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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CNGB3_chr8_86569179_86748634 | 86708563 | ATTT | A | intron_variant | MODIFIER | HG00733.hp2 HG01070.hp2 HG01167.hp1 others(13): Show |
a0001a0002a0006others(3): Show | a0001c0001a0002c0002a0002c0021others(4): Show | a0001c0001t0001a0001c0001t0005a0002c0002t0010others(5): Show | a0001c0001t0001g0196a0001c0001t0001g0197a0001c0001t0001g0198others(13): Show | 16 | 288 | 0.0556 | -3 | c.338 others(22): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 3/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86712755 | ATTT | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(102): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0041others(102): Show | 105 | 288 | 0.3646 | -3 | c.338 others(22): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 3/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86717561 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(99): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0002c0021others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(9): Show | a0001c0001t0001g0038a0001c0001t0001g0040a0001c0001t0001g0041others(99): Show | 102 | 288 | 0.3542 | -3 | c.338 others(20): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 3/17 | chr8 | TogoVar | ||||||
CNGB3_chr8_86569179_86748634 | 86735042 | GTTT | G | intron_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02074.hp2 others(12): Show |
a0001a0002a0006others(1): Show | a0001c0001a0001c0016a0002c0002others(2): Show | a0001c0001t0001a0001c0016t0001a0002c0002t0001others(3): Show | a0001c0001t0001g0211a0001c0016t0001g0189a0002c0002t0001g0178others(12): Show | 15 | 288 | 0.0521 | -3 | c.211 others(20): Show |
CNGB3 | ENSG00000170289.13 | transcript | ENST00000320005.6 | protein_coding | 2/17 | chr8 | TogoVar | ||||||
CNIH2_chr11_66273175_66289206 | 66274288 | TAGC | T | upstream_gene_variant | MODIFIER | HG01106.hp1 HG01109.hp2 HG02572.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017a0001c0002t0001g0019 | 6 | 420 | 0.0143 | -3 | c.-41 others(14): Show |
CNIH2 | ENSG00000174871.11 | transcript | ENST00000311445.7 | protein_coding | 3886 | chr11 | TogoVar | ||||||
CNIH2_chr11_66273175_66289206 | 66276271 | CCTT | C | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00438.hp2 others(88): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0005others(11): Show | 91 | 420 | 0.2167 | -3 | c.-21 others(14): Show |
CNIH2 | ENSG00000174871.11 | transcript | ENST00000311445.7 | protein_coding | 1903 | chr11 | TogoVar | ||||||
CNIH2_chr11_66273175_66289206 | 66276586 | CCTT | C | upstream_gene_variant | MODIFIER | HG02109.hp1 HG02258.hp2 HG02647.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011a0001c0001t0001g0014 | 3 | 420 | 0.0071 | -3 | c.-18 others(14): Show |
CNIH2 | ENSG00000174871.11 | transcript | ENST00000311445.7 | protein_coding | 1588 | chr11 | TogoVar | ||||||
CNIH3_chr1_224611317_224745554 | 224674272 | GTTT | G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00597.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(5): Show | a0001c0001t0001g0004a0001c0001t0001g0007a0001c0001t0001g0037others(34): Show | 39 | 358 | 0.1089 | -3 | c.82- others(18): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNIH3_chr1_224611317_224745554 | 224705856 | TTTC | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(42): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0040a0001c0001t0001g0047others(40): Show | 45 | 358 | 0.1257 | -3 | c.198 others(22): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNIH3_chr1_224611317_224745554 | 224706958 | CTTT | C | intron_variant | MODIFIER | HG01081.hp2 HG01167.hp2 HG01952.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0210a0001c0001t0001g0221a0001c0001t0002g0176others(4): Show | 7 | 358 | 0.0196 | -3 | c.198 others(22): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNIH3_chr1_224611317_224745554 | 224725215 | AAAT | A | intron_variant | MODIFIER | NA18949.hp1 NA18960.hp2 NA19058.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0069a0001c0001t0001g0070others(1): Show | 4 | 358 | 0.0112 | -3 | c.199 others(20): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNIH3_chr1_224611317_224745554 | 224727278 | AAAC | A | intron_variant | MODIFIER | HG01106.hp1 NA18959.hp2 NA18973.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0030 | a0001c0001t0001g0325a0001c0001t0005g0087a0001c0001t0005g0088others(5): Show | 8 | 358 | 0.0224 | -3 | c.199 others(20): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNIH4_chr1_224351879_224384452 | 224362487 | CTTT | C | intron_variant | MODIFIER | HG00733.hp2 HG01109.hp1 HG01109.hp2 others(44): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(7): Show | a0001c0001t0003g0010a0001c0001t0003g0070a0001c0001t0004g0016others(23): Show | 47 | 324 | 0.1451 | -3 | c.138 others(20): Show |
CNIH4 | ENSG00000143771.12 | transcript | ENST00000465271.6 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CNIH4_chr1_224351879_224384452 | 224381580 | AAAT | A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(315): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(54): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0005others(164): Show | 318 | 324 | 0.9815 | -3 | c.*57 others(14): Show |
CNIH4 | ENSG00000143771.12 | transcript | ENST00000465271.6 | protein_coding | 2129 | chr1 | TogoVar | ||||||
CNKSR2_chrX_21369418_21659689 | 21374594 | GGCA | G | 5_prime_UTR_variant | MODIFIER | HG00140.hp1 HG00621.hp1 HG00735.hp1 others(36): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0008a0001c0001t0009others(6): Show | a0001c0001t0002g0003a0001c0001t0002g0004a0001c0001t0002g0019others(36): Show | 39 | 163 | 0.2393 | -3 | c.-26 others(12): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 1/22 | 266 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||
CNKSR2_chrX_21369418_21659689 | 21380443 | CTTT | C | intron_variant | MODIFIER | HG03491.hp2 HG03654.hp1 |
a0001 | a0001c0001 | a0001c0001t0023a0001c0001t0043 | a0001c0001t0023g0006a0001c0001t0043g0007 | 2 | 163 | 0.0123 | -3 | c.64+ others(18): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21426730 | TCTC | T | intron_variant | MODIFIER | NA18948.hp1 NA18982.hp1 NA18988.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062a0001c0001t0001g0075a0001c0001t0001g0076 | 3 | 163 | 0.0184 | -3 | c.228 others(16): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21490104 | ATTT | A | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0013 | 1 | 163 | 0.0061 | -3 | c.562 others(18): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 5/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21495783 | CAAA | C | intron_variant | MODIFIER | HG01433.hp1 HG02258.hp1 HG02572.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0060a0001c0001t0002g0028a0001c0001t0002g0112others(6): Show | 9 | 163 | 0.0552 | -3 | c.682 others(20): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 6/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21526786 | ATTG | A | intron_variant | MODIFIER | HG01071.hp2 HG02615.hp1 HG02965.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0003a0001c0001t0017a0001c0003t0014others(1): Show | a0001c0001t0003g0031a0001c0001t0017g0018a0001c0003t0014g0147others(2): Show | 5 | 163 | 0.0307 | -3 | c.958 others(16): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 9/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21539622 | ACTT | A | intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0020 | a0001c0001t0020g0141 | 1 | 163 | 0.0061 | -3 | c.130 others(22): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21561182 | TAAA | T | intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0162 | 1 | 163 | 0.0061 | -3 | c.130 others(20): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 11/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21562219 | ATGG | A | intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 163 | 0.0061 | -3 | c.139 others(20): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 12/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21567792 | TGTG | T | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0134 | 1 | 163 | 0.0061 | -3 | c.160 others(22): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21569210 | GTTA | G | intron_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0007 | a0001c0007t0036 | a0001c0007t0036g0026 | 1 | 163 | 0.0061 | -3 | c.160 others(22): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 13/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21626244 | TAAA | T | intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0011 | 1 | 163 | 0.0061 | -3 | c.269 others(24): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21630469 | TACA | T | intron_variant | MODIFIER | NA18967.hp1 NA18994.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0035 | a0001c0001t0003g0070a0001c0001t0035g0054 | 2 | 163 | 0.0123 | -3 | c.269 others(24): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21634075 | TTTC | T | intron_variant | MODIFIER | HG01106.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0019 | 1 | 163 | 0.0061 | -3 | c.269 others(24): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21648791 | TTTC | T | intron_variant | MODIFIER | NA18977.hp1 | a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0041 | 1 | 163 | 0.0061 | -3 | c.269 others(18): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 20/21 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21652894 | ACAT | A | 3_prime_UTR_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0002 | 1 | 163 | 0.0061 | -3 | c.*37 others(12): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 22/22 | 374 | chrX | TogoVar | |||||
CNKSR2_chrX_21369418_21659689 | 21656801 | ACTC | A | downstream_gene_variant | MODIFIER | NA18986.hp1 NA19055.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0039 | a0001c0001t0008g0143a0001c0001t0039g0144 | 2 | 163 | 0.0123 | -3 | c.*42 others(14): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 2113 | chrX | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154388006 | TTTC | T | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00438.hp1 HG00438.hp2 others(108): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0006others(67): Show | a0001c0001t0002g0078a0001c0001t0002g0131a0001c0001t0002g0136others(108): Show | 111 | 342 | 0.3246 | -3 | c.*18 others(16): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 13/13 | 18345 | chr6 | TogoVar | |||||
CNKSR3_chr6_154382515_154515685 | 154418955 | CAAA | C | intron_variant | MODIFIER | HG02080.hp2 NA18944.hp1 NA18951.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0077a0001c0001t0078others(2): Show | a0001c0001t0006g0107a0001c0001t0006g0109a0001c0001t0006g0244others(4): Show | 7 | 342 | 0.0205 | -3 | c.945 others(20): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 9/12 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154421987 | CTTT | C | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01934.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0006a0001c0001t0077a0001c0001t0078others(10): Show | a0001c0001t0006g0107a0001c0001t0006g0109a0001c0001t0006g0244others(13): Show | 16 | 342 | 0.0468 | -3 | c.945 others(18): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 9/12 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154425841 | GCTT | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp2 HG00438.hp1 others(76): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(58): Show | a0001c0001t0001g0223a0001c0001t0003g0144a0001c0001t0004g0128others(76): Show | 79 | 342 | 0.2310 | -3 | c.729 others(20): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 7/12 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154431440 | CAAA | C | intron_variant | MODIFIER | HG00408.hp2 HG02056.hp1 HG02056.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0052others(7): Show | a0001c0001t0003g0094a0001c0001t0004g0317a0001c0001t0052g0038others(7): Show | 10 | 342 | 0.0292 | -3 | c.550 others(18): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 5/12 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154441242 | CAAA | C | intron_variant | MODIFIER | HG01070.hp1 HG01070.hp2 HG02055.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0008a0001c0001t0180a0001c0002t0018others(14): Show | a0001c0001t0008g0071a0001c0001t0180g0074a0001c0002t0018g0098others(16): Show | 19 | 342 | 0.0556 | -3 | c.507 others(16): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 4/12 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154446285 | ACTT | A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG01106.hp2 others(31): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0108a0001c0002t0001a0001c0002t0002others(25): Show | a0001c0001t0108g0265a0001c0002t0001g0229a0001c0002t0002g0111others(31): Show | 34 | 342 | 0.0994 | -3 | c.216 others(20): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 2/12 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154451733 | GGAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00408.hp1 others(39): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0009others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(30): Show | a0001c0001t0001g0087a0001c0001t0001g0157a0001c0001t0001g0235others(39): Show | 42 | 342 | 0.1228 | -3 | c.53- others(18): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154456707 | CAAA | C | intron_variant | MODIFIER | HG02559.hp1 HG02572.hp2 HG02630.hp1 others(12): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0002a0001c0001t0006a0001c0001t0015others(10): Show | a0001c0001t0002g0323a0001c0001t0006g0333a0001c0001t0015g0083others(12): Show | 15 | 342 | 0.0439 | -3 | c.53- others(18): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154488005 | AAAC | A | intron_variant | MODIFIER | NA18957.hp1 NA18983.hp1 NA19062.hp1 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0109a0001c0002t0033a0001c0003t0002 | a0001c0001t0109g0219a0001c0002t0033g0066a0001c0003t0002g0067 | 3 | 342 | 0.0088 | -3 | c.52+ others(20): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154488148 | TATA | T | intron_variant | MODIFIER | HG02055.hp2 HG02965.hp1 HG03540.hp2 |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0164a0001c0002t0162a0001c0003t0002 | a0001c0001t0164g0097a0001c0002t0162g0297a0001c0003t0002g0304 | 3 | 342 | 0.0088 | -3 | c.52+ others(20): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
CNKSR3_chr6_154382515_154515685 | 154505496 | ATTT | A | intron_variant | MODIFIER | HG00738.hp2 HG00741.hp2 HG01099.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0017a0001c0001t0024others(4): Show | a0001c0001t0001g0092a0001c0001t0001g0093a0001c0001t0017g0019others(8): Show | 11 | 342 | 0.0322 | -3 | c.52+ others(18): Show |
CNKSR3 | ENSG00000153721.19 | transcript | ENST00000607772.6 | protein_coding | 1/12 | chr6 | TogoVar | ||||||
CNMD_chr13_52698264_52744820 | 52709653 | TGCA | T | intron_variant | MODIFIER | HG02559.hp2 HG02615.hp2 HG02630.hp2 others(4): Show |
a0001a0004a0005 | a0001c0001a0001c0008a0004c0005others(1): Show | a0001c0001t0001a0001c0008t0001a0004c0005t0001others(1): Show | a0001c0001t0001g0086a0001c0001t0001g0087a0001c0001t0001g0088others(4): Show | 7 | 330 | 0.0212 | -3 | c.623 others(18): Show |
CNMD | ENSG00000136110.13 | transcript | ENST00000377962.8 | protein_coding | 5/6 | chr13 | TogoVar | ||||||
CNMD_chr13_52698264_52744820 | 52728376 | CAAA | C | intron_variant | MODIFIER | HG00544.hp1 HG01099.hp1 HG02155.hp1 others(6): Show |
a0001a0005 | a0001c0001a0001c0003a0005c0006 | a0001c0001t0001a0001c0003t0003a0005c0006t0001 | a0001c0001t0001g0143a0001c0001t0001g0231a0001c0003t0003g0013others(4): Show | 9 | 330 | 0.0273 | -3 | c.355 others(20): Show |
CNMD | ENSG00000136110.13 | transcript | ENST00000377962.8 | protein_coding | 3/6 | chr13 | TogoVar | ||||||
CNN1_chr19_11533851_11555323 | 11534694 | GGAA | G | upstream_gene_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02615.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0039a0001c0002t0002g0019a0001c0002t0002g0020others(6): Show | 11 | 392 | 0.0281 | -3 | c.-42 others(14): Show |
CNN1 | ENSG00000130176.8 | transcript | ENST00000252456.7 | protein_coding | 4156 | chr19 | TogoVar | ||||||
CNN1_chr19_11533851_11555323 | 11534856 | AAAG | A | upstream_gene_variant | MODIFIER | HG00280.hp2 HG01891.hp2 HG02055.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0002 | a0001c0001t0001g0001a0001c0001t0002g0039a0001c0002t0002g0019others(7): Show | 13 | 392 | 0.0332 | -3 | c.-40 others(14): Show |
CNN1 | ENSG00000130176.8 | transcript | ENST00000252456.7 | protein_coding | 3994 | chr19 | TogoVar | ||||||
CNN1_chr19_11533851_11555323 | 11537482 | AAAT | A | upstream_gene_variant | MODIFIER | HG02451.hp1 HG03453.hp1 HG04184.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0059a0001c0001t0002g0063a0001c0002t0002g0024 | 3 | 392 | 0.0077 | -3 | c.-14 others(14): Show |
CNN1 | ENSG00000130176.8 | transcript | ENST00000252456.7 | protein_coding | 1368 | chr19 | TogoVar | ||||||
CNN1_chr19_11533851_11555323 | 11542186 | CCTT | C | intron_variant | MODIFIER | HG01109.hp2 HG01952.hp1 HG02055.hp2 others(21): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0002a0001c0002t0002a0003c0007t0002 | a0001c0001t0002g0004a0001c0001t0002g0025a0001c0001t0002g0039others(11): Show | 24 | 392 | 0.0612 | -3 | c.185 others(20): Show |
CNN1 | ENSG00000130176.8 | transcript | ENST00000252456.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CNN1_chr19_11533851_11555323 | 11543463 | TATA | T | intron_variant | MODIFIER | HG01109.hp2 HG01952.hp1 HG02055.hp2 others(21): Show |
a0001a0003 | a0001c0001a0001c0002a0003c0007 | a0001c0001t0002a0001c0002t0002a0003c0007t0002 | a0001c0001t0002g0004a0001c0001t0002g0025a0001c0001t0002g0039others(11): Show | 24 | 392 | 0.0612 | -3 | c.185 others(20): Show |
CNN1 | ENSG00000130176.8 | transcript | ENST00000252456.7 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |