regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BIN1_chr2_127043032_127112154 | 127058554 | CCT | C | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00621.hp2 others(106): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0007others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(10): Show | a0001c0001t0001g0017a0001c0001t0001g0019a0001c0001t0001g0020others(102): Show | 109 | 344 | 0.3169 | -2 | c.100 others(19): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 11/18 | chr2 | TogoVar | ||||||
BIN1_chr2_127043032_127112154 | 127059270 | CTG | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(119): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(14): Show | a0001c0001t0001g0016a0001c0001t0001g0031a0001c0001t0001g0037others(110): Show | 122 | 344 | 0.3547 | -2 | c.858 others(17): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 10/18 | chr2 | TogoVar | ||||||
BIN1_chr2_127043032_127112154 | 127067068 | CAA | C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00609.hp2 others(53): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(10): Show | a0001c0001t0001g0019a0001c0001t0001g0066a0001c0001t0001g0147others(52): Show | 56 | 344 | 0.1628 | -2 | c.612 others(19): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 7/18 | chr2 | TogoVar | ||||||
BIN1_chr2_127043032_127112154 | 127069731 | AAC | A | intron_variant | MODIFIER | HG00639.hp2 HG01258.hp1 HG02257.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0069a0001c0001t0001g0102a0001c0001t0001g0134others(3): Show | 6 | 344 | 0.0174 | -2 | c.411 others(17): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 5/18 | chr2 | TogoVar | ||||||
BIN1_chr2_127043032_127112154 | 127072621 | GAA | G | intron_variant | MODIFIER | HG00423.hp1 HG00609.hp2 HG00673.hp2 others(43): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(4): Show | a0001c0001t0001g0046a0001c0001t0001g0169a0001c0001t0001g0225others(41): Show | 46 | 344 | 0.1337 | -2 | c.166 others(19): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 2/18 | chr2 | TogoVar | ||||||
BIN1_chr2_127043032_127112154 | 127080661 | CCA | C | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00597.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0006others(3): Show | a0001c0001t0001g0076a0001c0001t0001g0078a0001c0001t0001g0086others(23): Show | 28 | 344 | 0.0814 | -2 | c.85- others(17): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/18 | chr2 | TogoVar | ||||||
BIN1_chr2_127043032_127112154 | 127081734 | CCA | C | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp1 HG01891.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(8): Show | 11 | 344 | 0.0320 | -2 | c.85- others(17): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/18 | chr2 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51279916 | CTT | C | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00558.hp2 others(63): Show |
a0001a0002a0004 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0009t0002others(2): Show | a0001c0001t0001g0353a0001c0001t0002g0002a0001c0001t0002g0012others(57): Show | 66 | 400 | 0.1650 | -2 | c.*15 others(13): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 1121 | chr12 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51283263 | CAA | C | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00597.hp2 others(30): Show |
a0003a0004a0009 | a0003c0003a0004c0005a0004c0006others(1): Show | a0003c0003t0001a0004c0005t0001a0004c0005t0005others(2): Show | a0003c0003t0001g0116a0003c0003t0001g0164a0003c0003t0001g0189others(29): Show | 33 | 400 | 0.0825 | -2 | c.166 others(21): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 12/12 | chr12 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51285626 | CTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(263): Show |
a0001a0002a0005others(5): Show | a0001c0001a0001c0004a0001c0019others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0004a0001c0001t0001g0009a0001c0001t0001g0010others(248): Show | 266 | 400 | 0.6650 | -2 | c.159 others(19): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 11/12 | chr12 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51295577 | AAT | A | intron_variant | MODIFIER | HG00099.hp1 HG01928.hp1 HG01981.hp2 others(8): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0130a0001c0001t0001g0132a0001c0001t0001g0133others(8): Show | 11 | 400 | 0.0275 | -2 | c.761 others(17): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 9/12 | chr12 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51305792 | ATT | A | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp1 others(68): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0002c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0159a0001c0001t0001g0191a0001c0001t0001g0211others(64): Show | 71 | 400 | 0.1775 | -2 | c.163 others(19): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 2/12 | chr12 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51307282 | CAA | C | intron_variant | MODIFIER | HG01169.hp2 HG02896.hp2 NA18522.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0272a0001c0001t0001g0330a0001c0004t0001g0320others(3): Show | 6 | 400 | 0.0150 | -2 | c.163 others(19): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 2/12 | chr12 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51321876 | CTT | C | intron_variant | MODIFIER | NA18982.hp1 NA18995.hp1 NA19060.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0007a0002c0002t0002g0075a0002c0002t0002g0076 | 4 | 400 | 0.0100 | -2 | c.81+ others(17): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51322146 | ACT | A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00639.hp1 others(42): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0004a0001c0019others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(6): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0018others(39): Show | 45 | 400 | 0.1125 | -2 | c.81+ others(17): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51322797 | CTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(221): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0004a0001c0019others(12): Show | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(16): Show | a0001c0001t0001g0014a0001c0001t0001g0015a0001c0001t0001g0017others(210): Show | 224 | 400 | 0.5600 | -2 | c.81+ others(17): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22616866 | CTT | C | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00733.hp1 HG01123.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0032a0001c0001t0002g0006others(34): Show | 37 | 386 | 0.0959 | -2 | c.*45 others(13): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 3551 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22616895 | TTG | T | downstream_gene_variant | MODIFIER | HG00639.hp2 HG01258.hp2 HG01993.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0231a0001c0001t0001g0232a0001c0001t0001g0233others(8): Show | 11 | 386 | 0.0285 | -2 | c.*45 others(13): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 3522 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22620417 | GTT | G | splice_region_variant | LOW | HG00733.hp2 HG00738.hp2 HG01192.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010a0001c0001t0013others(4): Show | a0001c0001t0008g0016a0001c0001t0008g0226a0001c0001t0008g0227others(14): Show | 19 | 386 | 0.0492 | -2 | c.*10 others(13): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 9/9 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22621582 | CAG | C | intron_variant | MODIFIER | HG01891.hp2 HG02451.hp2 NA18522.hp1 |
a0001a0003 | a0001c0001a0001c0002a0003c0010 | a0001c0001t0012a0001c0002t0001a0003c0010t0025 | a0001c0001t0012g0129a0001c0002t0001g0256a0003c0010t0025g0224 | 3 | 386 | 0.0078 | -2 | c.616 others(15): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22636376 | GGA | G | intron_variant | MODIFIER | HG00423.hp2 NA18944.hp1 NA18952.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0153a0001c0002t0001g0173a0001c0002t0001g0192 | 3 | 386 | 0.0078 | -2 | c.160 others(17): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 4/8 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22638070 | AAG | A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(85): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0032a0001c0001t0001g0332a0001c0001t0002g0005others(82): Show | 88 | 386 | 0.2280 | -2 | c.58- others(17): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22641208 | CAT | C | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp2 HG02004.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0021 | a0001c0001t0008g0016a0001c0001t0008g0226a0001c0001t0008g0227others(3): Show | 7 | 386 | 0.0181 | -2 | c.57+ others(17): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22645165 | CAA | C | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp2 HG00735.hp2 others(29): Show |
a0001 | a0001c0001a0001c0002a0001c0009others(1): Show | a0001c0001t0004a0001c0001t0007a0001c0001t0008others(13): Show | a0001c0001t0004g0223a0001c0001t0004g0294a0001c0001t0004g0296others(27): Show | 32 | 386 | 0.0829 | -2 | c.9-3 others(13): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22648136 | CAA | C | intron_variant | MODIFIER | NA18951.hp1 NA18955.hp1 NA18959.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011 | a0001c0001t0006g0307a0001c0001t0006g0308a0001c0001t0006g0309others(5): Show | 8 | 386 | 0.0207 | -2 | c.9-3 others(15): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22649812 | AAC | A | intron_variant | MODIFIER | HG00642.hp1 HG01070.hp2 HG01167.hp2 others(8): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0032a0001c0003t0001others(1): Show | a0001c0002t0001g0140a0001c0002t0001g0256a0001c0002t0001g0299others(8): Show | 11 | 386 | 0.0285 | -2 | c.9-5 others(15): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22649857 | ACC | A | intron_variant | MODIFIER | HG00408.hp2 HG00741.hp2 HG01261.hp2 others(42): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(8): Show | a0001c0001t0001g0009a0001c0001t0001g0108a0001c0001t0001g0109others(39): Show | 45 | 386 | 0.1166 | -2 | c.9-5 others(15): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22649905 | CAT | C | intron_variant | MODIFIER | HG01099.hp2 HG02486.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0002t0003 | a0001c0001t0007g0324a0001c0001t0007g0325a0001c0001t0007g0326others(2): Show | 5 | 386 | 0.0130 | -2 | c.9-5 others(15): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22652498 | CAT | C | intron_variant | MODIFIER | HG03139.hp1 HG03225.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0321a0001c0001t0007g0322a0001c0001t0007g0323 | 3 | 386 | 0.0078 | -2 | c.9-7 others(15): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22663207 | AGT | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(96): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0193a0001c0001t0002g0086a0001c0001t0002g0087others(89): Show | 99 | 386 | 0.2565 | -2 | c.8+5 others(15): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22663440 | TAA | T | intron_variant | MODIFIER | HG00733.hp2 HG00738.hp2 HG02258.hp2 others(11): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0001c0001t0008a0001c0001t0012others(6): Show | a0001c0001t0001g0231a0001c0001t0001g0232a0001c0001t0001g0233others(11): Show | 14 | 386 | 0.0363 | -2 | c.8+5 others(15): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102342340 | GTA | G | upstream_gene_variant | MODIFIER | HG03704.hp2 HG03834.hp1 NA20905.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204a0001c0001t0001g0206a0001c0001t0001g0225 | 3 | 344 | 0.0087 | -2 | c.-62 others(13): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 4873 | chr11 | TogoVar | ||||||
BIRC2_chr11_102342214_102383670 | 102365743 | AGT | A | intron_variant | MODIFIER | HG01169.hp1 HG01361.hp2 HG02040.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071a0001c0001t0001g0192a0001c0001t0001g0233others(1): Show | 4 | 344 | 0.0116 | -2 | c.112 others(21): Show |
BIRC2 | ENSG00000110330.10 | transcript | ENST00000227758.7 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BIRC3_chr11_102312484_102344403 | 102317588 | GGT | G | intron_variant | MODIFIER | HG06807.hp1 NA18980.hp1 NA20300.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0008a0001c0001t0026a0001c0002t0001 | a0001c0001t0008g0048a0001c0001t0026g0049a0001c0002t0001g0053 | 3 | 384 | 0.0078 | -2 | c.-26 others(19): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BIRC3_chr11_102312484_102344403 | 102322777 | TAA | T | 5_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01346.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0025a0001c0001t0026others(1): Show | a0001c0001t0007g0002a0001c0001t0007g0005a0001c0001t0007g0032others(7): Show | 10 | 384 | 0.0260 | -2 | c.-17 others(13): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2/9 | 1707 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
BIRC3_chr11_102312484_102344403 | 102328858 | TTA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(249): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0007others(27): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(120): Show | 252 | 384 | 0.6563 | -2 | c.103 others(17): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BIRC3_chr11_102312484_102344403 | 102342340 | GTA | G | downstream_gene_variant | MODIFIER | HG03704.hp1 HG03834.hp2 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0022 | 3 | 384 | 0.0078 | -2 | c.*52 others(13): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2938 | chr11 | TogoVar | ||||||
BIRC5_chr17_78209253_78230635 | 78209738 | ATT | A | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02572.hp2 HG02622.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011a0001c0001t0031 | a0001c0001t0009g0017a0001c0001t0009g0019a0001c0001t0011g0017others(1): Show | 9 | 432 | 0.0208 | -2 | c.-45 others(13): Show |
BIRC5 | ENSG00000089685.15 | transcript | ENST00000350051.8 | protein_coding | 4514 | chr17 | TogoVar | ||||||
BIRC5_chr17_78209253_78230635 | 78211431 | CAG | C | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02572.hp2 HG02622.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0011a0001c0001t0014 | a0001c0001t0009g0017a0001c0001t0009g0019a0001c0001t0011g0017others(2): Show | 12 | 432 | 0.0278 | -2 | c.-28 others(13): Show |
BIRC5 | ENSG00000089685.15 | transcript | ENST00000350051.8 | protein_coding | 2821 | chr17 | TogoVar | ||||||
BIRC5_chr17_78209253_78230635 | 78224062 | TTG | T | 3_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00544.hp2 others(132): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(9): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0009others(31): Show | 135 | 432 | 0.3125 | -2 | c.*51 others(11): Show |
BIRC5 | ENSG00000089685.15 | transcript | ENST00000350051.8 | protein_coding | 4/4 | 510 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
BIRC5_chr17_78209253_78230635 | 78229265 | ATT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(256): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(28): Show | a0001c0001t0002g0001a0001c0001t0002g0004a0001c0001t0002g0009others(78): Show | 259 | 432 | 0.5995 | -2 | c.*57 others(13): Show |
BIRC5 | ENSG00000089685.15 | transcript | ENST00000350051.8 | protein_coding | 3631 | chr17 | TogoVar | ||||||
BIRC5_chr17_78209253_78230635 | 78230230 | GAA | G | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00558.hp2 others(40): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0008others(3): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0014others(12): Show | 43 | 432 | 0.0995 | -2 | c.*66 others(13): Show |
BIRC5 | ENSG00000089685.15 | transcript | ENST00000350051.8 | protein_coding | 4596 | chr17 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32360952 | ACT | A | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02622.hp2 others(8): Show |
a0001 | a0001c0007a0001c0018a0001c0030others(1): Show | a0001c0007t0004a0001c0007t0006a0001c0007t0007others(3): Show | a0001c0007t0004g0017a0001c0007t0004g0018a0001c0007t0004g0019others(8): Show | 11 | 274 | 0.0402 | -2 | c.325 others(19): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32369945 | AAT | A | intron_variant | MODIFIER | HG00735.hp2 HG01993.hp1 HG02015.hp2 others(4): Show |
a0001 | a0001c0001a0001c0005a0001c0044 | a0001c0001t0001a0001c0005t0001a0001c0044t0001 | a0001c0001t0001g0050a0001c0001t0001g0231a0001c0001t0001g0245others(4): Show | 7 | 274 | 0.0256 | -2 | c.326 others(19): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32369984 | ATG | A | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG01099.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002others(1): Show | a0001c0001t0001a0001c0010t0002a0002c0002t0002others(2): Show | a0001c0001t0001g0214a0001c0010t0002g0063a0002c0002t0002g0087others(5): Show | 8 | 274 | 0.0292 | -2 | c.326 others(19): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32377213 | ATG | A | intron_variant | MODIFIER | HG00423.hp2 HG01074.hp2 HG01884.hp1 others(29): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0006others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(10): Show | a0001c0001t0001g0056a0001c0001t0001g0248a0001c0001t0001g0266others(29): Show | 32 | 274 | 0.1168 | -2 | c.326 others(17): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32381572 | GTC | G | intron_variant | MODIFIER | HG02257.hp2 HG02922.hp1 HG03579.hp1 |
a0004 | a0004c0019a0004c0047 | a0004c0019t0003a0004c0047t0003 | a0004c0019t0003g0142a0004c0019t0003g0144a0004c0047t0003g0143 | 3 | 274 | 0.0110 | -2 | c.645 others(19): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 3/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32390004 | CAT | C | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02895.hp1 others(2): Show |
a0001 | a0001c0003 | a0001c0003t0003a0001c0003t0009 | a0001c0003t0003g0032a0001c0003t0003g0033a0001c0003t0003g0034others(2): Show | 5 | 274 | 0.0183 | -2 | c.839 others(19): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 4/73 | chr2 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32393946 | CTA | C | intron_variant | MODIFIER | HG00280.hp1 HG01168.hp1 HG01243.hp2 others(9): Show |
a0001a0002a0005 | a0001c0001a0001c0006a0001c0010others(3): Show | a0001c0001t0001a0001c0006t0003a0001c0010t0002others(3): Show | a0001c0001t0001g0189a0001c0006t0003g0002a0001c0006t0003g0008others(9): Show | 12 | 274 | 0.0438 | -2 | c.952 others(19): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 5/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32397574 | CTG | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00423.hp2 others(112): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0003a0001c0010others(16): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0003others(21): Show | a0001c0001t0001g0197a0001c0001t0001g0198a0001c0003t0002g0130others(112): Show | 115 | 274 | 0.4197 | -2 | c.103 others(21): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 6/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |