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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AK8_chr9_132720578_132883284 | 132821769 | G | GTATATGT others(23): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01167.hp2 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0189a0001c0001t0001g0193a0001c0001t0001g0196others(15): Show | 18 | 266 | 0.0677 | 30 | c.889 others(47): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 9/12 | chr9 | TogoVar | ||||||
AK8_chr9_132720578_132883284 | 132821770 | T | TATATGTG others(23): Show |
intron_variant | MODIFIER | HG02818.hp1 HG03209.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103a0001c0001t0001g0108a0001c0001t0001g0109others(1): Show | 4 | 266 | 0.0150 | 30 | c.889 others(47): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 9/12 | chr9 | TogoVar | ||||||
AK8_chr9_132720578_132883284 | 132821775 | G | TTGTATGT others(23): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02132.hp1 HG02148.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044a0001c0001t0001g0067a0001c0001t0001g0173others(1): Show | 4 | 266 | 0.0150 | 30 | c.889 others(47): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 9/12 | chr9 | TogoVar | ||||||
AK8_chr9_132720578_132883284 | 132822302 | T | TATATACA others(23): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0216 | 1 | 266 | 0.0038 | 30 | c.889 others(45): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 9/12 | chr9 | TogoVar | ||||||
AK8_chr9_132720578_132883284 | 132822337 | A | ACATATAT others(23): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG02148.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177a0001c0001t0001g0178a0001c0001t0001g0179 | 3 | 266 | 0.0113 | 30 | c.889 others(45): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 9/12 | chr9 | TogoVar | ||||||
AKAP10_chr17_19899302_19982828 | 19946252 | T | TATATATA others(23): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0130 | 1 | 278 | 0.0036 | 30 | c.976 others(47): Show |
AKAP10 | ENSG00000108599.15 | transcript | ENST00000225737.11 | protein_coding | 5/14 | chr17 | TogoVar | ||||||
AKAP12_chr6_151234967_151363559 | 151256948 | C | CTATATAT others(23): Show |
intron_variant | MODIFIER | HG02818.hp2 HG02886.hp1 HG03486.hp2 others(2): Show |
a0001a0004a0006others(1): Show | a0001c0002a0004c0007a0006c0009others(1): Show | a0001c0002t0001a0001c0002t0014a0004c0007t0004others(2): Show | a0001c0002t0001g0248a0001c0002t0014g0249a0004c0007t0004g0213others(2): Show | 5 | 316 | 0.0158 | 30 | c.162 others(49): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP12_chr6_151234967_151363559 | 151304488 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0120 | 1 | 316 | 0.0032 | 30 | c.163 others(47): Show |
AKAP12 | ENSG00000131016.17 | transcript | ENST00000402676.7 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AKAP13_chr15_85375603_85754355 | 85498199 | G | GATATAGA others(23): Show |
intron_variant | MODIFIER | NA19003.hp2 NA19068.hp1 |
a0002 | a0002c0001 | a0002c0001t0002a0002c0001t0007 | a0002c0001t0002g0192a0002c0001t0007g0235 | 2 | 314 | 0.0064 | 30 | c.33+ others(47): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AKAP13_chr15_85375603_85754355 | 85498199 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02071.hp1 HG02976.hp2 |
a0002a0004 | a0002c0001a0004c0006 | a0002c0001t0002a0002c0001t0015a0004c0006t0014 | a0002c0001t0002g0241a0002c0001t0015g0058a0004c0006t0014g0077 | 3 | 314 | 0.0096 | 30 | c.33+ others(47): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AKAP17A_chrX_1586604_1607520 | 1588052 | T | TCCTCCCT others(23): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 HG02970.hp2 HG03139.hp1 others(9): Show |
a0001a0002a0008others(1): Show | a0001c0005a0002c0003a0008c0009others(1): Show | a0001c0005t0001a0001c0005t0006a0001c0005t0013others(6): Show | a0001c0005t0001g0039a0001c0005t0001g0060a0001c0005t0006g0062others(9): Show | 12 | 151 | 0.0795 | 30 | c.-37 others(41): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 3551 | chrX | TogoVar | ||||||
AKAP17A_chrX_1586604_1607520 | 1589065 | C | CTCCCCTC others(23): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02630.hp2 HG02976.hp1 |
a0001a0002a0005 | a0001c0004a0002c0002a0005c0014 | a0001c0004t0001a0002c0002t0002a0005c0014t0011 | a0001c0004t0001g0051a0002c0002t0002g0053a0005c0014t0011g0052 | 3 | 151 | 0.0199 | 30 | c.-27 others(41): Show |
AKAP17A | ENSG00000197976.12 | transcript | ENST00000313871.9 | protein_coding | 2538 | chrX | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4624809 | G | GGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG00099.hp1 HG01928.hp1 HG02040.hp1 others(13): Show |
a0001a0002a0005 | a0001c0002a0002c0003a0002c0009others(1): Show | a0001c0002t0002a0002c0003t0002a0002c0009t0001others(1): Show | a0001c0002t0002g0281a0001c0002t0002g0283a0001c0002t0002g0284others(13): Show | 16 | 418 | 0.0383 | 30 | c.240 others(49): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 5/5 | chr12 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4624824 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG01123.hp2 HG01167.hp1 HG01261.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(2): Show | a0001c0001t0001g0012a0001c0001t0001g0017a0001c0001t0001g0018others(11): Show | 21 | 418 | 0.0502 | 30 | c.240 others(49): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 5/5 | chr12 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4626804 | A | ACTTGTCA others(23): Show |
conservative_inframe_insertion | MODERATE | HG02886.hp1 HG03041.hp1 HG03225.hp2 others(1): Show |
a0008 | a0008c0010 | a0008c0010t0001 | a0008c0010t0001g0022a0008c0010t0001g0170a0008c0010t0001g0171 | 4 | 418 | 0.0096 | 30 | c.209 others(39): Show |
p.Lys others(43): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 5/6 | 2648/3334 | 2097/2562 | 699/853 | chr12 | TogoVar | ||
AKAP6_chr14_32324298_32842684 | 32404691 | G | GATAGATA others(23): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0005 | a0005c0050 | a0005c0050t0007 | a0005c0050t0007g0150 | 1 | 154 | 0.0065 | 30 | c.-34 others(49): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32404691 | G | GATAGATA others(23): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02602.hp1 HG03486.hp2 others(3): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0010a0003c0057others(3): Show | a0001c0001t0048a0001c0010t0005a0003c0057t0026others(3): Show | a0001c0001t0048g0128a0001c0010t0005g0032a0003c0057t0026g0003others(3): Show | 6 | 154 | 0.0390 | 30 | c.-34 others(49): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32404691 | G | GATATATA others(23): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02886.hp2 HG02970.hp2 others(4): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0019a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0020a0001c0019t0001others(4): Show | a0001c0001t0001g0029a0001c0001t0020g0130a0001c0019t0001g0002others(4): Show | 7 | 154 | 0.0455 | 30 | c.-34 others(49): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32466827 | T | TTATATAT others(23): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02145.hp1 HG02615.hp2 others(5): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0003a0003c0023others(3): Show | a0001c0001t0001a0003c0003t0005a0003c0003t0045others(5): Show | a0001c0001t0001g0139a0003c0003t0005g0109a0003c0003t0045g0107others(5): Show | 8 | 154 | 0.0520 | 30 | c.324 others(49): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32492355 | T | TATATAGA others(23): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0004 | a0004c0040 | a0004c0040t0051 | a0004c0040t0051g0120 | 1 | 154 | 0.0065 | 30 | c.325 others(49): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32615167 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0082 | 1 | 154 | 0.0065 | 30 | c.273 others(51): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32780157 | C | CATATATA others(23): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02622.hp1 HG02647.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0030a0001c0006t0010a0001c0006t0032 | a0001c0001t0030g0016a0001c0006t0010g0144a0001c0006t0032g0119 | 3 | 154 | 0.0195 | 30 | c.358 others(49): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKIRIN1_chr1_38986276_39011059 | 38994672 | A | ATTTTTTT others(23): Show |
intron_variant | MODIFIER | HG02132.hp1 HG03834.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0209a0001c0001t0001g0210 | 2 | 426 | 0.0047 | 30 | c.220 others(47): Show |
AKIRIN1 | ENSG00000174574.16 | transcript | ENST00000432648.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AKNAD1_chr1_108810901_108862094 | 108817497 | A | AATTTTTT others(23): Show |
intron_variant | MODIFIER | HG02293.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0176 | 1 | 398 | 0.0025 | 30 | c.225 others(47): Show |
AKNAD1 | ENSG00000162641.20 | transcript | ENST00000370001.8 | protein_coding | 14/15 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243527890 | C | CACACACA others(23): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0295 | 1 | 301 | 0.0033 | 30 | c.125 others(51): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
ALAD_chr9_113381312_113406284 | 113381760 | C | CTTTTTTT others(23): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02145.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0009a0001c0001t0003g0082a0001c0001t0003g0188 | 3 | 446 | 0.0067 | 30 | c.*65 others(41): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 4551 | chr9 | TogoVar | ||||||
ALAD_chr9_113381312_113406284 | 113403951 | A | AAAAACCC others(23): Show |
upstream_gene_variant | MODIFIER | NA18953.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0037 | 1 | 446 | 0.0022 | 30 | c.-28 others(41): Show |
ALAD | ENSG00000148218.16 | transcript | ENST00000409155.8 | protein_coding | 2668 | chr9 | TogoVar | ||||||
ALCAM_chr3_105361909_105581900 | 105368223 | A | AAGAGAGA others(23): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01975.hp1 HG02148.hp1 others(12): Show |
a0001a0007 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0013others(7): Show | a0001c0001t0001g0302a0001c0001t0001g0306a0001c0001t0004g0304others(12): Show | 15 | 378 | 0.0397 | 30 | c.73+ others(43): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALCAM_chr3_105361909_105581900 | 105368254 | A | AGAGAGAG others(23): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0367 | 1 | 378 | 0.0027 | 30 | c.73+ others(43): Show |
ALCAM | ENSG00000170017.12 | transcript | ENST00000306107.9 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
ALDH1A3_chr15_100874831_100921626 | 100907718 | G | GAGGTTGA others(23): Show |
intron_variant | MODIFIER | NA19072.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0117 | 1 | 414 | 0.0024 | 30 | c.139 others(47): Show |
ALDH1A3 | ENSG00000184254.17 | transcript | ENST00000329841.10 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
ALDH1L2_chr12_105014790_105089458 | 105071642 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0023 | 1 | 386 | 0.0026 | 30 | c.194 others(45): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 2/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105088785 | T | TTCTCTCT others(23): Show |
upstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 | 1 | 386 | 0.0026 | 30 | c.-43 others(41): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 4328 | chr12 | TogoVar | ||||||
ALDH3B2_chr11_67657155_67679623 | 67669836 | G | GTCCACGT others(23): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0102 | 1 | 390 | 0.0026 | 30 | c.-24 others(49): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
ALDH3B2_chr11_67657155_67679623 | 67672085 | A | ATATATAT others(23): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0008 | a0008c0012 | a0008c0012t0010 | a0008c0012t0010g0197 | 1 | 390 | 0.0026 | 30 | c.-24 others(49): Show |
ALDH3B2 | ENSG00000132746.16 | transcript | ENST00000673966.2 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
ALDH4A1_chr1_18866430_18907555 | 18876661 | C | CTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG00621.hp1 NA18980.hp2 |
a0001 | a0001c0002a0001c0005 | a0001c0002t0001a0001c0005t0001 | a0001c0002t0001g0219a0001c0005t0001g0209 | 2 | 406 | 0.0049 | 30 | c.118 others(47): Show |
ALDH4A1 | ENSG00000159423.17 | transcript | ENST00000375341.8 | protein_coding | 11/14 | chr1 | TogoVar | ||||||
ALDH4A1_chr1_18866430_18907555 | 18876665 | G | GTGTGTGT others(23): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 406 | 0.0025 | 30 | c.118 others(47): Show |
ALDH4A1 | ENSG00000159423.17 | transcript | ENST00000375341.8 | protein_coding | 11/14 | chr1 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24522478 | C | CGTGTGTG others(23): Show |
intron_variant | MODIFIER | HG00099.hp2 HG01192.hp2 HG01993.hp2 others(3): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0023 | a0001c0001t0001g0012a0001c0001t0001g0206a0001c0001t0001g0215others(3): Show | 6 | 368 | 0.0163 | 30 | c.101 others(47): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALG5_chr13_36944738_37004340 | 36977790 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 276 | 0.0036 | 30 | c.562 others(47): Show |
ALG5 | ENSG00000120697.10 | transcript | ENST00000239891.4 | protein_coding | 6/9 | chr13 | TogoVar | ||||||
ALG9_chr11_111777195_111876581 | 111850706 | C | CAAAAAAA others(23): Show |
intron_variant | MODIFIER | NA18969.hp1 NA19080.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0158a0001c0001t0002g0194 | 2 | 314 | 0.0064 | 30 | c.895 others(47): Show |
ALG9 | ENSG00000086848.15 | transcript | ENST00000616540.5 | protein_coding | 8/14 | chr11 | TogoVar | ||||||
ALKBH3_chr11_43875831_43925274 | 43916526 | T | TTTATCCT others(23): Show |
intron_variant | MODIFIER | NA18978.hp1 NA18979.hp2 NA18984.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0073a0001c0001t0001g0078others(3): Show | 9 | 376 | 0.0239 | 30 | c.670 others(47): Show |
ALKBH3 | ENSG00000166199.13 | transcript | ENST00000302708.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
ALK_chr2_29187774_29926586 | 29200764 | T | TATACATG others(23): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0065 | 1 | 80 | 0.0125 | 30 | c.393 others(49): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 26/28 | chr2 | TogoVar | ||||||
ALK_chr2_29187774_29926586 | 29876626 | T | TGATGGCG others(23): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00738.hp2 HG01123.hp2 others(5): Show |
a0001a0002a0003 | a0001c0006a0001c0035a0001c0058others(5): Show | a0001c0006t0001a0001c0035t0001a0001c0058t0001others(5): Show | a0001c0006t0001g0026a0001c0035t0001g0068a0001c0058t0001g0024others(5): Show | 8 | 80 | 0.1000 | 30 | c.667 others(49): Show |
ALK | ENSG00000171094.18 | transcript | ENST00000389048.8 | protein_coding | 1/28 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3690283 | T | TCCCCTCC others(23): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 274 | 0.0037 | 30 | c.512 others(47): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
ALLC_chr2_3653200_3707671 | 3690346 | C | CTCCCCTC others(23): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0210 | 1 | 274 | 0.0037 | 30 | c.512 others(47): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | chr2 | TogoVar | ||||||
ALLC_chr2_3653200_3707671 | 3690424 | T | TCCCCCTC others(23): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0233 | 1 | 274 | 0.0037 | 30 | c.512 others(47): Show |
ALLC | ENSG00000151360.10 | transcript | ENST00000252505.4 | protein_coding | 7/11 | chr2 | TogoVar | ||||||
ALOX12_chr17_6991049_7015754 | 7004473 | T | TTTAATTT others(23): Show |
intron_variant | MODIFIER | HG03688.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169a0001c0001t0001g0201 | 2 | 404 | 0.0050 | 30 | c.116 others(47): Show |
ALOX12 | ENSG00000108839.12 | transcript | ENST00000251535.11 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ALOX15B_chr17_8034059_8054134 | 8049283 | T | TAAAAAAA others(23): Show |
downstream_gene_variant | MODIFIER | NA18988.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0017 | 1 | 470 | 0.0021 | 30 | c.*71 others(39): Show |
ALOX15B | ENSG00000179593.16 | transcript | ENST00000380183.9 | protein_coding | 150 | chr17 | TogoVar | ||||||
ALOXE3_chr17_8090900_8123514 | 8107965 | G | GAAAGAAA others(23): Show |
intron_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012 | 1 | 422 | 0.0024 | 30 | c.168 others(47): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALPI_chr2_232451153_232465753 | 232465431 | T | TTTTTATT others(23): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0006 | a0006c0007 | a0006c0007t0010 | a0006c0007t0010g0010 | 1 | 446 | 0.0022 | 30 | c.*62 others(41): Show |
ALPI | ENSG00000163295.5 | transcript | ENST00000295463.4 | protein_coding | 4679 | chr2 | TogoVar | ||||||
ALPK2_chr18_58476247_58634091 | 58578733 | G | GACACACA others(23): Show |
intron_variant | MODIFIER | HG03130.hp2 NA21309.hp1 |
a0021a0022 | a0021c0033a0022c0022 | a0021c0033t0008a0022c0022t0004 | a0021c0033t0008g0160a0022c0022t0004g0150 | 2 | 320 | 0.0063 | 30 | c.196 others(45): Show |
ALPK2 | ENSG00000198796.7 | transcript | ENST00000361673.4 | protein_coding | 4/12 | chr18 | TogoVar |