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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PRPF31_chr19_54110754_54136713 | 54133770 | T | TCTTCCTC others(3808): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 227 | 0.0044 | 3815 | c.*23 others(3826): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2058 | chr19 | TogoVar | |||||||
MED16_chr19_862963_898187 | 871891 | C | CGGGGAGA others(3809): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0003 | 1 | 56 | 0.0179 | 3816 | c.209 others(3831): Show |
MED16 | ENSG00000175221.16 | transcript | ENST00000325464.6 | protein_coding | 12/15 | chr19 | TogoVar | |||||||
SERINC2_chr1_31408213_31439678 | 31432164 | A | ACAGGGTG others(3809): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0330 | 1 | 376 | 0.0027 | 3816 | c.101 others(3833): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(3810): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 NA20752.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0024a0001c0002t0001g0026 | 2 | 40 | 0.0500 | 3817 | c.*14 others(3828): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
CRYAA_chr21_43164008_43177805 | 43173711 | A | ACACACAC others(3810): Show |
downstream_gene_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0004 | 1 | 40 | 0.0250 | 3817 | c.*14 others(3828): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 907 | chr21 | TogoVar | |||||||
FOXK2_chr17_82514732_82609602 | 82586550 | G | GGGGGGAA others(3810): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0007 | a0007c0025 | a0007c0025t0004 | a0007c0025t0004g0304 | 1 | 308 | 0.0033 | 3817 | c.157 others(3834): Show |
FOXK2 | ENSG00000141568.21 | transcript | ENST00000335255.10 | protein_coding | 7/8 | chr17 | TogoVar | |||||||
SDK1_chr7_3296252_4274000 | 3976616 | C | CCACGCAG others(3810): Show |
intron_variant | MODIFIER | HG03688.hp2 | a0003 | a0003c0047 | a0003c0047t0038 | a0003c0047t0038g0082 | 1 | 116 | 0.0086 | 3817 | c.199 others(3836): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | chr7 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(3811): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 370 | 0.0027 | 3818 | c.891 others(3833): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333664 | T | TGAGGATA others(3812): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0066 | 1 | 370 | 0.0027 | 3819 | c.891 others(3834): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
IFNAR1_chr21_33319970_33364864 | 33322909 | T | TAATATAT others(3812): Show |
upstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 323 | 0.0031 | 3819 | c.-21 others(3830): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2060 | chr21 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241590875 | C | CCGGCTGA others(3812): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0316 | 1 | 390 | 0.0026 | 3819 | c.161 others(3838): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716460 | T | TGGGGGGG others(3813): Show |
intron_variant | MODIFIER | HG01993.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0022 | 1 | 170 | 0.0059 | 3820 | c.86- others(3833): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
ITGA9_chr3_37447141_37828507 | 37708652 | C | CACAATGC others(3814): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100a0001c0001t0001g0144 | 2 | 168 | 0.0119 | 3821 | c.206 others(3842): Show |
ITGA9 | ENSG00000144668.12 | transcript | ENST00000264741.10 | protein_coding | 18/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0002 | a0002c0185 | a0002c0185t0001 | a0002c0185t0001g0183 | 1 | 330 | 0.0030 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG00280.hp1 NA20805.hp2 |
a0001 | a0001c0002a0001c0026 | a0001c0002t0002a0001c0026t0002 | a0001c0002t0002g0103a0001c0026t0002g0192 | 2 | 330 | 0.0061 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0064 | a0064c0150 | a0064c0150t0001 | a0064c0150t0001g0158 | 1 | 330 | 0.0030 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0127 | 1 | 330 | 0.0030 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01167.hp1 HG03195.hp2 |
a0006a0018 | a0006c0013a0018c0053 | a0006c0013t0003a0018c0053t0001 | a0006c0013t0003g0200a0018c0053t0001g0136a0018c0053t0001g0137 | 3 | 330 | 0.0091 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG03017.hp1 | a0004 | a0004c0139 | a0004c0139t0001 | a0004c0139t0001g0083 | 1 | 330 | 0.0030 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0108 | a0002c0108t0001 | a0002c0108t0001g0033 | 1 | 330 | 0.0030 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0063 | 1 | 330 | 0.0030 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0186 | a0002c0186t0001 | a0002c0186t0001g0011 | 1 | 330 | 0.0030 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | NA18963.hp2 NA18991.hp2 |
a0001a0005 | a0001c0001a0005c0064 | a0001c0001t0003a0005c0064t0004 | a0001c0001t0003g0224a0005c0064t0004g0275 | 2 | 330 | 0.0061 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00558.hp1 HG00558.hp2 others(51): Show |
a0001a0002a0003others(20): Show | a0001c0002a0001c0011a0001c0012others(43): Show | a0001c0002t0005a0001c0002t0006a0001c0011t0005others(47): Show | a0001c0002t0005g0324a0001c0002t0006g0222a0001c0011t0005g0300others(51): Show | 54 | 330 | 0.1636 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp1 others(141): Show |
a0001a0002a0003others(33): Show | a0001c0001a0001c0002a0001c0005others(76): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(88): Show | a0001c0001t0001g0052a0001c0001t0001g0094a0001c0001t0001g0099others(141): Show | 144 | 330 | 0.4364 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | NA21309.hp1 | a0010 | a0010c0167 | a0010c0167t0001 | a0010c0167t0001g0134 | 1 | 330 | 0.0030 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG01167.hp2 HG01169.hp1 HG01884.hp1 others(2): Show |
a0007a0010a0015 | a0007c0151a0010c0172a0010c0174others(1): Show | a0007c0151t0001a0010c0172t0001a0010c0174t0001others(1): Show | a0007c0151t0001g0079a0010c0172t0001g0124a0010c0174t0001g0117others(2): Show | 5 | 330 | 0.0152 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0097 | a0001c0097t0001 | a0001c0097t0001g0039 | 1 | 330 | 0.0030 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0057 | a0057c0173 | a0057c0173t0001 | a0057c0173t0001g0028 | 1 | 330 | 0.0030 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0066 | a0066c0118 | a0066c0118t0001 | a0066c0118t0001g0059 | 1 | 330 | 0.0030 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0022 | a0022c0142 | a0022c0142t0003 | a0022c0142t0003g0150 | 1 | 330 | 0.0030 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0002 | a0002c0044 | a0002c0044t0001 | a0002c0044t0001g0040 | 1 | 330 | 0.0030 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0005 | a0005c0008 | a0005c0008t0005 | a0005c0008t0005g0281 | 1 | 330 | 0.0030 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 330 | 0.0030 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0002 | a0002c0044 | a0002c0044t0003 | a0002c0044t0003g0206 | 1 | 330 | 0.0030 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02257.hp1 HG02258.hp2 others(10): Show |
a0002a0011a0016others(4): Show | a0002c0187a0011c0042a0011c0121others(9): Show | a0002c0187t0001a0011c0042t0003a0011c0042t0007others(10): Show | a0002c0187t0001g0010a0011c0042t0003g0023a0011c0042t0007g0020others(10): Show | 13 | 330 | 0.0394 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0141 | a0002c0141t0001 | a0002c0141t0001g0160 | 1 | 330 | 0.0030 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00597.hp2 others(60): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0012a0001c0034others(38): Show | a0001c0001t0003a0001c0012t0001a0001c0034t0003others(44): Show | a0001c0001t0003g0239a0001c0012t0001g0097a0001c0012t0001g0129others(60): Show | 63 | 330 | 0.1909 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | NA18968.hp2 NA18989.hp1 |
a0002a0005 | a0002c0047a0005c0019 | a0002c0047t0003a0005c0019t0004 | a0002c0047t0003g0248a0005c0019t0004g0270 | 2 | 330 | 0.0061 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02486.hp1 |
a0004a0033 | a0004c0046a0033c0071 | a0004c0046t0001a0033c0071t0003 | a0004c0046t0001g0180a0033c0071t0003g0172 | 2 | 330 | 0.0061 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
MYOM1_chr18_3061807_3224968 | 3111089 | T | TTACAGGT others(3814): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG01346.hp2 |
a0002a0007 | a0002c0114a0007c0016a0007c0189 | a0002c0114t0003a0007c0016t0001a0007c0189t0002 | a0002c0114t0003g0218a0007c0016t0001g0062a0007c0189t0002g0018 | 3 | 330 | 0.0091 | 3821 | c.341 others(3840): Show |
MYOM1 | ENSG00000101605.14 | transcript | ENST00000356443.9 | protein_coding | 22/37 | chr18 | TogoVar | |||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3814): Show |
intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0005 | a0001c0005t0038 | a0001c0005t0038g0155 | 1 | 268 | 0.0037 | 3821 | c.186 others(3838): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CLCN5_chrX_49917596_50104230 | 50057375 | G | GTCCTGGA others(3815): Show |
intron_variant | MODIFIER | HG03492.hp1 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0147 | 2 | 175 | 0.0114 | 3822 | c.164 others(3841): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725575 | C | CGAGCAGA others(3815): Show |
intron_variant | MODIFIER | NA19005.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0260 | 1 | 324 | 0.0031 | 3822 | c.340 others(3839): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3815): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0154 | 1 | 268 | 0.0037 | 3822 | c.186 others(3839): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTGGAGAC others(3815): Show |
intron_variant | MODIFIER | HG03540.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0027 | a0001c0001t0026g0129a0001c0001t0027g0128 | 2 | 268 | 0.0075 | 3822 | c.186 others(3839): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
THAP4_chr2_241579405_241642158 | 241590875 | C | CCGGCTGA others(3815): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0285 | 1 | 390 | 0.0026 | 3822 | c.161 others(3841): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
THAP4_chr2_241579405_241642158 | 241590982 | T | TCAGAGCT others(3815): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0296 | 1 | 390 | 0.0026 | 3822 | c.161 others(3841): Show |
THAP4 | ENSG00000176946.13 | transcript | ENST00000407315.6 | protein_coding | 5/5 | chr2 | TogoVar | |||||||
MEGF6_chr1_3482951_3616508 | 3502017 | G | GCCTCACA others(3817): Show |
intron_variant | MODIFIER | HG00609.hp1 | a0036 | a0036c0035 | a0036c0035t0004 | a0036c0035t0004g0058 | 1 | 292 | 0.0034 | 3824 | c.218 others(3839): Show |
MEGF6 | ENSG00000162591.17 | transcript | ENST00000356575.9 | protein_coding | 17/36 | chr1 | TogoVar | |||||||
TBCE_chr1_235362427_235457443 | 235409824 | T | TTCGAGAC others(3817): Show |
intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0005 | a0001c0005t0035 | a0001c0005t0035g0260 | 1 | 268 | 0.0037 | 3824 | c.186 others(3841): Show |
TBCE | ENSG00000284770.2 | transcript | ENST00000642610.2 | protein_coding | 3/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |