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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BIVM_chr13_102794119_102846533 | 102833327 | G | GTTT | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG01071.hp1 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0001g0016 a0001c0001t0001g0033 a0001c0001t0001g0066 others(18): Show |
24 | 404 | 0.0594 | 3 | c.103 others(22): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BLACAT1_chr1_205429886_205461045 | 205460852 | C | CAAA | upstream_gene_variant | MODIFIER | HG01243.hp1 HG02300.hp2 HG02615.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(5): Show | a0001c0001t0002g0169 a0001c0001t0003g0016 a0001c0001t0003g0087 others(7): Show |
13 | 394 | 0.0330 | 3 | c.-49 others(14): Show |
BLACAT1 | ENSG00000281406.2 | transcript | ENST00000629624.3 | protein_coding | 4808 | chr1 | TogoVar | |||||||
BLID_chr11_122110340_122121215 | 122119987 | T | TATC | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(403): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(2): Show |
406 | 434 | 0.9355 | 3 | c.-40 others(14): Show |
BLID | ENSG00000259571.2 | transcript | ENST00000560104.2 | protein_coding | 3773 | chr11 | TogoVar | |||||||
BLK_chr8_11489387_11569599 | 11533582 | C | CGGA | intron_variant | MODIFIER | HG00323.hp2 HG00733.hp1 HG00735.hp2 others(36): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(14): Show | a0001c0001t0001g0225 a0001c0001t0003g0002 a0001c0001t0003g0251 others(34): Show |
39 | 308 | 0.1266 | 3 | c.-1- others(18): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLMH_chr17_30243203_30296944 | 30260880 | T | TAAC | intron_variant | MODIFIER | HG02895.hp2 NA18906.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 a0001c0001t0001g0163 |
3 | 298 | 0.0101 | 3 | c.121 others(22): Show |
BLMH | ENSG00000108578.15 | transcript | ENST00000261714.11 | protein_coding | 11/11 | chr17 | TogoVar | |||||||
BLMH_chr17_30243203_30296944 | 30285899 | G | GACT | intron_variant | MODIFIER | HG01192.hp1 HG01346.hp2 HG02055.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0018 a0001c0001t0002g0062 a0001c0001t0002g0063 others(3): Show |
8 | 298 | 0.0269 | 3 | c.553 others(18): Show |
BLMH | ENSG00000108578.15 | transcript | ENST00000261714.11 | protein_coding | 5/11 | chr17 | TogoVar | |||||||
BLMH_chr17_30243203_30296944 | 30291954 | T | TCGG | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(97): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0006others(6): Show | a0001c0001t0001g0194 a0001c0001t0001g0206 a0001c0001t0001g0207 others(70): Show |
100 | 298 | 0.3356 | 3 | c.-13 others(12): Show |
BLMH | ENSG00000108578.15 | transcript | ENST00000261714.11 | protein_coding | 11 | chr17 | TogoVar | |||||||
BLM_chr15_90712346_90821166 | 90773095 | C | CAAA | intron_variant | MODIFIER | HG00597.hp1 HG00621.hp1 HG01175.hp1 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0002a0001c0002t0001a0001c0010t0001others(1): Show | a0001c0001t0002g0188 a0001c0002t0001g0094 a0001c0002t0001g0125 others(4): Show |
7 | 280 | 0.0250 | 3 | c.255 others(22): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90774066 | C | CTTT | intron_variant | MODIFIER | HG02055.hp1 HG02145.hp2 HG02258.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0055 a0001c0001t0001g0130 a0001c0001t0001g0229 others(5): Show |
8 | 280 | 0.0286 | 3 | c.255 others(22): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90789987 | G | GTTT | intron_variant | MODIFIER | HG00597.hp2 HG01109.hp1 HG01243.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0011a0004c0012 | a0001c0001t0001a0001c0001t0002a0001c0011t0001others(1): Show | a0001c0001t0001g0032 a0001c0001t0001g0158 a0001c0001t0002g0014 others(3): Show |
6 | 280 | 0.0214 | 3 | c.282 others(20): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90815041 | G | GGAA | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp1 HG00544.hp2 others(190): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0002a0001c0009others(17): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(25): Show | a0001c0001t0001g0002 a0001c0001t0001g0004 a0001c0001t0001g0005 others(189): Show |
193 | 280 | 0.6893 | 3 | c.407 others(18): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 21/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90821142 | C | CTTT | downstream_gene_variant | MODIFIER | HG01433.hp2 HG01891.hp1 HG02572.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0071 a0001c0001t0001g0274 a0001c0002t0001g0123 others(5): Show |
8 | 280 | 0.0286 | 3 | c.*58 others(14): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 4977 | chr15 | TogoVar | |||||||
BLNK_chr10_96184171_96276569 | 96189698 | A | AATC | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(95): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0008others(43): Show | a0001c0001t0003g0004 a0001c0001t0003g0008 a0001c0001t0003g0089 others(91): Show |
98 | 322 | 0.3044 | 3 | c.*22 others(14): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 17/17 | 2274 | chr10 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96191235 | C | CTTT | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00280.hp2 HG00438.hp2 others(59): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0002a0001c0001t0008a0001c0001t0012others(18): Show | a0001c0001t0002g0002 a0001c0001t0002g0060 a0001c0001t0002g0083 others(56): Show |
62 | 322 | 0.1926 | 3 | c.*73 others(12): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 17/17 | 737 | chr10 | TogoVar | ||||||
BLNK_chr10_96184171_96276569 | 96194768 | A | ATTT | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG00609.hp1 others(27): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0002a0001c0001t0017a0001c0002t0001others(2): Show | a0001c0001t0002g0060 a0001c0001t0002g0083 a0001c0001t0002g0086 others(27): Show |
30 | 322 | 0.0932 | 3 | c.125 others(22): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 16/16 | chr10 | TogoVar | |||||||
BLNK_chr10_96184171_96276569 | 96210863 | G | GTTT | intron_variant | MODIFIER | HG02258.hp2 HG02559.hp2 HG02818.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0015a0001c0001t0032a0001c0001t0044others(3): Show | a0001c0001t0015g0136 a0001c0001t0032g0246 a0001c0001t0044g0312 others(3): Show |
6 | 322 | 0.0186 | 3 | c.677 others(18): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 8/16 | chr10 | TogoVar | |||||||
BLNK_chr10_96184171_96276569 | 96252049 | T | TTTA | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01106.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0010a0001c0001t0027others(5): Show | a0001c0001t0002g0060 a0001c0001t0010g0273 a0001c0001t0027g0058 others(8): Show |
11 | 322 | 0.0342 | 3 | c.48- others(18): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
BLNK_chr10_96184171_96276569 | 96259670 | C | CTTT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(171): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0005 a0001c0001t0001g0029 a0001c0001t0001g0067 others(164): Show |
174 | 322 | 0.5404 | 3 | c.47+ others(20): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 1/16 | chr10 | TogoVar | |||||||
BLNK_chr10_96184171_96276569 | 96273760 | G | GTTT | upstream_gene_variant | MODIFIER | HG00438.hp2 HG01123.hp2 HG01952.hp1 others(23): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0085 a0001c0001t0001g0096 a0001c0001t0001g0120 others(22): Show |
26 | 322 | 0.0808 | 3 | c.-23 others(14): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 2192 | chr10 | TogoVar | |||||||
BLOC1S1_chr12_55711046_55724703 | 55720883 | C | CAAA | downstream_gene_variant | MODIFIER | HG00438.hp1 HG01928.hp1 HG01975.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0006 a0001c0001t0001g0016 others(1): Show |
14 | 410 | 0.0342 | 3 | c.*12 others(14): Show |
BLOC1S1 | ENSG00000135441.8 | transcript | ENST00000548925.6 | protein_coding | 1181 | chr12 | TogoVar | |||||||
BLOC1S3_chr19_45173784_45186800 | 45178649 | C | CAAA | upstream_gene_variant | MODIFIER | HG00639.hp1 HG00735.hp1 HG01074.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0010a0001c0001t0023others(1): Show | a0001c0001t0009g0001 a0001c0001t0010g0001 a0001c0001t0023g0001 others(1): Show |
9 | 426 | 0.0211 | 3 | c.-19 others(12): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 134 | chr19 | TogoVar | |||||||
BLOC1S3_chr19_45173784_45186800 | 45183623 | C | CTTT | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG02622.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0001 a0001c0001t0002g0001 a0001c0001t0004g0001 others(4): Show |
18 | 426 | 0.0423 | 3 | c.*37 others(14): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 1824 | chr19 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8016325 | C | CAAA | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00639.hp1 others(65): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0016a0001c0001t0017others(2): Show | a0001c0001t0003g0002 a0001c0001t0003g0004 a0001c0001t0003g0005 others(55): Show |
68 | 364 | 0.1868 | 3 | c.385 others(18): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8016876 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(176): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(162): Show |
179 | 364 | 0.4918 | 3 | c.385 others(20): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8019269 | C | CTTT | intron_variant | MODIFIER | HG01358.hp2 HG02280.hp1 HG02451.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0007 | a0001c0001t0001g0077 a0001c0001t0002g0276 a0001c0001t0007g0191 others(4): Show |
7 | 364 | 0.0192 | 3 | c.385 others(20): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8024514 | C | CAAA | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00733.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0015 | a0001c0001t0002g0022 a0001c0001t0002g0023 a0001c0001t0002g0024 others(29): Show |
32 | 364 | 0.0879 | 3 | c.384 others(20): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 4/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8028364 | T | TAAA | intron_variant | MODIFIER | HG01099.hp2 HG02109.hp1 HG02258.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 a0001c0001t0005g0203 a0001c0001t0005g0204 others(11): Show |
15 | 364 | 0.0412 | 3 | c.326 others(20): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8035358 | T | TAAA | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00423.hp2 others(114): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0001c0001t0005a0001c0001t0008others(6): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(107): Show |
117 | 364 | 0.3214 | 3 | c.325 others(20): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8041312 | C | CTTT | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(163): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001 a0001c0001t0001g0006 a0001c0001t0001g0007 others(154): Show |
166 | 364 | 0.4560 | 3 | c.196 others(16): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8044283 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00544.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0071 a0001c0001t0001g0095 a0001c0001t0002g0301 others(11): Show |
16 | 364 | 0.0440 | 3 | c.196 others(20): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8049371 | C | CAAA | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02280.hp1 others(14): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0001c0001t0007a0002c0002t0004 | a0001c0001t0004g0009 a0001c0001t0004g0025 a0001c0001t0004g0026 others(13): Show |
17 | 364 | 0.0467 | 3 | c.196 others(20): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8058357 | G | GAAA | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp1 HG00609.hp2 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0092 others(26): Show |
31 | 364 | 0.0852 | 3 | c.195 others(20): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
BLOC1S6_chr15_45582379_45614708 | 45593386 | G | GAAA | intron_variant | MODIFIER | HG01109.hp2 HG02735.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0025 | a0001c0001t0001g0025 a0001c0001t0001g0082 a0001c0001t0003g0088 others(2): Show |
6 | 362 | 0.0166 | 3 | c.224 others(20): Show |
BLOC1S6 | ENSG00000104164.12 | transcript | ENST00000220531.9 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLOC1S6_chr15_45582379_45614708 | 45610177 | C | CAAA | downstream_gene_variant | MODIFIER | HG00423.hp2 HG01109.hp2 HG02080.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0003 a0001c0001t0002g0008 a0001c0001t0002g0035 others(7): Show |
19 | 362 | 0.0525 | 3 | c.*36 others(14): Show |
BLOC1S6 | ENSG00000104164.12 | transcript | ENST00000220531.9 | protein_coding | 470 | chr15 | TogoVar | |||||||
BLTP1_chr4_122147331_122367752 | 122153159 | G | GTTT | intron_variant | MODIFIER | HG02004.hp2 HG02056.hp1 NA18943.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0034others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0034t0001others(1): Show | a0001c0001t0001g0287 a0001c0001t0001g0288 a0001c0001t0001g0289 others(4): Show |
7 | 336 | 0.0208 | 3 | c.-12 others(20): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 1/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122154162 | C | CTTT | intron_variant | MODIFIER | HG01175.hp1 HG01256.hp1 HG01515.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0308 a0001c0001t0001g0309 a0001c0001t0001g0310 others(6): Show |
9 | 336 | 0.0268 | 3 | c.-34 others(16): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 2/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122155249 | T | TAAA | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01361.hp2 others(28): Show |
a0001a0003a0008others(1): Show | a0001c0007a0003c0006a0008c0011others(2): Show | a0001c0007t0001a0003c0006t0001a0008c0011t0001others(3): Show | a0001c0007t0001g0157 a0001c0007t0001g0238 a0001c0007t0001g0239 others(28): Show |
31 | 336 | 0.0923 | 3 | c.-34 others(20): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 2/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122157057 | G | GGGA | intron_variant | MODIFIER | HG01106.hp2 HG01257.hp2 HG01258.hp2 others(8): Show |
a0001 | a0001c0005a0001c0019 | a0001c0005t0001a0001c0019t0001 | a0001c0005t0001g0105 a0001c0005t0001g0106 a0001c0005t0001g0107 others(7): Show |
11 | 336 | 0.0327 | 3 | c.-34 others(20): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 2/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122215837 | C | CCCG | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG02257.hp1 others(11): Show |
a0001a0010 | a0001c0007a0010c0043a0010c0044 | a0001c0007t0001a0010c0043t0001a0010c0044t0001 | a0001c0007t0001g0157 a0001c0007t0001g0238 a0001c0007t0001g0239 others(11): Show |
14 | 336 | 0.0417 | 3 | c.224 others(22): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 20/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122237981 | C | CAAA | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG02257.hp1 others(9): Show |
a0001a0010 | a0001c0007a0001c0017a0010c0043others(1): Show | a0001c0007t0001a0001c0017t0001a0010c0043t0001others(1): Show | a0001c0007t0001g0157 a0001c0007t0001g0238 a0001c0007t0001g0239 others(9): Show |
12 | 336 | 0.0357 | 3 | c.357 others(18): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 27/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122259858 | C | CAAA | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01361.hp2 others(28): Show |
a0001a0003a0008others(1): Show | a0001c0007a0003c0006a0008c0011others(2): Show | a0001c0007t0001a0003c0006t0001a0008c0011t0001others(3): Show | a0001c0007t0001g0157 a0001c0007t0001g0238 a0001c0007t0001g0239 others(28): Show |
31 | 336 | 0.0923 | 3 | c.676 others(22): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 42/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122268306 | C | CCTT | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG01361.hp2 others(28): Show |
a0001a0003a0008others(1): Show | a0001c0007a0003c0006a0008c0011others(2): Show | a0001c0007t0001a0003c0006t0001a0008c0011t0001others(3): Show | a0001c0007t0001g0157 a0001c0007t0001g0238 a0001c0007t0001g0239 others(28): Show |
31 | 336 | 0.0923 | 3 | c.749 others(22): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 46/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122290808 | A | ATAT | intron_variant | MODIFIER | HG01884.hp1 HG01993.hp2 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0251 a0001c0001t0001g0289 a0001c0001t0003g0260 |
3 | 336 | 0.0089 | 3 | c.938 others(22): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 54/87 | chr4 | TogoVar | |||||||
BLTP1_chr4_122147331_122367752 | 122321979 | A | ATTT | intron_variant | MODIFIER | HG01884.hp2 HG02258.hp2 HG02280.hp2 others(7): Show |
a0001a0003a0008 | a0001c0001a0003c0006a0008c0011 | a0001c0001t0001a0003c0006t0001a0008c0011t0007 | a0001c0001t0001g0296 a0001c0001t0001g0299 a0003c0006t0001g0010 others(7): Show |
10 | 336 | 0.0298 | 3 | c.109 others(24): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 64/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122324872 | C | CTAG | intron_variant | MODIFIER | HG01106.hp2 HG01257.hp2 HG01258.hp2 others(8): Show |
a0001 | a0001c0005a0001c0019 | a0001c0005t0001a0001c0019t0001 | a0001c0005t0001g0105 a0001c0005t0001g0106 a0001c0005t0001g0107 others(7): Show |
11 | 336 | 0.0327 | 3 | c.111 others(22): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 65/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122332629 | C | CTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00408.hp1 others(69): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0003a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0004a0001c0003t0001others(10): Show | a0001c0001t0001g0221 a0001c0001t0001g0264 a0001c0001t0001g0300 others(68): Show |
72 | 336 | 0.2143 | 3 | c.117 others(22): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 69/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122354476 | G | GTTT | intron_variant | MODIFIER | HG00639.hp1 HG00738.hp2 HG02257.hp1 others(11): Show |
a0001a0010 | a0001c0007a0010c0043a0010c0044 | a0001c0007t0001a0010c0043t0001a0010c0044t0001 | a0001c0007t0001g0157 a0001c0007t0001g0238 a0001c0007t0001g0239 others(11): Show |
14 | 336 | 0.0417 | 3 | c.145 others(22): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 84/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP2_chr17_28609446_28650158 | 28625334 | C | CAAA | intron_variant | MODIFIER | HG02486.hp1 HG02486.hp2 HG02698.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 a0001c0001t0001g0039 a0001c0001t0001g0075 others(4): Show |
9 | 310 | 0.0290 | 3 | c.459 others(20): Show |
BLTP2 | ENSG00000007202.16 | transcript | ENST00000528896.7 | protein_coding | 24/38 | chr17 | TogoVar | |||||||
BLTP3A_chr6_34787083_34882514 | 34820814 | A | ATTT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(104): Show |
a0002a0003a0004others(8): Show | a0002c0002a0002c0034a0003c0003others(10): Show | a0002c0002t0002a0002c0002t0023a0002c0002t0036others(26): Show | a0002c0002t0002g0047 a0002c0002t0002g0048 a0002c0002t0002g0049 others(104): Show |
107 | 312 | 0.3430 | 3 | c.45- others(16): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34829027 | C | CAAA | intron_variant | MODIFIER | HG00558.hp1 HG00733.hp1 HG02897.hp2 others(3): Show |
a0003a0006a0026 | a0003c0003a0006c0007a0026c0030 | a0003c0003t0003a0006c0007t0019a0026c0030t0019 | a0003c0003t0003g0107 a0003c0003t0003g0120 a0003c0003t0003g0127 others(3): Show |
6 | 312 | 0.0192 | 3 | c.339 others(20): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 4/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |