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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0002c0002t0001g0004 a0002c0002t0001g0006 a0002c0002t0001g0008 others(1): Show |
4 | 11 | 0.3636 | 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 |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0042 a0001c0001t0001g0053 a0001c0001t0004g0081 others(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 | 100 | 0.0100 | 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 | 4 | 0.2500 | 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 | a0001c0001t0001g0030 a0001c0001t0006g0025 |
2 | 5 | 0.4000 | 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 | a0001c0005t0005g0007 | 1 | 49 | 0.0204 | 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 | a0003c0003t0004g0196 | 1 | 232 | 0.0043 | 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 | a0001c0001t0004g0097 a0001c0001t0004g0101 |
2 | 435 | 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(33): Show |
a0001a0005 | a0001c0001a0001c0007a0005c0006 | a0001c0001t0004a0001c0001t0021a0001c0007t0004others(1): Show | a0001c0001t0004g0004 a0001c0001t0004g0021 a0001c0001t0004g0022 others(27): Show |
36 | 436 | 0.0826 | 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 | a0001c0014t0016g0165 | 1 | 315 | 0.0032 | 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 | a0001c0001t0001g0012 a0001c0001t0001g0210 a0001c0001t0001g0243 others(2): Show |
6 | 136 | 0.0441 | 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 | a0001c0001t0002g0117 | 1 | 131 | 0.0076 | 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 | a0001c0002t0009g0142 | 1 | 388 | 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 |
a0001a0002a0006 | a0001c0002a0001c0007a0002c0001others(1): Show | a0001c0002t0002a0001c0002t0004a0001c0002t0017others(14): Show | a0001c0002t0002g0004 a0001c0002t0002g0009 a0001c0002t0002g0167 others(30): Show |
55 | 66 | 0.8333 | 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 | a0001c0001t0001g0055 a0001c0001t0001g0139 |
2 | 233 | 0.0086 | 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 | 71 | 0.0141 | 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 | a0001c0001t0003g0168 | 1 | 12 | 0.0833 | 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 | a0001c0001t0001g0025 a0001c0001t0001g0143 a0001c0001t0001g0157 others(6): Show |
9 | 62 | 0.1452 | 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 | a0001c0003t0008g0211 a0001c0005t0004g0002 a0001c0011t0001g0050 others(2): Show |
5 | 74 | 0.0676 | 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 | a0001c0007t0001g0017 a0002c0002t0001g0212 a0002c0002t0001g0213 others(7): Show |
10 | 79 | 0.1266 | 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 | a0001c0001t0002g0146 | 1 | 234 | 0.0043 | 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 | a0001c0001t0001g0035 a0001c0001t0001g0044 a0001c0001t0001g0062 others(5): Show |
8 | 111 | 0.0721 | 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 | 233 | 0.0043 | 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 | a0003c0009t0007g0005 a0004c0008t0001g0225 a0004c0008t0011g0226 others(1): Show |
4 | 234 | 0.0171 | 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 | 18 | 0.0556 | 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 | a0001c0001t0005g0247 | 1 | 147 | 0.0068 | 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 | a0001c0001t0061g0119 | 1 | 147 | 0.0068 | 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 | 147 | 0.0068 | 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 | 147 | 0.0068 | 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 | a0001c0001t0002g0029 a0001c0001t0007g0114 a0001c0001t0007g0182 others(8): Show |
11 | 143 | 0.0769 | 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(256): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(84): Show | a0001c0001t0001g0018 a0001c0001t0001g0019 a0001c0001t0001g0033 others(255): Show |
259 | 262 | 0.9886 | 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 | a0001c0001t0005g0132 | 1 | 402 | 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 | a0001c0001t0007g0236 | 1 | 77 | 0.0130 | 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 | 61 | 0.0164 | 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 | a0001c0001t0002g0002 a0001c0001t0002g0022 a0001c0001t0002g0069 |
3 | 135 | 0.0222 | 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 | a0001c0004t0008g0326 a0001c0012t0002g0269 a0003c0003t0001g0001 others(31): Show |
35 | 119 | 0.2941 | 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 | a0001c0001t0001g0187 | 1 | 374 | 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 | a0001c0001t0004g0013 a0001c0001t0005g0047 |
2 | 133 | 0.0150 | 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 | a0001c0001t0001g0019 a0001c0001t0001g0181 a0001c0001t0002g0009 others(15): Show |
18 | 35 | 0.5143 | 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 | a0001c0002t0002g0251 a0001c0002t0003g0272 |
2 | 12 | 0.1667 | 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 | a0002c0003t0001 | a0002c0003t0001g0005 a0002c0003t0001g0063 a0002c0003t0001g0098 others(3): Show |
7 | 166 | 0.0422 | 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 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0059 | 1 | 108 | 0.0093 | 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 |
a0001a0012 | a0001c0001a0012c0019 | a0001c0001t0002a0012c0019t0003 | a0001c0001t0002g0011 a0012c0019t0003g0211 |
2 | 217 | 0.0092 | 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 | 36 | 0.0278 | 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 | a0001c0001t0003g0034 a0001c0001t0003g0035 a0001c0001t0003g0045 others(2): Show |
5 | 66 | 0.0758 | 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 |
a0001a0010 | a0001c0001a0010c0017 | a0001c0001t0001a0010c0017t0003 | a0001c0001t0001g0125 a0001c0001t0001g0134 a0010c0017t0003g0030 |
3 | 23 | 0.1304 | 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 | a0004c0003t0013 | a0004c0003t0013g0248 | 1 | 246 | 0.0041 | 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 | a0002c0002t0001g0075 a0002c0002t0006g0007 a0002c0002t0006g0047 others(1): Show |
4 | 16 | 0.2500 | 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 | 368 | 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 |
a0001a0004 | a0001c0002a0004c0006 | a0001c0002t0001a0004c0006t0001 | a0001c0002t0001g0008 a0001c0002t0001g0071 a0001c0002t0001g0085 others(6): Show |
10 | 134 | 0.0746 | 13 | c.250 others(30): Show |
AIFM1 | ENSG00000156709.15 | transcript | ENST00000287295.8 | protein_coding | 2/15 | chrX | TogoVar |