| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| COL18A1_chr21_45400165_45518720 | 45500221 | A | ATAGTGTG others(40): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(114): Show |
a0001a0002a0004others(18): Show | a0001c0001a0001c0002a0001c0003others(46): Show | a0001c0001t0001a0001c0002t0012a0001c0003t0001others(51): Show | a0001c0001t0001g0031a0001c0001t0001g0033a0001c0001t0001g0052others(114): Show | 117 | 292 | 0.4007 | 47 | c.268 others(66): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL18A1_chr21_45400165_45518720 | 45500236 | G | GAGGGGGT others(40): Show |
intron_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0193 | 1 | 292 | 0.0034 | 47 | c.268 others(66): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL4A2_chr13_110302284_110518209 | 110506267 | T | TCTCTCTC others(40): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02572.hp2 HG03209.hp2 others(2): Show |
a0001a0002 | a0001c0022a0002c0041a0002c0055others(1): Show | a0001c0022t0018a0002c0041t0002a0002c0041t0018others(2): Show | a0001c0022t0018g0173a0002c0041t0002g0369a0002c0041t0018g0003others(2): Show | 5 | 372 | 0.0134 | 47 | c.440 others(64): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 45/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0344 | 1 | 344 | 0.0029 | 47 | c.546 others(62): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | HG00438.hp1 | a0005 | a0005c0005 | a0005c0005t0002 | a0005c0005t0002g0204 | 1 | 344 | 0.0029 | 47 | c.546 others(62): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | HG02273.hp1 HG03239.hp2 HG04184.hp1 |
a0001a0003 | a0001c0001a0003c0002a0003c0011 | a0001c0001t0001a0003c0002t0004a0003c0011t0021 | a0001c0001t0001g0034a0003c0002t0004g0281a0003c0011t0021g0303 | 3 | 344 | 0.0087 | 47 | c.546 others(62): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | NA18982.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0185 | 1 | 344 | 0.0029 | 47 | c.546 others(62): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | HG02683.hp1 HG03654.hp2 NA20905.hp2 |
a0001a0016 | a0001c0001a0016c0024 | a0001c0001t0002a0016c0024t0002 | a0001c0001t0002g0033a0001c0001t0002g0172a0016c0024t0002g0232 | 3 | 344 | 0.0087 | 47 | c.546 others(62): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| COL4A3_chr2_227159624_227319792 | 227249230 | A | ATATATAT others(40): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0135 | 1 | 344 | 0.0029 | 47 | c.546 others(62): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 9/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| COL6A1_chr21_45976770_46010048 | 45987886 | G | GGTCCAGA others(40): Show |
intron_variant | MODIFIER | HG01255.hp1 homoSapiens_chm13v2.hp1 |
a0001 | a0001c0001a0001c0017 | a0001c0001t0003a0001c0017t0003 | a0001c0001t0003g0020a0001c0017t0003g0016 | 2 | 128 | 0.0156 | 47 | c.804 others(62): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL6A1_chr21_45976770_46010048 | 45987980 | C | CTCCAGAT others(40): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0061 | 1 | 128 | 0.0078 | 47 | c.804 others(62): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL6A1_chr21_45976770_46010048 | 45988004 | G | GTCCAGAT others(40): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0070 | 1 | 128 | 0.0078 | 47 | c.804 others(62): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL6A1_chr21_45976770_46010048 | 45988167 | G | GTCCAGAT others(40): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0122 | 1 | 128 | 0.0078 | 47 | c.804 others(62): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 8/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL6A2_chr21_46093112_46134801 | 46133597 | A | AAGCTCAC others(40): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0317 | 1 | 372 | 0.0027 | 47 | c.*41 others(58): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 3797 | chr21 | TogoVar | ||||||
| COL6A2_chr21_46093112_46134801 | 46133686 | A | AGGATGAG others(40): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0009 | a0009c0032 | a0009c0032t0006 | a0009c0032t0006g0229 | 1 | 372 | 0.0027 | 47 | c.*41 others(58): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 3886 | chr21 | TogoVar | ||||||
| COL6A2_chr21_46093112_46134801 | 46133827 | G | GGGATGAG others(40): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0004 | a0003c0004t0011 | a0003c0004t0011g0193 | 1 | 372 | 0.0027 | 47 | c.*43 others(58): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4027 | chr21 | TogoVar | ||||||
| COL6A2_chr21_46093112_46137848 | 46133597 | A | AAGCTCAC others(40): Show |
downstream_gene_variant | MODIFIER | NA18948.hp1 | a0001 | a0001c0002 | a0001c0002t0013 | a0001c0002t0013g0314 | 1 | 364 | 0.0028 | 47 | c.*10 others(58): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 750 | chr21 | TogoVar | ||||||
| COL6A2_chr21_46093112_46137848 | 46133686 | A | AGGATGAG others(40): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0014 | a0014c0051 | a0014c0051t0001 | a0014c0051t0001g0225 | 1 | 364 | 0.0028 | 47 | c.*11 others(58): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 839 | chr21 | TogoVar | ||||||
| COL6A2_chr21_46093112_46137848 | 46133827 | G | GGGATGAG others(40): Show |
downstream_gene_variant | MODIFIER | HG02145.hp2 | a0003 | a0003c0010 | a0003c0010t0001 | a0003c0010t0001g0189 | 1 | 364 | 0.0028 | 47 | c.*12 others(58): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 980 | chr21 | TogoVar | ||||||
| COL8A1_chr3_99633594_99804217 | 99773838 | T | TATTATAT others(40): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0222 | 1 | 262 | 0.0038 | 47 | c.-3- others(64): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | chr3 | TogoVar | ||||||
| COL9A2_chr1_40295489_40322286 | 40318314 | A | ATATATAT others(40): Show |
upstream_gene_variant | MODIFIER | HG01243.hp2 | a0005 | a0005c0004 | a0005c0004t0003 | a0005c0004t0003g0081 | 1 | 438 | 0.0023 | 47 | c.-11 others(58): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | ||||||
| COL9A2_chr1_40295489_40322286 | 40318314 | A | ATATATAT others(40): Show |
upstream_gene_variant | MODIFIER | HG01074.hp1 HG02280.hp2 HG04228.hp1 others(1): Show |
a0002a0003a0005 | a0002c0002a0003c0005a0005c0004 | a0002c0002t0001a0003c0005t0001a0005c0004t0003 | a0002c0002t0001g0006a0002c0002t0001g0047a0003c0005t0001g0004others(1): Show | 4 | 438 | 0.0091 | 47 | c.-11 others(58): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 1029 | chr1 | TogoVar | ||||||
| COL9A3_chr20_62812050_62846159 | 62825130 | A | AGGGAGGG others(40): Show |
intron_variant | MODIFIER | HG02683.hp2 HG04199.hp2 NA18986.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0216a0001c0001t0001g0218a0001c0002t0001g0217 | 3 | 412 | 0.0073 | 47 | c.630 others(62): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| COPE_chr19_18894514_18924387 | 18902813 | G | GAAGAAAG others(40): Show |
intron_variant | MODIFIER | HG02723.hp2 HG02886.hp2 NA19240.hp1 |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0018a0003c0004t0001g0275 | 3 | 330 | 0.0091 | 47 | c.735 others(62): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | ||||||
| COPE_chr19_18894514_18924387 | 18902825 | G | GAAGGAAA others(40): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0038 | 1 | 330 | 0.0030 | 47 | c.735 others(62): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | ||||||
| COPE_chr19_18894514_18924387 | 18902825 | G | GAAGGAAG others(40): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 330 | 0.0030 | 47 | c.735 others(62): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | ||||||
| COQ2_chr4_83258824_83289798 | 83276070 | T | TTATATAA others(40): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0091 | 1 | 344 | 0.0029 | 47 | c.421 others(64): Show |
COQ2 | ENSG00000173085.15 | transcript | ENST00000647002.2 | protein_coding | 2/6 | chr4 | TogoVar | ||||||
| CORO1A_chr16_30178602_30194076 | 30190375 | A | ATAGTATA others(40): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 342 | 0.0029 | 47 | c.*14 others(58): Show |
CORO1A | ENSG00000102879.17 | transcript | ENST00000219150.10 | protein_coding | 1300 | chr16 | TogoVar | ||||||
| CPAMD8_chr19_16887951_17031810 | 16913451 | G | GCCATGTG others(40): Show |
intron_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0048 | 1 | 278 | 0.0036 | 47 | c.386 others(64): Show |
CPAMD8 | ENSG00000160111.15 | transcript | ENST00000443236.7 | protein_coding | 29/41 | chr19 | TogoVar | ||||||
| CPE_chr4_165374008_165503547 | 165461186 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0274 | 1 | 332 | 0.0030 | 47 | c.308 others(64): Show |
CPE | ENSG00000109472.14 | transcript | ENST00000402744.9 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CPNE7_chr16_89570758_89602246 | 89587808 | C | CCCCCGTG others(40): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0196 | 1 | 348 | 0.0029 | 47 | c.927 others(62): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CPNE8_chr12_38647203_38910591 | 38902228 | A | AGAGGAAA others(40): Show |
intron_variant | MODIFIER | HG01071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0106 | 1 | 342 | 0.0029 | 47 | c.98+ others(62): Show |
CPNE8 | ENSG00000139117.14 | transcript | ENST00000331366.10 | protein_coding | 1/19 | chr12 | TogoVar | ||||||
| CPT1C_chr19_49686116_49718731 | 49702007 | A | AATATATT others(40): Show |
intron_variant | MODIFIER | HG01099.hp1 HG01361.hp1 HG01952.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0225a0001c0001t0001g0226a0001c0001t0001g0227others(2): Show | 5 | 350 | 0.0143 | 47 | c.693 others(62): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CPXM2_chr10_123740639_123896807 | 123881225 | A | ACCCTCCC others(40): Show |
intron_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0226 | 1 | 288 | 0.0035 | 47 | c.305 others(62): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 1/13 | chr10 | TogoVar | ||||||
| CRACD_chr4_56044098_56335609 | 56183287 | A | AAATAAAA others(40): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0019 | a0019c0042 | a0019c0042t0006 | a0019c0042t0006g0153 | 1 | 250 | 0.0040 | 47 | c.-18 others(66): Show |
CRACD | ENSG00000109265.15 | transcript | ENST00000682029.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CRB2_chr9_123351197_123383753 | 123369048 | C | CTGTGACC others(40): Show |
intron_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0185 | 1 | 432 | 0.0023 | 47 | c.105 others(66): Show |
CRB2 | ENSG00000148204.12 | transcript | ENST00000373631.8 | protein_coding | 6/12 | chr9 | TogoVar | ||||||
| CRELD2_chr22_49913634_49932537 | 49926713 | C | CCCCCACC others(40): Show |
intron_variant | MODIFIER | HG06807.hp1 NA20805.hp2 |
a0001 | a0001c0001a0001c0018 | a0001c0001t0001a0001c0018t0002 | a0001c0001t0001g0074a0001c0018t0002g0175 | 2 | 324 | 0.0062 | 47 | c.101 others(64): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CRIP2_chr14_105469821_105485162 | 105474711 | C | CGGCCCCC others(40): Show |
upstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 316 | 0.0032 | 47 | c.-15 others(56): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 109 | chr14 | TogoVar | ||||||
| CRLF2_chrX_1185490_1217649 | 1191361 | C | CTTTCTTT others(40): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01123.hp2 HG01993.hp2 others(6): Show |
a0001a0002a0011others(2): Show | a0001c0001a0002c0005a0002c0040others(3): Show | a0001c0001t0001a0002c0005t0001a0002c0040t0001others(3): Show | a0001c0001t0001g0038a0001c0001t0001g0056a0001c0001t0001g0088others(6): Show | 9 | 167 | 0.0539 | 47 | c.853 others(62): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 7/7 | chrX | TogoVar | ||||||
| CRPPA_chr7_16082525_16426538 | 16342782 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG01256.hp2 | a0002 | a0002c0002 | a0002c0002t0076 | a0002c0002t0076g0222 | 1 | 290 | 0.0035 | 47 | c.684 others(66): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 3/9 | chr7 | TogoVar | ||||||
| CRPPA_chr7_16082525_16426538 | 16342782 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG01081.hp1 HG01928.hp2 HG03130.hp2 |
a0001 | a0001c0001 | a0001c0001t0021a0001c0001t0037a0001c0001t0086 | a0001c0001t0021g0137a0001c0001t0037g0020a0001c0001t0086g0018 | 3 | 290 | 0.0103 | 47 | c.684 others(66): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 3/9 | chr7 | TogoVar | ||||||
| CRPPA_chr7_16082525_16426538 | 16342782 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00741.hp1 HG01257.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0080others(1): Show | a0001c0001t0001g0070a0001c0001t0004g0074a0001c0001t0004g0135others(2): Show | 5 | 290 | 0.0172 | 47 | c.684 others(66): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 3/9 | chr7 | TogoVar | ||||||
| CRPPA_chr7_16082525_16426538 | 16342782 | A | AAAAAAAA others(40): Show |
intron_variant | MODIFIER | HG00280.hp2 HG01071.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0004a0002c0002t0064 | a0001c0001t0004g0107a0002c0002t0064g0238 | 2 | 290 | 0.0069 | 47 | c.684 others(66): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 3/9 | chr7 | TogoVar | ||||||
| CRX_chr19_47816937_47848324 | 47845961 | A | AGGTCTAC others(40): Show |
downstream_gene_variant | MODIFIER | NA18998.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 344 | 0.0029 | 47 | c.*59 others(58): Show |
CRX | ENSG00000105392.17 | transcript | ENST00000221996.12 | protein_coding | 2638 | chr19 | TogoVar | ||||||
| CRYBG1_chr6_106355717_106577017 | 106361970 | T | TTTCTTTC others(40): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02723.hp2 HG02976.hp1 others(1): Show |
a0007a0037a0061others(1): Show | a0007c0007a0037c0059a0061c0073others(1): Show | a0007c0007t0004a0037c0059t0002a0061c0073t0004others(1): Show | a0007c0007t0004g0109a0037c0059t0002g0115a0061c0073t0004g0238others(1): Show | 4 | 272 | 0.0147 | 47 | c.173 others(62): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 1/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CSH1_chr17_63889918_63901574 | 63898148 | C | CTCTTCTT others(40): Show |
upstream_gene_variant | MODIFIER | NA19002.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 428 | 0.0023 | 47 | c.-16 others(58): Show |
CSH1 | ENSG00000136488.15 | transcript | ENST00000316193.13 | protein_coding | 1575 | chr17 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 3448396 | A | AGGGAAGG others(40): Show |
intron_variant | MODIFIER | HG01071.hp2 HG01884.hp1 HG02055.hp2 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0043a0001c0045a0001c0046others(9): Show | a0001c0043t0031a0001c0045t0012a0001c0046t0073others(9): Show | a0001c0043t0031g0044a0001c0045t0012g0010a0001c0046t0073g0091others(9): Show | 12 | 126 | 0.0952 | 47 | c.156 others(68): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
| CSNK1G2_chr19_1936172_1986338 | 1967793 | C | CCTCCTCC others(40): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0344 | 1 | 382 | 0.0026 | 47 | c.-26 others(66): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
| CSNK1G2_chr19_1936172_1986338 | 1968111 | C | CGACCACC others(40): Show |
intron_variant | MODIFIER | HG02074.hp2 HG02083.hp1 HG02523.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0091a0001c0001t0001g0110a0001c0001t0001g0112others(1): Show | 4 | 382 | 0.0105 | 47 | c.-26 others(66): Show |
CSNK1G2 | ENSG00000133275.16 | transcript | ENST00000255641.13 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CSPP1_chr8_67059392_67201614 | 67159937 | C | CCTCCTTC others(40): Show |
intron_variant | MODIFIER | HG02738.hp1 HG03130.hp2 HG03540.hp2 others(4): Show |
a0002a0003a0005 | a0002c0002a0002c0004a0003c0003others(1): Show | a0002c0002t0002a0002c0004t0006a0003c0003t0001others(1): Show | a0002c0002t0002g0121a0002c0004t0006g0030a0003c0003t0001g0015others(4): Show | 7 | 158 | 0.0443 | 47 | c.253 others(64): Show |
CSPP1 | ENSG00000104218.16 | transcript | ENST00000678616.1 | protein_coding | 21/30 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |