0001t0001g0157a0001c0001t0001g0158others(18): Show | 22 | 332 | 0.0663 | 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 | a0001c0001t0000 | a0001c0001t0000g0002a0001c0001t0000g0016a0001c0001t0000g0018others(13): Show | 43 | 418 | 0.1029 | 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 | a0001c0001t0002g0236a0001c0001t0002g0237a0001c0001t0004g0246others(37): Show | 42 | 406 | 0.1035 | 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 | a0001c0002t0009g0242a0002c0003t0001g0240a0002c0003t0001g0244others(3): Show | 6 | 406 | 0.0148 | 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 | a0001c0001t0001g0005a0001c0001t0001g0029a0001c0001t0001g0065others(32): Show | 36 | 364 | 0.0989 | 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 | a0002c0002t0001g0006a0002c0002t0001g0007a0002c0002t0001g0009others(3): Show | 6 | 364 | 0.0165 | 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 | a0001c0001t0006a0001c0001t0063a0001c0001t0064others(3): Show | a0001c0001t0006g0016a0001c0001t0006g0021a0001c0001t0006g0050others(13): Show | 21 | 428 | 0.0491 | 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 | a0001c0001t0001g0091a0001c0001t0002g0057a0001c0001t0002g0075others(5): Show | 8 | 440 | 0.0182 | 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 | a0001c0001t0003g0010a0001c0001t0003g0081a0001c0001t0003g0203 | 3 | 378 | 0.0079 | 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 | a0001c0001t0001g0001a0001c0001t0001g0031a0001c0001t0001g0105others(3): Show | 7 | 378 | 0.0185 | 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 | a0001c0004t0014a0002c0002t0003a0002c0002t0005others(2): Show | a0001c0004t0014g0063a0002c0002t0003g0245a0002c0002t0005g0239others(4): Show | 7 | 298 | 0.0235 | 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 | a0001c0001t0002a0001c0001t0045a0001c0008t0098others(2): Show | a0001c0001t0002g0132a0001c0001t0045g0287a0001c0008t0098g0140others(2): Show | 5 | 298 | 0.0168 | 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 | a0001c0001t0004a0001c0001t0006a0001c0001t0034others(2): Show | a0001c0001t0004g0221a0001c0001t0004g0258a0001c0001t0004g0259others(6): Show | 9 | 298 | 0.0302 | 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 | a0001c0002t0001g0012a0001c0002t0001g0023a0001c0002t0001g0024others(30): Show | 34 | 382 | 0.0890 | 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 | a0001c0001t0001g0005a0001c0001t0001g0006 | 23 | 400 | 0.0575 | 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 |
a0001a0005a0007 | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(9): Show | 100 | 426 | 0.2347 | 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 | a0001c0001t0001g0011a0001c0001t0001g0023a0001c0001t0001g0027others(26): Show | 29 | 362 | 0.0801 | 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(42): Show |
a0001a0010 | a0001c0001a0001c0003a0001c0013others(2): Show | a0001c0001t0001a0001c0001t0007a0001c0003t0001others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0046a0001c0001t0001g0052others(42): Show | 45 | 362 | 0.1243 | 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(355): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0011others(16): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(29): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0008others(79): Show | 358 | 396 | 0.9040 | 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 | a0001c0001a0002c0004a0003c0003 | a0001c0001t0001a0002c0004t0001a0003c0003t0001 | a0001c0001t0001g0002a0001c0001t0001g0009a0001c0001t0001g0013others(26): Show | 58 | 324 | 0.1790 | 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 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0009others(12): Show | 15 | 324 | 0.0463 | 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 |
a0001a0004a0008 | a0001c0001a0004c0005a0008c0007 | a0001c0001t0001a0004c0005t0001a0008c0007t0001 | a0001c0001t0001g0003a0001c0001t0001g0007a0001c0001t0001g0010others(31): Show | 65 | 324 | 0.2006 | 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(78): Show |
a0001a0003a0008others(1): Show | a0001c0001a0003c0003a0008c0011others(1): Show | a0001c0001t0001a0003c0003t0001a0003c0003t0002others(2): Show | a0001c0001t0001g0125a0003c0003t0001g0220a0003c0003t0002g0003others(70): Show | 81 | 382 | 0.2120 | 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 |
