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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CARD19_chr9_93091217_93118283 | 93113511 | CCACACAC others(11): Show |
C | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01192.hp2 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 3 | 358 | 0.0084 | -18 | c.*40 others(27): Show |
CARD19 | ENSG00000165233.18 | transcript | ENST00000375464.7 | protein_coding | 229 | chr9 | TogoVar | ||||||
CARD19_chr9_93091217_93118283 | 93113539 | ACACACAC others(11): Show |
A | downstream_gene_variant | MODIFIER | HG02717.hp2 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0032 | 2 | 358 | 0.0056 | -18 | c.*43 others(27): Show |
CARD19 | ENSG00000165233.18 | transcript | ENST00000375464.7 | protein_coding | 257 | chr9 | TogoVar | ||||||
CARD8_chr19_48203086_48260912 | 48220988 | AGGAAGGA others(11): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp2 HG03471.hp1 others(2): Show |
a0001a0004 | a0001c0005a0004c0018 | a0001c0005t0009a0001c0005t0019a0001c0005t0060others(1): Show | a0001c0005t0009g0256a0001c0005t0009g0257a0001c0005t0019g0325others(2): Show | 5 | 362 | 0.0138 | -18 | c.116 others(35): Show |
CARD8 | ENSG00000105483.18 | transcript | ENST00000651546.1 | protein_coding | 11/13 | chr19 | TogoVar | ||||||
CARF_chr2_202907275_202993263 | 202980616 | GTATATAT others(11): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG00738.hp2 HG01099.hp2 others(11): Show |
a0001a0003 | a0001c0001a0003c0003a0003c0007others(1): Show | a0001c0001t0002a0003c0003t0016a0003c0003t0047others(6): Show | a0001c0001t0002g0085a0001c0001t0002g0127a0003c0003t0016g0002others(10): Show | 14 | 334 | 0.0419 | -18 | c.155 others(35): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CARF_chr2_202907275_202993263 | 202986867 | CGTATATA others(11): Show |
C | 3_prime_UTR_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03834.hp1 |
a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0217a0001c0001t0029g0300a0001c0001t0029g0301 | 3 | 334 | 0.0090 | -18 | c.*32 others(29): Show |
CARF | ENSG00000138380.18 | transcript | ENST00000438828.4 | protein_coding | 17/17 | 3244 | chr2 | TogoVar | |||||
CARHSP1_chr16_8847947_8874006 | 8862000 | TTTTTTTT others(11): Show |
T | intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 470 | 0.0021 | -18 | c.-7- others(33): Show |
CARHSP1 | ENSG00000153048.11 | transcript | ENST00000311052.10 | protein_coding | 1/3 | chr16 | TogoVar | ||||||
CARM1_chr19_10866553_10928075 | 10867641 | CTTTTTTT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG02965.hp1 HG02970.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0005a0001c0005t0005 | a0001c0001t0005g0088a0001c0005t0005g0089 | 2 | 354 | 0.0057 | -18 | c.-40 others(29): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 3911 | chr19 | TogoVar | ||||||
CARM1_chr19_10866553_10928075 | 10871589 | AGCGGCGG others(11): Show |
A | 5_prime_UTR_variant | MODIFIER | HG00741.hp2 HG01074.hp1 HG01168.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0005a0001c0001t0015g0203a0001c0001t0015g0293 | 4 | 354 | 0.0113 | -18 | c.-81 others(25): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 64 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
CARM1_chr19_10866553_10928075 | 10871622 | GGCGGCGG others(11): Show |
G | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG02717.hp2 HG02895.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0002c0003t0048 | a0001c0001t0009g0064a0001c0001t0009g0085a0001c0001t0009g0086others(6): Show | 9 | 354 | 0.0254 | -18 | c.-69 others(25): Show |
CARM1 | ENSG00000142453.13 | transcript | ENST00000327064.9 | protein_coding | 1/16 | 52 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||
CARMIL1_chr6_25274374_25625530 | 25392053 | CATGTGTG others(11): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG01175.hp2 |
a0001 | a0001c0002a0001c0012 | a0001c0002t0005a0001c0012t0005 | a0001c0002t0005g0154a0001c0012t0005g0156 | 2 | 186 | 0.0108 | -18 | c.139 others(37): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 2/36 | chr6 | TogoVar | ||||||
CARMIL1_chr6_25274374_25625530 | 25442455 | AGTGTGTG others(11): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0015a0001c0003t0010 | a0001c0001t0015g0176a0001c0001t0015g0184a0001c0003t0010g0155 | 3 | 186 | 0.0161 | -18 | c.371 others(35): Show |
CARMIL1 | ENSG00000079691.19 | transcript | ENST00000329474.7 | protein_coding | 5/36 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CARNS1_chr11_67410678_67430604 | 67427073 | GTTTTTTT others(11): Show |
G | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00438.hp1 others(93): Show |
a0001a0002a0007others(3): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(32): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0007others(56): Show | 96 | 346 | 0.2775 | -18 | c.*24 others(29): Show |
CARNS1 | ENSG00000172508.11 | transcript | ENST00000687366.1 | protein_coding | 1470 | chr11 | TogoVar | ||||||
CARS2_chr13_110636417_110711116 | 110641979 | ATCACCTG others(11): Show |
A | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0067 | 1 | 372 | 0.0027 | -18 | c.162 others(35): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 14/14 | chr13 | TogoVar | ||||||
CARS2_chr13_110636417_110711116 | 110679585 | AAGAAAGA others(11): Show |
A | intron_variant | MODIFIER | NA18980.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 372 | 0.0027 | -18 | c.656 others(35): Show |
CARS2 | ENSG00000134905.17 | transcript | ENST00000257347.9 | protein_coding | 6/14 | chr13 | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41510388 | CATATATA others(11): Show |
C | downstream_gene_variant | MODIFIER | HG01433.hp1 NA19062.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0029 | a0001c0001t0001g0156a0001c0001t0029g0164 | 2 | 164 | 0.0122 | -18 | c.*10 others(31): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 4545 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41517770 | TAGCAGCA others(11): Show |
T | 3_prime_UTR_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0019 | 1 | 164 | 0.0061 | -18 | c.*26 others(29): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 27/27 | 2632 | chrX | TogoVar | |||||
CASK_chrX_41509934_41928554 | 41611610 | CCTCTCCC others(11): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG01074.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006 | a0001c0001t0001g0127a0001c0001t0001g0144a0001c0001t0001g0161others(4): Show | 7 | 164 | 0.0427 | -18 | c.103 others(37): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 11/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41829696 | GATATATA others(11): Show |
G | intron_variant | MODIFIER | HG01123.hp1 HG03471.hp1 NA19088.hp1 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0028 | a0001c0001t0001g0042a0001c0001t0001g0092a0001c0006t0028g0018 | 3 | 164 | 0.0183 | -18 | c.172 others(37): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 2/26 | chrX | TogoVar | ||||||
CASK_chrX_41509934_41928554 | 41888793 | ATATATGT others(11): Show |
A | intron_variant | MODIFIER | NA19070.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0050 | 1 | 164 | 0.0061 | -18 | c.59+ others(35): Show |
CASK | ENSG00000147044.23 | transcript | ENST00000378163.7 | protein_coding | 1/26 | chrX | TogoVar | ||||||
CASP5_chr11_104989243_105028168 | 105005352 | ATATATGT others(11): Show |
A | intron_variant | MODIFIER | HG03516.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0227 | 1 | 396 | 0.0025 | -18 | c.433 others(35): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 3/9 | chr11 | TogoVar | ||||||
CASP5_chr11_104989243_105028168 | 105009753 | ATATATAC others(11): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0046 | 1 | 396 | 0.0025 | -18 | c.8-7 others(29): Show |
CASP5 | ENSG00000137757.11 | transcript | ENST00000260315.8 | protein_coding | 1/9 | chr11 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109705993 | AAAAAAAA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01070.hp1 HG02015.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0089a0001c0001t0003g0003a0001c0001t0003g0008others(1): Show | 6 | 416 | 0.0144 | -18 | c.-26 others(29): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2549 | chr4 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109705995 | AAAAAAAA others(11): Show |
A | upstream_gene_variant | MODIFIER | HG00738.hp2 HG02074.hp1 NA18982.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0082a0001c0001t0003g0003a0001c0001t0003g0016 | 4 | 416 | 0.0096 | -18 | c.-26 others(29): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2551 | chr4 | TogoVar | ||||||
CASP6_chr4_109683628_109708445 | 109706129 | TTTTATAT others(11): Show |
T | upstream_gene_variant | MODIFIER | HG01109.hp1 HG03139.hp1 |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0035 | 2 | 416 | 0.0048 | -18 | c.-27 others(29): Show |
CASP6 | ENSG00000138794.10 | transcript | ENST00000265164.7 | protein_coding | 2685 | chr4 | TogoVar | ||||||
CASP7_chr10_113674912_113735905 | 113725541 | ATCTCTTT others(11): Show |
A | splice_region_variant others(1): Show |
LOW | HG03139.hp1 | a0005 | a0005c0009 | a0005c0009t0003 | a0005c0009t0003g0204 | 1 | 406 | 0.0025 | -18 | c.552 others(30): Show |
CASP7 | ENSG00000165806.21 | transcript | ENST00000369318.8 | protein_coding | 5/6 | chr10 | TogoVar | ||||||
CASP8_chr2_201255536_201292709 | 201281213 | CTGAGGCA others(11): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0004 | a0004c0007 | a0004c0007t0005 | a0004c0007t0005g0057 | 1 | 386 | 0.0026 | -18 | c.803 others(35): Show |
CASP8 | ENSG00000064012.24 | transcript | ENST00000673742.1 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CASQ2_chr1_115695021_115773714 | 115773214 | CTGTGTGT others(11): Show |
C | upstream_gene_variant | MODIFIER | HG03139.hp1 | a0002 | a0002c0004 | a0002c0004t0011 | a0002c0004t0011g0020 | 1 | 364 | 0.0028 | -18 | c.-46 others(29): Show |
CASQ2 | ENSG00000118729.13 | transcript | ENST00000261448.6 | protein_coding | 4501 | chr1 | TogoVar | ||||||
CASTOR2_chr7_74959705_75036528 | 74960700 | ATATATAT others(11): Show |
A | upstream_gene_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0224 | 1 | 228 | 0.0044 | -18 | c.-42 others(29): Show |
CASTOR2 | ENSG00000274070.2 | transcript | ENST00000616305.2 | protein_coding | 4004 | chr7 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96664382 | TGTGCATA others(11): Show |
T | intron_variant | MODIFIER | HG01109.hp1 | a0004 | a0004c0008 | a0004c0008t0011 | a0004c0008t0011g0238 | 1 | 358 | 0.0028 | -18 | c.75+ others(33): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 1/31 | chr5 | TogoVar | ||||||
CAST_chr5_96657376_96779683 | 96752550 | ATAACCTC others(11): Show |
A | intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0126 | 1 | 358 | 0.0028 | -18 | c.152 others(37): Show |
CAST | ENSG00000153113.24 | transcript | ENST00000675179.1 | protein_coding | 20/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CATIP_chr2_218351857_218373094 | 218365464 | CTGTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG02809.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 2 | 366 | 0.0055 | -18 | c.755 others(33): Show |
CATIP | ENSG00000158428.4 | transcript | ENST00000289388.4 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CATSPER3_chr5_134962907_135016696 | 134972910 | GCTTATAA others(11): Show |
G | intron_variant | MODIFIER | HG00438.hp1 NA18955.hp1 NA18975.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018a0001c0001t0001g0027a0001c0001t0001g0236others(3): Show | 9 | 380 | 0.0237 | -18 | c.252 others(35): Show |
CATSPER3 | ENSG00000152705.8 | transcript | ENST00000282611.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CATSPERB_chr14_91575698_91737086 | 91707575 | CTTTTTTT others(11): Show |
C | intron_variant | MODIFIER | HG01978.hp2 HG02738.hp2 HG02809.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0056a0001c0001t0001g0065a0001c0001t0001g0197others(3): Show | 6 | 271 | 0.0221 | -18 | c.466 others(33): Show |
CATSPERB | ENSG00000133962.8 | transcript | ENST00000256343.8 | protein_coding | 6/26 | chr14 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5715643 | TAAAAAAA others(11): Show |
T | upstream_gene_variant | MODIFIER | HG01258.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0246 | 1 | 336 | 0.0030 | -18 | c.-50 others(29): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4993 | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5716259 | CATATATA others(11): Show |
C | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01070.hp1 HG01517.hp1 others(6): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0004c0003t0001others(1): Show | a0001c0001t0001g0065a0001c0001t0001g0288a0002c0002t0001g0238others(6): Show | 9 | 336 | 0.0268 | -18 | c.-44 others(29): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 4377 | chr19 | TogoVar | ||||||
CATSPERD_chr19_5715637_5783734 | 5751197 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0061 | 1 | 336 | 0.0030 | -18 | c.988 others(33): Show |
CATSPERD | ENSG00000174898.16 | transcript | ENST00000381624.4 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CATSPERE_chr1_244456273_244645504 | 244557532 | CATATATA others(11): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01261.hp2 HG01884.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003a0001c0015others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0003t0002others(3): Show | a0001c0001t0001g0122a0001c0001t0003g0156a0001c0001t0003g0178others(7): Show | 10 | 206 | 0.0485 | -18 | c.103 others(37): Show |
CATSPERE | ENSG00000179397.18 | transcript | ENST00000366534.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CATSPERG_chr19_38330830_38375943 | 38344870 | CACACACA others(11): Show |
C | intron_variant | MODIFIER | HG00738.hp2 HG01069.hp2 HG01071.hp2 others(42): Show |
a0002a0007 | a0002c0003a0007c0011 | a0002c0003t0001a0007c0011t0001 | a0002c0003t0001g0029a0002c0003t0001g0043a0002c0003t0001g0046others(42): Show | 45 | 376 | 0.1197 | -18 | c.669 others(33): Show |
CATSPERG | ENSG00000099338.23 | transcript | ENST00000409235.8 | protein_coding | 6/28 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CAV1_chr7_116520036_116566179 | 116550150 | GCTCAGGT others(11): Show |
G | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 342 | 0.0029 | -18 | c.196 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | chr7 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42401689 | GAAAGAAA others(11): Show |
G | downstream_gene_variant | MODIFIER | HG01256.hp2 HG02280.hp1 HG03139.hp1 others(1): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0011a0001c0003t0006 | a0001c0001t0011g0226a0001c0003t0006g0099a0001c0003t0006g0106others(1): Show | 4 | 338 | 0.0118 | -18 | c.*29 others(29): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 759 | chr17 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42410892 | CAAAAAAA others(11): Show |
C | intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0005 | a0001c0005t0028 | a0001c0005t0028g0028 | 1 | 338 | 0.0030 | -18 | c.472 others(35): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
CAVIN1_chr17_42397449_42428256 | 42413565 | GGAAAAAA others(11): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00741.hp1 HG01109.hp1 others(28): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0011 | a0001c0001t0001a0001c0001t0006a0001c0001t0024others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0013others(21): Show | 31 | 338 | 0.0917 | -18 | c.472 others(35): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33642108 | TTTTTTTT others(11): Show |
T | intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0037a0001c0001t0040 | a0001c0001t0015g0014a0001c0001t0037g0296a0001c0001t0040g0295 | 3 | 298 | 0.0101 | -18 | c.148 others(37): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33642112 | TTTTTTGT others(11): Show |
T | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0134 | 1 | 298 | 0.0034 | -18 | c.148 others(37): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T2_chr20_33485096_33655030 | 33643753 | CTATATAT others(11): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00738.hp1 HG01346.hp2 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0002 | a0001c0001t0003g0090a0001c0001t0003g0104a0001c0001t0003g0148others(2): Show | 5 | 298 | 0.0168 | -18 | c.148 others(35): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 10/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CBFA2T3_chr16_88869858_88982207 | 88882436 | TGTGGCTG others(11): Show |
T | intron_variant | MODIFIER | HG00597.hp2 HG01168.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0159 | 2 | 284 | 0.0070 | -18 | c.120 others(35): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 8/11 | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88917853 | AGTGGGTG others(11): Show |
A | intron_variant | MODIFIER | HG01243.hp2 HG01361.hp1 HG01975.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0026 | a0001c0001t0001g0061a0001c0001t0001g0157a0001c0001t0001g0190others(4): Show | 7 | 284 | 0.0247 | -18 | c.152 others(37): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67028921 | GGGGGAAA others(11): Show |
G | upstream_gene_variant | MODIFIER | NA18975.hp1 NA18975.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084a0001c0001t0001g0141 | 2 | 212 | 0.0094 | -18 | c.-48 others(27): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 227 | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67075197 | ATGTGTGT others(11): Show |
A | intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 212 | 0.0047 | -18 | c.400 others(35): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CBLB_chr3_105650461_105874012 | 105665404 | AATAAATA others(11): Show |
A | intron_variant | MODIFIER | HG02280.hp1 NA20300.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0038 | a0001c0001t0009g0212a0001c0001t0009g0213a0001c0001t0038g0214 | 3 | 380 | 0.0079 | -18 | c.268 others(37): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 18/18 | chr3 | TogoVar |