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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGBL2_chr11_47654591_47720369 | 47691729 | A | AAAAATAT others(6): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02717.hp1 HG03098.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004a0002c0002t0001g0006a0002c0002t0001g0007others(1): Show | 4 | 356 | 0.0112 | 13 | c.848 others(28): Show |
AGBL2 | ENSG00000165923.17 | transcript | ENST00000525123.6 | protein_coding | 9/18 | chr11 | TogoVar | ||||||
AGBL4_chr1_48527854_50028954 | 48637620 | G | GAGTGCTG others(6): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02970.hp2 HG03492.hp1 others(4): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0042a0001c0001t0001g0053a0001c0001t0004g0081others(4): Show | 7 | 104 | 0.0673 | 13 | c.840 others(30): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 8/13 | chr1 | TogoVar | ||||||
AGBL4_chr1_48527854_50028954 | 49568523 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0092 | 1 | 104 | 0.0096 | 13 | c.282 others(34): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 3/13 | chr1 | TogoVar | ||||||
AGBL4_chr1_48527854_50028954 | 49971907 | G | GTTGTTTT others(6): Show |
intron_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0002 | 1 | 104 | 0.0096 | 13 | c.34+ others(30): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
AGBL4_chr1_48527854_50028954 | 49971907 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03710.hp1 NA18970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0030a0001c0001t0006g0025 | 2 | 104 | 0.0192 | 13 | c.34+ others(30): Show |
AGBL4 | ENSG00000186094.18 | transcript | ENST00000371839.6 | protein_coding | 1/13 | chr1 | TogoVar | ||||||
AGFG2_chr7_100534203_100573220 | 100551030 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0166 | 1 | 246 | 0.0041 | 13 | c.431 others(28): Show |
AGFG2 | ENSG00000106351.13 | transcript | ENST00000300176.9 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
AGFG2_chr7_100534203_100573220 | 100551067 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0223 | 1 | 246 | 0.0041 | 13 | c.431 others(28): Show |
AGFG2 | ENSG00000106351.13 | transcript | ENST00000300176.9 | protein_coding | 3/11 | chr7 | TogoVar | ||||||
AGGF1_chr5_77025404_77070234 | 77043204 | C | CGGACGGG others(6): Show |
intron_variant | MODIFIER | HG01993.hp1 HG02293.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0098a0001c0001t0004g0105 | 2 | 438 | 0.0046 | 13 | c.871 others(30): Show |
AGGF1 | ENSG00000164252.13 | transcript | ENST00000312916.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AGGF1_chr5_77025404_77070234 | 77043380 | C | CGGACGGG others(6): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00621.hp1 others(34): Show |
a0001a0006 | a0001c0001a0001c0007a0006c0006 | a0001c0001t0004a0001c0001t0021a0001c0007t0004others(1): Show | a0001c0001t0004g0004a0001c0001t0004g0015a0001c0001t0004g0016others(28): Show | 37 | 438 | 0.0845 | 13 | c.871 others(30): Show |
AGGF1 | ENSG00000164252.13 | transcript | ENST00000312916.12 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
AGL_chr1_99845361_99929020 | 99907686 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0014 | a0001c0014t0016 | a0001c0014t0016g0157 | 1 | 318 | 0.0031 | 13 | c.370 others(32): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 27/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGL_chr1_99845361_99929020 | 99907693 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02809.hp2 HG03139.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0006 | a0001c0001t0001a0003c0006t0001a0003c0006t0008 | a0001c0001t0001g0010a0001c0001t0001g0212a0001c0001t0001g0245others(2): Show | 6 | 318 | 0.0189 | 13 | c.370 others(32): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 27/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGL_chr1_99845361_99929020 | 99907693 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 318 | 0.0031 | 13 | c.370 others(32): Show |
AGL | ENSG00000162688.17 | transcript | ENST00000361915.8 | protein_coding | 27/33 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGMAT_chr1_15566699_15590051 | 15576737 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0143 | 1 | 390 | 0.0026 | 13 | c.900 others(28): Show |
AGMAT | ENSG00000116771.6 | transcript | ENST00000375826.4 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
AGMAT_chr1_15566699_15590051 | 15576740 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00408.hp2 others(52): Show |
a0001a0002a0005 | a0001c0002a0001c0007a0002c0001others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0017others(14): Show | a0001c0002t0002g0004a0001c0002t0002g0009a0001c0002t0002g0168others(30): Show | 55 | 390 | 0.1410 | 13 | c.900 others(28): Show |
AGMAT | ENSG00000116771.6 | transcript | ENST00000375826.4 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15232827 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG00544.hp2 HG02165.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0057a0001c0001t0001g0110 | 2 | 236 | 0.0085 | 13 | c.126 others(34): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15259899 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0176 | 1 | 236 | 0.0042 | 13 | c.126 others(34): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15270596 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170 | 1 | 236 | 0.0042 | 13 | c.126 others(34): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15342172 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02040.hp1 HG02080.hp2 others(6): Show |
a0001a0003 | a0001c0001a0001c0011a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0011t0001others(1): Show | a0001c0001t0001g0025a0001c0001t0001g0090a0001c0001t0001g0134others(6): Show | 9 | 236 | 0.0381 | 13 | c.126 others(34): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15361546 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02717.hp1 HG03098.hp2 others(2): Show |
a0001a0002 | a0001c0003a0001c0005a0001c0011others(1): Show | a0001c0003t0008a0001c0005t0004a0001c0011t0001others(1): Show | a0001c0003t0008g0211a0001c0005t0004g0002a0001c0011t0001g0050others(2): Show | 5 | 236 | 0.0212 | 13 | c.126 others(32): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15361546 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01884.hp2 HG02055.hp2 others(7): Show |
a0001a0002a0007others(1): Show | a0001c0007a0002c0002a0007c0024others(1): Show | a0001c0007t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0007t0001g0017a0002c0002t0001g0212a0002c0002t0001g0213others(7): Show | 10 | 236 | 0.0424 | 13 | c.126 others(32): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15361547 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158 | 1 | 236 | 0.0042 | 13 | c.126 others(32): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15493362 | C | CACACACA others(6): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02717.hp1 HG02723.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0005t0001others(2): Show | a0001c0001t0001g0035a0001c0001t0001g0044a0001c0001t0001g0064others(5): Show | 8 | 236 | 0.0339 | 13 | c.409 others(32): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15531585 | C | CTATATAT others(6): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0003 | a0003c0006 | a0003c0006t0002 | a0003c0006t0002g0033 | 1 | 236 | 0.0042 | 13 | c.409 others(32): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
AGMO_chr7_15195317_15567015 | 15553717 | T | TAAATAAA others(6): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02559.hp1 HG02922.hp2 others(1): Show |
a0003a0004a0007 | a0003c0009a0004c0008a0007c0024 | a0003c0009t0007a0004c0008t0001a0004c0008t0011others(1): Show | a0003c0009t0007g0005a0004c0008t0001g0225a0004c0008t0011g0226others(1): Show | 4 | 236 | 0.0170 | 13 | c.257 others(30): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 2/12 | chr7 | TogoVar | ||||||
AGO2_chr8_140515156_140640633 | 140612220 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0183 | 1 | 338 | 0.0030 | 13 | c.22+ others(30): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
AGO3_chr1_35926105_36077500 | 36003709 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0246 | 1 | 258 | 0.0039 | 13 | c.659 others(28): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGO3_chr1_35926105_36077500 | 36003709 | A | AAAAAAAT others(6): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0061 | a0001c0001t0061g0116 | 1 | 258 | 0.0039 | 13 | c.659 others(28): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGO3_chr1_35926105_36077500 | 36003709 | A | AAAAATAT others(6): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0071 | 1 | 258 | 0.0039 | 13 | c.659 others(28): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGO3_chr1_35926105_36077500 | 36003709 | A | AAATATAT others(6): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0004 | a0001c0004t0011 | a0001c0004t0011g0052 | 1 | 258 | 0.0039 | 13 | c.659 others(28): Show |
AGO3 | ENSG00000126070.20 | transcript | ENST00000373191.9 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGPAT4_chr6_161124967_161279061 | 161228661 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01081.hp2 HG02109.hp1 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0007a0001c0001t0011others(6): Show | a0001c0001t0002g0029a0001c0001t0007g0114a0001c0001t0007g0182others(8): Show | 11 | 264 | 0.0417 | 13 | c.178 others(30): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 2/8 | chr6 | TogoVar | ||||||
AGPAT4_chr6_161124967_161279061 | 161252644 | G | GAAACCCT others(6): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(257): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(84): Show | a0001c0001t0001g0018a0001c0001t0001g0019a0001c0001t0001g0033others(256): Show | 260 | 264 | 0.9849 | 13 | c.-89 others(32): Show |
AGPAT4 | ENSG00000026652.15 | transcript | ENST00000320285.9 | protein_coding | 1/8 | chr6 | TogoVar | ||||||
AGPAT5_chr8_6703642_6766503 | 6762129 | T | TCTCAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0128 | 1 | 404 | 0.0025 | 13 | c.*47 others(24): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 627 | chr8 | TogoVar | ||||||
AGPAT5_chr8_6703642_6766503 | 6762132 | T | TAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0232 | 1 | 404 | 0.0025 | 13 | c.*47 others(24): Show |
AGPAT5 | ENSG00000155189.12 | transcript | ENST00000285518.11 | protein_coding | 630 | chr8 | TogoVar | ||||||
AGTPBP1_chr9_85541539_85746954 | 85599110 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0229 | 1 | 302 | 0.0033 | 13 | c.233 others(32): Show |
AGTPBP1 | ENSG00000135049.16 | transcript | ENST00000357081.8 | protein_coding | 17/25 | chr9 | TogoVar | ||||||
AGXT_chr2_240863824_240885500 | 240880574 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG02071.hp1 HG02683.hp2 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0002a0001c0001t0002g0022a0001c0001t0002g0069 | 3 | 444 | 0.0068 | 13 | c.*17 others(24): Show |
AGXT | ENSG00000172482.5 | transcript | ENST00000307503.4 | protein_coding | 75 | chr2 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246834474 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG01069.hp1 HG01071.hp2 others(32): Show |
a0001a0003a0004others(3): Show | a0001c0004a0001c0012a0003c0003others(6): Show | a0001c0004t0008a0001c0012t0002a0003c0003t0001others(7): Show | a0001c0004t0008g0326a0001c0012t0002g0269a0003c0003t0001g0001others(31): Show | 35 | 376 | 0.0931 | 13 | c.*63 others(24): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4623 | chr1 | TogoVar | ||||||
AHCTF1_chr1_246834098_246936948 | 246936382 | G | GTCAGTTT others(6): Show |
upstream_gene_variant | MODIFIER | NA19064.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0188 | 1 | 376 | 0.0027 | 13 | c.-48 others(24): Show |
AHCTF1 | ENSG00000153207.16 | transcript | ENST00000648844.2 | protein_coding | 4435 | chr1 | TogoVar | ||||||
AHCYL1_chr1_109979765_110028742 | 110026029 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0013a0001c0001t0005g0047 | 2 | 350 | 0.0057 | 13 | c.*43 others(24): Show |
AHCYL1 | ENSG00000168710.18 | transcript | ENST00000369799.10 | protein_coding | 2288 | chr1 | TogoVar | ||||||
AHCYL2_chr7_129220030_129435211 | 129280178 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01981.hp1 HG02602.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0019a0001c0001t0001g0181a0001c0001t0002g0009others(15): Show | 18 | 292 | 0.0616 | 13 | c.363 others(32): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHCYL2_chr7_129220030_129435211 | 129299369 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 NA18962.hp1 |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0003 | a0001c0002t0002g0251a0001c0002t0003g0272 | 2 | 292 | 0.0069 | 13 | c.363 others(32): Show |
AHCYL2 | ENSG00000158467.17 | transcript | ENST00000325006.8 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AHDC1_chr1_27529245_27609144 | 27531094 | A | AAAAAAAA others(6): Show |
downstream_gene_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02257.hp1 others(4): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0006 | a0002c0003t0002g0005a0002c0003t0002g0063a0002c0003t0002g0098others(3): Show | 7 | 180 | 0.0389 | 13 | c.*38 others(24): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 3150 | chr1 | TogoVar | ||||||
AHDC1_chr1_27529245_27609144 | 27538400 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0013 | a0001c0013t0014 | a0001c0013t0014g0059 | 1 | 180 | 0.0056 | 13 | c.*44 others(30): Show |
AHDC1 | ENSG00000126705.15 | transcript | ENST00000673934.1 | protein_coding | 8/8 | chr1 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135374109 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | NA19030.hp1 NA19240.hp2 |
a0001a0008 | a0001c0001a0008c0019 | a0001c0001t0002a0008c0019t0003 | a0001c0001t0002g0011a0008c0019t0003g0211 | 2 | 220 | 0.0091 | 13 | c.311 others(34): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135376881 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0051 | 1 | 220 | 0.0046 | 13 | c.310 others(34): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135383226 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02145.hp2 HG02258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0017 | a0001c0001t0003g0034a0001c0001t0003g0035a0001c0001t0003g0045others(2): Show | 5 | 220 | 0.0227 | 13 | c.310 others(34): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 23/28 | chr6 | TogoVar | ||||||
AHI1_chr6_135278532_135502740 | 135472018 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02559.hp1 NA18995.hp2 NA19010.hp2 |
a0001a0009 | a0001c0001a0009c0017 | a0001c0001t0001a0009c0017t0003 | a0001c0001t0001g0125a0001c0001t0001g0134a0009c0017t0003g0030 | 3 | 220 | 0.0136 | 13 | c.136 others(30): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 5/28 | chr6 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 318212 | A | ACCTCCCC others(6): Show |
upstream_gene_variant | MODIFIER | HG02896.hp2 | a0004 | a0004c0003 | a0004c0003t0014 | a0004c0003t0014g0244 | 1 | 268 | 0.0037 | 13 | c.-36 others(24): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3501 | chr5 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 441497 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG01255.hp1 HG01358.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006 | a0002c0002t0001g0075a0002c0002t0006g0008a0002c0002t0006g0047others(1): Show | 4 | 268 | 0.0149 | 13 | c.*66 others(24): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 3213 | chr5 | TogoVar | ||||||
AHR_chr7_17293652_17351147 | 17350122 | T | TCTGAATG others(6): Show |
downstream_gene_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0001 | 1 | 370 | 0.0027 | 13 | c.*70 others(24): Show |
AHR | ENSG00000106546.14 | transcript | ENST00000242057.9 | protein_coding | 3976 | chr7 | TogoVar | ||||||
AIFM1_chrX_130124362_130170841 | 130150977 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01175.hp2 HG02145.hp1 others(7): Show |
a0001a0005a0007 | a0001c0002a0005c0008a0007c0006 | a0001c0002t0001a0005c0008t0001a0007c0006t0001 | a0001c0002t0001g0073a0001c0002t0001g0074a0001c0002t0001g0079others(7): Show | 10 | 262 | 0.0382 | 13 | c.250 others(30): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 2/15 | chrX | TogoVar |