| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| B3GLCT_chr13_31194975_31337276 | 31333167 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG01891.hp1 others(39): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0007a0002c0002t0002others(5): Show | a0001c0001t0001g0118a0001c0001t0001g0194a0001c0001t0007g0021others(39): Show | 42 | 268 | 0.1567 | -6 | c.*35 others(17): Show |
B3GLCT | ENSG00000187676.8 | transcript | ENST00000343307.5 | protein_coding | 892 | chr13 | TogoVar | ||||||
| B3GNT4_chr12_122198709_122213952 | 122211077 | TAAAAAA | T | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG02897.hp2 others(4): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0003a0002c0002t0014a0004c0004t0006 | a0001c0001t0003g0009a0002c0002t0014g0014a0004c0004t0006g0016 | 7 | 412 | 0.0170 | -6 | c.*36 others(17): Show |
B3GNT4 | ENSG00000176383.9 | transcript | ENST00000324189.5 | protein_coding | 2126 | chr12 | TogoVar | ||||||
| B3GNT5_chr3_183248253_183278385 | 183262099 | ATAATAC | A | intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013a0001c0001t0001g0056a0001c0001t0001g0057others(1): Show | 7 | 390 | 0.0180 | -6 | c.-30 others(25): Show |
B3GNT5 | ENSG00000176597.12 | transcript | ENST00000326505.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| B3GNT6_chr11_77029398_77046973 | 77032640 | CATATAT | C | upstream_gene_variant | MODIFIER | HG01106.hp2 HG01515.hp1 HG01516.hp2 others(19): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0023others(10): Show | 22 | 442 | 0.0498 | -6 | c.-18 others(17): Show |
B3GNT6 | ENSG00000198488.10 | transcript | ENST00000622824.1 | protein_coding | 1757 | chr11 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 82958860 | GGTGTGT | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(128): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(38): Show | a0001c0001t0001g0179a0001c0001t0002g0058a0001c0001t0002g0064others(124): Show | 131 | 266 | 0.4925 | -6 | c.681 others(23): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 8/12 | chr17 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 82967764 | AAATAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(140): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(42): Show | a0001c0001t0001g0061a0001c0001t0001g0165a0001c0001t0001g0166others(138): Show | 143 | 266 | 0.5376 | -6 | c.460 others(23): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 6/12 | chr17 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 83042397 | ATAAATC | A | intron_variant | MODIFIER | HG00099.hp2 HG00558.hp2 HG00621.hp1 others(42): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0009others(21): Show | a0001c0001t0004g0237a0001c0001t0004g0238a0001c0001t0004g0242others(41): Show | 45 | 266 | 0.1692 | -6 | c.232 others(23): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 3/12 | chr17 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 83055177 | GGAGACA | G | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00673.hp2 others(42): Show |
a0001a0002a0003others(2): Show | a0001c0002a0001c0003a0001c0008others(7): Show | a0001c0002t0001a0001c0003t0004a0001c0003t0005others(17): Show | a0001c0002t0001g0089a0001c0002t0001g0114a0001c0002t0001g0129others(40): Show | 45 | 266 | 0.1692 | -6 | c.-34 others(17): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 3408 | chr17 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 83055823 | GGAGACA | G | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00673.hp2 others(36): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0008others(5): Show | a0001c0002t0001a0001c0003t0004a0001c0003t0005others(13): Show | a0001c0002t0001g0089a0001c0002t0001g0114a0001c0002t0001g0129others(35): Show | 39 | 266 | 0.1466 | -6 | c.-40 others(17): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4054 | chr17 | TogoVar | ||||||
| B3GNTL1_chr17_82937149_83056770 | 83055880 | GGAGACA | G | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00558.hp1 HG00673.hp2 others(37): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0001c0008others(5): Show | a0001c0002t0001a0001c0003t0004a0001c0003t0005others(14): Show | a0001c0002t0001g0089a0001c0002t0001g0114a0001c0002t0001g0129others(36): Show | 40 | 266 | 0.1504 | -6 | c.-41 others(17): Show |
B3GNTL1 | ENSG00000175711.9 | transcript | ENST00000320865.4 | protein_coding | 4111 | chr17 | TogoVar | ||||||
| B4GALNT2_chr17_49127769_49181840 | 49142700 | GCAAAAA | G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00408.hp1 others(109): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0004a0001c0005others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0022others(18): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0008others(98): Show | 112 | 380 | 0.2947 | -6 | c.353 others(21): Show |
B4GALNT2 | ENSG00000167080.9 | transcript | ENST00000393354.7 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| B4GALNT3_chr12_454939_568509 | 456435 | CAGATAT | C | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00639.hp2 HG01074.hp1 others(56): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0013others(17): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(50): Show | a0001c0001t0001g0248a0001c0001t0001g0269a0001c0001t0001g0373others(56): Show | 59 | 394 | 0.1498 | -6 | c.-39 others(17): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 3503 | chr12 | TogoVar | ||||||
| B4GALNT3_chr12_454939_568509 | 472976 | CTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp2 others(225): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0010others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(134): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0021others(225): Show | 228 | 394 | 0.5787 | -6 | c.169 others(25): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| B4GALNT3_chr12_454939_568509 | 480450 | TCTGACC | T | intron_variant | MODIFIER | HG01081.hp2 HG01106.hp2 HG01109.hp1 others(22): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0013others(10): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0016others(19): Show | a0001c0001t0002g0209a0001c0001t0002g0294a0001c0001t0004g0298others(22): Show | 25 | 394 | 0.0635 | -6 | c.169 others(25): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| B4GALNT3_chr12_454939_568509 | 491983 | AGGAGGC | A | intron_variant | MODIFIER | HG01358.hp1 HG02451.hp2 HG02683.hp2 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0044a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(11): Show | a0001c0001t0001g0116a0001c0001t0001g0223a0001c0001t0004g0214others(12): Show | 15 | 394 | 0.0381 | -6 | c.169 others(25): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| B4GALNT3_chr12_454939_568509 | 511778 | TCTTCCA | T | intron_variant | MODIFIER | HG01167.hp2 HG02809.hp2 HG02818.hp2 others(1): Show |
a0001a0005 | a0001c0001a0001c0042a0005c0025 | a0001c0001t0004a0001c0001t0013a0001c0042t0002others(1): Show | a0001c0001t0004g0298a0001c0001t0013g0391a0001c0042t0002g0203others(1): Show | 4 | 394 | 0.0102 | -6 | c.170 others(25): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| B4GALNT3_chr12_454939_568509 | 511878 | CCACCTT | C | intron_variant | MODIFIER | HG01106.hp2 HG01243.hp2 HG01346.hp2 others(22): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0002c0003others(7): Show | a0001c0001t0002a0001c0001t0012a0001c0001t0028others(20): Show | a0001c0001t0002g0024a0001c0001t0002g0126a0001c0001t0012g0260others(22): Show | 25 | 394 | 0.0635 | -6 | c.170 others(25): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| B4GALNT3_chr12_454939_568509 | 552292 | TACACAC | T | intron_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01074.hp1 others(16): Show |
a0001a0003a0006 | a0001c0001a0001c0010a0001c0044others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(8): Show | a0001c0001t0001g0021a0001c0001t0001g0112a0001c0001t0001g0375others(16): Show | 19 | 394 | 0.0482 | -6 | c.120 others(23): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 12/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| B4GALNT3_chr12_454939_568509 | 554789 | CAAAAAA | C | intron_variant | MODIFIER | HG00280.hp2 HG01081.hp2 HG02451.hp2 others(3): Show |
a0001a0003a0005others(1): Show | a0001c0001a0003c0004a0003c0049others(2): Show | a0001c0001t0031a0003c0004t0004a0003c0049t0002others(3): Show | a0001c0001t0031g0314a0003c0004t0004g0390a0003c0049t0002g0091others(3): Show | 6 | 394 | 0.0152 | -6 | c.206 others(23): Show |
B4GALNT3 | ENSG00000139044.12 | transcript | ENST00000266383.10 | protein_coding | 14/19 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| B4GALT1_chr9_33105642_33172336 | 33150126 | TATATAG | T | intron_variant | MODIFIER | HG00280.hp1 HG00738.hp2 HG01070.hp2 others(26): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0019others(7): Show | a0001c0001t0001g0053a0001c0001t0001g0169a0001c0001t0004g0009others(24): Show | 29 | 366 | 0.0792 | -6 | c.413 others(25): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
| B4GALT1_chr9_33105642_33172336 | 33150233 | TACACAC | T | intron_variant | MODIFIER | HG01192.hp2 HG02109.hp2 HG02258.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0021 | a0001c0001t0001g0169a0001c0001t0004g0009a0001c0001t0021g0165others(1): Show | 5 | 366 | 0.0137 | -6 | c.413 others(25): Show |
B4GALT1 | ENSG00000086062.13 | transcript | ENST00000379731.5 | protein_coding | 1/5 | chr9 | TogoVar | ||||||
| B4GALT4_chr3_119206742_119245878 | 119208799 | TCTCACA | T | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02572.hp2 HG02717.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0015a0001c0001t0001g0099a0001c0001t0001g0100others(3): Show | 7 | 436 | 0.0161 | -6 | c.*37 others(17): Show |
B4GALT4 | ENSG00000121578.13 | transcript | ENST00000393765.7 | protein_coding | 2942 | chr3 | TogoVar | ||||||
| B4GALT4_chr3_119206742_119245878 | 119216439 | CGCACAT | C | intron_variant | MODIFIER | HG00639.hp1 HG01123.hp2 HG01934.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0004others(1): Show | a0001c0001t0001g0101a0001c0001t0003g0018a0001c0001t0003g0041others(4): Show | 11 | 436 | 0.0252 | -6 | c.798 others(20): Show |
B4GALT4 | ENSG00000121578.13 | transcript | ENST00000393765.7 | protein_coding | 6/7 | chr3 | TogoVar | ||||||
| B4GALT4_chr3_119206742_119245878 | 119228826 | TAAAAAG | T | intron_variant | MODIFIER | HG00423.hp2 HG00639.hp2 HG01952.hp2 others(34): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0017a0002c0002t0019 | a0002c0002t0004g0004a0002c0002t0004g0016a0002c0002t0004g0020others(15): Show | 37 | 436 | 0.0849 | -6 | c.253 others(23): Show |
B4GALT4 | ENSG00000121578.13 | transcript | ENST00000393765.7 | protein_coding | 3/7 | chr3 | TogoVar | ||||||
| B4GALT4_chr3_119206742_119245878 | 119232551 | ATTCAGG | A | intron_variant | MODIFIER | HG01433.hp2 HG01891.hp2 HG02055.hp2 others(9): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0012a0001c0003t0001others(2): Show | a0001c0001t0001g0014a0001c0001t0001g0128a0001c0001t0001g0131others(5): Show | 12 | 436 | 0.0275 | -6 | c.-14 others(25): Show |
B4GALT4 | ENSG00000121578.13 | transcript | ENST00000393765.7 | protein_coding | 2/7 | chr3 | TogoVar | ||||||
| B4GALT5_chr20_49627945_49718878 | 49629541 | TGTGTGG | T | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00423.hp1 others(95): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0004a0001c0001t0018others(10): Show | a0001c0001t0002g0025a0001c0001t0002g0026a0001c0001t0002g0027others(95): Show | 98 | 364 | 0.2692 | -6 | c.*67 others(17): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 3403 | chr20 | TogoVar | ||||||
| B4GALT5_chr20_49627945_49718878 | 49641118 | AAAAAAG | A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00438.hp1 others(41): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0018a0001c0001t0048others(1): Show | a0001c0001t0004g0103a0001c0001t0004g0104a0001c0001t0004g0105others(41): Show | 44 | 364 | 0.1209 | -6 | c.607 others(21): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 5/8 | chr20 | TogoVar | ||||||
| B4GALT5_chr20_49627945_49718878 | 49663690 | AATATAT | A | intron_variant | MODIFIER | HG00544.hp1 HG03017.hp1 HG03579.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0046a0001c0003t0003 | a0001c0001t0002g0026a0001c0001t0002g0032a0001c0001t0002g0037others(7): Show | 10 | 364 | 0.0275 | -6 | c.116 others(23): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
| B4GALT5_chr20_49627945_49718878 | 49664421 | TACACAC | T | intron_variant | MODIFIER | HG01358.hp2 HG01978.hp2 HG02165.hp1 others(14): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0008a0001c0001t0012a0001c0003t0003others(5): Show | a0001c0001t0008g0210a0001c0001t0012g0092a0001c0001t0012g0093others(14): Show | 17 | 364 | 0.0467 | -6 | c.116 others(23): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
| B4GALT5_chr20_49627945_49718878 | 49665440 | GTAATAA | G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp2 others(53): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(12): Show | a0001c0001t0002g0025a0001c0001t0002g0026a0001c0001t0002g0027others(53): Show | 56 | 364 | 0.1539 | -6 | c.116 others(23): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
| B4GALT5_chr20_49627945_49718878 | 49694652 | GGGAAAA | G | intron_variant | MODIFIER | HG02451.hp2 HG02615.hp2 HG02630.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0012a0001c0001t0033 | a0001c0001t0008g0202a0001c0001t0008g0209a0001c0001t0008g0210others(7): Show | 10 | 364 | 0.0275 | -6 | c.115 others(25): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
| B4GALT5_chr20_49627945_49718878 | 49694658 | AGGAAAG | A | intron_variant | MODIFIER | HG02258.hp2 HG03209.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0035a0001c0003t0003 | a0001c0001t0035g0128a0001c0003t0003g0086a0001c0003t0003g0161 | 3 | 364 | 0.0082 | -6 | c.115 others(25): Show |
B4GALT5 | ENSG00000158470.5 | transcript | ENST00000371711.4 | protein_coding | 1/8 | chr20 | TogoVar | ||||||
| BAALC_chr8_103135725_103235305 | 103154920 | CTATATA | C | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00544.hp1 others(86): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0069a0001c0001t0001g0070a0001c0001t0001g0176others(73): Show | 89 | 332 | 0.2681 | -6 | c.160 others(25): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| BABAM1_chr19_17262443_17284337 | 17280981 | CAAAAAA | C | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02630.hp2 HG03041.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0002t0001a0001c0006t0001 | a0001c0001t0001g0002a0001c0001t0001g0033a0001c0002t0001g0008others(2): Show | 6 | 424 | 0.0142 | -6 | c.*19 others(17): Show |
BABAM1 | ENSG00000105393.16 | transcript | ENST00000598188.6 | protein_coding | 1645 | chr19 | TogoVar | ||||||
| BABAM2_chr2_27885729_28343901 | 27982844 | TACACAC | T | intron_variant | MODIFIER | HG03225.hp1 HG03486.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0088a0001c0001t0001g0091a0001c0001t0004g0118 | 3 | 158 | 0.0190 | -6 | c.206 others(23): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BABAM2_chr2_27885729_28343901 | 28013694 | TACACAC | T | intron_variant | MODIFIER | HG01109.hp2 HG03139.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0027a0001c0001t0002g0010a0001c0001t0002g0011others(1): Show | 4 | 158 | 0.0253 | -6 | c.301 others(25): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BABAM2_chr2_27885729_28343901 | 28115182 | AACACAC | A | intron_variant | MODIFIER | HG01891.hp2 HG02040.hp2 HG02615.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0035a0001c0001t0001g0157a0001c0001t0002g0010others(3): Show | 6 | 158 | 0.0380 | -6 | c.571 others(25): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BABAM2_chr2_27885729_28343901 | 28139340 | AAAAAAG | A | intron_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02976.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0088a0001c0001t0002g0108a0001c0001t0002g0131others(2): Show | 5 | 158 | 0.0317 | -6 | c.680 others(23): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BABAM2_chr2_27885729_28343901 | 28172087 | ATGTGTG | A | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00733.hp2 others(52): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0017a0001c0001t0001g0040a0001c0001t0001g0052others(52): Show | 55 | 158 | 0.3481 | -6 | c.680 others(25): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BABAM2_chr2_27885729_28343901 | 28184263 | CCTCTCT | C | intron_variant | MODIFIER | HG02572.hp1 HG02698.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0074a0001c0001t0001g0081a0001c0001t0002g0012 | 3 | 158 | 0.0190 | -6 | c.681 others(25): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BABAM2_chr2_27885729_28343901 | 28192517 | CTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00733.hp1 HG00733.hp2 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0040a0001c0001t0001g0052a0001c0001t0001g0053others(14): Show | 17 | 158 | 0.1076 | -6 | c.681 others(25): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BABAM2_chr2_27885729_28343901 | 28208029 | CTGTGTG | C | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp1 HG00741.hp2 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0001g0027others(24): Show | 27 | 158 | 0.1709 | -6 | c.681 others(25): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BABAM2_chr2_27885729_28343901 | 28231785 | CTTTTTT | C | intron_variant | MODIFIER | HG00741.hp2 HG01496.hp1 HG01496.hp2 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0008a0001c0001t0001g0032a0001c0001t0001g0058others(10): Show | 13 | 158 | 0.0823 | -6 | c.681 others(23): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BABAM2_chr2_27885729_28343901 | 28315420 | TTTTTTC | T | intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG02735.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0024a0001c0001t0001g0025a0001c0001t0002g0026others(2): Show | 5 | 158 | 0.0317 | -6 | c.108 others(27): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BABAM2_chr2_27885729_28343901 | 28316407 | AGTGGGG | A | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp2 HG00738.hp1 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0044a0001c0001t0001g0045a0001c0001t0001g0091others(25): Show | 28 | 158 | 0.1772 | -6 | c.108 others(27): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BABAM2_chr2_27885729_28343901 | 28335154 | CTTTTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG00735.hp1 others(75): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0008a0001c0001t0001g0013others(75): Show | 78 | 158 | 0.4937 | -6 | c.108 others(25): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| BACE2_chr21_41163160_41287530 | 41174138 | CCTTTTT | C | intron_variant | MODIFIER | HG02109.hp1 HG02280.hp1 HG02965.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0005a0001c0003t0012 | a0001c0001t0007g0002a0001c0003t0005g0051a0001c0003t0012g0207 | 3 | 272 | 0.0110 | -6 | c.312 others(23): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | chr21 | TogoVar | ||||||
| BACE2_chr21_41163160_41287530 | 41221827 | CAAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(50): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0120a0001c0001t0001g0165a0001c0001t0001g0234others(50): Show | 53 | 272 | 0.1949 | -6 | c.313 others(23): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| BACE2_chr21_41163160_41287530 | 41252907 | GCCGACA | G | intron_variant | MODIFIER | HG00280.hp2 HG01069.hp1 HG01071.hp1 others(30): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0001g0234a0001c0001t0001g0268a0001c0001t0005g0005others(30): Show | 33 | 272 | 0.1213 | -6 | c.113 others(25): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 7/8 | chr21 | TogoVar | ||||||
| BACE2_chr21_41163160_41287530 | 41266946 | TTGTGTG | T | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01099.hp2 others(52): Show |
a0001 | a0001c0001a0001c0003a0001c0006 | a0001c0001t0005a0001c0001t0006a0001c0001t0007others(16): Show | a0001c0001t0005g0005a0001c0001t0005g0008a0001c0001t0005g0024others(52): Show | 55 | 272 | 0.2022 | -6 | c.130 others(25): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |