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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C8B_chr1_56924207_56971015 | 56925370 | C | CATA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(349): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0004a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(266): Show | 352 | 402 | 0.8756 | 3 | c.*40 others(14): Show |
C8B | ENSG00000021852.14 | transcript | ENST00000371237.9 | protein_coding | 3836 | chr1 | TogoVar | ||||||
C8B_chr1_56924207_56971015 | 56940574 | A | AAAG | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(331): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0005a0002c0002others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(250): Show | 334 | 402 | 0.8309 | 3 | c.139 others(20): Show |
C8B | ENSG00000021852.14 | transcript | ENST00000371237.9 | protein_coding | 9/11 | chr1 | TogoVar | ||||||
C8orf33_chr8_145047467_145061030 | 145048996 | C | CTTT | upstream_gene_variant | MODIFIER | NA18969.hp1 NA18975.hp1 NA18978.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 6 | 406 | 0.0148 | 3 | c.-34 others(14): Show |
C8orf33 | ENSG00000182307.14 | transcript | ENST00000331434.7 | protein_coding | 3470 | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68331772 | T | TTCC | intron_variant | MODIFIER | HG01261.hp1 HG03130.hp1 NA20905.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0011a0001c0001t0001g0012a0001c0002t0001g0010 | 3 | 128 | 0.0234 | 3 | c.327 others(18): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68331783 | C | CTTT | intron_variant | MODIFIER | HG01167.hp1 HG01943.hp2 HG04204.hp1 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(1): Show | a0001c0001t0001g0067a0001c0001t0001g0068a0001c0001t0001g0110others(4): Show | 7 | 128 | 0.0547 | 3 | c.327 others(18): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68343593 | A | ATTT | intron_variant | MODIFIER | HG02622.hp1 NA19007.hp1 NA19009.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0040a0001c0001t0002g0037a0001c0001t0002g0038others(2): Show | 5 | 128 | 0.0391 | 3 | c.327 others(22): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68360752 | C | CTTT | intron_variant | MODIFIER | HG01109.hp1 HG01167.hp1 HG02717.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005 | a0001c0001t0001g0108a0001c0001t0001g0110a0001c0001t0001g0115others(3): Show | 6 | 128 | 0.0469 | 3 | c.327 others(22): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68367912 | G | GAAA | intron_variant | MODIFIER | HG01106.hp2 HG01358.hp1 HG01978.hp1 others(2): Show |
a0001a0005a0007others(1): Show | a0001c0001a0005c0010a0007c0011others(1): Show | a0001c0001t0001a0001c0001t0002a0005c0010t0003others(2): Show | a0001c0001t0001g0076a0001c0001t0002g0075a0005c0010t0003g0106others(2): Show | 5 | 128 | 0.0391 | 3 | c.327 others(22): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68381738 | C | CAAA | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01081.hp1 others(31): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0005a0001c0001t0001g0011a0001c0001t0001g0012others(31): Show | 34 | 128 | 0.2656 | 3 | c.327 others(22): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68513608 | A | AAGG | intron_variant | MODIFIER | HG01071.hp1 HG01081.hp2 HG01106.hp2 others(55): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(23): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(55): Show | 58 | 128 | 0.4531 | 3 | c.766 others(20): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68518886 | C | CAAA | intron_variant | MODIFIER | HG01071.hp1 HG01243.hp2 HG01891.hp2 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0014others(4): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(5): Show | a0001c0001t0001g0094a0001c0002t0001g0010a0001c0002t0001g0084others(10): Show | 13 | 128 | 0.1016 | 3 | c.766 others(20): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68525782 | T | TTCA | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG01071.hp1 others(53): Show |
a0001a0002a0005others(4): Show | a0001c0001a0001c0002a0001c0014others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(17): Show | a0001c0001t0001g0021a0001c0001t0001g0030a0001c0001t0001g0047others(53): Show | 56 | 128 | 0.4375 | 3 | c.938 others(20): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68525956 | C | CTTT | intron_variant | MODIFIER | HG01106.hp1 HG01106.hp2 HG01346.hp1 others(9): Show |
a0001a0002a0008 | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0002a0001c0002t0001a0002c0004t0001others(3): Show | a0001c0001t0002g0025a0001c0001t0002g0088a0001c0002t0001g0069others(9): Show | 12 | 128 | 0.0938 | 3 | c.938 others(20): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 6/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68536358 | C | CAAA | intron_variant | MODIFIER | HG01081.hp2 HG01934.hp1 HG02486.hp2 others(3): Show |
a0001a0002 | a0001c0001a0001c0014a0002c0013 | a0001c0001t0001a0001c0001t0002a0001c0014t0004others(1): Show | a0001c0001t0001g0002a0001c0001t0001g0052a0001c0001t0001g0067others(3): Show | 6 | 128 | 0.0469 | 3 | c.110 others(22): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68560292 | A | ATTG | intron_variant | MODIFIER | HG00558.hp2 HG01071.hp1 HG01106.hp1 others(32): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0003a0001c0001t0008a0001c0002t0001others(12): Show | a0001c0001t0003g0077a0001c0001t0008g0089a0001c0002t0001g0007others(32): Show | 35 | 128 | 0.2734 | 3 | c.110 others(24): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68603141 | T | TTTG | intron_variant | MODIFIER | HG01071.hp1 HG01109.hp1 HG01243.hp1 others(46): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(46): Show | 49 | 128 | 0.3828 | 3 | c.110 others(24): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68610861 | G | GTTT | intron_variant | MODIFIER | HG01243.hp2 HG01261.hp2 HG01943.hp2 others(10): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(5): Show | a0001c0001t0001g0050a0001c0001t0001g0076a0001c0001t0003g0023others(10): Show | 13 | 128 | 0.1016 | 3 | c.110 others(24): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68610863 | T | TTTG | intron_variant | MODIFIER | HG01243.hp1 HG03209.hp1 HG03516.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0055a0001c0002t0001g0007a0001c0002t0001g0009others(1): Show | 4 | 128 | 0.0313 | 3 | c.110 others(24): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68630945 | A | ATTT | intron_variant | MODIFIER | HG01081.hp1 HG01243.hp2 HG01934.hp2 others(23): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(23): Show | 26 | 128 | 0.2031 | 3 | c.110 others(22): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68630967 | T | TTTA | intron_variant | MODIFIER | HG01346.hp1 HG01891.hp2 HG02109.hp2 others(8): Show |
a0001a0002a0006 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0008others(5): Show | a0001c0001t0001g0047a0001c0001t0001g0094a0001c0001t0001g0097others(8): Show | 11 | 128 | 0.0859 | 3 | c.110 others(22): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68794506 | T | TATA | intron_variant | MODIFIER | HG02486.hp1 HG02615.hp2 HG03540.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115a0001c0001t0001g0116a0001c0001t0001g0118 | 3 | 128 | 0.0234 | 3 | c.154 others(22): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68798288 | C | CTTT | intron_variant | MODIFIER | HG01109.hp1 HG02647.hp1 HG03195.hp1 others(1): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0002g0070a0001c0001t0005g0117a0001c0002t0001g0102others(1): Show | 4 | 128 | 0.0313 | 3 | c.154 others(24): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68809506 | A | ATGG | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG01071.hp1 others(85): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0005others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(85): Show | 88 | 128 | 0.6875 | 3 | c.155 others(22): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 12/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf48_chr8_13561869_13573288 | 13572095 | A | ATTT | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00558.hp1 HG00597.hp1 others(28): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 31 | 452 | 0.0686 | 3 | c.*41 others(14): Show |
C8orf48 | ENSG00000164743.5 | transcript | ENST00000297324.5 | protein_coding | 3808 | chr8 | TogoVar | ||||||
C8orf74_chr8_10667628_10705590 | 10696958 | G | GAAA | intron_variant | MODIFIER | HG00408.hp2 HG00544.hp2 HG00741.hp2 others(100): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0002c0003others(9): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(10): Show | a0001c0001t0001g0049a0001c0001t0001g0290a0002c0002t0001g0016others(82): Show | 103 | 430 | 0.2395 | 3 | c.242 others(18): Show |
C8orf74 | ENSG00000171060.11 | transcript | ENST00000304519.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf76_chr8_123214967_123246377 | 123235826 | A | AGAG | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp2 HG02622.hp1 others(9): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0002t0001g0017others(5): Show | 12 | 230 | 0.0522 | 3 | c.357 others(20): Show |
C8orf76 | ENSG00000189376.12 | transcript | ENST00000276704.6 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
C8orf82_chr8_144520733_144534111 | 144531244 | G | GAAA | upstream_gene_variant | MODIFIER | NA18954.hp1 NA18957.hp2 NA19009.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0001a0001c0002t0002g0006 | 3 | 398 | 0.0075 | 3 | c.-23 others(14): Show |
C8orf82 | ENSG00000213563.7 | transcript | ENST00000524821.6 | protein_coding | 2134 | chr8 | TogoVar | ||||||
C8orf88_chr8_90953471_90990238 | 90966498 | T | TATA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(130): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(1): Show | a0001c0001t0001g0003a0001c0001t0001g0005a0001c0001t0001g0010others(82): Show | 133 | 368 | 0.3614 | 3 | c.223 others(20): Show |
C8orf88 | ENSG00000253250.3 | transcript | ENST00000517562.3 | protein_coding | 4/5 | chr8 | TogoVar | ||||||
C8orf89_chr8_73236331_73264530 | 73241347 | T | TTTC | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG00544.hp1 others(118): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0002c0002t0002a0002c0002t0003 | a0001c0001t0002g0092a0002c0002t0002g0005a0002c0002t0002g0011others(68): Show | 121 | 344 | 0.3517 | 3 | c.*10 others(12): Show |
C8orf89 | ENSG00000274443.5 | transcript | ENST00000624510.4 | protein_coding | 4/4 | 109 | chr8 | TogoVar | |||||
C8orf89_chr8_73236331_73264530 | 73256130 | A | AAAT | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00423.hp1 others(62): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(3): Show | a0001c0001t0001g0004a0001c0001t0001g0027a0001c0001t0001g0041others(30): Show | 65 | 344 | 0.1890 | 3 | c.281 others(18): Show |
C8orf89 | ENSG00000274443.5 | transcript | ENST00000624510.4 | protein_coding | 2/3 | chr8 | TogoVar | ||||||
C8orf89_chr8_73236331_73264530 | 73258628 | A | ATTT | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG00597.hp1 others(58): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(1): Show | a0002c0002t0002g0019a0002c0002t0002g0022a0002c0002t0002g0023others(30): Show | 61 | 344 | 0.1773 | 3 | c.127 others(18): Show |
C8orf89 | ENSG00000274443.5 | transcript | ENST00000624510.4 | protein_coding | 1/3 | chr8 | TogoVar | ||||||
C8orf90_chr8_141509671_141523729 | 141521876 | C | CTTT | downstream_gene_variant | MODIFIER | HG00558.hp2 HG00741.hp2 HG01106.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0005a0001c0001t0001g0006others(1): Show | 12 | 450 | 0.0267 | 3 | c.*31 others(14): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 3148 | chr8 | TogoVar | ||||||
C9orf131_chr9_35037240_35050986 | 35046726 | C | CAAA | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00558.hp1 HG00609.hp2 others(38): Show |
a0001a0003a0008others(3): Show | a0001c0001a0003c0003a0003c0006others(4): Show | a0001c0001t0001a0003c0003t0001a0003c0006t0001others(4): Show | a0001c0001t0001g0001a0003c0003t0001g0001a0003c0003t0001g0004others(5): Show | 41 | 428 | 0.0958 | 3 | c.*85 others(12): Show |
C9orf131 | ENSG00000174038.13 | transcript | ENST00000312292.6 | protein_coding | 741 | chr9 | TogoVar | ||||||
C9orf152_chr9_110194561_110213159 | 110194568 | G | GTTT | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG01070.hp1 others(68): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0002g0002others(28): Show | 71 | 466 | 0.1524 | 3 | c.*63 others(14): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 4992 | chr9 | TogoVar | ||||||
C9orf153_chr9_86215265_86264657 | 86219856 | A | ATTT | downstream_gene_variant | MODIFIER | HG01255.hp2 HG02572.hp1 HG02615.hp1 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0009 | a0002c0002t0005g0005a0002c0002t0005g0188a0002c0002t0005g0227others(9): Show | 14 | 384 | 0.0365 | 3 | c.*18 others(14): Show |
C9orf153 | ENSG00000187753.13 | transcript | ENST00000339137.7 | protein_coding | 408 | chr9 | TogoVar | ||||||
C9orf153_chr9_86215265_86264657 | 86235741 | C | CAAA | intron_variant | MODIFIER | HG00544.hp2 HG01109.hp1 HG01243.hp2 others(22): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0226a0001c0001t0001g0232a0001c0001t0001g0259others(21): Show | 25 | 384 | 0.0651 | 3 | c.-26 others(20): Show |
C9orf153 | ENSG00000187753.13 | transcript | ENST00000339137.7 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
C9orf24_chr9_34374019_34402810 | 34374901 | C | CAAA | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(166): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(99): Show | 169 | 450 | 0.3756 | 3 | c.*42 others(14): Show |
C9orf24 | ENSG00000164972.14 | transcript | ENST00000297623.7 | protein_coding | 4117 | chr9 | TogoVar | ||||||
C9orf24_chr9_34374019_34402810 | 34385535 | C | CAAA | intron_variant | MODIFIER | HG01175.hp1 HG01243.hp1 HG01496.hp2 others(22): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0001a0001c0004t0001 | a0001c0001t0001g0019a0001c0001t0001g0025a0001c0001t0001g0150others(15): Show | 25 | 450 | 0.0556 | 3 | c.280 others(17): Show |
C9orf24 | ENSG00000164972.14 | transcript | ENST00000297623.7 | protein_coding | 2/6 | chr9 | TogoVar | ||||||
C9orf24_chr9_34374019_34402810 | 34388307 | A | ATTT | intron_variant | MODIFIER | HG01952.hp2 HG02071.hp1 HG02572.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0052a0001c0001t0001g0150a0001c0001t0001g0203others(2): Show | 6 | 450 | 0.0133 | 3 | c.136 others(20): Show |
C9orf24 | ENSG00000164972.14 | transcript | ENST00000297623.7 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
C9orf24_chr9_34374019_34402810 | 34388932 | C | CTTT | intron_variant | MODIFIER | HG01255.hp2 HG01361.hp1 HG03704.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0234a0001c0001t0001g0264a0001c0001t0001g0265others(4): Show | 7 | 450 | 0.0156 | 3 | c.136 others(20): Show |
C9orf24 | ENSG00000164972.14 | transcript | ENST00000297623.7 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
C9orf24_chr9_34374019_34402810 | 34389927 | A | ATTC | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG01074.hp2 others(51): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(3): Show | a0001c0001t0001g0025a0001c0001t0001g0158a0001c0002t0001g0141others(33): Show | 54 | 450 | 0.1200 | 3 | c.136 others(20): Show |
C9orf24 | ENSG00000164972.14 | transcript | ENST00000297623.7 | protein_coding | 1/6 | chr9 | TogoVar | ||||||
C9orf43_chr9_113405747_113434690 | 113409373 | A | AAAC | upstream_gene_variant | MODIFIER | HG02132.hp1 HG02148.hp2 HG02280.hp2 others(7): Show |
a0003a0004a0009 | a0003c0003a0004c0004a0009c0011 | a0003c0003t0002a0004c0004t0001a0009c0011t0002 | a0003c0003t0002g0006a0003c0003t0002g0081a0004c0004t0001g0019others(1): Show | 10 | 310 | 0.0323 | 3 | c.-16 others(14): Show |
C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 1373 | chr9 | TogoVar | ||||||
C9orf43_chr9_113405747_113434690 | 113425365 | G | GGCA | disruptive_inframe_insertion | MODERATE | HG02132.hp1 HG02148.hp2 HG03490.hp2 others(5): Show |
a0003a0009 | a0003c0003a0009c0011 | a0003c0003t0002a0009c0011t0002 | a0003c0003t0002g0006a0003c0003t0002g0081a0009c0011t0002g0006 | 8 | 310 | 0.0258 | 3 | c.906 others(10): Show |
p.Gln others(6): Show |
C9orf43 | ENSG00000157653.12 | transcript | ENST00000374165.6 | protein_coding | 10/14 | 1213/1994 | 909/1386 | 303/461 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |
C9orf50_chr9_129607225_129626101 | 129610300 | G | GCCC | downstream_gene_variant | MODIFIER | HG00642.hp1 HG00673.hp1 HG01099.hp1 others(28): Show |
a0002a0003a0008 | a0002c0002a0002c0005a0003c0003others(3): Show | a0002c0002t0001a0002c0005t0001a0002c0005t0002others(7): Show | a0002c0002t0001g0003a0002c0002t0001g0010a0002c0002t0001g0101others(14): Show | 31 | 410 | 0.0756 | 3 | c.*20 others(14): Show |
C9orf50 | ENSG00000179058.8 | transcript | ENST00000372478.5 | protein_coding | 1924 | chr9 | TogoVar | ||||||
C9orf50_chr9_129607225_129626101 | 129618874 | T | TGTG | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG06807.hp2 |
a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0029a0006c0008t0001g0052 | 3 | 410 | 0.0073 | 3 | c.716 others(18): Show |
C9orf50 | ENSG00000179058.8 | transcript | ENST00000372478.5 | protein_coding | 3/6 | chr9 | TogoVar | ||||||
C9orf57_chr9_72046376_72065613 | 72054914 | A | ATTT | intron_variant | MODIFIER | HG00099.hp1 HG00735.hp2 HG00738.hp1 others(28): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0042a0001c0001t0001g0093a0001c0001t0001g0107others(24): Show | 31 | 450 | 0.0689 | 3 | c.280 others(20): Show |
C9orf57 | ENSG00000204669.11 | transcript | ENST00000651200.2 | protein_coding | 4/4 | chr9 | TogoVar | ||||||
C9orf57_chr9_72046376_72065613 | 72061853 | C | CAAA | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00408.hp1 others(134): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0007a0001c0001t0001g0008others(83): Show | 137 | 450 | 0.3044 | 3 | c.-14 others(14): Show |
C9orf57 | ENSG00000204669.11 | transcript | ENST00000651200.2 | protein_coding | 1241 | chr9 | TogoVar | ||||||
C9orf72_chr9_27541546_27578481 | 27552515 | A | ATTT | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00408.hp1 others(78): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0010others(4): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0011others(42): Show | 81 | 438 | 0.1849 | 3 | c.109 others(22): Show |
C9orf72 | ENSG00000147894.17 | transcript | ENST00000380003.8 | protein_coding | 8/10 | chr9 | TogoVar | ||||||
C9orf72_chr9_27541546_27578481 | 27559268 | T | TAAA | intron_variant | MODIFIER | HG00733.hp1 HG02055.hp2 HG02148.hp1 others(4): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0005 | a0001c0002t0002g0252a0001c0002t0002g0260a0001c0002t0005g0055others(4): Show | 7 | 438 | 0.0160 | 3 | c.739 others(18): Show |
C9orf72 | ENSG00000147894.17 | transcript | ENST00000380003.8 | protein_coding | 6/10 | chr9 | TogoVar | ||||||
C9orf72_chr9_27541546_27578481 | 27561467 | A | ATGT | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(429): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(27): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0006others(263): Show | 432 | 438 | 0.9863 | 3 | c.665 others(18): Show |
C9orf72 | ENSG00000147894.17 | transcript | ENST00000380003.8 | protein_coding | 5/10 | chr9 | TogoVar |