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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BLTP3A_chr6_34787083_34882514 | 34833920 | C | CAAA | intron_variant | MODIFIER | HG01891.hp2 HG02083.hp2 HG02602.hp1 others(10): Show |
a0004a0026 | a0004c0004a0004c0014a0004c0025others(1): Show | a0004c0004t0005a0004c0004t0018a0004c0004t0033others(4): Show | a0004c0004t0005g0007 a0004c0004t0005g0012 a0004c0004t0005g0017 others(10): Show |
13 | 312 | 0.0417 | 3 | c.339 others(18): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34840391 | T | TAAA | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00673.hp1 others(57): Show |
a0003a0005a0006others(4): Show | a0003c0003a0003c0023a0003c0029others(6): Show | a0003c0003t0003a0003c0003t0009a0003c0003t0011others(17): Show | a0003c0003t0003g0004 a0003c0003t0003g0102 a0003c0003t0003g0104 others(57): Show |
60 | 312 | 0.1923 | 3 | c.103 others(22): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34864522 | C | CTTT | intron_variant | MODIFIER | HG02717.hp1 HG02970.hp1 HG03139.hp1 others(3): Show |
a0008a0010 | a0008c0009a0010c0011 | a0008c0009t0014a0010c0011t0022a0010c0011t0039 | a0008c0009t0014g0167 a0008c0009t0014g0168 a0008c0009t0014g0169 others(3): Show |
6 | 312 | 0.0192 | 3 | c.341 others(20): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 15/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34869640 | C | CTTT | intron_variant | MODIFIER | HG00738.hp1 HG01109.hp2 HG01255.hp1 others(4): Show |
a0003a0004a0009others(2): Show | a0003c0003a0004c0014a0004c0015others(3): Show | a0003c0003t0043a0004c0014t0011a0004c0015t0011others(4): Show | a0003c0003t0043g0138 a0004c0014t0011g0043 a0004c0015t0011g0162 others(4): Show |
7 | 312 | 0.0224 | 3 | c.371 others(22): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34876029 | T | TATA | 3_prime_UTR_variant | MODIFIER | HG02818.hp1 HG02895.hp2 HG02897.hp1 others(1): Show |
a0001a0019 | a0001c0001a0019c0024 | a0001c0001t0015a0019c0024t0015 | a0001c0001t0015g0272 a0001c0001t0015g0273 a0001c0001t0015g0275 others(1): Show |
4 | 312 | 0.0128 | 3 | c.*35 others(14): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 21/21 | 3594 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34877986 | C | CTAA | downstream_gene_variant | MODIFIER | HG02572.hp1 HG02630.hp2 HG02809.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0002 a0001c0001t0006g0176 a0001c0001t0006g0177 others(2): Show |
6 | 312 | 0.0192 | 3 | c.*55 others(14): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 473 | chr6 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100041429 | C | CTTT | intron_variant | MODIFIER | HG01243.hp1 HG01891.hp2 HG02056.hp2 others(4): Show |
a0001a0007a0017 | a0001c0001a0007c0008a0017c0030 | a0001c0001t0001a0007c0008t0001a0017c0030t0001 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0102 others(4): Show |
7 | 188 | 0.0372 | 3 | c.408 others(22): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 19/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100052790 | G | GTTT | intron_variant | MODIFIER | HG01243.hp1 HG02145.hp2 HG02451.hp1 others(3): Show |
a0002a0003a0007 | a0002c0003a0003c0002a0007c0008 | a0002c0003t0001a0003c0002t0001a0007c0008t0001 | a0002c0003t0001g0007 a0002c0003t0001g0018 a0003c0002t0001g0035 others(3): Show |
6 | 188 | 0.0319 | 3 | c.342 others(22): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 15/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100087158 | C | CAAA | intron_variant | MODIFIER | HG00544.hp1 HG01167.hp2 HG01243.hp1 others(10): Show |
a0001a0002a0004others(4): Show | a0001c0001a0001c0025a0002c0003others(5): Show | a0001c0001t0001a0001c0025t0001a0002c0003t0001others(5): Show | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0091 others(10): Show |
13 | 188 | 0.0692 | 3 | c.102 others(20): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 8/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100087158 | C | CAGA | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01255.hp2 others(10): Show |
a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0034 a0003c0002t0001g0035 a0003c0002t0001g0036 others(10): Show |
13 | 188 | 0.0692 | 3 | c.102 others(20): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 8/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100110372 | G | GCTT | intron_variant | MODIFIER | HG00544.hp1 HG02056.hp2 NA18942.hp2 others(2): Show |
a0001a0012 | a0001c0001a0012c0028 | a0001c0001t0001a0012c0028t0001 | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 others(2): Show |
5 | 188 | 0.0266 | 3 | c.45- others(18): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100110445 | A | AAAC | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG02622.hp1 others(4): Show |
a0009a0010a0011others(1): Show | a0009c0011a0010c0013a0011c0021others(2): Show | a0009c0011t0001a0010c0013t0001a0011c0021t0001others(2): Show | a0009c0011t0001g0004 a0009c0011t0001g0005 a0010c0013t0001g0001 others(4): Show |
7 | 188 | 0.0372 | 3 | c.45- others(18): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100116169 | C | CAAA | intron_variant | MODIFIER | HG00544.hp1 HG01167.hp2 HG01243.hp1 others(9): Show |
a0001a0007a0009others(3): Show | a0001c0001a0007c0008a0009c0011others(3): Show | a0001c0001t0001a0007c0008t0001a0009c0011t0001others(3): Show | a0001c0001t0001g0088 a0001c0001t0001g0089 a0001c0001t0001g0090 others(9): Show |
12 | 188 | 0.0638 | 3 | c.45- others(18): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100125335 | C | CAAA | intron_variant | MODIFIER | HG00544.hp1 NA18942.hp2 NA18960.hp1 others(2): Show |
a0001a0003a0012 | a0001c0001a0003c0002a0012c0028 | a0001c0001t0001a0003c0002t0001a0012c0028t0001 | a0001c0001t0001g0088 a0001c0001t0001g0090 a0001c0001t0001g0091 others(2): Show |
5 | 188 | 0.0266 | 3 | c.45- others(20): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100140704 | C | CAAA | intron_variant | MODIFIER | HG00673.hp1 HG01069.hp2 HG02015.hp1 others(7): Show |
a0001a0002a0019 | a0001c0001a0002c0003a0019c0016 | a0001c0001t0001a0002c0003t0001a0019c0016t0001 | a0001c0001t0001g0065 a0001c0001t0001g0066 a0001c0001t0001g0067 others(7): Show |
10 | 188 | 0.0532 | 3 | c.44+ others(18): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100140729 | A | ATAT | intron_variant | MODIFIER | HG01192.hp2 HG03209.hp2 HG03579.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0111 a0001c0001t0001g0112 a0002c0003t0001g0021 others(1): Show |
4 | 188 | 0.0213 | 3 | c.44+ others(18): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | |||||||
BLVRA_chr7_43753680_43812342 | 43759988 | A | ATTT | intron_variant | MODIFIER | HG00741.hp2 HG02055.hp2 HG02080.hp2 others(10): Show |
a0001 | a0001c0002a0001c0004a0001c0005 | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(1): Show | a0001c0002t0001g0198 a0001c0002t0001g0199 a0001c0002t0001g0200 others(10): Show |
13 | 414 | 0.0314 | 3 | c.-22 others(20): Show |
BLVRA | ENSG00000106605.11 | transcript | ENST00000265523.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BLVRA_chr7_43753680_43812342 | 43764808 | T | TATC | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00642.hp2 others(20): Show |
a0001a0005 | a0001c0002a0001c0005a0005c0010 | a0001c0002t0001a0001c0005t0001a0005c0010t0001 | a0001c0002t0001g0013 a0001c0002t0001g0030 a0001c0002t0001g0035 others(14): Show |
23 | 414 | 0.0556 | 3 | c.-22 others(20): Show |
BLVRA | ENSG00000106605.11 | transcript | ENST00000265523.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BLVRA_chr7_43753680_43812342 | 43798197 | C | CAAA | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp1 HG00423.hp2 others(54): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0002 a0001c0001t0001g0018 a0001c0001t0001g0047 others(45): Show |
57 | 414 | 0.1377 | 3 | c.353 others(20): Show |
BLVRA | ENSG00000106605.11 | transcript | ENST00000265523.9 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BLVRA_chr7_43753680_43812342 | 43807500 | C | CTTT | downstream_gene_variant | MODIFIER | HG02074.hp1 HG02148.hp2 HG02717.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(2): Show | a0001c0001t0001g0160 a0001c0002t0001g0300 a0001c0002t0002g0009 others(9): Show |
12 | 414 | 0.0290 | 3 | c.*26 others(12): Show |
BLVRA | ENSG00000106605.11 | transcript | ENST00000265523.9 | protein_coding | 159 | chr7 | TogoVar | |||||||
BLVRB_chr19_40442768_40470745 | 40447050 | G | GTTA | downstream_gene_variant | MODIFIER | NA18973.hp1 NA18973.hp2 NA18984.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0199 a0001c0001t0001g0200 others(1): Show |
4 | 362 | 0.0111 | 3 | c.*83 others(12): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 717 | chr19 | TogoVar | |||||||
BLVRB_chr19_40442768_40470745 | 40450197 | C | CAAA | intron_variant | MODIFIER | HG00741.hp2 HG01071.hp2 HG01123.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0025 a0001c0001t0001g0028 a0001c0001t0001g0029 others(17): Show |
20 | 362 | 0.0553 | 3 | c.463 others(20): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 4/4 | chr19 | TogoVar | |||||||
BLVRB_chr19_40442768_40470745 | 40459327 | C | CAAA | intron_variant | MODIFIER | HG01243.hp2 HG01261.hp1 HG01261.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 a0001c0001t0001g0036 a0001c0001t0001g0044 others(10): Show |
13 | 362 | 0.0359 | 3 | c.80- others(16): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 1/4 | chr19 | TogoVar | |||||||
BLZF1_chr1_169363195_169393305 | 169368439 | A | ATTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(132): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0006 | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(3): Show | a0001c0001t0001g0003 a0001c0001t0001g0010 a0001c0001t0001g0015 others(51): Show |
135 | 366 | 0.3689 | 3 | c.-51 others(18): Show |
BLZF1 | ENSG00000117475.14 | transcript | ENST00000367808.8 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13288415 | T | TTTC | intron_variant | MODIFIER | HG00558.hp2 HG01261.hp2 HG02809.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0040 a0001c0001t0001g0096 a0001c0001t0001g0097 others(2): Show |
5 | 314 | 0.0159 | 3 | c.-26 others(24): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13290559 | A | ATAT | intron_variant | MODIFIER | HG02965.hp1 HG02976.hp2 HG03195.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 a0001c0001t0001g0123 a0001c0001t0001g0124 others(6): Show |
9 | 314 | 0.0287 | 3 | c.-26 others(24): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13290559 | A | ATGT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(58): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0021 a0001c0001t0001g0033 a0001c0001t0001g0048 others(58): Show |
61 | 314 | 0.1943 | 3 | c.-26 others(24): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13294407 | C | CAAT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(300): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(297): Show |
303 | 314 | 0.9650 | 3 | c.-26 others(24): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | chr11 | TogoVar | |||||||
BMAL1_chr11_13272790_13392266 | 13322778 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0008 | a0001c0001t0001a0001c0002t0001a0001c0008t0001 | a0001c0001t0001g0040 a0001c0001t0001g0067 a0001c0001t0001g0086 others(29): Show |
32 | 314 | 0.1019 | 3 | c.-18 others(22): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27328312 | C | CTTT | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp2 others(69): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0004 a0001c0001t0001g0029 a0001c0001t0001g0034 others(68): Show |
72 | 310 | 0.2323 | 3 | c.-47 others(14): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 4523 | chr12 | TogoVar | |||||||
BMAL2_chr12_27327836_27430286 | 27330760 | T | TTTG | upstream_gene_variant | MODIFIER | HG03017.hp1 HG03209.hp2 HG03834.hp1 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0001c0001t0044a0003c0003t0043 | a0001c0001t0002g0012 a0001c0001t0002g0014 a0001c0001t0044g0097 others(1): Show |
4 | 310 | 0.0129 | 3 | c.-23 others(14): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 2075 | chr12 | TogoVar | |||||||
BMAL2_chr12_27327836_27430286 | 27360051 | T | TAAA | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG03139.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0031 a0001c0001t0002g0041 a0001c0001t0004g0077 others(3): Show |
6 | 310 | 0.0194 | 3 | c.32- others(18): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27360803 | C | CAAA | intron_variant | MODIFIER | HG00609.hp1 HG01069.hp1 HG01071.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0018 a0001c0001t0001g0020 a0001c0001t0001g0240 others(11): Show |
15 | 310 | 0.0484 | 3 | c.32- others(18): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27372230 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00621.hp2 others(37): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0031 a0001c0001t0001g0032 a0001c0001t0001g0037 others(37): Show |
40 | 310 | 0.1290 | 3 | c.284 others(20): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27428818 | C | CTTT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00609.hp1 others(77): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(19): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0034 others(75): Show |
80 | 310 | 0.2581 | 3 | c.*82 others(14): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 3533 | chr12 | TogoVar | |||||||
BMERB1_chr16_15429588_15593259 | 15432286 | A | ATTT | upstream_gene_variant | MODIFIER | HG01243.hp1 HG01433.hp1 HG02615.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0279 a0001c0001t0002g0184 a0001c0001t0002g0190 others(7): Show |
10 | 291 | 0.0344 | 3 | c.-23 others(14): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2301 | chr16 | TogoVar | |||||||
BMERB1_chr16_15429588_15593259 | 15444123 | G | GTTT | intron_variant | MODIFIER | HG00280.hp2 HG01433.hp1 HG02273.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0257 a0001c0001t0001g0258 a0001c0001t0002g0072 others(6): Show |
9 | 291 | 0.0309 | 3 | c.106 others(20): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15461956 | A | ACAG | intron_variant | MODIFIER | HG02055.hp1 HG02818.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0010 | a0001c0001t0001g0015 a0001c0001t0003g0026 a0001c0001t0003g0027 others(2): Show |
5 | 291 | 0.0172 | 3 | c.106 others(22): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15465353 | A | ATAT | intron_variant | MODIFIER | HG01167.hp2 HG01433.hp2 HG01934.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0129 a0001c0001t0001g0132 a0001c0001t0001g0147 others(15): Show |
18 | 291 | 0.0619 | 3 | c.106 others(22): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15465354 | T | TATA | intron_variant | MODIFIER | HG01099.hp2 HG01168.hp1 HG01358.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0231 a0001c0001t0002g0046 a0001c0001t0002g0048 others(4): Show |
7 | 291 | 0.0241 | 3 | c.106 others(22): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | chr16 | TogoVar | |||||||
BMERB1_chr16_15429588_15593259 | 15468126 | T | TTTC | intron_variant | MODIFIER | HG00673.hp2 HG00738.hp1 HG00738.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0018 a0001c0001t0001g0244 a0001c0001t0001g0257 others(13): Show |
16 | 291 | 0.0550 | 3 | c.106 others(22): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15468162 | T | TTTC | intron_variant | MODIFIER | HG00639.hp1 HG01099.hp2 HG01358.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0001 | a0001c0001t0002g0046 a0001c0001t0002g0048 a0001c0001t0002g0053 others(5): Show |
8 | 291 | 0.0275 | 3 | c.106 others(22): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15512012 | C | CAAA | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp2 HG02486.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(2): Show | a0001c0001t0001g0031 a0001c0001t0001g0097 a0001c0001t0001g0174 others(6): Show |
9 | 291 | 0.0309 | 3 | c.107 others(20): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15526990 | T | TTTA | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(3): Show |
6 | 291 | 0.0206 | 3 | c.230 others(22): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15560952 | C | CTTT | intron_variant | MODIFIER | HG01069.hp2 HG02257.hp1 HG02735.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0016 | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0057 others(6): Show |
9 | 291 | 0.0309 | 3 | c.231 others(20): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15561256 | A | ATTT | intron_variant | MODIFIER | HG00609.hp2 HG00639.hp1 HG00642.hp1 others(36): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0018 a0001c0001t0001g0031 a0001c0001t0001g0281 others(36): Show |
39 | 291 | 0.1340 | 3 | c.231 others(20): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15567230 | A | AAAT | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00558.hp1 others(183): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0015 others(183): Show |
186 | 291 | 0.6392 | 3 | c.231 others(18): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15576729 | C | CTCT | intron_variant | MODIFIER | HG00323.hp2 HG01109.hp1 HG01261.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(4): Show | a0001c0001t0001g0255 a0001c0001t0005g0005 a0001c0001t0005g0011 others(32): Show |
35 | 291 | 0.1203 | 3 | c.305 others(20): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15580197 | A | AGAG | intron_variant | MODIFIER | HG01261.hp2 HG02257.hp1 HG02258.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(1): Show | a0001c0001t0001g0255 a0001c0001t0005g0005 a0001c0001t0005g0011 others(15): Show |
18 | 291 | 0.0619 | 3 | c.305 others(20): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15592898 | G | GCCC | downstream_gene_variant | MODIFIER | HG00280.hp2 HG01109.hp1 HG01496.hp1 others(13): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0059 a0001c0001t0001g0060 a0001c0001t0001g0112 others(13): Show |
16 | 291 | 0.0550 | 3 | c.*60 others(14): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 4640 | chr16 | TogoVar |