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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BFSP2_chr3_133395056_133480208 | 133446570 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG03139.hp2 NA18948.hp2 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 a0001c0001t0001g0182 a0001c0001t0001g0214 |
3 | 32 | 0.0938 | 8 | c.490 others(23): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BFSP2_chr3_133395056_133480208 | 133449982 | A | AAAGGAAG others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00639.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0020 a0001c0001t0001g0051 a0001c0001t0001g0144 others(44): Show |
47 | 114 | 0.4123 | 8 | c.730 others(23): Show |
BFSP2 | ENSG00000170819.5 | transcript | ENST00000302334.3 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
BHLHA9_chr17_1265444_1276815 | 1275841 | A | AGAGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG02055.hp2 HG02965.hp1 HG06807.hp1 others(1): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0006a0001c0005t0002 | a0001c0003t0006g0000 a0001c0005t0002g0000 |
4 | 440 | 0.0091 | 8 | c.*45 others(19): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 4027 | chr17 | TogoVar | |||||||
BHLHE40_chr3_4974437_4990323 | 4983829 | G | GGTGTGTG others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02040.hp1 NA19000.hp1 NA19091.hp2 |
a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0002 | 3 | 111 | 0.0270 | 8 | c.*15 others(17): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 5/5 | 164 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BHMT2_chr5_79064767_79095069 | 79087010 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG00609.hp2 HG06807.hp1 NA19083.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0217 a0001c0002t0002g0153 a0001c0002t0002g0154 |
3 | 345 | 0.0087 | 8 | c.101 others(27): Show |
BHMT2 | ENSG00000132840.10 | transcript | ENST00000255192.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BHMT2_chr5_79064767_79095069 | 79088358 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01993.hp2 others(10): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0003a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0003g0177 a0001c0002t0001g0112 a0001c0002t0001g0221 others(6): Show |
13 | 100 | 0.1300 | 8 | c.101 others(24): 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(1): Show |
intron_variant | MODIFIER | HG02027.hp1 HG02922.hp2 HG03130.hp2 others(1): Show |
a0002 | a0002c0002a0002c0003 | a0002c0002t0001a0002c0003t0009a0002c0003t0016 | a0002c0002t0001g0103 a0002c0003t0009g0120 a0002c0003t0016g0050 others(1): Show |
4 | 20 | 0.2000 | 8 | c.191 others(27): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | chr10 | TogoVar | |||||||
BICC1_chr10_58507872_58836435 | 58607317 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01167.hp1 HG02976.hp1 NA18906.hp2 |
a0002a0003 | a0002c0002a0002c0008a0003c0004 | a0002c0002t0009a0002c0008t0044a0003c0004t0046 | a0002c0002t0009g0118 a0002c0008t0044g0117 a0003c0004t0046g0119 |
3 | 24 | 0.1250 | 8 | c.191 others(27): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICC1_chr10_58507872_58836435 | 58718742 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01109.hp1 HG01928.hp1 others(8): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0002a0001c0001t0023a0001c0001t0037others(7): Show | a0001c0001t0002g0011 a0001c0001t0002g0013 a0001c0001t0023g0057 others(8): Show |
11 | 57 | 0.1930 | 8 | c.307 others(27): Show |
BICC1 | ENSG00000122870.12 | transcript | ENST00000373886.8 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32105400 | C | CTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG00639.hp1 HG01169.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0004g0130 a0001c0001t0004g0151 a0001c0001t0006g0150 others(15): Show |
18 | 67 | 0.2687 | 8 | c.-19 others(19): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1446 | chr12 | TogoVar | |||||||
BICD1_chr12_32101847_32388633 | 32106888 | G | GGAGCGAG others(1): Show |
5_prime_UTR_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(106): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(21): Show | a0001c0001t0004g0019 a0001c0001t0004g0032 a0001c0001t0004g0113 others(106): Show |
109 | 288 | 0.3785 | 8 | c.-43 others(17): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/10 | 428 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32142453 | C | CCTATCTA others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02451.hp1 HG02451.hp2 others(5): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0004a0001c0001t0009a0001c0001t0010others(4): Show | a0001c0001t0004g0149 a0001c0001t0009g0086 a0001c0001t0010g0156 others(5): Show |
8 | 138 | 0.0580 | 8 | c.213 others(27): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32146809 | T | TCCTCCCT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp2 others(57): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0174 a0001c0001t0001g0194 a0001c0001t0001g0255 others(57): Show |
60 | 93 | 0.6452 | 8 | c.213 others(27): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32148142 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp2 HG01192.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0004g0151 a0001c0001t0004g0287 a0001c0001t0006g0150 others(11): Show |
14 | 17 | 0.8235 | 8 | c.213 others(27): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32168007 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0199 a0001c0001t0001g0203 a0001c0001t0003g0202 others(38): Show |
41 | 97 | 0.4227 | 8 | c.214 others(27): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32192430 | T | TTAAATAA others(1): Show |
intron_variant | MODIFIER | HG02004.hp2 HG02723.hp1 HG02818.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0034others(3): Show | a0001c0001t0001g0190 a0001c0001t0003g0189 a0001c0001t0034g0133 others(3): Show |
6 | 205 | 0.0293 | 8 | c.214 others(27): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32192453 | A | AATAGATA others(1): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01496.hp1 HG01496.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0012a0001c0001t0059others(1): Show | a0001c0001t0003g0204 a0001c0001t0012g0233 a0001c0001t0059g0215 others(1): Show |
4 | 197 | 0.0203 | 8 | c.214 others(27): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32198330 | C | CTATATAT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01934.hp1 HG03834.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0011a0001c0001t0017a0001c0002t0002others(1): Show | a0001c0001t0011g0264 a0001c0001t0017g0095 a0001c0002t0002g0253 others(1): Show |
4 | 42 | 0.0952 | 8 | c.214 others(27): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32225621 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp1 HG01261.hp2 HG01346.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0004a0001c0001t0008a0001c0001t0024others(4): Show | a0001c0001t0004g0019 a0001c0001t0008g0124 a0001c0001t0024g0209 others(4): Show |
7 | 17 | 0.4118 | 8 | c.426 others(25): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32243264 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp2 HG00741.hp1 others(46): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(18): Show | a0001c0001t0001g0174 a0001c0001t0001g0281 a0001c0001t0001g0289 others(46): Show |
49 | 138 | 0.3551 | 8 | c.426 others(27): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32278864 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG01496.hp1 HG02027.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(8): Show | a0001c0001t0001g0089 a0001c0001t0003g0085 a0001c0001t0009g0076 others(11): Show |
14 | 136 | 0.1029 | 8 | c.427 others(27): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32280098 | C | CTAAATAA others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00558.hp1 others(52): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(22): Show | a0001c0001t0001g0038 a0001c0001t0001g0058 a0001c0001t0001g0182 others(52): Show |
55 | 168 | 0.3274 | 8 | c.427 others(27): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32348723 | A | AATATATA others(1): Show |
intron_variant | MODIFIER | HG02040.hp1 NA18612.hp2 NA18981.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0046 | a0001c0002t0001g0193 a0001c0002t0001g0231 a0001c0002t0001g0238 others(2): Show |
5 | 10 | 0.5000 | 8 | c.276 others(27): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32384652 | T | TTCTTCTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01069.hp1 HG01109.hp1 others(30): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0003a0001c0001t0007a0001c0001t0034others(6): Show | a0001c0001t0003g0070 a0001c0001t0003g0148 a0001c0001t0003g0177 others(30): Show |
33 | 287 | 0.1150 | 8 | c.*70 others(19): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1020 | chr12 | TogoVar | |||||||
BICDL1_chr12_119984236_120099494 | 120013439 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01175.hp1 HG02074.hp2 HG02258.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0039 a0001c0001t0001g0044 a0001c0001t0002g0139 others(9): Show |
12 | 55 | 0.2182 | 8 | c.645 others(27): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICDL1_chr12_119984236_120099494 | 120033367 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00609.hp1 NA18612.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016 | a0001c0001t0003g0260 a0001c0001t0003g0261 a0001c0001t0003g0262 others(7): Show |
10 | 118 | 0.0847 | 8 | c.646 others(27): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICDL1_chr12_119984236_120099494 | 120040751 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00735.hp2 HG01081.hp2 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(2): Show | a0001c0001t0001g0125 a0001c0001t0001g0126 a0001c0001t0001g0127 others(36): Show |
39 | 158 | 0.2468 | 8 | c.646 others(27): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICDL2_chr16_3022682_3041944 | 3034658 | C | CTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01123.hp1 HG01257.hp2 others(27): Show |
a0001a0003a0006others(1): Show | a0001c0001a0003c0003a0006c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0091 a0001c0001t0002g0123 a0001c0001t0003g0085 others(9): Show |
30 | 191 | 0.1571 | 8 | c.282 others(23): Show |
BICDL2 | ENSG00000162069.16 | transcript | ENST00000572449.6 | protein_coding | 2/9 | chr16 | TogoVar | |||||||
BICRAL_chr6_42777052_42873556 | 42793296 | A | ATTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp2 HG00621.hp2 others(41): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0047 a0001c0001t0001g0051 a0001c0001t0001g0054 others(41): Show |
44 | 78 | 0.5641 | 8 | c.-10 others(29): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42814479 | A | ATGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02559.hp2 HG02976.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0014 a0001c0001t0002g0251 a0001c0001t0004g0250 |
3 | 251 | 0.0120 | 8 | c.-6+ others(23): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42846391 | T | TTAAATAA others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG02109.hp2 HG02280.hp1 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0019 a0001c0001t0001g0020 a0001c0001t0001g0021 others(21): Show |
24 | 223 | 0.1076 | 8 | c.184 others(27): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42857614 | A | AAAAAATA others(1): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01255.hp2 HG02055.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0003 | a0001c0001t0003g0072 a0001c0001t0003g0095 a0001c0001t0003g0137 others(6): Show |
9 | 189 | 0.0476 | 8 | c.225 others(25): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47656069 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00733.hp2 HG01069.hp2 others(16): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0002c0005others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(7): Show | a0001c0001t0001g0043 a0001c0001t0001g0048 a0001c0001t0001g0051 others(16): Show |
19 | 108 | 0.1759 | 8 | c.-10 others(29): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47672577 | G | GTGGATGG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(85): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0011a0001c0003t0003others(13): Show | a0001c0001t0001g0015 a0001c0001t0001g0043 a0001c0001t0001g0052 others(85): Show |
88 | 273 | 0.3223 | 8 | c.-5- others(21): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47674302 | A | ACAACCTG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(87): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0011a0001c0003t0003others(13): Show | a0001c0001t0001g0015 a0001c0001t0001g0043 a0001c0001t0001g0052 others(87): Show |
90 | 310 | 0.2903 | 8 | c.84+ others(21): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 4/14 | chr19 | TogoVar | |||||||
BICRA_chr19_47604134_47708277 | 47685786 | T | TGTGTGCG others(1): Show |
intron_variant | MODIFIER | HG02135.hp1 HG02135.hp2 HG02148.hp2 others(3): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0002c0019others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0019t0001others(1): Show | a0001c0001t0001g0022 a0001c0001t0001g0075 a0002c0002t0002g0106 others(3): Show |
6 | 135 | 0.0444 | 8 | c.228 others(27): 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(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG01243.hp1 HG01258.hp2 others(16): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0035 | a0001c0001t0001a0001c0001t0007a0002c0002t0001others(2): Show | a0001c0001t0001g0059 a0001c0001t0001g0076 a0001c0001t0001g0080 others(16): Show |
19 | 148 | 0.1284 | 8 | c.228 others(27): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BID_chr22_17729138_17779469 | 17769042 | A | AAAATAAA others(1): Show |
intron_variant | MODIFIER | HG01192.hp2 HG01261.hp1 HG01346.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002 | a0001c0001t0001g0122 a0001c0001t0001g0131 a0001c0001t0001g0132 others(13): Show |
16 | 204 | 0.0784 | 8 | c.-59 others(25): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 1/5 | chr22 | TogoVar | |||||||
BIN1_chr2_127043032_127112154 | 127069731 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02109.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0007 | a0001c0001t0001g0099 a0001c0001t0001g0147 a0001c0001t0001g0239 others(13): Show |
17 | 164 | 0.1037 | 8 | c.411 others(23): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 5/18 | chr2 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51313184 | G | GAGGAAGG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00408.hp1 others(111): Show |
a0001a0002a0003 | a0001c0001a0001c0004a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(4): Show | a0001c0001t0001g0011 a0001c0001t0001g0031 a0001c0001t0001g0033 others(101): Show |
114 | 311 | 0.3666 | 8 | c.162 others(23): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 2/12 | chr12 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51313228 | A | AAGGCAGG others(1): Show |
intron_variant | MODIFIER | HG01433.hp2 HG01496.hp1 HG01978.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0023 a0001c0001t0001g0257 a0001c0001t0006g0260 |
4 | 305 | 0.0131 | 8 | c.162 others(23): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 2/12 | chr12 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51320934 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00609.hp1 HG02145.hp2 HG02451.hp2 others(18): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0011others(2): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0263 a0001c0001t0001g0316 a0002c0002t0001g0003 others(14): Show |
21 | 204 | 0.1029 | 8 | c.81+ others(23): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 1/12 | chr12 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22648894 | C | CGTATGTA others(1): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01109.hp1 HG01952.hp2 others(33): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0044 a0001c0001t0001g0222 a0001c0001t0001g0225 others(31): Show |
36 | 77 | 0.4675 | 8 | c.9-4 others(21): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22649850 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp2 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0001 | a0001c0001t0002g0001 a0001c0001t0002g0003 a0001c0001t0002g0004 others(15): Show |
19 | 165 | 0.1152 | 8 | c.9-5 others(21): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102342308 | A | ATATGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG00140.hp2 HG01169.hp1 HG01978.hp2 others(9): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0012 others(9): Show |
12 | 244 | 0.0492 | 8 | c.-63 others(19): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4905 | chr11 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102342340 | G | GTGTATTT others(1): Show |
upstream_gene_variant | MODIFIER | HG02258.hp2 HG03453.hp1 NA18955.hp2 others(7): Show |
a0001a0005 | a0001c0001a0005c0006 | a0001c0001t0001a0005c0006t0001 | a0001c0001t0001g0002 a0001c0001t0001g0057 a0001c0001t0001g0101 others(6): Show |
10 | 261 | 0.0383 | 8 | c.-62 others(19): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4873 | chr11 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102342344 | G | GTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00438.hp2 others(25): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(23): Show |
28 | 89 | 0.3146 | 8 | c.-62 others(19): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4869 | chr11 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102364139 | T | TTATATAT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG01123.hp2 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0030 a0001c0001t0001g0067 others(20): Show |
23 | 251 | 0.0916 | 8 | c.112 others(25): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102364174 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00609.hp1 HG00735.hp2 others(19): Show |
a0001a0004 | a0001c0001a0001c0010a0004c0005 | a0001c0001t0001a0001c0001t0004a0001c0010t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0008 a0001c0001t0001g0012 others(14): Show |
22 | 254 | 0.0866 | 8 | c.112 others(25): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102365743 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01255.hp1 HG02698.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008 | a0001c0001t0002g0250 a0001c0001t0002g0251 a0001c0001t0002g0252 others(2): Show |
5 | 265 | 0.0189 | 8 | c.112 others(27): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |