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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BLOC1S5_chr6_8008567_8069389 | 8041655 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02895.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0007a0002c0002t0004 | a0001c0001t0003g0231a0001c0001t0007g0191a0001c0001t0007g0192others(4): Show | 7 | 364 | 0.0192 | 13 | c.196 others(28): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122267051 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01074.hp1 HG01106.hp1 HG01891.hp2 others(10): Show |
a0001a0005a0008others(1): Show | a0001c0001a0001c0007a0005c0010others(2): Show | a0001c0001t0001a0001c0001t0009a0001c0007t0001others(3): Show | a0001c0001t0001g0324a0001c0001t0001g0326a0001c0001t0001g0328others(10): Show | 13 | 336 | 0.0387 | 13 | c.749 others(30): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 46/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122321979 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01975.hp1 HG02004.hp2 others(9): Show |
a0001a0002a0010 | a0001c0001a0001c0003a0001c0032others(2): Show | a0001c0001t0001a0001c0003t0001a0001c0032t0001others(2): Show | a0001c0001t0001g0183a0001c0001t0001g0189a0001c0001t0001g0262others(9): Show | 12 | 336 | 0.0357 | 13 | c.109 others(34): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 64/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122346527 | A | ATAATTCA others(6): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 336 | 0.0030 | 13 | c.129 others(30): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 76/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34808346 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA19076.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0090 | 1 | 312 | 0.0032 | 13 | c.45- others(30): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34847921 | C | CTTTCTTT others(6): Show |
intron_variant | MODIFIER | HG00735.hp2 HG02738.hp2 |
a0005 | a0005c0005 | a0005c0005t0007 | a0005c0005t0007g0134a0005c0005t0007g0150 | 2 | 312 | 0.0064 | 13 | c.103 others(32): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3B_chr12_100032072_100147874 | 100140729 | A | ATATATAT others(6): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0011 | a0011c0011 | a0011c0011t0001 | a0011c0011t0001g0005 | 1 | 188 | 0.0053 | 13 | c.44+ others(28): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27360803 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | NA18952.hp1 NA19064.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0158a0001c0001t0004g0159 | 2 | 310 | 0.0065 | 13 | c.32- others(28): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BMERB1_chr16_15429588_15593259 | 15444123 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01069.hp2 HG01071.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0055a0001c0001t0001g0056a0001c0001t0001g0057others(13): Show | 16 | 291 | 0.0550 | 13 | c.106 others(30): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BMERB1_chr16_15429588_15593259 | 15444133 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA19087.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 291 | 0.0034 | 13 | c.106 others(30): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BMERB1_chr16_15429588_15593259 | 15550061 | T | TGCCTCAG others(6): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0254 | 1 | 291 | 0.0034 | 13 | c.231 others(32): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BMERB1_chr16_15429588_15593259 | 15591594 | A | ACACACAC others(6): Show |
downstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 291 | 0.0034 | 13 | c.*47 others(24): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3336 | chr16 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15591629 | A | ACACACAC others(6): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0158 | 1 | 291 | 0.0034 | 13 | c.*48 others(24): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3371 | chr16 | TogoVar | ||||||
BMF_chr15_40082890_40113879 | 40106517 | A | ACACACAC others(6): Show |
intron_variant | MODIFIER | HG02015.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0213 | 1 | 414 | 0.0024 | 13 | c.-5- others(26): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 2/4 | chr15 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78872303 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0008 | a0008c0014 | a0008c0014t0023 | a0008c0014t0023g0111 | 1 | 204 | 0.0049 | 13 | c.160 others(30): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 12/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP3_chr4_81025708_81062627 | 81032194 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02622.hp1 |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0031 | 2 | 382 | 0.0052 | 13 | c.316 others(28): Show |
BMP3 | ENSG00000152785.8 | transcript | ENST00000282701.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP5_chr6_55748653_55880590 | 55759144 | C | CACACACA others(6): Show |
intron_variant | MODIFIER | NA18954.hp1 NA19009.hp1 |
a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0107a0001c0004t0001g0110 | 2 | 320 | 0.0063 | 13 | c.110 others(28): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 5/6 | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7813086 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02922.hp2 HG03579.hp2 others(6): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0005 | a0001c0001t0001a0001c0001t0015a0001c0001t0026others(2): Show | a0001c0001t0001g0151a0001c0001t0001g0187a0001c0001t0001g0207others(6): Show | 9 | 308 | 0.0292 | 13 | c.665 others(32): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01496.hp1 HG01981.hp1 HG02523.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0003a0002c0003t0001others(1): Show | a0001c0001t0001g0204a0001c0001t0003g0120a0002c0003t0001g0236others(1): Show | 4 | 308 | 0.0130 | 13 | c.665 others(32): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0270 | 1 | 308 | 0.0033 | 13 | c.665 others(32): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01978.hp2 HG03017.hp2 NA18951.hp1 |
a0001a0002 | a0001c0010a0002c0003a0002c0004 | a0001c0010t0003a0002c0003t0001a0002c0004t0010 | a0001c0010t0003g0089a0002c0003t0001g0245a0002c0004t0010g0228 | 3 | 308 | 0.0097 | 13 | c.665 others(32): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7813108 | A | AAAAAAAT others(6): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0004 | a0004c0007 | a0004c0007t0002 | a0004c0007t0002g0077 | 1 | 308 | 0.0033 | 13 | c.665 others(32): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7856595 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0081 | 1 | 308 | 0.0033 | 13 | c.858 others(30): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMP6_chr6_7721099_7886728 | 7856610 | T | TTTTTTTG others(6): Show |
intron_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG03017.hp2 others(1): Show |
a0001a0002 | a0001c0010a0002c0015 | a0001c0010t0003a0002c0015t0003 | a0001c0010t0003g0089a0001c0010t0003g0104a0001c0010t0003g0106others(1): Show | 4 | 308 | 0.0130 | 13 | c.858 others(30): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86789872 | A | AAAGGCTG others(6): Show |
intron_variant | MODIFIER | HG01169.hp2 HG02293.hp2 |
a0002 | a0002c0001 | a0002c0001t0011 | a0002c0001t0011g0186a0002c0001t0011g0187 | 2 | 278 | 0.0072 | 13 | c.-26 others(34): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86790188 | A | AAATATAT others(6): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0178 | 1 | 278 | 0.0036 | 13 | c.-26 others(34): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86797247 | T | TTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00423.hp2 others(58): Show |
a0001a0002a0003 | a0001c0002a0001c0005a0002c0001others(1): Show | a0001c0002t0003a0001c0002t0004a0001c0002t0016others(13): Show | a0001c0002t0003g0048a0001c0002t0003g0065a0001c0002t0003g0068others(58): Show | 61 | 278 | 0.2194 | 13 | c.-26 others(34): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86799506 | C | CTTCCTTC others(6): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03486.hp2 HG03579.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0007a0001c0002t0065a0001c0002t0080others(1): Show | a0001c0002t0007g0269a0001c0002t0065g0251a0001c0002t0080g0172others(1): Show | 4 | 278 | 0.0144 | 13 | c.-26 others(34): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86835549 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01258.hp2 HG01433.hp2 NA18995.hp2 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0002a0002c0001t0018 | a0002c0001t0001g0202a0002c0001t0002g0244a0002c0001t0018g0116 | 3 | 278 | 0.0108 | 13 | c.-26 others(32): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86866399 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01192.hp1 |
a0001 | a0001c0002 | a0001c0002t0023 | a0001c0002t0023g0002a0001c0002t0023g0127a0001c0002t0023g0128 | 3 | 278 | 0.0108 | 13 | c.-15 others(32): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86868778 | G | GTGTTTTT others(6): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0156 | 1 | 278 | 0.0036 | 13 | c.-15 others(32): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86868778 | G | GTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02258.hp1 HG03239.hp2 HG03540.hp1 others(3): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0036a0001c0002t0037a0001c0002t0063others(3): Show | a0001c0002t0036g0070a0001c0002t0037g0160a0001c0002t0063g0213others(3): Show | 6 | 278 | 0.0216 | 13 | c.-15 others(32): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86884394 | A | ATTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0001 | a0002c0001t0011 | a0002c0001t0011g0241 | 1 | 278 | 0.0036 | 13 | c.68- others(28): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86906723 | C | CAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG03654.hp1 NA18966.hp2 |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0018 | a0002c0001t0001g0237a0002c0001t0018g0101 | 2 | 278 | 0.0072 | 13 | c.531 others(30): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86925721 | C | CTTTTTTT others(6): Show |
3_prime_UTR_variant | MODIFIER | HG00639.hp1 HG01081.hp1 HG01433.hp1 others(16): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0007a0001c0002t0033a0001c0002t0062others(8): Show | a0001c0002t0007g0026a0001c0002t0007g0027a0001c0002t0007g0031others(16): Show | 19 | 278 | 0.0684 | 13 | c.*20 others(24): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 13/13 | 2020 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||
BMPR1B_chr4_94752955_95163448 | 94908093 | A | AAAAAAAG others(6): Show |
intron_variant | MODIFIER | HG01515.hp1 HG03834.hp1 NA18946.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0146a0001c0001t0002g0043a0001c0001t0003g0145others(1): Show | 4 | 226 | 0.0177 | 13 | c.-11 others(34): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 95026102 | C | CTTTCTTT others(6): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0049 | 1 | 226 | 0.0044 | 13 | c.-18 others(32): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 95160621 | C | CCCTCCCT others(6): Show |
downstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0002 | a0001c0002t0021 | a0001c0002t0021g0217 | 1 | 226 | 0.0044 | 13 | c.*59 others(24): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 2174 | chr4 | TogoVar | ||||||
BMPR2_chr2_202371327_202572749 | 202384569 | T | TTTCTTTT others(6): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00735.hp1 HG01106.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(8): Show | a0001c0001t0001g0007a0001c0001t0001g0009a0001c0001t0001g0091others(21): Show | 24 | 224 | 0.1071 | 13 | c.76+ others(28): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMPR2_chr2_202371327_202572749 | 202485545 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01175.hp1 HG01243.hp1 HG01433.hp1 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(7): Show | a0001c0001t0001g0116a0001c0001t0005g0073a0001c0001t0005g0153others(21): Show | 24 | 224 | 0.1071 | 13 | c.418 others(32): Show |
BMPR2 | ENSG00000204217.16 | transcript | ENST00000374580.10 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BMT2_chr7_112814147_112944875 | 112865730 | A | ATTCATAT others(6): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02622.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0002a0001c0002t0008g0036a0001c0002t0008g0037 | 4 | 206 | 0.0194 | 13 | c.473 others(32): Show |
BMT2 | ENSG00000164603.12 | transcript | ENST00000297145.9 | protein_coding | 3/4 | chr7 | TogoVar | ||||||
BMT2_chr7_112814147_112944875 | 112899789 | G | GAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0034 | 1 | 206 | 0.0049 | 13 | c.303 others(30): Show |
BMT2 | ENSG00000164603.12 | transcript | ENST00000297145.9 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16404721 | A | AACTCTAA others(6): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG03098.hp1 |
a0001a0003 | a0001c0002a0003c0022 | a0001c0002t0027a0003c0022t0027 | a0001c0002t0027g0013a0003c0022t0027g0073 | 2 | 176 | 0.0114 | 13 | c.*14 others(26): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 4781 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16463294 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02809.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0007t0053 | a0001c0001t0001g0120a0001c0007t0053g0075 | 2 | 176 | 0.0114 | 13 | c.670 others(32): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 5/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16614958 | T | TAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0003 | a0003c0008 | a0003c0008t0100 | a0003c0008t0100g0072 | 1 | 176 | 0.0057 | 13 | c.331 others(32): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16630749 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG01074.hp1 others(85): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0005others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(63): Show | a0001c0001t0001g0002a0001c0001t0001g0029a0001c0001t0001g0048others(85): Show | 88 | 176 | 0.5000 | 13 | c.331 others(32): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16663121 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG02809.hp2 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0021 | a0001c0001t0019g0116a0001c0001t0021g0134 | 2 | 176 | 0.0114 | 13 | c.330 others(32): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16691504 | C | CTTTTTTT others(6): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0027 | 1 | 176 | 0.0057 | 13 | c.330 others(32): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16732162 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00558.hp2 others(77): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0007others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(56): Show | a0001c0001t0001g0021a0001c0001t0001g0053a0001c0001t0001g0060others(77): Show | 80 | 176 | 0.4546 | 13 | c.130 others(30): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
BNC2_chr9_16404503_16875670 | 16732162 | A | AAAAAAAA others(6): Show |
intron_variant | MODIFIER | HG02056.hp2 NA18968.hp1 NA19005.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0150a0001c0001t0002g0164a0001c0001t0005g0161 | 3 | 176 | 0.0171 | 13 | c.130 others(30): Show |
BNC2 | ENSG00000173068.19 | transcript | ENST00000380672.9 | protein_coding | 2/6 | chr9 | TogoVar |