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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAVIN4_chr9_100573079_100593389 | 100589587 | CGTGTGTG others(1): Show |
C | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01243.hp2 HG01934.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007 | a0001c0001t0005g0038a0001c0001t0007g0014 | 6 | 382 | 0.0157 | -8 | c.*31 others(19): Show |
CAVIN4 | ENSG00000170681.7 | transcript | ENST00000307584.6 | protein_coding | 1199 | chr9 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33529743 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00738.hp2 HG01109.hp2 HG01167.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0032a0001c0001t0036 | a0001c0001t0004g0020a0001c0001t0004g0021a0001c0001t0004g0022others(11): Show | 14 | 298 | 0.0470 | -8 | c.34+ others(25): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33545439 | CTCTTTCT others(1): Show |
C | intron_variant | MODIFIER | HG02559.hp1 HG03491.hp2 HG03492.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0014others(1): Show | a0001c0001t0001g0228a0001c0001t0003g0135a0001c0001t0014g0184others(1): Show | 4 | 298 | 0.0134 | -8 | c.34+ others(25): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33548974 | GTCCATCC others(1): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG00738.hp2 HG01070.hp2 others(39): Show |
a0001a0003 | a0001c0001a0003c0009 | a0001c0001t0004a0001c0001t0007a0001c0001t0011others(5): Show | a0001c0001t0004g0017a0001c0001t0004g0019a0001c0001t0004g0020others(39): Show | 42 | 298 | 0.1409 | -8 | c.35- others(25): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33616078 | GAGATAGA others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00738.hp1 others(23): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0236a0001c0001t0001g0246a0001c0001t0001g0259others(23): Show | 26 | 298 | 0.0873 | -8 | c.421 others(25): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33618641 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG00438.hp1 HG00738.hp2 HG01070.hp2 others(27): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0004a0001c0001t0036a0001c0002t0017 | a0001c0001t0004g0017a0001c0001t0004g0019a0001c0001t0004g0020others(27): Show | 30 | 298 | 0.1007 | -8 | c.421 others(23): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33621287 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00323.hp2 HG00408.hp2 others(42): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0275a0001c0001t0003g0089a0001c0001t0003g0090others(42): Show | 45 | 298 | 0.1510 | -8 | c.510 others(25): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33623559 | ATGTTTGT others(1): Show |
A | intron_variant | MODIFIER | HG01981.hp2 HG02523.hp1 HG03579.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(2): Show | a0001c0001t0001g0258a0001c0001t0004g0019a0001c0001t0010g0150others(2): Show | 5 | 298 | 0.0168 | -8 | c.692 others(23): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33642105 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01169.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0032 | a0001c0001t0004g0020a0001c0001t0004g0021a0001c0001t0004g0022others(6): Show | 9 | 298 | 0.0302 | -8 | c.148 others(27): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33643753 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG03017.hp2 HG03195.hp2 HG03453.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0007a0001c0001t0014others(3): Show | a0001c0001t0003g0115a0001c0001t0007g0010a0001c0001t0014g0293others(4): Show | 7 | 298 | 0.0235 | -8 | c.148 others(25): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33643825 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp1 HG00738.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0006 | a0001c0001t0004g0017a0001c0001t0004g0020a0001c0001t0004g0021others(10): Show | 13 | 298 | 0.0436 | -8 | c.148 others(25): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T3_chr16_88869858_88982207 | 88964909 | TATCCATC others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00738.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0018others(1): Show | a0001c0001t0001a0001c0001t0031a0001c0002t0005others(2): Show | a0001c0001t0001g0006a0001c0001t0001g0009a0001c0001t0001g0015others(13): Show | 16 | 284 | 0.0563 | -8 | c.151 others(27): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88979925 | ATAAATGG others(1): Show |
A | upstream_gene_variant | MODIFIER | HG02109.hp2 HG02257.hp1 HG02451.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003a0001c0009 | a0001c0001t0001a0001c0001t0025a0001c0003t0011others(1): Show | a0001c0001t0001g0108a0001c0001t0025g0099a0001c0003t0011g0007others(1): Show | 4 | 284 | 0.0141 | -8 | c.-31 others(19): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 2719 | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67028189 | TAAAAAAA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02145.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011a0001c0001t0002g0012a0001c0001t0002g0013others(13): Show | 16 | 212 | 0.0755 | -8 | c.-12 others(19): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 959 | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67098114 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0013 | a0001c0001t0002g0004a0001c0001t0002g0005a0001c0001t0002g0006others(30): Show | 33 | 212 | 0.1557 | -8 | c.496 others(23): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CBLB_chr3_105650461_105874012 | 105665412 | AATAAATA others(1): Show |
A | intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0250a0001c0001t0004g0251a0001c0001t0004g0252 | 3 | 380 | 0.0079 | -8 | c.268 others(27): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 18/18 | chr3 | TogoVar | ||||||
CBLB_chr3_105650461_105874012 | 105669065 | AATCCATC others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00438.hp1 others(94): Show |
a0001a0006a0007others(2): Show | a0001c0002a0001c0004a0001c0012others(4): Show | a0001c0002t0002a0001c0002t0007a0001c0002t0008others(14): Show | a0001c0002t0002g0171a0001c0002t0002g0172a0001c0002t0002g0191others(94): Show | 97 | 380 | 0.2553 | -8 | c.268 others(27): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 18/18 | chr3 | TogoVar | ||||||
CBLB_chr3_105650461_105874012 | 105754515 | GAGAGAGA others(1): Show |
G | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG01517.hp2 others(37): Show |
a0001a0007 | a0001c0001a0001c0016a0007c0018 | a0001c0001t0003a0001c0001t0016a0001c0001t0019others(6): Show | a0001c0001t0003g0111a0001c0001t0003g0116a0001c0001t0003g0117others(37): Show | 40 | 380 | 0.1053 | -8 | c.567 others(25): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4/18 | chr3 | TogoVar | ||||||
CBLB_chr3_105650461_105874012 | 105781541 | TTAAATGA others(1): Show |
T | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00609.hp2 others(94): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0012others(3): Show | a0001c0001t0003a0001c0001t0016a0001c0001t0019others(14): Show | a0001c0001t0003g0111a0001c0001t0003g0115a0001c0001t0003g0116others(94): Show | 97 | 380 | 0.2553 | -8 | c.420 others(25): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | ||||||
CBLB_chr3_105650461_105874012 | 105782578 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00438.hp2 HG00609.hp2 HG00733.hp1 others(79): Show |
a0001a0009 | a0001c0001a0001c0002a0001c0012others(3): Show | a0001c0001t0003a0001c0001t0016a0001c0001t0019others(13): Show | a0001c0001t0003g0111a0001c0001t0003g0115a0001c0001t0003g0116others(79): Show | 82 | 380 | 0.2158 | -8 | c.420 others(25): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | ||||||
CBLB_chr3_105650461_105874012 | 105795939 | GTCTCTAA others(1): Show |
G | intron_variant | MODIFIER | HG00733.hp1 HG00741.hp2 HG01106.hp1 others(25): Show |
a0001a0009 | a0001c0002a0009c0022 | a0001c0002t0007a0001c0002t0010a0001c0002t0017others(2): Show | a0001c0002t0007g0004a0001c0002t0007g0007a0001c0002t0007g0008others(25): Show | 28 | 380 | 0.0737 | -8 | c.420 others(27): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 3/18 | chr3 | TogoVar | ||||||
CBLC_chr19_44772890_44805652 | 44785532 | GTAGATAG others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00438.hp2 others(48): Show |
a0000a0001a0002others(2): Show | a0000c0002a0000c0007a0001c0001others(6): Show | a0000c0002t0001a0000c0007t0001a0001c0001t0001others(6): Show | a0000c0002t0001g0049a0000c0002t0001g0063a0000c0007t0001g0057others(46): Show | 51 | 344 | 0.1483 | -8 | c.917 others(25): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CBLC_chr19_44772890_44805652 | 44798197 | TTTTGTTT others(1): Show |
T | intron_variant | MODIFIER | HG02056.hp1 HG02071.hp1 HG02135.hp2 others(14): Show |
a0000a0001 | a0000c0002a0001c0001 | a0000c0002t0001a0001c0001t0001 | a0000c0002t0001g0012a0000c0002t0001g0034a0000c0002t0001g0037others(13): Show | 17 | 344 | 0.0494 | -8 | c.136 others(27): Show |
CBLC | ENSG00000142273.13 | transcript | ENST00000647358.2 | protein_coding | 9/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CBLIF_chr11_59824273_59850499 | 59834240 | TTTTCTTT others(1): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp2 HG00673.hp2 others(23): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0004others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0004t0001others(1): Show | a0001c0001t0001g0039a0001c0001t0001g0055a0001c0001t0001g0088others(18): Show | 26 | 342 | 0.0760 | -8 | c.107 others(27): Show |
CBLIF | ENSG00000134812.8 | transcript | ENST00000257248.3 | protein_coding | 7/8 | chr11 | TogoVar | ||||||
CBLL1_chr7_107739142_107766667 | 107750865 | AGACCATA others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(210): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0007others(57): Show | 213 | 432 | 0.4931 | -8 | c.181 others(25): Show |
CBLL1 | ENSG00000105879.13 | transcript | ENST00000440859.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CBLL1_chr7_107739142_107766667 | 107764446 | TTGTGTGT others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00544.hp2 HG01256.hp1 HG01258.hp1 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0009a0001c0001t0001g0081others(7): Show | 33 | 432 | 0.0764 | -8 | c.*52 others(19): Show |
CBLL1 | ENSG00000105879.13 | transcript | ENST00000440859.8 | protein_coding | 2780 | chr7 | TogoVar | ||||||
CBLL2_chrX_22267913_22279461 | 22271960 | GTTTTTTT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG01496.hp1 HG02717.hp1 HG02965.hp1 others(2): Show |
a0002a0005 | a0002c0002a0005c0007 | a0002c0002t0001a0005c0007t0001 | a0002c0002t0001g0000a0005c0007t0001g0000 | 5 | 346 | 0.0145 | -8 | c.-10 others(19): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 952 | chrX | TogoVar | ||||||
CBLN2_chr18_72531681_72549342 | 72542909 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG01192.hp2 HG01975.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003a0001c0002t0006others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0136a0001c0002t0003g0065others(5): Show | 18 | 416 | 0.0433 | -8 | c.-16 others(25): Show |
CBLN2 | ENSG00000141668.10 | transcript | ENST00000269503.9 | protein_coding | 2/4 | chr18 | TogoVar | ||||||
CBLN2_chr18_72531681_72549342 | 72547110 | TCACACAC others(1): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp1 HG01069.hp2 HG01099.hp2 others(41): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0010 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(23): Show | 44 | 416 | 0.1058 | -8 | c.-33 others(19): Show |
CBLN2 | ENSG00000141668.10 | transcript | ENST00000269503.9 | protein_coding | 2769 | chr18 | TogoVar | ||||||
CBLN4_chr20_55992357_56010519 | 56006967 | CAAAAAAA others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00408.hp1 others(106): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(9): Show | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0002g0002others(17): Show | 109 | 426 | 0.2559 | -8 | c.-28 others(19): Show |
CBLN4 | ENSG00000054803.4 | transcript | ENST00000064571.3 | protein_coding | 1449 | chr20 | TogoVar | ||||||
CBLN4_chr20_55992357_56010519 | 56010246 | GTCTCTCT others(1): Show |
G | upstream_gene_variant | MODIFIER | HG00544.hp1 HG01069.hp1 HG01071.hp1 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0001a0001c0001t0004g0006a0001c0001t0004g0071others(10): Show | 25 | 426 | 0.0587 | -8 | c.-60 others(19): Show |
CBLN4 | ENSG00000054803.4 | transcript | ENST00000064571.3 | protein_coding | 4728 | chr20 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119216339 | AATTTATT others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG02015.hp1 HG02257.hp1 others(5): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0010a0001c0002t0022others(2): Show | a0001c0001t0001g0178a0001c0001t0001g0230a0001c0001t0010g0363others(5): Show | 8 | 364 | 0.0220 | -8 | c.195 others(25): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CBL_chr11_119201339_119313149 | 119227122 | ACCATTCT others(1): Show |
A | intron_variant | MODIFIER | HG02257.hp1 HG02630.hp2 HG02723.hp2 others(4): Show |
a0001a0003 | a0001c0001a0003c0005 | a0001c0001t0008a0001c0001t0010a0001c0001t0046others(1): Show | a0001c0001t0008g0342a0001c0001t0008g0343a0001c0001t0008g0344others(4): Show | 7 | 364 | 0.0192 | -8 | c.196 others(25): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 1/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CBL_chr11_119201339_119313149 | 119245956 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG02055.hp2 HG02109.hp2 others(8): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0002a0001c0001t0019a0001c0001t0031others(1): Show | a0001c0001t0002g0262a0001c0001t0002g0263a0001c0001t0002g0266others(8): Show | 11 | 364 | 0.0302 | -8 | c.443 others(27): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CBL_chr11_119201339_119313149 | 119252699 | TACAAACA others(1): Show |
T | intron_variant | MODIFIER | HG02818.hp2 HG03453.hp2 HG04199.hp1 |
a0001 | a0001c0004 | a0001c0004t0015 | a0001c0004t0015g0013a0001c0004t0015g0014a0001c0004t0015g0016 | 3 | 364 | 0.0082 | -8 | c.444 others(27): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CBL_chr11_119201339_119313149 | 119264460 | CTCTTTTC others(1): Show |
C | intron_variant | MODIFIER | HG00741.hp2 HG02559.hp2 HG03098.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0031 | a0001c0001t0002g0267a0001c0001t0002g0268a0001c0001t0002g0269others(2): Show | 5 | 364 | 0.0137 | -8 | c.444 others(25): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CBL_chr11_119201339_119313149 | 119270436 | ATTTTTTT others(1): Show |
A | intron_variant | MODIFIER | HG02572.hp2 HG02738.hp2 HG02897.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0166a0001c0001t0001g0169a0001c0001t0001g0173others(5): Show | 8 | 364 | 0.0220 | -8 | c.444 others(25): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CBL_chr11_119201339_119313149 | 119283625 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp2 HG00408.hp1 others(105): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0007a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(15): Show | a0001c0001t0001g0212a0001c0001t0001g0226a0001c0001t0001g0249others(105): Show | 108 | 364 | 0.2967 | -8 | c.143 others(27): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CBR1_chr21_36065024_36078164 | 36069976 | CGCTCAGC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02055.hp2 HG02257.hp1 HG02258.hp1 others(11): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0006a0001c0001t0001g0026a0001c0003t0001g0006 | 14 | 430 | 0.0326 | -8 | c.-13 others(17): Show |
CBR1 | ENSG00000159228.13 | transcript | ENST00000290349.11 | protein_coding | 47 | chr21 | TogoVar | ||||||
CBR1_chr21_36065024_36078164 | 36074349 | ATTTGTTT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG00741.hp2 HG01099.hp1 HG01123.hp1 others(3): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0004t0001 | a0001c0001t0001g0004a0001c0004t0001g0004a0001c0004t0001g0031others(1): Show | 6 | 430 | 0.0140 | -8 | c.*14 others(19): Show |
CBR1 | ENSG00000159228.13 | transcript | ENST00000290349.11 | protein_coding | 1186 | chr21 | TogoVar | ||||||
CBR3_chr21_36130079_36151562 | 36133766 | TAAAAAAA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01070.hp2 HG01346.hp2 HG01515.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0008 | a0001c0001t0001a0003c0008t0002 | a0001c0001t0001g0007a0001c0001t0001g0209a0001c0001t0001g0230others(3): Show | 6 | 424 | 0.0142 | -8 | c.-14 others(19): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 1312 | chr21 | TogoVar | ||||||
CBR3_chr21_36130079_36151562 | 36137027 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp2 others(84): Show |
a0001a0007 | a0001c0001a0001c0004a0001c0009others(1): Show | a0001c0001t0001a0001c0004t0001a0001c0009t0004others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0012others(54): Show | 87 | 424 | 0.2052 | -8 | c.290 others(23): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CBR3_chr21_36130079_36151562 | 36137503 | AAAGGAAG others(1): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG01346.hp2 HG02109.hp1 others(17): Show |
a0001a0003a0005 | a0001c0001a0001c0004a0003c0003others(2): Show | a0001c0001t0001a0001c0004t0001a0003c0003t0001others(2): Show | a0001c0001t0001g0022a0001c0001t0001g0055a0001c0001t0001g0196others(15): Show | 20 | 424 | 0.0472 | -8 | c.290 others(23): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
CBS_chr21_43048191_43080835 | 43077865 | CCACACAC others(1): Show |
C | upstream_gene_variant | MODIFIER | HG02647.hp2 HG03195.hp1 NA18906.hp2 others(1): Show |
a0003 | a0003c0005 | a0003c0005t0007 | a0003c0005t0007g0019a0003c0005t0007g0122a0003c0005t0007g0133 | 4 | 298 | 0.0134 | -8 | c.-21 others(19): Show |
CBS | ENSG00000160200.18 | transcript | ENST00000398165.8 | protein_coding | 2031 | chr21 | TogoVar | ||||||
CBX1_chr17_48065059_48106478 | 48084202 | CTTTTTTT others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00323.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0327a0001c0001t0004g0328a0001c0001t0004g0329others(17): Show | 20 | 396 | 0.0505 | -8 | c.-37 others(25): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 1/4 | chr17 | TogoVar | ||||||
CBX1_chr17_48065059_48106478 | 48105324 | CTTTTTTT others(1): Show |
C | upstream_gene_variant | MODIFIER | HG00558.hp2 HG00673.hp1 HG00673.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127a0001c0001t0001g0130a0001c0001t0001g0131others(14): Show | 17 | 396 | 0.0429 | -8 | c.-41 others(19): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 3847 | chr17 | TogoVar | ||||||
CBX3_chr7_26196745_26218607 | 26212580 | TTTTGTGT others(1): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01071.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0020 | a0001c0001t0007g0041a0001c0001t0007g0042a0001c0001t0007g0053others(14): Show | 22 | 410 | 0.0537 | -8 | c.*37 others(17): Show |
CBX3 | ENSG00000122565.19 | transcript | ENST00000396386.7 | protein_coding | 6/6 | 374 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||
CBX4_chr17_79828156_79844440 | 79828524 | TCACACAC others(1): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp2 HG01109.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0101others(3): Show | 10 | 420 | 0.0238 | -8 | c.*54 others(19): Show |
CBX4 | ENSG00000141582.15 | transcript | ENST00000269397.9 | protein_coding | 4631 | chr17 | TogoVar | ||||||
CC2D1A_chr19_13901201_13935879 | 13913832 | TTATTATG others(1): Show |
T | intron_variant | MODIFIER | HG02280.hp1 HG02630.hp2 HG02922.hp2 others(2): Show |
a0001a0013 | a0001c0006a0013c0015 | a0001c0006t0001a0013c0015t0001 | a0001c0006t0001g0158a0001c0006t0001g0159a0001c0006t0001g0285others(2): Show | 5 | 370 | 0.0135 | -8 | c.748 others(23): Show |
CC2D1A | ENSG00000132024.18 | transcript | ENST00000318003.11 | protein_coding | 6/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CC2D2A_chr4_15464882_15606552 | 15470689 | CTATATAT others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG01257.hp1 HG01433.hp1 others(19): Show |
a0001a0002 | a0001c0001a0001c0006a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0006t0001others(3): Show | a0001c0001t0001g0011a0001c0001t0001g0044a0001c0001t0001g0220others(19): Show | 22 | 344 | 0.0640 | -8 | c.-19 others(23): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |