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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
AEN_chr15_88616340_88637281 | 88624883 | C | CAAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(289): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0013others(13): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0011others(34): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(71): Show | 292 | 440 | 0.6636 | 7 | c.-64 others(24): Show |
AEN | ENSG00000181026.15 | transcript | ENST00000332810.4 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AFAP1L2_chr10_114289824_114409502 | 114352479 | T | TAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(172): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(19): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(31): Show | a0001c0001t0001g0035a0001c0001t0001g0039a0001c0001t0001g0040others(172): Show | 175 | 262 | 0.6679 | 7 | c.17- others(24): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 1/18 | chr10 | TogoVar | ||||||
AFAP1L2_chr10_114289824_114409502 | 114352479 | T | TAAAAAAC | intron_variant | MODIFIER | HG00280.hp2 HG03704.hp2 HG03834.hp2 others(3): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0003others(2): Show | a0001c0001t0001g0201a0001c0002t0002g0199a0001c0002t0003g0026others(3): Show | 6 | 262 | 0.0229 | 7 | c.17- others(24): Show |
AFAP1L2 | ENSG00000169129.16 | transcript | ENST00000304129.9 | protein_coding | 1/18 | chr10 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7918843 | C | CTGCCAGA | intron_variant | MODIFIER | HG01192.hp2 HG02148.hp1 NA18982.hp2 |
a0001a0007 | a0001c0001a0001c0016a0007c0029 | a0001c0001t0045a0001c0016t0002a0007c0029t0002 | a0001c0001t0045g0030a0001c0016t0002g0031a0007c0029t0002g0032 | 3 | 318 | 0.0094 | 7 | c.-3+ others(24): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7918844 | T | TGCCAGAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01261.hp1 others(10): Show |
a0001 | a0001c0002a0001c0004a0001c0036 | a0001c0002t0069a0001c0004t0006a0001c0004t0007others(4): Show | a0001c0002t0069g0265a0001c0004t0006g0240a0001c0004t0006g0248others(10): Show | 13 | 318 | 0.0409 | 7 | c.-3+ others(24): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7925853 | A | AAAGAAAG | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG01261.hp1 others(8): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0001c0017others(4): Show | a0001c0002t0050a0001c0004t0006a0001c0004t0062others(7): Show | a0001c0002t0050g0226a0001c0004t0006g0240a0001c0004t0006g0248others(8): Show | 11 | 318 | 0.0346 | 7 | c.-3+ others(24): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 1/17 | chr4 | TogoVar | ||||||
AFDN_chr6_167821911_167977023 | 167897642 | C | CTTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG03490.hp2 HG03492.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0002g0184a0001c0001t0002g0232others(2): Show | 6 | 326 | 0.0184 | 7 | c.131 others(24): Show |
AFDN | ENSG00000130396.22 | transcript | ENST00000683244.1 | protein_coding | 10/33 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 86951602 | C | CTTTTTCT | intron_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0016a0001c0001t0057a0001c0002t0056 | a0001c0001t0016g0098a0001c0001t0016g0099a0001c0001t0016g0100others(2): Show | 5 | 294 | 0.0170 | 7 | c.38+ others(22): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 86969879 | C | CAAAAAAA | intron_variant | MODIFIER | HG01884.hp1 HG02572.hp1 HG02886.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0008a0001c0001t0016a0001c0002t0005others(2): Show | a0001c0001t0008g0115a0001c0001t0016g0098a0001c0001t0016g0099others(6): Show | 9 | 294 | 0.0306 | 7 | c.38+ others(24): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 86978177 | C | CTTTTTTT | intron_variant | MODIFIER | HG00140.hp2 HG01071.hp1 HG01099.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0002g0248a0001c0001t0003g0067a0001c0001t0004g0203others(10): Show | 13 | 294 | 0.0442 | 7 | c.38+ others(24): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 86998098 | C | CAAAAAAA | intron_variant | MODIFIER | HG01123.hp1 HG01433.hp1 HG02056.hp1 others(6): Show |
a0001a0005 | a0001c0001a0001c0011a0005c0032 | a0001c0001t0004a0001c0001t0012a0001c0001t0065others(2): Show | a0001c0001t0004g0209a0001c0001t0004g0220a0001c0001t0004g0222others(6): Show | 9 | 294 | 0.0306 | 7 | c.39- others(24): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 2/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 87060835 | C | CAAAAAAA | intron_variant | MODIFIER | HG00741.hp1 HG01099.hp2 HG01123.hp2 others(3): Show |
a0001a0015 | a0001c0001a0001c0010a0015c0022 | a0001c0001t0006a0001c0001t0024a0001c0001t0058others(2): Show | a0001c0001t0006g0073a0001c0001t0006g0076a0001c0001t0024g0085others(3): Show | 6 | 294 | 0.0204 | 7 | c.105 others(28): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF1_chr4_86930011_87146039 | 87119033 | T | TCCAGCTG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(186): Show |
a0001a0002a0005others(8): Show | a0001c0001a0001c0002a0001c0003others(21): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(62): Show | a0001c0001t0001g0031a0001c0001t0001g0034a0001c0001t0001g0042others(186): Show | 189 | 294 | 0.6429 | 7 | c.246 others(26): Show |
AFF1 | ENSG00000172493.23 | transcript | ENST00000395146.9 | protein_coding | 12/20 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
AFF2_chrX_148495617_149005663 | 148717399 | A | AGGCTAGG | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00738.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0006a0001c0001t0011a0001c0001t0017others(46): Show | a0001c0001t0006g0144a0001c0001t0006g0163a0001c0001t0011g0128others(48): Show | 51 | 169 | 0.3018 | 7 | c.104 others(28): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AFF2_chrX_148495617_149005663 | 148773749 | A | AGAAAGAG | intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0110 | a0001c0001t0110g0118 | 1 | 169 | 0.0059 | 7 | c.104 others(28): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 3/20 | chrX | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148795828 | A | ATATATAT | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0001 | a0001c0001t0085 | a0001c0001t0085g0167 | 1 | 169 | 0.0059 | 7 | c.104 others(28): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 3/20 | chrX | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148795832 | A | AAATATAT | intron_variant | MODIFIER | HG06807.hp1 NA20300.hp2 |
a0001 | a0001c0003 | a0001c0003t0028a0001c0003t0079 | a0001c0003t0028g0005a0001c0003t0079g0161 | 2 | 169 | 0.0118 | 7 | c.104 others(28): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AFF2_chrX_148495617_149005663 | 148795832 | A | ATATATAT | intron_variant | MODIFIER | HG02896.hp2 HG06807.hp2 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0112a0001c0005t0023 | a0001c0003t0112g0130a0001c0005t0023g0125 | 2 | 169 | 0.0118 | 7 | c.104 others(28): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 3/20 | chrX | TogoVar | ||||||
AFF2_chrX_148495617_149005663 | 148803411 | G | GCTGCAGC | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0106 | a0001c0001t0106g0121 | 1 | 169 | 0.0059 | 7 | c.104 others(26): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AFF2_chrX_148495617_149005663 | 148849366 | T | TCCCCCCC | intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0087 | 1 | 169 | 0.0059 | 7 | c.126 others(26): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 7/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AFF2_chrX_148495617_149005663 | 148916196 | C | CTTTTTTT | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0112 | 1 | 169 | 0.0059 | 7 | c.139 others(28): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 9/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AFF2_chrX_148495617_149005663 | 148983953 | C | CAAAAAAA | intron_variant | MODIFIER | HG02572.hp1 HG03139.hp1 |
a0001 | a0001c0004 | a0001c0004t0075a0001c0004t0113 | a0001c0004t0075g0004a0001c0004t0113g0159 | 2 | 169 | 0.0118 | 7 | c.362 others(26): Show |
AFF2 | ENSG00000155966.14 | transcript | ENST00000370460.7 | protein_coding | 19/20 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
AFF3_chr2_99540419_100147590 | 99575414 | A | ATTTTTTT | intron_variant | MODIFIER | HG01261.hp1 HG01358.hp1 HG01884.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0007a0001c0004t0029a0001c0005t0003others(4): Show | a0001c0001t0007g0078a0001c0004t0029g0098a0001c0005t0003g0071others(4): Show | 7 | 100 | 0.0700 | 7 | c.291 others(26): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 18/24 | chr2 | TogoVar | ||||||
AFF3_chr2_99540419_100147590 | 99628723 | A | ATTTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp2 HG00639.hp1 others(31): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(23): Show | a0001c0001t0001g0022a0001c0001t0001g0080a0001c0001t0004g0050others(31): Show | 34 | 100 | 0.3400 | 7 | c.118 others(28): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 13/24 | chr2 | TogoVar | ||||||
AFF3_chr2_99540419_100147590 | 99739013 | A | ATTTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01071.hp2 others(4): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0037a0001c0001t0001g0062a0001c0001t0002g0045others(4): Show | 7 | 100 | 0.0700 | 7 | c.103 others(26): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 10/24 | chr2 | TogoVar | ||||||
AFF3_chr2_99540419_100147590 | 99860552 | T | TCAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00438.hp1 others(64): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0023a0001c0001t0001g0025a0001c0001t0001g0037others(64): Show | 67 | 100 | 0.6700 | 7 | c.874 others(26): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 7/24 | chr2 | TogoVar | ||||||
AFF3_chr2_99540419_100147590 | 99896620 | C | CTTTTTTT | intron_variant | MODIFIER | HG00639.hp1 HG01106.hp2 HG02486.hp2 others(2): Show |
a0001a0002 | a0001c0003a0001c0009a0002c0002 | a0001c0003t0002a0001c0003t0003a0001c0003t0006others(2): Show | a0001c0003t0002g0064a0001c0003t0003g0026a0001c0003t0006g0063others(2): Show | 5 | 100 | 0.0500 | 7 | c.874 others(26): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 7/24 | chr2 | TogoVar | ||||||
AFF3_chr2_99540419_100147590 | 100104728 | G | GCCGCCCC | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp2 HG00609.hp2 others(9): Show |
a0001a0004 | a0001c0001a0001c0003a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0028a0001c0003t0001others(6): Show | a0001c0001t0001g0062a0001c0001t0028g0061a0001c0003t0001g0065others(9): Show | 12 | 100 | 0.1200 | 7 | c.-64 others(22): Show |
AFF3 | ENSG00000144218.21 | transcript | ENST00000672756.2 | protein_coding | 3/24 | chr2 | TogoVar | ||||||
AFF4_chr5_132870395_132968634 | 132954546 | C | CTTTTTTT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00544.hp1 others(29): Show |
a0001a0005 | a0001c0002a0005c0011 | a0001c0002t0003a0001c0002t0014a0001c0002t0022others(1): Show | a0001c0002t0003g0191a0001c0002t0003g0192a0001c0002t0003g0328others(29): Show | 32 | 392 | 0.0816 | 7 | c.-5+ others(22): Show |
AFF4 | ENSG00000072364.13 | transcript | ENST00000265343.10 | protein_coding | 1/20 | chr5 | TogoVar | ||||||
AFMID_chr17_78182362_78212702 | 78207273 | C | CTTTTTTT | 3_prime_UTR_variant | MODIFIER | HG00323.hp2 HG00558.hp2 HG00597.hp2 others(25): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0013 | a0001c0001t0004a0001c0001t0046a0002c0002t0004others(1): Show | a0001c0001t0004g0011a0001c0001t0004g0029a0001c0001t0004g0070others(25): Show | 28 | 446 | 0.0628 | 7 | c.*35 others(16): Show |
AFMID | ENSG00000183077.16 | transcript | ENST00000409257.10 | protein_coding | 11/11 | 365 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
AFTPH_chr2_64519328_64598005 | 64545570 | T | TAAAAAAA | intron_variant | MODIFIER | HG00140.hp1 HG01175.hp1 HG01175.hp2 others(6): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0020a0001c0005t0001 | a0001c0001t0001g0134a0001c0001t0001g0138a0001c0001t0001g0144others(6): Show | 9 | 372 | 0.0242 | 7 | c.-32 others(24): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AFTPH_chr2_64519328_64598005 | 64576902 | G | GCACCTGC | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00408.hp2 others(88): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0002c0010others(3): Show | a0001c0001t0002a0002c0002t0001a0002c0002t0002others(9): Show | a0001c0001t0002g0186a0002c0002t0001g0004a0002c0002t0001g0312others(86): Show | 91 | 372 | 0.2446 | 7 | c.239 others(26): Show |
AFTPH | ENSG00000119844.17 | transcript | ENST00000409933.6 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235543122 | C | CGTTGGGT | intron_variant | MODIFIER | HG02109.hp1 HG02615.hp1 HG02622.hp1 others(2): Show |
a0001a0002 | a0001c0002a0001c0003a0001c0005others(1): Show | a0001c0002t0014a0001c0003t0009a0001c0003t0021others(2): Show | a0001c0002t0014g0076a0001c0003t0009g0096a0001c0003t0021g0023others(2): Show | 5 | 98 | 0.0510 | 7 | c.163 others(26): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235590716 | T | TGTGCGCA | intron_variant | MODIFIER | HG02809.hp1 HG03139.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0011a0001c0005t0031 | a0001c0001t0011g0098a0001c0005t0031g0031 | 2 | 98 | 0.0204 | 7 | c.163 others(26): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | chr2 | TogoVar | ||||||
AGAP1_chr2_235489043_236136793 | 235669621 | A | ACCGCCGC | intron_variant | MODIFIER | HG02109.hp2 HG02647.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0001t0044a0001c0002t0004others(2): Show | a0001c0001t0011g0020a0001c0001t0044g0041a0001c0002t0004g0072others(2): Show | 5 | 98 | 0.0510 | 7 | c.164 others(26): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235669630 | C | CGCCGCCG | intron_variant | MODIFIER | HG01884.hp2 HG02080.hp1 HG02145.hp2 others(17): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0007others(15): Show | a0001c0001t0002g0047a0001c0001t0003g0034a0001c0001t0007g0008others(17): Show | 20 | 98 | 0.2041 | 7 | c.164 others(26): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235669634 | G | GCCCGCCA | intron_variant | MODIFIER | HG01123.hp2 HG01168.hp1 HG01168.hp2 others(6): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0004others(1): Show | a0001c0002t0001a0001c0002t0006a0001c0002t0034others(6): Show | a0001c0002t0001g0030a0001c0002t0006g0093a0001c0002t0034g0084others(6): Show | 9 | 98 | 0.0918 | 7 | c.164 others(26): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235802818 | T | TGGAGATG | intron_variant | MODIFIER | HG00741.hp1 HG01106.hp1 HG01123.hp2 others(4): Show |
a0001a0002 | a0001c0006a0002c0020 | a0001c0006t0001a0001c0006t0006a0001c0006t0033others(4): Show | a0001c0006t0001g0016a0001c0006t0006g0019a0001c0006t0033g0087others(4): Show | 7 | 98 | 0.0714 | 7 | c.957 others(24): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 8/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP1_chr2_235489043_236136793 | 235943362 | A | ATTTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01884.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0002g0046a0001c0001t0002g0060a0001c0001t0003g0090others(17): Show | 20 | 98 | 0.2041 | 7 | c.148 others(28): Show |
AGAP1 | ENSG00000157985.20 | transcript | ENST00000304032.13 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
AGAP3_chr7_151081475_151149434 | 151105776 | G | GCCCCCCC | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG01071.hp2 others(20): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0006a0001c0006t0001 | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0001g0036others(19): Show | 23 | 354 | 0.0650 | 7 | c.332 others(26): Show |
AGAP3 | ENSG00000133612.20 | transcript | ENST00000397238.7 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
AGAP9_chr10_47496854_47528638 | 47502198 | G | GTACCAGA | frameshift_variant | HIGH | HG00735.hp2 HG01361.hp2 HG01884.hp1 others(11): Show |
a0000a0002 | a0000c0013a0000c0014a0000c0026others(2): Show | a0000c0013t0007a0000c0014t0001a0000c0026t0002others(2): Show | a0000c0013t0007g0142a0000c0014t0001g0143a0000c0026t0002g0167others(9): Show | 14 | 206 | 0.0680 | 7 | c.193 others(16): Show |
p.Thr others(5): Show |
AGAP9 | ENSG00000204172.12 | transcript | ENST00000452145.6 | protein_coding | 8/8 | 2042/2387 | 1930/1977 | 644/658 | chr10 | TogoVar | ||
AGA_chr4_177425774_177447437 | 177445063 | C | CGGATGTT | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(123): Show |
a0001a0006a0007 | a0001c0001a0001c0005a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0022a0001c0001t0001g0023others(38): Show | 126 | 442 | 0.2851 | 7 | c.-26 others(18): Show |
AGA | ENSG00000038002.9 | transcript | ENST00000264595.7 | protein_coding | 2627 | chr4 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86236946 | G | GGGGGGGC | intron_variant | MODIFIER | HG00738.hp1 HG01255.hp2 HG02738.hp1 others(8): Show |
a0001a0004a0009others(3): Show | a0001c0003a0001c0006a0001c0012others(8): Show | a0001c0003t0063a0001c0006t0002a0001c0012t0014others(8): Show | a0001c0003t0063g0023a0001c0006t0002g0051a0001c0012t0014g0056others(8): Show | 11 | 132 | 0.0833 | 7 | c.527 others(26): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 6/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AGBL1_chr15_86074871_86921156 | 86298335 | A | ATATATTC | intron_variant | MODIFIER | HG02257.hp2 HG02965.hp1 NA18906.hp2 |
a0001a0003 | a0001c0042a0001c0059a0003c0041 | a0001c0042t0005a0001c0059t0001a0003c0041t0017 | a0001c0042t0005g0092a0001c0059t0001g0011a0003c0041t0017g0117 | 3 | 132 | 0.0227 | 7 | c.237 others(26): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 17/22 | chr15 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86373963 | C | CTAGACTA | intron_variant | MODIFIER | HG02965.hp2 NA20129.hp1 |
a0001a0003 | a0001c0056a0003c0011 | a0001c0056t0031a0003c0011t0022 | a0001c0056t0031g0055a0003c0011t0022g0052 | 2 | 132 | 0.0152 | 7 | c.237 others(28): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AGBL1_chr15_86074871_86921156 | 86386192 | T | TCATCCTC | intron_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00621.hp1 others(49): Show |
a0001a0003a0004others(10): Show | a0001c0001a0001c0002a0001c0003others(23): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(45): Show | a0001c0001t0001g0111a0001c0001t0005g0106a0001c0001t0006g0093others(49): Show | 52 | 132 | 0.3939 | 7 | c.237 others(28): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 17/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AGBL1_chr15_86074871_86921156 | 86433266 | C | CTTTTTTT | intron_variant | MODIFIER | HG00621.hp1 HG00738.hp2 HG01074.hp1 others(11): Show |
a0001a0004a0007others(2): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0005a0001c0001t0011a0001c0002t0022others(10): Show | a0001c0001t0005g0106a0001c0001t0011g0094a0001c0002t0022g0041others(11): Show | 14 | 132 | 0.1061 | 7 | c.255 others(28): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 18/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AGBL1_chr15_86074871_86921156 | 86510351 | G | GTAAGTTT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00544.hp1 others(50): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0009a0001c0002t0002a0001c0002t0022others(48): Show | a0001c0001t0009g0099a0001c0002t0002g0127a0001c0002t0022g0041others(50): Show | 53 | 132 | 0.4015 | 7 | c.255 others(28): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 18/22 | chr15 | TogoVar | ||||||
AGBL1_chr15_86074871_86921156 | 86539089 | C | CATACCAT | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00544.hp2 others(72): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0002a0001c0003others(40): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(68): Show | a0001c0001t0001g0109a0001c0001t0003g0097a0001c0001t0003g0113others(72): Show | 75 | 132 | 0.5682 | 7 | c.268 others(26): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
AGBL1_chr15_86074871_86921156 | 86625364 | C | CCTTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG02486.hp2 HG02717.hp1 others(6): Show |
a0001a0002a0007others(1): Show | a0001c0001a0001c0003a0001c0008others(6): Show | a0001c0001t0005a0001c0003t0057a0001c0008t0002others(6): Show | a0001c0001t0005g0106a0001c0003t0057g0038a0001c0008t0002g0034others(6): Show | 9 | 132 | 0.0682 | 7 | c.299 others(28): Show |
AGBL1 | ENSG00000273540.5 | transcript | ENST00000614907.3 | protein_coding | 21/22 | chr15 | TogoVar |