| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C17orf98_chr17_38830086_38846438 | 38842871 | G | GTCTGTCT others(29): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 NA18966.hp2 NA19005.hp1 others(2): Show |
a0001a0004 | a0001c0001a0001c0004a0004c0005 | a0001c0001t0001a0001c0004t0001a0004c0005t0001 | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0101others(2): Show | 5 | 431 | 0.0116 | 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 | NA19007.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 431 | 0.0023 | 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 | a0001c0001t0001g0076 | 1 | 431 | 0.0023 | 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 | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0008others(48): Show | 87 | 416 | 0.2091 | 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(49): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0007c0008 | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0010others(46): Show | 52 | 416 | 0.1250 | 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 | a0001c0001t0001g0003a0001c0001t0001g0092a0001c0001t0001g0148others(3): Show | 7 | 466 | 0.0150 | 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 | a0001c0001t0001g0048 | 1 | 466 | 0.0022 | 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 | 466 | 0.0022 | 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 | a0001c0001t0002g0347 | 1 | 452 | 0.0022 | 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 | a0001c0001t0001g0075a0001c0001t0001g0085a0001c0001t0001g0089others(8): Show | 11 | 452 | 0.0243 | 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(19): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0025a0001c0001t0001g0031a0001c0001t0001g0036others(19): Show | 22 | 452 | 0.0487 | 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 | a0001c0001t0001g0165 | 1 | 248 | 0.0040 | 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 | 232 | 0.0043 | 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 | 232 | 0.0043 | 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 | a0001c0001t0108 | a0001c0001t0108g0080 | 1 | 418 | 0.0024 | 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 | a0002c0002t0001g0226a0002c0002t0001g0227a0003c0003t0001g0234 | 3 | 382 | 0.0079 | 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 | a0001c0001t0001g0326 | 1 | 360 | 0.0028 | 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 | a0001c0001t0001g0190a0001c0001t0002g0255a0001c0001t0002g0256others(2): Show | 5 | 360 | 0.0139 | 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 | a0001c0001t0002g0022 | 1 | 410 | 0.0024 | 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 | a0001c0001t0001g0043 | 1 | 410 | 0.0024 | 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 | a0002c0002t0001g0022a0002c0002t0001g0155a0002c0002t0001g0168others(4): Show | 7 | 378 | 0.0185 | 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 | a0003c0003t0002g0013a0003c0003t0002g0035 | 7 | 398 | 0.0176 | 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 | a0002c0002t0002g0019a0002c0007t0002g0012a0002c0007t0002g0026 | 8 | 398 | 0.0201 | 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 | 398 | 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 | a0001c0001t0001g0355a0001c0001t0026g0323a0001c0002t0004g0322others(2): Show | 5 | 396 | 0.0126 | 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 | 396 | 0.0025 | 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 | 396 | 0.0025 | 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 | 322 | 0.0031 | 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 | 322 | 0.0031 | 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 | a0001c0001t0013g0032a0001c0001t0018g0015a0001c0001t0098g0078others(3): Show | 10 | 322 | 0.0311 | 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 | a0001c0001t0003a0001c0001t0023a0001c0002t0002others(1): Show | a0001c0001t0003g0009a0001c0001t0003g0181a0001c0001t0003g0183others(3): Show | 10 | 412 | 0.0243 | 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 | a0001c0001t0001g0007a0001c0001t0001g0141a0001c0001t0001g0325others(5): Show | 9 | 370 | 0.0243 | 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 | a0001c0001t0011a0001c0001t0017a0001c0001t0042others(6): Show | a0001c0001t0011g0131a0001c0001t0011g0135a0001c0001t0011g0138others(17): Show | 20 | 388 | 0.0516 | 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 | a0001c0001t0029 | a0001c0001t0029g0371 | 1 | 388 | 0.0026 | 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 | a0001c0001t0114 | a0001c0001t0114g0014 | 1 | 388 | 0.0026 | 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 | a0001c0001t0006 | a0001c0001t0006g0054 | 1 | 388 | 0.0026 | 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 | a0001c0002t0001g0128a0001c0002t0001g0132 | 2 | 388 | 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 | 388 | 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 | a0004c0005t0001g0039 | 1 | 386 | 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 | a0001c0001t0001g0248 | 1 | 358 | 0.0028 | 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 | a0001c0001t0001g0253 | 1 | 358 | 0.0028 | 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 | a0001c0001t0012g0292a0001c0001t0022g0019 | 2 | 326 | 0.0061 | 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 | a0001c0001t0001g0099a0001c0001t0003g0205a0001c0001t0003g0238others(4): Show | 7 | 326 | 0.0215 | 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 |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(16): Show | a0001c0001t0002g0208a0001c0001t0002g0209a0001c0001t0002g0211others(108): Show | 111 | 326 | 0.3405 | 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 | a0001c0001t0001g0082 | 1 | 326 | 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 | a0001c0001t0001g0083 | 1 | 326 | 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 | a0001c0001t0003g0205a0001c0001t0003g0239 | 2 | 326 | 0.0061 | 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 | 326 | 0.0031 | 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 | 326 | 0.0031 | 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 | 326 | 0.0031 | 36 | c.-2+ others(51): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar |