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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGMO_chr7_15195317_15567015 | 15408970 | AAGAAG | A | intron_variant | MODIFIER | HG01257.hp1 HG03098.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0008 | a0001c0003t0001g0141a0001c0003t0001g0146a0001c0003t0001g0165others(2): Show | 5 | 236 | 0.0212 | -5 | c.609 others(22): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 5/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15423096 | CTTTAT | C | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00597.hp1 others(50): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0018a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0028others(50): Show | 53 | 236 | 0.2246 | -5 | c.514 others(22): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15427711 | GATAGA | G | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp2 HG02622.hp2 others(8): Show |
a0001a0003a0004 | a0001c0001a0001c0005a0003c0006others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0005t0003others(5): Show | a0001c0001t0001g0173a0001c0001t0001g0185a0001c0001t0005g0049others(8): Show | 11 | 236 | 0.0466 | -5 | c.513 others(22): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15427712 | ATAGAG | A | intron_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG00597.hp1 others(80): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0025a0001c0001t0001g0026a0001c0001t0001g0028others(80): Show | 83 | 236 | 0.3517 | -5 | c.513 others(22): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 4/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15437531 | CTTTTT | C | intron_variant | MODIFIER | HG01517.hp2 HG02258.hp2 HG02895.hp2 others(3): Show |
a0001a0002a0016 | a0001c0001a0001c0011a0002c0002others(1): Show | a0001c0001t0001a0001c0011t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0040a0001c0001t0001g0164a0001c0011t0001g0050others(3): Show | 6 | 236 | 0.0254 | -5 | c.410 others(22): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15529758 | ATATAT | A | intron_variant | MODIFIER | HG02486.hp1 HG03139.hp1 |
a0006 | a0006c0012 | a0006c0012t0001a0006c0012t0003 | a0006c0012t0001g0222a0006c0012t0003g0223 | 2 | 236 | 0.0085 | -5 | c.409 others(24): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGO2_chr8_140515156_140640633 | 140574267 | GTTTTA | G | intron_variant | MODIFIER | HG02109.hp2 HG02258.hp1 HG03041.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0089a0001c0001t0111others(7): Show | a0001c0001t0001g0226a0001c0001t0089g0027a0001c0001t0111g0028others(9): Show | 12 | 338 | 0.0355 | -5 | c.216 others(22): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 2/18 | chr8 | TogoVar | ||||||
AGO2_chr8_140515156_140640633 | 140597469 | CCCCCA | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(153): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(84): Show | a0001c0001t0001g0008a0001c0001t0001g0062a0001c0001t0001g0126others(153): Show | 156 | 338 | 0.4615 | -5 | c.23- others(22): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
AGO3_chr1_35926105_36077500 | 35954308 | CTATAA | C | intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01884.hp2 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0011a0001c0001t0012a0001c0001t0015others(5): Show | a0001c0001t0011g0032a0001c0001t0011g0044a0001c0001t0011g0047others(16): Show | 19 | 258 | 0.0736 | -5 | c.191 others(22): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGO3_chr1_35926105_36077500 | 35967399 | ATTTAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(104): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(36): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0003others(104): Show | 107 | 258 | 0.4147 | -5 | c.312 others(20): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 3/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGO3_chr1_35926105_36077500 | 35995210 | ATATAT | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG01074.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0025a0001c0001t0054others(2): Show | a0001c0001t0005g0014a0001c0001t0005g0017a0001c0001t0005g0018others(8): Show | 11 | 258 | 0.0426 | -5 | c.659 others(22): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 5/18 | chr1 | TogoVar | ||||||
AGO3_chr1_35926105_36077500 | 36026983 | GGTGAC | G | intron_variant | MODIFIER | HG01069.hp1 HG02486.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0039a0001c0001t0014g0056a0001c0001t0014g0057 | 3 | 258 | 0.0116 | -5 | c.140 others(22): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 11/18 | chr1 | TogoVar | ||||||
AGO3_chr1_35926105_36077500 | 36050832 | CGTTTT | C | intron_variant | MODIFIER | HG02129.hp2 HG03098.hp2 HG03139.hp1 others(3): Show |
a0001 | a0001c0003a0001c0005a0001c0006 | a0001c0003t0020a0001c0003t0031a0001c0003t0032others(2): Show | a0001c0003t0020g0129a0001c0003t0020g0250a0001c0003t0031g0249others(3): Show | 6 | 258 | 0.0233 | -5 | c.227 others(24): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 17/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGPAT1_chr6_32163212_32181084 | 32165613 | TACAAA | T | downstream_gene_variant | MODIFIER | HG01934.hp2 HG01975.hp1 HG01993.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014a0001c0001t0001g0029 | 7 | 445 | 0.0157 | -5 | c.*36 others(16): Show |
AGPAT1 | ENSG00000204310.13 | transcript | ENST00000375107.8 | protein_coding | 2598 | chr6 | TogoVar | ||||||
AGPAT3_chr21_43860223_43992592 | 43917834 | GGTGTT | G | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(113): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(36): Show | a0001c0001t0001g0113a0001c0001t0001g0197a0001c0001t0001g0200others(113): Show | 116 | 342 | 0.3392 | -5 | c.-49 others(24): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
AGPAT3_chr21_43860223_43992592 | 43926636 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp2 HG01070.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0028a0001c0001t0001g0035a0001c0001t0001g0036others(12): Show | 15 | 342 | 0.0439 | -5 | c.-49 others(24): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
AGPAT3_chr21_43860223_43992592 | 43958639 | TTGTGG | T | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp2 HG01243.hp2 others(45): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0142a0001c0001t0001g0164a0001c0001t0001g0297others(44): Show | 48 | 342 | 0.1404 | -5 | c.-48 others(20): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
AGPAT4_chr6_161124967_161279061 | 161125132 | GTTTGT | G | downstream_gene_variant | MODIFIER | HG01993.hp1 HG01993.hp2 NA18942.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0028a0001c0002t0016others(1): Show | a0001c0001t0007g0070a0001c0001t0007g0127a0001c0001t0028g0049others(2): Show | 5 | 264 | 0.0189 | -5 | c.*11 others(18): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 4834 | chr6 | TogoVar | ||||||
AGPAT4_chr6_161124967_161279061 | 161127921 | AAAAGT | A | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00544.hp1 HG00735.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(7): Show | a0001c0001t0001g0245a0001c0001t0002g0222a0001c0001t0006g0230others(27): Show | 30 | 264 | 0.1136 | -5 | c.*86 others(16): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2045 | chr6 | TogoVar | ||||||
AGPAT4_chr6_161124967_161279061 | 161235780 | CATTAT | C | intron_variant | MODIFIER | HG02630.hp2 HG02647.hp2 HG02970.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0015a0001c0001t0037others(1): Show | a0001c0001t0008g0210a0001c0001t0015g0211a0001c0001t0015g0212others(2): Show | 5 | 264 | 0.0189 | -5 | c.-89 others(22): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
AGPS_chr2_177387773_177548834 | 177502407 | ATTTTT | A | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp2 others(61): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0158a0001c0001t0001g0160a0001c0001t0001g0194others(61): Show | 64 | 258 | 0.2481 | -5 | c.147 others(24): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGR2_chr7_16786811_16809999 | 16794241 | TTTAAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(301): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(12): Show | a0001c0001t0001g0007a0001c0001t0001g0012a0001c0001t0001g0020others(146): Show | 304 | 460 | 0.6609 | -5 | c.478 others(20): Show |
AGR2 | ENSG00000106541.12 | transcript | ENST00000419304.7 | protein_coding | 7/7 | chr7 | TogoVar | ||||||
AGR3_chr7_16854412_16886983 | 16855409 | CAGAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(119): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0114a0001c0001t0001g0121a0001c0001t0001g0148others(87): Show | 122 | 458 | 0.2664 | -5 | c.*41 others(16): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 4002 | chr7 | TogoVar | ||||||
AGR3_chr7_16854412_16886983 | 16880521 | TCTCCC | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(59): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0039a0001c0001t0001g0042a0001c0001t0001g0046others(46): Show | 62 | 458 | 0.1354 | -5 | c.-28 others(22): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 1/7 | chr7 | TogoVar | ||||||
AGR3_chr7_16854412_16886983 | 16880552 | CTCCTT | C | intron_variant | MODIFIER | HG02280.hp1 HG02895.hp2 HG02897.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0037a0001c0001t0001g0146a0001c0001t0002g0145 | 4 | 458 | 0.0087 | -5 | c.-28 others(22): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 1/7 | chr7 | TogoVar | ||||||
AGRN_chr1_1015120_1061116 | 1057462 | TTTAAA | T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01123.hp1 HG01243.hp2 others(19): Show |
a0001a0002a0009others(2): Show | a0001c0006a0001c0011a0001c0012others(11): Show | a0001c0006t0001a0001c0011t0006a0001c0011t0008others(14): Show | a0001c0006t0001g0006a0001c0011t0006g0010a0001c0011t0008g0050others(18): Show | 22 | 210 | 0.1048 | -5 | c.*24 others(16): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 1347 | chr1 | TogoVar | ||||||
AGTR1_chr3_148692903_148748003 | 148720715 | CACGTT | C | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp1 HG01081.hp2 others(117): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0031a0001c0001t0001g0042a0001c0001t0001g0081others(94): Show | 120 | 350 | 0.3429 | -5 | c.-48 others(24): Show |
AGTR1 | ENSG00000144891.19 | transcript | ENST00000349243.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
AGTRAP_chr1_11731136_11755769 | 11736111 | CGGGCG | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(412): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(166): Show | 415 | 420 | 0.9881 | -5 | c.-97 others(12): Show |
AGTRAP | ENSG00000177674.16 | transcript | ENST00000314340.10 | protein_coding | 24 | chr1 | TogoVar | ||||||
AGTRAP_chr1_11731136_11755769 | 11753267 | CGTTTT | C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG01109.hp2 HG01257.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0012a0001c0001t0001g0019a0001c0001t0001g0029others(9): Show | 27 | 420 | 0.0643 | -5 | c.*30 others(16): Show |
AGTRAP | ENSG00000177674.16 | transcript | ENST00000314340.10 | protein_coding | 2499 | chr1 | TogoVar | ||||||
AGXT2_chr5_34993102_35052949 | 35045764 | CTTTTT | C | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(42): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0021a0003c0006others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0015a0001c0001t0001g0132a0001c0001t0001g0134others(38): Show | 45 | 384 | 0.1172 | -5 | c.88+ others(20): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 1/13 | chr5 | TogoVar | ||||||
AGXT_chr2_240863824_240885500 | 240866075 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00733.hp2 HG00741.hp1 HG01069.hp2 others(16): Show |
a0003a0009 | a0003c0004a0009c0016 | a0003c0004t0006a0009c0016t0002a0009c0016t0009 | a0003c0004t0006g0011a0003c0004t0006g0034a0003c0004t0006g0035others(3): Show | 19 | 444 | 0.0428 | -5 | c.-27 others(16): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 2748 | chr2 | TogoVar | ||||||
AGXT_chr2_240863824_240885500 | 240883680 | ATTTCT | A | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01167.hp2 HG01169.hp1 |
a0001a0010 | a0001c0001a0010c0012 | a0001c0001t0001a0010c0012t0015 | a0001c0001t0001g0001a0010c0012t0015g0080a0010c0012t0015g0081 | 3 | 444 | 0.0068 | -5 | c.*48 others(16): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 3181 | chr2 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246838604 | TGGGCG | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(111): Show |
a0001a0002a0010others(5): Show | a0001c0001a0001c0004a0001c0010others(10): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0009others(15): Show | a0001c0001t0001g0035a0001c0001t0001g0040a0001c0001t0001g0041others(111): Show | 114 | 376 | 0.3032 | -5 | c.*21 others(16): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 493 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246839003 | CTTAGT | C | downstream_gene_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG01175.hp2 others(49): Show |
a0001a0002a0004others(5): Show | a0001c0004a0001c0012a0001c0037others(12): Show | a0001c0004t0002a0001c0004t0008a0001c0004t0012others(17): Show | a0001c0004t0002g0021a0001c0004t0002g0022a0001c0004t0002g0023others(49): Show | 52 | 376 | 0.1383 | -5 | c.*17 others(16): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 94 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246843711 | TAAATA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(116): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(15): Show | a0001c0001t0001g0035a0001c0001t0001g0040a0001c0001t0001g0041others(116): Show | 119 | 376 | 0.3165 | -5 | c.652 others(20): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 34/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246862719 | GTAAGA | G | intron_variant | MODIFIER | HG00733.hp2 HG01433.hp1 HG02055.hp2 others(6): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0224a0003c0003t0001g0280a0003c0003t0001g0281others(6): Show | 9 | 376 | 0.0239 | -5 | c.354 others(22): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 27/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246875040 | CTTATA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00423.hp1 others(101): Show |
a0001a0003a0009others(7): Show | a0001c0001a0001c0004a0001c0018others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(18): Show | a0001c0001t0001g0133a0001c0001t0001g0134a0001c0001t0001g0135others(101): Show | 104 | 376 | 0.2766 | -5 | c.308 others(22): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 24/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246892301 | CTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG00642.hp2 others(82): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0004a0001c0010others(10): Show | a0001c0001t0001a0001c0004t0002a0001c0010t0001others(12): Show | a0001c0001t0001g0046a0001c0001t0001g0169a0001c0001t0001g0175others(81): Show | 85 | 376 | 0.2261 | -5 | c.180 others(22): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 14/35 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246911790 | TTAAGA | T | intron_variant | MODIFIER | HG00741.hp2 HG02630.hp1 HG02723.hp1 |
a0001a0004 | a0001c0001a0001c0007a0004c0005 | a0001c0001t0014a0001c0007t0001a0004c0005t0005 | a0001c0001t0014g0003a0001c0007t0001g0270a0004c0005t0005g0005 | 3 | 376 | 0.0080 | -5 | c.556 others(22): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4/35 | chr1 | TogoVar | ||||||
AHCYL1_chr1_109979765_110028742 | 110022374 | CAAAAA | C | 3_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02258.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0019 | a0001c0001t0004g0013a0001c0001t0004g0031a0001c0001t0004g0106others(5): Show | 12 | 350 | 0.0343 | -5 | c.*70 others(14): Show |
AHCYL1 | ENSG00000168710.18 | transcript | ENST00000369799.10 | protein_coding | 17/17 | 705 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
AHCYL2_chr7_129220030_129435211 | 129251317 | ATTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG01993.hp1 HG02451.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0002g0075a0001c0002t0001g0265a0001c0002t0002g0191others(3): Show | 6 | 292 | 0.0206 | -5 | c.363 others(24): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129269582 | GGTTTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(285): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0002a0001c0001t0001g0012a0001c0001t0001g0013others(285): Show | 288 | 292 | 0.9863 | -5 | c.363 others(24): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129294017 | TTTAGA | T | intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 HG01099.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0115a0001c0001t0001g0122a0001c0001t0001g0124others(23): Show | 26 | 292 | 0.0890 | -5 | c.363 others(24): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129399141 | CAAAAA | C | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0027others(1): Show | a0001c0001t0002g0185a0001c0001t0006g0116a0001c0001t0006g0117others(5): Show | 8 | 292 | 0.0274 | -5 | c.824 others(22): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHDC1_chr1_27529245_27609144 | 27546328 | CTTTTA | C | intron_variant | MODIFIER | HG00642.hp1 HG01074.hp2 HG01884.hp2 others(10): Show |
a0001a0003a0004 | a0001c0006a0003c0004a0003c0009others(1): Show | a0001c0006t0008a0003c0004t0001a0003c0004t0002others(5): Show | a0001c0006t0008g0051a0001c0006t0008g0067a0001c0006t0008g0147others(10): Show | 13 | 180 | 0.0722 | -5 | c.*43 others(20): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
AHDC1_chr1_27529245_27609144 | 27592880 | AGAGAG | A | intron_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01071.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0009a0003c0004t0001 | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0056others(5): Show | 10 | 180 | 0.0556 | -5 | c.-62 others(26): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 3/8 | chr1 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135283884 | CTGACA | C | 3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG02922.hp2 HG03471.hp1 |
a0001 | a0001c0003a0001c0013a0001c0018 | a0001c0003t0013a0001c0013t0007a0001c0018t0007 | a0001c0003t0013g0046a0001c0013t0007g0168a0001c0018t0007g0175 | 3 | 220 | 0.0136 | -5 | c.*17 others(16): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 29/29 | 1756 | chr6 | TogoVar | |||||
AHI1_chr6_135278532_135502740 | 135294324 | TCAAAA | T | intron_variant | MODIFIER | HG01070.hp2 HG01884.hp1 HG01891.hp2 others(19): Show |
a0001a0006 | a0001c0001a0001c0006a0006c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0002g0081a0001c0001t0003g0012a0001c0001t0003g0032others(19): Show | 22 | 220 | 0.1000 | -5 | c.348 others(24): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 27/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135297234 | CACATT | C | intron_variant | MODIFIER | HG03225.hp2 HG03486.hp1 NA18906.hp1 others(1): Show |
a0001a0008 | a0001c0001a0008c0019 | a0001c0001t0003a0008c0019t0003 | a0001c0001t0003g0012a0001c0001t0003g0177a0001c0001t0003g0178others(1): Show | 4 | 220 | 0.0182 | -5 | c.348 others(24): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 27/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135362997 | AGATTT | A | intron_variant | MODIFIER | HG02056.hp1 HG03710.hp2 HG03834.hp2 others(6): Show |
a0001 | a0001c0002a0001c0014 | a0001c0002t0001a0001c0002t0004a0001c0014t0004 | a0001c0002t0001g0021a0001c0002t0001g0023a0001c0002t0001g0025others(6): Show | 9 | 220 | 0.0409 | -5 | c.311 others(24): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar |