view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0002t0001g0130 others(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 | a0001c0002t0001g0089 a0001c0002t0001g0094 a0001c0002t0001g0130 others(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 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0009 others(98): Show |
112 | 378 | 0.2963 | -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 | a0001c0001t0001g0248 a0001c0001t0001g0269 a0001c0001t0001g0373 others(56): Show |
59 | 102 | 0.5784 | -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 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0020 others(225): Show |
228 | 247 | 0.9231 | -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 | a0001c0001t0002g0209 a0001c0001t0002g0294 a0001c0001t0004g0298 others(22): Show |
25 | 392 | 0.0638 | -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 | a0001c0001t0001g0116 a0001c0001t0001g0223 a0001c0001t0004g0214 others(12): Show |
15 | 392 | 0.0383 | -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 | a0001c0001t0004g0298 a0001c0001t0013g0391 a0001c0042t0002g0203 others(1): Show |
4 | 371 | 0.0108 | -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 | a0001c0001t0002g0024 a0001c0001t0002g0126 a0001c0001t0012g0260 others(22): Show |
25 | 392 | 0.0638 | -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 | a0001c0001t0001g0020 a0001c0001t0001g0112 a0001c0001t0001g0375 others(16): Show |
19 | 89 | 0.2135 | -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 | a0001c0001t0031g0314 a0003c0004t0004g0390 a0003c0049t0002g0091 others(3): Show |
6 | 197 | 0.0305 | -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 | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(7): Show | a0001c0001t0001g0055 a0001c0001t0001g0171 a0001c0001t0004g0009 others(24): Show |
29 | 363 | 0.0799 | -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 | a0001c0001t0001a0001c0001t0004a0001c0001t0018 | a0001c0001t0001g0171 a0001c0001t0004g0009 a0001c0001t0018g0167 others(1): Show |
5 | 20 | 0.2500 | -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 | a0001c0001t0001g0015 a0001c0001t0001g0096 a0001c0001t0001g0097 others(3): Show |
7 | 373 | 0.0188 | -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 | a0001c0001t0001g0098 a0001c0001t0003g0018 a0001c0001t0003g0041 others(4): Show |
11 | 434 | 0.0253 | -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 | a0002c0002t0004g0004 a0002c0002t0004g0016 a0002c0002t0004g0020 others(14): Show |
37 | 434 | 0.0853 | -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 | a0001c0001t0001g0014 a0001c0001t0001g0126 a0001c0001t0001g0129 others(5): Show |
12 | 434 | 0.0276 | -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 | a0001c0001t0002g0001 a0001c0001t0002g0027 a0001c0001t0002g0028 others(94): Show |
98 | 357 | 0.2745 | -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 | a0001c0001t0004g0101 a0001c0001t0004g0102 a0001c0001t0004g0103 others(41): Show |
44 | 362 | 0.1215 | -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 | a0001c0001t0002g0028 a0001c0001t0002g0034 a0001c0001t0002g0040 others(7): Show |
10 | 331 | 0.0302 | -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 | a0001c0001t0008g0208 a0001c0001t0012g0090 a0001c0001t0012g0091 others(14): Show |
17 | 98 | 0.1735 | -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 | a0001c0001t0002g0001 a0001c0001t0002g0027 a0001c0001t0002g0028 others(52): Show |
56 | 242 | 0.2314 | -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 | a0001c0001t0008g0200 a0001c0001t0008g0207 a0001c0001t0008g0208 others(7): Show |
10 | 362 | 0.0276 | -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 | a0001c0001t0035g0126 a0001c0003t0003g0002 a0001c0003t0003g0149 |
3 | 85 | 0.0353 | -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(85): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0069 a0001c0001t0001g0070 a0001c0001t0001g0175 others(72): Show |
88 | 221 | 0.3982 | -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 | a0001c0001t0001g0002 a0001c0001t0001g0032 a0001c0002t0001g0006 others(2): Show |
6 | 129 | 0.0465 | -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 | a0001c0001t0001g0088 a0001c0001t0001g0091 a0001c0001t0004g0118 |
3 | 44 | 0.0682 | -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 | a0001c0001t0001g0027 a0001c0001t0002g0010 a0001c0001t0002g0011 others(1): Show |
4 | 36 | 0.1111 | -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 | a0001c0001t0001g0035 a0001c0001t0001g0157 a0001c0001t0002g0010 others(3): Show |
6 | 40 | 0.1500 | -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 | a0001c0001t0001g0088 a0001c0001t0002g0108 a0001c0001t0002g0131 others(2): Show |
5 | 139 | 0.0360 | -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 | a0001c0001t0001g0017 a0001c0001t0001g0040 a0001c0001t0001g0053 others(52): Show |
55 | 106 | 0.5189 | -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 | a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0002g0012 |
3 | 66 | 0.0455 | -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 | a0001c0001t0001g0040 a0001c0001t0001g0053 a0001c0001t0001g0054 others(14): Show |
17 | 143 | 0.1189 | -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 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0001g0027 others(24): Show |
27 | 37 | 0.7297 | -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 | a0001c0001t0001g0008 a0001c0001t0001g0032 a0001c0001t0001g0059 others(10): Show |
13 | 19 | 0.6842 | -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 | a0001c0001t0001g0024 a0001c0001t0001g0025 a0001c0001t0002g0026 others(2): Show |
5 | 155 | 0.0323 | -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 | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0091 others(25): Show |
28 | 155 | 0.1806 | -6 | c.108 others(27): 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 | a0001c0001t0007g0003 a0001c0003t0005g0052 a0001c0003t0012g0205 |
3 | 99 | 0.0303 | -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 | a0001c0001t0001g0121 a0001c0001t0001g0187 a0001c0001t0001g0232 others(48): Show |
53 | 168 | 0.3155 | -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 | a0001c0001t0001g0232 a0001c0001t0001g0263 a0001c0001t0005g0006 others(28): Show |
33 | 270 | 0.1222 | -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 | a0001c0001t0005g0006 a0001c0001t0005g0009 a0001c0001t0005g0023 others(50): Show |
55 | 62 | 0.8871 | -6 | c.130 others(25): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
BACH1_chr21_29293922_29351148 | 29306169 | AGTGTGT | A | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG01109.hp1 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0008a0001c0001t0027a0001c0001t0028others(6): Show | a0001c0001t0008g0022 a0001c0001t0008g0025 a0001c0001t0027g0062 others(8): Show |
13 | 84 | 0.1548 | -6 | c.-61 others(23): Show |
BACH1 | ENSG00000156273.16 | transcript | ENST00000286800.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
BACH1_chr21_29293922_29351148 | 29324556 | TTGTGTG | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00438.hp1 others(79): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0014a0001c0001t0026others(6): Show | a0001c0001t0002g0001 a0001c0001t0002g0005 a0001c0001t0002g0009 others(47): Show |
82 | 99 | 0.8283 | -6 | c.235 others(23): Show |
BACH1 | ENSG00000156273.16 | transcript | ENST00000286800.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
BACH1_chr21_29293922_29351148 | 29337929 | TAAAACA | T | intron_variant | MODIFIER | HG00544.hp2 HG02280.hp2 HG02895.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0011a0001c0001t0012others(4): Show | a0001c0001t0007g0230 a0001c0001t0007g0231 a0001c0001t0007g0232 others(17): Show |
23 | 365 | 0.0630 | -6 | c.177 others(25): Show |
BACH1 | ENSG00000156273.16 | transcript | ENST00000286800.8 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
BACH1_chr21_29293922_29351148 | 29344634 | TTGTGTG | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(103): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0011a0001c0001t0027a0001c0001t0028others(11): Show | a0001c0001t0011g0046 a0001c0001t0011g0180 a0001c0001t0011g0182 others(79): Show |
106 | 161 | 0.6584 | -6 | c.*18 others(17): Show |
BACH1 | ENSG00000156273.16 | transcript | ENST00000286800.8 | protein_coding | 5/5 | 1831 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
BACH2_chr6_89921528_90301843 | 89930114 | GACACAC | G | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp1 others(34): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0011others(22): Show | a0001c0001t0001g0063 a0001c0001t0001g0064 a0001c0001t0001g0101 others(34): Show |
37 | 82 | 0.4512 | -6 | c.*22 others(17): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 9/9 | 2288 | chr6 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 89939656 | CTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00621.hp1 HG00621.hp2 others(55): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0012others(47): Show | a0001c0001t0001g0101 a0001c0001t0001g0141 a0001c0001t0011g0091 others(55): Show |
58 | 102 | 0.5686 | -6 | c.183 others(25): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 7/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 89959097 | GCACACA | G | intron_variant | MODIFIER | HG00738.hp1 HG02055.hp1 HG02559.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0027a0001c0001t0042others(6): Show | a0001c0001t0004g0036 a0001c0001t0027g0187 a0001c0001t0042g0094 others(6): Show |
9 | 23 | 0.3913 | -6 | c.244 others(23): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90102791 | AAATAAT | A | intron_variant | MODIFIER | HG00423.hp2 HG00642.hp2 HG01175.hp1 others(23): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0012others(18): Show | a0001c0001t0003g0053 a0001c0001t0007g0165 a0001c0001t0012g0044 others(23): Show |
26 | 85 | 0.3059 | -6 | c.-16 others(27): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90210312 | AACACAC | A | intron_variant | MODIFIER | HG02602.hp2 HG02698.hp1 |
a0001 | a0001c0002 | a0001c0002t0077a0001c0002t0083 | a0001c0002t0077g0152 a0001c0002t0083g0154 |
2 | 38 | 0.0526 | -6 | c.-27 others(25): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 3/8 | chr6 | TogoVar |