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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BPIFB1_chr20_33278214_33314871 | 33295662 | G | GAGAAAGA others(41): Show |
intron_variant | MODIFIER | HG03471.hp1 NA19043.hp1 |
a0006a0011 | a0006c0007a0011c0014 | a0006c0007t0001a0011c0014t0001 | a0006c0007t0001g0233a0011c0014t0001g0213 | 2 | 388 | 0.0052 | 48 | c.598 others(65): Show |
BPIFB1 | ENSG00000125999.11 | transcript | ENST00000253354.2 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BPIFB3_chr20_33048903_33078847 | 33057478 | G | GGTCTGAA others(41): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00408.hp2 others(215): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0005a0001c0010others(13): Show | a0001c0001t0001a0001c0005t0001a0001c0010t0001others(15): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(82): Show | 218 | 374 | 0.5829 | 48 | c.269 others(63): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BPIFB3_chr20_33048903_33078847 | 33057490 | T | TGTCCCTC others(41): Show |
intron_variant | MODIFIER | HG01109.hp2 HG01496.hp1 HG01884.hp1 others(17): Show |
a0002a0003a0004 | a0002c0014a0002c0021a0003c0003others(1): Show | a0002c0014t0001a0002c0021t0001a0003c0003t0001others(1): Show | a0002c0014t0001g0062a0002c0014t0001g0063a0002c0021t0001g0053others(12): Show | 20 | 374 | 0.0535 | 48 | c.269 others(63): Show |
BPIFB3 | ENSG00000186190.8 | transcript | ENST00000375494.4 | protein_coding | 3/15 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
BPIFC_chr22_32408845_32469446 | 32424574 | T | TTTCTTCT others(41): Show |
intron_variant | MODIFIER | HG02886.hp1 HG03225.hp2 NA18522.hp2 |
a0003a0010 | a0003c0003a0010c0012 | a0003c0003t0001a0003c0003t0003a0010c0012t0002 | a0003c0003t0001g0102a0003c0003t0003g0021a0010c0012t0002g0047 | 3 | 422 | 0.0071 | 48 | c.121 others(67): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32424600 | T | TCTTCTTC others(41): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0369 | 1 | 422 | 0.0024 | 48 | c.121 others(67): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32424660 | T | TTCTTCTT others(41): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0178 | 1 | 422 | 0.0024 | 48 | c.121 others(67): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
BPIFC_chr22_32408845_32469446 | 32424663 | T | TTCTTCTT others(41): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 422 | 0.0024 | 48 | c.121 others(67): Show |
BPIFC | ENSG00000184459.10 | transcript | ENST00000300399.9 | protein_coding | 13/16 | chr22 | TogoVar | ||||||
BPNT2_chr8_56952931_56998867 | 56956044 | A | AATATATA others(41): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG02258.hp1 HG02615.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0013others(1): Show | a0001c0001t0002g0040a0001c0001t0002g0213a0001c0001t0006g0186others(2): Show | 5 | 356 | 0.0140 | 48 | c.*77 others(59): Show |
BPNT2 | ENSG00000104331.9 | transcript | ENST00000262644.9 | protein_coding | 1886 | chr8 | TogoVar | ||||||
BRAT1_chr7_2532810_2560524 | 2534238 | T | TGGGCGGG others(41): Show |
downstream_gene_variant | MODIFIER | HG03130.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0249 | 2 | 424 | 0.0047 | 48 | c.*38 others(59): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 3571 | chr7 | TogoVar | ||||||
BRAT1_chr7_2532810_2560524 | 2547004 | G | GCAACTCC others(41): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0364 | 1 | 424 | 0.0024 | 48 | c.282 others(63): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 3/13 | chr7 | TogoVar | ||||||
BRAT1_chr7_2532810_2560524 | 2547004 | G | GCGACTCC others(41): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0328 | 1 | 424 | 0.0024 | 48 | c.282 others(63): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 3/13 | chr7 | TogoVar | ||||||
BRAT1_chr7_2532810_2560524 | 2547019 | G | GTCCCAGG others(41): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(207): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0002a0001c0010others(22): Show | a0001c0001t0001a0001c0001t0007a0001c0002t0001others(25): Show | a0001c0001t0001g0126a0001c0001t0007g0382a0001c0002t0001g0002others(184): Show | 210 | 424 | 0.4953 | 48 | c.282 others(63): Show |
BRAT1 | ENSG00000106009.16 | transcript | ENST00000340611.9 | protein_coding | 3/13 | chr7 | TogoVar | ||||||
BRINP1_chr9_119161629_119374435 | 119367217 | G | GTGTGATT others(41): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0003 | a0003c0008 | a0003c0008t0001 | a0003c0008t0001g0174 | 1 | 236 | 0.0042 | 48 | c.-51 others(65): Show |
BRINP1 | ENSG00000078725.13 | transcript | ENST00000265922.8 | protein_coding | 1/7 | chr9 | TogoVar | ||||||
BRINP3_chr1_190092658_190482864 | 190482377 | A | ATATATAC others(41): Show |
upstream_gene_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0198 | 1 | 240 | 0.0042 | 48 | c.-49 others(59): Show |
BRINP3 | ENSG00000162670.11 | transcript | ENST00000367462.5 | protein_coding | 4514 | chr1 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1412811 | A | AGCCCTGG others(41): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02647.hp1 HG02976.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0014a0001c0001t0043others(2): Show | a0001c0001t0001g0048a0001c0001t0014g0039a0001c0001t0043g0050others(2): Show | 5 | 360 | 0.0139 | 48 | c.91+ others(65): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1417622 | C | CCTGTGTC others(41): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(167): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0003a0001c0004others(9): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(52): Show | a0001c0001t0001g0009a0001c0001t0001g0010a0001c0001t0001g0011others(165): Show | 170 | 360 | 0.4722 | 48 | c.92- others(65): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1417732 | C | CTGTTGGC others(41): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02647.hp1 HG02976.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0014a0001c0001t0043others(2): Show | a0001c0001t0001g0048a0001c0001t0014g0039a0001c0001t0043g0050others(2): Show | 5 | 360 | 0.0139 | 48 | c.92- others(65): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRSK2_chr11_1384934_1467689 | 1417784 | T | TGGCTGTT others(41): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01069.hp1 HG01123.hp2 others(22): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(6): Show | a0001c0001t0001g0046a0001c0001t0001g0154a0001c0001t0001g0189others(22): Show | 25 | 360 | 0.0694 | 48 | c.92- others(65): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BRWD1_chr21_39180482_39318632 | 39217023 | A | ATATATAT others(41): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0230 | 1 | 338 | 0.0030 | 48 | c.365 others(67): Show |
BRWD1 | ENSG00000185658.14 | transcript | ENST00000342449.8 | protein_coding | 31/40 | chr21 | TogoVar | ||||||
BRWD3_chrX_80664503_80814877 | 80700433 | G | GATATATA others(41): Show |
intron_variant | MODIFIER | HG03516.hp2 HG03579.hp1 NA18906.hp1 others(1): Show |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0001a0001c0001t0118a0001c0001t0148others(1): Show | a0001c0001t0001g0221a0001c0001t0118g0178a0001c0001t0148g0251others(1): Show | 4 | 265 | 0.0151 | 48 | c.283 others(65): Show |
BRWD3 | ENSG00000165288.11 | transcript | ENST00000373275.5 | protein_coding | 24/40 | chrX | TogoVar | ||||||
BSG_chr19_567596_588493 | 585300 | T | TGGGGTGC others(41): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00621.hp2 others(41): Show |
a0001 | a0001c0003a0001c0015 | a0001c0003t0001a0001c0003t0004a0001c0003t0006others(5): Show | a0001c0003t0001g0058a0001c0003t0001g0066a0001c0003t0001g0082others(28): Show | 44 | 306 | 0.1438 | 48 | c.*25 others(59): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1808 | chr19 | TogoVar | ||||||
BSG_chr19_567596_588493 | 585300 | T | TGGGGTGC others(41): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00558.hp1 others(97): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(14): Show | a0001c0001t0002g0154a0001c0001t0003g0021a0001c0001t0003g0043others(59): Show | 100 | 306 | 0.3268 | 48 | c.*25 others(59): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1808 | chr19 | TogoVar | ||||||
BSG_chr19_567596_588493 | 585300 | T | TGGGGTGC others(41): Show |
downstream_gene_variant | MODIFIER | HG02572.hp2 HG02735.hp1 HG02976.hp2 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0007a0001c0003t0006 | a0001c0001t0007g0009a0001c0001t0007g0031a0001c0003t0006g0062 | 5 | 306 | 0.0163 | 48 | c.*25 others(59): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1808 | chr19 | TogoVar | ||||||
BSG_chr19_567596_588493 | 585322 | A | ACCCCGTC others(41): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0146 | 1 | 306 | 0.0033 | 48 | c.*25 others(59): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1830 | chr19 | TogoVar | ||||||
BSG_chr19_567596_588493 | 585322 | A | ACCCCGTC others(41): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 HG01243.hp1 HG01891.hp2 others(14): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001a0001c0002t0019 | a0001c0001t0003g0025a0001c0001t0003g0041a0001c0001t0003g0048others(13): Show | 17 | 306 | 0.0556 | 48 | c.*25 others(59): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1830 | chr19 | TogoVar | ||||||
BSG_chr19_567596_588493 | 585394 | G | GGAGGGGT others(41): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 306 | 0.0033 | 48 | c.*26 others(59): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 1902 | chr19 | TogoVar | ||||||
BST2_chr19_17397939_17410630 | 17410529 | T | TATATATA others(41): Show |
upstream_gene_variant | MODIFIER | HG02135.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0021 | 1 | 412 | 0.0024 | 48 | c.-49 others(59): Show |
BST2 | ENSG00000130303.14 | transcript | ENST00000252593.7 | protein_coding | 4900 | chr19 | TogoVar | ||||||
BSX_chr11_122972570_122986834 | 122983523 | G | GAAAGAAA others(41): Show |
upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 422 | 0.0024 | 48 | c.-18 others(59): Show |
BSX | ENSG00000188909.5 | transcript | ENST00000343035.3 | protein_coding | 1690 | chr11 | TogoVar | ||||||
BTBD1_chr15_83011423_83072252 | 83042359 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0069 | 1 | 328 | 0.0031 | 48 | c.665 others(63): Show |
BTBD1 | ENSG00000064726.10 | transcript | ENST00000261721.9 | protein_coding | 3/7 | chr15 | TogoVar | ||||||
BTBD9_chr6_38163451_38644929 | 38374286 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0056 | 1 | 224 | 0.0045 | 48 | c.115 others(69): Show |
BTBD9 | ENSG00000183826.19 | transcript | ENST00000481247.6 | protein_coding | 6/10 | chr6 | TogoVar | ||||||
BZW2_chr7_16641181_16711517 | 16710704 | G | GGGAAGGA others(41): Show |
downstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0326 | 1 | 418 | 0.0024 | 48 | c.*46 others(59): Show |
BZW2 | ENSG00000136261.16 | transcript | ENST00000258761.8 | protein_coding | 4188 | chr7 | TogoVar | ||||||
C10orf90_chr10_126419997_126675693 | 126565069 | A | ATATATAA others(41): Show |
intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0012 | a0002c0012t0001 | a0002c0012t0001g0014 | 1 | 218 | 0.0046 | 48 | c.314 others(67): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
C11orf24_chr11_68256338_68276973 | 68264542 | C | CCACCCAC others(41): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0077 | 1 | 400 | 0.0025 | 48 | c.-99 others(63): Show |
C11orf24 | ENSG00000171067.11 | transcript | ENST00000304271.11 | protein_coding | 2/3 | chr11 | TogoVar | ||||||
C11orf24_chr11_68256338_68276973 | 68264542 | C | CCACCCAC others(41): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0091 | 1 | 400 | 0.0025 | 48 | c.-99 others(63): Show |
C11orf24 | ENSG00000171067.11 | transcript | ENST00000304271.11 | protein_coding | 2/3 | chr11 | TogoVar | ||||||
C11orf24_chr11_68256338_68276973 | 68264542 | C | CCATCCAC others(41): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0030 | 2 | 400 | 0.0050 | 48 | c.-99 others(63): Show |
C11orf24 | ENSG00000171067.11 | transcript | ENST00000304271.11 | protein_coding | 2/3 | chr11 | TogoVar | ||||||
C11orf24_chr11_68256338_68276973 | 68264542 | C | CCATCCAC others(41): Show |
intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0082 | 1 | 400 | 0.0025 | 48 | c.-99 others(63): Show |
C11orf24 | ENSG00000171067.11 | transcript | ENST00000304271.11 | protein_coding | 2/3 | chr11 | TogoVar | ||||||
C12orf40_chr12_39621183_39726914 | 39653558 | T | TTCTTCTT others(41): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00738.hp1 HG01358.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064a0001c0001t0001g0071a0001c0001t0001g0146others(3): Show | 6 | 360 | 0.0167 | 48 | c.686 others(65): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
C12orf40_chr12_39621183_39726914 | 39653558 | T | TTCTTCTT others(41): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00544.hp2 others(23): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0001a0002c0002t0001a0006c0006t0001 | a0001c0001t0001g0001a0001c0001t0001g0041a0001c0001t0001g0066others(20): Show | 26 | 360 | 0.0722 | 48 | c.686 others(65): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
C12orf40_chr12_39621183_39726914 | 39653558 | T | TTCTTCTT others(41): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 360 | 0.0028 | 48 | c.686 others(65): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
C12orf40_chr12_39621183_39726914 | 39711771 | G | GCACATGC others(41): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 360 | 0.0028 | 48 | c.141 others(67): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
C12orf40_chr12_39621183_39726914 | 39713238 | A | ATATGTGT others(41): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0277 | 1 | 360 | 0.0028 | 48 | c.141 others(67): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
C12orf56_chr12_64259762_64395758 | 64367304 | T | TATATATA others(41): Show |
intron_variant | MODIFIER | HG02145.hp2 HG03041.hp1 |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0018a0004c0006t0008 | a0002c0002t0018g0309a0004c0006t0008g0311 | 2 | 312 | 0.0064 | 48 | c.253 others(67): Show |
C12orf56 | ENSG00000185306.13 | transcript | ENST00000543942.7 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
C14orf132_chr14_96034362_96098971 | 96049640 | G | GTATATAT others(41): Show |
intron_variant | MODIFIER | NA18955.hp2 NA19010.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0277a0001c0001t0002g0278 | 2 | 372 | 0.0054 | 48 | c.27+ others(65): Show |
C14orf132 | ENSG00000227051.7 | transcript | ENST00000555004.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
C17orf98_chr17_38830086_38846438 | 38842871 | G | GTCTGTCT others(41): Show |
upstream_gene_variant | MODIFIER | HG01168.hp1 HG01169.hp2 NA18953.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0011a0001c0001t0001g0037others(1): Show | 4 | 431 | 0.0093 | 48 | c.-14 others(59): Show |
C17orf98 | ENSG00000275489.2 | transcript | ENST00000614158.2 | protein_coding | 1434 | chr17 | TogoVar | ||||||
C1orf100_chr1_244347635_244394663 | 244373332 | T | TTATATAT others(41): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0184 | 1 | 452 | 0.0022 | 48 | c.57- others(63): Show |
C1orf100 | ENSG00000173728.11 | transcript | ENST00000308105.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf100_chr1_244347635_244394663 | 244373332 | T | TTTTATAT others(41): Show |
intron_variant | MODIFIER | NA19066.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0420 | 1 | 452 | 0.0022 | 48 | c.57- others(63): Show |
C1orf100 | ENSG00000173728.11 | transcript | ENST00000308105.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf174_chr1_3884133_3905272 | 3892111 | C | CGGGTGGG others(41): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0125 | 1 | 440 | 0.0023 | 48 | c.129 others(63): Show |
C1orf174 | ENSG00000198912.12 | transcript | ENST00000361605.4 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 278936 | G | GAGGGCGG others(41): Show |
intron_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0374 | 1 | 410 | 0.0024 | 48 | c.465 others(63): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 278982 | G | GGAAGGGC others(41): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0227 | 1 | 410 | 0.0024 | 48 | c.465 others(63): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 278986 | C | CGGAGGGA others(41): Show |
intron_variant | MODIFIER | HG02083.hp1 HG02132.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 2 | 410 | 0.0049 | 48 | c.465 others(63): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar |