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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGMO_chr7_15195317_15567015 | 15531535 | C | CTATATAT others(4): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02109.hp2 HG02486.hp1 others(2): Show |
a0001a0006 | a0001c0001a0006c0012 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0182 a0001c0001t0002g0192 a0001c0001t0003g0181 others(2): Show |
5 | 77 | 0.0649 | 11 | c.409 others(30): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGMO_chr7_15195317_15567015 | 15531598 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG02809.hp2 HG02976.hp1 |
a0001a0010 | a0001c0001a0010c0021 | a0001c0001t0003a0010c0021t0001 | a0001c0001t0003g0043 a0010c0021t0001g0042 |
2 | 233 | 0.0086 | 11 | c.409 others(30): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
AGO3_chr1_35926105_36077500 | 36003694 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02257.hp1 HG02630.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0065 a0001c0001t0003g0074 a0001c0001t0003g0122 others(1): Show |
4 | 199 | 0.0201 | 11 | c.659 others(26): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGO3_chr1_35926105_36077500 | 36003709 | A | AAAAAAAA others(4): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0111 | 1 | 147 | 0.0068 | 11 | c.659 others(26): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGPAT2_chr9_136668143_136692457 | 136686641 | A | AAGAGGAA others(4): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0073 | 1 | 372 | 0.0027 | 11 | c.182 others(26): Show |
AGPAT2 | ENSG00000169692.14 | transcript | ENST00000371696.7 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
AGPAT4_chr6_161124967_161279061 | 161268780 | G | GTCCATAT others(4): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00735.hp2 others(83): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(44): Show | a0001c0001t0001g0132 a0001c0001t0001g0159 a0001c0001t0001g0245 others(82): Show |
86 | 262 | 0.3282 | 11 | c.-90 others(28): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 1/8 | chr6 | TogoVar | |||||||
AGPAT5_chr8_6703642_6766503 | 6746075 | C | CTTTCTTT others(4): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0226 | 1 | 117 | 0.0085 | 11 | c.587 others(28): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 5/7 | chr8 | TogoVar | |||||||
AGPAT5_chr8_6703642_6766503 | 6746075 | C | CTTTCTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(282): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0010 others(219): Show |
285 | 401 | 0.7107 | 11 | c.587 others(28): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 5/7 | chr8 | TogoVar | |||||||
AGPAT5_chr8_6703642_6766503 | 6762132 | T | TAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 77 | 0.0130 | 11 | c.*47 others(22): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 630 | chr8 | TogoVar | |||||||
AGPS_chr2_177387773_177548834 | 177406131 | C | CGACTCTC others(4): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080 | 1 | 251 | 0.0040 | 11 | c.260 others(30): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGPS_chr2_177387773_177548834 | 177436139 | A | ATTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01168.hp1 HG01361.hp1 HG02055.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0012others(2): Show | a0001c0001t0001g0093 a0001c0001t0001g0095 a0001c0001t0001g0097 others(11): Show |
14 | 34 | 0.4118 | 11 | c.442 others(26): Show |
AGPS | ENSG00000018510.18 | transcript | ENST00000264167.11 | protein_coding | 3/19 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
AGRN_chr1_1015120_1061116 | 1053279 | T | TCGTGTCC others(4): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp2 HG02451.hp1 others(17): Show |
a0001a0004a0010others(3): Show | a0001c0012a0001c0013a0001c0024others(11): Show | a0001c0012t0006a0001c0012t0017a0001c0013t0008others(13): Show | a0001c0012t0006g0058 a0001c0012t0006g0158 a0001c0012t0017g0140 others(17): Show |
20 | 208 | 0.0962 | 11 | c.565 others(28): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 33/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85572004 | G | GTGTTTTT others(4): Show |
intron_variant | MODIFIER | NA19056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0248 | 1 | 104 | 0.0096 | 11 | c.350 others(30): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 25/25 | chr9 | TogoVar | |||||||