a0006 | a0006c0009 | a0006c0009t0004 | a0006c0009t0004g0029a0006c0009t0004g0331 | 3 | 382 | 0.0079 | 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 | a0001c0005t0001g0284a0001c0005t0001g0285a0003c0003t0002g0286others(11): Show | 14 | 382 | 0.0367 | 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(275): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0003a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(31): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0005others(232): Show | 278 | 384 | 0.7240 | 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(31): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0003c0005t0001 | a0001c0001t0001g0081a0001c0001t0001g0096a0001c0001t0001g0147others(30): Show | 34 | 245 | 0.1388 | 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(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0063a0001c0001t0001g0108a0001c0001t0001g0242others(9): Show | 12 | 245 | 0.0490 | 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 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0026others(17): Show | 20 | 245 | 0.0816 | 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 | a0001c0001t0001g0014a0001c0001t0001g0038a0001c0001t0001g0039others(4): Show | 7 | 245 | 0.0286 | 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 | a0001c0001t0016a0003c0009t0001a0003c0023t0001others(11): Show | a0001c0001t0016g0291a0003c0009t0001g0245a0003c0009t0001g0247others(28): Show | 32 | 368 | 0.0870 | 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 | a0001c0001t0016a0002c0073t0007a0003c0009t0001others(10): Show | a0001c0001t0016g0291a0002c0073t0007g0196a0003c0009t0001g0245others(25): Show | 29 | 368 | 0.0788 | 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 |
a0003a0005a0023 | a0003c0023a0005c0006a0005c0021others(1): Show | a0003c0023t0001a0005c0006t0003a0005c0006t0021others(2): Show | a0003c0023t0001g0202a0005c0006t0003g0018a0005c0006t0003g0187others(7): Show | 10 | 368 | 0.0272 | 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 |
a0001a0003a0015others(1): Show | a0001c0001a0003c0009a0003c0027others(3): Show | a0001c0001t0016a0003c0009t0001a0003c0027t0001others(3): Show | a0001c0001t0016g0291a0003c0009t0001g0257a0003c0027t0001g0281others(5): Show | 8 | 368 | 0.0217 | 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 | a0001c0001t0001g0273a0001c0001t0001g0305a0001c0011t0001g0267others(24): Show | 29 | 368 | 0.0788 | 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 | a0002c0002t0005g0343a0003c0010t0010g0342a0003c0010t0010g0344 | 3 | 362 | 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 |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0011others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0058others(88): Show | 91 | 362 | 0.2514 | 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 | a0001c0001t0001g0185a0001c0001t0002g0226a0001c0001t0004g0080others(9): Show | 12 | 362 | 0.0332 | 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 | a0001c0001t0001g0239a0001c0001t0001g0272a0001c0001t0001g0318others(18): Show | 21 | 362 | 0.0580 | 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 | a0001c0003t0003g0357a0002c0002t0001g0021a0002c0002t0002g0018others(16): Show | 19 | 362 | 0.0525 | 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 | a0001c0001t0001g0011a0001c0001t0001g0108a0001c0001t0001g0239others(8): Show | 11 | 362 | 0.0304 | 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 | a0002c0002t0001g0010a0002c0002t0001g0297a0002c0002t0001g0334others(6): Show | 9 | 362 | 0.0249 | 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(276): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0003a0001c0011others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(72): Show | a0001c0001t0001g0011a0001c0001t0001g0024a0001c0001t0001g0038others(276): Show | 279 | 362 | 0.7707 | 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 |
a0002a0003a0013 | a0002c0002a0003c0003a0013c0020others(1): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0005others(2): Show | a0002c0002t0001g0014a0002c0002t0001g0043a0002c0002t0001g0098others(9): Show | 12 | 348 | 0.0345 | 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(235): Show |
a0002a0003a0004others(15): Show | a0002c0002a0002c0015a0003c0003others(24): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(31): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(230): Show | 238 | 348 | 0.6839 | 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(193): Show |
a0002a0003a0005others(14): Show | a0002c0002a0002c0015a0003c0003others(21): Show | a0002c0002t0001a0002c0002t0005a0002c0015t0001others(27): Show | a0002c0002t0001g0002a0002c0002t0001g0008a0002c0002t0001g0014others(189): Show | 196 | 348 | 0.5632 | 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 | a0001c0001t0012g0191a0001c0002t0001g0051a0001c0002t0001g0058others(33): Show | 36 | 198 | 0.1818 | 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 |
a0001a0002a0011 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0011others(7): Show | a0001c0001t0002g0118a0001c0002t0001g0050a0001c0002t0011g0165others(9): Show | 12 | 198 | 0.0606 | 5 | c.164 others(22): Show |
ABCA12 | ENSG00000144452.15 | transcript | ENST00000272895.12 | protein_coding | 2/52 | chr2 | TogoVar |