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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BMP8A_chr1_39486636_39534869 | 39518968 | C | CCTAGT | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(260): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0014a0001c0021others(18): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0017others(58): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(195): Show | 263 | 362 | 0.7265 | 5 | c.674 others(22): Show |
BMP8A | ENSG00000183682.8 | transcript | ENST00000331593.6 | protein_coding | 3/6 | chr1 | TogoVar | ||||||
BMP8B_chr1_39752182_39793865 | 39782459 | C | CTAAGT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(234): Show |
a0001a0002a0003others(9): Show | a0001c0002a0001c0003a0001c0005others(17): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0009others(38): Show | a0001c0002t0002g0002a0001c0002t0002g0012a0001c0002t0002g0039others(141): Show | 237 | 430 | 0.5512 | 5 | c.334 others(22): Show |
BMP8B | ENSG00000116985.12 | transcript | ENST00000372827.8 | protein_coding | 1/6 | chr1 | TogoVar | ||||||
BMP8B_chr1_39752182_39793865 | 39790758 | A | ATATAT | upstream_gene_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00621.hp2 others(24): Show |
a0004a0009 | a0004c0006a0004c0012a0009c0017 | a0004c0006t0005a0004c0012t0005a0009c0017t0038 | a0004c0006t0005g0008a0004c0006t0005g0224a0004c0006t0005g0225others(15): Show | 27 | 430 | 0.0628 | 5 | c.-22 others(16): Show |
BMP8B | ENSG00000116985.12 | transcript | ENST00000372827.8 | protein_coding | 1894 | chr1 | TogoVar | ||||||
BMP8B_chr1_39752182_39793865 | 39792224 | T | TTTTTG | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00609.hp2 others(22): Show |
a0001a0003a0004others(2): Show | a0001c0001a0003c0004a0004c0006others(3): Show | a0001c0001t0001a0003c0004t0007a0004c0006t0005others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0089a0003c0004t0007g0177others(15): Show | 25 | 430 | 0.0581 | 5 | c.-37 others(16): Show |
BMP8B | ENSG00000116985.12 | transcript | ENST00000372827.8 | protein_coding | 3360 | chr1 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 33901918 | C | CTTGAA | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(110): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0095a0001c0001t0001g0099a0001c0001t0001g0122others(110): Show | 113 | 232 | 0.4871 | 5 | c.-36 others(16): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 3620 | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 33909693 | A | AAAAAG | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(48): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(31): Show | a0001c0001t0001g0122a0001c0001t0001g0130a0001c0001t0001g0135others(48): Show | 51 | 232 | 0.2198 | 5 | c.219 others(22): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 33920418 | G | GTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG01074.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(4): Show | a0001c0001t0001g0065a0001c0001t0002g0231a0001c0001t0002g0232others(6): Show | 9 | 232 | 0.0388 | 5 | c.219 others(24): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34028601 | G | GTTTTT | intron_variant | MODIFIER | HG00423.hp2 HG00621.hp1 HG00673.hp1 others(13): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0008others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0184a0001c0001t0001g0186a0001c0001t0001g0205others(13): Show | 16 | 232 | 0.0690 | 5 | c.577 others(24): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34065248 | C | CTCTCT | intron_variant | MODIFIER | HG03492.hp2 NA18973.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0070a0001c0003t0002g0197 | 2 | 232 | 0.0086 | 5 | c.107 others(24): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 11/14 | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34068571 | A | ACAAAT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp2 others(103): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(45): Show | a0001c0001t0001g0010a0001c0001t0001g0014a0001c0001t0001g0051others(103): Show | 106 | 232 | 0.4569 | 5 | c.107 others(24): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34113470 | A | ATTTAT | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00423.hp1 others(133): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(49): Show | a0001c0001t0001g0014a0001c0001t0001g0037a0001c0001t0001g0046others(133): Show | 136 | 232 | 0.5862 | 5 | c.174 others(26): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86799506 | C | CTTTCT | intron_variant | MODIFIER | HG02895.hp2 HG03041.hp1 HG03491.hp2 others(2): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0007a0002c0001t0001a0002c0001t0005 | a0001c0002t0007g0192a0002c0001t0001g0149a0002c0001t0001g0150others(2): Show | 5 | 278 | 0.0180 | 5 | c.