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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AGMO_chr7_15195317_15567015 | 15322668 | ATAAATAT others(25): Show |
A | intron_variant | MODIFIER | HG02145.hp2 HG02976.hp2 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0002c0004t0004 | a0001c0001t0002g0088a0002c0004t0004g0009 | 2 | 236 | 0.0085 | -32 | c.126 others(53): Show |
AGMO | ENSG00000187546.14 | transcript | ENST00000342526.8 | protein_coding | 12/12 | chr7 | TogoVar | ||||||
AGO1_chr1_35878209_35935532 | 35927901 | TCTACCTT others(25): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0002 | a0001c0002t0057 | a0001c0002t0057g0004 | 1 | 278 | 0.0036 | -32 | c.*82 others(43): Show |
AGO1 | ENSG00000092847.14 | transcript | ENST00000373204.6 | protein_coding | 19/19 | 8295 | chr1 | TogoVar | |||||
AGO2_chr8_140515156_140640633 | 140607451 | AGAAAAAT others(25): Show |
A | intron_variant | MODIFIER | HG01496.hp2 NA18963.hp1 |
a0001 | a0001c0001 | a0001c0001t0038a0001c0001t0049 | a0001c0001t0038g0143a0001c0001t0049g0001 | 2 | 338 | 0.0059 | -32 | c.23- others(49): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
AGO2_chr8_140515156_140640633 | 140607458 | TTATATAT others(25): Show |
T | intron_variant | MODIFIER | HG02132.hp2 HG03098.hp1 HG04228.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0108a0001c0002t0016a0001c0008t0001others(1): Show | a0001c0001t0108g0162a0001c0002t0016g0204a0001c0008t0001g0296others(1): Show | 4 | 338 | 0.0118 | -32 | c.23- others(49): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
AGO2_chr8_140515156_140640633 | 140607485 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00438.hp2 others(75): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(34): Show | a0001c0001t0001g0062a0001c0001t0001g0218a0001c0001t0001g0226others(75): Show | 78 | 338 | 0.2308 | -32 | c.23- others(49): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
AGO2_chr8_140515156_140640633 | 140607487 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02486.hp2 HG02572.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0072a0001c0001t0136a0001c0003t0012others(5): Show | a0001c0001t0072g0305a0001c0001t0136g0193a0001c0003t0012g0186others(6): Show | 9 | 338 | 0.0266 | -32 | c.23- others(49): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
AGO2_chr8_140515156_140640633 | 140607489 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0003 | a0001c0003t0019 | a0001c0003t0019g0064 | 1 | 338 | 0.0030 | -32 | c.23- others(49): Show |
AGO2 | ENSG00000123908.12 | transcript | ENST00000220592.10 | protein_coding | 1/18 | chr8 | TogoVar | ||||||
AGPAT3_chr21_43860223_43992592 | 43990958 | TATATATA others(25): Show |
T | downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0278 | 1 | 342 | 0.0029 | -32 | c.*85 others(43): Show |
AGPAT3 | ENSG00000160216.21 | transcript | ENST00000291572.13 | protein_coding | 3367 | chr21 | TogoVar | ||||||
AGR3_chr7_16854412_16886983 | 16883285 | CCCTCCCT others(25): Show |
C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00642.hp2 others(83): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0004c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0007others(49): Show | 86 | 458 | 0.1878 | -32 | c.-14 others(43): Show |
AGR3 | ENSG00000173467.9 | transcript | ENST00000310398.7 | protein_coding | 1303 | chr7 | TogoVar | ||||||
AGRN_chr1_1015120_1061116 | 1029864 | TGTGTGTG others(25): Show |
T | intron_variant | MODIFIER | HG02809.hp2 HG02896.hp2 HG02897.hp1 others(4): Show |
a0001a0024 | a0001c0011a0001c0013a0001c0055others(1): Show | a0001c0011t0006a0001c0013t0008a0001c0013t0010others(2): Show | a0001c0011t0006g0010a0001c0013t0008g0025a0001c0013t0010g0011others(3): Show | 7 | 210 | 0.0333 | -32 | c.464 others(49): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AGRN_chr1_1015120_1061116 | 1030192 | TGTGTGCA others(25): Show |
T | intron_variant | MODIFIER | HG02809.hp2 HG02896.hp2 HG02897.hp1 others(4): Show |
a0001a0024 | a0001c0011a0001c0013a0001c0055others(1): Show | a0001c0011t0006a0001c0013t0008a0001c0013t0010others(2): Show | a0001c0011t0006g0010a0001c0013t0008g0025a0001c0013t0010g0011others(3): Show | 7 | 210 | 0.0333 | -32 | c.464 others(49): Show |
AGRN | ENSG00000188157.15 | transcript | ENST00000379370.7 | protein_coding | 2/35 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AHI1_chr6_135278532_135502740 | 135340640 | CATATATA others(25): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0179 | 1 | 220 | 0.0046 | -32 | c.316 others(53): Show |
AHI1 | ENSG00000135541.22 | transcript | ENST00000265602.11 | protein_coding | 24/28 | chr6 | TogoVar | ||||||
AIFM2_chr10_70107271_70137825 | 70133098 | AAGAGAGA others(25): Show |
A | upstream_gene_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0096 | 1 | 468 | 0.0021 | -32 | c.-41 others(41): Show |
AIFM2 | ENSG00000042286.15 | transcript | ENST00000307864.3 | protein_coding | 274 | chr10 | TogoVar | ||||||
AJAP1_chr1_4649609_4797534 | 4666507 | AGGAGGGG others(25): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(216): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(162): Show | a0001c0001t0001g0097a0001c0001t0001g0125a0001c0001t0001g0129others(213): Show | 219 | 334 | 0.6557 | -32 | c.29+ others(49): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4666698 | GCGGGAGG others(25): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(155): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(117): Show | a0001c0001t0001g0097a0001c0001t0001g0125a0001c0001t0001g0129others(153): Show | 158 | 334 | 0.4731 | -32 | c.29+ others(49): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJAP1_chr1_4649609_4797534 | 4724670 | TCCTGCAC others(25): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp2 others(70): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0125a0001c0001t0002g0285a0001c0001t0002g0306others(69): Show | 73 | 334 | 0.2186 | -32 | c.829 others(51): Show |
AJAP1 | ENSG00000196581.11 | transcript | ENST00000378191.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AJM1_chr9_136837478_136853801 | 136848881 | GCCTTCGG others(25): Show |
G | downstream_gene_variant | MODIFIER | HG00673.hp1 HG03688.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 364 | 0.0055 | -32 | c.*15 others(43): Show |
AJM1 | ENSG00000232434.3 | transcript | ENST00000436881.3 | protein_coding | 81 | chr9 | TogoVar | ||||||
AK4_chr1_65143203_65237145 | 65164768 | TTTCTTTT others(25): Show |
T | intron_variant | MODIFIER | NA19076.hp1 | a0002 | a0002c0003 | a0002c0003t0024 | a0002c0003t0024g0197 | 1 | 300 | 0.0033 | -32 | c.145 others(51): Show |
AK4 | ENSG00000162433.15 | transcript | ENST00000327299.8 | protein_coding | 1/4 | chr1 | TogoVar | ||||||
AK5_chr1_77277019_77564966 | 77444237 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01169.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0021a0001c0001t0001g0033others(9): Show | 12 | 284 | 0.0423 | -32 | c.105 others(53): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK5_chr1_77277019_77564966 | 77482992 | TAAAAAAA others(25): Show |
T | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 | 1 | 284 | 0.0035 | -32 | c.106 others(49): Show |
AK5 | ENSG00000154027.19 | transcript | ENST00000354567.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AK8_chr9_132720578_132883284 | 132822218 | CATATATG others(25): Show |
C | intron_variant | MODIFIER | HG02027.hp2 NA18945.hp2 NA18982.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098a0001c0001t0001g0100a0001c0001t0001g0101 | 3 | 266 | 0.0113 | -32 | c.889 others(47): Show |
AK8 | ENSG00000165695.10 | transcript | ENST00000298545.4 | protein_coding | 9/12 | chr9 | TogoVar | ||||||
AKAP13_chr15_85375603_85754355 | 85519825 | CTACCTTC others(25): Show |
C | intron_variant | MODIFIER | HG02155.hp1 NA19081.hp1 |
a0001 | a0001c0052a0001c0055 | a0001c0052t0001a0001c0055t0055 | a0001c0052t0001g0045a0001c0055t0055g0021 | 2 | 314 | 0.0064 | -32 | c.34- others(47): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AKAP13_chr15_85375603_85754355 | 85641445 | CAAATAAA others(25): Show |
C | intron_variant | MODIFIER | NA21309.hp2 | a0034 | a0034c0040 | a0034c0040t0080 | a0034c0040t0080g0230 | 1 | 314 | 0.0032 | -32 | c.423 others(51): Show |
AKAP13 | ENSG00000170776.22 | transcript | ENST00000394518.7 | protein_coding | 9/36 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AKAP6_chr14_32324298_32842684 | 32454745 | CTCCTTCC others(25): Show |
C | intron_variant | MODIFIER | HG03490.hp2 HG03831.hp1 |
a0001a0002 | a0001c0010a0002c0002 | a0001c0010t0005a0002c0002t0001 | a0001c0010t0005g0032a0002c0002t0001g0052 | 2 | 154 | 0.0130 | -32 | c.324 others(51): Show |
AKAP6 | ENSG00000151320.11 | transcript | ENST00000280979.9 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
AKIRIN2_chr6_87669860_87707233 | 87678393 | TCGGGAGG others(25): Show |
T | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0053 | 1 | 406 | 0.0025 | -32 | c.380 others(47): Show |
AKIRIN2 | ENSG00000135334.9 | transcript | ENST00000257787.6 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
AKR1C1_chr10_4958415_4988283 | 4961731 | GTTGTTGT others(25): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00733.hp2 others(24): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0004a0001c0001t0013a0001c0001t0016others(6): Show | a0001c0001t0004g0010a0001c0001t0004g0018a0001c0001t0004g0096others(12): Show | 27 | 426 | 0.0634 | -32 | c.-17 others(43): Show |
AKR1C1 | ENSG00000187134.14 | transcript | ENST00000380872.9 | protein_coding | 1683 | chr10 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243527906 | CACACACA others(25): Show |
C | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0275 | 1 | 301 | 0.0033 | -32 | c.125 others(53): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243527908 | CACACACA others(25): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG00621.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(12): Show | a0001c0001t0001g0154a0001c0001t0001g0178a0001c0001t0002g0036others(32): Show | 35 | 301 | 0.1163 | -32 | c.125 others(53): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243527910 | CACACACA others(25): Show |
C | intron_variant | MODIFIER | HG02015.hp2 NA18944.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0070a0001c0001t0002g0194 | 2 | 301 | 0.0066 | -32 | c.125 others(53): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 12/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243693243 | GATATATA others(25): Show |
G | intron_variant | MODIFIER | HG02735.hp1 HG02738.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047a0001c0001t0001g0107 | 2 | 301 | 0.0066 | -32 | c.172 others(49): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 3/13 | chr1 | TogoVar | ||||||
AKT3_chr1_243494724_243855243 | 243699465 | CTATATAT others(25): Show |
C | intron_variant | MODIFIER | HG00609.hp2 HG01106.hp1 HG01123.hp1 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0077a0001c0001t0001g0078a0001c0001t0002g0076others(19): Show | 22 | 301 | 0.0731 | -32 | c.47- others(47): Show |
AKT3 | ENSG00000117020.19 | transcript | ENST00000673466.1 | protein_coding | 2/13 | chr1 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105036514 | TTATATAT others(25): Show |
T | intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 386 | 0.0026 | -32 | c.214 others(51): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105036535 | TATATATA others(25): Show |
T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp1 others(64): Show |
a0001a0007a0010 | a0001c0001a0001c0002a0001c0006others(3): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0013others(8): Show | a0001c0001t0004g0026a0001c0001t0004g0027a0001c0001t0004g0028others(64): Show | 67 | 386 | 0.1736 | -32 | c.214 others(51): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 18/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105046167 | CTCTCTCT others(25): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0066 | 1 | 386 | 0.0026 | -32 | c.186 others(49): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105046169 | CTCTCTCT others(25): Show |
C | intron_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02486.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0009 | a0001c0002t0007g0053a0001c0002t0007g0054a0001c0002t0007g0055others(4): Show | 7 | 386 | 0.0181 | -32 | c.186 others(49): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105046171 | CTCTCTCT others(25): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02886.hp1 HG03130.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0004a0001c0002t0002a0001c0002t0007others(2): Show | a0001c0001t0004g0033a0001c0001t0004g0254a0001c0001t0004g0328others(5): Show | 9 | 386 | 0.0233 | -32 | c.186 others(49): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105046173 | CTCTCTCT others(25): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01243.hp1 HG02735.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0009a0001c0002t0036 | a0001c0001t0004g0228a0001c0001t0004g0229a0001c0001t0004g0261others(2): Show | 5 | 386 | 0.0130 | -32 | c.186 others(49): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | ||||||
ALDH1L2_chr12_105014790_105089458 | 105046175 | CTCTCTCT others(25): Show |
C | intron_variant | MODIFIER | HG01069.hp2 NA18942.hp1 NA18960.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0002t0002a0001c0002t0021 | a0001c0001t0004g0037a0001c0002t0002g0164a0001c0002t0002g0172others(3): Show | 6 | 386 | 0.0155 | -32 | c.186 others(49): Show |
ALDH1L2 | ENSG00000136010.14 | transcript | ENST00000258494.14 | protein_coding | 15/22 | chr12 | TogoVar | ||||||
ALDH5A1_chr6_24489969_24542207 | 24526953 | AATATATA others(25): Show |
A | intron_variant | MODIFIER | HG01361.hp2 HG02148.hp1 HG02559.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0008a0002c0002t0005 | a0001c0001t0001g0126a0001c0001t0001g0168a0001c0001t0008g0145others(1): Show | 4 | 368 | 0.0109 | -32 | c.117 others(51): Show |
ALDH5A1 | ENSG00000112294.14 | transcript | ENST00000357578.8 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
ALG13_chrX_111676170_111765649 | 111721071 | AAGAAGGA others(25): Show |
A | intron_variant | MODIFIER | HG00558.hp2 HG00642.hp1 HG00738.hp1 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0001 | a0001c0001t0001g0096a0001c0001t0001g0135a0001c0001t0001g0139others(3): Show | 6 | 191 | 0.0314 | -32 | c.132 others(47): Show |
ALG13 | ENSG00000101901.13 | transcript | ENST00000394780.8 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ALG1L2_chr3_130076831_130103390 | 130099980 | AACACACA others(25): Show |
A | downstream_gene_variant | MODIFIER | NA18522.hp2 | a0005 | a0005c0009 | a0005c0009t0005 | a0005c0009t0005g0046 | 1 | 261 | 0.0038 | -32 | c.*17 others(43): Show |
ALG1L2 | ENSG00000251287.9 | transcript | ENST00000425059.1 | protein_coding | 1591 | chr3 | TogoVar | ||||||
ALG1_chr16_5066843_5092379 | 5080591 | GCTGTGCC others(25): Show |
G | intron_variant | MODIFIER | HG02486.hp2 | a0002 | a0002c0003 | a0002c0003t0004 | a0002c0003t0004g0057 | 1 | 444 | 0.0023 | -32 | c.962 others(47): Show |
ALG1 | ENSG00000033011.14 | transcript | ENST00000262374.10 | protein_coding | 9/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63400213 | ATATATAT others(25): Show |
A | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0326 | 1 | 388 | 0.0026 | -32 | c.168 others(49): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63400237 | ATATATAC others(25): Show |
A | intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0365 | 1 | 388 | 0.0026 | -32 | c.168 others(49): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALG6_chr1_63362627_63443553 | 63400305 | ATGTATAT others(25): Show |
A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0210 | 1 | 388 | 0.0026 | -32 | c.168 others(49): Show |
ALG6 | ENSG00000088035.18 | transcript | ENST00000263440.6 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
ALOXE3_chr17_8090900_8123514 | 8107810 | CAAGAAAG others(25): Show |
C | intron_variant | MODIFIER | HG00609.hp1 NA19081.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0209a0001c0002t0001g0305 | 2 | 422 | 0.0047 | -32 | c.168 others(49): Show |
ALOXE3 | ENSG00000179148.10 | transcript | ENST00000448843.7 | protein_coding | 13/15 | chr17 | TogoVar | ||||||
ALPK3_chr15_84812356_84878479 | 84877865 | TGATAGAT others(25): Show |
T | downstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0018 | 1 | 340 | 0.0029 | -32 | c.*94 others(43): Show |
ALPK3 | ENSG00000136383.7 | transcript | ENST00000258888.6 | protein_coding | 4387 | chr15 | TogoVar | ||||||
ALPL_chr1_21504423_21583410 | 21554788 | CCTGTCTG others(25): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG01074.hp1 HG01081.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0002g0073a0001c0001t0003g0065a0001c0001t0003g0219others(12): Show | 15 | 370 | 0.0405 | -32 | c.61+ others(45): Show |
ALPL | ENSG00000162551.14 | transcript | ENST00000374840.8 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
AMER2_chr13_25156679_25177288 | 25174825 | CCTTTCTT others(25): Show |
C | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG03486.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(3): Show | 9 | 416 | 0.0216 | -32 | c.-32 others(43): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2538 | chr13 | TogoVar | ||||||
AMIGO1_chr1_109499178_109514727 | 109511251 | AAAAAAAA others(25): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG02622.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0009a0001c0001t0025 | a0001c0001t0003g0003a0001c0001t0009g0010a0001c0001t0025g0027 | 3 | 400 | 0.0075 | -32 | c.-19 others(43): Show |
AMIGO1 | ENSG00000181754.7 | transcript | ENST00000369864.5 | protein_coding | 1525 | chr1 | TogoVar |