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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BICDL1_chr12_119984236_120099494 | 120020188 | ACACAT | A | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00558.hp1 others(107): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(9): Show | a0001c0001t0002g0004 a0001c0001t0002g0132 a0001c0001t0002g0133 others(105): Show |
110 | 294 | 0.3742 | -5 | c.645 others(24): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | chr12 | TogoVar | |||||||
BICDL1_chr12_119984236_120099494 | 120021904 | CAAATA | C | intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG01175.hp2 others(24): Show |
a0001 | a0001c0001a0001c0002a0001c0006 | a0001c0001t0001a0001c0001t0025a0001c0002t0003others(3): Show | a0001c0001t0001g0287 a0001c0001t0025g0286 a0001c0002t0003g0226 others(24): Show |
27 | 294 | 0.0918 | -5 | c.645 others(24): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICDL1_chr12_119984236_120099494 | 120040089 | TTTTTC | T | intron_variant | MODIFIER | HG02145.hp1 HG02622.hp1 HG03471.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0025a0001c0006t0001 | a0001c0001t0001g0287 a0001c0001t0025g0286 a0001c0006t0001g0285 |
3 | 294 | 0.0102 | -5 | c.646 others(24): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICDL1_chr12_119984236_120099494 | 120057818 | CTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00738.hp2 HG01069.hp1 others(72): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(6): Show | a0001c0001t0001g0128 a0001c0001t0002g0004 a0001c0001t0002g0132 others(70): Show |
75 | 157 | 0.4777 | -5 | c.646 others(22): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42841181 | ATATTT | A | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02897.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0001g0008 a0001c0001t0004g0127 a0001c0001t0004g0157 others(6): Show |
9 | 268 | 0.0336 | -5 | c.184 others(26): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRAL_chr6_42777052_42873556 | 42845195 | GTTTTT | G | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG01168.hp1 others(8): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0020 a0001c0001t0001g0259 a0001c0001t0001g0268 others(8): Show |
11 | 17 | 0.6471 | -5 | c.184 others(24): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 6/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47617090 | AGTGCT | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(249): Show |
a0001a0002a0003others(8): Show | a0001c0001a0001c0003a0001c0006others(29): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0015 a0001c0001t0001g0021 a0001c0001t0001g0022 others(246): Show |
252 | 310 | 0.8129 | -5 | c.-10 others(24): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47639629 | ATTTTT | A | intron_variant | MODIFIER | HG00438.hp1 HG00639.hp1 HG00642.hp2 others(51): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0003a0001c0006others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(17): Show | a0001c0001t0001g0046 a0001c0001t0001g0047 a0001c0001t0001g0114 others(51): Show |
54 | 124 | 0.4355 | -5 | c.-10 others(26): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BICRA_chr19_47604134_47708277 | 47659734 | GTTCTC | G | intron_variant | MODIFIER | HG02129.hp2 HG04204.hp2 NA18961.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0232 a0001c0001t0001g0250 a0001c0001t0001g0305 others(2): Show |
5 | 310 | 0.0161 | -5 | c.-10 others(26): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51283263 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp2 others(39): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0008others(1): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0023 a0001c0001t0001g0026 others(31): Show |
42 | 62 | 0.6774 | -5 | c.166 others(24): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 12/12 | chr12 | TogoVar | |||||||
BIN2_chr12_51276038_51329174 | 51305716 | ATTTAC | A | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp1 NA18906.hp2 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0034 a0003c0003t0001g0336 |
3 | 398 | 0.0075 | -5 | c.163 others(22): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 2/12 | chr12 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22645533 | GAGGAA | G | intron_variant | MODIFIER | HG02723.hp1 HG02818.hp1 HG03139.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0003 | a0001c0001t0002g0012 a0001c0001t0002g0087 a0001c0001t0002g0088 others(7): Show |
11 | 381 | 0.0289 | -5 | c.9-7 others(16): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22649371 | AAAAGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00408.hp1 others(126): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0015 a0001c0001t0001g0142 a0001c0001t0001g0146 others(111): Show |
129 | 384 | 0.3359 | -5 | c.9-4 others(18): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
BIN3_chr8_22615418_22674121 | 22663440 | TAAAAA | T | intron_variant | MODIFIER | HG01167.hp1 HG02080.hp1 HG02602.hp2 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0020 a0001c0002t0001g0196 a0001c0002t0001g0197 others(3): Show |
7 | 110 | 0.0636 | -5 | c.8+5 others(18): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
BIRC2_chr11_102342214_102383670 | 102351614 | CAAAAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00735.hp1 HG02040.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 a0001c0001t0001g0035 a0001c0001t0001g0228 others(7): Show |
13 | 43 | 0.3023 | -5 | c.995 others(20): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BIRC3_chr11_102312484_102344403 | 102328875 | TATATA | T | intron_variant | MODIFIER | HG01346.hp2 HG02630.hp2 HG02895.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0025a0001c0001t0026 | a0001c0001t0008g0032 a0001c0001t0008g0043 a0001c0001t0008g0045 others(3): Show |
7 | 382 | 0.0183 | -5 | c.103 others(20): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 4/8 | chr11 | TogoVar | |||||||
BIRC5_chr17_78209253_78230635 | 78228171 | TAAATA | T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00408.hp2 others(162): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(10): Show | a0001c0001t0002g0001 a0001c0001t0002g0004 a0001c0001t0002g0009 others(34): Show |
165 | 429 | 0.3846 | -5 | c.*46 others(16): Show |
BIRC5 | ENSG00000089685.15 | transcript | ENST00000350051.8 | protein_coding | 2537 | chr17 | TogoVar | |||||||
BIRC6_chr2_32352023_32623878 | 32352376 | AGATGG | A | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01106.hp1 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0071 a0002c0004t0001g0093 a0002c0004t0001g0147 others(1): Show |
4 | 272 | 0.0147 | -5 | c.-47 others(16): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 4646 | chr2 | TogoVar | |||||||
BIRC6_chr2_32352023_32623878 | 32369944 | AAATAT | A | intron_variant | MODIFIER | HG02135.hp1 HG03041.hp2 HG03139.hp1 others(3): Show |
a0001 | a0001c0001a0001c0005a0001c0014others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0014t0001others(1): Show | a0001c0001t0001g0104 a0001c0001t0001g0231 a0001c0001t0001g0252 others(3): Show |
6 | 253 | 0.0237 | -5 | c.326 others(22): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32369946 | ATATAT | A | intron_variant | MODIFIER | HG00735.hp1 HG01106.hp1 HG01358.hp2 others(10): Show |
a0001a0002 | a0001c0009a0002c0002a0002c0004others(1): Show | a0001c0009t0001a0002c0002t0001a0002c0004t0001others(1): Show | a0001c0009t0001g0029 a0002c0002t0001g0065 a0002c0002t0001g0091 others(10): Show |
13 | 230 | 0.0565 | -5 | c.326 others(22): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | chr2 | TogoVar | |||||||
BIRC6_chr2_32352023_32623878 | 32391569 | AAGAGT | A | intron_variant | MODIFIER | HG03041.hp1 NA18906.hp2 |
a0002a0011 | a0002c0002a0011c0032 | a0002c0002t0001a0011c0032t0007 | a0002c0002t0001g0151 a0011c0032t0007g0150 |
2 | 272 | 0.0074 | -5 | c.840 others(20): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 4/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32419638 | ATAAAG | A | intron_variant | MODIFIER | HG02622.hp2 HG03209.hp2 HG06807.hp2 others(1): Show |
a0001 | a0001c0007a0001c0018a0001c0031 | a0001c0007t0003a0001c0018t0003a0001c0031t0003 | a0001c0007t0003g0185 a0001c0018t0003g0183 a0001c0018t0003g0184 others(1): Show |
4 | 272 | 0.0147 | -5 | c.287 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 10/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32431181 | CTTTTT | C | intron_variant | MODIFIER | HG02083.hp2 HG03490.hp2 HG03688.hp2 others(10): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0038 a0001c0003t0001g0097 a0001c0003t0001g0123 others(10): Show |
13 | 44 | 0.2955 | -5 | c.324 others(22): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 12/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32446738 | GTTTTT | G | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02717.hp2 others(2): Show |
a0001 | a0001c0007a0001c0030 | a0001c0007t0002a0001c0030t0002 | a0001c0007t0002g0017 a0001c0007t0002g0019 a0001c0007t0002g0021 others(2): Show |
5 | 37 | 0.1351 | -5 | c.448 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 21/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32460980 | TTGCTC | T | intron_variant | MODIFIER | HG02965.hp2 NA19012.hp1 |
a0002a0010 | a0002c0002a0010c0028 | a0002c0002t0001a0010c0028t0001 | a0002c0002t0001g0126 a0010c0028t0001g0179 |
2 | 270 | 0.0074 | -5 | c.475 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32460998 | CTCTCT | C | intron_variant | MODIFIER | HG01167.hp1 HG01243.hp2 HG01261.hp2 others(8): Show |
a0001a0002a0005 | a0001c0006a0001c0009a0001c0021others(3): Show | a0001c0006t0001a0001c0009t0001a0001c0021t0001others(3): Show | a0001c0006t0001g0009 a0001c0009t0001g0028 a0001c0009t0001g0029 others(8): Show |
11 | 239 | 0.0460 | -5 | c.475 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32461062 | CTTCTG | C | intron_variant | MODIFIER | HG01106.hp1 HG02015.hp1 HG02615.hp1 others(7): Show |
a0001a0002a0009 | a0001c0001a0001c0010a0001c0013others(3): Show | a0001c0001t0001a0001c0010t0001a0001c0013t0001others(3): Show | a0001c0001t0001g0234 a0001c0010t0001g0052 a0001c0013t0001g0152 others(7): Show |
10 | 259 | 0.0386 | -5 | c.475 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32480621 | CTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG01071.hp1 others(35): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0007others(6): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0002others(6): Show | a0001c0001t0001g0101 a0001c0001t0001g0108 a0001c0001t0001g0186 others(35): Show |
38 | 41 | 0.9268 | -5 | c.740 others(22): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 37/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32508276 | CTTTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG01106.hp2 HG01109.hp1 others(45): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0003a0001c0006others(9): Show | a0001c0001t0001a0001c0003t0001a0001c0006t0001others(9): Show | a0001c0001t0001g0190 a0001c0003t0001g0024 a0001c0003t0001g0033 others(45): Show |
48 | 69 | 0.6957 | -5 | c.998 others(20): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 51/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32516703 | ATAAAT | A | intron_variant | MODIFIER | NA18944.hp2 NA18947.hp1 NA18950.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 a0001c0001t0001g0102 a0001c0001t0001g0206 others(4): Show |
7 | 272 | 0.0257 | -5 | c.113 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 55/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32553197 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(32): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0010others(2): Show | a0001c0001t0001a0001c0005t0001a0001c0010t0001others(3): Show | a0001c0001t0001g0051 a0001c0001t0001g0101 a0001c0001t0001g0102 others(32): Show |
35 | 48 | 0.7292 | -5 | c.131 others(26): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 65/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
BIVM_chr13_102794119_102846533 | 102796700 | ATATAT | A | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01169.hp1 HG02735.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0040 a0001c0001t0001g0046 a0001c0001t0003g0044 others(2): Show |
5 | 368 | 0.0136 | -5 | c.-30 others(16): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 2418 | chr13 | TogoVar | |||||||
BIVM_chr13_102794119_102846533 | 102836201 | CTTTTA | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00408.hp2 others(130): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0007a0001c0001t0009others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(95): Show |
133 | 402 | 0.3308 | -5 | c.112 others(24): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
BLID_chr11_122110340_122121215 | 122119746 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(178): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 181 | 305 | 0.5934 | -5 | c.-38 others(16): Show |
BLID | ENSG00000259571.2 | transcript | ENST00000560104.2 | protein_coding | 3532 | chr11 | TogoVar | |||||||
BLK_chr8_11489387_11569599 | 11504367 | GAAAGA | G | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(142): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(18): Show | a0001c0001t0001g0106 a0001c0001t0001g0107 a0001c0001t0001g0120 others(138): Show |
145 | 251 | 0.5777 | -5 | c.-2+ others(20): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11520476 | CAAAAA | C | intron_variant | MODIFIER | HG00639.hp2 HG01891.hp2 HG02486.hp1 others(7): Show |
a0001a0005 | a0001c0002a0001c0005a0001c0012others(1): Show | a0001c0002t0001a0001c0002t0003a0001c0005t0009others(3): Show | a0001c0002t0001g0151 a0001c0002t0003g0262 a0001c0005t0009g0119 others(6): Show |
10 | 99 | 0.1010 | -5 | c.-1- others(22): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLK_chr8_11489387_11569599 | 11541403 | CAAATT | C | intron_variant | MODIFIER | HG01884.hp1 HG02622.hp2 HG02818.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0009 | a0001c0001t0005a0001c0003t0007a0004c0009t0004 | a0001c0001t0005g0085 a0001c0003t0007g0028 a0004c0009t0004g0083 others(2): Show |
5 | 306 | 0.0163 | -5 | c.-1- others(20): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90738564 | AAAAAC | A | intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02280.hp1 others(18): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0010 a0001c0001t0001g0070 others(17): Show |
21 | 158 | 0.1329 | -5 | c.-4- others(20): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90747795 | GTTTGT | G | intron_variant | MODIFIER | HG00323.hp1 HG00597.hp2 NA18940.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0002 | a0001c0001t0001g0032 a0004c0006t0002g0029 a0004c0006t0002g0030 others(2): Show |
5 | 278 | 0.0180 | -5 | c.98+ others(18): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90754354 | TAAGAG | T | intron_variant | MODIFIER | HG02071.hp1 HG03017.hp2 NA18991.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0037 a0001c0001t0001g0199 a0001c0001t0002g0181 others(1): Show |
4 | 278 | 0.0144 | -5 | c.960 others(20): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 4/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90776982 | GGTTTT | G | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00621.hp1 others(55): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0002g0015 a0001c0002t0001g0001 a0001c0002t0001g0011 others(54): Show |
58 | 278 | 0.2086 | -5 | c.255 others(24): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90789987 | GTTTTT | G | intron_variant | MODIFIER | HG02451.hp1 HG02647.hp1 HG03195.hp2 others(4): Show |
a0001a0003a0010 | a0001c0001a0001c0021a0001c0023others(2): Show | a0001c0001t0001a0001c0021t0002a0001c0023t0001others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0157 a0001c0001t0001g0245 others(4): Show |
7 | 54 | 0.1296 | -5 | c.282 others(22): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90790484 | CATATT | C | intron_variant | MODIFIER | HG00544.hp2 HG00597.hp1 HG00621.hp1 others(47): Show |
a0001a0002a0004 | a0001c0002a0001c0009a0001c0017others(2): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0007others(4): Show | a0001c0002t0001g0001 a0001c0002t0001g0011 a0001c0002t0001g0012 others(46): Show |
50 | 278 | 0.1799 | -5 | c.282 others(22): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 14/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90806510 | CAAAAA | C | intron_variant | MODIFIER | HG02145.hp1 HG02451.hp1 HG02647.hp1 others(8): Show |
a0001a0010 | a0001c0001a0001c0009a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0009a0001c0009t0001others(2): Show | a0001c0001t0001g0010 a0001c0001t0001g0070 a0001c0001t0001g0157 others(8): Show |
11 | 169 | 0.0651 | -5 | c.375 others(24): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
BLM_chr15_90712346_90821166 | 90818223 | ACTATC | A | downstream_gene_variant | MODIFIER | HG01496.hp1 HG02886.hp1 HG02896.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0007 others(1): Show |
4 | 278 | 0.0144 | -5 | c.*29 others(16): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 2058 | chr15 | TogoVar | |||||||
BLOC1S2_chr10_100268293_100291680 | 100277027 | TGCCCG | T | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00673.hp1 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(1): Show | a0001c0001t0001g0035 a0001c0001t0001g0125 a0001c0001t0002g0002 others(28): Show |
61 | 376 | 0.1622 | -5 | c.398 others(22): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | |||||||
BLOC1S4_chr4_6711174_6722664 | 6721996 | CACACA | C | downstream_gene_variant | MODIFIER | HG02015.hp2 NA19011.hp1 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 3 | 456 | 0.0066 | -5 | c.*51 others(16): Show |
BLOC1S4 | ENSG00000186222.5 | transcript | ENST00000320776.5 | protein_coding | 4333 | chr4 | TogoVar | |||||||
BLOC1S5_chr6_8008567_8069389 | 8012276 | AAATAT | A | downstream_gene_variant | MODIFIER | HG00738.hp1 HG00741.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 a0001c0001t0002g0290 a0001c0001t0002g0291 |
3 | 362 | 0.0083 | -5 | c.*33 others(16): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 1290 | chr6 | TogoVar | |||||||
BLOC1S6_chr15_45582379_45614708 | 45609790 | CTCTCT | C | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02145.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0088 a0001c0001t0003g0089 a0001c0001t0003g0090 |
3 | 360 | 0.0083 | -5 | c.*32 others(16): Show |
BLOC1S6 | ENSG00000104164.12 | transcript | ENST00000220531.9 | protein_coding | 83 | chr15 | TogoVar | |||||||
BLTP1_chr4_122147331_122367752 | 122154162 | CTTTTT | C | intron_variant | MODIFIER | HG00558.hp2 HG01169.hp2 HG02129.hp2 others(5): Show |
a0001 | a0001c0002a0001c0033 | a0001c0002t0001a0001c0033t0001 | a0001c0002t0001g0002 a0001c0002t0001g0050 a0001c0002t0001g0051 others(4): Show |
8 | 46 | 0.1739 | -5 | c.-34 others(18): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 2/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |