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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CRYBG1_chr6_106355717_106577017 | 106423694 | CCTTTTTT | C | intron_variant | MODIFIER | HG00673.hp1 HG00673.hp2 HG00738.hp1 others(25): Show |
a0001a0003a0004others(12): Show | a0001c0001a0001c0009a0001c0067others(15): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0014others(18): Show | a0001c0001t0001g0025a0001c0001t0001g0041a0001c0001t0001g0059others(25): Show | 28 | 272 | 0.1029 | -7 | c.174 others(26): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | chr6 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106436295 | CTTTTTTT | C | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp1 HG00558.hp1 others(188): Show |
a0001a0002a0003others(55): Show | a0001c0001a0001c0009a0001c0022others(64): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(78): Show | a0001c0001t0001g0001a0001c0001t0001g0012a0001c0001t0001g0016others(188): Show | 191 | 272 | 0.7022 | -7 | c.174 others(26): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CRYBG2_chr1_26316865_26359130 | 26333014 | CAAAAAAA | C | intron_variant | MODIFIER | HG00544.hp2 HG01069.hp1 HG01069.hp2 others(51): Show |
a0002a0003a0004others(7): Show | a0002c0002a0003c0015a0003c0042others(10): Show | a0002c0002t0001a0003c0015t0001a0003c0042t0001others(10): Show | a0002c0002t0001g0034a0002c0002t0001g0161a0003c0015t0001g0199others(42): Show | 54 | 376 | 0.1436 | -7 | c.418 others(26): Show |
CRYBG2 | ENSG00000176092.17 | transcript | ENST00000308182.10 | protein_coding | 14/19 | chr1 | TogoVar | ||||||
CRYGA_chr2_208155740_208168589 | 208157623 | CTTTTGTT | C | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(164): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0004a0003c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0004t0001others(3): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(16): Show | 167 | 394 | 0.4239 | -7 | c.*31 others(18): Show |
CRYGA | ENSG00000168582.5 | transcript | ENST00000304502.5 | protein_coding | 3116 | chr2 | TogoVar | ||||||
CRYGB_chr2_208137573_208151158 | 208142048 | ACATATAG | A | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00423.hp1 HG00597.hp2 others(105): Show |
a0001 | a0001c0002a0001c0003a0001c0008 | a0001c0002t0001a0001c0003t0001a0001c0003t0002others(1): Show | a0001c0002t0001g0040a0001c0002t0001g0041a0001c0002t0001g0042others(17): Show | 108 | 414 | 0.2609 | -7 | c.*58 others(16): Show |
CRYGB | ENSG00000182187.4 | transcript | ENST00000260988.5 | protein_coding | 524 | chr2 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20460511 | CTTTTTTT | C | intron_variant | MODIFIER | HG01175.hp2 HG01243.hp1 HG01258.hp1 others(15): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(3): Show | a0001c0001t0001g0059a0001c0001t0001g0089a0001c0001t0001g0143others(15): Show | 18 | 250 | 0.0720 | -7 | c.277 others(26): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 3/7 | chr13 | TogoVar | ||||||
CRYL1_chr13_20398669_20530857 | 20521123 | AAGGAAAG | A | intron_variant | MODIFIER | HG00099.hp2 HG01071.hp1 HG01167.hp1 others(17): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0061a0001c0001t0001g0063a0001c0001t0001g0064others(17): Show | 20 | 250 | 0.0800 | -7 | c.41+ others(22): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 1/7 | chr13 | TogoVar | ||||||
CRYZL1_chr21_33584341_33646741 | 33586848 | GGCTGTTC | G | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01109.hp1 HG01243.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0038a0001c0001t0002g0051a0001c0001t0002g0061others(12): Show | 15 | 360 | 0.0417 | -7 | c.*29 others(18): Show |
CRYZL1 | ENSG00000205758.12 | transcript | ENST00000381554.8 | protein_coding | 2492 | chr21 | TogoVar | ||||||
CRYZ_chr1_74700486_74738050 | 74705079 | ATAAACTT | A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(56): Show |
a0001a0002 | a0001c0005a0002c0004a0002c0007 | a0001c0005t0003a0002c0004t0003a0002c0007t0003 | a0001c0005t0003g0010a0001c0005t0003g0019a0001c0005t0003g0041others(43): Show | 59 | 372 | 0.1586 | -7 | c.*12 others(18): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 406 | chr1 | TogoVar | ||||||
CRYZ_chr1_74700486_74738050 | 74732597 | CGGGGGGG | C | intron_variant | MODIFIER | HG00597.hp1 HG00673.hp1 HG01074.hp1 others(37): Show |
a0001a0002 | a0001c0001a0001c0005a0001c0006others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0005t0003others(8): Show | a0001c0001t0001g0216a0001c0001t0002g0009a0001c0001t0002g0217others(27): Show | 40 | 372 | 0.1075 | -7 | c.-14 others(22): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | ||||||
CSAD_chr12_53152663_53185925 | 53153467 | TGTATCAA | T | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01256.hp2 HG02080.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009 | a0001c0001t0002g0004a0001c0001t0002g0006a0001c0001t0002g0014others(15): Show | 32 | 334 | 0.0958 | -7 | c.*50 others(18): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 4195 | chr12 | TogoVar | ||||||
CSAD_chr12_53152663_53185925 | 53179621 | TTTCAATG | T | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02486.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005a0001c0001t0003g0024a0001c0001t0003g0025others(2): Show | 13 | 334 | 0.0389 | -7 | c.-90 others(22): Show |
CSAD | ENSG00000139631.20 | transcript | ENST00000444623.6 | protein_coding | 1/16 | chr12 | TogoVar | ||||||
CSAG2_chrX_152703261_152714273 | 152710856 | ATATATAT | A | upstream_gene_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0018 | 1 | 211 | 0.0047 | -7 | c.-17 others(18): Show |
CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 1584 | chrX | TogoVar | ||||||
CSAG2_chrX_152703261_152714273 | 152710857 | TATATATA | T | upstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004 | 1 | 211 | 0.0047 | -7 | c.-17 others(18): Show |
CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 1585 | chrX | TogoVar | ||||||
CSAG2_chrX_152703261_152714273 | 152711688 | TGAAGCAA | T | upstream_gene_variant | MODIFIER | NA19066.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 1 | 211 | 0.0047 | -7 | c.-25 others(18): Show |
CSAG2 | ENSG00000268902.4 | transcript | ENST00000638741.2 | protein_coding | 2416 | chrX | TogoVar | ||||||
CSDC2_chr22_41556010_41581666 | 41561074 | ACACACAC | A | 5_prime_UTR_variant | MODIFIER | HG00621.hp1 HG00673.hp2 HG00735.hp1 others(39): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001a0001c0001t0002g0003a0001c0001t0002g0024others(21): Show | 42 | 288 | 0.1458 | -7 | c.-23 others(16): Show |
CSDC2 | ENSG00000172346.15 | transcript | ENST00000306149.12 | protein_coding | 1/4 | 10885 | chr22 | TogoVar | |||||
CSF1R_chr5_150048295_150091554 | 150074305 | GTTTTTTT | G | intron_variant | MODIFIER | HG00735.hp1 HG02258.hp1 HG02965.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0012 | a0001c0001t0009g0229a0001c0001t0009g0231a0001c0001t0009g0232others(4): Show | 7 | 406 | 0.0172 | -7 | c.890 others(22): Show |
CSF1R | ENSG00000182578.14 | transcript | ENST00000675795.1 | protein_coding | 5/20 | chr5 | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1283468 | CCCTCCCT | C | intron_variant | MODIFIER | NA19063.hp1 | a0006 | a0006c0022 | a0006c0022t0004 | a0006c0022t0004g0073 | 1 | 159 | 0.0063 | -7 | c.76+ others(20): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1285628 | GAGCTTGC | G | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp2 HG00423.hp1 others(135): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0005others(16): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(42): Show | a0001c0001t0001g0013a0001c0001t0001g0017a0001c0001t0001g0025others(135): Show | 138 | 159 | 0.8679 | -7 | c.77- others(20): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1285701 | CAAAAAAA | C | intron_variant | MODIFIER | HG01070.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0030 | 1 | 159 | 0.0063 | -7 | c.77- others(18): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF2RA_chrX_1263814_1314935 | 1291278 | TTTTCTTC | T | intron_variant | MODIFIER | HG00408.hp2 HG00639.hp1 HG01169.hp1 others(61): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0013a0001c0001t0001g0014a0001c0001t0001g0017others(61): Show | 64 | 159 | 0.4025 | -7 | c.646 others(22): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 7/12 | chrX | TogoVar | ||||||
CSF2RA_chrX_1263814_1314935 | 1304886 | AACTCTTG | A | intron_variant | MODIFIER | HG00140.hp1 HG01175.hp2 HG01358.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0048a0001c0001t0002g0026a0001c0001t0002g0036others(5): Show | 8 | 159 | 0.0503 | -7 | c.104 others(24): Show |
CSF2RA | ENSG00000198223.18 | transcript | ENST00000381529.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
CSF3_chr17_40010440_40022813 | 40017473 | CTGGGGAA | C | 3_prime_UTR_variant | MODIFIER | HG02895.hp2 HG03471.hp2 HG03540.hp2 others(1): Show |
a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0005 | 4 | 434 | 0.0092 | -7 | c.*51 others(16): Show |
CSF3 | ENSG00000108342.13 | transcript | ENST00000394149.8 | protein_coding | 5/5 | 516 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||
CSGALNACT1_chr8_19399161_19762277 | 19407906 | TGTGTGTG | T | intron_variant | MODIFIER | HG03471.hp2 HG03486.hp2 |
a0002 | a0002c0003 | a0002c0003t0020 | a0002c0003t0020g0078a0002c0003t0020g0101 | 2 | 238 | 0.0084 | -7 | c.130 others(24): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 8/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19459382 | CAAAAAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00673.hp1 HG02015.hp2 others(12): Show |
a0001a0002a0004 | a0001c0006a0002c0003a0002c0008others(1): Show | a0001c0006t0002a0002c0003t0003a0002c0003t0004others(5): Show | a0001c0006t0002g0063a0001c0006t0002g0135a0001c0006t0002g0136others(12): Show | 15 | 238 | 0.0630 | -7 | c.635 others(22): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19507528 | GAAAAAAA | G | intron_variant | MODIFIER | HG00140.hp2 HG02622.hp2 HG02630.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0004a0001c0002t0005a0001c0002t0023others(2): Show | a0001c0002t0004g0158a0001c0002t0005g0075a0001c0002t0005g0080others(3): Show | 6 | 238 | 0.0252 | -7 | c.-29 others(26): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 2/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19618629 | CAAAAAAA | C | intron_variant | MODIFIER | HG02109.hp2 HG02809.hp2 HG02886.hp1 others(2): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0005a0001c0002t0012a0001c0002t0041others(1): Show | a0001c0002t0005g0050a0001c0002t0005g0073a0001c0002t0012g0175others(2): Show | 5 | 238 | 0.0210 | -7 | c.-39 others(28): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19618650 | AAAAAAAG | A | intron_variant | MODIFIER | HG02055.hp2 HG02258.hp2 HG02559.hp1 others(4): Show |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0006a0001c0002t0023a0002c0003t0005others(1): Show | a0001c0002t0006g0017a0001c0002t0006g0047a0001c0002t0023g0096others(4): Show | 7 | 238 | 0.0294 | -7 | c.-39 others(28): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19641128 | CTTTTTTT | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00642.hp2 others(59): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0002c0003others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(34): Show | a0001c0001t0001g0024a0001c0001t0001g0040a0001c0001t0001g0083others(59): Show | 62 | 238 | 0.2605 | -7 | c.-39 others(28): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19658062 | CAAAAAAA | C | intron_variant | MODIFIER | HG01074.hp1 HG01081.hp1 HG01099.hp2 others(4): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0001a0001c0001t0033a0001c0002t0007others(2): Show | a0001c0001t0001g0040a0001c0001t0001g0167a0001c0001t0033g0044others(4): Show | 7 | 238 | 0.0294 | -7 | c.-39 others(28): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT1_chr8_19399161_19762277 | 19676089 | AACAAAAC | A | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01069.hp2 others(15): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(11): Show | a0001c0001t0001g0159a0001c0001t0001g0160a0001c0001t0006g0152others(15): Show | 18 | 238 | 0.0756 | -7 | c.-39 others(28): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
CSGALNACT2_chr10_43133445_43190302 | 43146985 | TTTTTGTG | T | intron_variant | MODIFIER | HG00741.hp2 HG01106.hp2 HG01192.hp1 others(26): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0003a0001c0001t0005a0001c0001t0006others(2): Show | a0001c0001t0003g0086a0001c0001t0003g0090a0001c0001t0003g0122others(18): Show | 29 | 398 | 0.0729 | -7 | c.-25 others(26): Show |
CSGALNACT2 | ENSG00000169826.8 | transcript | ENST00000374466.4 | protein_coding | 1/7 | chr10 | TogoVar | ||||||
CSHL1_chr17_63904608_63916258 | 63911803 | ACACTGAC | A | upstream_gene_variant | MODIFIER | HG02055.hp1 HG02615.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0005 | 6 | 438 | 0.0137 | -7 | c.-61 others(16): Show |
CSHL1 | ENSG00000204414.14 | transcript | ENST00000309894.6 | protein_coding | 546 | chr17 | TogoVar | ||||||
CSK_chr15_74777080_74808197 | 74793387 | GCCTCCTC | G | intron_variant | MODIFIER | HG00140.hp2 HG00544.hp2 HG01943.hp1 others(11): Show |
a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0014a0001c0005t0005g0054a0001c0005t0005g0055others(7): Show | 14 | 394 | 0.0355 | -7 | c.-65 others(24): Show |
CSK | ENSG00000103653.17 | transcript | ENST00000220003.14 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | |||||
CSMD1_chr8_2930361_4999914 | 3017806 | TAAAAAAA | T | intron_variant | MODIFIER | HG02055.hp1 HG02056.hp2 HG02257.hp1 others(3): Show |
a0001a0002a0003others(3): Show | a0001c0071a0002c0074a0003c0034others(3): Show | a0001c0071t0069a0002c0074t0041a0003c0034t0030others(3): Show | a0001c0071t0069g0115a0002c0074t0041g0031a0003c0034t0030g0038others(3): Show | 6 | 126 | 0.0476 | -7 | c.802 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 52/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3083639 | TATATATA | T | intron_variant | MODIFIER | HG01123.hp1 HG03139.hp1 |
a0002a0008 | a0002c0074a0008c0008 | a0002c0074t0041a0008c0008t0082 | a0002c0074t0041g0031a0008c0008t0082g0126 | 2 | 126 | 0.0159 | -7 | c.747 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 49/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3119384 | TAAAAAAA | T | intron_variant | MODIFIER | HG01074.hp1 HG01255.hp2 HG01884.hp1 others(11): Show |
a0001a0002a0007others(6): Show | a0001c0033a0001c0045a0001c0046others(11): Show | a0001c0033t0003a0001c0045t0012a0001c0046t0073others(11): Show | a0001c0033t0003g0059a0001c0045t0012g0010a0001c0046t0073g0091others(11): Show | 14 | 126 | 0.1111 | -7 | c.624 others(24): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 41/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3175686 | GCTTCAGA | G | intron_variant | MODIFIER | HG00438.hp2 HG01071.hp2 HG01081.hp2 others(38): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0002a0001c0004others(36): Show | a0001c0001t0002a0001c0002t0028a0001c0002t0061others(38): Show | a0001c0001t0002g0125a0001c0002t0028g0005a0001c0002t0061g0069others(38): Show | 41 | 126 | 0.3254 | -7 | c.572 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 37/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3268289 | ATTTTTTT | A | intron_variant | MODIFIER | HG01934.hp1 HG02257.hp2 HG02723.hp1 others(1): Show |
a0001a0002a0024 | a0001c0003a0001c0007a0002c0075others(1): Show | a0001c0003t0019a0001c0007t0001a0002c0075t0026others(1): Show | a0001c0003t0019g0107a0001c0007t0001g0035a0002c0075t0026g0051others(1): Show | 4 | 126 | 0.0318 | -7 | c.415 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 26/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3270046 | CTTTTTTT | C | intron_variant | MODIFIER | HG00423.hp1 HG01071.hp2 HG01074.hp2 others(40): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0004others(38): Show | a0001c0001t0002a0001c0001t0039a0001c0002t0061others(40): Show | a0001c0001t0002g0102a0001c0001t0039g0017a0001c0002t0061g0069others(40): Show | 43 | 126 | 0.3413 | -7 | c.415 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 26/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3270928 | TTTATTTA | T | intron_variant | MODIFIER | HG00423.hp1 HG01071.hp2 HG01074.hp2 others(39): Show |
a0001a0002a0003others(12): Show | a0001c0001a0001c0002a0001c0004others(37): Show | a0001c0001t0002a0001c0001t0039a0001c0002t0061others(39): Show | a0001c0001t0002g0102a0001c0001t0039g0017a0001c0002t0061g0069others(39): Show | 42 | 126 | 0.3333 | -7 | c.415 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 26/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3394021 | TATATATA | T | intron_variant | MODIFIER | HG01243.hp1 HG01261.hp2 HG02723.hp2 others(2): Show |
a0001a0002a0005others(1): Show | a0001c0109a0002c0036a0005c0064others(2): Show | a0001c0109t0038a0002c0036t0029a0005c0064t0051others(2): Show | a0001c0109t0038g0013a0002c0036t0029g0009a0005c0064t0051g0078others(2): Show | 5 | 126 | 0.0397 | -7 | c.259 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 17/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3414212 | CAAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG01071.hp1 HG01261.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0005a0001c0108others(5): Show | a0001c0002t0002a0001c0002t0028a0001c0005t0007others(6): Show | a0001c0002t0002g0083a0001c0002t0028g0005a0001c0005t0007g0070others(6): Show | 9 | 126 | 0.0714 | -7 | c.156 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3429211 | CTGAACGT | C | intron_variant | MODIFIER | HG00099.hp1 HG02486.hp1 HG04204.hp1 |
a0028a0034a0037 | a0028c0097a0034c0055a0037c0101 | a0028c0097t0018a0034c0055t0034a0037c0101t0008 | a0028c0097t0018g0089a0034c0055t0034g0047a0037c0101t0008g0023 | 3 | 126 | 0.0238 | -7 | c.156 others(28): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3739130 | AGTTAATT | A | intron_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01071.hp1 others(6): Show |
a0001a0002a0033others(1): Show | a0001c0061a0001c0079a0001c0080others(6): Show | a0001c0061t0001a0001c0079t0072a0001c0080t0040others(6): Show | a0001c0061t0001g0021a0001c0079t0072g0113a0001c0080t0040g0025others(6): Show | 9 | 126 | 0.0714 | -7 | c.931 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 6/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3795904 | TCATGTAC | T | intron_variant | MODIFIER | HG02886.hp2 NA18522.hp2 |
a0002 | a0002c0072a0002c0078 | a0002c0072t0003a0002c0078t0044 | a0002c0072t0003g0066a0002c0078t0044g0064 | 2 | 126 | 0.0159 | -7 | c.819 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3801632 | AGAAAACT | A | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00438.hp1 others(33): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0002a0001c0003others(31): Show | a0001c0001t0039a0001c0002t0002a0001c0002t0028others(33): Show | a0001c0001t0039g0017a0001c0002t0002g0083a0001c0002t0028g0005others(33): Show | 36 | 126 | 0.2857 | -7 | c.819 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3817252 | CTTTTTTT | C | intron_variant | MODIFIER | HG01081.hp2 HG02559.hp1 HG02622.hp1 others(3): Show |
a0001a0002a0004others(2): Show | a0001c0004a0001c0005a0002c0030others(3): Show | a0001c0004t0020a0001c0005t0002a0002c0030t0016others(3): Show | a0001c0004t0020g0086a0001c0005t0002g0111a0002c0030t0016g0122others(3): Show | 6 | 126 | 0.0476 | -7 | c.819 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3919184 | CAAAAAAA | C | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG01074.hp2 others(17): Show |
a0001a0002a0004others(1): Show | a0001c0003a0001c0005a0001c0006others(15): Show | a0001c0003t0008a0001c0003t0013a0001c0003t0019others(17): Show | a0001c0003t0008g0053a0001c0003t0013g0026a0001c0003t0019g0107others(17): Show | 20 | 126 | 0.1587 | -7 | c.818 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3981500 | TAAAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00735.hp1 others(32): Show |
a0001a0002a0005others(10): Show | a0001c0001a0001c0002a0001c0003others(30): Show | a0001c0001t0039a0001c0002t0002a0001c0003t0013others(32): Show | a0001c0001t0039g0017a0001c0002t0002g0083a0001c0003t0013g0026others(32): Show | 35 | 126 | 0.2778 | -7 | c.818 others(26): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar |