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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BHLHA9_chr17_1265444_1276815 | 1270502 | T | TGGGCAGA | 5_prime_UTR_variant | MODIFIER | HG01928.hp2 HG02293.hp2 HG02300.hp2 others(3): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0003a0001c0007t0003 | a0001c0001t0003g0000a0001c0007t0003g0000 | 6 | 442 | 0.0136 | 7 | c.-43 others(14): Show |
BHLHA9 | ENSG00000205899.4 | transcript | ENST00000391429.2 | protein_coding | 1/1 | 36 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
BHLHE40_chr3_4974437_4990323 | 4988355 | T | TGCGGGGG | downstream_gene_variant | MODIFIER | HG01257.hp1 HG02080.hp1 NA18948.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0017 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0008g0002others(1): Show | 11 | 436 | 0.0252 | 7 | c.*46 others(18): Show |
BHLHE40 | ENSG00000134107.5 | transcript | ENST00000256495.4 | protein_coding | 3033 | chr3 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32105400 | C | CTTTTTTT | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG01167.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0004a0001c0001t0006a0001c0001t0007others(8): Show | a0001c0001t0004g0114a0001c0001t0004g0136a0001c0001t0004g0142others(31): Show | 34 | 290 | 0.1172 | 7 | c.-19 others(18): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1446 | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32148142 | C | CAAAAAAA | intron_variant | MODIFIER | HG01106.hp2 HG02040.hp1 HG02486.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(6): Show | a0001c0001t0001g0188a0001c0001t0001g0193a0001c0001t0003g0187others(9): Show | 12 | 290 | 0.0414 | 7 | c.213 others(26): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32166138 | A | ATTTATTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(102): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(36): Show | a0001c0001t0001g0174a0001c0001t0001g0188a0001c0001t0001g0194others(102): Show | 105 | 290 | 0.3621 | 7 | c.214 others(26): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32221356 | A | AAATAAAT | intron_variant | MODIFIER | NA18946.hp1 NA18977.hp1 NA18994.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0002t0002others(1): Show | a0001c0001t0003g0177a0001c0001t0007g0107a0001c0002t0002g0062others(1): Show | 4 | 290 | 0.0138 | 7 | c.426 others(24): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32233322 | T | TTAAAAAA | intron_variant | MODIFIER | HG00642.hp1 HG01346.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0008a0001c0001t0010a0001c0003t0013others(3): Show | a0001c0001t0008g0140a0001c0001t0010g0133a0001c0003t0013g0051others(4): Show | 7 | 290 | 0.0241 | 7 | c.426 others(26): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | chr12 | TogoVar | ||||||
BICD1_chr12_32101847_32388633 | 32243264 | A | ATTTTTTT | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00558.hp1 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(20): Show | a0001c0001t0001g0049a0001c0001t0001g0193a0001c0001t0001g0194others(41): Show | 44 | 290 | 0.1517 | 7 | c.426 others(26): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32257211 | C | CAAAAAAA | intron_variant | MODIFIER | HG01358.hp2 HG03688.hp2 HG04184.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0011a0001c0002t0002a0001c0002t0003others(3): Show | a0001c0001t0011g0269a0001c0002t0002g0063a0001c0002t0002g0073others(8): Show | 11 | 290 | 0.0379 | 7 | c.427 others(26): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32298569 | C | CAAAAAAA | intron_variant | MODIFIER | HG00741.hp2 HG01167.hp2 HG01169.hp2 others(28): Show |
a0001 | a0001c0001a0001c0003a0001c0005 | a0001c0001t0006a0001c0001t0009a0001c0001t0010others(10): Show | a0001c0001t0006g0021a0001c0001t0006g0023a0001c0001t0006g0034others(28): Show | 31 | 290 | 0.1069 | 7 | c.579 others(24): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICD1_chr12_32101847_32388633 | 32384640 | T | TCTTCTTC | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01109.hp1 HG01496.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(3): Show | a0001c0001t0003g0067a0001c0001t0003g0177a0001c0001t0003g0205others(13): Show | 16 | 290 | 0.0552 | 7 | c.*70 others(18): Show |
BICD1 | ENSG00000151746.15 | transcript | ENST00000652176.1 | protein_coding | 1008 | chr12 | TogoVar | ||||||
BICD2_chr9_92706363_92769833 | 92723041 | C | CCCTGACA | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(158): Show |
a0001a0003a0004others(2): Show | a0001c0001a0001c0008a0001c0009others(4): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(29): Show | a0001c0001t0002g0005a0001c0001t0002g0028a0001c0001t0002g0029others(135): Show | 161 | 360 | 0.4472 | 7 | c.454 others(22): Show |
BICD2 | ENSG00000185963.14 | transcript | ENST00000356884.11 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
BICDL1_chr12_119984236_120099494 | 120040751 | C | CTTTTTTT | intron_variant | MODIFIER | HG01243.hp1 HG02280.hp2 HG02572.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0003a0001c0001t0009a0001c0001t0011others(7): Show | a0001c0001t0003g0131a0001c0001t0009g0216a0001c0001t0011g0288others(15): Show | 18 | 296 | 0.0608 | 7 | c.646 others(26): Show |
BICDL1 | ENSG00000135127.12 | transcript | ENST00000548673.6 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
BICRAL_chr6_42777052_42873556 | 42793122 | A | ATTTTTTT | intron_variant | MODIFIER | NA18947.hp1 NA18950.hp2 NA18982.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0028a0001c0001t0001g0029a0001c0001t0001g0031others(2): Show | 5 | 270 | 0.0185 | 7 | c.-10 others(28): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BICRAL_chr6_42777052_42873556 | 42793296 | A | ATTTTTTT | intron_variant | MODIFIER | HG00597.hp1 HG02132.hp2 HG02523.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0008a0001c0001t0001g0041a0001c0001t0001g0042others(18): Show | 21 | 270 | 0.0778 | 7 | c.-10 others(28): Show |
BICRAL | ENSG00000112624.14 | transcript | ENST00000314073.10 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BICRA_chr19_47604134_47708277 | 47674305 | T | TAGGCCTA | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00423.hp2 others(87): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0006others(11): Show | a0001c0001t0001a0001c0001t0011a0001c0003t0003others(13): Show | a0001c0001t0001g0014a0001c0001t0001g0043a0001c0001t0001g0052others(87): Show | 90 | 312 | 0.2885 | 7 | c.84+ others(20): Show |
BICRA | ENSG00000063169.12 | transcript | ENST00000594866.3 | protein_coding | 4/14 | chr19 | TogoVar | ||||||
BID_chr22_17729138_17779469 | 17771787 | T | TGGATGGG | intron_variant | MODIFIER | HG02257.hp1 HG02258.hp2 HG02451.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0098a0001c0001t0001g0130a0001c0001t0001g0326others(10): Show | 13 | 362 | 0.0359 | 7 | c.-59 others(24): Show |
BID | ENSG00000015475.19 | transcript | ENST00000622694.5 | protein_coding | 1/5 | chr22 | TogoVar | ||||||
BIN1_chr2_127043032_127112154 | 127100997 | T | TGCGGGGG | intron_variant | MODIFIER | HG00597.hp2 HG02055.hp2 HG03654.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0076a0001c0002t0001g0090a0001c0002t0001g0176 | 3 | 344 | 0.0087 | 7 | c.84+ others(22): Show |
BIN1 | ENSG00000136717.15 | transcript | ENST00000316724.10 | protein_coding | 1/18 | chr2 | TogoVar | ||||||
BIN2_chr12_51276038_51329174 | 51311384 | C | CTTATTTA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00438.hp1 others(69): Show |
a0002a0004a0008 | a0002c0002a0002c0007a0002c0011others(4): Show | a0002c0002t0001a0002c0002t0002a0002c0007t0001others(6): Show | a0002c0002t0001g0001a0002c0002t0001g0021a0002c0002t0001g0034others(63): Show | 72 | 400 | 0.1800 | 7 | c.162 others(24): Show |
BIN2 | ENSG00000110934.13 | transcript | ENST00000615107.6 | protein_coding | 2/12 | chr12 | TogoVar | ||||||
BIN3_chr8_22615418_22674121 | 22616866 | C | CTTTTTTT | downstream_gene_variant | MODIFIER | NA18959.hp2 NA18970.hp2 NA18974.hp2 others(5): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0006a0001c0001t0011a0001c0001t0015others(1): Show | a0001c0001t0006g0307a0001c0001t0006g0309a0001c0001t0006g0312others(5): Show | 8 | 386 | 0.0207 | 7 | c.*45 others(18): Show |
BIN3 | ENSG00000147439.14 | transcript | ENST00000276416.11 | protein_coding | 3551 | chr8 | TogoVar | ||||||
BIRC6_chr2_32352023_32623878 | 32431181 | C | CTTTTTTT | intron_variant | MODIFIER | HG02056.hp2 HG02135.hp1 HG02451.hp2 others(8): Show |
a0001a0005 | a0001c0001a0001c0005a0001c0007others(1): Show | a0001c0001t0001a0001c0005t0001a0001c0007t0004others(1): Show | a0001c0001t0001g0237a0001c0005t0001g0212a0001c0005t0001g0216others(8): Show | 11 | 274 | 0.0402 | 7 | c.324 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 12/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32448652 | T | TGGAGAGG | intron_variant | MODIFIER | NA18942.hp2 NA18943.hp1 NA18954.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0034 | a0001c0001t0001a0002c0002t0002a0002c0034t0001 | a0001c0001t0001g0101a0001c0001t0001g0219a0001c0001t0001g0225others(4): Show | 7 | 274 | 0.0256 | 7 | c.448 others(24): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 21/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32461147 | C | CCTCCCCT | intron_variant | MODIFIER | HG01106.hp2 HG01175.hp1 HG01433.hp1 others(9): Show |
a0001 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0003t0003a0001c0005t0001others(3): Show | a0001c0001t0001g0204a0001c0001t0001g0213a0001c0001t0001g0265others(9): Show | 12 | 274 | 0.0438 | 7 | c.475 others(26): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 23/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32521365 | C | CAAAAAAA | intron_variant | MODIFIER | HG01099.hp1 HG01167.hp2 HG01496.hp1 others(8): Show |
a0001a0002 | a0001c0003a0001c0011a0001c0013others(2): Show | a0001c0003t0002a0001c0003t0003a0001c0011t0001others(3): Show | a0001c0003t0002g0130a0001c0003t0003g0124a0001c0003t0003g0127others(8): Show | 11 | 274 | 0.0402 | 7 | c.116 others(28): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 57/73 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
BLNK_chr10_96184171_96276569 | 96194768 | A | ATTTTTTT | intron_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG00735.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0013others(6): Show | a0001c0001t0001g0081a0001c0001t0001g0100a0001c0001t0001g0117others(20): Show | 23 | 322 | 0.0714 | 7 | c.125 others(26): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 16/16 | chr10 | TogoVar | ||||||
BLOC1S2_chr10_100268293_100291680 | 100276413 | C | CTCTCCCG | intron_variant | MODIFIER | HG00597.hp2 HG01934.hp2 HG01975.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0022 | a0001c0001t0001g0174a0001c0001t0001g0178a0001c0001t0001g0180others(3): Show | 6 | 378 | 0.0159 | 7 | c.398 others(22): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 4/4 | chr10 | TogoVar | ||||||
BLOC1S5_chr6_8008567_8069389 | 8013216 | C | CAAAAAAA | downstream_gene_variant | MODIFIER | HG00597.hp1 HG01175.hp2 HG01361.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0013 | a0001c0001t0002g0003a0001c0001t0002g0104a0001c0001t0002g0106others(9): Show | 13 | 364 | 0.0357 | 7 | c.*24 others(18): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 350 | chr6 | TogoVar | ||||||
BLOC1S5_chr6_8008567_8069389 | 8041312 | C | CTTTTTTT | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00597.hp1 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004 | a0001c0001t0002g0003a0001c0001t0002g0008a0001c0001t0002g0019others(53): Show | 61 | 364 | 0.1676 | 7 | c.196 others(20): Show |
BLOC1S5 | ENSG00000188428.20 | transcript | ENST00000397457.7 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
BLTP1_chr4_122147331_122367752 | 122200583 | C | CAAAAAAA | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00423.hp2 others(72): Show |
a0001a0015a0016 | a0001c0002a0001c0008a0001c0009others(5): Show | a0001c0002t0001a0001c0002t0008a0001c0008t0001others(6): Show | a0001c0002t0001g0002a0001c0002t0001g0008a0001c0002t0001g0015others(71): Show | 75 | 336 | 0.2232 | 7 | c.138 others(24): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 14/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122267051 | A | ATTTTTTT | intron_variant | MODIFIER | HG01123.hp2 HG01361.hp1 HG01884.hp2 others(3): Show |
a0003a0004 | a0003c0006a0004c0013 | a0003c0006t0001a0004c0013t0001 | a0003c0006t0001g0040a0003c0006t0001g0041a0003c0006t0001g0044others(3): Show | 6 | 336 | 0.0179 | 7 | c.749 others(24): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 46/87 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34798594 | C | CTTTTTTT | intron_variant | MODIFIER | HG00558.hp1 HG00642.hp1 HG00673.hp1 others(8): Show |
a0002a0003a0005 | a0002c0002a0003c0003a0005c0005 | a0002c0002t0002a0003c0003t0003a0003c0003t0012others(1): Show | a0002c0002t0002g0055a0003c0003t0003g0004a0003c0003t0003g0105others(8): Show | 11 | 312 | 0.0353 | 7 | c.44+ others(22): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3A_chr6_34787083_34882514 | 34808346 | C | CAAAAAAA | intron_variant | MODIFIER | HG02965.hp2 HG03098.hp1 HG03195.hp2 others(3): Show |
a0001a0006a0009 | a0001c0001a0006c0008a0009c0011 | a0001c0001t0006a0006c0008t0013a0009c0011t0022 | a0001c0001t0006g0186a0001c0001t0006g0224a0006c0008t0013g0153others(3): Show | 6 | 312 | 0.0192 | 7 | c.45- others(24): Show |
BLTP3A | ENSG00000065060.18 | transcript | ENST00000192788.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
BLTP3B_chr12_100032072_100147874 | 100124936 | T | TATATATA | intron_variant | MODIFIER | NA19078.hp1 NA20752.hp1 |
a0001a0003 | a0001c0001a0003c0002 | a0001c0001t0001a0003c0002t0001 | a0001c0001t0001g0139a0003c0002t0001g0160 | 2 | 188 | 0.0106 | 7 | c.45- others(24): Show |
BLTP3B | ENSG00000111647.13 | transcript | ENST00000279907.12 | protein_coding | 1/20 | chr12 | TogoVar | ||||||
BLVRB_chr19_40442768_40470745 | 40454543 | G | GTTTCTTT | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(143): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0007a0001c0001t0001g0023others(139): Show | 146 | 362 | 0.4033 | 7 | c.335 others(24): Show |
BLVRB | ENSG00000090013.11 | transcript | ENST00000263368.9 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
BMAL2_chr12_27327836_27430286 | 27428711 | A | ACTCCTGG | downstream_gene_variant | MODIFIER | HG01169.hp1 HG02257.hp2 HG02572.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0021 | a0001c0001t0014g0213a0001c0001t0014g0216a0001c0001t0014g0217others(2): Show | 5 | 310 | 0.0161 | 7 | c.*81 others(18): Show |
BMAL2 | ENSG00000029153.15 | transcript | ENST00000266503.10 | protein_coding | 3426 | chr12 | TogoVar | ||||||
BMERB1_chr16_15429588_15593259 | 15444123 | G | GTTTTTTT | intron_variant | MODIFIER | HG01123.hp2 HG01175.hp1 HG01358.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0002t0001 | a0001c0001t0002g0053a0001c0001t0002g0073a0001c0001t0002g0074others(4): Show | 7 | 291 | 0.0241 | 7 | c.106 others(24): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BMERB1_chr16_15429588_15593259 | 15512012 | C | CAAAAAAA | intron_variant | MODIFIER | HG01169.hp1 HG01243.hp2 HG01358.hp2 others(23): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(5): Show | a0001c0001t0001g0061a0001c0001t0001g0067a0001c0001t0001g0111others(23): Show | 26 | 291 | 0.0894 | 7 | c.107 others(24): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
BMERB1_chr16_15429588_15593259 | 15591629 | A | ACACACAC | downstream_gene_variant | MODIFIER | HG01261.hp2 HG02257.hp2 HG02258.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009 | a0001c0001t0001g0031a0001c0001t0001g0255a0001c0001t0005g0131others(4): Show | 7 | 291 | 0.0241 | 7 | c.*48 others(18): Show |
BMERB1 | ENSG00000166780.11 | transcript | ENST00000300006.9 | protein_coding | 3371 | chr16 | TogoVar | ||||||
BMP2K_chr4_78771350_78921365 | 78829783 | T | TTCTTTTC | intron_variant | MODIFIER | HG02015.hp1 HG03130.hp2 NA18940.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0067a0001c0001t0003g0003a0001c0001t0003g0013others(1): Show | 4 | 204 | 0.0196 | 7 | c.297 others(24): Show |
BMP2K | ENSG00000138756.19 | transcript | ENST00000502613.3 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
BMP7_chr20_57163753_57271641 | 57250323 | T | TTATATAA | intron_variant | MODIFIER | HG01175.hp1 HG01255.hp1 HG01884.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0002t0001a0001c0002t0003others(2): Show | a0001c0001t0009g0042a0001c0002t0001g0009a0001c0002t0001g0011others(10): Show | 14 | 272 | 0.0515 | 7 | c.418 others(26): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 1/6 | chr20 | TogoVar | ||||||
BMP7_chr20_57163753_57271641 | 57265042 | A | AAAAAAAG | intron_variant | MODIFIER | HG01106.hp2 HG01109.hp2 HG02083.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0028a0001c0001t0002g0090a0001c0001t0002g0091others(11): Show | 14 | 272 | 0.0515 | 7 | c.418 others(22): Show |
BMP7 | ENSG00000101144.13 | transcript | ENST00000395863.8 | protein_coding | 1/6 | chr20 | TogoVar | ||||||
BMPER_chr7_33900539_34161427 | 34028601 | G | GTTTTTTT | intron_variant | MODIFIER | HG01175.hp1 HG02572.hp2 NA18991.hp1 others(2): Show |
a0001a0002 | a0001c0003a0001c0010a0002c0006 | a0001c0003t0017a0001c0010t0012a0002c0006t0001others(2): Show | a0001c0003t0017g0113a0001c0010t0012g0167a0002c0006t0001g0208others(2): Show | 5 | 232 | 0.0216 | 7 | c.577 others(26): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 6/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
BMPER_chr7_33900539_34161427 | 34141234 | C | CAGTACTG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(163): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0014a0001c0001t0001g0037a0001c0001t0001g0046others(163): Show | 166 | 232 | 0.7155 | 7 | c.174 others(26): Show |
BMPER | ENSG00000164619.10 | transcript | ENST00000649409.2 | protein_coding | 13/14 | chr7 | TogoVar | ||||||
BMPR1A_chr10_86751619_86932969 | 86766617 | C | CTTTTTTT | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02055.hp2 others(18): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0006a0001c0002t0007a0001c0002t0010others(12): Show | a0001c0002t0006g0125a0001c0002t0006g0193a0001c0002t0007g0192others(18): Show | 21 | 278 | 0.0755 | 7 | 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 | 86797063 | C | CTTTTCTT | intron_variant | MODIFIER | HG00099.hp2 HG01071.hp2 HG02145.hp1 others(8): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0003a0001c0002t0021a0002c0001t0008others(2): Show | a0001c0002t0003g0110a0001c0002t0021g0154a0001c0002t0021g0155others(8): Show | 11 | 278 | 0.0396 | 7 | c.-26 others(28): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86799507 | T | TTCCTTCC | intron_variant | MODIFIER | HG00323.hp2 HG00738.hp1 HG01175.hp1 |
a0001 | a0001c0002 | a0001c0002t0022 | a0001c0002t0022g0265a0001c0002t0022g0266a0001c0002t0022g0267 | 3 | 278 | 0.0108 | 7 | c.-26 others(28): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86809613 | C | CTCTTTTT | intron_variant | MODIFIER | HG00323.hp2 HG01169.hp1 HG02451.hp1 others(3): Show |
a0001a0002 | a0001c0002a0001c0003a0002c0001 | a0001c0002t0022a0001c0002t0023a0001c0003t0014others(3): Show | a0001c0002t0022g0265a0001c0002t0023g0127a0001c0003t0014g0008others(3): Show | 6 | 278 | 0.0216 | 7 | c.-26 others(28): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1A_chr10_86751619_86932969 | 86835549 | C | CAAAAAAA | intron_variant | MODIFIER | HG01071.hp1 HG01934.hp2 HG01978.hp2 others(12): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0006a0001c0002t0007a0002c0001t0001others(3): Show | a0001c0002t0006g0025a0001c0002t0007g0192a0001c0002t0007g0269others(12): Show | 15 | 278 | 0.0540 | 7 | 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 | 86906723 | C | CAAAAAAA | intron_variant | MODIFIER | HG00099.hp1 HG02004.hp1 HG02300.hp2 others(3): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0002 | a0002c0001t0001g0133a0002c0001t0001g0233a0002c0001t0001g0238others(3): Show | 6 | 278 | 0.0216 | 7 | c.531 others(24): Show |
BMPR1A | ENSG00000107779.15 | transcript | ENST00000372037.8 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
BMPR1B_chr4_94752955_95163448 | 94770182 | G | GTTTTTTT | intron_variant | MODIFIER | HG00639.hp2 HG02486.hp2 HG02622.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0088a0001c0001t0002g0183a0001c0001t0003g0034others(8): Show | 11 | 226 | 0.0487 | 7 | c.-18 others(28): Show |
BMPR1B | ENSG00000138696.11 | transcript | ENST00000515059.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |