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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C7orf57_chr7_48030543_48066297 | 48051770 | C | CTTTCT | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp1 HG03209.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0124a0001c0002t0001g0127a0001c0002t0001g0128others(2): Show | 5 | 404 | 0.0124 | 5 | c.606 others(20): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C8A_chr1_56849797_56923223 | 56900644 | C | CATGAG | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(321): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0010a0001c0018others(17): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(247): Show | 324 | 366 | 0.8853 | 5 | c.109 others(24): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C8B_chr1_56924207_56971015 | 56967316 | T | TAAAAC | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02258.hp1 HG02486.hp2 others(4): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0004t0001 | a0001c0001t0001g0064a0001c0001t0001g0071a0001c0001t0001g0179others(3): Show | 7 | 402 | 0.0174 | 5 | c.-13 others(16): Show |
C8B | ENSG00000021852.14 | transcript | ENST00000371237.9 | protein_coding | 1302 | chr1 | TogoVar | ||||||
C8G_chr9_136940243_136951975 | 136948745 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00733.hp2 HG01070.hp2 others(22): Show |
a0002a0004 | a0002c0003a0004c0005 | a0002c0003t0001a0004c0005t0001 | a0002c0003t0001g0003a0002c0003t0001g0007a0004c0005t0001g0003 | 25 | 416 | 0.0601 | 5 | c.*19 others(16): Show |
C8G | ENSG00000176919.13 | transcript | ENST00000371634.7 | protein_coding | 1771 | chr9 | TogoVar | ||||||
C8orf33_chr8_145047467_145061030 | 145050924 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG02258.hp1 HG02300.hp1 HG02809.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0005 | a0001c0001t0003g0002a0001c0001t0003g0004a0001c0001t0004g0001others(1): Show | 9 | 406 | 0.0222 | 5 | c.-15 others(16): Show |
C8orf33 | ENSG00000182307.14 | transcript | ENST00000331434.7 | protein_coding | 1542 | chr8 | TogoVar | ||||||
C8orf33_chr8_145047467_145061030 | 145052296 | G | GCGCCC | upstream_gene_variant | MODIFIER | HG00639.hp2 HG02074.hp1 HG02080.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0005 | 6 | 406 | 0.0148 | 5 | c.-19 others(14): Show |
C8orf33 | ENSG00000182307.14 | transcript | ENST00000331434.7 | protein_coding | 170 | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68331773 | T | TCCTTC | intron_variant | MODIFIER | HG01106.hp1 HG01168.hp1 NA18961.hp2 |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0002a0002c0004t0001 | a0001c0001t0001g0017a0001c0002t0002g0018a0002c0004t0001g0019 | 3 | 128 | 0.0234 | 5 | c.327 others(20): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68331783 | C | CTTTTT | intron_variant | MODIFIER | HG00735.hp2 HG01943.hp1 HG02615.hp1 others(1): Show |
a0001a0007a0009 | a0001c0001a0007c0011a0009c0015 | a0001c0001t0001a0007c0011t0001a0009c0015t0002 | a0001c0001t0001g0082a0001c0001t0001g0113a0007c0011t0001g0081others(1): Show | 4 | 128 | 0.0313 | 5 | c.327 others(20): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68352415 | A | ACTTTT | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01071.hp1 others(92): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(25): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(92): Show | 95 | 128 | 0.7422 | 5 | c.327 others(24): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68376184 | C | CATAAA | intron_variant | MODIFIER | HG01943.hp2 HG02970.hp1 HG03195.hp2 others(4): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0017others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0068a0001c0001t0002g0053a0001c0001t0002g0070others(4): Show | 7 | 128 | 0.0547 | 5 | c.327 others(24): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68426874 | A | AAAACC | intron_variant | MODIFIER | HG01071.hp1 HG01071.hp2 HG01081.hp2 others(51): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(51): Show | 54 | 128 | 0.4219 | 5 | c.328 others(24): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68465948 | T | TAATAA | intron_variant | MODIFIER | HG02647.hp1 HG03453.hp1 NA18522.hp2 |
a0001a0002a0003 | a0001c0001a0002c0003a0003c0006 | a0001c0001t0001a0002c0003t0001a0003c0006t0004 | a0001c0001t0001g0049a0002c0003t0001g0086a0003c0006t0004g0124 | 3 | 128 | 0.0234 | 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 | 68518886 | C | CAAAAA | intron_variant | MODIFIER | HG01346.hp1 HG01934.hp2 HG02723.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(4): Show | a0001c0001t0001g0083a0001c0001t0003g0077a0001c0002t0001g0096others(6): Show | 9 | 128 | 0.0703 | 5 | c.766 others(22): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 5/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68552839 | T | TTATTC | intron_variant | MODIFIER | HG01081.hp2 HG01106.hp2 HG01109.hp1 others(50): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0005a0002c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(16): Show | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(50): Show | 53 | 128 | 0.4141 | 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 | 68679324 | T | TAATAA | intron_variant | MODIFIER | HG02622.hp1 HG03516.hp2 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0005 | a0002c0003t0001g0036a0002c0003t0005g0073 | 2 | 128 | 0.0156 | 5 | c.124 others(26): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf48_chr8_13561869_13573288 | 13568587 | T | TGACTA | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(399): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0003a0001c0011others(13): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(18): Show | a0001c0001t0001g0000a0001c0001t0002g0000a0001c0001t0004g0000others(18): Show | 402 | 452 | 0.8894 | 5 | c.*63 others(14): Show |
C8orf48 | ENSG00000164743.5 | transcript | ENST00000297324.5 | protein_coding | 300 | chr8 | TogoVar | ||||||
C8orf58_chr8_22594599_22609142 | 22599058 | C | CCCTCT | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(80): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0008others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(5): Show | a0001c0001t0002g0002a0001c0001t0002g0008a0001c0001t0002g0011others(12): Show | 83 | 332 | 0.2500 | 5 | c.-66 others(14): Show |
C8orf58 | ENSG00000241852.11 | transcript | ENST00000289989.10 | protein_coding | 540 | chr8 | TogoVar | ||||||
C8orf88_chr8_90953471_90990238 | 90977948 | A | AAAAAC | intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG02559.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059a0001c0001t0002g0060a0001c0001t0002g0061others(6): Show | 9 | 368 | 0.0245 | 5 | c.147 others(20): Show |
C8orf88 | ENSG00000253250.3 | transcript | ENST00000517562.3 | protein_coding | 3/5 | chr8 | TogoVar | ||||||
C8orf88_chr8_90953471_90990238 | 90986542 | T | TTAGAG | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(158): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(95): Show | 161 | 368 | 0.4375 | 5 | c.-14 others(16): Show |
C8orf88 | ENSG00000253250.3 | transcript | ENST00000517562.3 | protein_coding | 1305 | chr8 | TogoVar | ||||||
C8orf89_chr8_73236331_73264530 | 73256726 | C | CAAAAA | intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG00741.hp2 others(30): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0003a0002c0002t0005 | a0002c0002t0002g0023a0002c0002t0002g0112a0002c0002t0002g0116others(10): Show | 33 | 344 | 0.0959 | 5 | c.281 others(20): Show |
C8orf89 | ENSG00000274443.5 | transcript | ENST00000624510.4 | protein_coding | 2/3 | chr8 | TogoVar | ||||||
C8orf90_chr8_141509671_141523729 | 141515429 | C | CCCCTG | intron_variant | MODIFIER | HG00558.hp2 HG00741.hp2 HG01106.hp1 others(29): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0005a0001c0001t0001g0021a0001c0001t0001g0031others(2): Show | 32 | 450 | 0.0711 | 5 | c.79+ others(18): Show |
C8orf90 | ENSG00000226490.2 | transcript | ENST00000643770.2 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C9_chr5_39279140_39369495 | 39315715 | T | TTAAAA | intron_variant | MODIFIER | HG02572.hp1 HG02818.hp1 HG03130.hp2 others(3): Show |
a0006a0008 | a0006c0006a0008c0011 | a0006c0006t0001a0008c0011t0001 | a0006c0006t0001g0053a0006c0006t0001g0120a0006c0006t0001g0124others(3): Show | 6 | 394 | 0.0152 | 5 | c.870 others(18): Show |
C9 | ENSG00000113600.12 | transcript | ENST00000263408.5 | protein_coding | 6/10 | chr5 | TogoVar | ||||||
C9orf152_chr9_110194561_110213159 | 110209886 | G | GAAAGA | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00323.hp1 others(295): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(35): Show | a0001c0001t0001g0023a0001c0001t0001g0077a0001c0001t0001g0123others(115): Show | 298 | 466 | 0.6395 | 5 | c.-23 others(16): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 1728 | chr9 | TogoVar | ||||||
C9orf152_chr9_110194561_110213159 | 110209892 | A | AAAGAG | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00738.hp2 HG01070.hp1 others(60): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0139a0001c0001t0002g0002a0001c0001t0002g0008others(27): Show | 63 | 466 | 0.1352 | 5 | c.-23 others(16): Show |
C9orf152 | ENSG00000188959.10 | transcript | ENST00000400613.5 | protein_coding | 1734 | chr9 | TogoVar | ||||||
C9orf24_chr9_34374019_34402810 | 34374901 | C | CAAAAA | downstream_gene_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG01928.hp2 others(15): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(12): Show | 18 | 450 | 0.0400 | 5 | c.*42 others(16): Show |
C9orf24 | ENSG00000164972.14 | transcript | ENST00000297623.7 | protein_coding | 4117 | chr9 | TogoVar | ||||||
C9orf72_chr9_27541546_27578481 | 27548435 | G | GAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00741.hp1 HG01175.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0016a0001c0001t0004g0047a0001c0001t0004g0186others(5): Show | 12 | 438 | 0.0274 | 5 | c.126 others(20): Show |
C9orf72 | ENSG00000147894.17 | transcript | ENST00000380003.8 | protein_coding | 10/10 | chr9 | TogoVar | ||||||
C9orf72_chr9_27541546_27578481 | 27573507 | G | GACCAC | upstream_gene_variant | MODIFIER | HG01884.hp1 HG02622.hp2 NA20129.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0170a0001c0001t0003g0171a0001c0001t0003g0172 | 3 | 438 | 0.0069 | 5 | c.-12 others(14): Show |
C9orf72 | ENSG00000147894.17 | transcript | ENST00000380003.8 | protein_coding | 27 | chr9 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51658101 | A | AGTCTT | intron_variant | MODIFIER | HG02451.hp1 HG02630.hp2 HG02647.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0008others(1): Show | a0001c0001t0002g0136a0001c0001t0004g0043a0001c0001t0004g0099others(4): Show | 7 | 156 | 0.0449 | 5 | c.466 others(22): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 4/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51731673 | A | AAGATT | intron_variant | MODIFIER | HG01167.hp2 HG01256.hp1 HG02451.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0051a0001c0001t0003g0024a0001c0001t0003g0063others(4): Show | 7 | 156 | 0.0449 | 5 | c.465 others(24): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 4/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51764045 | C | CAAATA | intron_variant | MODIFIER | HG02809.hp2 HG03041.hp2 HG03710.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0073a0001c0001t0002g0093a0001c0001t0003g0114others(1): Show | 4 | 156 | 0.0256 | 5 | c.280 others(24): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51889533 | A | AAAACC | intron_variant | MODIFIER | NA18950.hp1 NA18950.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008a0001c0001t0002g0148 | 2 | 156 | 0.0128 | 5 | c.279 others(24): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 51930227 | C | CTTGAG | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(107): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0009a0001c0001t0001g0019a0001c0001t0001g0025others(107): Show | 110 | 156 | 0.7051 | 5 | c.279 others(20): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 3/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 52051111 | G | GAAGAA | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(118): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0009a0001c0001t0001g0018a0001c0001t0001g0019others(118): Show | 121 | 156 | 0.7756 | 5 | c.136 others(24): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
CA10_chr17_51625320_52163714 | 52070336 | C | CCTCTT | intron_variant | MODIFIER | HG00408.hp1 HG00408.hp2 HG00423.hp1 others(151): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0009a0001c0001t0001g0018a0001c0001t0001g0019others(151): Show | 154 | 156 | 0.9872 | 5 | c.136 others(22): Show |
CA10 | ENSG00000154975.14 | transcript | ENST00000451037.7 | protein_coding | 2/8 | chr17 | TogoVar | ||||||
CA12_chr15_63316378_63386846 | 63343279 | C | CTTTTT | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00544.hp1 others(71): Show |
a0001a0004 | a0001c0001a0004c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(13): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0015others(67): Show | 74 | 356 | 0.2079 | 5 | c.430 others(22): Show |
CA12 | ENSG00000074410.14 | transcript | ENST00000178638.8 | protein_coding | 4/10 | chr15 | TogoVar | ||||||
CA12_chr15_63316378_63386846 | 63364332 | G | GAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00438.hp2 others(66): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0006others(62): Show | 69 | 356 | 0.1938 | 5 | c.106 others(24): Show |
CA12 | ENSG00000074410.14 | transcript | ENST00000178638.8 | protein_coding | 2/10 | chr15 | TogoVar | ||||||
CA13_chr8_85240458_85289073 | 85254772 | G | GTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG02145.hp2 HG02965.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0010 | a0001c0001t0002g0162a0001c0001t0002g0167a0001c0001t0002g0220others(4): Show | 8 | 350 | 0.0229 | 5 | c.235 others(22): Show |
CA13 | ENSG00000185015.8 | transcript | ENST00000321764.4 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
CA14_chr1_150252774_150270078 | 150254062 | G | GTTTTT | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01433.hp1 HG01433.hp2 others(45): Show |
a0001a0006a0007 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(19): Show | 48 | 416 | 0.1154 | 5 | c.-40 others(16): Show |
CA14 | ENSG00000118298.12 | transcript | ENST00000369111.9 | protein_coding | 3711 | chr1 | TogoVar | ||||||
CA14_chr1_150252774_150270078 | 150254063 | T | TTTTTG | upstream_gene_variant | MODIFIER | HG01175.hp2 HG02451.hp1 HG02622.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0054a0001c0001t0003g0016a0001c0001t0003g0017others(4): Show | 10 | 416 | 0.0240 | 5 | c.-40 others(16): Show |
CA14 | ENSG00000118298.12 | transcript | ENST00000369111.9 | protein_coding | 3710 | chr1 | TogoVar | ||||||
CA14_chr1_150252774_150270078 | 150260751 | G | GACTTT | intron_variant | MODIFIER | NA18977.hp1 NA19057.hp1 NA19074.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030a0001c0001t0001g0056 | 3 | 416 | 0.0072 | 5 | c.76+ others(18): Show |
CA14 | ENSG00000118298.12 | transcript | ENST00000369111.9 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
CA14_chr1_150252774_150270078 | 150260751 | G | GATTTT | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp2 others(65): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0018a0001c0001t0001g0036others(15): Show | 68 | 416 | 0.1635 | 5 | c.76+ others(18): Show |
CA14 | ENSG00000118298.12 | transcript | ENST00000369111.9 | protein_coding | 2/10 | chr1 | TogoVar | ||||||
CA14_chr1_150252774_150270078 | 150267790 | C | CTGGGG | downstream_gene_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG02622.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0016a0001c0001t0001g0054a0001c0001t0003g0017others(3): Show | 9 | 416 | 0.0216 | 5 | c.*31 others(16): Show |
CA14 | ENSG00000118298.12 | transcript | ENST00000369111.9 | protein_coding | 2713 | chr1 | TogoVar | ||||||
CA1_chr8_85322608_85383113 | 85344326 | T | TATATA | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG03041.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035a0001c0001t0001g0136a0001c0001t0001g0244others(1): Show | 5 | 324 | 0.0154 | 5 | c.-24 others(22): Show |
CA1 | ENSG00000133742.14 | transcript | ENST00000523022.6 | protein_coding | 1/7 | chr8 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87885163 | A | AAAAAC | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00639.hp2 others(56): Show |
a0001a0002a0003 | a0001c0002a0001c0003a0002c0011others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0003t0002others(2): Show | a0001c0002t0001g0249a0001c0002t0002g0032a0001c0002t0002g0033others(56): Show | 59 | 400 | 0.1475 | 5 | c.*29 others(16): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 2849 | chr16 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87892556 | A | AATAAT | intron_variant | MODIFIER | HG02165.hp1 NA18983.hp2 NA19064.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0157a0001c0002t0002g0213a0001c0003t0002g0257 | 3 | 400 | 0.0075 | 5 | c.619 others(20): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87901578 | C | CTTTCT | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00639.hp2 others(85): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(9): Show | a0001c0001t0001g0040a0001c0001t0001g0043a0001c0001t0001g0045others(85): Show | 88 | 400 | 0.2200 | 5 | c.618 others(20): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 5/6 | chr16 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87908989 | A | ATTTTT | intron_variant | MODIFIER | HG02486.hp2 HG02630.hp2 HG02723.hp2 others(9): Show |
a0001a0002a0003 | a0001c0001a0002c0005a0003c0006 | a0001c0001t0001a0002c0005t0001a0003c0006t0001 | a0001c0001t0001g0061a0001c0001t0001g0064a0001c0001t0001g0072others(9): Show | 12 | 400 | 0.0300 | 5 | c.341 others(22): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87913305 | C | CTTTTT | intron_variant | MODIFIER | HG00099.hp2 HG00544.hp2 HG00673.hp2 others(62): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0002others(6): Show | a0001c0001t0001g0027a0001c0001t0001g0031a0001c0001t0001g0047others(62): Show | 65 | 400 | 0.1625 | 5 | c.341 others(22): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87920620 | C | CTTATT | intron_variant | MODIFIER | HG02647.hp2 HG03225.hp1 NA20129.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060a0001c0001t0001g0061a0001c0001t0001g0361 | 3 | 400 | 0.0075 | 5 | c.340 others(22): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 2/6 | chr16 | TogoVar | ||||||
CA5A_chr16_87883013_87941529 | 87926221 | T | TATAAA | intron_variant | MODIFIER | HG01891.hp1 HG02055.hp2 HG02647.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0003t0002 | a0001c0001t0001g0221a0001c0001t0001g0360a0001c0001t0001g0361others(4): Show | 7 | 400 | 0.0175 | 5 | c.340 others(20): Show |
CA5A | ENSG00000174990.8 | transcript | ENST00000649794.3 | protein_coding | 2/6 | chr16 | TogoVar |