-26 others(26): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86805461 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG01071.hp2 HG01261.hp2 others(14): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0003a0001c0002t0004a0001c0002t0021others(6): Show | a0001c0002t0003g0075a0001c0002t0003g0110a0001c0002t0004g0100others(14): Show | 17 | 278 | 0.0612 | 5 | c.-26 others(26): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86836306 | C | CCTTTA | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp2 others(152): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0001c0005others(3): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0006others(55): Show | a0001c0002t0003g0048a0001c0002t0003g0065a0001c0002t0003g0068others(152): Show | 155 | 278 | 0.5576 | 5 | c.-26 others(24): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86866406 | T | TTTTTC | intron_variant | MODIFIER | HG02486.hp2 HG02559.hp2 HG02615.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0006a0001c0002t0007a0001c0002t0035others(1): Show | a0001c0002t0006g0025a0001c0002t0006g0125a0001c0002t0006g0126others(5): Show | 8 | 278 | 0.0288 | 5 | c.-15 others(24): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86874403 | C | CCTCCT | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01175.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0022a0001c0002t0036a0001c0002t0037 | a0001c0002t0022g0265a0001c0002t0022g0266a0001c0002t0022g0267others(2): Show | 5 | 278 | 0.0180 | 5 | c.-15 others(24): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86875372 | C | CAAATA | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01175.hp1 others(27): Show |
a0001 | a0001c0002a0001c0003a0001c0006 | a0001c0002t0007a0001c0002t0010a0001c0002t0022others(16): Show | a0001c0002t0007g0192a0001c0002t0007g0269a0001c0002t0007g0271others(27): Show | 30 | 278 | 0.1079 | 5 | c.-15 others(22): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86883549 | C | CAAAAA | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp2 HG01074.hp1 others(35): Show |
a0001 | a0001c0002a0001c0005 | a0001c0002t0003a0001c0002t0004a0001c0002t0016others(8): Show | a0001c0002t0003g0065a0001c0002t0003g0087a0001c0002t0003g0089others(35): Show | 38 | 278 | 0.1367 | 5 | c.68- others(20): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 94934453 | G | GTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00639.hp1 others(127): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0057a0001c0001t0001g0059a0001c0001t0001g0066others(127): Show | 130 | 226 | 0.5752 | 5 | c.-11 others(26): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 94970239 | T | TTCTTC | intron_variant | MODIFIER | HG00642.hp1 HG01243.hp2 HG01515.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(9): Show | a0001c0001t0001g0048a0001c0001t0001g0163a0001c0001t0001g0214others(16): Show | 19 | 226 | 0.0841 | 5 | c.-11 others(26): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 94970297 | T | TCTCTC | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG01106.hp1 others(14): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0087a0001c0001t0001g0088a0001c0001t0001g0153others(14): Show | 17 | 226 | 0.0752 | 5 | c.-11 others(26): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95061045 | A | AAAATG | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(206): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(59): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0048others(206): Show | 209 | 226 | 0.9248 | 5 | c.-17 others(24): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95061210 | C | CACACA | intron_variant | MODIFIER | HG01192.hp2 HG03688.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0083a0001c0001t0002g0187 | 2 | 226 | 0.0089 | 5 | c.-17 others(24): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | chr4 | TogoVar | ||||||
BMPR1B_chr4_94752955_95163448 | 95066364 | G | GGAAAA | intron_variant | MODIFIER | HG00639.hp1 HG01123.hp1 HG01167.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(6): Show | a0001c0001t0001g0154a0001c0001t0002g0043a0001c0001t0002g0083others(10): Show | 13 | 226 | 0.0575 | 5 | c.-17 others(24): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 95155475 | C | CTTTTT | 3_prime_UTR_variant | MODIFIER | HG02055.hp1 HG02622.hp1 HG03491.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0026a0001c0001t0009g0050a0001c0001t0009g0070others(2): Show | 5 | 226 | 0.0221 | 5 | c.*83 others(14): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 13/13 | 835 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||
BMPR2_chr2_202371327_202572749 | 202384569 | T | TCTTTC | intron_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02698.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0011 | a0001c0001t0001g0002a0001c0001t0001g0126a0001c0001t0001g0164others(4): Show | 7 | 224 | 0.0313 | 5 | c.76+ others(20): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | chr2 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202403177 | T | TTCCCC | intron_variant | MODIFIER | HG00609.hp1 HG02723.hp1 HG03098.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0101a0001c0001t0001g0192a0001c0001t0005g0015others(1): Show | 4 | 224 | 0.0179 | 5 | c.76+ others(22): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202480953 | T | TAAAAA | intron_variant | MODIFIER | HG01243.hp1 HG02559.hp1 HG03209.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0022others(2): Show | a0001c0001t0001g0100a0001c0001t0010g0039a0001c0001t0010g0040others(4): Show | 7 | 224 | 0.0313 | 5 | c.418 others(24): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202481168 | T | TTTCTC | intron_variant | MODIFIER | HG02109.hp1 HG02698.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0164a0001c0001t0005g0141a0001c0001t0005g0224 | 3 | 224 | 0.0134 | 5 | c.418 others(24): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202485545 | C | CTTTTT | intron_variant | MODIFIER | HG00609.hp2 HG00642.hp2 HG00735.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0034others(1): Show | a0001c0001t0004g0088a0001c0001t0004g0089a0001c0001t0004g0117others(15): Show | 18 | 224 | 0.0804 | 5 | c.418 others(24): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202531930 | A | ATTTTT | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp2 HG00741.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007a0001c0001t0016others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0176a0001c0001t0001g0184others(6): Show | 9 | 224 | 0.0402 | 5 | c.112 others(22): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202546903 | G | GTGTTT | intron_variant | MODIFIER | HG00642.hp2 HG01261.hp2 HG02056.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005a0001c0001t0047 | a0001c0001t0004g0088a0001c0001t0004g0089a0001c0001t0004g0118others(6): Show | 9 | 224 | 0.0402 | 5 | c.141 others(24): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMS1_chr10_42777795_42839937 | 42837782 | C | CGTTTT | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00735.hp1 HG01069.hp2 others(3): Show |
a0001a0027 | a0001c0003a0001c0008a0001c0013others(1): Show | a0001c0003t0001a0001c0008t0007a0001c0008t0015others(2): Show | a0001c0003t0001g0007a0001c0008t0007g0161a0001c0008t0015g0166others(2): Show | 6 | 388 | 0.0155 | 5 | c.*66 others(16): Show |
BMS1 | ENSG00000165733.8 | transcript | ENST00000374518.6 | protein_coding | 2846 | chr10 | TogoVar | ||||||
BMT2_chr7_112814147_112944875 | 112874723 | A | AAAAAC | intron_variant | MODIFIER | HG01975.hp1 HG02809.hp2 HG03139.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065a0001c0001t0002g0066a0001c0001t0002g0067others(2): Show | 5 | 206 | 0.0243 | 5 | c.473 others(24): Show |
BMT2 | ENSG00000164603.12 | transcript | ENST00000297145.9 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
BMT2_chr7_112814147_112944875 | 112914276 | G | GTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG01106.hp2 HG01175.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0007 | a0001c0001t0002g0097a0001c0001t0004g0053a0001c0001t0007g0007others(5): Show | 8 | 206 | 0.0388 | 5 | c.302 others(22): Show |
BMT2 | ENSG00000164603.12 | transcript | ENST00000297145.9 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
BMT2_chr7_112814147_112944875 | 112942356 | A | ATTTAT | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00438.hp2 HG00733.hp1 others(59): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0075a0001c0001t0001g0127a0001c0001t0001g0131others(58): Show | 62 | 206 | 0.3010 | 5 | c.-26 others(16): Show |
BMT2 | ENSG00000164603.12 | transcript | ENST00000297145.9 | protein_coding | 2482 | chr7 | TogoVar | ||||||
BMX_chrX_15495807_15561519 | 15512351 | G | GATTTT | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp1 HG02647.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184a0001c0001t0001g0185a0001c0001t0001g0186others(5): Show | 8 | 216 | 0.0370 | 5 | c.325 others(20): Show |
BMX | ENSG00000102010.15 | transcript | ENST00000348343.11 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BMX_chrX_15495807_15561519 | 15542818 | G | GGTTCT | intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 | 1 | 216 | 0.0046 | 5 | c.161 others(22): Show |
BMX | ENSG00000102010.15 | transcript | ENST00000348343.11 | protein_coding | 15/18 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
BNC1_chr15_83250884_83289664 | 83272394 | C | CTTTTT | intron_variant | MODIFIER | HG00733.hp2 HG01109.hp1 HG01109.hp2 others(15): Show |
a0001a0009 | a0001c0001a0009c0009 | a0001c0001t0002a0001c0001t0004a0001c0001t0007others(1): Show | a0001c0001t0002g0046a0001c0001t0002g0051a0001c0001t0002g0053others(9): Show | 18 | 304 | 0.0592 | 5 | c.100 others(22): Show |
BNC1 | ENSG00000169594.14 | transcript | ENST00000345382.7 | protein_coding | 1/4 | chr15 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16539750 | G | GAAGGA | intron_variant | MODIFIER | HG00558.hp2 HG01099.hp1 HG01123.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0008 | a0001c0001t0001a0001c0001t0015a0001c0001t0019others(6): Show | a0001c0001t0001g0060a0001c0001t0015g0052a0001c0001t0019g0017others(6): Show | 9 | 176 | 0.0511 | 5 | c.669 others(24): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16539768 | A | AGAAAG | intron_variant | MODIFIER | HG00558.hp1 HG00621.hp1 HG02735.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0010a0001c0001t0030a0001c0001t0042others(4): Show | a0001c0001t0010g0166a0001c0001t0030g0105a0001c0001t0042g0059others(4): Show | 7 | 176 | 0.0398 | 5 | c.669 others(24): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16556655 | T | TTACTC | intron_variant | MODIFIER | HG01074.hp1 HG01109.hp1 HG01109.hp2 others(37): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0002a0001c0016others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(29): Show | a0001c0001t0001g0031a0001c0001t0001g0120a0001c0001t0003g0016others(37): Show | 40 | 176 | 0.2273 | 5 | c.434 others(22): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 4/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16556766 | C | CAAAAA | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02615.hp1 others(13): Show |
a0001a0005a0007others(1): Show | a0001c0001a0005c0006a0007c0013others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(8): Show | a0001c0001t0003g0016a0001c0001t0003g0063a0001c0001t0007g0065others(13): Show | 16 | 176 | 0.0909 | 5 | c.434 others(22): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 4/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16561564 | A | AAGATT | intron_variant | MODIFIER | HG01074.hp1 HG01099.hp2 HG01109.hp1 others(50): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(39): Show | a0001c0001t0001g0120a0001c0001t0001g0141a0001c0001t0002g0167others(50): Show | 53 | 176 | 0.3011 | 5 | c.434 others(22): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 4/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16564009 | T | TGTTAA | intron_variant | MODIFIER | HG02109.hp1 HG02559.hp2 HG02615.hp1 others(13): Show |
a0001a0005a0012 | a0001c0001a0001c0002a0005c0006others(1): Show | a0001c0001t0003a0001c0001t0007a0001c0001t0009others(8): Show | a0001c0001t0003g0016a0001c0001t0003g0063a0001c0001t0007g0065others(13): Show | 16 | 176 | 0.0909 | 5 | c.434 others(24): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 4/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16569003 | G | GTTTTT | intron_variant | MODIFIER | HG01123.hp1 HG01243.hp2 HG01361.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0008a0001c0001t0015others(5): Show | a0001c0001t0003g0046a0001c0001t0008g0174a0001c0001t0015g0052others(5): Show | 8 | 176 | 0.0455 | 5 | c.433 others(24): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 4/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16663130 | C | CTTTTT | intron_variant | MODIFIER | HG00438.hp1 HG02717.hp1 HG03098.hp1 others(7): Show |
a0001a0003 | a0001c0001a0003c0022 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(5): Show | a0001c0001t0002g0145a0001c0001t0002g0169a0001c0001t0008g0015others(7): Show | 10 | 176 | 0.0568 | 5 | c.330 others(24): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16665386 | A | AGAGAG | intron_variant | MODIFIER | HG03098.hp1 NA18948.hp1 |
a0001a0003 | a0001c0001a0003c0022 | a0001c0001t0002a0003c0022t0027 | a0001c0001t0002g0169a0003c0022t0027g0073 | 2 | 176 | 0.0114 | 5 | c.330 others(24): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16695862 | C | CAAGCA | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp2 others(58): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0015others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(46): Show | a0001c0001t0001g0038a0001c0001t0001g0048a0001c0001t0002g0145others(58): Show | 61 | 176 | 0.3466 | 5 | c.330 others(24): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16697600 | A | AATCCC | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp2 others(54): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0015others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(43): Show | a0001c0001t0001g0038a0001c0001t0001g0048a0001c0001t0002g0145others(54): Show | 57 | 176 | 0.3239 | 5 | c.330 others(24): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar |