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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(875): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0021 | a0001c0021t0007 | a0001c0021t0007g0355 | 1 | 374 | 0.0027 | 882 | c.735 others(899): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(875): Show |
intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01081.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0002t0013a0001c0003t0002others(3): Show | a0001c0001t0001g0071a0001c0001t0001g0076a0001c0002t0013g0074others(5): Show | 8 | 374 | 0.0214 | 882 | c.735 others(899): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(875): Show |
intron_variant | MODIFIER | HG01261.hp1 HG02602.hp1 HG04199.hp2 others(1): Show |
a0001a0012 | a0001c0002a0001c0004a0001c0006others(1): Show | a0001c0002t0001a0001c0004t0002a0001c0006t0004others(1): Show | a0001c0002t0001g0078a0001c0004t0002g0064a0001c0006t0004g0120others(1): Show | 4 | 374 | 0.0107 | 882 | c.735 others(899): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(875): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0006 | a0006c0010 | a0006c0010t0003 | a0006c0010t0003g0014 | 1 | 374 | 0.0027 | 882 | c.735 others(899): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(875): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0045 | a0001c0045t0012 | a0001c0045t0012g0015 | 1 | 374 | 0.0027 | 882 | c.735 others(899): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(875): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0036 | a0001c0036t0001 | a0001c0036t0001g0357 | 1 | 374 | 0.0027 | 882 | c.735 others(899): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(875): Show |
intron_variant | MODIFIER | HG02451.hp1 HG02809.hp1 HG02922.hp2 others(1): Show |
a0001a0006 | a0001c0001a0001c0085a0006c0010 | a0001c0001t0001a0001c0085t0016a0006c0010t0003 | a0001c0001t0001g0106a0001c0085t0016g0016a0006c0010t0003g0017others(1): Show | 4 | 374 | 0.0107 | 882 | c.735 others(899): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
KIF26A_chr14_104133587_104185894 | 104153599 | C | CGAACCCC others(875): Show |
intron_variant | MODIFIER | HG02109.hp1 HG03041.hp1 |
a0001a0037 | a0001c0004a0037c0069 | a0001c0004t0019a0037c0069t0001 | a0001c0004t0019g0020a0037c0069t0001g0019 | 2 | 374 | 0.0054 | 882 | c.735 others(899): Show |
KIF26A | ENSG00000066735.16 | transcript | ENST00000423312.7 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
LMF1_chr16_848634_975984 | 961640 | C | CACAGACT others(875): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 |
a0001a0007 | a0001c0001a0007c0028 | a0001c0001t0001a0007c0028t0004 | a0001c0001t0001g0024a0007c0028t0004g0017 | 2 | 294 | 0.0068 | 882 | c.194 others(899): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 1/10 | chr16 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256766 | T | TATAGTCA others(875): Show |
upstream_gene_variant | MODIFIER | HG00558.hp1 HG02074.hp1 |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 | 2 | 422 | 0.0047 | 882 | c.-29 others(893): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2920 | chr1 | TogoVar | ||||||
MAP3K15_chrX_19355059_19520508 | 19478050 | G | GGGGGGAG others(875): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0020 | 1 | 163 | 0.0061 | 882 | c.525 others(899): Show |
MAP3K15 | ENSG00000180815.15 | transcript | ENST00000338883.9 | protein_coding | 3/28 | chrX | TogoVar | ||||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(875): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01192.hp2 HG01255.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0015a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0015t0003others(3): Show | a0001c0001t0001g0211a0001c0001t0002g0130a0001c0015t0003g0155others(3): Show | 6 | 276 | 0.0217 | 882 | c.100 others(901): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MCTP2_chr15_94226561_94488952 | 94348434 | C | CCTCCCCC others(875): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0226 | 1 | 276 | 0.0036 | 882 | c.100 others(901): Show |
MCTP2 | ENSG00000140563.16 | transcript | ENST00000357742.10 | protein_coding | 8/22 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
MEGF6_chr1_3482951_3616508 | 3583450 | G | GCAGCCAC others(875): Show |
intron_variant | MODIFIER | NA19070.hp1 | a0012 | a0012c0010 | a0012c0010t0001 | a0012c0010t0001g0225 | 1 | 292 | 0.0034 | 882 | c.377 others(899): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 3/36 | chr1 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(875): Show |
upstream_gene_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0219 | 1 | 318 | 0.0031 | 882 | c.-49 others(893): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(875): Show |
upstream_gene_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0022 | 1 | 318 | 0.0031 | 882 | c.-49 others(893): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(875): Show |
upstream_gene_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0196 | 1 | 318 | 0.0031 | 882 | c.-49 others(893): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926747 | A | AAGGGGGG others(875): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0002 | a0002c0002 | a0002c0002t0021 | a0002c0002t0021g0032 | 1 | 272 | 0.0037 | 882 | c.250 others(897): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528393 | G | GGGGGGGT others(875): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0007 | a0001c0007t0010 | a0001c0007t0010g0286 | 1 | 324 | 0.0031 | 882 | c.141 others(899): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NOTCH1_chr9_136489433_136551048 | 136528394 | G | GGGGGTGG others(875): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0185 | 1 | 324 | 0.0031 | 882 | c.141 others(899): Show |
NOTCH1 | ENSG00000148400.13 | transcript | ENST00000651671.1 | protein_coding | 2/33 | chr9 | TogoVar | ||||||
NPSR1_chr7_34653218_34854978 | 34800834 | A | AAAAAAAG others(875): Show |
intron_variant | MODIFIER | HG06807.hp2 NA19240.hp2 |
a0006a0016 | a0006c0006a0016c0022 | a0006c0006t0004a0016c0022t0003 | a0006c0006t0004g0005a0016c0022t0003g0122 | 2 | 260 | 0.0077 | 882 | c.385 others(901): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NPSR1_chr7_34653218_34854978 | 34800834 | A | AAAAAAAG others(875): Show |
intron_variant | MODIFIER | HG01255.hp1 HG02055.hp2 HG02615.hp1 |
a0004a0005 | a0004c0003a0005c0004 | a0004c0003t0002a0005c0004t0003 | a0004c0003t0002g0124a0004c0003t0002g0125a0005c0004t0003g0163 | 3 | 260 | 0.0115 | 882 | c.385 others(901): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NPSR1_chr7_34653218_34854978 | 34800834 | A | AAAAAAAG others(875): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00738.hp1 HG01070.hp2 others(55): Show |
a0001a0003a0006others(6): Show | a0001c0002a0001c0009a0003c0005others(8): Show | a0001c0002t0006a0001c0009t0001a0001c0009t0007others(16): Show | a0001c0002t0006g0115a0001c0009t0001g0002a0001c0009t0001g0056others(53): Show | 58 | 260 | 0.2231 | 882 | c.385 others(901): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NPSR1_chr7_34653218_34854978 | 34800834 | A | AAAAAAAG others(875): Show |
intron_variant | MODIFIER | HG02895.hp1 HG02897.hp2 |
a0004 | a0004c0003 | a0004c0003t0005 | a0004c0003t0005g0127a0004c0003t0005g0128 | 2 | 260 | 0.0077 | 882 | c.385 others(901): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NPSR1_chr7_34653218_34854978 | 34800834 | A | AAAAAAAG others(875): Show |
intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG03130.hp2 others(2): Show |
a0002a0004a0005 | a0002c0001a0002c0019a0004c0003others(1): Show | a0002c0001t0001a0002c0019t0003a0004c0003t0004others(1): Show | a0002c0001t0001g0166a0002c0019t0003g0121a0004c0003t0004g0172others(2): Show | 5 | 260 | 0.0192 | 882 | c.385 others(901): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NPSR1_chr7_34653218_34854978 | 34800834 | A | AAAAAAAG others(875): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00639.hp1 HG00673.hp1 others(24): Show |
a0001a0003 | a0001c0002a0001c0008a0003c0005 | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(5): Show | a0001c0002t0001g0039a0001c0002t0001g0093a0001c0002t0001g0231others(24): Show | 27 | 260 | 0.1039 | 882 | c.385 others(901): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NPSR1_chr7_34653218_34854978 | 34800834 | A | AAAAAAAG others(875): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0239 | 1 | 260 | 0.0039 | 882 | c.385 others(901): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NPSR1_chr7_34653218_34854978 | 34800834 | A | AAAAAAAG others(875): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG00741.hp1 others(45): Show |
a0001a0003a0006others(4): Show | a0001c0002a0001c0008a0003c0005others(6): Show | a0001c0002t0002a0001c0002t0003a0001c0002t0005others(14): Show | a0001c0002t0002g0136a0001c0002t0002g0137a0001c0002t0002g0207others(45): Show | 48 | 260 | 0.1846 | 882 | c.385 others(901): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NPSR1_chr7_34653218_34854978 | 34800834 | A | AAAAAAAG others(875): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03225.hp2 |
a0013 | a0013c0015 | a0013c0015t0002 | a0013c0015t0002g0168a0013c0015t0002g0169 | 2 | 260 | 0.0077 | 882 | c.385 others(901): Show |
NPSR1 | ENSG00000187258.14 | transcript | ENST00000360581.6 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(875): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 NA20905.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0003 | 2 | 456 | 0.0044 | 882 | c.*31 others(893): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | ||||||
PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCAT others(875): Show |
intron_variant | MODIFIER | NA19084.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0107 | 1 | 300 | 0.0033 | 882 | c.117 others(899): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | ||||||
PRKCZ_chr1_2045411_2190395 | 2106663 | T | TGTCACCA others(875): Show |
intron_variant | MODIFIER | NA19004.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 286 | 0.0035 | 882 | c.335 others(901): Show |
PRKCZ | ENSG00000067606.17 | transcript | ENST00000378567.8 | protein_coding | 4/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
PROZ_chr13_113153648_113177386 | 113161802 | T | TCACATCC others(875): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 378 | 0.0027 | 882 | c.259 others(897): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PROZ_chr13_113153648_113177386 | 113161924 | C | CTCCCCCC others(875): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0203 | 1 | 378 | 0.0027 | 882 | c.260 others(899): Show |
PROZ | ENSG00000126231.15 | transcript | ENST00000375547.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
PRPF31_chr19_54110754_54136713 | 54133762 | C | CCAGGCGG others(875): Show |
downstream_gene_variant | MODIFIER | HG03490.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 227 | 0.0044 | 882 | c.*23 others(893): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2050 | chr19 | TogoVar | ||||||
RPTOR_chr17_80539838_80971368 | 80744101 | T | TAGCAGAG others(875): Show |
intron_variant | MODIFIER | HG01516.hp2 HG01517.hp2 |
a0001 | a0001c0036 | a0001c0036t0004 | a0001c0036t0004g0167a0001c0036t0004g0168 | 2 | 196 | 0.0102 | 882 | c.655 others(899): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
RPTOR_chr17_80539838_80971368 | 80744883 | C | CCCTGGCT others(875): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0170 | 1 | 196 | 0.0051 | 882 | c.655 others(899): Show |
RPTOR | ENSG00000141564.16 | transcript | ENST00000306801.8 | protein_coding | 5/33 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431776 | A | AATAGGGT others(875): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0066 | 1 | 376 | 0.0027 | 882 | c.101 others(901): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431953 | G | GTGGATAG others(875): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0327 | 1 | 376 | 0.0027 | 882 | c.101 others(901): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31431994 | T | TAGGGTGG others(875): Show |
intron_variant | MODIFIER | NA19063.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0076 | 1 | 376 | 0.0027 | 882 | c.101 others(899): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432012 | T | TAGGGTGG others(875): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0287 | 1 | 376 | 0.0027 | 882 | c.101 others(899): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SERINC2_chr1_31408213_31439678 | 31432092 | A | ATAGGGTG others(875): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0242 | 1 | 376 | 0.0027 | 882 | c.101 others(899): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432174 | T | TAGGGTGG others(875): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0216 | 1 | 376 | 0.0027 | 882 | c.101 others(899): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
SPEF2_chr5_35612863_35819611 | 35708695 | C | CCATCACC others(875): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0066 | 1 | 268 | 0.0037 | 882 | c.266 others(899): Show |
SPEF2 | ENSG00000152582.14 | transcript | ENST00000356031.8 | protein_coding | 18/36 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
STK24_chr13_98440185_98582107 | 98473274 | G | GGAGAGGA others(875): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01975.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0027a0001c0001t0030 | a0001c0001t0027g0242a0001c0001t0027g0248a0001c0001t0030g0243 | 3 | 322 | 0.0093 | 882 | c.597 others(899): Show |
STK24 | ENSG00000102572.15 | transcript | ENST00000539966.6 | protein_coding | 5/10 | chr13 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1290954 | T | TGACAGGG others(875): Show |
intron_variant | MODIFIER | NA18963.hp2 NA18969.hp2 NA19007.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187a0001c0001t0001g0188a0001c0001t0001g0189 | 3 | 392 | 0.0077 | 882 | c.157 others(901): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1290954 | T | TGACAGGG others(875): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01071.hp1 others(15): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0170a0001c0001t0001g0171a0001c0001t0001g0172others(15): Show | 18 | 392 | 0.0459 | 882 | c.157 others(901): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1290954 | T | TGACAGGG others(875): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 392 | 0.0026 | 882 | c.157 others(901): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
TERT_chr5_1248167_1300068 | 1290954 | T | TGACAGGG others(875): Show |
intron_variant | MODIFIER | HG00544.hp2 HG01515.hp1 HG02523.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161a0001c0001t0001g0162a0001c0001t0001g0163others(4): Show | 7 | 392 | 0.0179 | 882 | c.157 others(901): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 2/15 | chr5 | TogoVar | ||||||
TNNT3_chr11_1914703_1943702 | 1939626 | C | CACACACA others(875): Show |
downstream_gene_variant | MODIFIER | HG03688.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0017 | 1 | 125 | 0.0080 | 882 | c.*11 others(893): Show |
TNNT3 | ENSG00000130595.20 | transcript | ENST00000278317.11 | protein_coding | 925 | chr11 | TogoVar |