view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | ac | an | af | len | hgvs_c | hgvs_p | genename | geneid | featuretype | featureid | transcript_biotype | rank | cdna cdna pos length
|
cds cds pos length
|
aa aa pos length
|
distance | status | chr | external |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BLTP1_chr4_122147331_122367752 | 122159477 | TTTTTA | T | intron_variant | MODIFIER | HG01106.hp2 HG01257.hp2 HG01258.hp2 others(8): Show |
a0001 | a0001c0005a0001c0019 | a0001c0005t0001a0001c0019t0001 | a0001c0005t0001g0105 a0001c0005t0001g0106 a0001c0005t0001g0107 others(7): Show |
11 | 334 | 0.0329 | -5 | c.-34 others(22): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 2/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122200991 | CTAACA | C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00597.hp2 others(60): Show |
a0001a0013 | a0001c0001a0001c0003a0001c0034others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(3): Show | a0001c0001t0001g0143 a0001c0001t0001g0174 a0001c0001t0001g0181 others(60): Show |
63 | 334 | 0.1886 | -5 | c.138 others(20): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 14/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122231539 | GTTTGT | G | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02572.hp2 others(9): Show |
a0003a0008 | a0003c0006a0008c0011 | a0003c0006t0001a0008c0011t0001a0008c0011t0007 | a0003c0006t0001g0011 a0003c0006t0001g0038 a0003c0006t0001g0040 others(9): Show |
12 | 334 | 0.0359 | -5 | c.332 others(24): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 26/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122290805 | AAAAAT | A | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02572.hp2 others(9): Show |
a0003a0008 | a0003c0006a0008c0011 | a0003c0006t0001a0008c0011t0001a0008c0011t0007 | a0003c0006t0001g0011 a0003c0006t0001g0038 a0003c0006t0001g0040 others(9): Show |
12 | 334 | 0.0359 | -5 | c.938 others(24): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 54/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122330452 | TTTTGG | T | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG01168.hp2 others(27): Show |
a0001a0002a0006others(3): Show | a0001c0001a0002c0004a0002c0043others(4): Show | a0001c0001t0001a0002c0004t0001a0002c0043t0001others(4): Show | a0001c0001t0001g0141 a0001c0001t0001g0155 a0002c0004t0001g0049 others(27): Show |
30 | 334 | 0.0898 | -5 | c.115 others(24): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 68/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34816388 | TGAGCC | T | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp2 HG00438.hp2 others(158): Show |
a0002a0003a0004others(12): Show | a0002c0002a0002c0032a0003c0003others(18): Show | a0002c0002t0002a0002c0002t0023a0002c0002t0029others(47): Show | a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 others(155): Show |
161 | 310 | 0.5194 | -5 | c.45- others(20): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34838339 | TGAAAA | T | intron_variant | MODIFIER | HG02818.hp1 HG02895.hp2 HG02897.hp1 |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0269 a0001c0001t0015g0270 a0001c0001t0015g0271 |
3 | 310 | 0.0097 | -5 | c.103 others(24): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34846077 | TCCCTC | T | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00673.hp1 others(54): Show |
a0003a0005a0006others(3): Show | a0003c0003a0003c0022a0003c0027others(5): Show | a0003c0003t0003a0003c0003t0011a0003c0003t0012others(16): Show | a0003c0003t0003g0004 a0003c0003t0003g0005 a0003c0003t0003g0007 others(52): Show |
57 | 209 | 0.2727 | -5 | c.103 others(24): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34852533 | CCCTCT | C | intron_variant | MODIFIER | HG00544.hp2 HG00738.hp1 HG01106.hp1 others(30): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0025a0002c0002t0002others(10): Show | a0001c0001t0001g0199 a0001c0001t0001g0217 a0001c0001t0001g0234 others(30): Show |
33 | 257 | 0.1284 | -5 | c.103 others(24): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 8/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3A_chr6_34787083_34882514 | 34869640 | CTTTTT | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp2 HG00544.hp2 others(38): Show |
a0002a0013a0015 | a0002c0002a0002c0032a0013c0031others(1): Show | a0002c0002t0002a0002c0002t0023a0002c0002t0043others(3): Show | a0002c0002t0002g0048 a0002c0002t0002g0049 a0002c0002t0002g0050 others(38): Show |
41 | 129 | 0.3178 | -5 | c.371 others(24): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 17/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BLTP3B_chr12_100032072_100147874 | 100040730 | TGAAAC | T | intron_variant | MODIFIER | HG02145.hp2 HG02257.hp1 HG02280.hp2 others(11): Show |
a0002a0016a0021 | a0002c0003a0016c0022a0021c0026 | a0002c0003t0001a0016c0022t0001a0021c0026t0001 | a0002c0003t0001g0007 a0002c0003t0001g0008 a0002c0003t0001g0009 others(11): Show |
14 | 186 | 0.0753 | -5 | c.408 others(22): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 19/20 | chr12 | TogoVar | |||||||
BLTP3B_chr12_100032072_100147874 | 100104884 | CAAAAA | C | intron_variant | MODIFIER | HG00673.hp2 HG01243.hp1 HG02257.hp1 others(19): Show |
a0001a0002a0004others(5): Show | a0001c0004a0002c0003a0004c0005others(6): Show | a0001c0004t0001a0002c0003t0001a0004c0005t0001others(6): Show | a0001c0004t0001g0036 a0001c0004t0001g0037 a0001c0004t0001g0038 others(19): Show |
22 | 52 | 0.4231 | -5 | c.208 others(20): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 2/20 | chr12 | TogoVar | |||||||
BLVRA_chr7_43753680_43812342 | 43789680 | TCACAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00423.hp2 others(100): Show |
a0001a0004a0007 | a0001c0001a0001c0002a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0008 others(78): Show |
103 | 412 | 0.2500 | -5 | c.135 others(22): Show |
BLVRA | ENSG00000106605.11 | transcript | ENST00000265523.9 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BLVRA_chr7_43753680_43812342 | 43801622 | TGTTAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00544.hp2 others(33): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0004others(3): Show | a0001c0001t0001a0001c0002t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0063 a0001c0001t0001g0118 a0001c0002t0002g0244 others(24): Show |
36 | 412 | 0.0874 | -5 | c.460 others(22): Show |
BLVRA | ENSG00000106605.11 | transcript | ENST00000265523.9 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMAL1_chr11_13272790_13392266 | 13288990 | CAGATT | C | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp2 HG02109.hp1 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0022 a0001c0001t0001g0132 a0001c0001t0001g0305 others(6): Show |
9 | 312 | 0.0288 | -5 | c.-26 others(26): Show |
BMAL1 | ENSG00000133794.20 | transcript | ENST00000403290.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27336947 | CAAAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG00609.hp1 HG02132.hp2 others(45): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001 a0001c0001t0001g0009 a0001c0001t0001g0010 others(40): Show |
48 | 233 | 0.2060 | -5 | c.31+ others(20): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27348875 | TAAGTG | T | intron_variant | MODIFIER | HG00741.hp1 HG02055.hp1 HG02145.hp1 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0018others(1): Show | a0001c0001t0001g0239 a0001c0001t0001g0240 a0001c0001t0001g0242 others(15): Show |
18 | 308 | 0.0584 | -5 | c.31+ others(22): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27362180 | TTTTGA | T | intron_variant | MODIFIER | HG03017.hp1 HG03834.hp1 HG03942.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0036 | a0001c0001t0001g0012 a0001c0001t0001g0014 a0003c0003t0036g0013 |
3 | 308 | 0.0097 | -5 | c.32- others(20): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 1/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27377000 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(88): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0001g0005 a0001c0001t0001g0008 a0001c0001t0001g0097 others(85): Show |
91 | 228 | 0.3991 | -5 | c.326 others(20): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27399111 | TGGGAA | T | intron_variant | MODIFIER | HG02015.hp1 HG02735.hp2 HG03017.hp1 |
a0003 | a0003c0003 | a0003c0003t0020a0003c0003t0023a0003c0003t0036 | a0003c0003t0020g0209 a0003c0003t0023g0128 a0003c0003t0036g0013 |
3 | 308 | 0.0097 | -5 | c.920 others(22): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15498580 | TGGGAA | T | intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02717.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0016 a0001c0001t0001g0017 a0001c0001t0001g0018 others(3): Show |
6 | 290 | 0.0207 | -5 | c.107 others(24): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
BMF_chr15_40082890_40113879 | 40102416 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0157 a0001c0001t0001g0181 a0001c0001t0001g0185 others(16): Show |
19 | 192 | 0.0990 | -5 | c.453 others(22): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 4/4 | chr15 | TogoVar | |||||||
BMI1_chr10_22316099_22336484 | 22319103 | TTAATC | T | upstream_gene_variant | MODIFIER | NA18998.hp1 NA19057.hp2 NA19058.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 244 | 0.0123 | -5 | c.-26 others(16): Show |
BMI1 | ENSG00000168283.14 | transcript | ENST00000376663.8 | protein_coding | 1995 | chr10 | TogoVar | |||||||
BMP15_chrX_50905735_50921641 | 50916889 | AGCAGT | A | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01934.hp1 HG02257.hp1 others(3): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0002c0002t0002a0003c0003t0001 | a0002c0002t0001g0003 a0002c0002t0002g0012 a0003c0003t0001g0003 |
6 | 292 | 0.0205 | -5 | c.*28 others(14): Show |
BMP15 | ENSG00000130385.6 | transcript | ENST00000252677.4 | protein_coding | 249 | chrX | TogoVar | |||||||
BMP2K_chr4_78771350_78921365 | 78776040 | GCCCCC | G | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02647.hp1 others(14): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0012a0003c0005others(2): Show | a0001c0001t0006a0001c0012t0015a0003c0005t0008others(4): Show | a0001c0001t0006g0036 a0001c0001t0006g0045 a0001c0001t0006g0046 others(14): Show |
17 | 37 | 0.4595 | -5 | c.-50 others(14): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 309 | chr4 | TogoVar | |||||||
BMP2K_chr4_78771350_78921365 | 78776738 | AGGCTC | A | intron_variant | MODIFIER | HG00735.hp2 HG01358.hp1 HG01952.hp1 others(14): Show |
a0001a0004 | a0001c0001a0001c0018a0004c0003 | a0001c0001t0003a0001c0001t0017a0001c0001t0019others(2): Show | a0001c0001t0003g0004 a0001c0001t0003g0005 a0001c0001t0003g0006 others(14): Show |
17 | 202 | 0.0842 | -5 | c.178 others(18): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78829753 | ATCTTT | A | intron_variant | MODIFIER | HG02074.hp2 HG02280.hp1 NA18522.hp1 others(3): Show |
a0001a0002a0008 | a0001c0001a0002c0002a0008c0014 | a0001c0001t0001a0002c0002t0002a0008c0014t0024others(1): Show | a0001c0001t0001g0067 a0001c0001t0001g0074 a0002c0002t0002g0175 others(3): Show |
6 | 184 | 0.0326 | -5 | c.297 others(22): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78829787 | TTTCTC | T | intron_variant | MODIFIER | HG01358.hp2 HG01952.hp2 NA18944.hp2 others(3): Show |
a0001a0004a0010 | a0001c0001a0004c0003a0010c0009 | a0001c0001t0001a0004c0003t0001a0010c0009t0001 | a0001c0001t0001g0078 a0001c0001t0001g0080 a0001c0001t0001g0089 others(3): Show |
6 | 120 | 0.0500 | -5 | c.297 others(22): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78833239 | GTTATT | G | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00423.hp2 others(61): Show |
a0001a0002a0006others(1): Show | a0001c0006a0002c0002a0002c0019others(3): Show | a0001c0006t0004a0002c0002t0002a0002c0002t0007others(5): Show | a0001c0006t0004g0047 a0001c0006t0004g0139 a0001c0006t0004g0140 others(61): Show |
64 | 202 | 0.3168 | -5 | c.298 others(20): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78837074 | ATTTTC | A | intron_variant | MODIFIER | HG02258.hp1 HG02647.hp2 HG02886.hp1 others(5): Show |
a0001a0005a0013 | a0001c0001a0001c0012a0005c0004others(1): Show | a0001c0001t0006a0001c0012t0015a0005c0004t0006others(1): Show | a0001c0001t0006g0032 a0001c0001t0006g0036 a0001c0001t0006g0045 others(5): Show |
8 | 202 | 0.0396 | -5 | c.403 others(22): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78848903 | TAGCTC | T | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01167.hp1 others(21): Show |
a0001a0003a0005others(1): Show | a0001c0001a0001c0012a0003c0005others(2): Show | a0001c0001t0006a0001c0001t0010a0001c0012t0015others(4): Show | a0001c0001t0006g0032 a0001c0001t0006g0036 a0001c0001t0006g0045 others(20): Show |
24 | 202 | 0.1188 | -5 | c.750 others(22): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78897438 | TAATTG | T | intron_variant | MODIFIER | HG02145.hp1 HG02280.hp2 HG02622.hp2 others(9): Show |
a0005 | a0005c0004 | a0005c0004t0001a0005c0004t0005a0005c0004t0013others(1): Show | a0005c0004t0001g0099 a0005c0004t0005g0026 a0005c0004t0005g0028 others(9): Show |
12 | 202 | 0.0594 | -5 | c.206 others(26): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78918230 | ATATTT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(105): Show |
a0001a0003a0004others(8): Show | a0001c0001a0001c0017a0001c0022others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(21): Show | a0001c0001t0001g0003 a0001c0001t0001g0048 a0001c0001t0001g0050 others(104): Show |
108 | 202 | 0.5347 | -5 | c.*61 others(16): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 1866 | chr4 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55759144 | CAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00597.hp1 others(45): Show |
a0001a0004a0006 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(10): Show | a0001c0001t0001g0154 a0001c0001t0001g0158 a0001c0001t0001g0191 others(45): Show |
48 | 123 | 0.3902 | -5 | c.110 others(20): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 5/6 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55850375 | TAGATA | T | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02886.hp1 others(5): Show |
a0001a0006 | a0001c0002a0006c0015 | a0001c0002t0001a0001c0002t0002a0001c0002t0010others(3): Show | a0001c0002t0001g0132 a0001c0002t0002g0054 a0001c0002t0010g0032 others(5): Show |
8 | 315 | 0.0254 | -5 | c.490 others(24): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55853138 | TAAATA | T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00621.hp1 others(36): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0002 a0001c0001t0001g0152 a0001c0001t0001g0158 others(35): Show |
39 | 59 | 0.6610 | -5 | c.490 others(24): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
BMP6_chr6_7721099_7886728 | 7737496 | ACCAAC | A | intron_variant | MODIFIER | HG00408.hp1 HG01069.hp2 HG01981.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0003a0003c0005t0006 | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0126 others(4): Show |
7 | 306 | 0.0229 | -5 | c.664 others(22): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
BMP6_chr6_7721099_7886728 | 7778471 | ATGTGT | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00544.hp1 others(100): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0010others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(21): Show | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(100): Show |
103 | 306 | 0.3366 | -5 | c.664 others(24): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7784263 | ACTTAT | A | intron_variant | MODIFIER | HG02717.hp2 HG03098.hp1 HG03225.hp2 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0003a0004c0007t0002a0004c0007t0003 | a0001c0001t0003g0078 a0004c0007t0002g0077 a0004c0007t0003g0076 |
3 | 306 | 0.0098 | -5 | c.664 others(24): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7813665 | AAAAAC | A | intron_variant | MODIFIER | HG00544.hp2 HG02145.hp1 HG04228.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0011a0001c0002t0002others(3): Show | a0001c0001t0001g0202 a0001c0001t0011g0048 a0001c0002t0002g0203 others(3): Show |
6 | 306 | 0.0196 | -5 | c.665 others(24): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | chr6 | TogoVar | |||||||
BMP6_chr6_7721099_7886728 | 7816721 | CTTTGT | C | intron_variant | MODIFIER | HG02055.hp2 HG02976.hp2 HG03225.hp2 others(1): Show |
a0001a0004 | a0001c0001a0001c0019a0004c0007 | a0001c0001t0024a0001c0019t0037a0004c0007t0002 | a0001c0001t0024g0298 a0001c0019t0037g0073 a0004c0007t0002g0056 others(1): Show |
4 | 305 | 0.0131 | -5 | c.665 others(24): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7822895 | GGTTGT | G | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03209.hp2 others(2): Show |
a0003 | a0003c0005 | a0003c0005t0008a0003c0005t0034 | a0003c0005t0008g0010 a0003c0005t0008g0011 a0003c0005t0008g0012 others(2): Show |
5 | 280 | 0.0179 | -5 | c.665 others(24): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP7_chr20_57163753_57271641 | 57173646 | CATAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(142): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(14): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0025 others(139): Show |
145 | 270 | 0.5370 | -5 | c.103 others(22): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 5/6 | chr20 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57207811 | GTTTTT | G | intron_variant | MODIFIER | HG00280.hp1 HG01109.hp2 HG01175.hp2 others(10): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0105 a0001c0001t0001g0115 a0001c0001t0002g0183 others(10): Show |
13 | 91 | 0.1429 | -5 | c.612 others(22): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | |||||||
BMP8B_chr1_39752182_39793865 | 39767223 | TGACTA | T | intron_variant | MODIFIER | HG00597.hp2 HG00609.hp2 HG00621.hp2 others(24): Show |
a0004a0010 | a0004c0006a0004c0012a0010c0017 | a0004c0006t0005a0004c0012t0005a0010c0017t0038 | a0004c0006t0005g0008 a0004c0006t0005g0221 a0004c0006t0005g0222 others(15): Show |
27 | 428 | 0.0631 | -5 | c.674 others(22): Show |
BMP8B | ENSG00000116985.12 | transcript | ENST00000372827.8 | protein_coding | 3/6 | chr1 | TogoVar | |||||||
BMPER_chr7_33900539_34161427 | 33940860 | ATATAT | A | intron_variant | MODIFIER | HG03225.hp2 NA19030.hp1 |
a0001 | a0001c0001a0001c0011 | a0001c0001t0003a0001c0011t0023 | a0001c0001t0003g0007 a0001c0011t0023g0221 |
2 | 230 | 0.0087 | -5 | c.319 others(22): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34065243 | TCTCTC | T | intron_variant | MODIFIER | HG01255.hp2 HG02300.hp2 NA18941.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0010a0001c0002t0005a0001c0003t0011others(1): Show | a0001c0001t0010g0223 a0001c0002t0005g0069 a0001c0003t0011g0115 others(1): Show |
4 | 223 | 0.0179 | -5 | c.107 others(24): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86790189 | ATATAT | A | intron_variant | MODIFIER | HG02055.hp2 HG02965.hp1 HG02976.hp2 others(1): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0061a0001c0002t0081a0001c0003t0056others(1): Show | a0001c0002t0061g0165 a0001c0002t0081g0168 a0001c0003t0056g0205 others(1): Show |
4 | 209 | 0.0191 | -5 | c.-26 others(26): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | chr10 | TogoVar | |||||||
BMPR1A_chr10_86751619_86932969 | 86799506 | CTTTCT | C | intron_variant | MODIFIER | HG01081.hp1 HG01433.hp1 HG01891.hp2 others(22): Show |
a0001a0002 | a0001c0002a0001c0006a0002c0001 | a0001c0002t0003a0001c0002t0004a0001c0002t0007others(10): Show | a0001c0002t0003g0084 a0001c0002t0003g0085 a0001c0002t0003g0091 others(22): Show |
25 | 253 | 0.0988 | -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 | 86904977 | TTGAAC | T | intron_variant | MODIFIER | HG00621.hp2 NA19010.hp1 NA19060.hp2 others(1): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0020 a0002c0001t0002g0021 a0002c0001t0002g0022 others(1): Show |
4 | 276 | 0.0145 | -5 | c.530 others(22): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |