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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CENPK_chr5_65512766_65568168 | 65563628 | CTCTCACT | C | upstream_gene_variant | MODIFIER | HG00741.hp2 HG01256.hp1 HG01952.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0262a0001c0001t0004g0240a0001c0001t0004g0241others(29): Show | 32 | 374 | 0.0856 | -7 | c.-67 others(16): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 461 | chr5 | TogoVar | ||||||
CENPK_chr5_65512766_65568168 | 65564318 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(80): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0235a0001c0001t0001g0236a0001c0001t0001g0237others(77): Show | 83 | 374 | 0.2219 | -7 | c.-13 others(18): Show |
CENPK | ENSG00000123219.13 | transcript | ENST00000396679.6 | protein_coding | 1151 | chr5 | TogoVar | ||||||
CENPP_chr9_92320953_92625529 | 92449437 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00639.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0013others(1): Show | a0001c0001t0001g0092a0001c0001t0001g0111a0001c0001t0001g0112others(6): Show | 9 | 260 | 0.0346 | -7 | c.564 others(26): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92528614 | CCACCAGT | C | intron_variant | MODIFIER | HG00642.hp2 HG01358.hp1 HG02300.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0009a0001c0001t0008g0010a0001c0001t0008g0011others(4): Show | 7 | 260 | 0.0269 | -7 | c.565 others(26): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CENPP_chr9_92320953_92625529 | 92533329 | ATATATAT | A | intron_variant | MODIFIER | HG03209.hp1 NA18966.hp2 NA18975.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0004a0001c0001t0009 | a0001c0001t0002g0054a0001c0001t0004g0004a0001c0001t0009g0046others(1): Show | 4 | 260 | 0.0154 | -7 | c.565 others(26): Show |
CENPP | ENSG00000188312.15 | transcript | ENST00000375587.8 | protein_coding | 5/7 | chr9 | TogoVar | ||||||
CENPQ_chr6_49458370_49498107 | 49482655 | CTCGGCGA | C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00408.hp1 others(143): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0010others(3): Show | a0001c0001t0001g0003a0001c0001t0001g0006a0001c0001t0001g0010others(106): Show | 146 | 362 | 0.4033 | -7 | c.477 others(24): Show |
CENPQ | ENSG00000031691.7 | transcript | ENST00000335783.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CENPVL2_chrX_51676212_51687831 | 51685836 | GTGTGTGT | G | upstream_gene_variant | MODIFIER | HG03540.hp2 NA19088.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 237 | 0.0084 | -7 | c.-30 others(18): Show |
CENPVL2 | ENSG00000283093.1 | transcript | ENST00000634648.1 | protein_coding | 3006 | chrX | TogoVar | ||||||
CENPV_chr17_16337537_16358469 | 16354411 | CTTTTTTT | C | upstream_gene_variant | MODIFIER | HG00438.hp1 HG01975.hp2 HG02683.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0011others(2): Show | 7 | 356 | 0.0197 | -7 | c.-98 others(16): Show |
CENPV | ENSG00000166582.11 | transcript | ENST00000299736.5 | protein_coding | 943 | chr17 | TogoVar | ||||||
CEP104_chr1_3807086_3862211 | 3856816 | GCCCGCGC | G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(105): Show |
a0001a0003a0004others(6): Show | a0001c0001a0003c0003a0004c0007others(6): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0007others(20): Show | a0001c0001t0003g0009a0001c0001t0003g0025a0001c0001t0003g0026others(91): Show | 108 | 382 | 0.2827 | -7 | c.-15 others(20): Show |
CEP104 | ENSG00000116198.14 | transcript | ENST00000378230.8 | protein_coding | 1/21 | chr1 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65989245 | AAAAAAAG | A | intron_variant | MODIFIER | HG00280.hp2 HG00642.hp1 HG00735.hp2 others(23): Show |
a0001a0002a0005 | a0001c0003a0002c0001a0005c0009 | a0001c0003t0001a0002c0001t0001a0002c0001t0002others(2): Show | a0001c0003t0001g0042a0001c0003t0001g0082a0001c0003t0001g0107others(23): Show | 26 | 112 | 0.2321 | -7 | c.173 others(28): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | ||||||
CEP112_chr17_65630537_66197133 | 65992938 | ATTTTTAC | A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG00642.hp1 others(63): Show |
a0001a0002a0004others(2): Show | a0001c0003a0002c0001a0002c0004others(5): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0006others(13): Show | a0001c0003t0001g0006a0001c0003t0001g0007a0001c0003t0001g0009others(63): Show | 66 | 112 | 0.5893 | -7 | c.173 others(28): Show |
CEP112 | ENSG00000154240.18 | transcript | ENST00000535342.7 | protein_coding | 17/26 | chr17 | TogoVar | ||||||
CEP120_chr5_123339892_123428403 | 123356612 | AATTTGTC | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(158): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0002a0002c0009others(4): Show | a0001c0006t0001a0002c0002t0001a0002c0002t0014others(8): Show | a0001c0006t0001g0103a0002c0002t0001g0005a0002c0002t0001g0016others(141): Show | 161 | 376 | 0.4282 | -7 | c.258 others(26): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 18/19 | chr5 | TogoVar | ||||||
CEP120_chr5_123339892_123428403 | 123414971 | CAAAAAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00423.hp1 others(140): Show |
a0001a0002a0003others(1): Show | a0001c0006a0002c0002a0002c0009others(3): Show | a0001c0006t0002a0002c0002t0001a0002c0002t0014others(7): Show | a0001c0006t0002g0324a0002c0002t0001g0005a0002c0002t0001g0016others(123): Show | 143 | 376 | 0.3803 | -7 | c.321 others(24): Show |
CEP120 | ENSG00000168944.17 | transcript | ENST00000306467.10 | protein_coding | 3/19 | chr5 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80520989 | ATTTTTTT | A | intron_variant | MODIFIER | HG02145.hp2 HG02280.hp1 HG02572.hp1 others(4): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0007others(1): Show | a0001c0001t0004a0001c0001t0005a0002c0002t0004others(2): Show | a0001c0001t0004g0094a0001c0001t0005g0011a0001c0001t0005g0013others(4): Show | 7 | 164 | 0.0427 | -7 | c.307 others(26): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 23/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80626470 | CAAAAAAA | C | intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG00735.hp1 others(56): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0012a0001c0014others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(14): Show | a0001c0001t0001g0019a0001c0001t0001g0020a0001c0001t0001g0025others(56): Show | 59 | 164 | 0.3598 | -7 | c.280 others(28): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 19/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80856715 | CTTTTCTT | C | intron_variant | MODIFIER | HG02280.hp1 HG02922.hp2 HG03195.hp2 others(4): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0002a0001c0001t0005a0005c0005t0001 | a0001c0001t0002g0129a0001c0001t0002g0130a0001c0001t0005g0009others(4): Show | 7 | 164 | 0.0427 | -7 | c.762 others(24): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 9/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80856720 | CTTTTTTT | C | intron_variant | MODIFIER | HG00642.hp2 HG01109.hp1 HG01175.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0001c0009a0002c0002others(1): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0002g0112a0001c0001t0002g0156a0001c0001t0002g0157others(13): Show | 16 | 164 | 0.0976 | -7 | c.762 others(24): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 9/24 | chr14 | TogoVar | ||||||
CEP128_chr14_80491479_80946738 | 80944822 | CAAAAAAA | C | upstream_gene_variant | MODIFIER | HG00735.hp2 HG01175.hp1 HG01243.hp1 others(18): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0009a0003c0003others(3): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0006others(5): Show | a0001c0001t0002g0104a0001c0001t0002g0106a0001c0001t0002g0107others(18): Show | 21 | 164 | 0.1281 | -7 | c.-34 others(18): Show |
CEP128 | ENSG00000100629.17 | transcript | ENST00000555265.6 | protein_coding | 3085 | chr14 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84131822 | GAGCATTT | G | intron_variant | MODIFIER | HG02723.hp2 HG02809.hp2 NA20129.hp2 |
a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0116a0001c0007t0002g0117a0001c0007t0002g0118 | 3 | 214 | 0.0140 | -7 | c.387 others(26): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 25/26 | chr6 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84137372 | TTCCACTA | T | intron_variant | MODIFIER | HG01109.hp1 HG02486.hp1 HG03139.hp2 |
a0001 | a0001c0004 | a0001c0004t0002a0001c0004t0007 | a0001c0004t0002g0189a0001c0004t0002g0190a0001c0004t0007g0207 | 3 | 214 | 0.0140 | -7 | c.387 others(26): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 25/26 | chr6 | TogoVar | ||||||
CEP162_chr6_84119250_84232643 | 84170373 | CAAAAAAA | C | intron_variant | MODIFIER | HG01109.hp2 HG01884.hp2 HG02055.hp1 others(25): Show |
a0001a0002a0008 | a0001c0001a0001c0005a0001c0007others(3): Show | a0001c0001t0002a0001c0005t0004a0001c0005t0005others(4): Show | a0001c0001t0002g0001a0001c0001t0002g0002a0001c0001t0002g0028others(23): Show | 28 | 214 | 0.1308 | -7 | c.228 others(24): Show |
CEP162 | ENSG00000135315.12 | transcript | ENST00000403245.8 | protein_coding | 17/26 | chr6 | TogoVar | ||||||
CEP164_chr11_117322854_117418266 | 117339511 | CTTTGTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00741.hp1 others(14): Show |
a0003a0004a0005others(1): Show | a0003c0003a0004c0009a0005c0006others(1): Show | a0003c0003t0004a0003c0003t0017a0004c0009t0008others(2): Show | a0003c0003t0004g0035a0003c0003t0004g0108a0003c0003t0004g0110others(14): Show | 17 | 390 | 0.0436 | -7 | c.82+ others(20): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 3/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP164_chr11_117322854_117418266 | 117352481 | GTTCAAGA | G | intron_variant | MODIFIER | HG02145.hp2 HG02451.hp1 NA20129.hp1 |
a0004a0008a0024 | a0004c0034a0008c0011a0024c0030 | a0004c0034t0007a0008c0011t0007a0024c0030t0021 | a0004c0034t0007g0039a0008c0011t0007g0028a0024c0030t0021g0038 | 3 | 390 | 0.0077 | -7 | c.393 others(22): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 5/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP164_chr11_117322854_117418266 | 117363759 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00621.hp2 others(12): Show |
a0002 | a0002c0001 | a0002c0001t0003a0002c0001t0004 | a0002c0001t0003g0002a0002c0001t0003g0092a0002c0001t0003g0185others(9): Show | 15 | 390 | 0.0385 | -7 | c.765 others(22): Show |
CEP164 | ENSG00000110274.16 | transcript | ENST00000278935.8 | protein_coding | 8/32 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
CEP170_chr1_243119428_243260281 | 243245730 | CAAACAAA | C | intron_variant | MODIFIER | HG02818.hp2 HG03041.hp1 HG03225.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0054a0001c0001t0001g0055a0001c0001t0001g0056others(1): Show | 4 | 303 | 0.0132 | -7 | c.-42 others(24): Show |
CEP170 | ENSG00000143702.16 | transcript | ENST00000366542.6 | protein_coding | 1/19 | chr1 | TogoVar | ||||||
CEP192_chr18_12986362_13130036 | 12990222 | TGTGTGTG | T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG01099.hp2 HG03834.hp1 |
a0005 | a0005c0005 | a0005c0005t0001 | a0005c0005t0001g0135a0005c0005t0001g0136a0005c0005t0001g0137 | 3 | 392 | 0.0077 | -7 | c.-12 others(18): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 1139 | chr18 | TogoVar | ||||||
CEP192_chr18_12986362_13130036 | 12999828 | ATTTTTTT | A | intron_variant | MODIFIER | HG00099.hp2 HG00597.hp1 HG01071.hp2 others(60): Show |
a0005a0008a0014others(4): Show | a0005c0005a0008c0008a0014c0014others(4): Show | a0005c0005t0001a0008c0008t0001a0014c0014t0001others(4): Show | a0005c0005t0001g0013a0005c0005t0001g0015a0005c0005t0001g0116others(58): Show | 63 | 392 | 0.1607 | -7 | c.164 others(22): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 2/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CEP192_chr18_12986362_13130036 | 13000091 | CTTTTTTT | C | intron_variant | MODIFIER | HG00621.hp2 HG01167.hp1 HG02615.hp1 others(9): Show |
a0001a0005a0009others(2): Show | a0001c0037a0005c0005a0009c0009others(2): Show | a0001c0037t0001a0005c0005t0001a0009c0009t0001others(2): Show | a0001c0037t0001g0223a0005c0005t0001g0125a0009c0009t0001g0003others(6): Show | 12 | 392 | 0.0306 | -7 | c.164 others(22): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 2/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CEP192_chr18_12986362_13130036 | 13046829 | CTTTTTTT | C | intron_variant | MODIFIER | HG02572.hp2 HG02630.hp1 HG02717.hp2 others(3): Show |
a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0129a0008c0008t0001g0130a0008c0008t0001g0131others(3): Show | 6 | 392 | 0.0153 | -7 | c.206 others(26): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 15/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CEP192_chr18_12986362_13130036 | 13074142 | TCTATATC | T | intron_variant | MODIFIER | HG01891.hp1 HG02145.hp2 HG02572.hp2 others(5): Show |
a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0129a0008c0008t0001g0130a0008c0008t0001g0131others(5): Show | 8 | 392 | 0.0204 | -7 | c.561 others(24): Show |
CEP192 | ENSG00000101639.19 | transcript | ENST00000506447.5 | protein_coding | 30/44 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CEP350_chr1_179949810_180119875 | 180099780 | ATTTTTTT | A | intron_variant | MODIFIER | HG00323.hp2 HG00544.hp2 HG00558.hp1 others(87): Show |
a0001a0014a0015others(5): Show | a0001c0001a0001c0011a0001c0033others(7): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(11): Show | a0001c0001t0001g0037a0001c0001t0001g0038a0001c0001t0001g0040others(87): Show | 90 | 248 | 0.3629 | -7 | c.918 others(24): Show |
CEP350 | ENSG00000135837.17 | transcript | ENST00000367607.8 | protein_coding | 37/37 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CEP41_chr7_130388771_130446016 | 130389406 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG01081.hp2 HG01256.hp1 HG01256.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0016others(4): Show | a0001c0001t0002g0036a0001c0001t0002g0043a0001c0001t0002g0044others(8): Show | 11 | 346 | 0.0318 | -7 | c.*94 others(18): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 4364 | chr7 | TogoVar | ||||||
CEP41_chr7_130388771_130446016 | 130432588 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG02015.hp1 NA18945.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221a0001c0001t0001g0222a0001c0001t0001g0223others(4): Show | 7 | 346 | 0.0202 | -7 | c.34- others(22): Show |
CEP41 | ENSG00000106477.20 | transcript | ENST00000223208.10 | protein_coding | 1/10 | chr7 | TogoVar | ||||||
CEP43_chr6_166994397_167057718 | 167009844 | GAAAAATA | G | intron_variant | MODIFIER | HG02109.hp2 HG02572.hp1 HG02895.hp2 others(2): Show |
a0005 | a0005c0005 | a0005c0005t0019a0005c0005t0074a0005c0005t0088 | a0005c0005t0019g0040a0005c0005t0019g0213a0005c0005t0074g0212others(1): Show | 5 | 376 | 0.0133 | -7 | c.439 others(22): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP43_chr6_166994397_167057718 | 167050781 | GAAAAAAA | G | 3_prime_UTR_variant | MODIFIER | HG00408.hp1 HG00597.hp1 HG00621.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0010a0001c0001t0030others(11): Show | a0001c0001t0008g0018a0001c0001t0008g0033a0001c0001t0008g0188others(20): Show | 27 | 376 | 0.0718 | -7 | c.*10 others(20): Show |
CEP43 | ENSG00000213066.14 | transcript | ENST00000366847.9 | protein_coding | 13/13 | 10820 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
CEP57L1_chr6_109090507_109179418 | 109129822 | TAATTTAA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(39): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0005others(1): Show | a0001c0001t0008a0002c0002t0003a0002c0002t0025others(23): Show | a0001c0001t0008g0113a0002c0002t0003g0001a0002c0002t0003g0013others(36): Show | 42 | 228 | 0.1842 | -7 | c.-3- others(24): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CEP57L1_chr6_109090507_109179418 | 109173934 | TAAAAAAA | T | 3_prime_UTR_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(40): Show |
a0001a0002a0003others(1): Show | a0001c0007a0002c0002a0003c0005others(1): Show | a0001c0007t0029a0002c0002t0003a0002c0002t0025others(24): Show | a0001c0007t0029g0005a0002c0002t0003g0001a0002c0002t0003g0013others(37): Show | 43 | 228 | 0.1886 | -7 | c.*10 others(20): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 11/11 | 10974 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
CEP57L1_chr6_109090507_109179418 | 109178673 | CAAAAAAA | C | downstream_gene_variant | MODIFIER | HG02486.hp2 HG02559.hp1 HG02818.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0016a0001c0001t0056a0002c0002t0078others(2): Show | a0001c0001t0016g0056a0001c0001t0056g0202a0002c0002t0078g0205others(2): Show | 5 | 228 | 0.0219 | -7 | c.*15 others(20): Show |
CEP57L1 | ENSG00000183137.16 | transcript | ENST00000517392.6 | protein_coding | 4256 | chr6 | TogoVar | ||||||
CEP68_chr2_65051416_65092004 | 65058087 | GTAGCTGT | G | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp1 HG00544.hp1 others(54): Show |
a0001a0002a0011others(1): Show | a0001c0001a0002c0002a0002c0010others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0026others(4): Show | a0001c0001t0001g0070a0001c0001t0001g0071a0002c0002t0002g0001others(33): Show | 57 | 360 | 0.1583 | -7 | c.-47 others(24): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CEP68_chr2_65051416_65092004 | 65066744 | AAATATAT | A | intron_variant | MODIFIER | HG01167.hp2 HG02257.hp2 HG02451.hp2 others(17): Show |
a0001a0004 | a0001c0001a0004c0004a0004c0011 | a0001c0001t0001a0004c0004t0004a0004c0004t0011others(2): Show | a0001c0001t0001g0142a0004c0004t0004g0006a0004c0004t0004g0019others(11): Show | 20 | 360 | 0.0556 | -7 | c.-46 others(24): Show |
CEP68 | ENSG00000011523.15 | transcript | ENST00000377990.7 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CEP78_chr9_78231075_78284690 | 78252495 | GATATAAC | G | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG01261.hp2 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0092 | a0001c0001t0015g0225a0001c0001t0015g0242a0001c0001t0092g0236 | 3 | 340 | 0.0088 | -7 | c.120 others(24): Show |
CEP78 | ENSG00000148019.14 | transcript | ENST00000643273.2 | protein_coding | 9/16 | chr9 | TogoVar | ||||||
CEP83_chr12_94302698_94464867 | 94380084 | AAAAAAAC | A | intron_variant | MODIFIER | NA18940.hp2 NA18972.hp1 NA18989.hp2 others(6): Show |
a0001 | a0001c0003 | a0001c0003t0001a0001c0003t0002 | a0001c0003t0001g0094a0001c0003t0001g0125a0001c0003t0002g0121others(6): Show | 9 | 364 | 0.0247 | -7 | c.550 others(24): Show |
CEP83 | ENSG00000173588.16 | transcript | ENST00000397809.10 | protein_coding | 6/16 | chr12 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118519572 | GTGTGTGT | G | intron_variant | MODIFIER | HG00621.hp1 HG01884.hp2 HG02155.hp2 others(7): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0008a0005c0005t0015 | a0001c0001t0001g0055a0005c0005t0008g0250a0005c0005t0008g0251others(7): Show | 10 | 302 | 0.0331 | -7 | c.113 others(26): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118569341 | CAAAAAAA | C | intron_variant | MODIFIER | HG00621.hp1 HG01255.hp2 HG01261.hp2 others(9): Show |
a0002a0004a0005 | a0002c0002a0004c0004a0005c0005 | a0002c0002t0002a0004c0004t0006a0005c0005t0008others(1): Show | a0002c0002t0002g0177a0004c0004t0006g0041a0004c0004t0006g0042others(9): Show | 12 | 302 | 0.0397 | -7 | c.233 others(24): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600294 | CCTGGGGG | C | intron_variant | MODIFIER | HG01167.hp1 HG01358.hp2 HG01952.hp2 others(5): Show |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0001a0005c0005t0008 | a0001c0001t0001g0118a0001c0001t0001g0126a0001c0001t0001g0134others(5): Show | 8 | 302 | 0.0265 | -7 | c.232 others(26): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118600301 | GTGTGTGT | G | intron_variant | MODIFIER | HG00423.hp2 HG02896.hp2 HG03516.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0002 | a0001c0001t0004g0098a0002c0002t0002g0174a0002c0002t0002g0189others(1): Show | 4 | 302 | 0.0133 | -7 | c.232 others(26): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP85L_chr6_118455772_118656591 | 118612676 | CGGGGGGG | C | intron_variant | MODIFIER | HG00323.hp1 HG00408.hp2 HG00544.hp2 others(72): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0026others(8): Show | a0001c0001t0001g0108a0001c0001t0001g0119a0001c0001t0001g0120others(72): Show | 75 | 302 | 0.2483 | -7 | c.232 others(26): Show |
CEP85L | ENSG00000111860.14 | transcript | ENST00000368491.8 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32913299 | ATATATAT | A | intron_variant | MODIFIER | HG02622.hp2 HG02717.hp1 HG03453.hp2 others(2): Show |
a0004a0006 | a0004c0006a0006c0009 | a0004c0006t0011a0004c0006t0026a0006c0009t0011 | a0004c0006t0011g0143a0004c0006t0026g0144a0006c0009t0011g0123others(2): Show | 5 | 386 | 0.0130 | -7 | c.156 others(26): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | ||||||
CEP89_chr19_32870925_32976958 | 32913303 | ATATTTTT | A | intron_variant | MODIFIER | HG00609.hp1 HG01106.hp1 HG01361.hp1 others(18): Show |
a0004a0009 | a0004c0006a0009c0023 | a0004c0006t0007a0004c0006t0009a0004c0006t0027others(2): Show | a0004c0006t0007g0086a0004c0006t0007g0128a0004c0006t0007g0129others(18): Show | 21 | 386 | 0.0544 | -7 | c.156 others(26): Show |
CEP89 | ENSG00000121289.18 | transcript | ENST00000305768.10 | protein_coding | 14/18 | chr19 | TogoVar | ||||||
CEP95_chr17_64501977_64542946 | 64542869 | GTACACTA | G | downstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp1 HG01891.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004a0001c0001t0002g0015a0001c0001t0002g0040others(6): Show | 19 | 248 | 0.0766 | -7 | c.*50 others(18): Show |
CEP95 | ENSG00000258890.8 | transcript | ENST00000556440.7 | protein_coding | 4924 | chr17 | TogoVar |