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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BAALC_chr8_103135725_103235305 | 103194370 | GTCTTT | G | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG01243.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0037 a0001c0001t0001g0102 a0001c0001t0001g0104 others(16): Show |
21 | 330 | 0.0636 | -5 | c.161 others(24): Show |
BAALC | ENSG00000164929.17 | transcript | ENST00000309982.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BAAT_chr9_101355417_101390006 | 101366765 | GCTTAT | G | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp1 HG00735.hp2 others(19): Show |
a0002a0003a0009 | a0002c0002a0003c0003a0009c0012 | a0002c0002t0015a0002c0002t0016a0003c0003t0005others(2): Show | a0002c0002t0015g0044 a0002c0002t0016g0045 a0003c0003t0005g0009 others(9): Show |
22 | 416 | 0.0529 | -5 | c.669 others(22): Show |
BAAT | ENSG00000136881.12 | transcript | ENST00000259407.7 | protein_coding | 3/3 | chr9 | TogoVar | |||||||
BAAT_chr9_101355417_101390006 | 101388994 | TATAAC | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00408.hp1 others(80): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0003 a0001c0001t0001g0006 a0001c0001t0001g0011 others(33): Show |
83 | 416 | 0.1995 | -5 | c.-42 others(16): Show |
BAAT | ENSG00000136881.12 | transcript | ENST00000259407.7 | protein_coding | 3989 | chr9 | TogoVar | |||||||
BABAM1_chr19_17262443_17284337 | 17274661 | CAGTCA | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(98): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0005t0001 | a0001c0001t0001g0002 a0001c0001t0001g0007 a0001c0001t0001g0008 others(40): Show |
101 | 422 | 0.2393 | -5 | c.544 others(20): Show |
BABAM1 | ENSG00000105393.16 | transcript | ENST00000598188.6 | protein_coding | 5/8 | chr19 | TogoVar | |||||||
BABAM1_chr19_17262443_17284337 | 17280981 | CAAAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(102): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0002t0001a0001c0005t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(49): Show |
105 | 228 | 0.4605 | -5 | c.*19 others(16): Show |
BABAM1 | ENSG00000105393.16 | transcript | ENST00000598188.6 | protein_coding | 1645 | chr19 | TogoVar | |||||||
BABAM2_chr2_27885729_28343901 | 28103301 | TTTTTG | T | intron_variant | MODIFIER | HG02922.hp1 HG02970.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 a0001c0001t0002g0038 a0001c0001t0002g0039 |
3 | 57 | 0.0526 | -5 | c.571 others(24): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 6/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28181807 | CAAAAT | C | intron_variant | MODIFIER | HG00741.hp2 HG01168.hp2 HG02074.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0092 a0001c0001t0001g0142 a0001c0001t0001g0143 others(7): Show |
10 | 156 | 0.0641 | -5 | c.680 others(24): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28237524 | GTCTTA | G | intron_variant | MODIFIER | HG02280.hp1 HG03453.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 a0001c0001t0001g0056 |
2 | 156 | 0.0128 | -5 | c.780 others(20): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 8/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28315421 | TTTTTC | T | intron_variant | MODIFIER | HG02155.hp1 HG02165.hp2 HG02602.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0013 a0001c0001t0001g0015 a0001c0001t0001g0046 others(7): Show |
10 | 30 | 0.3333 | -5 | c.108 others(26): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BABAM2_chr2_27885729_28343901 | 28335154 | CTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00733.hp2 others(49): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0017 a0001c0001t0001g0032 a0001c0001t0001g0040 others(49): Show |
52 | 130 | 0.4000 | -5 | c.108 others(24): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BACE2_chr21_41163160_41287530 | 41206872 | GTAACT | G | intron_variant | MODIFIER | HG00741.hp2 HG02109.hp1 HG02559.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0005a0001c0001t0007a0001c0001t0011others(3): Show | a0001c0001t0005g0245 a0001c0001t0007g0003 a0001c0001t0007g0199 others(4): Show |
7 | 270 | 0.0259 | -5 | c.313 others(24): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
BACH1_chr21_29293922_29351148 | 29312618 | CAACAA | C | intron_variant | MODIFIER | HG02723.hp1 HG02886.hp1 HG02896.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0046 a0001c0001t0011g0180 a0001c0001t0011g0182 others(1): Show |
5 | 366 | 0.0137 | -5 | c.-60 others(22): Show |
BACH1 | ENSG00000156273.16 | transcript | ENST00000286800.8 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 89939656 | CTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00741.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0126a0001c0002t0003a0001c0002t0004others(27): Show | a0001c0001t0126g0182 a0001c0002t0003g0155 a0001c0002t0004g0081 others(30): Show |
33 | 77 | 0.4286 | -5 | c.183 others(24): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 7/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90127269 | CCCGCT | C | intron_variant | MODIFIER | HG00423.hp1 HG01109.hp2 HG01496.hp2 others(26): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0017others(25): Show | a0001c0001t0004g0016 a0001c0001t0007g0088 a0001c0001t0007g0165 others(26): Show |
29 | 192 | 0.1510 | -5 | c.-16 others(26): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 4/8 | chr6 | TogoVar | |||||||
BACH2_chr6_89921528_90301843 | 90214751 | CTTTTT | C | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp1 HG02258.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0056others(7): Show | a0001c0001t0003g0029 a0001c0001t0007g0088 a0001c0001t0056g0162 others(8): Show |
11 | 99 | 0.1111 | -5 | c.-27 others(24): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 3/8 | chr6 | TogoVar | |||||||
BAG2_chr6_57167326_57194833 | 57170036 | TTGTGG | T | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00597.hp2 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(6): Show | a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0024 others(21): Show |
53 | 242 | 0.2190 | -5 | c.-26 others(16): Show |
BAG2 | ENSG00000112208.11 | transcript | ENST00000370693.5 | protein_coding | 2289 | chr6 | TogoVar | |||||||
BAG2_chr6_57167326_57194833 | 57178765 | TAAAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00597.hp2 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(5): Show | a0001c0001t0002g0002 a0001c0001t0002g0013 a0001c0001t0002g0024 others(20): Show |
52 | 242 | 0.2149 | -5 | c.114 others(22): Show |
BAG2 | ENSG00000112208.11 | transcript | ENST00000370693.5 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BAG4_chr8_38171855_38218301 | 38177649 | TGTAAA | T | intron_variant | MODIFIER | HG02622.hp2 HG02886.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0291 a0001c0001t0001g0292 a0001c0001t0001g0293 |
3 | 304 | 0.0099 | -5 | c.270 others(20): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BAG4_chr8_38171855_38218301 | 38181886 | CAAAAA | C | intron_variant | MODIFIER | HG02257.hp1 HG02559.hp1 HG02723.hp1 others(3): Show |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0008a0001c0001t0027a0005c0004t0008 | a0001c0001t0008g0279 a0001c0001t0008g0280 a0001c0001t0008g0281 others(3): Show |
6 | 112 | 0.0536 | -5 | c.270 others(22): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BAG4_chr8_38171855_38218301 | 38184466 | CAAATA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp2 others(97): Show |
a0001a0002a0005 | a0001c0001a0002c0007a0005c0004 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(7): Show | a0001c0001t0002g0002 a0001c0001t0002g0003 a0001c0001t0002g0013 others(94): Show |
100 | 291 | 0.3436 | -5 | c.270 others(22): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BAG4_chr8_38171855_38218301 | 38201873 | TATATA | T | intron_variant | MODIFIER | HG01175.hp2 HG02735.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0144 a0001c0001t0003g0233 a0001c0001t0003g0242 others(1): Show |
4 | 300 | 0.0133 | -5 | c.379 others(22): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2/4 | chr8 | TogoVar | |||||||
BAG4_chr8_38171855_38218301 | 38201875 | TATATA | T | intron_variant | MODIFIER | HG02630.hp2 HG06807.hp2 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0007 a0001c0001t0003g0191 a0001c0001t0004g0120 |
3 | 300 | 0.0100 | -5 | c.379 others(22): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2/4 | chr8 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98313513 | GGAAGA | G | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG02615.hp2 others(6): Show |
a0001 | a0001c0005 | a0001c0005t0005a0001c0005t0011a0001c0005t0020 | a0001c0005t0005g0004 a0001c0005t0005g0005 a0001c0005t0005g0006 others(6): Show |
9 | 296 | 0.0304 | -5 | c.640 others(22): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 7/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98332382 | CAAAAA | C | intron_variant | MODIFIER | HG00323.hp1 HG02258.hp2 HG02559.hp1 others(7): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0003a0001c0005t0005a0001c0005t0011others(1): Show | a0001c0004t0003g0124 a0001c0005t0005g0004 a0001c0005t0005g0005 others(7): Show |
10 | 89 | 0.1124 | -5 | c.215 others(24): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 3/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98335152 | CAAAAA | C | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG02615.hp2 others(5): Show |
a0001 | a0001c0005 | a0001c0005t0005a0001c0005t0011a0001c0005t0020 | a0001c0005t0005g0004 a0001c0005t0005g0005 a0001c0005t0005g0006 others(5): Show |
8 | 157 | 0.0510 | -5 | c.215 others(24): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 3/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98335175 | AAAAAT | A | intron_variant | MODIFIER | HG01256.hp2 HG01884.hp2 HG02040.hp2 others(3): Show |
a0001a0003 | a0001c0003a0001c0004a0003c0010 | a0001c0003t0003a0001c0004t0003a0003c0010t0003 | a0001c0003t0003g0121 a0001c0003t0003g0138 a0001c0003t0003g0141 others(3): Show |
6 | 296 | 0.0203 | -5 | c.215 others(24): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 3/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98353961 | CAATAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(67): Show |
a0001a0007a0008 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0002g0014 others(67): Show |
70 | 86 | 0.8140 | -5 | c.214 others(22): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 3/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98358306 | TTAAGA | T | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01069.hp1 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0153 a0001c0001t0004g0154 a0001c0001t0004g0155 others(34): Show |
37 | 296 | 0.1250 | -5 | c.128 others(22): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 2/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98364986 | CAAAAA | C | intron_variant | MODIFIER | HG01884.hp1 HG02258.hp2 HG02559.hp1 others(7): Show |
a0001a0003 | a0001c0001a0001c0005a0001c0008others(1): Show | a0001c0001t0002a0001c0005t0005a0001c0008t0002others(1): Show | a0001c0001t0002g0050 a0001c0001t0002g0051 a0001c0005t0005g0004 others(7): Show |
10 | 27 | 0.3704 | -5 | c.52- others(20): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98372670 | AATGTC | A | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp1 NA21309.hp1 |
a0001 | a0001c0005 | a0001c0005t0011a0001c0005t0020 | a0001c0005t0011g0089 a0001c0005t0011g0091 a0001c0005t0020g0090 |
3 | 296 | 0.0101 | -5 | c.52- others(22): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98390408 | TTATAA | T | intron_variant | MODIFIER | HG01884.hp1 HG02109.hp1 HG02486.hp2 |
a0001a0007 | a0001c0001a0007c0013 | a0001c0001t0002a0007c0013t0002 | a0001c0001t0002g0050 a0001c0001t0002g0053 a0007c0013t0002g0052 |
3 | 296 | 0.0101 | -5 | c.51+ others(22): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BAIAP2L1_chr7_98286650_98406090 | 98394517 | GTTTAC | G | intron_variant | MODIFIER | HG02055.hp2 HG03041.hp1 HG03540.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0281 a0001c0002t0001g0282 a0001c0002t0001g0283 others(1): Show |
4 | 296 | 0.0135 | -5 | c.51+ others(20): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BAIAP2_chr17_81030151_81122434 | 81093078 | CCTGGG | C | intron_variant | MODIFIER | HG00099.hp2 HG01361.hp2 HG01891.hp2 others(20): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0003g0043 a0001c0001t0003g0175 a0001c0001t0003g0176 others(20): Show |
23 | 176 | 0.1307 | -5 | c.489 others(22): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAIAP2_chr17_81030151_81122434 | 81109372 | TAAAAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00558.hp1 others(85): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0001g0005 a0001c0001t0001g0040 a0001c0001t0001g0075 others(85): Show |
88 | 162 | 0.5432 | -5 | c.153 others(22): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 13/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
BAMBI_chr10_28672521_28687932 | 28683774 | CAAGGT | C | downstream_gene_variant | MODIFIER | HG00642.hp1 HG02109.hp2 HG02280.hp2 others(7): Show |
a0001 | a0001c0003 | a0001c0003t0005a0001c0003t0016 | a0001c0003t0005g0002 a0001c0003t0005g0041 a0001c0003t0016g0006 |
10 | 434 | 0.0230 | -5 | c.*13 others(16): Show |
BAMBI | ENSG00000095739.11 | transcript | ENST00000375533.6 | protein_coding | 843 | chr10 | TogoVar | |||||||
BANF2_chr20_17694966_17740871 | 17716587 | GGTGCA | G | intron_variant | MODIFIER | HG02135.hp1 NA18978.hp2 NA19004.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0163 a0002c0002t0001g0164 a0002c0002t0001g0168 others(1): Show |
4 | 398 | 0.0101 | -5 | c.-16 others(24): Show |
BANF2 | ENSG00000125888.15 | transcript | ENST00000246090.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 101815786 | CTTGTT | C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(72): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0012others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0094 a0001c0001t0001g0244 a0001c0001t0003g0017 others(72): Show |
75 | 282 | 0.2660 | -5 | c.71- others(22): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 101839937 | ATTTTT | A | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp1 HG01071.hp1 others(6): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0029 a0001c0001t0001g0031 a0001c0001t0001g0034 others(6): Show |
9 | 37 | 0.2432 | -5 | c.469 others(22): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 102005330 | TATAAA | T | intron_variant | MODIFIER | HG02723.hp1 HG02818.hp1 HG06807.hp1 |
a0006a0011 | a0006c0013a0011c0015 | a0006c0013t0003a0006c0013t0004a0011c0015t0003 | a0006c0013t0003g0141 a0006c0013t0004g0143 a0011c0015t0003g0260 |
3 | 282 | 0.0106 | -5 | c.120 others(26): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 102007147 | TATATA | T | intron_variant | MODIFIER | HG00673.hp2 HG01069.hp1 HG01071.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002a0001c0002t0005 | a0001c0002t0001g0173 a0001c0002t0001g0176 a0001c0002t0001g0179 others(8): Show |
11 | 282 | 0.0390 | -5 | c.120 others(26): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | chr4 | TogoVar | |||||||
BANP_chr16_87946434_88082316 | 87948974 | CAAACA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00438.hp1 others(126): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(25): Show | a0001c0001t0001g0006 a0001c0001t0001g0093 a0001c0001t0001g0175 others(122): Show |
129 | 211 | 0.6114 | -5 | c.-26 others(16): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 2459 | chr16 | TogoVar | |||||||
BANP_chr16_87946434_88082316 | 87986566 | TTAAGA | T | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00639.hp2 others(58): Show |
a0001a0002 | a0001c0004a0001c0007a0001c0010others(8): Show | a0001c0004t0004a0001c0004t0012a0001c0007t0001others(11): Show | a0001c0004t0004g0064 a0001c0004t0004g0065 a0001c0004t0004g0066 others(58): Show |
61 | 350 | 0.1743 | -5 | c.362 others(22): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 88033903 | AGGAAG | A | intron_variant | MODIFIER | HG01109.hp1 HG02970.hp2 HG03516.hp2 |
a0001 | a0001c0020a0001c0030 | a0001c0020t0007a0001c0030t0001 | a0001c0020t0007g0140 a0001c0020t0007g0146 a0001c0030t0001g0086 |
3 | 350 | 0.0086 | -5 | c.120 others(22): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 88056457 | CTCTCT | C | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00597.hp2 others(77): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(4): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(7): Show | a0001c0001t0002g0182 a0001c0002t0001g0053 a0001c0002t0002g0003 others(73): Show |
80 | 350 | 0.2286 | -5 | c.131 others(24): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 88079527 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0008a0001c0031 | a0001c0008t0001a0001c0008t0004a0001c0031t0001 | a0001c0008t0001g0163 a0001c0008t0001g0164 a0001c0008t0001g0165 others(3): Show |
6 | 189 | 0.0317 | -5 | c.*28 others(16): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 2212 | chr16 | TogoVar | |||||||
BANP_chr16_87946434_88082316 | 88079834 | TTTTTG | T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00642.hp2 others(47): Show |
a0001a0002 | a0001c0002a0001c0006a0001c0007others(1): Show | a0001c0002t0002a0001c0002t0008a0001c0002t0011others(3): Show | a0001c0002t0002g0003 a0001c0002t0002g0012 a0001c0002t0002g0015 others(44): Show |
50 | 350 | 0.1429 | -5 | c.*31 others(16): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 2519 | chr16 | TogoVar | |||||||
BARD1_chr2_214720646_214814683 | 214725781 | TAAGAC | T | 3_prime_UTR_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00673.hp1 others(58): Show |
a0001a0002a0006 | a0001c0002a0001c0003a0001c0021others(3): Show | a0001c0002t0003a0001c0002t0007a0001c0002t0019others(9): Show | a0001c0002t0003g0004 a0001c0002t0003g0025 a0001c0002t0003g0026 others(54): Show |
61 | 360 | 0.1694 | -5 | c.*28 others(16): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 11/11 | 2890 | chr2 | TogoVar | ||||||
BARD1_chr2_214720646_214814683 | 214773927 | CTGTTT | C | intron_variant | MODIFIER | HG01123.hp2 HG02004.hp1 HG02257.hp2 others(5): Show |
a0001a0006 | a0001c0004a0006c0018 | a0001c0004t0017a0001c0004t0033a0006c0018t0010 | a0001c0004t0017g0223 a0001c0004t0017g0224 a0001c0004t0017g0230 others(5): Show |
8 | 360 | 0.0222 | -5 | c.131 others(24): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 4/10 | chr2 | TogoVar | |||||||
BARD1_chr2_214720646_214814683 | 214804210 | CAAGTA | C | intron_variant | MODIFIER | NA18945.hp1 NA19000.hp1 NA19055.hp2 |
a0002a0007 | a0002c0001a0007c0008 | a0002c0001t0001a0002c0001t0046a0007c0008t0029 | a0002c0001t0001g0135 a0002c0001t0046g0136 a0007c0008t0029g0203 |
3 | 360 | 0.0083 | -5 | c.158 others(22): Show |
BARD1 | ENSG00000138376.11 | transcript | ENST00000260947.9 | protein_coding | 1/10 | chr2 | TogoVar | |||||||
BARHL2_chr1_90706539_90722302 | 90719504 | GAAAAA | G | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(79): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0016 others(15): Show |
82 | 96 | 0.8542 | -5 | c.-23 others(16): Show |
BARHL2 | ENSG00000143032.8 | transcript | ENST00000370445.5 | protein_coding | 2203 | chr1 | TogoVar |