| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| BORCS8_chr19_19171906_19197152 | 19191974 | GCAGTT | G | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 HG02258.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0025a0001c0001t0001g0047a0001c0001t0001g0048others(9): Show | 13 | 428 | 0.0304 | -5 | c.37+ others(18): Show |
BORCS8 | ENSG00000254901.8 | transcript | ENST00000462790.8 | protein_coding | 1/5 | chr19 | TogoVar | ||||||
| BPGM_chr7_134641853_134684816 | 134665865 | ATTTTC | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00544.hp1 others(148): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0010others(92): Show | 151 | 362 | 0.4171 | -5 | c.601 others(22): Show |
BPGM | ENSG00000172331.12 | transcript | ENST00000344924.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| BPGM_chr7_134641853_134684816 | 134680360 | TTAAAG | T | downstream_gene_variant | MODIFIER | HG00544.hp1 HG00642.hp2 HG01081.hp2 others(34): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0015a0001c0001t0001g0039others(25): Show | 37 | 362 | 0.1022 | -5 | c.*13 others(16): Show |
BPGM | ENSG00000172331.12 | transcript | ENST00000344924.8 | protein_coding | 545 | chr7 | TogoVar | ||||||
| BPHL_chr6_3113711_3158578 | 3133232 | ACTCTT | A | intron_variant | MODIFIER | HG01081.hp1 HG01099.hp2 HG01167.hp2 others(49): Show |
a0001a0003a0005 | a0001c0001a0001c0002a0001c0004others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0053a0001c0001t0001g0082a0001c0001t0002g0038others(40): Show | 52 | 350 | 0.1486 | -5 | c.532 others(22): Show |
BPHL | ENSG00000137274.13 | transcript | ENST00000380379.10 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| BPIFA1_chr20_33230996_33248306 | 33240687 | ATAAAG | A | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02145.hp2 others(11): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0006 | a0001c0002t0003g0006a0001c0002t0003g0072a0001c0002t0003g0100others(1): Show | 14 | 382 | 0.0367 | -5 | c.581 others(20): Show |
BPIFA1 | ENSG00000198183.13 | transcript | ENST00000354297.9 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| BPIFB4_chr20_33074643_33116751 | 33082323 | GTTTAT | G | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp2 others(124): Show |
a0002a0003a0004others(9): Show | a0002c0002a0002c0011a0003c0015others(11): Show | a0002c0002t0001a0002c0002t0002a0002c0011t0001others(13): Show | a0002c0002t0001g0004a0002c0002t0001g0005a0002c0002t0001g0006others(104): Show | 127 | 344 | 0.3692 | -5 | c.107 others(20): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| BPIFB4_chr20_33074643_33116751 | 33107275 | GGAAAA | G | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01169.hp2 others(8): Show |
a0001a0006 | a0001c0001a0006c0005 | a0001c0001t0001a0006c0005t0001 | a0001c0001t0001g0003a0001c0001t0001g0230a0001c0001t0001g0231others(4): Show | 11 | 344 | 0.0320 | -5 | c.174 others(22): Show |
BPIFB4 | ENSG00000186191.9 | transcript | ENST00000375483.4 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| BPIFC_chr22_32408845_32469446 | 32419803 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp2 HG01928.hp1 others(17): Show |
a0001a0004a0007 | a0001c0001a0004c0004a0007c0008others(1): Show | a0001c0001t0002a0004c0004t0002a0007c0008t0002others(2): Show | a0001c0001t0002g0028a0001c0001t0002g0074a0001c0001t0002g0156others(17): Show | 20 | 422 | 0.0474 | -5 | c.121 others(22): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
| BPIFC_chr22_32408845_32469446 | 32424602 | TCCTCC | T | intron_variant | MODIFIER | HG02559.hp2 HG02895.hp2 NA18522.hp1 others(1): Show |
a0003a0007 | a0003c0003a0007c0008 | a0003c0003t0001a0003c0003t0002a0007c0008t0001 | a0003c0003t0001g0307a0003c0003t0002g0388a0007c0008t0001g0182others(1): Show | 4 | 422 | 0.0095 | -5 | c.121 others(24): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
| BPIFC_chr22_32408845_32469446 | 32424630 | CTTCTT | C | intron_variant | MODIFIER | HG00597.hp1 HG01074.hp1 HG02559.hp1 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0002c0002t0001a0003c0003t0001 | a0001c0001t0001g0181a0001c0001t0001g0278a0001c0001t0001g0377others(3): Show | 6 | 422 | 0.0142 | -5 | c.121 others(24): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
| BPTF_chr17_67820503_67989378 | 67881491 | GTTTTT | G | intron_variant | MODIFIER | HG00597.hp2 HG00639.hp2 HG00741.hp1 others(17): Show |
a0001a0010a0013 | a0001c0001a0010c0017a0013c0025 | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0017a0001c0001t0001g0018others(17): Show | 20 | 274 | 0.0730 | -5 | c.186 others(24): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 4/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BPTF_chr17_67820503_67989378 | 67897341 | CAAAAA | C | intron_variant | MODIFIER | HG01891.hp1 HG02717.hp1 HG02895.hp2 others(4): Show |
a0001a0008 | a0001c0005a0008c0023 | a0001c0005t0005a0008c0023t0005 | a0001c0005t0005g0099a0001c0005t0005g0100a0001c0005t0005g0265others(4): Show | 7 | 274 | 0.0256 | -5 | c.254 others(24): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 7/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BPTF_chr17_67820503_67989378 | 67923471 | CTTTTT | C | intron_variant | MODIFIER | HG02717.hp1 HG02895.hp2 HG02896.hp2 others(4): Show |
a0001a0005a0008 | a0001c0005a0005c0008a0008c0023 | a0001c0005t0005a0005c0008t0002a0008c0023t0005 | a0001c0005t0005g0099a0001c0005t0005g0100a0001c0005t0005g0267others(4): Show | 7 | 274 | 0.0256 | -5 | c.570 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 14/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BPTF_chr17_67820503_67989378 | 67940063 | TATTAA | T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00544.hp2 others(102): Show |
a0001a0002a0004others(5): Show | a0001c0032a0002c0002a0002c0006others(9): Show | a0001c0032t0002a0002c0002t0002a0002c0002t0007others(10): Show | a0001c0032t0002g0007a0002c0002t0002g0014a0002c0002t0002g0015others(102): Show | 105 | 274 | 0.3832 | -5 | c.626 others(22): Show |
BPTF | ENSG00000171634.19 | transcript | ENST00000306378.11 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
| BRAF_chr7_140714337_140929929 | 140802085 | TATATG | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(4): Show | a0001c0001t0001g0174a0001c0001t0004g0159a0001c0001t0004g0161others(18): Show | 21 | 190 | 0.1105 | -5 | c.712 others(20): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000644969.2 | protein_coding | 5/19 | chr7 | TogoVar | ||||||
| BRAF_chr7_140725665_140929929 | 140802085 | TATATG | T | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00558.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0009a0001c0001t0034others(4): Show | a0001c0001t0004g0167a0001c0001t0004g0168a0001c0001t0004g0170others(18): Show | 21 | 196 | 0.1071 | -5 | c.712 others(20): Show |
BRAF | ENSG00000157764.14 | transcript | ENST00000646891.2 | protein_coding | 5/17 | chr7 | TogoVar | ||||||
| BRAP_chr12_111637146_111690956 | 111671549 | CCAAAA | C | intron_variant | MODIFIER | HG01943.hp2 HG02257.hp1 HG02717.hp2 others(5): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0002a0001c0004t0002 | a0001c0003t0002g0228a0001c0003t0002g0229a0001c0003t0002g0230others(5): Show | 8 | 364 | 0.0220 | -5 | c.747 others(22): Show |
BRAP | ENSG00000089234.16 | transcript | ENST00000419234.9 | protein_coding | 5/11 | chr12 | TogoVar | ||||||
| BRAT1_chr7_2532810_2560524 | 2533376 | ATTTTT | A | downstream_gene_variant | MODIFIER | HG01978.hp1 HG02055.hp2 HG02970.hp1 others(3): Show |
a0001 | a0001c0002a0001c0015 | a0001c0002t0001a0001c0015t0001 | a0001c0002t0001g0002a0001c0002t0001g0008a0001c0002t0001g0108others(3): Show | 6 | 424 | 0.0142 | -5 | c.*46 others(16): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 4433 | chr7 | TogoVar | ||||||
| BRAT1_chr7_2532810_2560524 | 2559765 | TGGGGG | T | upstream_gene_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00609.hp2 others(74): Show |
a0001a0002a0006others(4): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0003others(9): Show | a0001c0001t0001g0126a0001c0001t0001g0194a0001c0001t0001g0230others(64): Show | 77 | 424 | 0.1816 | -5 | c.-43 others(16): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 4242 | chr7 | TogoVar | ||||||
| BRCA1_chr17_43039295_43130364 | 43046222 | CTTTTT | C | intron_variant | MODIFIER | HG00735.hp2 HG02145.hp1 HG02280.hp1 others(10): Show |
a0003 | a0003c0003 | a0003c0003t0003a0003c0003t0011 | a0003c0003t0003g0108a0003c0003t0003g0116a0003c0003t0003g0121others(10): Show | 13 | 276 | 0.0471 | -5 | c.546 others(22): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 22/22 | chr17 | TogoVar | ||||||
| BRCA1_chr17_43039295_43130364 | 43074719 | GGGGTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(108): Show |
a0001a0004a0007others(3): Show | a0001c0001a0001c0022a0001c0024others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(8): Show | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0105others(108): Show | 111 | 276 | 0.4022 | -5 | c.448 others(22): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 13/22 | chr17 | TogoVar | ||||||
| BRCA1_chr17_43039295_43130364 | 43100615 | TATAAC | T | intron_variant | MODIFIER | HG01891.hp2 HG02572.hp1 HG03704.hp1 |
a0001a0007 | a0001c0001a0007c0008 | a0001c0001t0001a0007c0008t0001 | a0001c0001t0001g0107a0001c0001t0001g0247a0007c0008t0001g0266 | 3 | 276 | 0.0109 | -5 | c.442 others(20): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | ||||||
| BRCA1_chr17_43039295_43130364 | 43100652 | TATAAC | T | intron_variant | MODIFIER | HG03669.hp1 NA18959.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172a0001c0001t0001g0214a0001c0001t0001g0243 | 3 | 276 | 0.0109 | -5 | c.442 others(20): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 6/22 | chr17 | TogoVar | ||||||
| BRCA1_chr17_43039295_43130364 | 43112738 | TGAAAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(159): Show |
a0001a0003a0004others(9): Show | a0001c0001a0001c0022a0001c0024others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(19): Show | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0105others(159): Show | 162 | 276 | 0.5870 | -5 | c.134 others(22): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | TogoVar | ||||||
| BRCA1_chr17_43039295_43130364 | 43113362 | ATTTTC | A | intron_variant | MODIFIER | HG01109.hp2 HG01167.hp2 HG01169.hp1 others(35): Show |
a0003a0018 | a0003c0003a0003c0018a0018c0021 | a0003c0003t0002a0003c0003t0004a0003c0003t0006others(2): Show | a0003c0003t0002g0112a0003c0003t0002g0113a0003c0003t0002g0114others(35): Show | 38 | 276 | 0.1377 | -5 | c.134 others(22): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 3/22 | chr17 | TogoVar | ||||||
| BRCA1_chr17_43039295_43130364 | 43124747 | TTTTTG | T | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02976.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0103a0001c0001t0001g0104a0001c0001t0001g0105others(3): Show | 6 | 276 | 0.0217 | -5 | c.-20 others(20): Show |
BRCA1 | ENSG00000012048.25 | transcript | ENST00000357654.9 | protein_coding | 1/22 | chr17 | TogoVar | ||||||
| BRCA2_chr13_32310508_32405268 | 32333478 | ATATCT | A | intron_variant | MODIFIER | HG02886.hp2 HG02970.hp1 HG03139.hp2 others(3): Show |
a0001a0023 | a0001c0004a0023c0032 | a0001c0004t0012a0023c0032t0012 | a0001c0004t0012g0082a0001c0004t0012g0083a0001c0004t0012g0085others(3): Show | 6 | 398 | 0.0151 | -5 | c.190 others(20): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 10/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| BRCA2_chr13_32310508_32405268 | 32365109 | CTTTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00597.hp1 others(85): Show |
a0001a0004a0007others(6): Show | a0001c0001a0004c0019a0007c0008others(6): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0009others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0015others(81): Show | 88 | 398 | 0.2211 | -5 | c.833 others(24): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 18/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| BRCA2_chr13_32310508_32405268 | 32376115 | GTGAAA | G | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02647.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0055a0001c0001t0008g0056a0001c0001t0008g0290others(1): Show | 4 | 398 | 0.0101 | -5 | c.863 others(22): Show |
BRCA2 | ENSG00000139618.18 | transcript | ENST00000380152.8 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| BRD2_chr6_32963594_32986501 | 32979040 | GTGTTT | G | intron_variant | MODIFIER | HG01175.hp1 HG01255.hp1 HG02683.hp2 others(12): Show |
a0001a0003 | a0001c0002a0003c0012 | a0001c0002t0001a0003c0012t0001 | a0001c0002t0001g0007a0001c0002t0001g0081a0001c0002t0001g0082others(2): Show | 15 | 469 | 0.0320 | -5 | c.184 others(22): Show |
BRD2 | ENSG00000204256.14 | transcript | ENST00000374825.9 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| BRD3_chr9_134025305_134073026 | 134051877 | GTTGTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00408.hp1 others(86): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0004a0001c0001t0012others(23): Show | a0001c0001t0002g0002a0001c0001t0002g0006a0001c0001t0002g0014others(71): Show | 89 | 334 | 0.2665 | -5 | c.352 others(20): Show |
BRD3 | ENSG00000169925.17 | transcript | ENST00000303407.12 | protein_coding | 3/11 | chr9 | TogoVar | ||||||
| BRD4_chr19_15230519_15337539 | 15278105 | CAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00733.hp2 HG01081.hp2 others(32): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0004a0001c0010others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(21): Show | a0001c0001t0001g0030a0001c0001t0001g0035a0001c0001t0001g0062others(32): Show | 35 | 208 | 0.1683 | -5 | c.-34 others(22): Show |
BRD4 | ENSG00000141867.19 | transcript | ENST00000679869.1 | protein_coding | 1/19 | chr19 | TogoVar | ||||||
| BRD7_chr16_50310957_50373988 | 50368304 | AAAAAG | A | splice_region_variant others(1): Show |
LOW | HG01106.hp2 HG01891.hp1 HG02145.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0023a0001c0002t0002a0002c0003t0008others(1): Show | a0001c0001t0023g0273a0001c0002t0002g0360a0002c0003t0008g0021others(4): Show | 8 | 402 | 0.0199 | -5 | c.50- others(15): Show |
BRD7 | ENSG00000166164.17 | transcript | ENST00000394688.8 | protein_coding | 1/16 | chr16 | TogoVar | ||||||
| BRD8_chr5_138134770_138183630 | 138148363 | CTCTTT | C | intron_variant | MODIFIER | HG02976.hp2 HG03579.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0352a0001c0001t0001g0353a0001c0001t0001g0354 | 3 | 378 | 0.0079 | -5 | c.327 others(24): Show |
BRD8 | ENSG00000112983.18 | transcript | ENST00000254900.10 | protein_coding | 23/26 | chr5 | TogoVar | ||||||
| BRD9_chr5_858741_897801 | 880978 | AGGTCG | A | intron_variant | MODIFIER | HG02280.hp1 HG03041.hp2 HG03471.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025a0001c0001t0001g0057a0001c0001t0001g0133others(1): Show | 5 | 364 | 0.0137 | -5 | c.104 others(22): Show |
BRD9 | ENSG00000028310.18 | transcript | ENST00000467963.6 | protein_coding | 9/15 | chr5 | TogoVar | ||||||
| BRDT_chr1_91944401_92019421 | 91963763 | TCTTAC | T | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02109.hp1 others(5): Show |
a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0119a0004c0004t0002g0120a0004c0004t0002g0121others(5): Show | 8 | 318 | 0.0252 | -5 | c.192 others(20): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| BRDT_chr1_91944401_92019421 | 92009725 | TTTTTA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(32): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001a0003c0003t0002others(1): Show | a0001c0001t0001g0282a0001c0001t0001g0283a0003c0003t0001g0006others(31): Show | 35 | 318 | 0.1101 | -5 | c.277 others(24): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 18/18 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| BRDT_chr1_91944401_92019421 | 92015696 | GACTTC | G | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(40): Show |
a0001a0003a0010 | a0001c0001a0003c0003a0010c0007 | a0001c0001t0001a0001c0001t0003a0003c0003t0001others(3): Show | a0001c0001t0001g0282a0001c0001t0001g0283a0001c0001t0003g0007others(39): Show | 43 | 318 | 0.1352 | -5 | c.*14 others(16): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 1276 | chr1 | TogoVar | ||||||
| BRF1_chr14_105204286_105306001 | 105245573 | AACAGG | A | intron_variant | MODIFIER | HG00323.hp2 HG00639.hp2 HG01109.hp2 others(8): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0050a0001c0001t0001g0051a0001c0001t0001g0052others(8): Show | 11 | 72 | 0.1528 | -5 | c.545 others(22): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 5/17 | chr14 | TogoVar | ||||||
| BRF2_chr8_37838268_37854861 | 37854035 | TTCTTC | T | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02280.hp1 HG02818.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009a0001c0001t0001g0017a0001c0001t0001g0021others(1): Show | 6 | 380 | 0.0158 | -5 | c.-42 others(16): Show |
BRF2 | ENSG00000104221.13 | transcript | ENST00000220659.11 | protein_coding | 4175 | chr8 | TogoVar | ||||||
| BRINP1_chr9_119161629_119374435 | 119161651 | TCTTTA | T | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01256.hp1 HG01256.hp2 others(2): Show |
a0001a0004 | a0001c0001a0004c0011 | a0001c0001t0001a0004c0011t0001 | a0001c0001t0001g0034a0001c0001t0001g0056a0001c0001t0001g0080others(2): Show | 5 | 236 | 0.0212 | -5 | c.*54 others(16): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 4977 | chr9 | TogoVar | ||||||
| BRINP1_chr9_119161629_119374435 | 119175106 | TTAAAG | T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(77): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0033a0001c0001t0001g0035a0001c0001t0001g0037others(77): Show | 80 | 236 | 0.3390 | -5 | c.114 others(24): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 7/7 | chr9 | TogoVar | ||||||
| BRINP1_chr9_119161629_119374435 | 119226090 | TAAGAC | T | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01515.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003a0001c0010 | a0001c0001t0001a0001c0001t0003a0001c0003t0001others(3): Show | a0001c0001t0001g0132a0001c0001t0001g0195a0001c0001t0001g0200others(15): Show | 18 | 236 | 0.0763 | -5 | c.686 others(24): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 5/7 | chr9 | TogoVar | ||||||
| BRINP1_chr9_119161629_119374435 | 119247657 | CAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00544.hp1 HG01069.hp1 others(40): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(3): Show | a0001c0001t0001g0034a0001c0001t0001g0037a0001c0001t0001g0039others(40): Show | 43 | 236 | 0.1822 | -5 | c.409 others(22): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 3/7 | chr9 | TogoVar | ||||||
| BRINP1_chr9_119161629_119374435 | 119281743 | ATGATG | A | intron_variant | MODIFIER | HG01884.hp1 HG03579.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0009a0001c0005t0001 | a0001c0003t0009g0214a0001c0005t0001g0201 | 2 | 236 | 0.0085 | -5 | c.218 others(24): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 2/7 | chr9 | TogoVar | ||||||
| BRINP1_chr9_119161629_119374435 | 119353822 | CTTTTT | C | intron_variant | MODIFIER | HG01891.hp2 HG02615.hp2 HG02809.hp1 others(10): Show |
a0001 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(3): Show | a0001c0001t0001g0200a0001c0003t0001g0040a0001c0003t0001g0041others(10): Show | 13 | 236 | 0.0551 | -5 | c.-51 others(24): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 1/7 | chr9 | TogoVar | ||||||
| BRINP2_chr1_177165958_177287422 | 177211712 | ATTACT | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG03225.hp1 others(1): Show |
a0001a0002 | a0001c0004a0002c0003 | a0001c0004t0004a0002c0003t0004 | a0001c0004t0004g0228a0001c0004t0004g0230a0002c0003t0004g0169others(1): Show | 4 | 252 | 0.0159 | -5 | c.-76 others(24): Show |
BRINP2 | ENSG00000198797.7 | transcript | ENST00000361539.5 | protein_coding | 1/7 | chr1 | TogoVar | ||||||
| BRINP3_chr1_190092658_190482864 | 190108085 | AAAAAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp2 HG00544.hp2 others(45): Show |
a0001a0004 | a0001c0001a0004c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0016a0001c0001t0001g0032a0001c0001t0001g0045others(45): Show | 48 | 240 | 0.2000 | -5 | c.118 others(24): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
| BRINP3_chr1_190092658_190482864 | 190125996 | CTAACA | C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01074.hp1 others(66): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0013a0001c0001t0001g0019a0001c0001t0001g0020others(66): Show | 69 | 240 | 0.2875 | -5 | c.118 others(26): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
| BRINP3_chr1_190092658_190482864 | 190174784 | AACAGC | A | intron_variant | MODIFIER | HG00544.hp1 HG00609.hp1 HG00639.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(58): Show | 61 | 240 | 0.2542 | -5 | c.962 others(24): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 6/7 | chr1 | TogoVar |