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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CFH_chr1_196647043_196752504 | 196681470 | T | TCACACA | intron_variant | MODIFIER | HG03453.hp1 HG03471.hp1 HG03486.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0010a0002c0002 | a0001c0001t0001a0001c0010t0001a0002c0002t0001 | a0001c0001t0001g0207a0001c0010t0001g0264a0001c0010t0001g0276others(2): Show | 5 | 308 | 0.0162 | 6 | c.790 others(23): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196693955 | G | GGTGTGT | intron_variant | MODIFIER | HG02145.hp2 HG02148.hp2 HG02280.hp1 others(22): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0008a0002c0002others(3): Show | a0001c0001t0001a0001c0008t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0007a0001c0001t0001g0039a0001c0001t0001g0159others(22): Show | 25 | 308 | 0.0812 | 6 | c.133 others(25): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196712608 | G | GTTATTA | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02622.hp2 others(7): Show |
a0001a0011a0012others(1): Show | a0001c0001a0011c0012a0012c0011others(1): Show | a0001c0001t0001a0011c0012t0001a0012c0011t0001others(1): Show | a0001c0001t0001g0268a0001c0001t0001g0269a0001c0001t0001g0270others(7): Show | 10 | 308 | 0.0325 | 6 | c.133 others(25): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196714635 | G | GTATATA | intron_variant | MODIFIER | HG01081.hp1 HG03654.hp1 HG04228.hp1 others(3): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0181a0003c0003t0001g0062a0003c0003t0001g0075others(3): Show | 6 | 308 | 0.0195 | 6 | c.151 others(23): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196714635 | G | GTGTATA | intron_variant | MODIFIER | HG01192.hp2 HG02523.hp2 HG02572.hp2 others(7): Show |
a0001a0003a0004others(4): Show | a0001c0001a0003c0003a0004c0004others(4): Show | a0001c0001t0001a0003c0003t0001a0004c0004t0001others(4): Show | a0001c0001t0001g0279a0003c0003t0001g0096a0004c0004t0001g0135others(6): Show | 10 | 308 | 0.0325 | 6 | c.151 others(23): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196714668 | T | TATAGAG | intron_variant | MODIFIER | HG01168.hp1 NA18995.hp2 NA19009.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0202a0001c0001t0001g0218a0001c0001t0001g0233others(1): Show | 4 | 308 | 0.0130 | 6 | c.151 others(23): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196714701 | A | AGAGAGG | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp2 HG00609.hp2 others(21): Show |
a0001a0004a0010others(1): Show | a0001c0001a0004c0004a0004c0024others(2): Show | a0001c0001t0001a0004c0004t0001a0004c0024t0001others(2): Show | a0001c0001t0001g0016a0001c0001t0001g0042a0001c0001t0001g0044others(21): Show | 24 | 308 | 0.0779 | 6 | c.151 others(23): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFH_chr1_196647043_196752504 | 196749222 | C | CAGTAAT | downstream_gene_variant | MODIFIER | HG02109.hp1 HG02145.hp2 HG02896.hp2 others(2): Show |
a0007 | a0007c0007 | a0007c0007t0002 | a0007c0007t0002g0001a0007c0007t0002g0022a0007c0007t0002g0024others(1): Show | 5 | 308 | 0.0162 | 6 | c.*19 others(17): Show |
CFH | ENSG00000000971.17 | transcript | ENST00000367429.9 | protein_coding | 1719 | chr1 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109752992 | T | TTATATA | intron_variant | MODIFIER | HG00639.hp2 HG01256.hp1 HG03017.hp2 others(15): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0160a0001c0001t0001g0163a0001c0001t0001g0165others(15): Show | 18 | 354 | 0.0509 | 6 | c.905 others(21): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109753612 | T | TGTATAA | intron_variant | MODIFIER | HG00639.hp2 HG01070.hp2 HG01256.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0001 | a0001c0001t0001g0015a0001c0001t0001g0167a0001c0001t0001g0184others(10): Show | 13 | 354 | 0.0367 | 6 | c.905 others(23): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 7/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109762189 | T | TAAAAAA | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp1 HG00609.hp2 others(47): Show |
a0001a0003a0009 | a0001c0002a0001c0008a0003c0004others(1): Show | a0001c0002t0001a0001c0002t0002a0001c0002t0003others(4): Show | a0001c0002t0001g0010a0001c0002t0001g0011a0001c0002t0001g0043others(47): Show | 50 | 354 | 0.1412 | 6 | c.483 others(21): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 3/12 | chr4 | TogoVar | ||||||
CFI_chr4_109735695_109806999 | 109800056 | T | TTTTTGG | intron_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01261.hp1 others(26): Show |
a0001a0003a0010 | a0001c0001a0001c0002a0003c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0146a0001c0001t0001g0277a0001c0001t0001g0298others(26): Show | 29 | 354 | 0.0819 | 6 | c.57+ others(21): Show |
CFI | ENSG00000205403.15 | transcript | ENST00000394634.7 | protein_coding | 1/12 | chr4 | TogoVar | ||||||
CFL2_chr14_34704113_34719593 | 34709787 | C | CAAAAAA | 3_prime_UTR_variant | MODIFIER | HG01069.hp2 HG01106.hp1 HG01891.hp2 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0017a0001c0001t0018others(7): Show | a0001c0001t0013g0015a0001c0001t0017g0024a0001c0001t0017g0062others(8): Show | 21 | 431 | 0.0487 | 6 | c.*30 others(17): Show |
CFL2 | ENSG00000165410.15 | transcript | ENST00000298159.11 | protein_coding | 4/4 | 3077 | chr14 | TogoVar | |||||
CFLAR_chr2_201111164_201181687 | 201114013 | G | GATATAT | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00609.hp1 |
a0001 | a0001c0001 | a0001c0001t0030a0001c0001t0102 | a0001c0001t0030g0074a0001c0001t0102g0015 | 2 | 234 | 0.0086 | 6 | c.-26 others(17): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 2150 | chr2 | TogoVar | ||||||
CFLAR_chr2_201111164_201181687 | 201158849 | C | CATTATT | intron_variant | MODIFIER | HG00140.hp1 HG00642.hp2 HG01069.hp2 others(28): Show |
a0001 | a0001c0002 | a0001c0002t0003a0001c0002t0007a0001c0002t0008others(22): Show | a0001c0002t0003g0114a0001c0002t0007g0038a0001c0002t0008g0023others(27): Show | 31 | 234 | 0.1325 | 6 | c.794 others(23): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFLAR_chr2_201111164_201181687 | 201158852 | C | CATTATT | intron_variant | MODIFIER | HG01069.hp1 HG01261.hp2 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0089a0001c0001t0090 | a0001c0001t0002g0151a0001c0001t0089g0127a0001c0001t0090g0124 | 3 | 234 | 0.0128 | 6 | c.794 others(23): Show |
CFLAR | ENSG00000003402.21 | transcript | ENST00000309955.8 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117490312 | T | TACACAC | intron_variant | MODIFIER | HG01192.hp1 HG01346.hp1 HG02056.hp1 others(15): Show |
a0001a0002a0014others(1): Show | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0003others(8): Show | a0001c0001t0001g0039a0001c0001t0002g0063a0001c0001t0002g0065others(15): Show | 18 | 202 | 0.0891 | 6 | c.53+ others(23): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117499429 | C | CTGTGTG | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp2 others(49): Show |
a0001a0004a0008others(3): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(15): Show | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(49): Show | 52 | 202 | 0.2574 | 6 | c.54- others(21): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 1/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117566248 | A | AACACAC | intron_variant | MODIFIER | HG01433.hp2 HG01496.hp1 HG01516.hp2 others(9): Show |
a0001a0002 | a0001c0001a0001c0004a0001c0005others(3): Show | a0001c0001t0002a0001c0004t0001a0001c0004t0003others(4): Show | a0001c0001t0002g0003a0001c0001t0002g0195a0001c0004t0001g0010others(9): Show | 12 | 202 | 0.0594 | 6 | c.158 others(25): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117573036 | T | TTCTCTC | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00609.hp2 others(58): Show |
a0001a0004a0008others(4): Show | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(14): Show | a0001c0001t0001g0039a0001c0001t0001g0053a0001c0001t0001g0056others(58): Show | 61 | 202 | 0.3020 | 6 | c.158 others(27): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 11/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117612019 | A | ATATATG | intron_variant | MODIFIER | HG02129.hp2 HG02895.hp2 HG02896.hp2 others(6): Show |
a0001a0008 | a0001c0001a0008c0014 | a0001c0001t0002a0001c0001t0004a0001c0001t0005others(1): Show | a0001c0001t0002g0020a0001c0001t0002g0029a0001c0001t0002g0036others(6): Show | 9 | 202 | 0.0446 | 6 | c.336 others(23): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117612023 | G | GTATATA | intron_variant | MODIFIER | HG02027.hp2 HG02056.hp1 HG02056.hp2 others(5): Show |
a0001a0002a0014 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(2): Show | a0001c0001t0001g0068a0001c0001t0002g0045a0001c0004t0001g0010others(5): Show | 8 | 202 | 0.0396 | 6 | c.336 others(23): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117612023 | G | GTGTATA | intron_variant | MODIFIER | HG02145.hp2 NA19090.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0007a0001c0005t0003 | a0001c0001t0007g0060a0001c0005t0003g0194 | 2 | 202 | 0.0099 | 6 | c.336 others(23): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CFTR_chr7_117475025_117673665 | 117612234 | T | TACACAC | intron_variant | MODIFIER | HG02258.hp1 HG02559.hp1 HG02723.hp2 others(9): Show |
a0001 | a0001c0001a0001c0006a0001c0019 | a0001c0001t0002a0001c0001t0004a0001c0006t0003others(1): Show | a0001c0001t0002g0195a0001c0001t0004g0009a0001c0001t0004g0018others(9): Show | 12 | 202 | 0.0594 | 6 | c.336 others(23): Show |
CFTR | ENSG00000001626.18 | transcript | ENST00000003084.11 | protein_coding | 20/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CGAS_chr6_73418711_73457297 | 73449476 | A | AACACAC | intron_variant | MODIFIER | HG01099.hp1 HG01884.hp2 HG01891.hp2 others(7): Show |
a0001a0004a0005others(1): Show | a0001c0002a0001c0003a0004c0010others(2): Show | a0001c0002t0019a0001c0002t0053a0001c0002t0060others(5): Show | a0001c0002t0019g0277a0001c0002t0019g0278a0001c0002t0053g0125others(7): Show | 10 | 410 | 0.0244 | 6 | c.657 others(23): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73450039 | A | AAGAGAG | intron_variant | MODIFIER | HG00438.hp1 HG00597.hp2 HG00621.hp1 others(13): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0007a0001c0003t0004a0001c0003t0010others(2): Show | a0001c0002t0007g0015a0001c0002t0007g0060a0001c0003t0004g0056others(10): Show | 16 | 410 | 0.0390 | 6 | c.657 others(23): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73453564 | C | CTTTTTT | upstream_gene_variant | MODIFIER | HG02165.hp1 HG03041.hp1 NA18957.hp1 others(4): Show |
a0001 | a0001c0003a0001c0009a0001c0019 | a0001c0003t0004a0001c0003t0015a0001c0009t0038others(1): Show | a0001c0003t0004g0036a0001c0003t0004g0038a0001c0003t0004g0041others(4): Show | 7 | 410 | 0.0171 | 6 | c.-13 others(17): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1268 | chr6 | TogoVar | ||||||
CGAS_chr6_73418711_73457297 | 73453568 | C | CTTTTTT | upstream_gene_variant | MODIFIER | HG00544.hp2 HG00639.hp2 HG01255.hp2 others(32): Show |
a0001a0003a0004 | a0001c0002a0001c0003a0001c0006others(2): Show | a0001c0002t0002a0001c0002t0006a0001c0002t0008others(10): Show | a0001c0002t0002g0306a0001c0002t0002g0322a0001c0002t0006g0010others(29): Show | 35 | 410 | 0.0854 | 6 | c.-13 others(17): Show |
CGAS | ENSG00000164430.17 | transcript | ENST00000370315.4 | protein_coding | 1272 | chr6 | TogoVar | ||||||
CGB1_chr19_49030569_49041895 | 49031300 | C | CTCGTTG | downstream_gene_variant | MODIFIER | HG02559.hp2 HG02647.hp2 HG02895.hp2 others(3): Show |
a0000 | a0000c0003a0000c0004 | a0000c0003t0004a0000c0004t0001 | a0000c0003t0004g0008a0000c0004t0001g0010a0000c0004t0001g0023 | 6 | 376 | 0.0160 | 6 | c.*43 others(17): Show |
CGB1 | ENSG00000267631.5 | transcript | ENST00000301407.8 | protein_coding | 4268 | chr19 | TogoVar | ||||||
CGB1_chr19_49030569_49041895 | 49035133 | A | AATTTTT | downstream_gene_variant | MODIFIER | HG01433.hp1 HG01884.hp1 HG02970.hp1 others(1): Show |
a0000 | a0000c0003a0000c0010 | a0000c0003t0001a0000c0010t0001 | a0000c0003t0001g0015a0000c0010t0001g0018 | 4 | 376 | 0.0106 | 6 | c.*47 others(15): Show |
CGB1 | ENSG00000267631.5 | transcript | ENST00000301407.8 | protein_coding | 435 | chr19 | TogoVar | ||||||
CGB1_chr19_49030569_49041895 | 49035137 | A | ATATTAT | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00738.hp2 HG01070.hp2 others(53): Show |
a0000a0001a0002others(1): Show | a0000c0003a0000c0010a0001c0001others(5): Show | a0000c0003t0004a0000c0010t0001a0001c0001t0001others(8): Show | a0000c0003t0004g0008a0000c0010t0001g0018a0001c0001t0001g0002others(13): Show | 56 | 376 | 0.1489 | 6 | c.*47 others(15): Show |
CGB1 | ENSG00000267631.5 | transcript | ENST00000301407.8 | protein_coding | 431 | chr19 | TogoVar | ||||||
CGB3_chr19_49017869_49029333 | 49021572 | A | AGTGTGT | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00558.hp2 HG00673.hp1 others(71): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0006a0001c0001t0016others(7): Show | a0001c0001t0003g0003a0001c0001t0006g0043a0001c0001t0016g0032others(10): Show | 74 | 391 | 0.1893 | 6 | c.*13 others(17): Show |
CGB3 | ENSG00000104827.12 | transcript | ENST00000357383.4 | protein_coding | 1296 | chr19 | TogoVar | ||||||
CGB7_chr19_49049274_49062749 | 49060036 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00733.hp2 HG01258.hp2 HG01515.hp2 others(32): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(6): Show | a0001c0001t0001g0001a0001c0001t0002g0002a0001c0001t0007g0009others(8): Show | 35 | 422 | 0.0829 | 6 | c.-39 others(17): Show |
CGB7 | ENSG00000196337.14 | transcript | ENST00000684222.1 | protein_coding | 2288 | chr19 | TogoVar | ||||||
CGGBP1_chr3_88046950_88064005 | 88050344 | A | ATTTTTT | downstream_gene_variant | MODIFIER | HG01106.hp2 HG01515.hp1 HG02258.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004 | a0001c0001t0001g0001a0001c0001t0001g0045a0001c0001t0003g0002others(2): Show | 11 | 358 | 0.0307 | 6 | c.*51 others(17): Show |
CGGBP1 | ENSG00000163320.12 | transcript | ENST00000482016.6 | protein_coding | 1605 | chr3 | TogoVar | ||||||
CGNL1_chr15_57371505_57555717 | 57409037 | T | TCACACA | intron_variant | MODIFIER | HG00621.hp1 HG00642.hp1 HG02258.hp1 others(17): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0011a0002c0002others(6): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0019others(11): Show | a0001c0001t0002g0255a0001c0001t0002g0267a0001c0001t0004g0063others(17): Show | 20 | 294 | 0.0680 | 6 | c.-15 others(25): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57414661 | A | AAACAAC | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(232): Show |
a0001a0002a0003others(22): Show | a0001c0001a0001c0005a0001c0011others(31): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(78): Show | a0001c0001t0001g0044a0001c0001t0001g0049a0001c0001t0001g0059others(231): Show | 235 | 294 | 0.7993 | 6 | c.-15 others(25): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57422108 | T | TAAAACA | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(289): Show |
a0001a0002a0003others(25): Show | a0001c0001a0001c0005a0001c0011others(37): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(88): Show | a0001c0001t0001g0044a0001c0001t0001g0049a0001c0001t0001g0059others(288): Show | 292 | 294 | 0.9932 | 6 | c.-15 others(25): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57437619 | C | CAAAAAA | intron_variant | MODIFIER | HG00280.hp1 HG00733.hp2 HG00738.hp1 others(17): Show |
a0001a0002a0004others(4): Show | a0001c0001a0002c0002a0004c0004others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(10): Show | a0001c0001t0001g0073a0001c0001t0001g0132a0001c0001t0001g0233others(17): Show | 20 | 294 | 0.0680 | 6 | c.-15 others(21): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57447805 | C | CGTGTGT | intron_variant | MODIFIER | HG02809.hp1 HG03579.hp2 NA21309.hp1 |
a0008a0015a0018 | a0008c0010a0015c0035a0018c0034 | a0008c0010t0028a0015c0035t0012a0018c0034t0004 | a0008c0010t0028g0052a0015c0035t0012g0284a0018c0034t0004g0035 | 3 | 294 | 0.0102 | 6 | c.180 others(25): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57468559 | C | CGTGTGT | intron_variant | MODIFIER | HG02258.hp2 HG02818.hp2 HG03209.hp2 others(2): Show |
a0001a0014a0018others(1): Show | a0001c0001a0014c0016a0018c0034others(1): Show | a0001c0001t0004a0014c0016t0004a0018c0034t0004others(1): Show | a0001c0001t0004g0029a0001c0001t0004g0120a0014c0016t0004g0009others(2): Show | 5 | 294 | 0.0170 | 6 | c.240 others(25): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57470256 | C | CTTTTTT | intron_variant | MODIFIER | HG01070.hp1 HG02258.hp2 HG02572.hp1 others(8): Show |
a0001a0002a0012others(3): Show | a0001c0001a0002c0002a0012c0019others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0011others(5): Show | a0001c0001t0001g0188a0001c0001t0004g0029a0001c0001t0004g0047others(8): Show | 11 | 294 | 0.0374 | 6 | c.240 others(25): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57498245 | G | GTTTTTT | intron_variant | MODIFIER | HG00438.hp2 HG01346.hp2 HG01358.hp2 others(6): Show |
a0001a0004a0005others(1): Show | a0001c0001a0001c0005a0004c0004others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0005t0002others(4): Show | a0001c0001t0001g0108a0001c0001t0001g0131a0001c0001t0001g0185others(6): Show | 9 | 294 | 0.0306 | 6 | c.240 others(27): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57513253 | G | GGTGTGT | intron_variant | MODIFIER | HG00140.hp2 HG01123.hp1 HG01516.hp1 others(10): Show |
a0001a0003a0004others(3): Show | a0001c0001a0001c0005a0003c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0002others(8): Show | a0001c0001t0001g0197a0001c0001t0002g0128a0001c0001t0002g0182others(10): Show | 13 | 294 | 0.0442 | 6 | c.240 others(25): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGNL1_chr15_57371505_57555717 | 57529559 | A | AACACAC | intron_variant | MODIFIER | HG01109.hp1 HG02040.hp2 HG02071.hp1 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0005a0001c0039others(4): Show | a0001c0001t0001a0001c0001t0010a0001c0005t0001others(5): Show | a0001c0001t0001g0079a0001c0001t0010g0262a0001c0005t0001g0245others(8): Show | 11 | 294 | 0.0374 | 6 | c.320 others(23): Show |
CGNL1 | ENSG00000128849.11 | transcript | ENST00000281282.6 | protein_coding | 13/18 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CGN_chr1_151506387_151543692 | 151508000 | C | CATTATT | upstream_gene_variant | MODIFIER | HG02486.hp1 HG02615.hp1 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0034 | a0001c0001t0002g0172a0001c0001t0002g0173a0001c0001t0009g0175others(1): Show | 4 | 382 | 0.0105 | 6 | c.-35 others(17): Show |
CGN | ENSG00000143375.15 | transcript | ENST00000271636.12 | protein_coding | 3386 | chr1 | TogoVar | ||||||
CGN_chr1_151506387_151543692 | 151511435 | T | TGCCCGA | 5_prime_UTR_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(302): Show |
a0001a0002a0003others(21): Show | a0001c0001a0001c0004a0001c0007others(30): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(44): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(229): Show | 305 | 382 | 0.7984 | 6 | c.-52 others(13): Show |
CGN | ENSG00000143375.15 | transcript | ENST00000271636.12 | protein_coding | 1/21 | 7036 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||
CGN_chr1_151506387_151543692 | 151527808 | T | TACACAC | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp1 HG00597.hp2 others(39): Show |
a0001a0003a0005others(2): Show | a0001c0001a0001c0025a0003c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(8): Show | a0001c0001t0001g0007a0001c0001t0001g0042a0001c0001t0001g0049others(30): Show | 42 | 382 | 0.1100 | 6 | c.189 others(23): Show |
CGN | ENSG00000143375.15 | transcript | ENST00000271636.12 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CGN_chr1_151506387_151543692 | 151543327 | A | ATGTGTG | downstream_gene_variant | MODIFIER | HG00621.hp1 HG00735.hp1 HG00735.hp2 others(8): Show |
a0001a0007 | a0001c0001a0007c0010 | a0001c0001t0001a0001c0001t0003a0007c0010t0001 | a0001c0001t0001g0014a0001c0001t0001g0062a0001c0001t0001g0077others(5): Show | 11 | 382 | 0.0288 | 6 | c.*59 others(17): Show |
CGN | ENSG00000143375.15 | transcript | ENST00000271636.12 | protein_coding | 4636 | chr1 | TogoVar | ||||||
CGREF1_chr2_27095594_27124128 | 27116871 | T | TTCTCTC | intron_variant | MODIFIER | HG00099.hp2 HG02738.hp2 HG03654.hp1 others(5): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0002t0002a0002c0003t0003others(1): Show | a0001c0001t0001g0172a0001c0001t0001g0217a0001c0001t0001g0219others(5): Show | 8 | 352 | 0.0227 | 6 | c.-12 others(23): Show |
CGREF1 | ENSG00000138028.17 | transcript | ENST00000402394.6 | protein_coding | 1/5 | chr2 | TogoVar | ||||||
CGRRF1_chr14_54504906_54544292 | 54506695 | C | CAAAAAA | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00558.hp2 HG01256.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(2): Show | a0001c0001t0001g0003a0001c0001t0001g0009a0001c0001t0001g0015others(39): Show | 51 | 338 | 0.1509 | 6 | c.-32 others(17): Show |
CGRRF1 | ENSG00000100532.13 | transcript | ENST00000216420.12 | protein_coding | 3210 | chr14 | TogoVar |