view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C17orf98_chr17_38830086_38846438 | 38842871 | G | GTCTGTCT others(29): Show |
upstream_gene_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 266 | 0.0038 | 36 | c.-14 others(47): Show |
C17orf98 | ENSG00000275489.2 | transcript | ENST00000614158.2 | protein_coding | 1434 | chr17 | TogoVar | |||||||
C17orf98_chr17_38830086_38846438 | 38842871 | G | GTCTGTCT others(29): Show |
upstream_gene_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 266 | 0.0038 | 36 | c.-14 others(47): Show |
C17orf98 | ENSG00000275489.2 | transcript | ENST00000614158.2 | protein_coding | 1434 | chr17 | TogoVar | |||||||
C19orf81_chr19_50644445_50664306 | 50648627 | C | CTCAGACC others(29): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00408.hp2 HG00558.hp2 others(84): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0005others(1): Show | a0001c0001t0001a0002c0002t0001a0004c0005t0001others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0008 others(48): Show |
87 | 362 | 0.2403 | 36 | c.-81 others(45): Show |
C19orf81 | ENSG00000235034.7 | transcript | ENST00000425202.6 | protein_coding | 817 | chr19 | TogoVar | |||||||
C19orf81_chr19_50644445_50664306 | 50648627 | C | CTCAGACC others(29): Show |
upstream_gene_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00733.hp2 others(48): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0008 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(45): Show |
51 | 326 | 0.1564 | 36 | c.-81 others(45): Show |
C19orf81 | ENSG00000235034.7 | transcript | ENST00000425202.6 | protein_coding | 817 | chr19 | TogoVar | |||||||
C1QTNF9_chr13_24304580_24327531 | 24309283 | T | TTATATAT others(29): Show |
upstream_gene_variant | MODIFIER | HG01978.hp2 HG02818.hp1 HG02886.hp2 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0091 a0001c0001t0001g0145 others(3): Show |
7 | 125 | 0.0560 | 36 | c.-35 others(45): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 296 | chr13 | TogoVar | |||||||
C1QTNF9_chr13_24304580_24327531 | 24309283 | T | TTATTTAT others(29): Show |
upstream_gene_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 119 | 0.0084 | 36 | c.-35 others(45): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 296 | chr13 | TogoVar | |||||||
C1QTNF9_chr13_24304580_24327531 | 24309283 | T | TTTTATAT others(29): Show |
upstream_gene_variant | MODIFIER | HG01975.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0004 | 1 | 119 | 0.0084 | 36 | c.-35 others(45): Show |
C1QTNF9 | ENSG00000240654.6 | transcript | ENST00000332018.5 | protein_coding | 296 | chr13 | TogoVar | |||||||
C1orf100_chr1_244347635_244394663 | 244373331 | A | AATTTATA others(29): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0345 | 1 | 440 | 0.0023 | 36 | c.57- others(51): Show |
C1orf100 | ENSG00000173728.11 | transcript | ENST00000308105.5 | protein_coding | 2/4 | chr1 | TogoVar | |||||||
C1orf100_chr1_244347635_244394663 | 244373332 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00673.hp2 HG01081.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0064 a0001c0001t0001g0087 a0001c0001t0001g0092 others(8): Show |
11 | 143 | 0.0769 | 36 | c.57- others(51): 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(29): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG01361.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0028 a0001c0001t0001g0037 a0001c0001t0001g0041 others(18): Show |
21 | 153 | 0.1373 | 36 | c.57- others(51): Show |
C1orf100 | ENSG00000173728.11 | transcript | ENST00000308105.5 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf185_chr1_51097228_51153086 | 51143128 | G | GTTTTTTT others(29): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160 | 1 | 246 | 0.0041 | 36 | c.259 others(53): Show |
C1orf185 | ENSG00000204006.11 | transcript | ENST00000371759.7 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf21_chr1_184382029_184634019 | 184386787 | G | GCACACAC others(29): Show |
upstream_gene_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0013 | 1 | 214 | 0.0047 | 36 | c.-70 others(45): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 241 | chr1 | TogoVar | |||||||
C1orf21_chr1_184382029_184634019 | 184559505 | C | CCCTTCCT others(29): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163 | 1 | 129 | 0.0078 | 36 | c.190 others(55): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C1orf50_chr1_42762249_42784491 | 42775762 | T | TTATATAT others(29): Show |
3_prime_UTR_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0080 | a0001c0001t0080g0080 | 1 | 143 | 0.0070 | 36 | c.*39 others(45): Show |
C1orf50 | ENSG00000164008.17 | transcript | ENST00000372525.7 | protein_coding | 5/5 | 393 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf87_chr1_59985394_60078770 | 60064754 | A | ATAAATAT others(29): Show |
intron_variant | MODIFIER | HG02155.hp1 HG03225.hp2 HG03453.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0224 a0002c0002t0001g0225 a0003c0003t0001g0229 |
3 | 377 | 0.0080 | 36 | c.107 others(53): Show |
C1orf87 | ENSG00000162598.13 | transcript | ENST00000371201.3 | protein_coding | 2/11 | chr1 | TogoVar | |||||||
C20orf203_chr20_32626625_32678941 | 32666797 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0314 | 1 | 123 | 0.0081 | 36 | c.-26 others(55): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
C20orf203_chr20_32626625_32678941 | 32666797 | T | TTTTATAT others(29): Show |
intron_variant | MODIFIER | HG01975.hp1 HG02027.hp1 HG02602.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0183 a0001c0001t0002g0247 a0001c0001t0002g0248 others(2): Show |
5 | 127 | 0.0394 | 36 | c.-26 others(55): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 1/5 | chr20 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 278953 | A | AGGGAGGG others(29): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0024 | 1 | 394 | 0.0025 | 36 | c.465 others(51): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C20orf96_chr20_265863_295750 | 278962 | G | GGGAGGGC others(29): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 324 | 0.0031 | 36 | c.465 others(51): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | |||||||
C21orf58_chr21_46296130_46328870 | 46298434 | C | CTTTTTTT others(29): Show |
downstream_gene_variant | MODIFIER | HG01169.hp1 HG01243.hp2 NA18979.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0024 a0002c0002t0001g0146 a0002c0002t0001g0157 others(4): Show |
7 | 177 | 0.0395 | 36 | c.*35 others(47): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 2695 | chr21 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32145803 | A | ATATTATA others(29): Show |
downstream_gene_variant | MODIFIER | HG02109.hp1 HG02486.hp1 HG02572.hp1 others(4): Show |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0012 a0003c0003t0002g0033 |
7 | 396 | 0.0177 | 36 | c.*37 others(47): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3202 | chr22 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32146007 | T | TAATATAT others(29): Show |
downstream_gene_variant | MODIFIER | HG01496.hp2 HG01891.hp2 HG02809.hp1 others(5): Show |
a0002 | a0002c0002a0002c0007 | a0002c0002t0002a0002c0007t0002 | a0002c0002t0002g0018 a0002c0007t0002g0011 a0002c0007t0002g0025 |
8 | 395 | 0.0203 | 36 | c.*35 others(47): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 2998 | chr22 | TogoVar | |||||||
C22orf42_chr22_32144006_32164303 | 32146235 | A | ATATATTA others(29): Show |
downstream_gene_variant | MODIFIER | NA18988.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 396 | 0.0025 | 36 | c.*33 others(47): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 2770 | chr22 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947112 | T | TTCTCTCC others(29): Show |
intron_variant | MODIFIER | HG01257.hp1 HG03017.hp1 HG03669.hp1 others(2): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0026a0001c0002t0004others(2): Show | a0001c0001t0001g0353 a0001c0001t0026g0322 a0001c0002t0004g0321 others(2): Show |
5 | 243 | 0.0206 | 36 | c.280 others(53): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947112 | T | TTCTCTCT others(29): Show |
intron_variant | MODIFIER | NA19082.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0304 | 1 | 239 | 0.0042 | 36 | c.280 others(53): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD2_chr21_41880112_41959018 | 41947137 | T | TCTCTCTC others(29): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0359 | 1 | 116 | 0.0086 | 36 | c.280 others(53): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 1/13 | chr21 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404061 | T | TGGGGGGG others(29): Show |
downstream_gene_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0001 | a0001c0001t0105 | a0001c0001t0105g0085 | 1 | 197 | 0.0051 | 36 | c.*30 others(47): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1383 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404125 | T | TGGGGGGG others(29): Show |
downstream_gene_variant | MODIFIER | NA18981.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0011 | 1 | 184 | 0.0054 | 36 | c.*29 others(47): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 1319 | chr19 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 405026 | A | AGGGGGGG others(29): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00639.hp2 HG00733.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0013a0001c0001t0018a0001c0001t0098others(3): Show | a0001c0001t0013g0032 a0001c0001t0018g0015 a0001c0001t0098g0078 others(3): Show |
10 | 103 | 0.0971 | 36 | c.*20 others(47): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 418 | chr19 | TogoVar | |||||||
C2orf69_chr2_199906293_199933273 | 199922031 | T | TTATATAT others(29): Show |
intron_variant | MODIFIER | HG00597.hp1 HG01358.hp1 HG01361.hp2 others(7): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0004 | a0001c0001t0003a0001c0001t0024a0001c0002t0002others(1): Show | a0001c0001t0003g0009 a0001c0001t0003g0178 a0001c0001t0003g0181 others(3): Show |
10 | 72 | 0.1389 | 36 | c.334 others(53): Show |
C2orf69 | ENSG00000178074.6 | transcript | ENST00000319974.6 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6689307 | C | CTTCTCCT others(29): Show |
intron_variant | MODIFIER | HG03927.hp1 NA18951.hp2 NA18952.hp1 others(6): Show |
a0001 | a0001c0001a0001c0007a0001c0014others(1): Show | a0001c0001t0001a0001c0007t0002a0001c0014t0001others(1): Show | a0001c0001t0001g0012 a0001c0001t0001g0140 a0001c0001t0001g0320 others(5): Show |
9 | 368 | 0.0245 | 36 | c.348 others(55): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 27/40 | chr19 | TogoVar | |||||||
C3orf70_chr3_185071838_185158060 | 185085713 | G | GAGGTGGT others(29): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00558.hp1 HG00558.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0018a0001c0001t0029others(2): Show | a0001c0001t0006g0007 a0001c0001t0006g0140 a0001c0001t0006g0141 others(16): Show |
20 | 371 | 0.0539 | 36 | c.197 others(53): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
C3orf70_chr3_185071838_185158060 | 185134116 | C | CTCATATA others(29): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0357 | 1 | 376 | 0.0027 | 36 | c.196 others(55): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
C3orf70_chr3_185071838_185158060 | 185134125 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0025 | 1 | 371 | 0.0027 | 36 | c.196 others(55): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
C3orf70_chr3_185071838_185158060 | 185157366 | A | AGAGAGAG others(29): Show |
upstream_gene_variant | MODIFIER | NA19011.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0065 | 1 | 192 | 0.0052 | 36 | c.-45 others(47): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 4307 | chr3 | TogoVar | |||||||
C4BPB_chr1_207083860_207104993 | 207085615 | A | AATATATA others(29): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG03195.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0127 a0001c0002t0001g0131 |
2 | 381 | 0.0052 | 36 | c.-33 others(47): Show |
C4BPB | ENSG00000123843.13 | transcript | ENST00000367078.8 | protein_coding | 3244 | chr1 | TogoVar | |||||||
C4BPB_chr1_207083860_207104993 | 207085621 | T | TATATATA others(29): Show |
upstream_gene_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0016 | 1 | 381 | 0.0026 | 36 | c.-33 others(47): Show |
C4BPB | ENSG00000123843.13 | transcript | ENST00000367078.8 | protein_coding | 3238 | chr1 | TogoVar | |||||||
C4orf17_chr4_99506021_99547303 | 99545911 | G | GAAGTAAG others(29): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0047 | 1 | 384 | 0.0026 | 36 | c.*38 others(47): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 3609 | chr4 | TogoVar | |||||||
C4orf47_chr4_185421254_185454826 | 185443342 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | NA18973.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 55 | 0.0182 | 36 | c.715 others(53): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf47_chr4_185421254_185454826 | 185443342 | A | ATATATAT others(29): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0214 | 1 | 55 | 0.0182 | 36 | c.715 others(53): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1003870 | T | TGGGGAGT others(29): Show |
intron_variant | MODIFIER | HG02818.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0022 | a0001c0001t0012g0292 a0001c0001t0022g0019 |
2 | 324 | 0.0062 | 36 | c.324 others(53): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016161 | A | ACATAGCA others(29): Show |
intron_variant | MODIFIER | HG01081.hp2 HG02451.hp2 HG02486.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0007 | a0001c0001t0001g0100 a0001c0001t0003g0205 a0001c0001t0003g0206 others(4): Show |
7 | 212 | 0.0330 | 36 | c.130 others(53): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016161 | A | ACATAGCA others(29): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00558.hp2 others(108): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0218 others(108): Show |
111 | 316 | 0.3513 | 36 | c.130 others(53): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1121787 | G | GCCACTGC others(29): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 324 | 0.0031 | 36 | c.129 others(53): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1121811 | A | ATGCTGCA others(29): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0085 | 1 | 322 | 0.0031 | 36 | c.129 others(53): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1127949 | C | CGTCTGGA others(29): Show |
intron_variant | MODIFIER | HG02451.hp2 HG02486.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0205 a0001c0001t0003g0210 |
2 | 234 | 0.0085 | 36 | c.-1- others(49): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1135912 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | NA18963.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0176 | 1 | 294 | 0.0034 | 36 | c.-2+ others(51): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1136115 | C | CATATATA others(29): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0287 | 1 | 260 | 0.0038 | 36 | c.-2+ others(51): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1136240 | T | TATATATA others(29): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0297 | 1 | 298 | 0.0034 | 36 | c.-2+ others(51): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf57_chr7_48030543_48066297 | 48051821 | T | TCTCTTCT others(29): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02015.hp1 HG02129.hp1 |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0039 a0002c0001t0002g0251 a0002c0001t0002g0272 |
3 | 305 | 0.0098 | 36 | c.606 others(51): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | chr7 | TogoVar |