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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BMF_chr15_40082890_40113879 | 40102416 | C | CAAA | intron_variant | MODIFIER | HG04115.hp1 NA18981.hp1 NA18989.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0045 a0001c0001t0002g0046 a0001c0001t0003g0054 others(3): Show |
6 | 414 | 0.0145 | 3 | c.453 others(20): Show |
BMF | ENSG00000104081.14 | transcript | ENST00000354670.9 | protein_coding | 4/4 | chr15 | TogoVar | |||||||
BMP15_chrX_50905735_50921641 | 50916210 | C | CTCT | disruptive_inframe_insertion | MODERATE | HG00544.hp2 HG00735.hp1 HG01081.hp2 others(57): Show |
a0002a0003a0006 | a0002c0002a0002c0007a0003c0003others(1): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(5): Show | a0002c0002t0001g0003 a0002c0002t0001g0004 a0002c0002t0001g0006 others(15): Show |
60 | 294 | 0.2041 | 3 | c.786 others(10): Show |
p.Leu others(6): Show |
BMP15 | ENSG00000130385.6 | transcript | ENST00000252677.4 | protein_coding | 2/2 | 838/1262 | 789/1179 | 263/392 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||
BMP1_chr8_22160372_22206482 | 22174627 | C | CTTT | intron_variant | MODIFIER | HG00621.hp2 HG02486.hp2 HG02809.hp1 others(5): Show |
a0001a0009 | a0001c0001a0001c0002a0009c0013 | a0001c0001t0001a0001c0002t0001a0009c0013t0001 | a0001c0001t0001g0018 a0001c0001t0001g0228 a0001c0001t0001g0300 others(5): Show |
8 | 418 | 0.0191 | 3 | c.262 others(18): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22206482 | 22183591 | A | AATT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(44): Show |
a0001a0007a0008others(1): Show | a0001c0001a0001c0002a0007c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0018 a0001c0001t0001g0130 a0001c0001t0001g0156 others(43): Show |
47 | 418 | 0.1124 | 3 | c.107 others(22): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306349.13 | protein_coding | 8/15 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22174627 | C | CTTT | intron_variant | MODIFIER | HG00621.hp2 HG02486.hp2 HG02809.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0219 a0001c0001t0001g0253 others(5): Show |
8 | 408 | 0.0196 | 3 | c.262 others(18): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22183591 | A | AATT | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00639.hp2 others(45): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(12): Show | a0001c0001t0001g0009 a0001c0001t0001g0113 a0001c0001t0001g0141 others(45): Show |
48 | 408 | 0.1177 | 3 | c.107 others(22): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP1_chr8_22160372_22217326 | 22210359 | C | CTCT | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp2 HG01081.hp1 others(17): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0036others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0036t0001others(1): Show | a0001c0001t0001g0028 a0001c0001t0001g0032 a0001c0001t0001g0054 others(17): Show |
20 | 408 | 0.0490 | 3 | c.282 others(20): Show |
BMP1 | ENSG00000168487.20 | transcript | ENST00000306385.10 | protein_coding | 19/19 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78776040 | G | GCCC | upstream_gene_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02486.hp2 others(9): Show |
a0001a0005a0010 | a0001c0001a0005c0004a0010c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(2): Show | a0001c0001t0001g0066 a0001c0001t0001g0080 a0001c0001t0001g0081 others(9): Show |
12 | 204 | 0.0588 | 3 | c.-50 others(12): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 309 | chr4 | TogoVar | |||||||
BMP2K_chr4_78771350_78921365 | 78779190 | A | AGCT | intron_variant | MODIFIER | HG01884.hp1 HG02630.hp1 HG03041.hp2 others(1): Show |
a0006 | a0006c0007a0006c0021 | a0006c0007t0012a0006c0021t0006 | a0006c0007t0012g0022 a0006c0007t0012g0146 a0006c0007t0012g0147 others(1): Show |
4 | 204 | 0.0196 | 3 | c.178 others(20): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78788895 | G | GTTT | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00621.hp1 others(48): Show |
a0001a0002a0006others(2): Show | a0001c0006a0001c0024a0002c0002others(5): Show | a0001c0006t0004a0001c0024t0022a0002c0002t0002others(7): Show | a0001c0006t0004g0141 a0001c0006t0004g0153 a0001c0006t0004g0201 others(48): Show |
51 | 204 | 0.2500 | 3 | c.178 others(22): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78870928 | C | CCAG | disruptive_inframe_insertion | MODERATE | HG02145.hp1 HG02280.hp2 HG02622.hp2 others(11): Show |
a0005a0016 | a0005c0004a0016c0020 | a0005c0004t0001a0005c0004t0005a0005c0004t0006others(3): Show | a0005c0004t0001g0097 a0005c0004t0005g0024 a0005c0004t0005g0026 others(11): Show |
14 | 204 | 0.0686 | 3 | c.140 others(12): Show |
p.Gln others(6): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 11/16 | 1598/8012 | 1404/3486 | 468/1161 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
BMP2K_chr4_78771350_78921365 | 78870982 | A | ACAG | disruptive_inframe_insertion | MODERATE | HG03453.hp2 HG03579.hp1 NA18906.hp1 others(1): Show |
a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0053 a0007c0008t0001g0070 a0007c0008t0001g0096 others(1): Show |
4 | 204 | 0.0196 | 3 | c.145 others(12): Show |
p.Gln others(6): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 11/16 | 1655/8012 | 1461/3486 | 487/1161 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||
BMP3_chr4_81025708_81062627 | 81030436 | T | TAAA | upstream_gene_variant | MODIFIER | HG00323.hp1 HG01106.hp1 HG01168.hp1 others(29): Show |
a0001a0002a0012 | a0001c0001a0001c0007a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0015a0001c0007t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0015 a0001c0001t0001g0048 others(16): Show |
32 | 382 | 0.0838 | 3 | c.-84 others(12): Show |
BMP3 | ENSG00000152785.8 | transcript | ENST00000282701.4 | protein_coding | 271 | chr4 | TogoVar | |||||||
BMP3_chr4_81025708_81062627 | 81032194 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp2 others(81): Show |
a0001a0002a0012others(1): Show | a0001c0001a0001c0009a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(17): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0044 others(47): Show |
84 | 382 | 0.2199 | 3 | c.316 others(18): Show |
BMP3 | ENSG00000152785.8 | transcript | ENST00000282701.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP3_chr4_81025708_81062627 | 81043590 | A | ATTT | intron_variant | MODIFIER | HG00323.hp1 HG01069.hp1 HG01516.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0034 a0001c0001t0001g0117 a0001c0001t0001g0120 others(5): Show |
9 | 382 | 0.0236 | 3 | c.317 others(20): Show |
BMP3 | ENSG00000152785.8 | transcript | ENST00000282701.4 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP3_chr4_81025708_81062627 | 81047549 | C | CAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00408.hp2 others(96): Show |
a0001a0002a0013 | a0001c0001a0002c0002a0013c0012 | a0001c0001t0001a0001c0001t0004a0001c0001t0016others(14): Show | a0001c0001t0001g0084 a0001c0001t0001g0086 a0001c0001t0001g0091 others(62): Show |
99 | 382 | 0.2592 | 3 | c.122 others(20): Show |
BMP3 | ENSG00000152785.8 | transcript | ENST00000282701.4 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
BMP4_chr14_53944736_53961825 | 53947314 | G | GAAA | downstream_gene_variant | MODIFIER | HG00738.hp1 HG01070.hp2 HG01243.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0006 | a0001c0001t0005g0017 a0001c0001t0005g0042 a0001c0001t0005g0081 others(6): Show |
16 | 454 | 0.0352 | 3 | c.*27 others(14): Show |
BMP4 | ENSG00000125378.16 | transcript | ENST00000245451.9 | protein_coding | 2421 | chr14 | TogoVar | |||||||
BMP4_chr14_53944736_53961825 | 53949030 | C | CAAA | downstream_gene_variant | MODIFIER | HG01168.hp1 HG01168.hp2 HG01169.hp1 others(5): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(4): Show |
8 | 454 | 0.0176 | 3 | c.*10 others(14): Show |
BMP4 | ENSG00000125378.16 | transcript | ENST00000245451.9 | protein_coding | 705 | chr14 | TogoVar | |||||||
BMP4_chr14_53944736_53961825 | 53949883 | C | CATT | 3_prime_UTR_variant | MODIFIER | HG00673.hp2 HG01069.hp1 HG01071.hp2 others(23): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0003a0003c0003t0003 | a0002c0002t0003g0007 a0002c0002t0003g0014 a0002c0002t0003g0024 others(4): Show |
26 | 454 | 0.0573 | 3 | c.*14 others(12): Show |
BMP4 | ENSG00000125378.16 | transcript | ENST00000245451.9 | protein_coding | 4/4 | 148 | chr14 | TogoVar | ||||||
BMP4_chr14_53944736_53961825 | 53949883 | C | CTTT | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG01358.hp1 HG01884.hp2 others(21): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0012 | a0001c0001t0004g0005 a0001c0001t0004g0021 a0001c0001t0004g0048 others(7): Show |
24 | 454 | 0.0529 | 3 | c.*14 others(12): Show |
BMP4 | ENSG00000125378.16 | transcript | ENST00000245451.9 | protein_coding | 4/4 | 148 | chr14 | TogoVar | ||||||
BMP5_chr6_55748653_55880590 | 55780456 | T | TAAA | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG01192.hp1 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0152 a0001c0001t0002g0160 a0001c0001t0004g0155 others(20): Show |
23 | 320 | 0.0719 | 3 | c.833 others(20): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 3/6 | chr6 | TogoVar | |||||||
BMP5_chr6_55748653_55880590 | 55813786 | C | CAAA | intron_variant | MODIFIER | HG02615.hp1 HG02723.hp2 HG02886.hp2 others(4): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0006a0001c0002t0001a0001c0002t0006others(3): Show | a0001c0001t0006g0277 a0001c0002t0001g0010 a0001c0002t0001g0082 others(4): Show |
7 | 320 | 0.0219 | 3 | c.683 others(20): Show |
BMP5 | ENSG00000112175.8 | transcript | ENST00000370830.4 | protein_coding | 2/6 | chr6 | TogoVar | |||||||
BMP6_chr6_7721099_7886728 | 7722447 | A | ATTT | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00621.hp2 HG01943.hp2 others(10): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0009others(3): Show | a0001c0001t0026a0001c0002t0023a0001c0002t0025others(5): Show | a0001c0001t0026g0298 a0001c0002t0023g0297 a0001c0002t0025g0299 others(10): Show |
13 | 308 | 0.0422 | 3 | c.-45 others(14): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 3651 | chr6 | TogoVar | |||||||
BMP6_chr6_7721099_7886728 | 7727289 | G | GAGC | disruptive_inframe_insertion | MODERATE | HG00408.hp1 HG00408.hp2 HG00558.hp1 others(25): Show |
a0003 | a0003c0005a0003c0006a0003c0018 | a0003c0005t0004a0003c0005t0006a0003c0005t0008others(4): Show | a0003c0005t0004g0007 a0003c0005t0004g0012 a0003c0005t0004g0015 others(25): Show |
28 | 308 | 0.0909 | 3 | c.353 others(10): Show |
p.Gln others(6): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/7 | 1213/3784 | 356/1542 | 119/513 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||
BMP6_chr6_7721099_7886728 | 7741291 | C | CATT | intron_variant | MODIFIER | HG01074.hp2 HG01109.hp1 HG01168.hp1 others(4): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(3): Show | a0001c0001t0001g0086 a0001c0001t0001g0116 a0001c0001t0002g0087 others(4): Show |
7 | 308 | 0.0227 | 3 | c.664 others(22): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7754712 | T | TTTG | intron_variant | MODIFIER | HG02717.hp2 HG03098.hp1 HG03225.hp2 |
a0001a0004 | a0001c0001a0004c0007 | a0001c0001t0003a0004c0007t0002a0004c0007t0003 | a0001c0001t0003g0078 a0004c0007t0002g0077 a0004c0007t0003g0076 |
3 | 308 | 0.0097 | 3 | c.664 others(22): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7759696 | C | CTTT | intron_variant | MODIFIER | HG02293.hp1 HG02615.hp2 HG02809.hp2 others(3): Show |
a0001a0004 | a0001c0001a0001c0012a0004c0007 | a0001c0001t0001a0001c0001t0003a0001c0001t0026others(3): Show | a0001c0001t0001g0173 a0001c0001t0003g0112 a0001c0001t0026g0298 others(3): Show |
6 | 308 | 0.0195 | 3 | c.664 others(22): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7772051 | C | CAAA | intron_variant | MODIFIER | HG00544.hp1 HG00558.hp1 HG00621.hp1 others(39): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0036 a0001c0001t0001g0037 a0001c0001t0001g0038 others(39): Show |
42 | 308 | 0.1364 | 3 | c.664 others(22): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7808914 | T | TAAA | intron_variant | MODIFIER | HG01069.hp2 HG01106.hp2 HG01361.hp1 others(24): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0009others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0024others(12): Show | a0001c0001t0001g0041 a0001c0001t0001g0060 a0001c0001t0001g0126 others(24): Show |
27 | 308 | 0.0877 | 3 | c.665 others(22): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7813458 | C | CAAA | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(98): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0009others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0033 a0001c0001t0001g0040 a0001c0001t0001g0041 others(98): Show |
101 | 308 | 0.3279 | 3 | c.665 others(22): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP6_chr6_7721099_7886728 | 7856120 | T | TAAA | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01123.hp1 others(11): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0013a0001c0002t0002a0001c0002t0019others(7): Show | a0001c0001t0013g0304 a0001c0002t0002g0035 a0001c0002t0002g0084 others(11): Show |
14 | 308 | 0.0455 | 3 | c.858 others(20): Show |
BMP6 | ENSG00000153162.9 | transcript | ENST00000283147.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
BMP7_chr20_57163753_57271641 | 57223233 | A | AAAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(186): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0002 a0001c0001t0001g0028 a0001c0001t0001g0034 others(182): Show |
189 | 272 | 0.6949 | 3 | c.611 others(20): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 2/6 | chr20 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57254017 | C | CTTT | intron_variant | MODIFIER | HG00280.hp1 HG01952.hp1 HG02056.hp2 others(6): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0016others(1): Show | a0001c0001t0001g0060 a0001c0001t0001g0061 a0001c0001t0001g0082 others(6): Show |
9 | 272 | 0.0331 | 3 | c.418 others(22): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 1/6 | chr20 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57255799 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(41): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0036 a0001c0001t0001g0047 a0001c0001t0001g0082 others(40): Show |
44 | 272 | 0.1618 | 3 | c.418 others(20): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 1/6 | chr20 | TogoVar | |||||||
BMP7_chr20_57163753_57271641 | 57257824 | C | CAAA | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp2 HG01496.hp1 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0101 a0001c0001t0001g0209 a0001c0001t0001g0217 others(11): Show |
15 | 272 | 0.0552 | 3 | c.418 others(20): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 1/6 | chr20 | TogoVar | |||||||
BMP8A_chr1_39486636_39534869 | 39505985 | C | CAAA | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(127): Show |
a0001a0002a0004others(8): Show | a0001c0001a0001c0014a0002c0002others(12): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0018others(33): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0035 others(102): Show |
130 | 362 | 0.3591 | 3 | c.335 others(20): Show |
BMP8A | ENSG00000183682.8 | transcript | ENST00000331593.6 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
BMP8A_chr1_39486636_39534869 | 39522646 | T | TTTG | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00323.hp2 others(168): Show |
a0001a0006a0013others(5): Show | a0001c0001a0001c0014a0001c0021others(9): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0017others(31): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0004 others(126): Show |
171 | 362 | 0.4724 | 3 | c.948 others(18): Show |
BMP8A | ENSG00000183682.8 | transcript | ENST00000331593.6 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
BMP8B_chr1_39752182_39793865 | 39763534 | C | CACA | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00621.hp1 others(58): Show |
a0003a0005a0006others(1): Show | a0003c0004a0003c0014a0005c0008others(4): Show | a0003c0004t0004a0003c0004t0007a0003c0014t0004others(8): Show | a0003c0004t0004g0028 a0003c0004t0004g0213 a0003c0004t0004g0214 others(41): Show |
61 | 430 | 0.1419 | 3 | c.948 others(18): Show |
BMP8B | ENSG00000116985.12 | transcript | ENST00000372827.8 | protein_coding | 5/6 | chr1 | TogoVar | |||||||
BMP8B_chr1_39752182_39793865 | 39782830 | T | TTAG | intron_variant | MODIFIER | HG01433.hp2 HG01496.hp1 HG02300.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0171 a0001c0002t0002g0172 a0001c0002t0002g0173 |
3 | 430 | 0.0070 | 3 | c.334 others(20): Show |
BMP8B | ENSG00000116985.12 | transcript | ENST00000372827.8 | protein_coding | 1/6 | chr1 | TogoVar | |||||||
BMP8B_chr1_39752182_39793865 | 39792401 | A | ATTT | upstream_gene_variant | MODIFIER | HG00609.hp1 HG01433.hp2 NA18956.hp1 others(5): Show |
a0001a0003a0006 | a0001c0002a0001c0005a0003c0004others(1): Show | a0001c0002t0002a0001c0005t0003a0003c0004t0007others(1): Show | a0001c0002t0002g0144 a0001c0002t0002g0166 a0001c0002t0002g0173 others(5): Show |
8 | 430 | 0.0186 | 3 | c.-39 others(14): Show |
BMP8B | ENSG00000116985.12 | transcript | ENST00000372827.8 | protein_coding | 3537 | chr1 | TogoVar | |||||||
BMPER_chr7_33900539_34161427 | 33905359 | G | GAAA | upstream_gene_variant | MODIFIER | HG00438.hp2 HG00597.hp2 HG00673.hp1 others(16): Show |
a0001a0005 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0095 a0001c0001t0001g0099 a0001c0001t0001g0147 others(16): Show |
19 | 232 | 0.0819 | 3 | c.-25 others(12): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 179 | chr7 | TogoVar | |||||||
BMPER_chr7_33900539_34161427 | 33909693 | A | AAAG | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(82): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(32): Show | a0001c0001t0001g0142 a0001c0001t0001g0147 a0001c0001t0001g0164 others(82): Show |
85 | 232 | 0.3664 | 3 | c.219 others(20): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 33920418 | G | GTTT | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00438.hp2 others(58): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0142 a0001c0001t0001g0164 a0001c0001t0001g0165 others(58): Show |
61 | 232 | 0.2629 | 3 | 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 | 33928639 | C | CAAA | intron_variant | MODIFIER | HG00423.hp2 HG01433.hp2 HG02055.hp1 others(5): Show |
a0001 | a0001c0001a0001c0003a0001c0010others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(3): Show | a0001c0001t0001g0010 a0001c0001t0001g0184 a0001c0001t0001g0225 others(5): Show |
8 | 232 | 0.0345 | 3 | c.220 others(20): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34024357 | C | CAAA | intron_variant | MODIFIER | HG01175.hp1 HG02300.hp1 HG02451.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(8): Show | a0001c0001t0003g0110 a0001c0001t0004g0093 a0001c0001t0006g0079 others(9): Show |
12 | 232 | 0.0517 | 3 | c.577 others(22): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34028601 | G | GTTT | intron_variant | MODIFIER | HG00597.hp2 HG01167.hp2 HG01192.hp2 others(13): Show |
a0001 | a0001c0001a0001c0003a0001c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0164 a0001c0001t0001g0165 a0001c0001t0001g0225 others(13): Show |
16 | 232 | 0.0690 | 3 | c.577 others(22): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34030989 | C | CAAT | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG02055.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0001g0010 a0001c0001t0006g0009 a0001c0001t0006g0029 others(9): Show |
12 | 232 | 0.0517 | 3 | c.577 others(22): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34046926 | A | ATTT | intron_variant | MODIFIER | HG00140.hp1 HG01070.hp2 HG01175.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(10): Show | a0001c0001t0001g0051 a0001c0001t0001g0230 a0001c0001t0004g0093 others(11): Show |
14 | 232 | 0.0603 | 3 | c.676 others(18): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 7/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34065248 | C | CTCT | intron_variant | MODIFIER | HG02922.hp2 HG03098.hp1 NA18971.hp1 |
a0001 | a0001c0001a0001c0002a0001c0011 | a0001c0001t0001a0001c0002t0007a0001c0011t0007 | a0001c0001t0001g0130 a0001c0002t0007g0168 a0001c0011t0007g0015 |
3 | 232 | 0.0129 | 3 | c.107 others(22): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 11/14 | chr7 | TogoVar | |||||||
BMPER_chr7_33900539_34161427 | 34068071 | C | CCAG | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp1 others(47): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0066 a0001c0001t0001g0130 a0001c0001t0001g0165 others(47): Show |
50 | 232 | 0.2155 | 3 | c.107 others(22): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 11/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |