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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPQ_chr8_96640242_97148501 | 96777746 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG01517.hp1 HG01975.hp1 HG01978.hp1 others(7): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0027 a0001c0001t0001g0032 a0001c0001t0001g0057 others(7): Show |
10 | 118 | 0.0847 | -21 | c.-34 others(38): Show |
CPQ | ENSG00000104324.16 | transcript | ENST00000220763.10 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
CPSF4_chr7_99433943_99462373 | 99446771 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0077 | 1 | 96 | 0.0104 | -21 | c.155 others(38): Show |
CPSF4 | ENSG00000160917.15 | transcript | ENST00000292476.10 | protein_coding | 2/7 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CPXM2_chr10_123740639_123896807 | 123772182 | CCACCTCC others(14): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0010 | a0010c0035 | a0010c0035t0015 | a0010c0035t0015g0019 | 1 | 286 | 0.0035 | -21 | c.979 others(38): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 7/13 | chr10 | TogoVar | |||||||
CPXM2_chr10_123740639_123896807 | 123772255 | GGTTGTGG others(14): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(254): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0002a0001c0003others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(57): Show | a0001c0001t0001g0025 a0001c0001t0001g0037 a0001c0001t0001g0041 others(254): Show |
257 | 286 | 0.8986 | -21 | c.979 others(38): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 7/13 | chr10 | TogoVar | |||||||
CPXM2_chr10_123740639_123896807 | 123772418 | GCCCTGGG others(14): Show |
G | intron_variant | MODIFIER | HG01516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0228 | 1 | 285 | 0.0035 | -21 | c.979 others(38): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 7/13 | chr10 | TogoVar | |||||||
CPXM2_chr10_123740639_123896807 | 123772937 | CACCTCCC others(14): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0080 | 1 | 286 | 0.0035 | -21 | c.979 others(38): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 7/13 | chr10 | TogoVar | |||||||
CPXM2_chr10_123740639_123896807 | 123773298 | TTCCCTGG others(14): Show |
T | intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 286 | 0.0035 | -21 | c.979 others(38): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 7/13 | chr10 | TogoVar | |||||||
CRB1_chr1_197263252_197483455 | 197354821 | CCCCACCC others(14): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00741.hp1 HG01074.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 a0001c0001t0001g0017 a0001c0001t0001g0073 others(3): Show |
6 | 181 | 0.0331 | -21 | c.989 others(38): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRB1_chr1_197263252_197483455 | 197354835 | CCCGCCCA others(14): Show |
C | intron_variant | MODIFIER | HG02280.hp2 HG02630.hp2 HG03486.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0062 a0001c0001t0001g0104 a0001c0001t0001g0167 others(3): Show |
6 | 182 | 0.0330 | -21 | c.989 others(38): Show |
CRB1 | ENSG00000134376.17 | transcript | ENST00000367400.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRB3_chr19_6459271_6472221 | 6461233 | GTTTTTTT others(14): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0012 | 1 | 16 | 0.0625 | -21 | c.-32 others(32): Show |
CRB3 | ENSG00000130545.16 | transcript | ENST00000600229.6 | protein_coding | 3037 | chr19 | TogoVar | |||||||
CREB5_chr7_28407518_28830894 | 28437359 | CTGTCATG others(14): Show |
C | intron_variant | MODIFIER | HG00558.hp2 HG02015.hp1 HG02015.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(4): Show | a0001c0001t0001g0097 a0001c0001t0001g0099 a0001c0001t0001g0107 others(8): Show |
11 | 196 | 0.0561 | -21 | c.3+2 others(36): Show |
CREB5 | ENSG00000146592.17 | transcript | ENST00000357727.7 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CREBBP_chr16_3720054_3885713 | 3849378 | CGTGTGTG others(14): Show |
C | intron_variant | MODIFIER | NA19057.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0048 | 1 | 212 | 0.0047 | -21 | c.798 others(36): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849423 | GTGTGTGT others(14): Show |
G | intron_variant | MODIFIER | NA18970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0014 | 1 | 280 | 0.0036 | -21 | c.798 others(36): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849427 | GTGTGTGT others(14): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG03834.hp2 NA18612.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0039 | a0001c0001t0001g0183 a0001c0001t0002g0055 a0001c0001t0039g0031 |
3 | 274 | 0.0109 | -21 | c.798 others(36): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849431 | GTGTGTGT others(14): Show |
G | intron_variant | MODIFIER | HG01175.hp1 HG01496.hp1 HG02040.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0148 a0001c0001t0001g0179 a0001c0001t0002g0056 others(3): Show |
6 | 273 | 0.0220 | -21 | c.798 others(36): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBBP_chr16_3720054_3885713 | 3849439 | GTGTGTGT others(14): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG02135.hp2 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0026 | a0001c0001t0005g0275 a0001c0001t0026g0281 |
2 | 265 | 0.0075 | -21 | c.798 others(36): Show |
CREBBP | ENSG00000005339.15 | transcript | ENST00000262367.10 | protein_coding | 2/30 | chr16 | TogoVar | |||||||
CREBL2_chr12_12606876_12650108 | 12617643 | CTTTTTTT others(14): Show |
C | intron_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 31 | 0.0323 | -21 | c.15+ others(36): Show |
CREBL2 | ENSG00000111269.3 | transcript | ENST00000228865.3 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CREBRF_chr5_173051352_173144284 | 173082908 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0079 | 1 | 14 | 0.0714 | -21 | c.9+2 others(34): Show |
CREBRF | ENSG00000164463.12 | transcript | ENST00000296953.6 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CREG1_chr1_167536013_167558762 | 167540386 | TAGCAGCA others(14): Show |
T | downstream_gene_variant | MODIFIER | HG00609.hp2 HG01243.hp2 HG01433.hp2 others(24): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0009 a0001c0001t0001g0117 a0001c0001t0002g0003 others(6): Show |
27 | 56 | 0.4821 | -21 | c.*18 others(32): Show |
CREG1 | ENSG00000143162.9 | transcript | ENST00000370509.5 | protein_coding | 626 | chr1 | TogoVar | |||||||
CREG2_chr2_101340550_101392503 | 101390744 | GATTATTA others(14): Show |
G | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00621.hp2 others(102): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0006 a0001c0001t0001g0008 a0001c0001t0001g0020 others(67): Show |
105 | 170 | 0.6176 | -21 | c.-33 others(32): Show |
CREG2 | ENSG00000175874.10 | transcript | ENST00000324768.6 | protein_coding | 3242 | chr2 | TogoVar | |||||||
CRELD2_chr22_49913634_49932537 | 49926692 | TCCCCTCT others(14): Show |
T | intron_variant | MODIFIER | HG01243.hp1 HG02055.hp2 HG02622.hp2 others(4): Show |
a0001a0002a0004 | a0001c0003a0002c0002a0004c0006others(1): Show | a0001c0003t0002a0002c0002t0005a0004c0006t0010others(1): Show | a0001c0003t0002g0116 a0001c0003t0002g0117 a0001c0003t0002g0118 others(4): Show |
7 | 320 | 0.0219 | -21 | c.101 others(38): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CREM_chr10_35121846_35217953 | 35217829 | CTTTTTTT others(14): Show |
C | downstream_gene_variant | MODIFIER | HG00738.hp2 HG01109.hp1 HG02257.hp2 others(8): Show |
a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0036 a0001c0002t0004g0108 a0001c0002t0004g0110 others(8): Show |
11 | 51 | 0.2157 | -21 | c.*64 others(32): Show |
CREM | ENSG00000095794.21 | transcript | ENST00000685392.1 | protein_coding | 4877 | chr10 | TogoVar | |||||||
CRHR1_chr17_45779320_45840828 | 45836627 | GCTGGGGT others(14): Show |
G | downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 300 | 0.0033 | -21 | c.*18 others(32): Show |
CRHR1 | ENSG00000120088.16 | transcript | ENST00000314537.10 | protein_coding | 800 | chr17 | TogoVar | |||||||
CRIM1_chr2_36350778_36556135 | 36534673 | GGAAGGAA others(14): Show |
G | intron_variant | MODIFIER | HG02717.hp1 HG03017.hp1 HG03041.hp1 others(2): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003 | a0001c0001t0068a0001c0001t0074a0001c0002t0069others(2): Show | a0001c0001t0068g0237 a0001c0001t0074g0238 a0001c0002t0069g0039 others(2): Show |
5 | 322 | 0.0155 | -21 | c.242 others(40): Show |
CRIM1 | ENSG00000150938.10 | transcript | ENST00000280527.7 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CRIM1_chr2_36350778_36556135 | 36540507 | AGTCAAGG others(14): Show |
A | intron_variant | MODIFIER | HG03017.hp1 HG04199.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0023a0002c0003t0023 | a0001c0001t0023g0164 a0002c0003t0023g0247 |
2 | 322 | 0.0062 | -21 | c.262 others(40): Show |
CRIM1 | ENSG00000150938.10 | transcript | ENST00000280527.7 | protein_coding | 14/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CRISP2_chr6_49687359_49718543 | 49702139 | CTATATAT others(14): Show |
C | intron_variant | MODIFIER | HG06807.hp2 NA18747.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0121 a0001c0001t0012g0199 |
2 | 3 | 0.6667 | -21 | c.67- others(36): Show |
CRISP2 | ENSG00000124490.14 | transcript | ENST00000339139.5 | protein_coding | 4/9 | chr6 | TogoVar | |||||||
CRISPLD2_chr16_84814985_84914508 | 84826796 | GGGCCTGA others(14): Show |
G | intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0146 | 1 | 378 | 0.0026 | -21 | c.-75 others(38): Show |
CRISPLD2 | ENSG00000103196.12 | transcript | ENST00000262424.10 | protein_coding | 1/14 | chr16 | TogoVar | |||||||
CRK_chr17_1415693_1461232 | 1427030 | CAAAAAAA others(14): Show |
C | intron_variant | MODIFIER | HG00558.hp1 HG01069.hp1 HG01099.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005a0001c0001t0028others(1): Show | a0001c0001t0003g0298 a0001c0001t0003g0319 a0001c0001t0005g0343 others(13): Show |
16 | 49 | 0.3265 | -21 | c.778 others(38): Show |
CRK | ENSG00000167193.8 | transcript | ENST00000300574.3 | protein_coding | 2/2 | chr17 | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1192703 | TTTTCTTT others(14): Show |
T | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0046 | 1 | 163 | 0.0061 | -21 | c.852 others(36): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 7/7 | chrX | TogoVar | |||||||
CRLF2_chrX_1185490_1217649 | 1195796 | TTATATAT others(14): Show |
T | intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0158 | 1 | 165 | 0.0061 | -21 | c.767 others(36): Show |
CRLF2 | ENSG00000205755.13 | transcript | ENST00000400841.8 | protein_coding | 6/7 | chrX | TogoVar | |||||||
CRMP1_chr4_5815764_5898086 | 5846757 | ATTTTTTT others(14): Show |
A | intron_variant | MODIFIER | NA19077.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0253 | 1 | 31 | 0.0323 | -21 | c.963 others(38): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 6/13 | chr4 | TogoVar | |||||||
CRMP1_chr4_5815764_5898086 | 5865884 | CAGCCAGA others(14): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0002 | a0002c0017 | a0002c0017t0001 | a0002c0017t0001g0031 | 1 | 312 | 0.0032 | -21 | c.470 others(36): Show |
CRMP1 | ENSG00000072832.15 | transcript | ENST00000324989.12 | protein_coding | 2/13 | chr4 | TogoVar | |||||||
CRNKL1_chr20_20029368_20057466 | 20042411 | CATTGGCA others(14): Show |
C | conservative_inframe_deletion | MODERATE | NA19059.hp2 | a0007 | a0007c0008 | a0007c0008t0001 | a0007c0008t0001g0071 | 1 | 426 | 0.0023 | -21 | c.105 others(30): Show |
p.Tyr others(13): Show |
CRNKL1 | ENSG00000101343.15 | transcript | ENST00000536226.2 | protein_coding | 8/14 | 1201/4015 | 1057/2064 | 353/687 | chr20 | TogoVar | |||
CROCC2_chr2_240901336_240998311 | 240984723 | TCAATCCA others(14): Show |
T | intron_variant | MODIFIER | NA18967.hp1 NA18994.hp1 NA19004.hp2 others(1): Show |
a0002a0003a0011 | a0002c0002a0002c0011a0003c0003others(1): Show | a0002c0002t0001a0002c0011t0002a0003c0003t0001others(1): Show | a0002c0002t0001g0141 a0002c0011t0002g0337 a0003c0003t0001g0054 others(1): Show |
4 | 348 | 0.0115 | -21 | c.455 others(40): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240984953 | ACACACAC others(14): Show |
A | intron_variant | MODIFIER | HG00597.hp1 HG02027.hp2 HG03704.hp2 others(4): Show |
a0002a0003a0007others(1): Show | a0002c0002a0003c0003a0007c0007others(1): Show | a0002c0002t0001a0003c0003t0001a0003c0003t0002others(2): Show | a0002c0002t0001g0075 a0002c0002t0001g0123 a0003c0003t0001g0057 others(4): Show |
7 | 348 | 0.0201 | -21 | c.455 others(40): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 28/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CRPPA_chr7_16082525_16426538 | 16231609 | TACACAGT others(14): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG02056.hp2 NA18747.hp1 others(13): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0009 | a0001c0001t0001a0001c0001t0006a0001c0001t0069others(5): Show | a0001c0001t0001g0053 a0001c0001t0001g0073 a0001c0001t0001g0087 others(13): Show |
16 | 288 | 0.0556 | -21 | c.112 others(42): Show |
CRPPA | ENSG00000214960.11 | transcript | ENST00000407010.7 | protein_coding | 8/9 | chr7 | TogoVar | |||||||
CRTAM_chr11_122833500_122877643 | 122861404 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | NA18953.hp2 NA18963.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0002a0003c0003t0003 | a0001c0001t0002g0264 a0003c0003t0003g0284 |
2 | 423 | 0.0047 | -21 | c.653 others(38): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CRTAM_chr11_122833500_122877643 | 122861408 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG02572.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0253 | 1 | 388 | 0.0026 | -21 | c.653 others(38): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CRTAM_chr11_122833500_122877643 | 122861410 | ATATATAT others(14): Show |
A | intron_variant | MODIFIER | HG03834.hp2 HG04115.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0143 a0001c0001t0002g0144 |
2 | 332 | 0.0060 | -21 | c.653 others(38): Show |
CRTAM | ENSG00000109943.9 | transcript | ENST00000227348.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CRY1_chr12_106986364_107098549 | 107093940 | CGCTGCTC others(14): Show |
C | upstream_gene_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0228 | 1 | 318 | 0.0031 | -21 | c.-10 others(31): Show |
CRY1 | ENSG00000008405.12 | transcript | ENST00000008527.10 | protein_coding | 392 | chr12 | TogoVar | |||||||
CRYAA_chr21_43164008_43177805 | 43176098 | GCGGGACA others(14): Show |
G | downstream_gene_variant | MODIFIER | HG00609.hp2 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0003 | 1 | 40 | 0.0250 | -21 | c.*38 others(32): Show |
CRYAA | ENSG00000160202.7 | transcript | ENST00000291554.6 | protein_coding | 3294 | chr21 | TogoVar | |||||||
CRYBB2_chr22_25214639_25236869 | 25229031 | CGTGCGTG others(14): Show |
C | intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0116 | 1 | 416 | 0.0024 | -21 | c.307 others(36): Show |
CRYBB2 | ENSG00000244752.3 | transcript | ENST00000398215.3 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRYBG2_chr1_26316865_26359130 | 26317544 | ACAAACTC others(14): Show |
A | downstream_gene_variant | MODIFIER | HG00544.hp2 HG00639.hp1 HG00733.hp2 others(67): Show |
a0001a0002a0003others(6): Show | a0001c0002a0001c0003a0001c0012others(12): Show | a0001c0002t0001a0001c0003t0001a0001c0012t0001others(12): Show | a0001c0002t0001g0034 a0001c0002t0001g0264 a0001c0002t0001g0299 others(59): Show |
70 | 374 | 0.1872 | -21 | c.*44 others(32): Show |
CRYBG2 | ENSG00000176092.17 | transcript | ENST00000308182.10 | protein_coding | 4320 | chr1 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20502986 | GCCGGAAG others(14): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01891.hp1 HG02145.hp1 others(4): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001a0001c0003t0002 | a0001c0001t0001g0087 a0001c0001t0001g0232 a0001c0003t0001g0005 others(4): Show |
7 | 248 | 0.0282 | -21 | c.149 others(38): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
CRYL1_chr13_20398669_20530857 | 20508855 | AAAAAAAA others(14): Show |
A | intron_variant | MODIFIER | HG02630.hp1 NA19240.hp2 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0083 a0001c0002t0002g0072 |
2 | 248 | 0.0081 | -21 | c.149 others(38): Show |
CRYL1 | ENSG00000165475.15 | transcript | ENST00000298248.12 | protein_coding | 2/7 | chr13 | TogoVar | |||||||
CRYZL1_chr21_33584341_33646741 | 33590439 | CGGAGTTT others(14): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(250): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0004 a0001c0001t0001g0008 a0001c0001t0001g0009 others(246): Show |
253 | 358 | 0.7067 | -21 | c.951 others(36): Show |
CRYZL1 | ENSG00000205758.12 | transcript | ENST00000381554.8 | protein_coding | 12/12 | chr21 | TogoVar | |||||||
CSE1L_chr20_49041312_49101949 | 49098322 | TTTGTTGT others(14): Show |
T | downstream_gene_variant | MODIFIER | HG00673.hp2 HG00738.hp2 HG01934.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 a0001c0001t0001g0244 a0001c0001t0001g0245 others(30): Show |
33 | 47 | 0.7021 | -21 | c.*18 others(32): Show |
CSE1L | ENSG00000124207.17 | transcript | ENST00000262982.3 | protein_coding | 1374 | chr20 | TogoVar | |||||||
CSGALNACT1_chr8_19399161_19762277 | 19682427 | CAGCAAAT others(14): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00639.hp2 HG01069.hp2 others(17): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0006a0001c0002t0002others(13): Show | a0001c0001t0001g0159 a0001c0001t0001g0160 a0001c0001t0006g0152 others(17): Show |
20 | 236 | 0.0847 | -21 | c.-39 others(42): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3242794 | AAAGGGGT others(14): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG00423.hp1 HG00438.hp1 others(52): Show |
a0001a0002a0004others(17): Show | a0001c0002a0001c0003a0001c0004others(50): Show | a0001c0002t0061a0001c0003t0008a0001c0003t0011others(52): Show | a0001c0002t0061g0069 a0001c0003t0008g0053 a0001c0003t0011g0026 others(52): Show |
55 | 126 | 0.4365 | -21 | c.415 others(42): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 26/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3304593 | TTAAATTT others(14): Show |
T | intron_variant | MODIFIER | NA18906.hp1 | a0002 | a0002c0032 | a0002c0032t0053 | a0002c0032t0053g0061 | 1 | 126 | 0.0079 | -21 | c.395 others(40): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 25/69 | chr8 | TogoVar |