AGTPBP1_chr9_85541539_85746954 | 85689921 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0095 | 1 | 294 | 0.0034 | 11 | c.157 others(28): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 3/25 | chr9 | TogoVar | |||||||
AGT_chr1_230697523_230719122 | 230701148 | T | TGTGTGTG others(4): Show |
downstream_gene_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 | 1 | 31 | 0.0323 | 11 | c.*19 others(22): Show |
AGT | ENSG00000135744.9 | transcript | ENST00000366667.6 | protein_coding | 1374 | chr1 | TogoVar | |||||||
AGXT2_chr5_34993102_35052949 | 35041223 | C | CGAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01106.hp1 HG01175.hp1 NA18940.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0001c0001t0004a0003c0006t0002 | a0001c0001t0001g0195 a0001c0001t0001g0220 a0001c0001t0001g0222 others(5): Show |
8 | 21 | 0.3810 | 11 | c.89- others(24): Show |
AGXT2 | ENSG00000113492.14 | transcript | ENST00000231420.11 | protein_coding | 1/13 | chr5 | TogoVar | |||||||
AGXT_chr2_240863824_240885500 | 240880574 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG01175.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0019 | a0001c0001t0002g0002 a0001c0001t0002g0021 a0001c0001t0002g0022 others(4): Show |
9 | 141 | 0.0638 | 11 | c.*17 others(22): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 75 | chr2 | TogoVar | |||||||
AGXT_chr2_240863824_240885500 | 240883694 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG03516.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0033 | 2 | 252 | 0.0079 | 11 | c.*48 others(22): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 3195 | chr2 | TogoVar | |||||||
AHCTF1_chr1_246834098_246936948 | 246834474 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG00733.hp1 HG01175.hp2 HG01243.hp2 others(8): Show |
a0001a0002 | a0001c0004a0001c0007a0002c0008 | a0001c0004t0002a0001c0004t0012a0001c0007t0001others(1): Show | a0001c0004t0002g0167 a0001c0004t0002g0253 a0001c0004t0002g0291 others(8): Show |
11 | 95 | 0.1158 | 11 | c.*63 others(22): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4623 | chr1 | TogoVar | |||||||
AHCYL1_chr1_109979765_110028742 | 110026029 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 HG02486.hp1 HG02717.hp2 |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0004a0001c0001t0005a0003c0005t0005 | a0001c0001t0004g0104 a0001c0001t0005g0046 a0003c0005t0005g0048 |
3 | 134 | 0.0224 | 11 | c.*43 others(22): Show |
AHCYL1 | ENSG00000168710.18 | transcript | ENST00000369799.10 | protein_coding | 2288 | chr1 | TogoVar | |||||||
AHCYL2_chr7_129220030_129435211 | 129280178 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00323.hp1 others(110): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0013 others(110): Show |
113 | 130 | 0.8692 | 11 | c.363 others(30): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AHDC1_chr1_27529245_27609144 | 27538400 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00639.hp2 HG02258.hp1 HG02258.hp2 others(8): Show |
a0001a0003a0010 | a0001c0001a0003c0004a0010c0021 | a0001c0001t0001a0001c0001t0002a0003c0004t0001others(1): Show | a0001c0001t0001g0086 a0001c0001t0001g0087 a0001c0001t0001g0165 others(7): Show |
11 | 118 | 0.0932 | 11 | c.*44 others(28): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 8/8 | chr1 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135383226 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02818.hp1 HG02922.hp2 others(8): Show |
a0001a0010 | a0001c0001a0001c0002a0001c0013others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(4): Show | a0001c0001t0002g0172 a0001c0001t0003g0118 a0001c0001t0003g0177 others(8): Show |
11 | 72 | 0.1528 | 11 | c.310 others(32): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135472018 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG01243.hp1 HG01258.hp2 HG01516.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0133 a0001c0001t0001g0140 a0001c0001t0001g0154 others(5): Show |
8 | 28 | 0.2857 | 11 | c.136 others(28): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | |||||||
AHI1_chr6_135278532_135502740 | 135482894 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp2 HG01891.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0005a0001c0003t0002a0001c0003t0004 | a0001c0001t0005g0195 a0001c0003t0002g0219 a0001c0003t0004g0008 others(1): Show |
4 | 44 | 0.0909 | 11 | c.135 others(28): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 318115 | A | ACCTCCCC others(4): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 HG01891.hp1 HG02886.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0003 | a0001c0001t0001a0001c0001t0012a0001c0001t0027others(2): Show | a0001c0001t0001g0152 a0001c0001t0001g0156 a0001c0001t0012g0154 others(3): Show |
6 | 265 | 0.0226 | 11 | c.-37 others(22): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3598 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 340688 | A | ATATTTTT others(4): Show |
intron_variant | MODIFIER | NA19000.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0209 | 1 | 103 | 0.0097 | 11 | c.-10 others(28): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 340689 | T | TATATATA others(4): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0219 | 1 | 265 | 0.0038 | 11 | c.-10 others(28): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 1/10 | chr5 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 344840 | T | TGTGTGTG others(4): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01099.hp2 others(48): Show |
a0001a0002a0004others(5): Show | a0001c0001a0002c0002a0004c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(27): Show | a0001c0001t0001g0017 a0001c0001t0001g0025 a0001c0001t0001g0152 others(48): Show |
51 | 266 | 0.1917 | 11 | c.62+ others(24): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 441497 | C | CTTTTTTT others(4): Show |
downstream_gene_variant | MODIFIER | HG01074.hp2 HG02055.hp1 HG02071.hp2 others(11): Show |
a0002a0004a0007others(2): Show | a0002c0002a0002c0011a0004c0003others(3): Show | a0002c0002t0001a0002c0002t0006a0002c0002t0010others(8): Show | a0002c0002t0001g0062 a0002c0002t0001g0172 a0002c0002t0001g0186 others(11): Show |
14 | 26 | 0.5385 | 11 | c.*66 others(22): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3213 | chr5 | TogoVar | |||||||
AHR_chr7_17293652_17351147 | 17298456 | C | CGGGGGGG others(4): Show |
upstream_gene_variant | MODIFIER | HG00639.hp2 HG02976.hp1 NA21309.hp1 |
a0001a0003a0006 | a0001c0001a0003c0004a0006c0010 | a0001c0001t0008a0003c0004t0012a0006c0010t0043 | a0001c0001t0008g0054 a0003c0004t0012g0116 a0006c0010t0043g0110 |
3 | 8 | 0.3750 | 11 | c.-80 others(20): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 195 | chr7 | TogoVar | |||||||
AIF1L_chr9_131091531_131128144 | 131128061 | G | GCCCTTGC others(4): Show |
downstream_gene_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0039 | 1 | 422 | 0.0024 | 11 | c.*77 others(22): Show |
AIF1L | ENSG00000126878.13 | transcript | ENST00000247291.8 | protein_coding | 4918 | chr9 | TogoVar | |||||||
AIFM1_chrX_130124362_130170841 | 130150977 | C | CAAAAAAA others(4): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00639.hp1 HG00639.hp2 others(46): Show |
a0001a0002 | a0001c0002a0001c0004a0002c0005 | a0001c0002t0001a0001c0004t0001a0002c0005t0001 | a0001c0002t0001g0002 a0001c0002t0001g0006 a0001c0002t0001g0031 others(41): Show |
49 | 173 | 0.2832 | 11 | c.250 others(28): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 2/15 | chrX | TogoVar | |||||||
AIFM2_chr10_70107271_70137825 | 70136527 | T | TGTGTGTG others(4): Show |
upstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0074 | 1 | 25 | 0.0400 | 11 | c.-38 others(22): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 3703 | chr10 | TogoVar | |||||||
AIFM2_chr10_70107271_70137825 | 70136568 | T | TGTGTGTG others(4): Show |
upstream_gene_variant | MODIFIER | NA18985.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0013 | 1 | 466 | 0.0021 | 11 | c.-38 others(22): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 3744 | chr10 | TogoVar | |||||||
AIFM3_chr22_20962255_20986358 | 20962872 | A | AGAGGGTA others(4): Show |
upstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 454 | 0.0022 | 11 | c.-45 others(22): Show |
AIFM3 | ENSG00000183773.16 | transcript | ENST00000440238.4 | protein_coding | 4382 | chr22 | TogoVar | |||||||
AIFM3_chr22_20962255_20986358 | 20962873 | G | GAGGGTAC others(4): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(211): Show |
a0001a0002a0006others(3): Show | a0001c0001a0001c0002a0001c0004others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0006 others(136): Show |
214 | 454 | 0.4714 | 11 | c.-45 others(22): Show |
AIFM3 | ENSG00000183773.16 | transcript | ENST00000440238.4 | protein_coding | 4381 | chr22 | TogoVar | |||||||
AIMP1_chr4_106311550_106354456 | 106350000 | C | CAAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0141 | 1 | 21 | 0.0476 | 11 | c.*23 others(22): Show |
AIMP1 | ENSG00000164022.18 | transcript | ENST00000672341.1 | protein_coding | 545 | chr4 | TogoVar | |||||||
AIMP2_chr7_6004272_6028834 | 6009970 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0358 | 1 | 376 | 0.0027 | 11 | c.135 others(26): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
AIMP2_chr7_6004272_6028834 | 6009974 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | HG01891.hp2 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0343 a0001c0001t0002g0344 |
2 | 48 | 0.0417 | 11 | c.135 others(26): Show |
AIMP2 | ENSG00000106305.10 | transcript | ENST00000223029.8 | protein_coding | 1/3 | chr7 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6421853 | A | AGAAAAGA others(4): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 HG01261.hp2 HG02015.hp1 others(8): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0004others(2): Show | a0001c0001t0002a0001c0002t0003a0001c0002t0012others(5): Show | a0001c0001t0002g0026 a0001c0002t0003g0001 a0001c0002t0012g0011 others(8): Show |
11 | 281 | 0.0391 | 11 | c.*36 others(22): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1884 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6423530 | T | TCAAAAAA others(4): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01255.hp1 HG02257.hp2 others(13): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0006a0001c0002t0017a0001c0004t0011others(5): Show | a0001c0001t0006g0012 a0001c0002t0017g0280 a0001c0004t0011g0017 others(10): Show |
16 | 451 | 0.0355 | 11 | c.*19 others(22): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 207 | chr17 | TogoVar | |||||||
AIPL1_chr17_6418738_6440121 | 6434356 | C | CTTTTTTT others(4): Show |
intron_variant | MODIFIER | HG02602.hp2 HG02717.hp2 NA18944.hp1 others(2): Show |
a0001a0010 | a0001c0002a0010c0014 | a0001c0002t0007a0001c0002t0013a0001c0002t0023others(2): Show | a0001c0002t0007g0276 a0001c0002t0013g0275 a0001c0002t0023g0277 others(2): Show |
5 | 154 | 0.0325 | 11 | c.97- others(24): Show |
AIPL1 | ENSG00000129221.16 | transcript | ENST00000381129.8 | protein_coding | 1/5 | chr17 | TogoVar | |||||||
AIP_chr11_67478026_67496103 | 67494797 | T | TGGGCGAG others(4): Show |
downstream_gene_variant | MODIFIER | NA19089.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0022 | 1 | 340 | 0.0029 | 11 | c.*38 others(22): Show |
AIP | ENSG00000110711.11 | transcript | ENST00000279146.8 | protein_coding | 3695 | chr11 | TogoVar | |||||||
AIRE_chr21_44280876_44303648 | 44303440 | A | AAGACTTG others(4): Show |
downstream_gene_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0182 | 1 | 379 | 0.0026 | 11 | c.*57 others(22): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 4793 | chr21 | TogoVar | |||||||
AIRE_chr21_44280876_44303648 | 44303441 | A | AAGACTTG others(4): Show |
downstream_gene_variant | MODIFIER | HG01257.hp1 HG01258.hp1 HG01884.hp2 others(17): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0004a0001c0010others(6): Show | a0001c0001t0001a0001c0004t0001a0001c0004t0002others(7): Show | a0001c0001t0001g0047 a0001c0004t0001g0112 a0001c0004t0002g0008 others(14): Show |
20 | 311 | 0.0643 | 11 | c.*57 others(22): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 4794 | chr21 | TogoVar | |||||||
AIRE_chr21_44280876_44303648 | 44303442 | A | AAGACTTG others(4): Show |
downstream_gene_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0020 | a0003c0020t0001 | a0003c0020t0001g0209 | 1 | 423 | 0.0024 | 11 | c.*57 others(22): Show |
AIRE | ENSG00000160224.17 | transcript | ENST00000291582.6 | protein_coding | 4795 | chr21 | TogoVar | |||||||
AJAP1_chr1_4649609_4797534 | 4778614 | T | TCTCTCTC others(4): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0003 | a0003c0007 | a0003c0007t0037 | a0003c0007t0037g0127 | 1 | 331 | 0.0030 | 11 | c.*60 others(28): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 5/5 | chr1 | TogoVar | |||||||
AK3_chr9_4704556_4746202 | 4731055 | C | CCTACTGA others(4): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 460 | 0.0022 | 11 | c.152 others(28): Show |
AK3 | ENSG00000147853.17 | transcript | ENST00000381809.8 | protein_coding | 1/4 | chr9 | TogoVar | |||||||
AK4_chr1_65143203_65237145 | 65152362 | A | ATATATAT others(4): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0002 | a0001c0002t0036 | a0001c0002t0036g0294 | 1 | 245 | 0.0041 | 11 | c.145 others(28): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |