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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BCORL1_chrX_129977635_130063071 | 130043746 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0112 | 1 | 148 | 0.0068 | 18 | c.484 others(37): Show |
BCORL1 | ENSG00000085185.16 | transcript | ENST00000540052.6 | protein_coding | 11/13 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
BCOR_chrX_40046251_40102958 | 40046552 | A | ATATATAT others(11): Show |
downstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 238 | 0.0042 | 18 | c.*55 others(29): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 4698 | chrX | TogoVar | |||||||
BCOR_chrX_40046251_40102958 | 40056281 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0234 | 1 | 127 | 0.0079 | 18 | c.459 others(35): Show |
BCOR | ENSG00000183337.18 | transcript | ENST00000378444.9 | protein_coding | 11/14 | chrX | TogoVar | |||||||
BDH1_chr3_197504783_197560968 | 197510599 | G | GGGGTGTG others(11): Show |
3_prime_UTR_variant | MODIFIER | HG02074.hp2 HG02083.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 a0001c0001t0001g0243 |
2 | 182 | 0.0110 | 18 | c.*12 others(29): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1295 | chr3 | TogoVar | ||||||
BDH1_chr3_197504783_197560968 | 197510599 | G | GGTGTGTG others(11): Show |
3_prime_UTR_variant | MODIFIER | HG00438.hp2 HG01069.hp1 HG01884.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0001a0001c0002t0003a0001c0010t0001 | a0001c0001t0001g0178 a0001c0001t0001g0185 a0001c0001t0001g0190 others(2): Show |
5 | 185 | 0.0270 | 18 | c.*12 others(29): Show |
BDH1 | ENSG00000161267.12 | transcript | ENST00000392379.6 | protein_coding | 8/8 | 1295 | chr3 | TogoVar | ||||||
BDH2_chr4_103072592_103104834 | 103102328 | C | CATATATA others(11): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 HG02886.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0017 | a0001c0001t0006g0021 a0001c0001t0017g0109 |
3 | 309 | 0.0097 | 18 | c.-25 others(29): Show |
BDH2 | ENSG00000164039.15 | transcript | ENST00000296424.9 | protein_coding | 2495 | chr4 | TogoVar | |||||||
BDP1_chr5_71450651_71572820 | 71506786 | A | AACACACA others(11): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0004 | a0004c0004 | a0004c0004t0004 | a0004c0004t0004g0318 | 1 | 170 | 0.0059 | 18 | c.237 others(37): Show |
BDP1 | ENSG00000145734.20 | transcript | ENST00000358731.9 | protein_coding | 16/38 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BEST3_chr12_69648609_69704303 | 69680310 | C | CTTCTTTT others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00733.hp2 others(56): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0006a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0199 a0001c0001t0001g0200 a0001c0001t0001g0219 others(48): Show |
59 | 189 | 0.3122 | 18 | c.482 others(35): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BEST3_chr12_69648609_69704303 | 69685029 | C | CTATTCTA others(11): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0193 | 1 | 360 | 0.0028 | 18 | c.482 others(35): Show |
BEST3 | ENSG00000127325.19 | transcript | ENST00000330891.10 | protein_coding | 4/9 | chr12 | TogoVar | |||||||
BEX1_chrX_103057651_103069171 | 103060016 | C | CTCTCTCT others(11): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 240 | 0.0042 | 18 | c.*28 others(29): Show |
BEX1 | ENSG00000133169.6 | transcript | ENST00000372728.4 | protein_coding | 2634 | chrX | TogoVar | |||||||
BFSP2_chr3_133395056_133480208 | 133425807 | G | GGAAGGGA others(11): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01069.hp2 HG01071.hp2 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0002t0001a0002c0003t0001 | a0001c0001t0001g0007 a0001c0001t0001g0009 a0001c0001t0001g0010 others(42): Show |
46 | 267 | 0.1723 | 18 | c.490 others(37): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133446570 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02145.hp1 NA19060.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 a0001c0001t0001g0164 |
2 | 31 | 0.0645 | 18 | c.490 others(33): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133466677 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 42 | 0.0238 | 18 | c.892 others(33): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BHMT2_chr5_79064767_79095069 | 79087010 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0216 | 1 | 343 | 0.0029 | 18 | c.101 others(37): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT2_chr5_79064767_79095069 | 79087014 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0183 | 1 | 59 | 0.0169 | 18 | c.101 others(37): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58601140 | T | TAATATAT others(11): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01928.hp1 HG01981.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003 | a0001c0001t0001a0001c0001t0007a0001c0001t0050others(4): Show | a0001c0001t0001g0074 a0001c0001t0001g0081 a0001c0001t0001g0087 others(7): Show |
10 | 26 | 0.3846 | 18 | c.191 others(37): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | chr10 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58601140 | T | TTATATAT others(11): Show |
intron_variant | MODIFIER | HG02572.hp2 NA21309.hp2 |
a0002 | a0002c0003 | a0002c0003t0015a0002c0003t0025 | a0002c0003t0015g0010 a0002c0003t0025g0037 |
2 | 18 | 0.1111 | 18 | c.191 others(37): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58769400 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG02155.hp2 NA18747.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0008 | a0001c0001t0001g0109 a0002c0002t0008g0025 |
2 | 109 | 0.0183 | 18 | c.308 others(37): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58769402 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01255.hp1 HG02027.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0068 a0001c0001t0002g0003 a0001c0001t0006g0105 others(3): Show |
6 | 88 | 0.0682 | 18 | c.308 others(37): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58769404 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00621.hp2 HG01255.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0007a0001c0001t0026a0002c0002t0008 | a0001c0001t0007g0071 a0001c0001t0026g0032 a0002c0002t0008g0041 others(1): Show |
4 | 65 | 0.0615 | 18 | c.308 others(37): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32117695 | T | TACACAAA others(11): Show |
intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00642.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0008a0001c0001t0010others(3): Show | a0001c0001t0007g0109 a0001c0001t0007g0128 a0001c0001t0008g0108 others(9): Show |
12 | 251 | 0.0478 | 18 | c.213 others(37): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32117711 | T | TACACACA others(11): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0091 | 1 | 131 | 0.0076 | 18 | c.213 others(37): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32135061 | C | CCTCCCCT others(11): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00609.hp2 others(74): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0174 a0001c0001t0001g0199 a0001c0001t0001g0203 others(74): Show |
77 | 288 | 0.2674 | 18 | c.213 others(37): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32198323 | C | CATATATA others(11): Show |
intron_variant | MODIFIER | HG01069.hp1 HG02809.hp1 HG03453.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0015a0001c0002t0002others(3): Show | a0001c0001t0003g0268 a0001c0001t0015g0042 a0001c0002t0002g0276 others(3): Show |
6 | 130 | 0.0462 | 18 | c.214 others(37): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32243264 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0003 | a0001c0003t0013 | a0001c0003t0013g0192 | 1 | 90 | 0.0111 | 18 | c.426 others(37): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32346560 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG01192.hp1 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0024 | a0001c0001t0004g0136 a0001c0001t0024g0209 |
2 | 262 | 0.0076 | 18 | c.276 others(37): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32348723 | A | AATATATA others(11): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0016 | 1 | 6 | 0.1667 | 18 | c.276 others(37): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32384588 | G | GTCTTCCT others(11): Show |
downstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0184 | 1 | 107 | 0.0093 | 18 | c.*69 others(29): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 956 | chr12 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32384588 | G | GTCTTCCT others(11): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 HG02486.hp2 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0036 | a0001c0001t0010g0125 a0001c0001t0010g0131 a0001c0001t0036g0092 |
3 | 109 | 0.0275 | 18 | c.*69 others(29): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 956 | chr12 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32384588 | G | GTCTTCTT others(11): Show |
downstream_gene_variant | MODIFIER | HG00438.hp1 HG00642.hp1 HG00741.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(9): Show | a0001c0001t0001g0174 a0001c0001t0001g0283 a0001c0001t0004g0032 others(14): Show |
17 | 123 | 0.1382 | 18 | c.*69 others(29): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 956 | chr12 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32384599 | C | CTTCTTCT others(11): Show |
downstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0172 | 1 | 288 | 0.0035 | 18 | c.*69 others(29): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 967 | chr12 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32384602 | C | CTTCTTCT others(11): Show |
downstream_gene_variant | MODIFIER | HG02486.hp1 | a0001 | a0001c0002 | a0001c0002t0040 | a0001c0002t0040g0090 | 1 | 287 | 0.0035 | 18 | c.*69 others(29): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 970 | chr12 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32384717 | C | CTTCTTCC others(11): Show |
downstream_gene_variant | MODIFIER | HG01346.hp1 HG03492.hp2 HG03540.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0013a0001c0003t0013a0001c0003t0042others(2): Show | a0001c0001t0013g0277 a0001c0003t0013g0062 a0001c0003t0013g0192 others(4): Show |
7 | 224 | 0.0313 | 18 | c.*70 others(29): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1085 | chr12 | TogoVar | |||||||
BICD2_chr9_92706363_92769833 | 92764801 | A | AGCCGCCG others(11): Show |
5_prime_UTR_variant | MODIFIER | HG03927.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0037 | 1 | 237 | 0.0042 | 18 | c.-58 others(25): Show |
BICD2 | ENSG00000185963.14 | transcript | ENST00000356884.11 | protein_coding | 1/7 | 58 | chr9 | TogoVar | ||||||
BICDL1_chr12_119984236_120099494 | 120033367 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02145.hp2 HG06807.hp1 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0004 | a0001c0001t0001g0128 a0001c0002t0004g0232 a0001c0002t0004g0246 |
3 | 111 | 0.0270 | 18 | c.646 others(37): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICDL1_chr12_119984236_120099494 | 120045914 | T | TATAATAA others(11): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0289 | 1 | 294 | 0.0034 | 18 | c.646 others(37): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICDL1_chr12_119984236_120099494 | 120045917 | T | TATAATAA others(11): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01175.hp2 others(35): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(4): Show | a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 others(34): Show |
38 | 173 | 0.2197 | 18 | c.646 others(37): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICDL2_chr16_3022682_3041944 | 3034693 | C | CTTCCTTC others(11): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0026 | 1 | 383 | 0.0026 | 18 | c.282 others(33): Show |
BICDL2 | ENSG00000162069.16 | transcript | ENST00000572449.6 | protein_coding | 2/9 | chr16 | TogoVar | |||||||
BICRAL_chr6_42777052_42873556 | 42814499 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | NA18940.hp2 NA18974.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0046 a0001c0001t0002g0057 a0001c0001t0004g0131 |
3 | 209 | 0.0144 | 18 | c.-6+ others(33): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42814499 | G | GTGTGTAT others(11): Show |
intron_variant | MODIFIER | HG02015.hp1 NA18612.hp1 NA19004.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 a0001c0001t0001g0047 a0001c0001t0001g0048 others(2): Show |
5 | 211 | 0.0237 | 18 | c.-6+ others(33): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42814499 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG02622.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0008 a0001c0001t0006g0007 |
2 | 208 | 0.0096 | 18 | c.-6+ others(33): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42857614 | A | AAAAAATA others(11): Show |
intron_variant | MODIFIER | HG03195.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 a0001c0001t0001g0152 |
2 | 182 | 0.0110 | 18 | c.225 others(35): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47638613 | T | TCTCTCTC others(11): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273 | 1 | 112 | 0.0089 | 18 | c.-10 others(39): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47685786 | T | TGCGCGCG others(11): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 130 | 0.0077 | 18 | c.228 others(37): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47685786 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0011 | 1 | 130 | 0.0077 | 18 | c.228 others(37): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47685786 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA19080.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0266 | 1 | 130 | 0.0077 | 18 | c.228 others(37): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47685786 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0306 | 1 | 130 | 0.0077 | 18 | c.228 others(37): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47685786 | T | TGTGTGTG others(11): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02630.hp1 NA18991.hp1 |
a0001a0002 | a0001c0008a0001c0028a0002c0002 | a0001c0008t0006a0001c0028t0003a0002c0002t0002 | a0001c0008t0006g0238 a0001c0028t0003g0006 a0002c0002t0002g0135 |
3 | 132 | 0.0227 | 18 | c.228 others(37): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47685787 | G | GTGCGCGC others(11): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 | 1 | 310 | 0.0032 | 18 | c.228 others(37): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | chr19 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127104521 | C | CCCAGCAC others(11): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0256 | 1 | 342 | 0.0029 | 18 | c.84+ others(33): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/18 | chr2 | TogoVar |