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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C8orf34_chr8_68325955_68824023 | 68465948 | TAATAA | T | intron_variant | MODIFIER | HG01081.hp2 HG01109.hp1 HG01109.hp2 others(14): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0001g0047a0001c0001t0001g0052a0001c0001t0001g0054others(14): Show | 17 | 128 | 0.1328 | -5 | c.608 others(22): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68567577 | CTTTTT | C | intron_variant | MODIFIER | HG01081.hp2 HG01106.hp2 HG01168.hp2 others(16): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0014a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0051a0001c0001t0001g0052a0001c0001t0001g0059others(16): Show | 19 | 128 | 0.1484 | -5 | c.110 others(26): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68590141 | AAAAGG | A | intron_variant | MODIFIER | HG02486.hp2 HG03195.hp2 NA18522.hp1 |
a0001a0002a0004 | a0001c0014a0002c0013a0004c0018 | a0001c0014t0004a0002c0013t0001a0004c0018t0007 | a0001c0014t0004g0008a0002c0013t0001g0095a0004c0018t0007g0126 | 3 | 128 | 0.0234 | -5 | c.110 others(26): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68592593 | CTTCTT | C | intron_variant | MODIFIER | HG00558.hp1 HG00609.hp1 HG00735.hp1 others(63): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0003a0001c0001t0001g0004a0001c0001t0001g0021others(63): Show | 66 | 128 | 0.5156 | -5 | c.110 others(26): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68613343 | GCAGGT | G | intron_variant | MODIFIER | HG01071.hp1 HG02486.hp2 HG02622.hp1 others(3): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0014others(2): Show | a0001c0001t0001a0001c0002t0002a0001c0014t0004others(3): Show | a0001c0001t0001g0083a0001c0002t0002g0085a0001c0014t0004g0008others(3): Show | 6 | 128 | 0.0469 | -5 | c.110 others(26): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 7/13 | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68798172 | AGAGAC | A | intron_variant | MODIFIER | HG00609.hp1 HG02055.hp1 HG02055.hp2 others(8): Show |
a0002a0003a0004 | a0002c0003a0002c0004a0003c0006others(1): Show | a0002c0003t0001a0002c0003t0002a0002c0004t0001others(4): Show | a0002c0003t0001g0034a0002c0003t0002g0015a0002c0003t0002g0026others(8): Show | 11 | 128 | 0.0859 | -5 | c.154 others(26): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 12/13 | chr8 | TogoVar | ||||||
C8orf74_chr8_10667628_10705590 | 10675087 | AGCCAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(113): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0013a0002c0002others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0013t0001others(7): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0009others(93): Show | 116 | 430 | 0.2698 | -5 | c.241 others(20): Show |
C8orf74 | ENSG00000171060.11 | transcript | ENST00000304519.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf74_chr8_10667628_10705590 | 10696416 | TTTTTC | T | intron_variant | MODIFIER | HG01517.hp2 HG02615.hp2 HG02818.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0003others(1): Show | a0001c0001t0001a0002c0002t0002a0002c0003t0002others(1): Show | a0001c0001t0001g0149a0002c0002t0002g0255a0002c0003t0002g0315others(2): Show | 5 | 430 | 0.0116 | -5 | c.242 others(22): Show |
C8orf74 | ENSG00000171060.11 | transcript | ENST00000304519.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf74_chr8_10667628_10705590 | 10696441 | CTTTTT | C | intron_variant | MODIFIER | HG00544.hp2 HG01978.hp2 HG02004.hp2 others(28): Show |
a0003a0005 | a0003c0004a0005c0007 | a0003c0004t0002a0005c0007t0002 | a0003c0004t0002g0002a0003c0004t0002g0003a0003c0004t0002g0023others(16): Show | 31 | 430 | 0.0721 | -5 | c.242 others(22): Show |
C8orf74 | ENSG00000171060.11 | transcript | ENST00000304519.10 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf76_chr8_123214967_123246377 | 123233195 | ATAAAG | A | intron_variant | MODIFIER | HG01257.hp1 HG01258.hp2 HG03041.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0029a0001c0001t0002g0030 | 4 | 230 | 0.0174 | -5 | c.358 others(22): Show |
C8orf76 | ENSG00000189376.12 | transcript | ENST00000276704.6 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
C8orf89_chr8_73236331_73264530 | 73244160 | GTTCAC | G | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG02486.hp1 others(4): Show |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0032a0002c0002t0002g0052a0002c0002t0002g0155others(1): Show | 7 | 344 | 0.0204 | -5 | c.338 others(22): Show |
C8orf89 | ENSG00000274443.5 | transcript | ENST00000624510.4 | protein_coding | 3/3 | chr8 | TogoVar | ||||||
C8orf90_chr8_141509671_141523729 | 141521876 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01099.hp2 others(12): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0011others(8): Show | 15 | 450 | 0.0333 | -5 | c.*31 others(16): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 3148 | chr8 | TogoVar | ||||||
C9orf152_chr9_110194561_110213159 | 110209892 | AAAGAG | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG01106.hp2 HG01123.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0006a0001c0001t0010others(2): Show | a0001c0001t0002g0010a0001c0001t0006g0004a0001c0001t0006g0040others(4): Show | 14 | 466 | 0.0300 | -5 | c.-23 others(16): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 1734 | chr9 | TogoVar | ||||||
C9orf153_chr9_86215265_86264657 | 86227314 | TTTTTA | T | intron_variant | MODIFIER | HG01255.hp2 HG02572.hp1 HG02615.hp1 others(11): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0009 | a0002c0002t0005g0005a0002c0002t0005g0188a0002c0002t0005g0227others(9): Show | 14 | 384 | 0.0365 | -5 | c.242 others(20): Show |
C9orf153 | ENSG00000187753.13 | transcript | ENST00000339137.7 | protein_coding | 3/3 | chr9 | TogoVar | ||||||
C9orf153_chr9_86215265_86264657 | 86233690 | TACAGG | T | intron_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02257.hp2 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0024a0001c0001t0001g0197a0001c0001t0001g0220others(23): Show | 28 | 384 | 0.0729 | -5 | c.-26 others(22): Show |
C9orf153 | ENSG00000187753.13 | transcript | ENST00000339137.7 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
C9orf153_chr9_86215265_86264657 | 86244184 | TAAATA | T | intron_variant | MODIFIER | HG02258.hp1 HG02809.hp2 HG03139.hp2 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0008 | a0001c0001t0001g0317a0003c0003t0008g0011 | 3 | 384 | 0.0078 | -5 | c.-26 others(24): Show |
C9orf153 | ENSG00000187753.13 | transcript | ENST00000339137.7 | protein_coding | 1/3 | chr9 | TogoVar | ||||||
C9orf40_chr9_74941583_74957912 | 74944963 | CTTTCT | C | downstream_gene_variant | MODIFIER | HG00597.hp1 HG00639.hp1 HG00673.hp2 others(74): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0025others(2): Show | 77 | 410 | 0.1878 | -5 | c.*30 others(16): Show |
C9orf40 | ENSG00000135045.7 | transcript | ENST00000376854.6 | protein_coding | 1619 | chr9 | TogoVar | ||||||
C9orf40_chr9_74941583_74957912 | 74945930 | AAGAAT | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp1 others(119): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0003a0001c0002t0008 | a0001c0002t0001g0001a0001c0002t0001g0006a0001c0002t0001g0011others(8): Show | 122 | 410 | 0.2976 | -5 | c.*21 others(16): Show |
C9orf40 | ENSG00000135045.7 | transcript | ENST00000376854.6 | protein_coding | 652 | chr9 | TogoVar | ||||||
C9orf57_chr9_72046376_72065613 | 72059357 | TGAAAG | T | 5_prime_UTR_variant | MODIFIER | HG01255.hp1 HG01891.hp2 HG02486.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0069a0001c0001t0003g0070a0001c0001t0003g0275others(4): Show | 9 | 450 | 0.0200 | -5 | c.-31 others(12): Show |
C9orf57 | ENSG00000204669.11 | transcript | ENST00000651200.2 | protein_coding | 2/5 | 27 | chr9 | TogoVar | |||||
C9orf72_chr9_27541546_27578481 | 27560801 | CTCTTT | C | intron_variant | MODIFIER | HG00642.hp1 HG02055.hp1 HG02622.hp1 others(9): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0003a0001c0001t0011a0001c0004t0003 | a0001c0001t0003g0038a0001c0001t0003g0056a0001c0001t0003g0057others(8): Show | 12 | 438 | 0.0274 | -5 | c.666 others(20): Show |
C9orf72 | ENSG00000147894.17 | transcript | ENST00000380003.8 | protein_coding | 5/10 | chr9 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51764045 | CAAATA | C | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp2 HG01891.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0001g0069a0001c0001t0001g0082a0001c0001t0001g0097others(5): Show | 8 | 156 | 0.0513 | -5 | c.280 others(24): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51804250 | CAAGAA | C | intron_variant | MODIFIER | HG02922.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0081a0001c0001t0003g0101 | 2 | 156 | 0.0128 | -5 | c.280 others(24): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51824077 | ATGTTT | A | intron_variant | MODIFIER | HG01516.hp1 HG01884.hp1 HG02055.hp2 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0051a0001c0001t0001g0111a0001c0001t0002g0054others(11): Show | 14 | 156 | 0.0897 | -5 | c.280 others(24): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51853119 | CTAATA | C | intron_variant | MODIFIER | HG01516.hp1 HG01891.hp1 HG02056.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0115a0001c0001t0002g0012a0001c0001t0002g0090others(3): Show | 6 | 156 | 0.0385 | -5 | c.279 others(24): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51899478 | GTTGAT | G | intron_variant | MODIFIER | HG02145.hp2 HG02886.hp1 HG03130.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0134a0001c0002t0001g0095a0001c0002t0001g0117 | 3 | 156 | 0.0192 | -5 | c.279 others(24): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51924274 | GTTTGT | G | intron_variant | MODIFIER | HG02615.hp1 HG02809.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0115a0001c0001t0003g0068 | 2 | 156 | 0.0128 | -5 | c.279 others(22): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51983491 | CTACTT | C | intron_variant | MODIFIER | HG01081.hp2 HG02559.hp2 HG02630.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0002a0001c0002t0001a0001c0003t0001 | a0001c0001t0002g0136a0001c0002t0001g0116a0001c0003t0001g0044 | 3 | 156 | 0.0192 | -5 | c.137 others(24): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 52029854 | TAACTG | T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(45): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0009a0001c0001t0001g0046a0001c0001t0001g0059others(45): Show | 48 | 156 | 0.3077 | -5 | c.136 others(24): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 52042749 | ATTCAT | A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00438.hp2 others(20): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0009a0001c0001t0001g0046a0001c0001t0001g0059others(20): Show | 23 | 156 | 0.1474 | -5 | c.136 others(24): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 52060664 | TGTTGA | T | intron_variant | MODIFIER | HG02572.hp1 HG02622.hp1 HG02630.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0051a0001c0001t0001g0153a0001c0001t0002g0085others(3): Show | 6 | 156 | 0.0385 | -5 | c.136 others(24): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 52093231 | TTAATA | T | intron_variant | MODIFIER | HG02630.hp1 HG02630.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0153a0001c0001t0002g0136a0001c0001t0004g0043 | 3 | 156 | 0.0192 | -5 | c.62- others(22): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 1/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 52160797 | TCTTTC | T | upstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp1 HG01358.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0042a0001c0001t0001g0097a0001c0001t0002g0071others(4): Show | 7 | 156 | 0.0449 | -5 | c.-30 others(16): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 2084 | chr17 | TogoVar | ||||||
CA11_chr19_48632946_48651187 | 48645788 | GACTGA | G | 5_prime_UTR_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02717.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0025a0001c0001t0002g0032a0001c0001t0002g0057others(4): Show | 10 | 392 | 0.0255 | -5 | c.-16 others(14): Show |
CA11 | ENSG00000063180.9 | transcript | ENST00000084798.9 | protein_coding | 1/9 | 157 | chr19 | TogoVar | |||||
CA12_chr15_63316378_63386846 | 63336543 | CTTTTT | C | intron_variant | MODIFIER | HG01074.hp1 HG01256.hp1 HG01258.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0057a0001c0001t0059 | a0001c0001t0013g0012a0001c0001t0013g0130a0001c0001t0013g0151others(4): Show | 7 | 356 | 0.0197 | -5 | c.874 others(22): Show |
CA12 | ENSG00000074410.14 | transcript | ENST00000178638.8 | protein_coding | 8/10 | chr15 | TogoVar | ||||||
CA12_chr15_63316378_63386846 | 63383793 | GAGAAT | G | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00544.hp1 others(76): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(27): Show | a0001c0001t0001g0004a0001c0001t0001g0006a0001c0001t0001g0145others(73): Show | 79 | 356 | 0.2219 | -5 | c.-20 others(16): Show |
CA12 | ENSG00000074410.14 | transcript | ENST00000178638.8 | protein_coding | 1948 | chr15 | TogoVar | ||||||
CA13_chr8_85240458_85289073 | 85245988 | TTAAAC | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp1 others(157): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0002a0001c0001t0006a0001c0001t0007others(15): Show | a0001c0001t0002g0001a0001c0001t0002g0007a0001c0001t0002g0010others(103): Show | 160 | 350 | 0.4571 | -5 | c.37+ others(18): Show |
CA13 | ENSG00000185015.8 | transcript | ENST00000321764.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CA14_chr1_150252774_150270078 | 150254996 | CATGGA | C | upstream_gene_variant | MODIFIER | HG01175.hp2 HG02451.hp1 HG02451.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0016a0001c0001t0001g0054a0001c0001t0003g0016others(6): Show | 16 | 416 | 0.0385 | -5 | c.-31 others(16): Show |
CA14 | ENSG00000118298.12 | transcript | ENST00000369111.9 | protein_coding | 2777 | chr1 | TogoVar | ||||||
CA1_chr8_85322608_85383113 | 85369760 | TGGTGG | T | intron_variant | MODIFIER | HG01167.hp2 HG01884.hp2 HG02630.hp1 others(5): Show |
a0001a0004 | a0001c0001a0001c0010a0004c0004 | a0001c0001t0001a0001c0010t0001a0004c0004t0001 | a0001c0001t0001g0148a0001c0001t0001g0174a0001c0001t0001g0175others(4): Show | 8 | 324 | 0.0247 | -5 | c.-25 others(22): Show |
CA1 | ENSG00000133742.14 | transcript | ENST00000523022.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87885163 | AAAAAC | A | downstream_gene_variant | MODIFIER | HG00639.hp1 HG01069.hp1 HG01071.hp2 others(31): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0005others(1): Show | a0001c0001t0001a0001c0003t0002a0002c0005t0001others(1): Show | a0001c0001t0001g0046a0001c0001t0001g0047a0001c0001t0001g0048others(31): Show | 34 | 400 | 0.0850 | -5 | c.*29 others(16): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 2849 | chr16 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87913660 | CCTCCT | C | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02451.hp2 others(11): Show |
a0001a0002a0005 | a0001c0001a0001c0003a0002c0005others(1): Show | a0001c0001t0001a0001c0003t0002a0002c0005t0001others(1): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(11): Show | 14 | 400 | 0.0350 | -5 | c.341 others(22): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87915526 | ATTTTT | A | intron_variant | MODIFIER | HG02258.hp1 HG02615.hp2 HG02809.hp2 others(8): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0005others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0005t0001others(1): Show | a0001c0001t0001g0057a0001c0001t0001g0061a0001c0001t0001g0234others(8): Show | 11 | 400 | 0.0275 | -5 | c.341 others(24): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87926221 | TATAAA | T | intron_variant | MODIFIER | HG02258.hp2 HG02280.hp1 HG02280.hp2 others(5): Show |
a0001a0003 | a0001c0001a0003c0006a0003c0009 | a0001c0001t0001a0001c0001t0003a0003c0006t0001others(1): Show | a0001c0001t0001g0068a0001c0001t0001g0380a0001c0001t0001g0386others(5): Show | 8 | 400 | 0.0200 | -5 | c.340 others(20): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
CA5B_chrX_15733270_15793411 | 15745183 | AAAAAG | A | intron_variant | MODIFIER | HG01071.hp2 HG02074.hp1 HG02451.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012a0001c0001t0013others(3): Show | a0001c0001t0001g0096a0001c0001t0001g0161a0001c0001t0012g0262others(6): Show | 9 | 274 | 0.0329 | -5 | c.-53 others(22): Show |
CA5B | ENSG00000169239.14 | transcript | ENST00000318636.8 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CA5B_chrX_15733270_15793411 | 15759734 | CTTTTT | C | intron_variant | MODIFIER | HG01257.hp1 HG02451.hp1 HG02965.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0005a0001c0001t0013a0001c0001t0030others(2): Show | a0001c0001t0005g0086a0001c0001t0013g0249a0001c0001t0013g0258others(4): Show | 7 | 274 | 0.0256 | -5 | c.143 others(22): Show |
CA5B | ENSG00000169239.14 | transcript | ENST00000318636.8 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CA5B_chrX_15733270_15793411 | 15773402 | ATTTTT | A | intron_variant | MODIFIER | HG03453.hp1 NA19030.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0203a0001c0002t0002g0229 | 2 | 274 | 0.0073 | -5 | c.459 others(20): Show |
CA5B | ENSG00000169239.14 | transcript | ENST00000318636.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CAAP1_chr9_26835685_26897802 | 26847198 | ATTTTT | A | intron_variant | MODIFIER | HG00438.hp2 HG00597.hp1 HG00639.hp1 others(88): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0013others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0037others(81): Show | 91 | 372 | 0.2446 | -5 | c.740 others(22): Show |
CAAP1 | ENSG00000120159.13 | transcript | ENST00000333916.8 | protein_coding | 5/5 | chr9 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49329545 | ATATAT | A | intron_variant | MODIFIER | HG00408.hp2 NA18965.hp2 NA19004.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0069a0001c0002t0002g0182a0001c0002t0002g0192others(1): Show | 4 | 324 | 0.0124 | -5 | c.834 others(22): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49413105 | GAAAAC | G | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG00639.hp1 others(93): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0050a0001c0001t0001g0094others(92): Show | 96 | 324 | 0.2963 | -5 | c.-32 others(24): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 3/10 | chr13 | TogoVar | ||||||
CAB39L_chr13_49303650_49449064 | 49436553 | CTTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(1): Show | a0001c0001t0001g0111a0001c0001t0001g0112a0001c0001t0001g0136others(4): Show | 7 | 324 | 0.0216 | -5 | c.-24 others(24): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 1/10 | chr13 | TogoVar | ||||||
CAB39_chr2_230707842_230826075 | 230783442 | AGTTTT | A | intron_variant | MODIFIER | HG01109.hp2 HG02027.hp2 HG02055.hp2 others(63): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0026a0001c0001t0002g0096a0001c0001t0003g0180others(63): Show | 66 | 342 | 0.1930 | -5 | c.115 others(22): Show |
CAB39 | ENSG00000135932.12 | transcript | ENST00000258418.10 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |