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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BABAM2_chr2_27885729_28343901 | 28236257 | GTGATAAA | G | intron_variant | MODIFIER | HG01891.hp2 HG02572.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0015 others(3): Show |
6 | 156 | 0.0385 | -7 | c.681 others(22): Show |
BABAM2 | ENSG00000158019.21 | transcript | ENST00000379624.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BACE2_chr21_41163160_41287530 | 41221827 | CAAAAAAA | C | intron_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01071.hp1 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(16): Show | a0001c0001t0002g0008 a0001c0001t0002g0027 a0001c0001t0002g0050 others(40): Show |
43 | 158 | 0.2722 | -7 | c.313 others(24): Show |
BACE2 | ENSG00000182240.16 | transcript | ENST00000330333.11 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
BACH2_chr6_89921528_90301843 | 89973895 | TATTTCAG | T | intron_variant | MODIFIER | HG01109.hp1 HG02970.hp1 HG03139.hp2 others(2): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0010 | a0001c0001t0020a0001c0001t0042a0001c0001t0070others(2): Show | a0001c0001t0020g0089 a0001c0001t0042g0094 a0001c0001t0070g0147 others(2): Show |
5 | 192 | 0.0260 | -7 | c.244 others(26): Show |
BACH2 | ENSG00000112182.16 | transcript | ENST00000257749.9 | protein_coding | 6/8 | chr6 | TogoVar | |||||||
BAG4_chr8_38171855_38218301 | 38201867 | TATATATA | T | intron_variant | MODIFIER | HG00609.hp2 HG02523.hp1 NA18944.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 a0001c0001t0001g0108 a0001c0001t0001g0109 others(1): Show |
4 | 294 | 0.0136 | -7 | c.379 others(24): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2/4 | chr8 | TogoVar | |||||||
BAG4_chr8_38171855_38218301 | 38201869 | TATATATA | T | intron_variant | MODIFIER | HG00741.hp1 HG03453.hp1 NA18957.hp2 others(4): Show |
a0001a0007 | a0001c0001a0007c0005 | a0001c0001t0001a0007c0005t0001 | a0001c0001t0001g0101 a0001c0001t0001g0112 a0001c0001t0001g0114 others(4): Show |
7 | 292 | 0.0240 | -7 | c.379 others(24): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2/4 | chr8 | TogoVar | |||||||
BAG4_chr8_38171855_38218301 | 38201871 | TATATATA | T | intron_variant | MODIFIER | NA18961.hp2 NA18982.hp1 NA18982.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0001 a0001c0001t0001g0102 a0001c0001t0001g0162 others(2): Show |
5 | 301 | 0.0166 | -7 | c.379 others(24): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2/4 | chr8 | TogoVar | |||||||
BAG4_chr8_38171855_38218301 | 38201873 | TATATATA | T | intron_variant | MODIFIER | HG02897.hp1 HG02897.hp2 NA18939.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007 | a0001c0001t0001g0264 a0001c0001t0004g0143 a0001c0001t0004g0258 others(1): Show |
4 | 300 | 0.0133 | -7 | c.379 others(24): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2/4 | chr8 | TogoVar | |||||||
BAG5_chr14_103551551_103567657 | 103563516 | AAGCGGCG | A | upstream_gene_variant | MODIFIER | HG03130.hp2 HG03453.hp2 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0019 a0001c0001t0008g0043 |
3 | 408 | 0.0074 | -7 | c.-93 others(16): Show |
BAG5 | ENSG00000166170.12 | transcript | ENST00000299204.6 | protein_coding | 860 | chr14 | TogoVar | |||||||
BAHD1_chr15_40435953_40473236 | 40451145 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp1 HG01891.hp1 HG02055.hp1 others(19): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0002a0001c0001t0004a0001c0008t0004 | a0001c0001t0002g0007 a0001c0001t0002g0102 a0001c0001t0004g0007 others(12): Show |
22 | 178 | 0.1236 | -7 | c.-14 others(24): Show |
BAHD1 | ENSG00000140320.12 | transcript | ENST00000416165.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BAHD1_chr15_40435953_40473236 | 40457335 | CCTGGGTA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(221): Show |
a0001a0006a0007others(3): Show | a0001c0001a0001c0010a0006c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0004 others(135): Show |
224 | 370 | 0.6054 | -7 | c.-14 others(24): Show |
BAHD1 | ENSG00000140320.12 | transcript | ENST00000416165.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BAIAP2L1_chr7_98286650_98406090 | 98363027 | CTTTTTTT | C | intron_variant | MODIFIER | HG00673.hp1 HG02258.hp2 HG02559.hp1 others(4): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0002a0001c0005t0005 | a0001c0001t0002g0077 a0001c0005t0005g0004 a0001c0005t0005g0005 others(4): Show |
7 | 176 | 0.0398 | -7 | c.52- others(20): Show |
BAIAP2L1 | ENSG00000006453.14 | transcript | ENST00000005260.9 | protein_coding | 1/13 | chr7 | TogoVar | |||||||
BAK1_chr6_33567552_33585276 | 33582240 | AAAAATAC | A | upstream_gene_variant | MODIFIER | HG00408.hp1 NA18975.hp2 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0089 |
3 | 432 | 0.0069 | -7 | c.-22 others(18): Show |
BAK1 | ENSG00000030110.14 | transcript | ENST00000374467.4 | protein_coding | 1965 | chr6 | TogoVar | |||||||
BANF1_chr11_65997503_66009149 | 66003579 | TCACTGAG | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(174): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0012 |
177 | 372 | 0.4758 | -7 | c.124 others(20): Show |
BANF1 | ENSG00000175334.8 | transcript | ENST00000312175.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 101800136 | TGGGGGGA | T | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00423.hp2 others(142): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0010others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0020 a0001c0001t0001g0021 a0001c0001t0001g0023 others(141): Show |
145 | 278 | 0.5216 | -7 | c.70+ others(22): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 101803997 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(37): Show |
a0001a0002a0003others(4): Show | a0001c0002a0002c0003a0003c0004others(5): Show | a0001c0002t0003a0002c0003t0002a0003c0004t0001others(7): Show | a0001c0002t0003g0157 a0002c0003t0002g0008 a0003c0004t0001g0006 others(37): Show |
40 | 83 | 0.4819 | -7 | c.70+ others(24): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 101957816 | GTTTTTGT | G | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00558.hp2 others(46): Show |
a0001a0003a0004 | a0001c0001a0003c0004a0004c0005others(1): Show | a0001c0001t0001a0003c0004t0001a0003c0004t0003others(3): Show | a0001c0001t0001g0149 a0001c0001t0001g0150 a0001c0001t0001g0151 others(46): Show |
49 | 282 | 0.1738 | -7 | c.120 others(28): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 7/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANK1_chr4_101785730_102079812 | 102043243 | GTGAGTAA | G | intron_variant | MODIFIER | HG02280.hp1 HG02615.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0020 a0001c0001t0003g0070 a0001c0002t0001g0113 others(1): Show |
4 | 282 | 0.0142 | -7 | c.190 others(24): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 87967254 | CTTTTTTT | C | intron_variant | MODIFIER | HG01074.hp2 HG01934.hp2 HG01975.hp1 others(4): Show |
a0001 | a0001c0001a0001c0017 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0188 a0001c0001t0001g0234 a0001c0001t0001g0235 others(4): Show |
7 | 61 | 0.1148 | -7 | c.-68 others(24): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 87973753 | CAAAAAAA | C | intron_variant | MODIFIER | HG00438.hp2 HG00639.hp1 HG00735.hp2 others(42): Show |
a0001a0002 | a0001c0004a0001c0008a0001c0010others(5): Show | a0001c0004t0004a0001c0004t0012a0001c0008t0004others(6): Show | a0001c0004t0004g0064 a0001c0004t0004g0065 a0001c0004t0004g0066 others(42): Show |
45 | 313 | 0.1438 | -7 | c.-68 others(24): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BANP_chr16_87946434_88082316 | 88043893 | CTTAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00741.hp1 HG01081.hp2 others(84): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0008others(13): Show | a0001c0001t0001a0001c0001t0005a0001c0005t0005others(19): Show | a0001c0001t0001g0106 a0001c0001t0001g0251 a0001c0001t0001g0252 others(83): Show |
87 | 350 | 0.2486 | -7 | c.131 others(26): Show |
BANP | ENSG00000172530.22 | transcript | ENST00000682872.1 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BASP1_chr5_17212631_17281834 | 17212996 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02280.hp2 HG02622.hp1 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0049 a0001c0001t0003g0051 a0001c0001t0003g0168 others(9): Show |
12 | 115 | 0.1043 | -7 | c.-48 others(18): Show |
BASP1 | ENSG00000176788.9 | transcript | ENST00000322611.4 | protein_coding | 4634 | chr5 | TogoVar | |||||||
BATF2_chr11_64982945_65001971 | 64983553 | TTATTTTA | T | downstream_gene_variant | MODIFIER | HG01243.hp2 HG02258.hp2 HG02809.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 402 | 0.0100 | -7 | c.*55 others(18): Show |
BATF2 | ENSG00000168062.10 | transcript | ENST00000301887.9 | protein_coding | 4391 | chr11 | TogoVar | |||||||
BATF2_chr11_64982945_65001971 | 64983614 | TTATTTTA | T | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(94): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0011others(2): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0010 others(18): Show |
97 | 396 | 0.2449 | -7 | c.*55 others(18): Show |
BATF2 | ENSG00000168062.10 | transcript | ENST00000301887.9 | protein_coding | 4330 | chr11 | TogoVar | |||||||
BATF2_chr11_64982945_65001971 | 64983907 | ACCACCCT | A | downstream_gene_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0028 a0001c0001t0001g0051 a0001c0001t0012g0052 |
4 | 402 | 0.0100 | -7 | c.*52 others(18): Show |
BATF2 | ENSG00000168062.10 | transcript | ENST00000301887.9 | protein_coding | 4037 | chr11 | TogoVar | |||||||
BATF_chr14_75517469_75551992 | 75544792 | ATTTTTTT | A | intron_variant | MODIFIER | HG01981.hp1 HG02074.hp1 HG02155.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 a0001c0001t0001g0226 a0001c0001t0001g0237 others(4): Show |
7 | 53 | 0.1321 | -7 | c.169 others(24): Show |
BATF | ENSG00000156127.8 | transcript | ENST00000286639.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
BAX_chr19_48949875_48966798 | 48956819 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(87): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0004a0003c0003t0001 | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0013 others(25): Show |
90 | 96 | 0.9375 | -7 | c.369 others(22): Show |
BAX | ENSG00000087088.21 | transcript | ENST00000345358.12 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BAZ1A_chr14_34747731_34880360 | 34759171 | GTTTTTTT | G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00544.hp1 others(14): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0002t0008a0001c0003t0005others(1): Show | a0001c0002t0002g0136 a0001c0002t0008g0137 a0001c0003t0005g0004 others(14): Show |
17 | 157 | 0.1083 | -7 | c.424 others(24): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 24/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34819160 | AAAAAAAG | A | intron_variant | MODIFIER | HG00642.hp1 HG01069.hp2 HG01109.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0017 a0001c0001t0001g0023 others(9): Show |
12 | 378 | 0.0317 | -7 | c.536 others(24): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 4/26 | chr14 | TogoVar | |||||||
BAZ1A_chr14_34747731_34880360 | 34877239 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(19): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0004a0002c0006others(2): Show | a0001c0001t0001a0001c0004t0004a0002c0006t0002others(3): Show | a0001c0001t0001g0034 a0001c0001t0001g0037 a0001c0001t0001g0038 others(19): Show |
22 | 66 | 0.3333 | -7 | c.-21 others(18): Show |
BAZ1A | ENSG00000198604.11 | transcript | ENST00000360310.6 | protein_coding | 1880 | chr14 | TogoVar | |||||||
BAZ1B_chr7_73435406_73527293 | 73440071 | GAGTGAGA | G | downstream_gene_variant | MODIFIER | HG01361.hp2 NA20752.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0184 a0001c0001t0003g0185 |
2 | 198 | 0.0101 | -7 | c.*16 others(18): Show |
BAZ1B | ENSG00000009954.11 | transcript | ENST00000339594.9 | protein_coding | 334 | chr7 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159454714 | AACAATGC | A | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02630.hp2 others(3): Show |
a0001a0002a0015 | a0001c0001a0002c0002a0015c0017 | a0001c0001t0001a0002c0002t0001a0015c0017t0001 | a0001c0001t0001g0104 a0002c0002t0001g0048 a0002c0002t0001g0050 others(3): Show |
6 | 214 | 0.0280 | -7 | c.146 others(22): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 3/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159519210 | CTTTTTTT | C | intron_variant | MODIFIER | HG00609.hp1 HG00639.hp2 HG02622.hp1 others(2): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0033 a0001c0001t0001g0102 a0001c0001t0001g0116 others(2): Show |
5 | 52 | 0.0962 | -7 | c.-3+ others(24): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BAZ2B_chr2_159313979_159621548 | 159555675 | GTATAAGA | G | intron_variant | MODIFIER | HG00639.hp2 HG02257.hp1 HG02896.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0009 | a0001c0001t0001a0002c0002t0001a0004c0009t0001 | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0104 others(3): Show |
6 | 214 | 0.0280 | -7 | c.-3+ others(20): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 2/36 | chr2 | TogoVar | |||||||
BBC3_chr19_47215824_47236199 | 47215975 | ATTTTTTT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00544.hp1 others(50): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0008 a0001c0001t0001g0016 a0001c0001t0001g0060 others(25): Show |
53 | 211 | 0.2512 | -7 | c.*58 others(18): Show |
BBC3 | ENSG00000105327.18 | transcript | ENST00000439096.3 | protein_coding | 4848 | chr19 | TogoVar | |||||||
BBS2_chr16_56479385_56525024 | 56480406 | GTATTTTT | G | downstream_gene_variant | MODIFIER | HG02559.hp2 HG02622.hp2 HG02717.hp1 others(6): Show |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0001t0003a0001c0008t0003 | a0001c0001t0001g0012 a0001c0001t0001g0119 a0001c0001t0001g0131 others(4): Show |
9 | 395 | 0.0228 | -7 | c.*43 others(18): Show |
BBS2 | ENSG00000125124.14 | transcript | ENST00000245157.11 | protein_coding | 3978 | chr16 | TogoVar | |||||||
BBS4_chr15_72681207_72743473 | 72702802 | CTTTTTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG01168.hp2 HG01192.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 others(4): Show |
7 | 25 | 0.2800 | -7 | c.77- others(22): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72725767 | CCCTTCCT | C | intron_variant | MODIFIER | HG02145.hp1 HG02257.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0007 a0001c0003t0001g0009 a0001c0003t0001g0010 others(3): Show |
6 | 396 | 0.0152 | -7 | c.587 others(24): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS4_chr15_72681207_72743473 | 72725931 | TCCCCTTC | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(175): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(6): Show | a0001c0001t0001g0189 a0001c0001t0001g0190 a0001c0001t0001g0291 others(172): Show |
178 | 375 | 0.4747 | -7 | c.587 others(24): Show |
BBS4 | ENSG00000140463.14 | transcript | ENST00000268057.9 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BBS5_chr2_169474494_169511655 | 169480670 | CTTTTTTT | C | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 HG03486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0003t0020 | a0001c0001t0002g0018 a0001c0001t0002g0080 a0001c0003t0020g0109 others(2): Show |
7 | 35 | 0.2000 | -7 | c.59+ others(22): Show |
BBS5 | ENSG00000163093.12 | transcript | ENST00000295240.8 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33389687 | TAAAAAAA | T | intron_variant | MODIFIER | HG00423.hp2 HG01884.hp1 HG01891.hp1 others(33): Show |
a0001a0002a0003 | a0001c0001a0001c0020a0001c0026others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 others(33): Show |
36 | 113 | 0.3186 | -7 | c.211 others(26): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33450870 | TTTTTTTG | T | intron_variant | MODIFIER | HG00423.hp2 HG01981.hp2 HG02015.hp2 others(25): Show |
a0001a0003 | a0001c0001a0001c0020a0001c0026others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0045 a0001c0001t0001g0049 a0001c0001t0001g0050 others(25): Show |
28 | 266 | 0.1053 | -7 | c.211 others(28): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107584122 | ATATATAT | A | intron_variant | MODIFIER | HG01975.hp1 HG02886.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0217 a0001c0001t0002g0102 a0001c0001t0002g0215 others(1): Show |
4 | 220 | 0.0182 | -7 | c.-84 others(26): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107645293 | TTAAAAAA | T | intron_variant | MODIFIER | HG01070.hp1 HG03831.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0040 | a0001c0001t0002g0006 a0001c0001t0040g0007 |
2 | 220 | 0.0091 | -7 | c.-83 others(22): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 2/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BBX_chr3_107517962_107816339 | 107687334 | CTTTTTTT | C | intron_variant | MODIFIER | HG01081.hp2 HG02809.hp2 HG03195.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006 | a0001c0001t0002g0214 a0001c0001t0002g0216 a0001c0001t0006g0046 others(2): Show |
5 | 123 | 0.0407 | -7 | c.-9- others(24): Show |
BBX | ENSG00000114439.19 | transcript | ENST00000325805.13 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BCAN_chr1_156637117_156664528 | 156646647 | AGGACCCT | A | intron_variant | MODIFIER | HG00738.hp1 HG01106.hp1 HG01106.hp2 others(12): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0206 a0001c0001t0001g0208 a0001c0001t0002g0159 others(12): Show |
15 | 418 | 0.0359 | -7 | c.92- others(20): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BCAN_chr1_156637117_156664528 | 156646650 | ACCCTGGC | A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00423.hp2 others(135): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0001others(6): Show | a0001c0001t0001g0010 a0001c0001t0001g0023 a0001c0001t0001g0077 others(89): Show |
138 | 383 | 0.3603 | -7 | c.92- others(20): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BCAP29_chr7_107575246_107625478 | 107599248 | TATATATA | T | intron_variant | MODIFIER | HG02109.hp2 HG03098.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0342 a0001c0001t0002g0343 a0001c0001t0002g0344 |
3 | 396 | 0.0076 | -7 | c.481 others(24): Show |
BCAP29 | ENSG00000075790.12 | transcript | ENST00000005259.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BCAR1_chr16_75223181_75256624 | 75245964 | CTTTTTTT | C | intron_variant | MODIFIER | HG02257.hp2 HG02818.hp2 NA18522.hp1 others(3): Show |
a0001a0002 | a0001c0003a0002c0002a0002c0004others(1): Show | a0001c0003t0001a0002c0002t0001a0002c0004t0001others(1): Show | a0001c0003t0001g0218 a0002c0002t0001g0003 a0002c0002t0001g0038 others(2): Show |
6 | 25 | 0.2400 | -7 | c.13- others(22): Show |
BCAR1 | ENSG00000050820.17 | transcript | ENST00000162330.10 | protein_coding | 1/6 | chr16 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 53960490 | AAAAAAAG | A | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp2 HG01978.hp1 others(12): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0017a0002c0002others(5): Show | a0001c0001t0009a0001c0001t0010a0001c0001t0037others(9): Show | a0001c0001t0009g0257 a0001c0001t0010g0076 a0001c0001t0037g0356 others(12): Show |
15 | 362 | 0.0414 | -7 | c.148 others(26): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 10/12 | chr20 | TogoVar | |||||||
BCAS1_chr20_53938541_54075594 | 54065157 | TATCTATC | T | intron_variant | MODIFIER | HG01081.hp1 HG01516.hp1 HG02027.hp1 others(5): Show |
a0001a0006a0012 | a0001c0001a0001c0007a0006c0006others(1): Show | a0001c0001t0004a0001c0007t0015a0006c0006t0017others(2): Show | a0001c0001t0004g0331 a0001c0001t0004g0334 a0001c0001t0004g0340 others(5): Show |
8 | 362 | 0.0221 | -7 | c.-6+ others(22): Show |
BCAS1 | ENSG00000064787.14 | transcript | ENST00000688948.1 | protein_coding | 1/12 | chr20 | TogoVar |