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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRD1_chr22_49768283_49832873 | 49828585 | TGGTGGGG others(33): Show |
T | upstream_gene_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0196 | 1 | 258 | 0.0039 | -40 | c.-11 others(51): Show |
BRD1 | ENSG00000100425.19 | transcript | ENST00000404760.6 | protein_coding | 713 | chr22 | TogoVar | ||||||
BRDT_chr1_91944401_92019421 | 91945279 | AATATATA others(33): Show |
A | upstream_gene_variant | MODIFIER | HG00639.hp2 | a0004 | a0004c0004 | a0004c0004t0002 | a0004c0004t0002g0297 | 1 | 318 | 0.0031 | -40 | c.-44 others(51): Show |
BRDT | ENSG00000137948.19 | transcript | ENST00000399546.7 | protein_coding | 4121 | chr1 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190203750 | AATATATA others(33): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 240 | 0.0042 | -40 | c.961 others(59): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 6/7 | chr1 | TogoVar | ||||||
BRMS1L_chr14_35821338_35876963 | 35824806 | ACGGAGGG others(33): Show |
A | upstream_gene_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 374 | 0.0027 | -40 | c.-17 others(51): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1531 | chr14 | TogoVar | ||||||
BRMS1L_chr14_35821338_35876963 | 35824839 | CTGCCGGG others(33): Show |
C | upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 374 | 0.0027 | -40 | c.-16 others(51): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1498 | chr14 | TogoVar | ||||||
BRMS1L_chr14_35821338_35876963 | 35824854 | GCTCCTCA others(33): Show |
G | upstream_gene_variant | MODIFIER | HG00438.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 374 | 0.0027 | -40 | c.-16 others(51): Show |
BRMS1L | ENSG00000100916.14 | transcript | ENST00000216807.12 | protein_coding | 1483 | chr14 | TogoVar | ||||||
BRWD1_chr21_39180482_39318632 | 39217011 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0253 | 1 | 338 | 0.0030 | -40 | c.365 others(59): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80712877 | TGCCCCGT others(33): Show |
T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00323.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0020a0001c0001t0050a0001c0001t0052others(16): Show | a0001c0001t0020g0137a0001c0001t0050g0009a0001c0001t0052g0013others(16): Show | 19 | 265 | 0.0717 | -40 | c.232 others(59): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 20/40 | chrX | TogoVar | ||||||
BSPRY_chr9_113344541_113376222 | 113357886 | CTATATAT others(33): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp1 HG00621.hp1 others(94): Show |
a0001a0005 | a0001c0002a0001c0005a0005c0015 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(20): Show | a0001c0002t0001g0002a0001c0002t0001g0003a0001c0002t0001g0026others(73): Show | 97 | 448 | 0.2165 | -40 | c.301 others(57): Show |
BSPRY | ENSG00000119411.11 | transcript | ENST00000374183.5 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
BSX_chr11_122972570_122986834 | 122984192 | TAAGGCAA others(33): Show |
T | upstream_gene_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 422 | 0.0024 | -40 | c.-25 others(51): Show |
BSX | ENSG00000188909.5 | transcript | ENST00000343035.3 | protein_coding | 2359 | chr11 | TogoVar | ||||||
BTBD7_chr14_93232550_93338036 | 93300734 | GTGTGTGT others(33): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp1 HG02486.hp1 others(6): Show |
a0001a0007a0008 | a0001c0001a0007c0009a0008c0008 | a0001c0001t0014a0001c0001t0017a0001c0001t0057others(2): Show | a0001c0001t0014g0179a0001c0001t0014g0180a0001c0001t0014g0181others(6): Show | 9 | 375 | 0.0240 | -40 | c.-10 others(59): Show |
BTBD7 | ENSG00000011114.15 | transcript | ENST00000334746.10 | protein_coding | 1/10 | chr14 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38266605 | GGAAAGAA others(33): Show |
G | intron_variant | MODIFIER | HG02886.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0055a0001c0001t0182 | a0001c0001t0055g0097a0001c0001t0182g0095 | 2 | 224 | 0.0089 | -40 | c.145 others(61): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 8/10 | chr6 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38465721 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG02074.hp1 HG02129.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0014a0001c0001t0025a0001c0001t0031others(17): Show | a0001c0001t0014g0030a0001c0001t0025g0123a0001c0001t0031g0153others(17): Show | 20 | 224 | 0.0893 | -40 | c.115 others(63): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
BTRC_chr10_101349165_101562313 | 101415486 | TTTATGTT others(33): Show |
T | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00609.hp2 others(112): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(112): Show | 115 | 266 | 0.4323 | -40 | c.49- others(57): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
C10orf71_chr10_49294170_49332492 | 49319682 | CTATATAT others(33): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG00642.hp2 others(99): Show |
a0001a0002a0025others(3): Show | a0001c0002a0001c0011a0002c0001others(8): Show | a0001c0002t0005a0001c0011t0001a0001c0011t0002others(24): Show | a0001c0002t0005g0198a0001c0011t0001g0028a0001c0011t0002g0210others(65): Show | 102 | 424 | 0.2406 | -40 | c.-14 others(59): Show |
C10orf71 | ENSG00000177354.12 | transcript | ENST00000374144.8 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
C11orf71_chr11_114393532_114405511 | 114394174 | GTTTCGTT others(33): Show |
G | downstream_gene_variant | MODIFIER | HG02559.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0000a0001c0001t0012g0000 | 2 | 422 | 0.0047 | -40 | c.*57 others(51): Show |
C11orf71 | ENSG00000180425.11 | transcript | ENST00000623205.2 | protein_coding | 4357 | chr11 | TogoVar | ||||||
C11orf71_chr11_114393532_114405511 | 114394227 | TCTTTCTT others(33): Show |
T | downstream_gene_variant | MODIFIER | HG02647.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 2 | 422 | 0.0047 | -40 | c.*56 others(51): Show |
C11orf71 | ENSG00000180425.11 | transcript | ENST00000623205.2 | protein_coding | 4304 | chr11 | TogoVar | ||||||
C11orf98_chr11_62657817_62670210 | 62657970 | AAGAAATT others(33): Show |
A | downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0058 | 1 | 382 | 0.0026 | -40 | c.*50 others(51): Show |
C11orf98 | ENSG00000278615.5 | transcript | ENST00000524958.6 | protein_coding | 4846 | chr11 | TogoVar | ||||||
C12orf40_chr12_39621183_39726914 | 39711691 | ATGTGTAT others(33): Show |
A | intron_variant | MODIFIER | HG00738.hp1 HG01106.hp2 HG01175.hp1 others(16): Show |
a0001a0005a0009others(1): Show | a0001c0001a0001c0007a0005c0003others(2): Show | a0001c0001t0001a0001c0007t0001a0005c0003t0001others(2): Show | a0001c0001t0001g0037a0001c0001t0001g0039a0001c0001t0001g0040others(16): Show | 19 | 360 | 0.0528 | -40 | c.141 others(59): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
C12orf40_chr12_39621183_39726914 | 39712419 | CATACGTA others(33): Show |
C | intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0024 | 1 | 360 | 0.0028 | -40 | c.141 others(59): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
C12orf54_chr12_48477498_48501524 | 48500927 | ACGCTCCT others(33): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(207): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0011others(51): Show | 210 | 436 | 0.4817 | -40 | c.*47 others(51): Show |
C12orf54 | ENSG00000177627.11 | transcript | ENST00000548364.7 | protein_coding | 4404 | chr12 | TogoVar | ||||||
C13orf42_chr13_51077119_51116274 | 51077678 | CGGCCGCC others(33): Show |
C | downstream_gene_variant | MODIFIER | HG02615.hp1 HG02647.hp2 HG02818.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0223a0001c0001t0009g0247a0001c0001t0009g0248others(1): Show | 4 | 452 | 0.0089 | -40 | c.*64 others(51): Show |
C13orf42 | ENSG00000226792.8 | transcript | ENST00000563710.7 | protein_coding | 4440 | chr13 | TogoVar | ||||||
C13orf46_chr13_113948705_113979076 | 113956166 | TCCGGCGG others(33): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0093 | 1 | 414 | 0.0024 | -40 | c.*56 others(49): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | 567 | chr13 | TogoVar | |||||
C13orf46_chr13_113948705_113979076 | 113956327 | TATCTGGT others(33): Show |
T | 3_prime_UTR_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02109.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0013a0001c0001t0023others(14): Show | a0001c0001t0012g0007a0001c0001t0013g0031a0001c0001t0013g0085others(19): Show | 30 | 414 | 0.0725 | -40 | c.*40 others(49): Show |
C13orf46 | ENSG00000283199.3 | transcript | ENST00000636427.3 | protein_coding | 7/7 | 406 | chr13 | TogoVar | |||||
C16orf82_chr16_27061927_27074166 | 27068518 | GACTCTCA others(33): Show |
G | 3_prime_UTR_variant | MODIFIER | HG01496.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0000 | 1 | 442 | 0.0023 | -40 | c.*10 others(51): Show |
C16orf82 | ENSG00000234186.5 | transcript | ENST00000505035.3 | protein_coding | 1/1 | 1061 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||
C1GALT1C1L_chr2_43670151_43681429 | 43678043 | TGGCAGAG others(33): Show |
T | upstream_gene_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0000 | 1 | 396 | 0.0025 | -40 | c.-17 others(51): Show |
C1GALT1C1L | ENSG00000223658.8 | transcript | ENST00000475092.4 | protein_coding | 1615 | chr2 | TogoVar | ||||||
C1QTNF9_chr13_24304580_24327531 | 24314616 | TGAGCAGA others(33): Show |
T | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 466 | 0.0022 | -40 | c.-22 others(57): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
C1orf43_chr1_154201720_154225590 | 154203172 | AATATATA others(33): Show |
A | downstream_gene_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 374 | 0.0027 | -40 | c.*42 others(51): Show |
C1orf43 | ENSG00000143612.21 | transcript | ENST00000368521.10 | protein_coding | 3547 | chr1 | TogoVar | ||||||
C1orf56_chr1_151042751_151056420 | 151049766 | AAGGATCT others(33): Show |
A | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0012 | 1 | 342 | 0.0029 | -40 | c.100 others(57): Show |
C1orf56 | ENSG00000143443.10 | transcript | ENST00000368926.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf74_chr1_209774208_209789559 | 209778850 | TTGAAGAA others(33): Show |
T | downstream_gene_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 446 | 0.0022 | -40 | c.*39 others(51): Show |
C1orf74 | ENSG00000162757.4 | transcript | ENST00000294811.2 | protein_coding | 357 | chr1 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 278958 | GGGCGGGA others(33): Show |
G | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 410 | 0.0024 | -40 | c.465 others(55): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32146684 | GTATATAT others(33): Show |
G | downstream_gene_variant | MODIFIER | HG01167.hp1 HG02055.hp2 HG02129.hp1 others(8): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0033a0003c0003t0002g0034a0003c0003t0002g0036others(5): Show | 11 | 398 | 0.0276 | -40 | c.*28 others(51): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 2321 | chr22 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74077771 | GTATATAT others(33): Show |
G | intron_variant | MODIFIER | HG00597.hp1 HG02965.hp1 HG03139.hp1 others(3): Show |
a0001a0011 | a0001c0001a0011c0018 | a0001c0001t0001a0011c0018t0001 | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0140others(3): Show | 6 | 318 | 0.0189 | -40 | c.460 others(57): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 23/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74077807 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG02895.hp2 HG03453.hp1 NA21309.hp1 |
a0002a0003a0005 | a0002c0003a0003c0016a0005c0006 | a0002c0003t0001a0003c0016t0001a0005c0006t0001 | a0002c0003t0001g0213a0003c0016t0001g0249a0005c0006t0001g0014 | 3 | 318 | 0.0094 | -40 | c.460 others(57): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 23/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74117048 | GTATATAT others(33): Show |
G | intron_variant | MODIFIER | HG02451.hp1 HG02970.hp2 HG03579.hp2 others(2): Show |
a0001a0002a0004 | a0001c0001a0002c0003a0004c0004 | a0001c0001t0001a0002c0003t0001a0004c0004t0001 | a0001c0001t0001g0155a0002c0003t0001g0016a0002c0003t0001g0017others(2): Show | 5 | 318 | 0.0157 | -40 | c.152 others(59): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | ||||||
C2orf16_chr2_27532386_27587722 | 27540815 | ACTTCCTA others(33): Show |
A | intron_variant | MODIFIER | HG02723.hp2 HG02976.hp2 HG03130.hp2 others(1): Show |
a0015a0043 | a0015c0012a0043c0032 | a0015c0012t0001a0043c0032t0001 | a0015c0012t0001g0234a0015c0012t0001g0304a0015c0012t0001g0305others(1): Show | 4 | 326 | 0.0123 | -40 | c.144 others(57): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf16_chr2_27532386_27587722 | 27557877 | CCCCCCTC others(33): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00558.hp1 others(49): Show |
a0001a0004a0010others(8): Show | a0001c0001a0001c0051a0004c0004others(9): Show | a0001c0001t0001a0001c0051t0001a0004c0004t0001others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0031a0001c0001t0001g0034others(48): Show | 52 | 326 | 0.1595 | -40 | c.145 others(57): Show |
C2orf16 | ENSG00000221843.6 | transcript | ENST00000447166.3 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C2orf88_chr2_190175863_190208484 | 190199387 | CTTGGTAT others(33): Show |
C | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02257.hp1 others(16): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0027a0002c0002t0002g0099a0002c0002t0002g0101others(15): Show | 19 | 420 | 0.0452 | -40 | c.-16 others(57): Show |
C2orf88 | ENSG00000187699.10 | transcript | ENST00000340623.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
C3orf18_chr3_50553025_50572747 | 50556555 | AGTGTGTG others(33): Show |
A | downstream_gene_variant | MODIFIER | HG01516.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0004 | 1 | 382 | 0.0026 | -40 | c.*30 others(51): Show |
C3orf18 | ENSG00000088543.15 | transcript | ENST00000357203.8 | protein_coding | 1469 | chr3 | TogoVar | ||||||
C5AR2_chr19_47327175_47352329 | 47336421 | TTTCTTTC others(33): Show |
T | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0001 | a0001c0001t0091 | a0001c0001t0091g0148 | 1 | 406 | 0.0025 | -40 | c.-16 others(57): Show |
C5AR2 | ENSG00000134830.6 | transcript | ENST00000595464.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
C5_chr9_120947335_121055275 | 121002222 | ATATATAT others(33): Show |
A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068 | 1 | 276 | 0.0036 | -40 | c.256 others(59): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 20/40 | chr9 | TogoVar | ||||||
C5orf15_chr5_133950510_133973625 | 133971061 | CGGGAGGC others(33): Show |
C | upstream_gene_variant | MODIFIER | HG00280.hp2 HG00558.hp1 HG00621.hp1 others(52): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0006others(39): Show | 55 | 438 | 0.1256 | -40 | c.-25 others(51): Show |
C5orf15 | ENSG00000113583.8 | transcript | ENST00000231512.5 | protein_coding | 2437 | chr5 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1000402 | GACGTGCC others(33): Show |
G | intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0147 | 1 | 326 | 0.0031 | -40 | c.405 others(53): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 4/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1016216 | GCAGCACA others(33): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 326 | 0.0031 | -40 | c.130 others(57): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1037975 | GCCCCGTC others(33): Show |
G | intron_variant | MODIFIER | HG03927.hp2 NA18972.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0191a0001c0001t0004g0192 | 2 | 326 | 0.0061 | -40 | c.130 others(59): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1037997 | ACCCTCTG others(33): Show |
A | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0308 | 1 | 326 | 0.0031 | -40 | c.130 others(59): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C9orf57_chr9_72046376_72065613 | 72055400 | CCTTCCTT others(33): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02055.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0004a0002c0004t0004 | a0001c0001t0004g0050a0001c0001t0004g0144a0002c0004t0004g0148others(1): Show | 5 | 450 | 0.0111 | -40 | c.280 others(55): Show |
C9orf57 | ENSG00000204669.11 | transcript | ENST00000651200.2 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49318496 | GGGAAAGG others(33): Show |
G | intron_variant | MODIFIER | HG00323.hp1 HG02615.hp2 NA18959.hp2 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0053a0001c0002t0001g0061a0001c0002t0001g0085others(2): Show | 5 | 324 | 0.0154 | -40 | c.835 others(57): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49318502 | GGGAAAGG others(33): Show |
G | intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 | 1 | 324 | 0.0031 | -40 | c.835 others(57): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | ||||||
CABP5_chr19_48024383_48049079 | 48030874 | TCCCAGAA others(33): Show |
T | intron_variant | MODIFIER | HG01167.hp2 HG02109.hp2 HG02647.hp2 |
a0007 | a0007c0011a0007c0015 | a0007c0011t0035a0007c0015t0073 | a0007c0011t0035g0037a0007c0015t0073g0179 | 3 | 376 | 0.0080 | -40 | c.497 others(55): Show |
CABP5 | ENSG00000105507.3 | transcript | ENST00000293255.3 | protein_coding | 5/5 | chr19 | TogoVar |