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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BIRC3_chr11_102312484_102344403 | 102321843 | A | C | 5_prime_UTR_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0096 | 1 | 384 | 0.0026 | 0 | c.-26 others(5): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2/9 | 2667 | chr11 | TogoVar | |||||
BIRC3_chr11_102312484_102344403 | 102322013 | T | C | 5_prime_UTR_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0015 | 1 | 384 | 0.0026 | 0 | c.-24 others(5): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2/9 | 2497 | chr11 | TogoVar | |||||
BIRC3_chr11_102312484_102344403 | 102322433 | A | G | 5_prime_UTR_variant | MODIFIER | HG02145.hp1 HG02922.hp1 HG03225.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0011a0001c0001t0021 | a0001c0001t0011g0023a0001c0001t0011g0141a0001c0001t0021g0139others(1): Show | 6 | 384 | 0.0156 | 0 | c.-20 others(5): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2/9 | 2077 | chr11 | TogoVar | |||||
BIRC3_chr11_102312484_102344403 | 102322746 | G | C | 5_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01346.hp2 HG01884.hp1 others(16): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0008a0001c0001t0016a0001c0001t0025others(5): Show | a0001c0001t0008g0037a0001c0001t0008g0048a0001c0001t0008g0050others(11): Show | 19 | 384 | 0.0495 | 0 | c.-17 others(5): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2/9 | 1764 | chr11 | TogoVar | |||||
BIRC3_chr11_102312484_102344403 | 102322777 | T | TA | 5_prime_UTR_variant | MODIFIER | HG01071.hp2 HG01243.hp1 HG02027.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0017a0001c0001t0028others(2): Show | a0001c0001t0013g0004a0001c0001t0013g0016a0001c0001t0013g0017others(4): Show | 8 | 384 | 0.0208 | 1 | c.-17 others(6): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2/9 | 1706 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
BIRC3_chr11_102312484_102344403 | 102322777 | TA | T | 5_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(219): Show |
a0001a0004a0006others(1): Show | a0001c0001a0001c0002a0001c0007others(3): Show | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(17): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(100): Show | 222 | 384 | 0.5781 | -1 | c.-17 others(6): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2/9 | 1707 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
BIRC3_chr11_102312484_102344403 | 102322777 | TAA | T | 5_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG01346.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0025a0001c0001t0026others(1): Show | a0001c0001t0007g0002a0001c0001t0007g0005a0001c0001t0007g0032others(7): Show | 10 | 384 | 0.0260 | -2 | c.-17 others(13): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2/9 | 1707 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
BIRC3_chr11_102312484_102344403 | 102322777 | TAAA | T | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG01256.hp2 HG02258.hp2 others(6): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0008a0001c0001t0016a0003c0005t0020 | a0001c0001t0008g0037a0001c0001t0008g0048a0001c0001t0008g0050others(4): Show | 9 | 384 | 0.0234 | -3 | c.-17 others(14): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2/9 | 1707 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
BIRC3_chr11_102312484_102344403 | 102322777 | TAAAA | T | 5_prime_UTR_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG02280.hp2 others(6): Show |
a0001 | a0001c0004 | a0001c0004t0009a0001c0004t0012a0001c0004t0027 | a0001c0004t0009g0013a0001c0004t0009g0030a0001c0004t0012g0035others(2): Show | 9 | 384 | 0.0234 | -4 | c.-17 others(15): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2/9 | 1707 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||
BIRC3_chr11_102312484_102344403 | 102322846 | T | C | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG01256.hp2 |
a0003 | a0003c0005 | a0003c0005t0020 | a0003c0005t0020g0001 | 2 | 384 | 0.0052 | 0 | c.-16 others(5): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2/9 | 1664 | chr11 | TogoVar | |||||
BIRC3_chr11_102312484_102344403 | 102322907 | T | A | 5_prime_UTR_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0004 | a0001c0004t0031 | a0001c0004t0031g0137 | 1 | 384 | 0.0026 | 0 | c.-16 others(5): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2/9 | 1603 | chr11 | TogoVar | |||||
BIRC3_chr11_102312484_102344403 | 102323210 | T | A | 5_prime_UTR_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0005 | 1 | 384 | 0.0026 | 0 | c.-13 others(5): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2/9 | 1300 | chr11 | TogoVar | |||||
BIRC3_chr11_102312484_102344403 | 102323650 | G | A | 5_prime_UTR_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0130 | 1 | 384 | 0.0026 | 0 | c.-86 others(4): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2/9 | 860 | chr11 | TogoVar | |||||
BIRC3_chr11_102312484_102344403 | 102323970 | G | T | 5_prime_UTR_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0033 | 1 | 384 | 0.0026 | 0 | c.-54 others(4): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2/9 | 540 | chr11 | TogoVar | |||||
BIRC3_chr11_102312484_102344403 | 102324007 | A | T | 5_prime_UTR_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0004 | a0001c0004t0027 | a0001c0004t0027g0030 | 1 | 384 | 0.0026 | 0 | c.-50 others(4): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2/9 | 503 | chr11 | TogoVar | |||||
BIRC3_chr11_102312484_102344403 | 102324277 | A | G | 5_prime_UTR_variant | MODIFIER | HG04115.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0122 | 1 | 384 | 0.0026 | 0 | c.-23 others(4): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2/9 | 233 | chr11 | TogoVar | |||||
BIRC3_chr11_102312484_102344403 | 102324398 | A | T | 5_prime_UTR_variant | MODIFIER | NA21309.hp2 | a0001 | a0001c0007 | a0001c0007t0038 | a0001c0007t0038g0056 | 1 | 384 | 0.0026 | 0 | c.-11 others(4): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2/9 | 112 | chr11 | TogoVar | |||||
BIRC3_chr11_102312484_102344403 | 102324399 | T | A | 5_prime_UTR_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0135 | 1 | 384 | 0.0026 | 0 | c.-11 others(4): Show |
BIRC3 | ENSG00000023445.17 | transcript | ENST00000263464.9 | protein_coding | 2/9 | 111 | chr11 | TogoVar | |||||
BIRC5_chr17_78209253_78230635 | 78214286 | G | C | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(187): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0007others(58): Show | 190 | 432 | 0.4398 | 0 | c.-31 others(3): Show |
BIRC5 | ENSG00000089685.15 | transcript | ENST00000350051.8 | protein_coding | 1/4 | 31 | chr17 | TogoVar | |||||
BIRC5_chr17_78209253_78230635 | 78214287 | G | A | 5_prime_UTR_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0023 | 1 | 432 | 0.0023 | 0 | c.-30 others(3): Show |
BIRC5 | ENSG00000089685.15 | transcript | ENST00000350051.8 | protein_coding | 1/4 | 30 | chr17 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32357043 | C | A | 5_prime_UTR_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02622.hp2 others(8): Show |
a0001 | a0001c0007a0001c0018a0001c0030others(1): Show | a0001c0007t0004a0001c0007t0006a0001c0007t0007others(3): Show | a0001c0007t0004g0017a0001c0007t0004g0018a0001c0007t0004g0019others(8): Show | 11 | 274 | 0.0402 | 0 | c.-11 others(4): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/74 | 119 | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32357043 | C | T | 5_prime_UTR_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0035 | a0002c0035t0012 | a0002c0035t0012g0104 | 1 | 274 | 0.0037 | 0 | c.-11 others(4): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/74 | 119 | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32357062 | C | T | 5_prime_UTR_variant | MODIFIER | HG02451.hp2 HG02559.hp2 HG02630.hp2 others(4): Show |
a0001 | a0001c0007a0001c0030 | a0001c0007t0004a0001c0007t0007a0001c0030t0004 | a0001c0007t0004g0017a0001c0007t0004g0018a0001c0007t0004g0019others(4): Show | 7 | 274 | 0.0256 | 0 | c.-10 others(4): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/74 | 100 | chr2 | TogoVar | |||||
BIRC6_chr2_32352023_32623878 | 32357071 | G | C | 5_prime_UTR_variant | MODIFIER | HG01109.hp1 | a0013 | a0013c0045 | a0013c0045t0008 | a0013c0045t0008g0151 | 1 | 274 | 0.0037 | 0 | c.-91 others(3): Show |
BIRC6 | ENSG00000115760.16 | transcript | ENST00000421745.7 | protein_coding | 1/74 | 91 | chr2 | TogoVar | |||||
BIRC7_chr20_63230905_63245495 | 63235987 | G | A | 5_prime_UTR_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0035 | 1 | 300 | 0.0033 | 0 | c.-11 others(4): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 1/7 | 110 | chr20 | TogoVar | |||||
BIRC7_chr20_63230905_63245495 | 63236002 | G | C | 5_prime_UTR_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0001 | 1 | 300 | 0.0033 | 0 | c.-95 others(3): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 1/7 | 95 | chr20 | TogoVar | |||||
BIRC7_chr20_63230905_63245495 | 63236055 | C | T | 5_prime_UTR_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0045 | 1 | 300 | 0.0033 | 0 | c.-42 others(3): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 1/7 | 42 | chr20 | TogoVar | |||||
BIRC7_chr20_63230905_63245495 | 63236067 | G | A | 5_prime_UTR_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0001 | 1 | 300 | 0.0033 | 0 | c.-30 others(3): Show |
BIRC7 | ENSG00000101197.13 | transcript | ENST00000217169.8 | protein_coding | 1/7 | 30 | chr20 | TogoVar | |||||
BIVM_chr13_102794119_102846533 | 102799383 | T | G | 5_prime_UTR_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(38): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0004a0001c0001t0007a0001c0001t0011others(6): Show | a0001c0001t0004g0049a0001c0001t0004g0051a0001c0001t0004g0052others(31): Show | 41 | 404 | 0.1015 | 0 | c.-34 others(4): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 1/11 | 7885 | chr13 | TogoVar | |||||
BIVM_chr13_102794119_102846533 | 102799493 | G | A | 5_prime_UTR_variant | MODIFIER | HG00140.hp2 HG01123.hp1 HG01978.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0018 | a0001c0001t0014g0068a0001c0001t0014g0085a0001c0001t0014g0125others(2): Show | 5 | 404 | 0.0124 | 0 | c.-23 others(4): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 1/11 | 7775 | chr13 | TogoVar | |||||
BIVM_chr13_102794119_102846533 | 102807191 | A | G | 5_prime_UTR_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0278 | 1 | 404 | 0.0025 | 0 | c.-77 others(3): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 3/11 | 77 | chr13 | TogoVar | |||||
BIVM_chr13_102794119_102846533 | 102807216 | CAGAT | C | 5_prime_UTR_variant | MODIFIER | HG01884.hp2 HG03130.hp2 NA18983.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0024a0001c0001t0025others(2): Show | a0001c0001t0023g0111a0001c0001t0024g0280a0001c0001t0025g0279others(2): Show | 5 | 404 | 0.0124 | -4 | c.-48 others(11): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 3/11 | 45 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||
BIVM_chr13_102794119_102846533 | 102807257 | C | T | 5_prime_UTR_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0035 | a0001c0001t0035g0103 | 1 | 404 | 0.0025 | 0 | c.-11 others(3): Show |
BIVM | ENSG00000134897.14 | transcript | ENST00000257336.6 | protein_coding | 3/11 | 11 | chr13 | TogoVar | |||||
BLID_chr11_122110340_122121215 | 122116109 | C | T | 5_prime_UTR_variant | MODIFIER | NA18961.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0000 | 1 | 434 | 0.0023 | 0 | c.-18 others(4): Show |
BLID | ENSG00000259571.2 | transcript | ENST00000560104.2 | protein_coding | 1/1 | 187 | chr11 | TogoVar | |||||
BLID_chr11_122110340_122121215 | 122116125 | C | T | 5_prime_UTR_variant | MODIFIER | HG01099.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 2 | 434 | 0.0046 | 0 | c.-20 others(4): Show |
BLID | ENSG00000259571.2 | transcript | ENST00000560104.2 | protein_coding | 1/1 | 203 | chr11 | TogoVar | |||||
BLK_chr8_11489387_11569599 | 11494403 | C | T | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(128): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(9): Show | a0001c0001t0001a0001c0001t0008a0001c0001t0010others(15): Show | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0108others(124): Show | 131 | 308 | 0.4253 | 0 | c.-19 others(4): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/13 | 48822 | chr8 | TogoVar | |||||
BLK_chr8_11489387_11569599 | 11494428 | G | T | 5_prime_UTR_variant | MODIFIER | HG03139.hp2 HG06807.hp1 |
a0001 | a0001c0004 | a0001c0004t0013 | a0001c0004t0013g0076a0001c0004t0013g0077 | 2 | 308 | 0.0065 | 0 | c.-16 others(4): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/13 | 48797 | chr8 | TogoVar | |||||
BLK_chr8_11489387_11569599 | 11494511 | G | A | 5_prime_UTR_variant | MODIFIER | HG00597.hp1 NA18965.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0110a0001c0001t0014g0111 | 2 | 308 | 0.0065 | 0 | c.-82 others(3): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/13 | 48714 | chr8 | TogoVar | |||||
BLK_chr8_11489387_11569599 | 11494547 | A | G | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(233): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(40): Show | a0001c0001t0001g0106a0001c0001t0001g0107a0001c0001t0001g0108others(225): Show | 236 | 308 | 0.7662 | 0 | c.-46 others(3): Show |
BLK | ENSG00000136573.16 | transcript | ENST00000259089.9 | protein_coding | 1/13 | 48678 | chr8 | TogoVar | |||||
BLMH_chr17_30243203_30296944 | 30291833 | C | T | 5_prime_UTR_variant | MODIFIER | HG03579.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0040 | 1 | 298 | 0.0034 | 0 | c.-14 others(3): Show |
BLMH | ENSG00000108578.15 | transcript | ENST00000261714.11 | protein_coding | 1/12 | 14 | chr17 | TogoVar | |||||
BLMH_chr17_30243203_30296944 | 30291894 | C | T | 5_prime_UTR_variant | MODIFIER | HG03453.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0039 | 1 | 298 | 0.0034 | 0 | c.-75 others(3): Show |
BLMH | ENSG00000108578.15 | transcript | ENST00000261714.11 | protein_coding | 1/12 | 75 | chr17 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90717380 | C | T | 5_prime_UTR_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0011 | a0001c0011t0011 | a0001c0011t0011g0023 | 1 | 280 | 0.0036 | 0 | c.-65 others(3): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/22 | 30013 | chr15 | TogoVar | |||||
BLM_chr15_90712346_90821166 | 90717426 | G | A | 5_prime_UTR_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0078 | 1 | 280 | 0.0036 | 0 | c.-19 others(3): Show |
BLM | ENSG00000197299.13 | transcript | ENST00000355112.8 | protein_coding | 1/22 | 29967 | chr15 | TogoVar | |||||
BLNK_chr10_96184171_96276569 | 96271403 | T | C | 5_prime_UTR_variant | MODIFIER | HG01081.hp1 HG02109.hp2 HG02572.hp1 others(6): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0021a0001c0001t0022a0001c0001t0044others(5): Show | a0001c0001t0021g0313a0001c0001t0022g0307a0001c0001t0022g0311others(6): Show | 9 | 322 | 0.0280 | 0 | c.-5A others(2): Show |
BLNK | ENSG00000095585.18 | transcript | ENST00000224337.10 | protein_coding | 1/17 | 5 | chr10 | TogoVar | |||||
BLOC1S2_chr10_100268293_100291680 | 100286662 | C | T | 5_prime_UTR_variant | MODIFIER | HG02622.hp2 HG02630.hp1 HG02717.hp2 others(3): Show |
a0001 | a0001c0004 | a0001c0004t0008a0001c0004t0015 | a0001c0004t0008g0046a0001c0004t0008g0047a0001c0004t0008g0048others(3): Show | 6 | 378 | 0.0159 | 0 | c.-3G others(2): Show |
BLOC1S2 | ENSG00000196072.12 | transcript | ENST00000370372.7 | protein_coding | 1/5 | 3 | chr10 | TogoVar | |||||
BLOC1S3_chr19_45173784_45186800 | 45178784 | A | T | 5_prime_UTR_variant | MODIFIER | HG00733.hp2 HG02572.hp1 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0034a0001c0001t0035 | a0001c0001t0021g0001a0001c0001t0034g0001a0001c0001t0035g0001 | 4 | 426 | 0.0094 | 0 | c.-57 others(3): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 1/2 | 513 | chr19 | TogoVar | |||||
BLOC1S3_chr19_45173784_45186800 | 45178800 | G | C | 5_prime_UTR_variant | MODIFIER | NA18975.hp2 | a0001 | a0001c0001 | a0001c0001t0022 | a0001c0001t0022g0001 | 1 | 426 | 0.0024 | 0 | c.-41 others(3): Show |
BLOC1S3 | ENSG00000189114.8 | transcript | ENST00000433642.3 | protein_coding | 1/2 | 497 | chr19 | TogoVar | |||||
BLOC1S6_chr15_45582379_45614708 | 45587392 | C | T | 5_prime_UTR_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0009 | 1 | 362 | 0.0028 | 0 | c.-52 others(3): Show |
BLOC1S6 | ENSG00000104164.12 | transcript | ENST00000220531.9 | protein_coding | 1/5 | 52 | chr15 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122152359 | C | T | 5_prime_UTR_variant | MODIFIER | HG03453.hp1 | a0008 | a0008c0021 | a0008c0021t0010 | a0008c0021t0010g0116 | 1 | 336 | 0.0030 | 0 | c.-34 others(4): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 1/88 | 18289 | chr4 | TogoVar | |||||
BLTP1_chr4_122147331_122367752 | 122152371 | C | T | 5_prime_UTR_variant | MODIFIER | HG01884.hp1 HG01978.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0260a0001c0001t0003g0278 | 2 | 336 | 0.0060 | 0 | c.-33 others(4): Show |
BLTP1 | ENSG00000138688.17 | transcript | ENST00000679879.1 | protein_coding | 1/88 | 18277 | chr4 | TogoVar |