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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADARB1_chr21_45069580_45231560 | 45139933 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(70): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0003c0014others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0006others(21): Show | a0001c0001t0002g0023a0001c0001t0002g0210a0001c0001t0002g0213others(68): Show | 73 | 350 | 0.2086 | -17 | c.-48 others(36): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45191872 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02257.hp2 HG02451.hp1 HG02615.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013a0001c0001t0056 | a0001c0001t0002g0331a0001c0001t0013g0332a0001c0001t0056g0334 | 3 | 350 | 0.0086 | -17 | c.156 others(36): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45191874 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG00733.hp2 HG01891.hp2 HG03195.hp2 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0328a0001c0001t0015g0329a0001c0001t0015g0330 | 3 | 350 | 0.0086 | -17 | c.156 others(36): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45191876 | ATATATTT others(10): Show |
A | intron_variant | MODIFIER | HG01123.hp1 HG04184.hp1 NA18957.hp2 others(2): Show |
a0001 | a0001c0001a0001c0006a0001c0010 | a0001c0001t0002a0001c0001t0030a0001c0006t0003others(1): Show | a0001c0001t0002g0024a0001c0001t0030g0304a0001c0006t0003g0225others(2): Show | 5 | 350 | 0.0143 | -17 | c.156 others(36): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45191878 | ATATTTTT others(10): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG02145.hp1 HG03130.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0012others(1): Show | a0001c0001t0002g0269a0001c0001t0006g0243a0001c0001t0006g0244others(4): Show | 7 | 350 | 0.0200 | -17 | c.156 others(36): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB1_chr21_45069580_45231560 | 45191880 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0108 | 1 | 350 | 0.0029 | -17 | c.156 others(36): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
ADARB2_chr10_1172313_1742525 | 1238055 | CGGTGTTT others(10): Show |
C | intron_variant | MODIFIER | HG02109.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0022 | 1 | 106 | 0.0094 | -17 | c.136 others(36): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 5/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1298720 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG02027.hp1 HG02055.hp2 HG02145.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0017a0001c0001t0050a0002c0002t0044others(2): Show | a0001c0001t0017g0030a0001c0001t0050g0077a0002c0002t0044g0049others(2): Show | 5 | 106 | 0.0472 | -17 | c.107 others(38): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 3/9 | chr10 | TogoVar | ||||||
ADARB2_chr10_1172313_1742525 | 1695984 | CATGCATG others(10): Show |
C | intron_variant | MODIFIER | HG01884.hp1 HG01884.hp2 HG02257.hp1 others(7): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0049a0001c0003t0001others(5): Show | a0001c0001t0001g0045a0001c0001t0001g0069a0001c0001t0001g0078others(7): Show | 10 | 106 | 0.0943 | -17 | c.100 others(36): Show |
ADARB2 | ENSG00000185736.16 | transcript | ENST00000381312.6 | protein_coding | 1/9 | chr10 | TogoVar | ||||||
ADAT1_chr16_75591868_75628281 | 75596712 | TAAAAAAA others(10): Show |
T | downstream_gene_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0279 | 1 | 348 | 0.0029 | -17 | c.*34 others(28): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 155 | chr16 | TogoVar | ||||||
ADAT1_chr16_75591868_75628281 | 75615480 | TAAAAAAA others(10): Show |
T | intron_variant | MODIFIER | HG01993.hp1 HG04199.hp2 NA18986.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0013 | a0002c0002t0001g0142a0002c0002t0001g0192a0002c0002t0013g0141 | 3 | 348 | 0.0086 | -17 | c.424 others(34): Show |
ADAT1 | ENSG00000065457.11 | transcript | ENST00000564657.2 | protein_coding | 5/9 | chr16 | TogoVar | ||||||
ADAT3_chr19_1900399_1918447 | 1900971 | TCCACCCG others(10): Show |
T | upstream_gene_variant | MODIFIER | HG03225.hp2 NA19030.hp2 |
a0001 | a0001c0001a0001c0016 | a0001c0001t0006a0001c0016t0008 | a0001c0001t0006g0108a0001c0016t0008g0099 | 2 | 442 | 0.0045 | -17 | c.-46 others(28): Show |
ADAT3 | ENSG00000213638.6 | transcript | ENST00000329478.4 | protein_coding | 4427 | chr19 | TogoVar | ||||||
ADCK1_chr14_77795109_77940014 | 77842450 | TCCTTCCT others(10): Show |
T | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG00741.hp2 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0006a0001c0004t0002 | a0001c0001t0006g0166a0001c0004t0002g0032a0001c0004t0002g0033others(9): Show | 12 | 286 | 0.0420 | -17 | c.220 others(36): Show |
ADCK1 | ENSG00000063761.16 | transcript | ENST00000238561.10 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
ADCY2_chr5_7391138_7835081 | 7506789 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0078 | 1 | 140 | 0.0071 | -17 | c.409 others(36): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADCY2_chr5_7391138_7835081 | 7563471 | TTGGAATC others(10): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG02027.hp2 NA18949.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0010others(1): Show | a0001c0001t0016a0001c0005t0001a0001c0010t0002others(2): Show | a0001c0001t0016g0085a0001c0005t0001g0068a0001c0010t0002g0066others(2): Show | 5 | 140 | 0.0357 | -17 | c.570 others(36): Show |
ADCY2 | ENSG00000078295.17 | transcript | ENST00000338316.9 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADCY3_chr2_24814169_24925237 | 24853004 | GGGTGTGT others(10): Show |
G | intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0231 | 1 | 272 | 0.0037 | -17 | c.826 others(36): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
ADCY3_chr2_24814169_24925237 | 24853006 | GTGTGTGT others(10): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG01071.hp2 |
a0001 | a0001c0003a0001c0024 | a0001c0003t0003a0001c0024t0003 | a0001c0003t0003g0232a0001c0024t0003g0234 | 2 | 272 | 0.0074 | -17 | c.826 others(36): Show |
ADCY3 | ENSG00000138031.15 | transcript | ENST00000679454.1 | protein_coding | 3/21 | chr2 | TogoVar | ||||||
ADCY5_chr3_123277296_123454090 | 123298861 | GTGTATAG others(10): Show |
G | intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0018 | a0001c0018t0031 | a0001c0018t0031g0220 | 1 | 260 | 0.0039 | -17 | c.290 others(36): Show |
ADCY5 | ENSG00000173175.16 | transcript | ENST00000462833.6 | protein_coding | 15/20 | chr3 | TogoVar | ||||||
ADCY7_chr16_50261551_50323135 | 50295345 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp1 HG02257.hp2 others(10): Show |
a0001 | a0001c0001a0001c0004a0001c0008 | a0001c0001t0001a0001c0004t0008a0001c0004t0013others(1): Show | a0001c0001t0001g0323a0001c0001t0001g0324a0001c0001t0001g0325others(8): Show | 13 | 338 | 0.0385 | -17 | c.948 others(32): Show |
ADCY7 | ENSG00000121281.13 | transcript | ENST00000673801.1 | protein_coding | 7/25 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ADCY8_chr8_130775301_131045909 | 130778055 | GCCCAGTT others(10): Show |
G | downstream_gene_variant | MODIFIER | NA18941.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0086 | 1 | 246 | 0.0041 | -17 | c.*23 others(28): Show |
ADCY8 | ENSG00000155897.10 | transcript | ENST00000286355.10 | protein_coding | 2245 | chr8 | TogoVar | ||||||
ADGB_chr6_146593972_146820462 | 146616010 | ACTAGTTT others(10): Show |
A | intron_variant | MODIFIER | HG02970.hp1 HG03041.hp1 HG03195.hp1 others(2): Show |
a0008a0011a0013others(1): Show | a0008c0016a0011c0032a0013c0039others(1): Show | a0008c0016t0003a0011c0032t0001a0013c0039t0001others(1): Show | a0008c0016t0003g0225a0011c0032t0001g0226a0011c0032t0001g0227others(2): Show | 5 | 276 | 0.0181 | -17 | c.74+ others(34): Show |
ADGB | ENSG00000118492.19 | transcript | ENST00000397944.8 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRA1_chr10_133082924_133136675 | 133090714 | TGGGGGGC others(10): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00733.hp2 |
a0001 | a0001c0001a0001c0012 | a0001c0001t0024a0001c0012t0002 | a0001c0001t0024g0044a0001c0012t0002g0045 | 2 | 368 | 0.0054 | -17 | c.3+1 others(30): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 2/6 | chr10 | TogoVar | ||||||
ADGRA1_chr10_133082924_133136675 | 133136658 | GCTGGTCT others(10): Show |
G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG01515.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0070a0001c0002t0001g0090 | 2 | 368 | 0.0054 | -17 | c.*71 others(28): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 4984 | chr10 | TogoVar | ||||||
ADGRA2_chr8_37791883_37849896 | 37836081 | ACACACAC others(10): Show |
A | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0361 | 1 | 370 | 0.0027 | -17 | c.205 others(34): Show |
ADGRA2 | ENSG00000020181.18 | transcript | ENST00000412232.3 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADGRA3_chr4_22382376_22521066 | 22423971 | AATAACTT others(10): Show |
A | intron_variant | MODIFIER | HG03688.hp2 | a0020 | a0020c0041 | a0020c0041t0001 | a0020c0041t0001g0281 | 1 | 290 | 0.0035 | -17 | c.160 others(34): Show |
ADGRA3 | ENSG00000152990.14 | transcript | ENST00000334304.10 | protein_coding | 11/18 | chr4 | TogoVar | ||||||
ADGRB1_chr8_142444649_142550007 | 142465020 | TGGGCAGA others(10): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00423.hp2 others(82): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0002a0001c0003others(18): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0002a0001c0001t0001g0031a0001c0001t0001g0034others(81): Show | 85 | 310 | 0.2742 | -17 | c.784 others(30): Show |
ADGRB1 | ENSG00000181790.13 | transcript | ENST00000517894.6 | protein_coding | 2/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
ADGRB2_chr1_31722117_31769340 | 31760778 | GACCCAAG others(10): Show |
G | intron_variant | MODIFIER | HG02622.hp2 HG02809.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0054a0001c0002t0002g0055 | 2 | 280 | 0.0071 | -17 | c.-19 others(36): Show |
ADGRB2 | ENSG00000121753.13 | transcript | ENST00000373658.8 | protein_coding | 1/32 | chr1 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 68772891 | AAAAATAT others(10): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0077 | 1 | 120 | 0.0083 | -17 | c.757 others(38): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRB3_chr6_68630282_69394506 | 68772895 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0062 | 1 | 120 | 0.0083 | -17 | c.757 others(38): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | chr6 | TogoVar | ||||||
ADGRB3_chr6_68630282_69394506 | 68840369 | CTTTTTTT others(10): Show |
C | intron_variant | MODIFIER | HG02293.hp2 HG02451.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002 | a0001c0001t0002g0064a0001c0001t0002g0102a0001c0001t0002g0104others(3): Show | 6 | 120 | 0.0500 | -17 | c.758 others(36): Show |
ADGRB3 | ENSG00000135298.15 | transcript | ENST00000370598.6 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRE3_chr19_14614117_14679844 | 14620568 | ATTTTTTT others(10): Show |
A | intron_variant | MODIFIER | HG02132.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0207 | 1 | 372 | 0.0027 | -17 | c.192 others(36): Show |
ADGRE3 | ENSG00000131355.15 | transcript | ENST00000253673.6 | protein_coding | 15/15 | chr19 | TogoVar | ||||||
ADGRE5_chr19_14376444_14413723 | 14399563 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01169.hp1 HG01943.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0229a0001c0001t0001g0248 | 2 | 374 | 0.0054 | -17 | c.897 others(34): Show |
ADGRE5 | ENSG00000123146.20 | transcript | ENST00000242786.6 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
ADGRF4_chr6_47693580_47727014 | 47695044 | GAATATGT others(10): Show |
G | upstream_gene_variant | MODIFIER | HG00642.hp2 HG02257.hp2 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0056a0001c0007t0001g0067 | 2 | 394 | 0.0051 | -17 | c.-37 others(28): Show |
ADGRF4 | ENSG00000153294.12 | transcript | ENST00000283303.3 | protein_coding | 3535 | chr6 | TogoVar | ||||||
ADGRF5_chr6_46847522_46926938 | 46877361 | CTTTCTTT others(10): Show |
C | intron_variant | MODIFIER | HG02129.hp2 HG02155.hp1 homoSapiens_chm13v2.hp1 |
a0001a0005 | a0001c0001a0005c0015 | a0001c0001t0001a0005c0015t0001 | a0001c0001t0001g0214a0001c0001t0001g0215a0005c0015t0001g0216 | 3 | 382 | 0.0079 | -17 | c.124 others(34): Show |
ADGRF5 | ENSG00000069122.19 | transcript | ENST00000283296.12 | protein_coding | 10/20 | chr6 | TogoVar | ||||||
ADGRG6_chr6_142297007_142451261 | 142318272 | TTATATTA others(10): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0058a0001c0001t0005g0059 | 2 | 260 | 0.0077 | -17 | c.103 others(34): Show |
ADGRG6 | ENSG00000112414.15 | transcript | ENST00000367609.8 | protein_coding | 2/24 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ADGRL2_chr1_81795934_81998932 | 81993083 | ATATATTT others(10): Show |
A | 3_prime_UTR_variant | MODIFIER | HG02602.hp1 HG04115.hp1 |
a0001 | a0001c0007a0001c0021 | a0001c0007t0059a0001c0021t0060 | a0001c0007t0059g0155a0001c0021t0060g0154 | 2 | 306 | 0.0065 | -17 | c.*19 others(28): Show |
ADGRL2 | ENSG00000117114.21 | transcript | ENST00000686636.1 | protein_coding | 24/24 | 1940 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
ADGRL2_chr1_81795934_81998932 | 81993087 | ATTTTTTT others(10): Show |
A | 3_prime_UTR_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0007 | a0001c0007t0098 | a0001c0007t0098g0283 | 1 | 306 | 0.0033 | -17 | c.*19 others(28): Show |
ADGRL2 | ENSG00000117114.21 | transcript | ENST00000686636.1 | protein_coding | 24/24 | 1958 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
ADGRL3_chr4_61195326_62083335 | 61428860 | TATCTATC others(10): Show |
T | intron_variant | MODIFIER | HG02451.hp2 HG03041.hp1 |
a0001 | a0001c0003a0001c0012 | a0001c0003t0003a0001c0012t0001 | a0001c0003t0003g0030a0001c0012t0001g0052 | 2 | 58 | 0.0345 | -17 | c.-17 others(38): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADGRL3_chr4_61195326_62083335 | 61432638 | CTTTCTTT others(10): Show |
C | intron_variant | MODIFIER | HG01884.hp2 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0036 | 1 | 58 | 0.0172 | -17 | c.-17 others(38): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
ADGRL3_chr4_61195326_62083335 | 61684755 | GCTTTTCT others(10): Show |
G | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG01169.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0049a0001c0001t0001g0051a0001c0001t0002g0013others(12): Show | 15 | 58 | 0.2586 | -17 | c.583 others(34): Show |
ADGRL3 | ENSG00000150471.17 | transcript | ENST00000683033.1 | protein_coding | 6/26 | chr4 | TogoVar | ||||||
ADGRV1_chr5_90553797_91169437 | 90569371 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01106.hp1 | a0004 | a0004c0016 | a0004c0016t0001 | a0004c0016t0001g0101 | 1 | 158 | 0.0063 | -17 | c.22+ others(34): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 1/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADGRV1_chr5_90553797_91169437 | 90569373 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG01433.hp2 NA18963.hp1 |
a0001 | a0001c0002a0001c0081 | a0001c0002t0001a0001c0081t0001 | a0001c0002t0001g0093a0001c0081t0001g0104 | 2 | 158 | 0.0127 | -17 | c.22+ others(34): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 1/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADGRV1_chr5_90553797_91169437 | 90569375 | ATATATAT others(10): Show |
A | intron_variant | MODIFIER | HG02155.hp1 HG03139.hp1 HG03669.hp1 |
a0001 | a0001c0002a0001c0091 | a0001c0002t0001a0001c0091t0001 | a0001c0002t0001g0076a0001c0002t0001g0077a0001c0091t0001g0078 | 3 | 158 | 0.0190 | -17 | c.22+ others(34): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 1/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADGRV1_chr5_90553797_91169437 | 90595901 | CTCCCTCC others(10): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG01361.hp2 HG01884.hp1 others(5): Show |
a0001a0018a0019others(3): Show | a0001c0012a0018c0047a0018c0052others(4): Show | a0001c0012t0001a0018c0047t0003a0018c0052t0003others(4): Show | a0001c0012t0001g0012a0018c0047t0003g0014a0018c0052t0003g0007others(5): Show | 8 | 158 | 0.0506 | -17 | c.23- others(34): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 1/89 | chr5 | TogoVar | ||||||
ADGRV1_chr5_90553797_91169437 | 90722716 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | HG01981.hp1 HG02486.hp2 HG03927.hp1 others(1): Show |
a0008a0030a0034 | a0008c0014a0030c0022a0034c0078 | a0008c0014t0001a0008c0014t0005a0030c0022t0001others(1): Show | a0008c0014t0001g0108a0008c0014t0005g0106a0030c0022t0001g0141others(1): Show | 4 | 158 | 0.0253 | -17 | c.974 others(36): Show |
ADGRV1 | ENSG00000164199.18 | transcript | ENST00000405460.9 | protein_coding | 45/89 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ADK_chr10_74146221_74714290 | 74302092 | TTTTTTTT others(10): Show |
T | intron_variant | MODIFIER | HG01106.hp2 HG02257.hp1 HG02293.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039a0001c0001t0001g0042a0001c0001t0001g0052others(4): Show | 7 | 200 | 0.0350 | -17 | c.195 others(36): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADK_chr10_74146221_74714290 | 74347106 | CAAAAAAA others(10): Show |
C | intron_variant | MODIFIER | NA18943.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0094 | 1 | 200 | 0.0050 | -17 | c.273 others(36): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
ADK_chr10_74146221_74714290 | 74695620 | GTGTGTGT others(10): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 200 | 0.0050 | -17 | c.965 others(36): Show |
ADK | ENSG00000156110.15 | transcript | ENST00000539909.6 | protein_coding | 10/10 | chr10 | TogoVar | ||||||
ADM2_chr22_50476543_50491437 | 50482729 | CCCCCGAA others(10): Show |
C | frameshift_variant | HIGH | NA18941.hp1 | a0000 | a0000c0008 | a0000c0008t0001 | a0000c0008t0001g0001 | 1 | 446 | 0.0022 | -17 | c.278 others(24): Show |
p.Arg others(4): Show |
ADM2 | ENSG00000128165.9 | transcript | ENST00000395737.2 | protein_coding | 3/3 | 510/4213 | 278/447 | 93/148 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |
ADNP2_chr18_80104262_80145346 | 80105220 | ATGATCCT others(10): Show |
A | upstream_gene_variant | MODIFIER | NA18985.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0074 | 1 | 388 | 0.0026 | -17 | c.-42 others(28): Show |
ADNP2 | ENSG00000101544.9 | transcript | ENST00000262198.9 | protein_coding | 4041 | chr18 | TogoVar |