view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRYBG1_chr6_106355717_106577017 | 106391962 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02622.hp1 others(3): Show |
a0006a0007a0016others(2): Show | a0006c0005a0007c0007a0016c0023others(2): Show | a0006c0005t0004a0007c0007t0003a0016c0023t0001others(2): Show | a0006c0005t0004g0235 a0007c0007t0003g0266 a0016c0023t0001g0265 others(3): Show |
6 | 272 | 0.0221 | -10 | c.173 others(29): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106423694 | CCTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02895.hp2 HG02897.hp1 others(1): Show |
a0012a0017a0042 | a0012c0015a0017c0019a0042c0055 | a0012c0015t0003a0017c0019t0001a0042c0055t0001 | a0012c0015t0003g0241 a0012c0015t0003g0242 a0017c0019t0001g0073 others(1): Show |
4 | 272 | 0.0147 | -10 | c.174 others(29): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | chr6 | TogoVar | |||||||
CRYBG1_chr6_106355717_106577017 | 106433735 | ACATATAT others(3): Show |
A | intron_variant | MODIFIER | HG00438.hp1 HG01070.hp2 HG01071.hp2 others(23): Show |
a0001a0002a0003others(9): Show | a0001c0001a0001c0009a0002c0003others(11): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(13): Show | a0001c0001t0001g0026 a0001c0001t0001g0030 a0001c0001t0001g0032 others(23): Show |
26 | 272 | 0.0956 | -10 | c.174 others(29): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | chr6 | TogoVar | |||||||
CRYBG1_chr6_106355717_106577017 | 106460781 | GTTGTTTT others(3): Show |
G | intron_variant | MODIFIER | NA18940.hp1 NA18973.hp2 |
a0002a0048 | a0002c0003a0048c0070 | a0002c0003t0002a0048c0070t0004 | a0002c0003t0002g0099 a0048c0070t0004g0139 |
2 | 272 | 0.0074 | -10 | c.312 others(27): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106480464 | ACCATCCA others(3): Show |
A | intron_variant | MODIFIER | NA18971.hp2 | a0003 | a0003c0002 | a0003c0002t0005 | a0003c0002t0005g0102 | 1 | 272 | 0.0037 | -10 | c.312 others(29): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | chr6 | TogoVar | |||||||
CRYBG1_chr6_106355717_106577017 | 106518982 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG00735.hp2 HG00738.hp2 others(48): Show |
a0004a0008a0012others(14): Show | a0004c0004a0004c0057a0004c0069others(16): Show | a0004c0004t0002a0004c0004t0017a0004c0057t0002others(22): Show | a0004c0004t0002g0017 a0004c0004t0002g0040 a0004c0004t0002g0069 others(48): Show |
51 | 272 | 0.1875 | -10 | c.192 others(27): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106542608 | CATTTTAT others(3): Show |
C | intron_variant | MODIFIER | HG00733.hp1 HG00738.hp2 HG01070.hp1 others(37): Show |
a0001a0003a0004others(15): Show | a0001c0001a0001c0067a0003c0002others(17): Show | a0001c0001t0001a0001c0001t0004a0001c0067t0001others(21): Show | a0001c0001t0001g0012 a0001c0001t0001g0261 a0001c0001t0004g0168 others(37): Show |
40 | 272 | 0.1471 | -10 | c.488 others(27): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106542977 | CATTTTAT others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00438.hp1 others(53): Show |
a0001a0002a0003others(10): Show | a0001c0001a0001c0009a0001c0024others(13): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(16): Show | a0001c0001t0001g0001 a0001c0001t0001g0012 a0001c0001t0001g0016 others(53): Show |
56 | 272 | 0.2059 | -10 | c.488 others(27): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 10/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106552582 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01346.hp1 HG02886.hp1 others(1): Show |
a0013a0016a0060 | a0013c0016a0016c0023a0060c0072 | a0013c0016t0001a0016c0023t0001a0060c0072t0001 | a0013c0016t0001g0136 a0013c0016t0001g0264 a0016c0023t0001g0182 others(1): Show |
4 | 272 | 0.0147 | -10 | c.547 others(27): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 15/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106572779 | TTTGTTTT others(3): Show |
T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG01106.hp2 HG01255.hp1 others(41): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0003a0002c0011others(12): Show | a0001c0001t0003a0002c0003t0003a0002c0011t0003others(14): Show | a0001c0001t0003g0077 a0001c0001t0003g0084 a0001c0001t0003g0209 others(41): Show |
44 | 272 | 0.1618 | -10 | c.*42 others(21): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 763 | chr6 | TogoVar | |||||||
CRYBG2_chr1_26316865_26359130 | 26325610 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | NA18956.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0187 | 1 | 376 | 0.0027 | -10 | c.457 others(29): Show |
CRYBG2 | ENSG00000176092.17 | transcript | ENST00000308182.10 | protein_coding | 17/19 | chr1 | TogoVar | |||||||
CRYBG3_chr3_97817011_97949984 | 97819081 | TACACACA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG03209.hp1 | a0031 | a0031c0031 | a0031c0031t0001 | a0031c0031t0001g0160 | 1 | 316 | 0.0032 | -10 | c.-31 others(21): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 2929 | chr3 | TogoVar | |||||||
CRYBG3_chr3_97817011_97949984 | 97853406 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0006 | a0006c0008 | a0006c0008t0001 | a0006c0008t0001g0154 | 1 | 316 | 0.0032 | -10 | c.216 others(29): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CRYBG3_chr3_97817011_97949984 | 97881669 | TCACGCCA others(3): Show |
T | intron_variant | MODIFIER | HG01070.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0203 | 1 | 316 | 0.0032 | -10 | c.715 others(27): Show |
CRYBG3 | ENSG00000080200.10 | transcript | ENST00000389622.7 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CRYGN_chr7_151423832_151445141 | 151441920 | TACACACA others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02602.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0124 a0001c0002t0001g0002 |
2 | 452 | 0.0044 | -10 | c.-20 others(21): Show |
CRYGN | ENSG00000127377.10 | transcript | ENST00000337323.3 | protein_coding | 1780 | chr7 | TogoVar | |||||||
CRYGS_chr3_186533443_186549380 | 186534911 | AACACACA others(3): Show |
A | downstream_gene_variant | MODIFIER | HG02258.hp2 HG02559.hp1 HG02896.hp1 others(3): Show |
a0001a0004 | a0001c0001a0004c0006 | a0001c0001t0001a0004c0006t0001 | a0001c0001t0001g0003 a0001c0001t0001g0012 a0001c0001t0001g0021 others(1): Show |
6 | 396 | 0.0152 | -10 | c.*37 others(21): Show |
CRYGS | ENSG00000213139.8 | transcript | ENST00000307944.6 | protein_coding | 3531 | chr3 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20420701 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG02257.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0233 a0001c0002t0002g0075 |
2 | 250 | 0.0080 | -10 | c.634 others(27): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 5/7 | chr13 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20453381 | GAATATTT others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00609.hp2 others(65): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0030 a0001c0001t0001g0033 a0001c0001t0001g0039 others(65): Show |
68 | 250 | 0.2720 | -10 | c.277 others(29): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20460511 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00544.hp2 HG00642.hp2 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0030 a0001c0001t0001g0039 a0001c0001t0001g0052 others(48): Show |
51 | 250 | 0.2040 | -10 | c.277 others(29): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20508866 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG01123.hp1 HG01175.hp2 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0031 a0001c0001t0001g0035 a0001c0001t0001g0046 others(20): Show |
23 | 250 | 0.0920 | -10 | c.149 others(27): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20521124 | AGGAAAGA others(3): Show |
A | intron_variant | MODIFIER | HG00544.hp1 HG00673.hp2 HG01070.hp2 others(45): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0030 a0001c0001t0001g0031 a0001c0001t0001g0035 others(45): Show |
48 | 250 | 0.1920 | -10 | c.41+ others(25): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 1/7 | chr13 | TogoVar | |||||||
CRYZL1_chr21_33584341_33646741 | 33620902 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG02818.hp1 HG02976.hp2 HG03130.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0245 a0001c0001t0001g0246 a0001c0001t0001g0247 others(1): Show |
4 | 360 | 0.0111 | -10 | c.217 others(27): Show |
CRYZL1 | ENSG00000205758.12 | transcript | ENST00000381554.8 | protein_coding | 4/12 | chr21 | TogoVar | |||||||
CRYZ_chr1_74700486_74738050 | 74701211 | TCTCCCCC others(3): Show |
T | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00621.hp2 HG00673.hp1 others(62): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0003others(5): Show | a0001c0001t0001g0031 a0001c0001t0001g0033 a0001c0001t0001g0034 others(51): Show |
65 | 372 | 0.1747 | -10 | c.*50 others(21): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 4274 | chr1 | TogoVar | |||||||
CRYZ_chr1_74700486_74738050 | 74732597 | CGGGGGGG others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp1 HG00438.hp1 others(160): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0008 a0001c0001t0001g0015 a0001c0001t0001g0017 others(90): Show |
163 | 372 | 0.4382 | -10 | c.-14 others(25): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CSAD_chr12_53152663_53185925 | 53166798 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0124 | 1 | 334 | 0.0030 | -10 | c.702 others(27): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 10/16 | chr12 | TogoVar | |||||||
CSAD_chr12_53152663_53185925 | 53184142 | TGTGTGTG others(3): Show |
T | upstream_gene_variant | MODIFIER | HG01255.hp2 HG03710.hp1 HG04115.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0133 a0001c0001t0001g0137 |
4 | 334 | 0.0120 | -10 | c.-35 others(21): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 3218 | chr12 | TogoVar | |||||||
CSAD_chr12_53152663_53185925 | 53184148 | TGTGCGCG others(3): Show |
T | upstream_gene_variant | MODIFIER | HG02280.hp1 HG02486.hp2 HG02615.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 a0001c0001t0003g0024 |
7 | 334 | 0.0210 | -10 | c.-35 others(21): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 3224 | chr12 | TogoVar | |||||||
CSAG1_chrX_152722484_152738721 | 152726243 | TGGGTTTC others(3): Show |
T | downstream_gene_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 318 | 0.0031 | -10 | c.*15 others(21): Show |
CSAG1 | ENSG00000198930.13 | transcript | ENST00000452779.3 | protein_coding | 1240 | chrX | TogoVar | |||||||
CSAG2_chrX_152703261_152714273 | 152710821 | GATATATA others(3): Show |
G | upstream_gene_variant | MODIFIER | HG00741.hp1 HG01168.hp1 HG01256.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0011 | a0001c0001t0001g0001 a0001c0001t0002g0006 a0001c0001t0011g0024 |
13 | 211 | 0.0616 | -10 | c.-17 others(21): Show |
CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 1549 | chrX | TogoVar | |||||||
CSDC2_chr22_41556010_41581666 | 41556751 | CTGTGTGT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG02300.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 288 | 0.0035 | -10 | c.-45 others(21): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 4258 | chr22 | TogoVar | |||||||
CSE1L_chr20_49041312_49101949 | 49047564 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00639.hp2 others(36): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0010others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0010t0001others(1): Show | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0101 others(36): Show |
39 | 386 | 0.1010 | -10 | c.-12 others(27): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49049263 | GCCTGGGC others(3): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00558.hp2 HG01106.hp1 others(35): Show |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0265 others(33): Show |
38 | 386 | 0.0985 | -10 | c.-12 others(27): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49053147 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00639.hp2 others(38): Show |
a0001a0003 | a0001c0001a0001c0010a0003c0006 | a0001c0001t0001a0001c0010t0001a0003c0006t0001 | a0001c0001t0001g0006 a0001c0001t0001g0007 a0001c0001t0001g0101 others(38): Show |
41 | 386 | 0.1062 | -10 | c.-11 others(27): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49056847 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG00621.hp1 HG02027.hp1 HG02055.hp2 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 a0001c0001t0001g0151 a0001c0001t0001g0152 others(11): Show |
14 | 386 | 0.0363 | -10 | c.-11 others(27): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49067031 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02135.hp2 NA19006.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 a0001c0001t0001g0150 a0001c0001t0001g0192 |
3 | 386 | 0.0078 | -10 | c.477 others(25): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 5/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49074176 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG01358.hp2 HG01516.hp1 HG02145.hp2 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0282 a0001c0001t0001g0305 a0001c0001t0001g0317 others(7): Show |
10 | 386 | 0.0259 | -10 | c.106 others(27): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 10/24 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CSE1L_chr20_49041312_49101949 | 49097938 | ATTTTTTT others(3): Show |
A | downstream_gene_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0041 | 1 | 386 | 0.0026 | -10 | c.*15 others(21): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 990 | chr20 | TogoVar | |||||||
CSF1R_chr5_150048295_150091554 | 150083349 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG02135.hp2 HG02896.hp2 NA21309.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0005a0002c0003t0001 | a0001c0001t0005g0391 a0001c0001t0005g0392 a0002c0003t0001g0067 |
3 | 406 | 0.0074 | -10 | c.50- others(25): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 1/20 | chr5 | TogoVar | |||||||
CSF2RA_chrX_1263814_1314935 | 1269642 | AAAAAGAG others(3): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00597.hp1 HG01081.hp1 others(40): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0007others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0115 a0001c0001t0001g0121 a0001c0001t0002g0117 others(40): Show |
43 | 159 | 0.2704 | -10 | c.-91 others(25): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1298749 | CATGACCC others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(109): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0014others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(34): Show | a0001c0001t0001g0013 a0001c0001t0001g0014 a0001c0001t0001g0017 others(109): Show |
112 | 159 | 0.7044 | -10 | c.811 others(27): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 9/12 | chrX | TogoVar | |||||||
CSF2RB_chr22_36908628_36945439 | 36921169 | GTATATGT others(3): Show |
G | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0126 | 1 | 360 | 0.0028 | -10 | c.-17 others(27): Show |
CSF2RB | ENSG00000100368.15 | transcript | ENST00000403662.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CSF2RB_chr22_36908628_36945439 | 36921274 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(122): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0002a0001c0003others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(29): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0007 others(83): Show |
125 | 360 | 0.3472 | -10 | c.-17 others(27): Show |
CSF2RB | ENSG00000100368.15 | transcript | ENST00000403662.8 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19408468 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG03471.hp2 HG03486.hp2 |
a0002 | a0002c0003 | a0002c0003t0020 | a0002c0003t0020g0078 a0002c0003t0020g0101 |
2 | 238 | 0.0084 | -10 | c.130 others(27): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 8/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19409498 | TATAGAGA others(3): Show |
T | intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0044 | a0001c0002t0044g0186 | 1 | 238 | 0.0042 | -10 | c.122 others(27): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 7/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19428825 | ATGTGTGT others(3): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG00738.hp2 HG01099.hp1 others(17): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(9): Show | a0001c0001t0001g0123 a0001c0001t0001g0138 a0001c0001t0002g0204 others(17): Show |
20 | 238 | 0.0840 | -10 | c.954 others(27): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 5/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19488370 | CATATATA others(3): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp2 HG01071.hp2 others(16): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0024others(3): Show | a0001c0001t0001g0064 a0001c0001t0001g0065 a0001c0001t0001g0108 others(16): Show |
19 | 238 | 0.0798 | -10 | c.634 others(29): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19493871 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG03225.hp1 |
a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0017 a0001c0002t0006g0047 |
2 | 238 | 0.0084 | -10 | c.634 others(29): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19507528 | GAAAAAAA others(3): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0014 | a0014c0013 | a0014c0013t0004 | a0014c0013t0004g0220 | 1 | 238 | 0.0042 | -10 | c.-29 others(29): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19514475 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG02897.hp2 HG03139.hp1 others(1): Show |
a0001a0003a0011 | a0001c0002a0003c0005a0011c0019 | a0001c0002t0005a0001c0002t0025a0003c0005t0004others(1): Show | a0001c0002t0005g0172 a0001c0002t0025g0001 a0003c0005t0004g0007 others(1): Show |
4 | 238 | 0.0168 | -10 | c.-29 others(29): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19530222 | AAAAACAA others(3): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00438.hp1 others(79): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0002a0001c0007others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(36): Show | a0001c0001t0001g0053 a0001c0001t0001g0065 a0001c0001t0001g0137 others(79): Show |
82 | 238 | 0.3445 | -10 | c.-29 others(31): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar |