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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADCY1_chr7_45569368_45728116 | 45725391 | G | GAAAAGGG others(6): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 HG02071.hp1 HG02074.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0042a0001c0002t0003a0001c0002t0014others(6): Show | a0001c0001t0042g0029a0001c0002t0003g0081a0001c0002t0003g0110others(12): Show | 15 | 278 | 0.0540 | 13 | c.*11 others(26): Show |
ADCY1 | ENSG00000164742.16 | transcript | ENST00000297323.12 | protein_coding | 2276 | chr7 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7418647 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02615.hp2 HG02647.hp2 HG06807.hp2 |
a0001a0002 | a0001c0001a0001c0018a0002c0003 | a0001c0001t0002a0001c0018t0001a0002c0003t0003 | a0001c0001t0002g0106a0001c0018t0001g0120a0002c0003t0003g0113 | 3 | 140 | 0.0214 | 13 | c.408 others(30): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADCY2_chr5_7391138_7835081 | 7501646 | T | TCCCCCCC others(6): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0004 | a0004c0016 | a0004c0016t0008 | a0004c0016t0008g0137 | 1 | 140 | 0.0071 | 13 | c.409 others(32): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADCY2_chr5_7391138_7835081 | 7507461 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01081.hp1 others(5): Show |
a0001a0002a0003others(1): Show | a0001c0005a0001c0007a0002c0004others(2): Show | a0001c0005t0001a0001c0007t0004a0001c0007t0006others(4): Show | a0001c0005t0001g0065a0001c0005t0001g0100a0001c0007t0004g0103others(5): Show | 8 | 140 | 0.0571 | 13 | c.409 others(32): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 2/24 | chr5 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7512218 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01257.hp1 HG01952.hp2 others(1): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0003 | a0001c0001t0006a0001c0010t0001a0002c0003t0001others(1): Show | a0001c0001t0006g0051a0001c0010t0001g0050a0002c0003t0001g0128others(1): Show | 4 | 140 | 0.0286 | 13 | c.409 others(30): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADCY2_chr5_7391138_7835081 | 7589458 | A | AGAAAGAA others(6): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02486.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012a0001c0001t0001g0131 | 2 | 140 | 0.0143 | 13 | c.571 others(32): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 3/24 | chr5 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7589506 | G | GAAAGAAA others(6): Show |
intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0100 | 1 | 140 | 0.0071 | 13 | c.571 others(32): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADCY2_chr5_7391138_7835081 | 7589511 | A | AAAGAAAA others(6): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01981.hp1 NA18949.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0021a0002c0002 | a0001c0001t0001a0001c0001t0013a0001c0021t0010others(1): Show | a0001c0001t0001g0063a0001c0001t0013g0074a0001c0021t0010g0098others(1): Show | 4 | 140 | 0.0286 | 13 | c.571 others(32): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADCY2_chr5_7391138_7835081 | 7589518 | A | AGAGAAAG others(6): Show |
intron_variant | MODIFIER | HG02486.hp2 HG02615.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0003 | a0001c0001t0001g0012a0002c0003t0003g0113 | 2 | 140 | 0.0143 | 13 | c.571 others(32): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 3/24 | chr5 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7673269 | A | AAAAAAAT others(6): Show |
intron_variant | MODIFIER | HG01257.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0075 | 1 | 140 | 0.0071 | 13 | c.721 others(32): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADCY2_chr5_7391138_7835081 | 7673269 | A | AAATATAT others(6): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01257.hp2 HG02622.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003others(1): Show | a0001c0001t0001a0001c0006t0001a0002c0003t0010others(2): Show | a0001c0001t0001g0123a0001c0006t0001g0023a0002c0003t0010g0084others(2): Show | 5 | 140 | 0.0357 | 13 | c.721 others(32): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 4/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADCY2_chr5_7391138_7835081 | 7673270 | A | AATATATA others(6): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0007 | 1 | 140 | 0.0071 | 13 | c.721 others(32): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 4/24 | chr5 | TogoVar | ||||||
ADCY2_chr5_7391138_7835081 | 7693408 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01109.hp1 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0005 | a0001c0001t0001g0121a0002c0003t0005g0001 | 2 | 140 | 0.0143 | 13 | c.870 others(30): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADCY2_chr5_7391138_7835081 | 7722960 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02280.hp1 HG02647.hp1 others(1): Show |
a0001a0002 | a0001c0010a0001c0014a0002c0003 | a0001c0010t0002a0001c0014t0003a0002c0003t0004 | a0001c0010t0002g0016a0001c0010t0002g0058a0001c0014t0003g0015others(1): Show | 4 | 140 | 0.0286 | 13 | c.170 others(32): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 12/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADCY2_chr5_7391138_7835081 | 7723920 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02717.hp1 HG02886.hp1 others(3): Show |
a0001a0002 | a0001c0007a0001c0024a0002c0004 | a0001c0007t0001a0001c0007t0004a0001c0024t0002others(1): Show | a0001c0007t0001g0038a0001c0007t0004g0076a0001c0007t0004g0103others(3): Show | 6 | 140 | 0.0429 | 13 | c.170 others(30): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 12/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADCY3_chr2_24814169_24925237 | 24911641 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0118 | 1 | 272 | 0.0037 | 13 | c.675 others(30): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 2/21 | chr2 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123396791 | C | CGAGAGAG others(6): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 260 | 0.0039 | 13 | c.113 others(34): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 1/20 | chr3 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130807983 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG04115.hp2 NA18951.hp2 NA19058.hp2 |
a0001 | a0001c0002a0001c0003a0001c0005 | a0001c0002t0001a0001c0003t0001a0001c0005t0001 | a0001c0002t0001g0158a0001c0003t0001g0065a0001c0005t0001g0130 | 3 | 246 | 0.0122 | 13 | c.291 others(32): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 14/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130810370 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0099 | 1 | 246 | 0.0041 | 13 | c.291 others(32): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 14/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130829483 | G | GATCTCTT others(6): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG01070.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0064a0001c0001t0001g0188a0001c0001t0001g0189others(18): Show | 22 | 246 | 0.0894 | 13 | c.267 others(32): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 12/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130846888 | T | TTCCCTTT others(6): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01346.hp1 HG01884.hp2 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0003a0001c0003t0001a0001c0004t0001others(4): Show | a0001c0001t0003g0216a0001c0003t0001g0014a0001c0004t0001g0103others(5): Show | 8 | 246 | 0.0325 | 13 | c.250 others(30): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 11/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130869955 | T | TCTTCTTC others(6): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02486.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0003t0008 | a0001c0001t0003g0216a0001c0003t0008g0004 | 2 | 246 | 0.0081 | 13 | c.211 others(32): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 8/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 130869967 | T | TTCCTTCT others(6): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00423.hp2 others(119): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(24): Show | a0001c0001t0001g0056a0001c0001t0001g0057a0001c0001t0001g0060others(117): Show | 122 | 246 | 0.4959 | 13 | c.211 others(32): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 8/17 | chr8 | TogoVar | ||||||
ADCY8_chr8_130775301_131045909 | 131003240 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0227 | 1 | 246 | 0.0041 | 13 | c.961 others(32): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 1/17 | chr8 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 3958673 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0101 | a0001c0001t0101g0305 | 1 | 320 | 0.0031 | 13 | c.*70 others(24): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 3979 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 3969569 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG00733.hp1 HG01261.hp1 NA18612.hp1 others(1): Show |
a0001a0002 | a0001c0008a0002c0004a0002c0005others(1): Show | a0001c0008t0119a0002c0004t0001a0002c0005t0003others(1): Show | a0001c0008t0119g0067a0002c0004t0001g0200a0002c0005t0003g0060others(1): Show | 4 | 320 | 0.0125 | 13 | c.287 others(32): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 4018970 | T | TGTGTGTG others(6): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0022 | a0001c0022t0059 | a0001c0022t0059g0051 | 1 | 320 | 0.0031 | 13 | c.169 others(34): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 4097558 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0002 | a0001c0002t0026 | a0001c0002t0026g0015 | 1 | 320 | 0.0031 | 13 | c.169 others(34): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 4108360 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02258.hp2 HG03098.hp1 NA20129.hp2 |
a0001a0004 | a0001c0009a0004c0024 | a0001c0009t0089a0004c0024t0090a0004c0024t0091 | a0001c0009t0089g0237a0004c0024t0090g0236a0004c0024t0091g0241 | 3 | 320 | 0.0094 | 13 | c.169 others(32): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
ADCY9_chr16_3957653_4121442 | 4120057 | T | TGGGGAGG others(6): Show |
upstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0006 | a0001c0006t0039 | a0001c0006t0039g0103 | 1 | 320 | 0.0031 | 13 | c.-44 others(24): Show |
ADCY9 | ENSG00000162104.10 | transcript | ENST00000294016.8 | protein_coding | 3616 | chr16 | TogoVar | ||||||
ADD1_chr4_2838844_2935062 | 2852189 | T | TCTTTCTT others(6): Show |
intron_variant | MODIFIER | HG01258.hp2 HG02965.hp1 HG03834.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0052a0001c0001t0001g0229a0002c0002t0001g0177others(1): Show | 4 | 320 | 0.0125 | 13 | c.-21 others(30): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADD1_chr4_2838844_2935062 | 2852230 | C | CCTTTCTT others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0019 | a0001c0001t0001g0264a0001c0001t0001g0299a0002c0002t0019g0188 | 3 | 320 | 0.0094 | 13 | c.-21 others(30): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADD1_chr4_2838844_2935062 | 2901924 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19089.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0033 | 1 | 320 | 0.0031 | 13 | c.116 others(32): Show |
ADD1 | ENSG00000087274.19 | transcript | ENST00000683351.1 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADD3_chr10_110002984_110140565 | 110065539 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02055.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0252a0001c0001t0002g0238 | 2 | 288 | 0.0069 | 13 | c.-29 others(32): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADD3_chr10_110002984_110140565 | 110065543 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006 | a0001c0001t0003g0118a0001c0001t0006g0111 | 2 | 288 | 0.0069 | 13 | c.-29 others(32): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADD3_chr10_110002984_110140565 | 110135942 | C | CTTTTTTT others(6): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 HG03130.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001a0001c0001t0003g0276 | 3 | 288 | 0.0104 | 13 | c.*23 others(24): Show |
ADD3 | ENSG00000148700.15 | transcript | ENST00000356080.9 | protein_coding | 378 | chr10 | TogoVar | ||||||
ADGB_chr6_146593972_146820462 | 146691444 | A | AATATATA others(6): Show |
intron_variant | MODIFIER | HG00438.hp2 HG01106.hp2 HG04184.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001 | a0001c0001t0002g0259a0001c0001t0002g0264a0002c0003t0001g0070others(1): Show | 4 | 276 | 0.0145 | 13 | c.148 others(30): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 11/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRA2_chr8_37791883_37849896 | 37806526 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02647.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0001others(2): Show | a0001c0002t0001g0301a0001c0002t0001g0363a0001c0002t0002g0236others(3): Show | 6 | 370 | 0.0162 | 13 | c.267 others(30): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADGRB3_chr6_68630282_69394506 | 69144876 | G | GTTTCTTT others(6): Show |
intron_variant | MODIFIER | HG02897.hp1 HG03209.hp1 NA18906.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0028a0001c0002t0001g0002a0001c0002t0001g0043 | 3 | 120 | 0.0250 | 13 | c.248 others(34): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 17/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRD1_chr12_130948907_131146469 | 130955123 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00639.hp1 others(77): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(36): Show | a0001c0001t0001g0156a0001c0001t0001g0163a0001c0001t0001g0191others(77): Show | 80 | 242 | 0.3306 | 13 | c.103 others(28): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ADGRD1_chr12_130948907_131146469 | 131017411 | A | ACTCAGTC others(6): Show |
intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00738.hp2 others(50): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0191a0001c0001t0001g0197a0001c0001t0002g0130others(50): Show | 53 | 242 | 0.2190 | 13 | c.147 others(32): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 13/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ADGRD1_chr12_130948907_131146469 | 131093974 | G | GAGCACCC others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00323.hp2 others(96): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(47): Show | a0001c0001t0001g0113a0001c0001t0001g0191a0001c0001t0001g0197others(96): Show | 99 | 242 | 0.4091 | 13 | c.167 others(32): Show |
ADGRD1 | ENSG00000111452.13 | transcript | ENST00000261654.10 | protein_coding | 15/24 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ADGRD2_chr9_124445451_124483580 | 124483057 | G | GGCTGGGC others(6): Show |
downstream_gene_variant | MODIFIER | NA18522.hp2 | a0049 | a0049c0066 | a0049c0066t0002 | a0049c0066t0002g0085 | 1 | 404 | 0.0025 | 13 | c.*47 others(24): Show |
ADGRD2 | ENSG00000180264.12 | transcript | ENST00000696331.1 | protein_coding | 4478 | chr9 | TogoVar | ||||||
ADGRE1_chr19_6882579_6945450 | 6920516 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0333 | 1 | 338 | 0.0030 | 13 | c.162 others(30): Show |
ADGRE1 | ENSG00000174837.15 | transcript | ENST00000312053.9 | protein_coding | 13/20 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ADGRE2_chr19_14727392_14783560 | 14736921 | A | ATATATTT others(6): Show |
intron_variant | MODIFIER | HG02132.hp2 HG03654.hp2 HG03669.hp1 others(5): Show |
a0005a0023 | a0005c0006a0005c0020a0005c0041others(1): Show | a0005c0006t0015a0005c0006t0018a0005c0020t0018others(3): Show | a0005c0006t0015g0083a0005c0006t0015g0084a0005c0006t0015g0090others(5): Show | 8 | 218 | 0.0367 | 13 | c.246 others(30): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 20/20 | chr19 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14759503 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0011 | a0011c0015 | a0011c0015t0043 | a0011c0015t0043g0112 | 1 | 218 | 0.0046 | 13 | c.108 others(32): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14759503 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0011 | a0011c0015 | a0011c0015t0048 | a0011c0015t0048g0135 | 1 | 218 | 0.0046 | 13 | c.108 others(32): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14759503 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG02572.hp2 HG02622.hp2 HG02630.hp2 others(4): Show |
a0002 | a0002c0002a0002c0013 | a0002c0002t0001a0002c0002t0003a0002c0002t0009others(1): Show | a0002c0002t0001g0156a0002c0002t0001g0157a0002c0002t0001g0158others(4): Show | 7 | 218 | 0.0321 | 13 | c.108 others(32): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14759504 | T | TATATATA others(6): Show |
intron_variant | MODIFIER | HG02897.hp1 | a0025 | a0025c0044 | a0025c0044t0009 | a0025c0044t0009g0129 | 1 | 218 | 0.0046 | 13 | c.108 others(32): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar | ||||||
ADGRE3_chr19_14614117_14679844 | 14617394 | C | CTTTCTTT others(6): Show |
downstream_gene_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 372 | 0.0027 | 13 | c.*20 others(24): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 1722 | chr19 | TogoVar |