view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCT6B_chr17_34922861_34966460 | 34965300 | ATTATTTT others(34): Show |
A | upstream_gene_variant | MODIFIER | NA19004.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0130 | 1 | 402 | 0.0025 | -41 | c.-39 others(52): Show |
CCT6B | ENSG00000132141.14 | transcript | ENST00000314144.10 | protein_coding | 3841 | chr17 | TogoVar | |||||||
CCZ1B_chr7_6793937_6831275 | 6794033 | GCTCACCT others(34): Show |
G | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00639.hp2 HG00735.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0004a0001c0002t0001others(1): Show | a0001c0001t0002g0005a0001c0001t0002g0025a0001c0001t0002g0218others(14): Show | 21 | 354 | 0.0593 | -41 | c.*51 others(52): Show |
CCZ1B | ENSG00000146574.16 | transcript | ENST00000316731.13 | protein_coding | 4903 | chr7 | TogoVar | |||||||
CCZ1B_chr7_6793937_6831275 | 6794117 | TCACCTTT others(34): Show |
T | downstream_gene_variant | MODIFIER | NA19072.hp1 | a0005 | a0005c0008 | a0005c0008t0006 | a0005c0008t0006g0168 | 1 | 354 | 0.0028 | -41 | c.*50 others(52): Show |
CCZ1B | ENSG00000146574.16 | transcript | ENST00000316731.13 | protein_coding | 4819 | chr7 | TogoVar | |||||||
CCZ1B_chr7_6793937_6831275 | 6794142 | GGGGCTGT others(34): Show |
G | downstream_gene_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0010 | 1 | 354 | 0.0028 | -41 | c.*50 others(52): Show |
CCZ1B | ENSG00000146574.16 | transcript | ENST00000316731.13 | protein_coding | 4794 | chr7 | TogoVar | |||||||
CCZ1_chr7_5893733_5931550 | 5930783 | ACCTAGCA others(34): Show |
A | downstream_gene_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 114 | 0.0088 | -41 | c.*50 others(52): Show |
CCZ1 | ENSG00000122674.12 | transcript | ENST00000325974.9 | protein_coding | 4234 | chr7 | TogoVar | |||||||
CD163_chr12_7465811_7508777 | 7491160 | TATTTTCT others(34): Show |
T | intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0275 | 1 | 428 | 0.0023 | -41 | c.142 others(60): Show |
CD163 | ENSG00000177575.13 | transcript | ENST00000432237.3 | protein_coding | 6/16 | chr12 | TogoVar | |||||||
CD1E_chr1_158348894_158362553 | 158360138 | CTCTTCTC others(34): Show |
C | downstream_gene_variant | MODIFIER | NA18943.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 436 | 0.0023 | -41 | c.*32 others(52): Show |
CD1E | ENSG00000158488.16 | transcript | ENST00000368167.8 | protein_coding | 2586 | chr1 | TogoVar | |||||||
CD99L2_chrX_150761336_150903668 | 150798144 | AAGGGAGG others(34): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG03831.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115a0001c0001t0001g0186 | 2 | 212 | 0.0094 | -41 | c.278 others(58): Show |
CD99L2 | ENSG00000102181.22 | transcript | ENST00000370377.8 | protein_coding | 4/10 | chrX | TogoVar | |||||||
CDC20B_chr5_55107971_55178177 | 55147173 | TTGTTTTA others(34): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00140.hp2 others(286): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0011others(20): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(227): Show | 289 | 330 | 0.8758 | -41 | c.127 others(56): Show |
CDC20B | ENSG00000164287.13 | transcript | ENST00000381375.7 | protein_coding | 2/11 | chr5 | TogoVar | |||||||
CDC42BPA_chr1_226984865_227323492 | 227038162 | ATAGTGAT others(34): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00639.hp2 HG00642.hp2 others(38): Show |
a0001a0008a0011 | a0001c0006a0001c0008a0008c0014others(1): Show | a0001c0006t0008a0001c0006t0012a0001c0006t0027others(8): Show | a0001c0006t0008g0321a0001c0006t0008g0322a0001c0006t0008g0333others(38): Show | 41 | 352 | 0.1165 | -41 | c.319 others(60): Show |
CDC42BPA | ENSG00000143776.20 | transcript | ENST00000366766.8 | protein_coding | 24/36 | chr1 | TogoVar | |||||||
CDC42_chr1_22047709_22106360 | 22054915 | ATATATAT others(34): Show |
A | intron_variant | MODIFIER | NA20752.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0046 | 1 | 352 | 0.0028 | -41 | c.-51 others(58): Show |
CDC42 | ENSG00000070831.18 | transcript | ENST00000656825.1 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CDC73_chr1_193117031_193259815 | 193162033 | TATTATAT others(34): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG01981.hp1 NA18942.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0006others(10): Show | 13 | 274 | 0.0475 | -41 | c.972 others(58): Show |
CDC73 | ENSG00000134371.14 | transcript | ENST00000367435.5 | protein_coding | 10/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CDCP1_chr3_45077277_45151378 | 45118458 | GCAGCTAA others(34): Show |
G | frameshift_variant | HIGH | NA19043.hp2 | a0008 | a0008c0018 | a0008c0018t0018 | a0008c0018t0018g0149 | 1 | 384 | 0.0026 | -41 | c.205 others(48): Show |
p.Ser others(4): Show |
CDCP1 | ENSG00000163814.8 | transcript | ENST00000296129.6 | protein_coding | 2/9 | 336/5963 | 205/2511 | 69/836 | chr3 | TogoVar | |||
CDH13_chr16_82621969_83805640 | 82904854 | ACTAAATG others(34): Show |
A | intron_variant | MODIFIER | HG02622.hp2 HG03195.hp1 |
a0001 | a0001c0005 | a0001c0005t0039a0001c0005t0047 | a0001c0005t0039g0017a0001c0005t0047g0078 | 2 | 110 | 0.0182 | -41 | c.157 others(60): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 2/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH13_chr16_82621969_83805640 | 83201400 | TTTCTTTC others(34): Show |
T | intron_variant | MODIFIER | HG03041.hp1 NA19240.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0036a0001c0006t0031 | a0001c0001t0036g0002a0001c0006t0031g0005 | 2 | 110 | 0.0182 | -41 | c.484 others(60): Show |
CDH13 | ENSG00000140945.17 | transcript | ENST00000567109.6 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH20_chr18_61328430_61560779 | 61390719 | CAGGGAAG others(34): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 280 | 0.0036 | -41 | c.-15 others(62): Show |
CDH20 | ENSG00000101542.10 | transcript | ENST00000262717.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CDH20_chr18_61328430_61560779 | 61390749 | GTTGCCTA others(34): Show |
G | intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0275 | 1 | 280 | 0.0036 | -41 | c.-15 others(62): Show |
CDH20 | ENSG00000101542.10 | transcript | ENST00000262717.9 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CDH3_chr16_68640310_68705292 | 68683665 | AAAAAAAA others(34): Show |
A | intron_variant | MODIFIER | HG01978.hp1 HG02027.hp1 HG04199.hp1 others(1): Show |
a0001 | a0001c0001a0001c0010 | a0001c0001t0003a0001c0001t0017a0001c0010t0003 | a0001c0001t0003g0251a0001c0001t0017g0114a0001c0010t0003g0048others(1): Show | 4 | 338 | 0.0118 | -41 | c.118 others(58): Show |
CDH3 | ENSG00000062038.15 | transcript | ENST00000264012.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDK12_chr17_39456486_39539544 | 39499185 | TTCTTTCT others(34): Show |
T | intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0255 | 1 | 260 | 0.0039 | -41 | c.242 others(60): Show |
CDK12 | ENSG00000167258.16 | transcript | ENST00000447079.6 | protein_coding | 5/13 | chr17 | TogoVar | |||||||
CDK14_chr7_90591321_91215590 | 90649365 | CTTTCCTT others(34): Show |
C | intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0039 | 1 | 168 | 0.0060 | -41 | c.123 others(60): Show |
CDK14 | ENSG00000058091.17 | transcript | ENST00000380050.8 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CDK15_chr2_201801537_201900550 | 201837432 | GGGAAGGA others(34): Show |
G | intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0226 | 1 | 322 | 0.0031 | -41 | c.851 others(58): Show |
CDK15 | ENSG00000138395.17 | transcript | ENST00000652192.3 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CDK19_chr6_110604978_110820469 | 110643925 | AAATTTTA others(34): Show |
A | intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0030 | 1 | 300 | 0.0033 | -41 | c.457 others(58): Show |
CDK19 | ENSG00000155111.15 | transcript | ENST00000368911.8 | protein_coding | 4/12 | chr6 | TogoVar | |||||||
CDK2AP1_chr12_123255976_123276856 | 123274770 | GGAAGGAA others(34): Show |
G | upstream_gene_variant | MODIFIER | HG03688.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0024 | 1 | 328 | 0.0031 | -41 | c.-31 others(52): Show |
CDK2AP1 | ENSG00000111328.7 | transcript | ENST00000261692.7 | protein_coding | 2915 | chr12 | TogoVar | |||||||
CDKAL1_chr6_20529457_21237404 | 20864222 | TAACTGCA others(34): Show |
T | intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0156 | 1 | 196 | 0.0051 | -41 | c.742 others(60): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CEACAM20_chr19_44501159_44534675 | 44532540 | AAAGGAAA others(34): Show |
A | upstream_gene_variant | MODIFIER | NA18967.hp2 | a0009 | a0009c0007 | a0009c0007t0001 | a0009c0007t0001g0060 | 1 | 438 | 0.0023 | -41 | c.-30 others(52): Show |
CEACAM20 | ENSG00000273777.6 | transcript | ENST00000614924.5 | protein_coding | 2866 | chr19 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17419529 | GAGGAAGA others(34): Show |
G | intron_variant | MODIFIER | HG02486.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0028 | a0001c0001t0003g0203a0001c0001t0028g0255 | 2 | 324 | 0.0062 | -41 | c.126 others(60): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92527736 | TATTGTGA others(34): Show |
T | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0014 | 1 | 260 | 0.0039 | -41 | c.565 others(60): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80704684 | ATAAAATT others(34): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00735.hp2 HG01123.hp1 others(20): Show |
a0001a0008a0009 | a0001c0001a0001c0019a0008c0011others(1): Show | a0001c0001t0002a0001c0001t0006a0001c0019t0002others(2): Show | a0001c0001t0002g0099a0001c0001t0002g0102a0001c0001t0002g0104others(20): Show | 23 | 164 | 0.1402 | -41 | c.280 others(62): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81188437 | CAAGGGGA others(34): Show |
C | downstream_gene_variant | MODIFIER | HG02451.hp1 | a0002 | a0002c0047 | a0002c0047t0002 | a0002c0047t0002g0034 | 1 | 384 | 0.0026 | -41 | c.*12 others(52): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 1158 | chr17 | TogoVar | |||||||
CFAP298_chr21_32594354_32617377 | 32612257 | AGGTACTG others(34): Show |
A | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG02056.hp2 HG02738.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0014a0001c0001t0012g0220 | 6 | 416 | 0.0144 | -41 | c.-55 others(48): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1/7 | 15 | chr21 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132888686 | CTGCCACC others(34): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp1 NA18940.hp2 |
a0011a0019 | a0011c0010a0019c0020 | a0011c0010t0001a0019c0020t0001 | a0011c0010t0001g0208a0019c0020t0001g0149a0019c0020t0001g0150 | 3 | 246 | 0.0122 | -41 | c.330 others(60): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132888792 | GCCTGCAC others(34): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG02886.hp1 |
a0038a0064 | a0038c0037a0064c0101 | a0038c0037t0001a0064c0101t0002 | a0038c0037t0001g0230a0064c0101t0002g0022 | 2 | 246 | 0.0081 | -41 | c.330 others(60): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 25/57 | chr10 | TogoVar | |||||||
CFAP46_chr10_132803392_132947570 | 132896112 | TGGTGAGA others(34): Show |
T | intron_variant | MODIFIER | HG04184.hp1 | a0020 | a0020c0017 | a0020c0017t0001 | a0020c0017t0001g0148 | 1 | 246 | 0.0041 | -41 | c.321 others(60): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 24/57 | chr10 | TogoVar | |||||||
CFAP52_chr17_9571642_9648447 | 9629685 | TTACAGGC others(34): Show |
T | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp2 HG02895.hp2 others(4): Show |
a0001 | a0001c0004a0001c0005 | a0001c0004t0004a0001c0005t0001a0001c0005t0004 | a0001c0004t0004g0001a0001c0004t0004g0036a0001c0004t0004g0199others(3): Show | 7 | 316 | 0.0222 | -41 | c.117 others(58): Show |
CFAP52 | ENSG00000166596.15 | transcript | ENST00000352665.10 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
CFAP77_chr9_132405211_132578319 | 132486035 | TATATATG others(34): Show |
T | intron_variant | MODIFIER | HG03654.hp2 NA18953.hp1 NA18964.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0003t0001 | a0001c0001t0001g0293a0001c0001t0004g0290a0002c0003t0001g0018others(1): Show | 4 | 322 | 0.0124 | -41 | c.196 others(60): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132486037 | TATATGTA others(34): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01109.hp1 HG01256.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001 | a0001c0001t0001g0010a0001c0001t0001g0046a0001c0001t0001g0096others(5): Show | 8 | 322 | 0.0248 | -41 | c.196 others(60): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
CFAP77_chr9_132405211_132578319 | 132486039 | TATGTATG others(34): Show |
T | intron_variant | MODIFIER | NA18979.hp2 | a0006 | a0006c0018 | a0006c0018t0001 | a0006c0018t0001g0186 | 1 | 322 | 0.0031 | -41 | c.196 others(60): Show |
CFAP77 | ENSG00000188523.9 | transcript | ENST00000393216.3 | protein_coding | 1/5 | chr9 | TogoVar | |||||||
CHD5_chr1_6096787_6185321 | 6174895 | AGATGGTG others(34): Show |
A | intron_variant | MODIFIER | HG02258.hp1 HG03098.hp2 |
a0001 | a0001c0008 | a0001c0008t0012 | a0001c0008t0012g0222a0001c0008t0012g0223 | 2 | 320 | 0.0063 | -41 | c.79+ others(56): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 1/41 | chr1 | TogoVar | |||||||
CHID1_chr11_862859_915810 | 896587 | ACCCCCAG others(34): Show |
A | intron_variant | MODIFIER | HG02015.hp2 HG02083.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0027 | 2 | 386 | 0.0052 | -41 | c.608 others(58): Show |
CHID1 | ENSG00000177830.18 | transcript | ENST00000323578.13 | protein_coding | 7/12 | chr11 | TogoVar | |||||||
CHML_chr1_241623851_241645369 | 241639739 | GAGCGGGG others(34): Show |
G | intron_variant | MODIFIER | NA18991.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0048 | 1 | 452 | 0.0022 | -41 | c.-30 others(58): Show |
CHML | ENSG00000203668.3 | transcript | ENST00000366553.3 | protein_coding | 1/1 | chr1 | TogoVar | |||||||
CHST13_chr3_126519155_126548291 | 126545952 | TTCACTTT others(34): Show |
T | downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0069 | 1 | 364 | 0.0028 | -41 | c.*33 others(52): Show |
CHST13 | ENSG00000180767.11 | transcript | ENST00000319340.7 | protein_coding | 2662 | chr3 | TogoVar | |||||||
CHTOP_chr1_153629066_153651306 | 153646621 | ATGCAGGG others(34): Show |
A | downstream_gene_variant | MODIFIER | NA19043.hp1 NA21309.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071a0001c0001t0001g0086 | 2 | 372 | 0.0054 | -41 | c.*13 others(52): Show |
CHTOP | ENSG00000160679.14 | transcript | ENST00000368694.8 | protein_coding | 316 | chr1 | TogoVar | |||||||
CIZ1_chr9_128161065_128196572 | 128180306 | GCTCCAGC others(34): Show |
G | intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 380 | 0.0026 | -41 | c.791 others(55): Show |
CIZ1 | ENSG00000148337.22 | transcript | ENST00000372938.10 | protein_coding | 7/16 | chr9 | TogoVar | |||||||
CLCC1_chr1_108924505_108968484 | 108968262 | GAAATAGC others(34): Show |
G | upstream_gene_variant | MODIFIER | HG02004.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 394 | 0.0025 | -41 | c.-51 others(52): Show |
CLCC1 | ENSG00000121940.17 | transcript | ENST00000369969.7 | protein_coding | 4779 | chr1 | TogoVar | |||||||
CLDN8_chr21_30209006_30221097 | 30210479 | TATATATA others(34): Show |
T | downstream_gene_variant | MODIFIER | NA18612.hp1 NA18988.hp2 NA19062.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0002 | a0001c0001t0001g0000a0002c0002t0002g0000 | 4 | 466 | 0.0086 | -41 | c.*47 others(52): Show |
CLDN8 | ENSG00000156284.6 | transcript | ENST00000399899.2 | protein_coding | 3526 | chr21 | TogoVar | |||||||
CLN8_chr8_1758789_1791570 | 1763576 | CCCCCGCC others(34): Show |
C | upstream_gene_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 413 | 0.0024 | -41 | c.-43 others(50): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 212 | chr8 | TogoVar | |||||||
CLSTN2_chr3_139930185_140582397 | 140535975 | TTTTTAAA others(34): Show |
T | intron_variant | MODIFIER | HG01123.hp2 HG01261.hp1 HG01346.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0039a0002c0002t0001others(5): Show | a0001c0001t0001g0063a0001c0001t0039g0079a0002c0002t0001g0065others(7): Show | 10 | 110 | 0.0909 | -41 | c.150 others(60): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CMIP_chr16_81439808_81716762 | 81704340 | CTCACCCT others(34): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG01256.hp2 HG02622.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0040a0001c0001t0003g0266a0001c0001t0006g0126others(2): Show | 5 | 268 | 0.0187 | -41 | c.209 others(58): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69869007 | GGCCTCCT others(34): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02145.hp2 HG03195.hp1 |
a0001a0002 | a0001c0001a0001c0007a0002c0024 | a0001c0001t0001a0001c0007t0001a0002c0024t0003 | a0001c0001t0001g0112a0001c0007t0001g0210a0002c0024t0003g0264 | 3 | 324 | 0.0093 | -41 | c.372 others(58): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 3/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45440469 | CAAGCAGT others(34): Show |
C | intron_variant | MODIFIER | HG03710.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024 | 1 | 292 | 0.0034 | -41 | c.107 others(60): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar |