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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BACH1_chr21_29293922_29351148 | 29294321 | CCCCCACC others(20): Show |
C | upstream_gene_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 368 | 0.0027 | -27 | c.-46 others(38): Show |
BACH1 | ENSG00000156273.16 | transcript | ENST00000286800.8 | protein_coding | 4600 | chr21 | TogoVar | ||||||
BAG3_chr10_119646380_119682819 | 119675797 | TCCCCTTC others(20): Show |
T | intron_variant | MODIFIER | NA21309.hp1 NA21309.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0187a0001c0002t0001g0310 | 2 | 420 | 0.0048 | -27 | c.910 others(42): Show |
BAG3 | ENSG00000151929.10 | transcript | ENST00000369085.8 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BAG4_chr8_38171855_38218301 | 38201864 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01243.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0080a0001c0001t0002g0081 | 2 | 306 | 0.0065 | -27 | c.379 others(44): Show |
BAG4 | ENSG00000156735.11 | transcript | ENST00000287322.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
BAHD1_chr15_40435953_40473236 | 40441862 | AGGGCCGC others(20): Show |
A | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0227 | 1 | 372 | 0.0027 | -27 | c.-15 others(42): Show |
BAHD1 | ENSG00000140320.12 | transcript | ENST00000416165.6 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
BAIAP2_chr17_81030151_81122434 | 81119632 | CGGCCCCG others(20): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01168.hp1 HG01261.hp2 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(3): Show | a0001c0001t0004g0083a0001c0001t0005g0074a0001c0001t0005g0261others(7): Show | 10 | 376 | 0.0266 | -27 | c.*37 others(38): Show |
BAIAP2 | ENSG00000175866.16 | transcript | ENST00000428708.7 | protein_coding | 2199 | chr17 | TogoVar | ||||||
BAIAP3_chr16_1328645_1354439 | 1345533 | TCCCCAGC others(20): Show |
T | intron_variant | MODIFIER | HG03834.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0116 | 1 | 358 | 0.0028 | -27 | c.206 others(44): Show |
BAIAP3 | ENSG00000007516.15 | transcript | ENST00000426824.8 | protein_coding | 22/33 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BANK1_chr4_101785730_102079812 | 101839937 | ATTTTTTT others(20): Show |
A | intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 284 | 0.0035 | -27 | c.469 others(44): Show |
BANK1 | ENSG00000153064.12 | transcript | ENST00000322953.9 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BAZ2A_chr12_56590596_56635326 | 56597573 | CACACACA others(20): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02145.hp2 HG02647.hp2 HG02895.hp2 |
a0001a0006 | a0001c0003a0006c0015 | a0001c0003t0051a0001c0003t0058a0006c0015t0055 | a0001c0003t0051g0231a0001c0003t0058g0224a0006c0015t0055g0227 | 3 | 316 | 0.0095 | -27 | c.*10 others(38): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 29/29 | 1018 | chr12 | TogoVar | |||||
BAZ2A_chr12_56590596_56635326 | 56597610 | CACACACA others(20): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02280.hp1 HG02572.hp1 HG02630.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0022a0001c0003t0023 | a0001c0003t0022g0219a0001c0003t0022g0233a0001c0003t0022g0235others(2): Show | 6 | 316 | 0.0190 | -27 | c.*98 others(37): Show |
BAZ2A | ENSG00000076108.12 | transcript | ENST00000549884.6 | protein_coding | 29/29 | 981 | chr12 | TogoVar | |||||
BAZ2B_chr2_159313979_159621548 | 159366951 | AGCTAAAT others(20): Show |
A | intron_variant | MODIFIER | HG02965.hp1 | a0006 | a0006c0006 | a0006c0006t0002 | a0006c0006t0002g0149 | 1 | 216 | 0.0046 | -27 | c.421 others(46): Show |
BAZ2B | ENSG00000123636.19 | transcript | ENST00000392783.7 | protein_coding | 27/36 | chr2 | TogoVar | ||||||
BBS9_chr7_33124564_33611069 | 33482871 | GTGAATGG others(20): Show |
G | intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 268 | 0.0037 | -27 | c.211 others(48): Show |
BBS9 | ENSG00000122507.21 | transcript | ENST00000242067.11 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BCAN_chr1_156637117_156664528 | 156654894 | GGAAAAGC others(20): Show |
G | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0316 | 1 | 420 | 0.0024 | -27 | c.194 others(46): Show |
BCAN | ENSG00000132692.19 | transcript | ENST00000329117.10 | protein_coding | 8/13 | chr1 | TogoVar | ||||||
BCAS3_chr17_60672851_61397831 | 61046057 | TTATATAT others(20): Show |
T | intron_variant | MODIFIER | NA19043.hp1 | a0003 | a0003c0001 | a0003c0001t0001 | a0003c0001t0001g0005 | 1 | 74 | 0.0135 | -27 | c.202 others(46): Show |
BCAS3 | ENSG00000141376.24 | transcript | ENST00000407086.8 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BCKDHB_chr6_80101671_80351270 | 80236153 | GACTGTGA others(20): Show |
G | intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0137 | 1 | 294 | 0.0034 | -27 | c.951 others(46): Show |
BCKDHB | ENSG00000083123.15 | transcript | ENST00000320393.9 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17715141 | TATATATA others(20): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG02135.hp1 HG03486.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0011 | a0001c0001t0004g0097a0001c0001t0004g0132a0001c0001t0004g0153others(4): Show | 7 | 306 | 0.0229 | -27 | c.601 others(46): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17715143 | TATATATA others(20): Show |
T | intron_variant | MODIFIER | HG01256.hp1 HG01258.hp1 HG01358.hp1 others(3): Show |
a0001 | a0001c0001a0001c0009 | a0001c0001t0004a0001c0009t0004 | a0001c0001t0004g0098a0001c0001t0004g0155a0001c0001t0004g0177others(3): Show | 6 | 306 | 0.0196 | -27 | c.601 others(46): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | chr22 | TogoVar | ||||||
BCL2L13_chr22_17633757_17735855 | 17715144 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG00609.hp2 HG00738.hp2 HG02132.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(4): Show | a0001c0001t0002g0162a0001c0001t0004g0136a0001c0001t0005g0190others(6): Show | 9 | 306 | 0.0294 | -27 | c.601 others(46): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17715146 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp1 HG01081.hp1 others(22): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0007others(5): Show | a0001c0001t0002g0099a0001c0001t0002g0116a0001c0001t0002g0144others(22): Show | 25 | 306 | 0.0817 | -27 | c.601 others(46): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17715148 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00639.hp1 HG02818.hp1 others(4): Show |
a0001a0005 | a0001c0001a0005c0008 | a0001c0001t0002a0005c0008t0019 | a0001c0001t0002g0138a0001c0001t0002g0154a0001c0001t0002g0188others(4): Show | 7 | 306 | 0.0229 | -27 | c.601 others(46): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17715150 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG03041.hp1 HG04228.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0147a0001c0001t0008g0229 | 2 | 306 | 0.0065 | -27 | c.601 others(46): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L13_chr22_17633757_17735855 | 17715152 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG00735.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0033 | a0001c0001t0002g0141a0001c0001t0033g0137 | 2 | 306 | 0.0065 | -27 | c.601 others(46): Show |
BCL2L13 | ENSG00000099968.18 | transcript | ENST00000317582.10 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
BCL2L1_chr20_31659458_31727868 | 31683769 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(70): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0009others(66): Show | 73 | 186 | 0.3925 | -27 | c.565 others(46): Show |
BCL2L1 | ENSG00000171552.14 | transcript | ENST00000307677.5 | protein_coding | 2/2 | chr20 | TogoVar | ||||||
BCORL1_chrX_129977635_130063071 | 130043758 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02148.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0130 | 1 | 203 | 0.0049 | -27 | c.484 others(46): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BDH1_chr3_197504783_197560968 | 197510657 | TGTGTGTG others(20): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03209.hp2 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0040a0001c0001t0233 | a0001c0001t0040g0009a0001c0001t0233g0308 | 2 | 319 | 0.0063 | -27 | c.*12 others(38): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1211 | chr3 | TogoVar | |||||
BEST4_chr1_44778585_44793170 | 44788088 | AACTACCA others(20): Show |
A | 5_prime_UTR_variant | MODIFIER | NA19084.hp2 | a0002 | a0002c0002 | a0002c0002t0013 | a0002c0002t0013g0037 | 1 | 390 | 0.0026 | -27 | c.-41 others(36): Show |
BEST4 | ENSG00000142959.5 | transcript | ENST00000372207.4 | protein_coding | 1/9 | 384 | chr1 | TogoVar | |||||
BEX5_chrX_102148712_102160977 | 102158132 | CTTCTTCT others(20): Show |
C | upstream_gene_variant | MODIFIER | HG02622.hp1 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0002g0008 | 2 | 324 | 0.0062 | -27 | c.-24 others(38): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2156 | chrX | TogoVar | ||||||
BEX5_chrX_102148712_102160977 | 102158135 | CTTCTTCT others(20): Show |
C | upstream_gene_variant | MODIFIER | HG02809.hp1 HG03041.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 3 | 324 | 0.0093 | -27 | c.-24 others(38): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2159 | chrX | TogoVar | ||||||
BEX5_chrX_102148712_102160977 | 102158138 | CTTCTTCT others(20): Show |
C | upstream_gene_variant | MODIFIER | HG02145.hp1 HG03041.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0002g0008 | 2 | 324 | 0.0062 | -27 | c.-24 others(38): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2162 | chrX | TogoVar | ||||||
BEX5_chrX_102148712_102160977 | 102158141 | CTTCTTCT others(20): Show |
C | upstream_gene_variant | MODIFIER | HG02970.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002a0001c0001t0002g0008 | 2 | 324 | 0.0062 | -27 | c.-24 others(38): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2165 | chrX | TogoVar | ||||||
BEX5_chrX_102148712_102160977 | 102158144 | CTTCTTCT others(20): Show |
C | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02486.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0007a0001c0001t0001g0013a0001c0001t0001g0014others(1): Show | 5 | 324 | 0.0154 | -27 | c.-24 others(38): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2168 | chrX | TogoVar | ||||||
BEX5_chrX_102148712_102160977 | 102158147 | CTTCTTCT others(20): Show |
C | upstream_gene_variant | MODIFIER | NA19074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 324 | 0.0031 | -27 | c.-24 others(38): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2171 | chrX | TogoVar | ||||||
BEX5_chrX_102148712_102160977 | 102158150 | CTTCTTAT others(20): Show |
C | upstream_gene_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 1 | 324 | 0.0031 | -27 | c.-24 others(38): Show |
BEX5 | ENSG00000184515.11 | transcript | ENST00000333643.4 | protein_coding | 2174 | chrX | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32252088 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0003 | 1 | 290 | 0.0035 | -27 | c.426 others(46): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICRAL_chr6_42777052_42873556 | 42845195 | GTTTTTTT others(20): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02615.hp1 HG02683.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(2): Show | a0001c0001t0001g0140a0001c0001t0003g0095a0001c0001t0003g0238others(3): Show | 6 | 270 | 0.0222 | -27 | c.184 others(46): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47624226 | TCTCCTAC others(20): Show |
T | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 |
a0004 | a0004c0011 | a0004c0011t0002 | a0004c0011t0002g0041a0004c0011t0002g0217 | 2 | 312 | 0.0064 | -27 | c.-10 others(48): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BIN2_chr12_51276038_51329174 | 51295576 | AAATATAT others(20): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 |
a0001 | a0001c0001a0001c0019 | a0001c0001t0006a0001c0019t0001 | a0001c0001t0006g0270a0001c0019t0001g0269 | 2 | 400 | 0.0050 | -27 | c.761 others(42): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 9/12 | chr12 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51295578 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG02451.hp2 NA18948.hp1 others(4): Show |
a0001a0003 | a0001c0004a0003c0003 | a0001c0004t0001a0003c0003t0001 | a0001c0004t0001g0311a0001c0004t0001g0327a0001c0004t0001g0332others(4): Show | 7 | 400 | 0.0175 | -27 | c.761 others(42): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 9/12 | chr12 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102342360 | ATATATAT others(20): Show |
A | upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 344 | 0.0029 | -27 | c.-62 others(38): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4853 | chr11 | TogoVar | ||||||
BIRC3_chr11_102312484_102344403 | 102342360 | ATATATAT others(20): Show |
A | downstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0001 | 1 | 384 | 0.0026 | -27 | c.*52 others(38): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2958 | chr11 | TogoVar | ||||||
BLOC1S2_chr10_100268293_100291680 | 100277061 | CGCCTCCT others(20): Show |
C | intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 378 | 0.0027 | -27 | c.398 others(44): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86790189 | ATATATAT others(20): Show |
A | intron_variant | MODIFIER | NA19089.hp2 | a0002 | a0002c0001 | a0002c0001t0070 | a0002c0001t0070g0203 | 1 | 278 | 0.0036 | -27 | c.-26 others(48): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | chr10 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86835549 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | NA19088.hp1 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0022 | 1 | 278 | 0.0036 | -27 | c.-26 others(46): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202456063 | CAAAAAAA others(20): Show |
C | intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0001 | a0001c0001t0049 | a0001c0001t0049g0016 | 1 | 224 | 0.0045 | -27 | c.77- others(42): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMS1_chr10_42777795_42839937 | 42779045 | CAAAAAAA others(20): Show |
C | upstream_gene_variant | MODIFIER | NA18956.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0239 | 1 | 388 | 0.0026 | -27 | c.-38 others(38): Show |
BMS1 | ENSG00000165733.8 | transcript | ENST00000374518.6 | protein_coding | 3749 | chr10 | TogoVar | ||||||
BNIP1_chr5_173139531_173169387 | 173148082 | AAATATAT others(20): Show |
A | intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 352 | 0.0028 | -27 | c.177 others(44): Show |
BNIP1 | ENSG00000113734.18 | transcript | ENST00000351486.10 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
BNIP5_chr6_36310761_36341888 | 36324571 | GATATTAT others(20): Show |
G | intron_variant | MODIFIER | HG01258.hp1 NA18967.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0175a0002c0002t0001g0236 | 2 | 424 | 0.0047 | -27 | c.116 others(44): Show |
BNIP5 | ENSG00000189325.7 | transcript | ENST00000437635.3 | protein_coding | 6/11 | chr6 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32424729 | CTCTTCTT others(20): Show |
C | intron_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0413 | 1 | 422 | 0.0024 | -27 | c.121 others(46): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
BPTF_chr17_67820503_67989378 | 67879022 | ATGTCAGT others(20): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(124): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0003a0001c0005others(12): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0003others(14): Show | a0001c0001t0001g0260a0001c0003t0002g0087a0001c0003t0002g0088others(124): Show | 127 | 274 | 0.4635 | -27 | c.186 others(46): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
BRAF_chr7_140714337_140929929 | 140771716 | ATTGTCTA others(20): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG03942.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0030a0001c0001t0031 | a0001c0001t0004g0159a0001c0001t0004g0161a0001c0001t0004g0164others(8): Show | 11 | 190 | 0.0579 | -27 | c.181 others(46): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 14/19 | chr7 | TogoVar | ||||||
BRAF_chr7_140725665_140929929 | 140771716 | ATTGTCTA others(20): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG03942.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0034others(3): Show | a0001c0001t0004g0170a0001c0001t0004g0171a0001c0001t0004g0172others(8): Show | 11 | 196 | 0.0561 | -27 | c.169 others(46): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 13/17 | chr7 | TogoVar |