| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BLK_chr8_11489387_11569599 | 11535261 | GAAGAAAG others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00597.hp1 others(14): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0014others(7): Show | a0001c0001t0001g0107a0001c0001t0001g0122a0001c0001t0001g0135others(14): Show | 17 | 308 | 0.0552 | -8 | c.-1- others(23): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| BLK_chr8_11489387_11569599 | 11560174 | GATGGATG others(1): Show |
G | intron_variant | MODIFIER | HG02280.hp1 HG02886.hp2 HG02896.hp1 others(2): Show |
a0001 | a0001c0001a0001c0006a0001c0011 | a0001c0001t0001a0001c0001t0005a0001c0006t0005others(1): Show | a0001c0001t0001g0235a0001c0001t0005g0217a0001c0006t0005g0082others(2): Show | 5 | 308 | 0.0162 | -8 | c.103 others(27): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| BLM_chr15_90712346_90821166 | 90734694 | CGCAGAGA others(1): Show |
C | intron_variant | MODIFIER | HG03486.hp1 NA18969.hp2 NA19057.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0002 | a0001c0001t0001g0048a0001c0002t0001g0159a0001c0002t0002g0160 | 3 | 280 | 0.0107 | -8 | c.-4- others(25): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | chr15 | TogoVar | ||||||
| BLM_chr15_90712346_90821166 | 90735236 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG01109.hp2 HG01346.hp1 others(24): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0009others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(9): Show | a0001c0001t0001g0070a0001c0001t0001g0072a0001c0001t0001g0103others(24): Show | 27 | 280 | 0.0964 | -8 | c.-4- others(25): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
| BLNK_chr10_96184171_96276569 | 96209371 | GATTTATT others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp2 HG00639.hp1 others(38): Show |
a0001a0004a0005 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(15): Show | a0001c0001t0001g0010a0001c0001t0001g0027a0001c0001t0001g0037others(38): Show | 41 | 322 | 0.1273 | -8 | c.746 others(23): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 9/16 | chr10 | TogoVar | ||||||
| BLNK_chr10_96184171_96276569 | 96265119 | CTTATTTA others(1): Show |
C | intron_variant | MODIFIER | HG02258.hp2 HG02717.hp2 HG02723.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0007a0001c0003t0001a0001c0003t0008others(1): Show | a0001c0001t0007g0045a0001c0003t0001g0294a0001c0003t0008g0295others(1): Show | 4 | 322 | 0.0124 | -8 | c.47+ others(23): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 1/16 | chr10 | TogoVar | ||||||
| BLOC1S3_chr19_45173784_45186800 | 45177191 | GCACACAC others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00621.hp2 NA18946.hp2 NA18961.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0002g0001a0001c0001t0003g0001 | 8 | 426 | 0.0188 | -8 | c.-16 others(19): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 1592 | chr19 | TogoVar | ||||||
| BLOC1S4_chr4_6711174_6722664 | 6721973 | GCACACAC others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00544.hp1 others(49): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0003g0000others(1): Show | 52 | 458 | 0.1135 | -8 | c.*51 others(19): Show |
BLOC1S4 | ENSG00000186222.5 | transcript | ENST00000320776.5 | protein_coding | 4310 | chr4 | TogoVar | ||||||
| BLOC1S5_chr6_8008567_8069389 | 8019073 | CATATTCA others(1): Show |
C | intron_variant | MODIFIER | HG02080.hp2 HG02155.hp2 NA18967.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033a0001c0001t0001g0038a0001c0001t0001g0040others(3): Show | 6 | 364 | 0.0165 | -8 | c.385 others(25): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 4/4 | chr6 | TogoVar | ||||||
| BLOC1S5_chr6_8008567_8069389 | 8047160 | TCACACAC others(1): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00609.hp1 HG00733.hp1 others(35): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0033a0001c0001t0001g0057a0001c0001t0001g0067others(34): Show | 38 | 364 | 0.1044 | -8 | c.196 others(25): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
| BLTP1_chr4_122147331_122367752 | 122216085 | GTCTATCT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG01069.hp2 others(26): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0008others(8): Show | a0001c0001t0001g0102a0001c0001t0001g0124a0001c0001t0001g0182others(25): Show | 29 | 336 | 0.0863 | -8 | c.224 others(27): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 20/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BLTP1_chr4_122147331_122367752 | 122288651 | CTAAATAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp1 HG01106.hp1 others(18): Show |
a0001a0003a0005 | a0001c0001a0001c0005a0001c0007others(3): Show | a0001c0001t0001a0001c0005t0002a0001c0007t0001others(3): Show | a0001c0001t0001g0102a0001c0001t0001g0119a0001c0001t0001g0121others(17): Show | 21 | 336 | 0.0625 | -8 | c.928 others(25): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 53/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BLTP1_chr4_122147331_122367752 | 122338138 | ATGAGGGT others(1): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG01168.hp2 others(25): Show |
a0002a0006a0010others(2): Show | a0002c0004a0002c0043a0006c0014others(3): Show | a0002c0004t0001a0002c0043t0001a0006c0014t0001others(3): Show | a0002c0004t0001g0049a0002c0004t0001g0127a0002c0004t0001g0128others(25): Show | 28 | 336 | 0.0833 | -8 | c.124 others(29): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 73/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BLTP3B_chr12_100032072_100147874 | 100048771 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02486.hp1 HG03195.hp1 HG03540.hp2 others(1): Show |
a0001a0002a0011 | a0001c0001a0002c0003a0011c0011 | a0001c0001t0001a0002c0003t0001a0011c0011t0001 | a0001c0001t0001g0067a0002c0003t0001g0017a0011c0011t0001g0004others(1): Show | 4 | 188 | 0.0213 | -8 | c.371 others(25): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 17/20 | chr12 | TogoVar | ||||||
| BLTP3B_chr12_100032072_100147874 | 100098943 | CACATAGA others(1): Show |
C | intron_variant | MODIFIER | NA21309.hp1 NA21309.hp2 |
a0001a0014 | a0001c0001a0014c0018 | a0001c0001t0001a0014c0018t0001 | a0001c0001t0001g0110a0014c0018t0001g0070 | 2 | 188 | 0.0106 | -8 | c.339 others(23): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 4/20 | chr12 | TogoVar | ||||||
| BLTP3B_chr12_100032072_100147874 | 100109159 | CCTCTCTC others(1): Show |
C | intron_variant | MODIFIER | HG01167.hp2 HG01243.hp1 HG01981.hp2 others(11): Show |
a0001a0002a0006others(3): Show | a0001c0001a0002c0003a0006c0007others(3): Show | a0001c0001t0001a0002c0003t0001a0006c0007t0001others(3): Show | a0001c0001t0001g0064a0001c0001t0001g0065a0001c0001t0001g0067others(11): Show | 14 | 188 | 0.0745 | -8 | c.45- others(21): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
| BLTP3B_chr12_100032072_100147874 | 100124936 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02818.hp1 HG03453.hp2 others(1): Show |
a0001a0002a0016 | a0001c0001a0002c0003a0016c0022 | a0001c0001t0001a0002c0003t0001a0016c0022t0001 | a0001c0001t0001g0116a0002c0003t0001g0011a0002c0003t0001g0012others(1): Show | 4 | 188 | 0.0213 | -8 | c.45- others(25): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
| BLTP3B_chr12_100032072_100147874 | 100130982 | GGAGAGAG others(1): Show |
G | intron_variant | MODIFIER | HG01952.hp1 HG02129.hp1 HG02965.hp2 |
a0001a0018 | a0001c0001a0018c0019 | a0001c0001t0001a0018c0019t0001 | a0001c0001t0001g0073a0001c0001t0001g0083a0018c0019t0001g0107 | 3 | 188 | 0.0160 | -8 | c.44+ others(25): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
| BLVRB_chr19_40442768_40470745 | 40457656 | CTATAAAT others(1): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00597.hp1 HG00639.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0098a0001c0001t0001g0099others(37): Show | 50 | 362 | 0.1381 | -8 | c.334 others(23): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
| BLVRB_chr19_40442768_40470745 | 40460247 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00597.hp1 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003a0001c0001t0001g0093a0001c0001t0001g0098others(37): Show | 50 | 362 | 0.1381 | -8 | c.80- others(23): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 1/4 | chr19 | TogoVar | ||||||
| BLZF1_chr1_169363195_169393305 | 169375393 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02922.hp2 HG03209.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046a0001c0001t0001g0127a0001c0001t0001g0132 | 4 | 366 | 0.0109 | -8 | c.29- others(23): Show |
BLZF1 | ENSG00000117475.14 | transcript | ENST00000367808.8 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| BMAL1_chr11_13272790_13392266 | 13363127 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG02148.hp1 HG02809.hp1 HG03041.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0065a0001c0001t0001g0097others(6): Show | 9 | 314 | 0.0287 | -8 | c.460 others(25): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 9/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| BMERB1_chr16_15429588_15593259 | 15529015 | GTGTTTGT others(1): Show |
G | intron_variant | MODIFIER | HG01891.hp2 HG02809.hp2 HG03139.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0013 | a0001c0001t0001g0258a0001c0001t0013g0264a0001c0001t0013g0265 | 3 | 291 | 0.0103 | -8 | c.230 others(27): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| BMP1_chr8_22160372_22206482 | 22174627 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp2 others(27): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0001a0001c0002t0001a0004c0007t0001 | a0001c0001t0001g0002a0001c0001t0001g0010a0001c0001t0001g0026others(24): Show | 30 | 418 | 0.0718 | -8 | c.262 others(23): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| BMP1_chr8_22160372_22217326 | 22174627 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00558.hp2 others(28): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0001c0005others(4): Show | a0001c0001t0001a0001c0002t0002a0001c0005t0001others(5): Show | a0001c0001t0001g0017a0001c0001t0001g0031a0001c0001t0001g0032others(27): Show | 31 | 408 | 0.0760 | -8 | c.262 others(23): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| BMP2K_chr4_78771350_78921365 | 78801344 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01884.hp1 HG01891.hp2 others(27): Show |
a0001a0002a0005others(3): Show | a0001c0001a0001c0006a0001c0024others(6): Show | a0001c0001t0006a0001c0006t0004a0001c0024t0022others(9): Show | a0001c0001t0006g0030a0001c0001t0006g0034a0001c0006t0004g0045others(27): Show | 30 | 204 | 0.1471 | -8 | c.178 others(27): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BMP2K_chr4_78771350_78921365 | 78873658 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG02976.hp1 HG03579.hp2 |
a0001a0005 | a0001c0001a0005c0004 | a0001c0001t0003a0005c0004t0013 | a0001c0001t0003g0017a0005c0004t0013g0108 | 2 | 204 | 0.0098 | -8 | c.179 others(25): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 13/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BMP2_chr20_6762686_6785246 | 6780979 | GGAGGTTA others(1): Show |
G | downstream_gene_variant | MODIFIER | HG00438.hp1 HG02040.hp2 HG02056.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0024a0001c0001t0001g0045others(1): Show | 7 | 464 | 0.0151 | -8 | c.*18 others(19): Show |
BMP2 | ENSG00000125845.7 | transcript | ENST00000378827.5 | protein_coding | 734 | chr20 | TogoVar | ||||||
| BMP3_chr4_81025708_81062627 | 81032194 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01106.hp2 HG01943.hp2 others(14): Show |
a0001a0005a0010 | a0001c0001a0005c0006a0010c0015 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(3): Show | a0001c0001t0001g0178a0001c0001t0004g0182a0001c0001t0004g0183others(8): Show | 17 | 382 | 0.0445 | -8 | c.316 others(23): Show |
BMP3 | ENSG00000152785.8 | transcript | ENST00000282701.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| BMP4_chr14_53944736_53961825 | 53955280 | GCCCGGGT others(1): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG01069.hp1 HG01071.hp2 others(26): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0011a0002c0002t0002others(4): Show | a0001c0001t0001g0047a0001c0001t0001g0095a0001c0001t0001g0114others(8): Show | 29 | 454 | 0.0639 | -8 | c.-13 others(27): Show |
BMP4 | ENSG00000125378.16 | transcript | ENST00000245451.9 | protein_coding | 1/3 | chr14 | TogoVar | ||||||
| BMP5_chr6_55748653_55880590 | 55751778 | CGTGTGTG others(1): Show |
C | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp2 HG00544.hp1 others(47): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0023others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0158a0001c0001t0001g0159others(46): Show | 50 | 320 | 0.1563 | -8 | c.*37 others(19): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1874 | chr6 | TogoVar | ||||||
| BMP5_chr6_55748653_55880590 | 55759176 | AAAAAAAA others(1): Show |
A | intron_variant | MODIFIER | HG00558.hp1 HG02071.hp2 HG02080.hp1 others(5): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0001 | a0001c0003t0001g0162a0001c0003t0001g0163a0001c0003t0001g0171others(5): Show | 8 | 320 | 0.0250 | -8 | c.110 others(23): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 5/6 | chr6 | TogoVar | ||||||
| BMP5_chr6_55748653_55880590 | 55773495 | CTGTGTGT others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01891.hp2 HG02451.hp2 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(5): Show | a0001c0001t0001g0198a0001c0001t0005g0311a0001c0001t0006g0277others(9): Show | 12 | 320 | 0.0375 | -8 | c.102 others(25): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 4/6 | chr6 | TogoVar | ||||||
| BMP5_chr6_55748653_55880590 | 55820717 | GTTGTTTG others(1): Show |
G | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00621.hp2 others(55): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0198a0001c0001t0001g0260a0001c0001t0002g0219others(55): Show | 58 | 320 | 0.1813 | -8 | c.491 others(23): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
| BMP5_chr6_55748653_55880590 | 55837335 | TTAGATAG others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG01192.hp1 HG01975.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0002others(1): Show | a0001c0001t0002g0250a0001c0002t0001g0039a0001c0002t0001g0080others(12): Show | 15 | 320 | 0.0469 | -8 | c.491 others(27): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
| BMP5_chr6_55748653_55880590 | 55850350 | GTAGGTAG others(1): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(15): Show | a0001c0001t0001g0198a0001c0001t0001g0205a0001c0001t0001g0208others(38): Show | 41 | 320 | 0.1281 | -8 | c.490 others(27): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | ||||||
| BMP6_chr6_7721099_7886728 | 7790514 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG01346.hp2 HG01358.hp1 HG01433.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0008 | a0001c0001t0009a0001c0002t0002a0002c0008t0001 | a0001c0001t0009g0306a0001c0002t0002g0088a0001c0002t0002g0093others(3): Show | 6 | 308 | 0.0195 | -8 | c.665 others(27): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| BMP6_chr6_7721099_7886728 | 7791986 | TTGGATGG others(1): Show |
T | intron_variant | MODIFIER | HG00639.hp2 HG01081.hp1 HG01109.hp2 others(12): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0009others(9): Show | a0001c0001t0001g0037a0001c0001t0001g0042a0001c0001t0001g0044others(12): Show | 15 | 308 | 0.0487 | -8 | c.665 others(27): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| BMP6_chr6_7721099_7886728 | 7800079 | GGTGTGTG others(1): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG01167.hp1 HG01192.hp1 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0009others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0142a0001c0001t0001g0158a0001c0001t0001g0222others(18): Show | 21 | 308 | 0.0682 | -8 | c.665 others(27): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| BMP6_chr6_7721099_7886728 | 7822897 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01891.hp2 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(1): Show | a0001c0001t0001g0117a0001c0001t0003g0074a0001c0002t0002g0102others(2): Show | 5 | 308 | 0.0162 | -8 | c.665 others(27): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| BMP7_chr20_57163753_57271641 | 57207811 | GTTTTTTT others(1): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG01255.hp1 HG01891.hp1 others(6): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0025a0001c0002t0001others(2): Show | a0001c0001t0013g0261a0001c0001t0013g0262a0001c0001t0025g0246others(5): Show | 9 | 272 | 0.0331 | -8 | c.612 others(25): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | ||||||
| BMP7_chr20_57163753_57271641 | 57209247 | TTTTATAT others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG02615.hp1 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0048a0001c0001t0002g0032a0001c0001t0004g0249 | 3 | 272 | 0.0110 | -8 | c.612 others(25): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | ||||||
| BMP7_chr20_57163753_57271641 | 57209249 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG02976.hp2 HG03098.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0026a0001c0001t0003g0031a0001c0001t0003g0043others(3): Show | 6 | 272 | 0.0221 | -8 | c.612 others(25): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | ||||||
| BMP7_chr20_57163753_57271641 | 57232852 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00738.hp2 HG00741.hp2 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0022a0001c0001t0001g0025a0001c0001t0001g0034others(38): Show | 41 | 272 | 0.1507 | -8 | c.419 others(25): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 1/6 | chr20 | TogoVar | ||||||
| BMP7_chr20_57163753_57271641 | 57269737 | CGAATGAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG01071.hp2 HG01257.hp2 HG01515.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0061a0001c0001t0001g0149a0001c0001t0001g0155others(4): Show | 7 | 272 | 0.0257 | -8 | c.-36 others(19): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 3097 | chr20 | TogoVar | ||||||
| BMPER_chr7_33900539_34161427 | 34020859 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG01070.hp2 others(22): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(13): Show | a0001c0001t0001g0051a0001c0001t0004g0093a0001c0001t0006g0079others(22): Show | 25 | 232 | 0.1078 | -8 | c.577 others(27): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BMPER_chr7_33900539_34161427 | 34024384 | AATATATA others(1): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG02735.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0017a0001c0001t0026a0001c0002t0001others(1): Show | a0001c0001t0017g0101a0001c0001t0026g0125a0001c0002t0001g0043others(1): Show | 4 | 232 | 0.0172 | -8 | c.577 others(27): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BMPER_chr7_33900539_34161427 | 34031883 | CATATATA others(1): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG01243.hp1 HG01884.hp2 others(16): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0031others(9): Show | a0001c0001t0001g0099a0001c0001t0001g0138a0001c0001t0001g0186others(16): Show | 19 | 232 | 0.0819 | -8 | c.577 others(27): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BMPER_chr7_33900539_34161427 | 34039603 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG00741.hp1 HG02897.hp1 HG03098.hp2 others(1): Show |
a0001a0006 | a0001c0001a0001c0004a0001c0007others(1): Show | a0001c0001t0003a0001c0004t0013a0001c0007t0001others(1): Show | a0001c0001t0003g0030a0001c0004t0013g0211a0001c0007t0001g0025others(1): Show | 4 | 232 | 0.0172 | -8 | c.577 others(25): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BMPER_chr7_33900539_34161427 | 34065199 | ACTCACTC others(1): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02895.hp2 HG03540.hp2 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0006a0001c0003t0007 | a0001c0002t0001g0087a0001c0002t0006g0024a0001c0003t0007g0105 | 3 | 232 | 0.0129 | -8 | c.107 others(27): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |