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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0048 | 1 | 119 | 0.0084 | 18 | c.195 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG04115.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0153 | 1 | 119 | 0.0084 | 18 | c.195 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0171 | 1 | 119 | 0.0084 | 18 | c.195 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATATAT others(11): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01517.hp1 NA18975.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 a0001c0001t0002g0169 a0001c0001t0002g0170 others(1): Show |
4 | 122 | 0.0328 | 18 | c.195 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116534395 | A | ATATTTTT others(11): Show |
intron_variant | MODIFIER | HG03209.hp1 HG03492.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0119 a0001c0001t0002g0001 |
2 | 120 | 0.0167 | 18 | c.195 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116546697 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0076 | 1 | 148 | 0.0068 | 18 | c.196 others(37): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116555520 | G | GAAAGAAA others(11): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 333 | 0.0030 | 18 | c.196 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116555542 | G | GAGAGAGA others(11): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0172 | 1 | 171 | 0.0058 | 18 | c.196 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV1_chr7_116520036_116566179 | 116555542 | G | GAGAGAGA others(11): Show |
intron_variant | MODIFIER | NA18992.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 171 | 0.0058 | 18 | c.196 others(35): Show |
CAV1 | ENSG00000105974.13 | transcript | ENST00000341049.7 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CAV2_chr7_116494738_116513541 | 116498923 | A | AACACACA others(11): Show |
upstream_gene_variant | MODIFIER | HG00735.hp2 HG01175.hp1 HG02630.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0004a0002c0002t0022 | a0002c0002t0004g0004 a0002c0002t0004g0033 a0002c0002t0022g0004 |
4 | 71 | 0.0563 | 18 | c.-85 others(27): Show |
CAV2 | ENSG00000105971.15 | transcript | ENST00000222693.5 | protein_coding | 814 | chr7 | TogoVar | |||||||
CAV3_chr3_8728802_8751758 | 8746799 | T | TCTCACAC others(11): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG01884.hp1 HG02145.hp1 others(12): Show |
a0001 | a0001c0003a0001c0005 | a0001c0003t0003a0001c0005t0003 | a0001c0003t0003g0086 a0001c0003t0003g0092 a0001c0003t0003g0111 others(5): Show |
15 | 69 | 0.2174 | 18 | c.*93 others(27): Show |
CAV3 | ENSG00000182533.7 | transcript | ENST00000343849.3 | protein_coding | 42 | chr3 | TogoVar | |||||||
CAV3_chr3_8728802_8751758 | 8746799 | T | TCTCTCAC others(11): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0159 | 1 | 55 | 0.0182 | 18 | c.*93 others(27): Show |
CAV3 | ENSG00000182533.7 | transcript | ENST00000343849.3 | protein_coding | 42 | chr3 | TogoVar | |||||||
CAV3_chr3_8728802_8751758 | 8746804 | C | CACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG00733.hp2 HG01123.hp1 HG01515.hp2 others(3): Show |
a0001 | a0001c0003a0001c0007 | a0001c0003t0014a0001c0007t0005 | a0001c0003t0014g0061 a0001c0007t0005g0040 a0001c0007t0005g0077 others(2): Show |
6 | 474 | 0.0127 | 18 | c.*93 others(27): Show |
CAV3 | ENSG00000182533.7 | transcript | ENST00000343849.3 | protein_coding | 47 | chr3 | TogoVar | |||||||
CAVIN1_chr17_42397449_42428256 | 42405289 | G | GCTCGCCC others(11): Show |
conservative_inframe_insertion | MODERATE | HG02723.hp1 | a0003 | a0003c0011 | a0003c0011t0006 | a0003c0011t0006g0090 | 1 | 336 | 0.0030 | 18 | c.553 others(25): Show |
p.Glu others(31): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 2/2 | 729/3570 | 570/1173 | 190/390 | chr17 | TogoVar | |||
CAVIN1_chr17_42397449_42428256 | 42411207 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG00673.hp2 HG01255.hp1 HG01884.hp1 others(39): Show |
a0001 | a0001c0001a0001c0006a0001c0008 | a0001c0001t0002a0001c0001t0004a0001c0001t0009others(8): Show | a0001c0001t0002g0012 a0001c0001t0002g0030 a0001c0001t0002g0224 others(35): Show |
42 | 276 | 0.1522 | 18 | c.472 others(35): Show |
CAVIN1 | ENSG00000177469.13 | transcript | ENST00000357037.6 | protein_coding | 1/1 | chr17 | TogoVar | |||||||
CBFA2T2_chr20_33485096_33655030 | 33494243 | G | GTGTATAT others(11): Show |
intron_variant | MODIFIER | HG02155.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0057 | 1 | 99 | 0.0101 | 18 | c.34+ others(33): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T2_chr20_33485096_33655030 | 33494243 | G | GTGTGTAT others(11): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0056 | 1 | 99 | 0.0101 | 18 | c.34+ others(33): Show |
CBFA2T2 | ENSG00000078699.22 | transcript | ENST00000342704.11 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88882436 | T | TGTGGCTG others(11): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0113 | 1 | 280 | 0.0036 | 18 | c.120 others(35): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 8/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88888588 | T | TGGGGTGG others(11): Show |
intron_variant | MODIFIER | HG01346.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 270 | 0.0037 | 18 | c.712 others(35): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
CBFA2T3_chr16_88869858_88982207 | 88960046 | T | TAAAATAA others(11): Show |
intron_variant | MODIFIER | HG02109.hp2 HG02559.hp1 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0025a0001c0009t0007 | a0001c0001t0025g0098 a0001c0009t0007g0099 |
2 | 282 | 0.0071 | 18 | c.151 others(37): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CBFB_chr16_67024149_67106058 | 67055357 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0056 | 1 | 108 | 0.0093 | 18 | c.283 others(37): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67066393 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG03041.hp1 HG03130.hp1 NA19056.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0058 a0001c0002t0003g0008 a0001c0002t0003g0045 others(2): Show |
5 | 54 | 0.0926 | 18 | c.283 others(33): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67074451 | C | CAGCTCAC others(11): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0111 | 1 | 210 | 0.0048 | 18 | c.399 others(35): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBFB_chr16_67024149_67106058 | 67092698 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0026 | 1 | 11 | 0.0909 | 18 | c.496 others(35): Show |
CBFB | ENSG00000067955.15 | transcript | ENST00000412916.7 | protein_coding | 5/5 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBLB_chr3_105650461_105874012 | 105665434 | T | TATATACA others(11): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0012 | a0001c0012t0002 | a0001c0012t0002g0278 | 1 | 367 | 0.0027 | 18 | c.268 others(37): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 18/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105754527 | G | GAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0187 | 1 | 369 | 0.0027 | 18 | c.567 others(35): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4/18 | chr3 | TogoVar | |||||||
CBLB_chr3_105650461_105874012 | 105754529 | G | GAGAGAGA others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0184 | 1 | 237 | 0.0042 | 18 | c.567 others(35): Show |
CBLB | ENSG00000114423.23 | transcript | ENST00000394030.8 | protein_coding | 4/18 | chr3 | TogoVar | |||||||
CBLIF_chr11_59824273_59850499 | 59827460 | G | GACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 HG01993.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0077 a0002c0002t0001g0195 |
2 | 25 | 0.0800 | 18 | c.*20 others(29): Show |
CBLIF | ENSG00000134812.8 | transcript | ENST00000257248.3 | protein_coding | 1812 | chr11 | TogoVar | |||||||
CBLIF_chr11_59824273_59850499 | 59827486 | C | CACACACA others(11): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 HG02896.hp1 HG03139.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0189 a0002c0002t0001g0192 a0002c0002t0001g0193 |
3 | 331 | 0.0091 | 18 | c.*19 others(29): Show |
CBLIF | ENSG00000134812.8 | transcript | ENST00000257248.3 | protein_coding | 1786 | chr11 | TogoVar | |||||||
CBLL2_chrX_22267913_22279461 | 22271960 | G | GGTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG01981.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 5 | 0.2000 | 18 | c.-10 others(29): Show |
CBLL2 | ENSG00000175809.6 | transcript | ENST00000323684.4 | protein_coding | 952 | chrX | TogoVar | |||||||
CBL_chr11_119201339_119313149 | 119206289 | C | CCGGTGGC others(11): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0135 a0001c0001t0009g0136 |
2 | 270 | 0.0074 | 18 | c.-12 others(27): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 49 | chr11 | TogoVar | |||||||
CBL_chr11_119201339_119313149 | 119244581 | A | ATTTTTTT others(11): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00408.hp2 HG00639.hp2 others(44): Show |
a0001a0002a0006 | a0001c0001a0002c0003a0006c0010 | a0001c0001t0001a0001c0001t0009a0001c0001t0010others(9): Show | a0001c0001t0001g0013 a0001c0001t0001g0142 a0001c0001t0001g0158 others(44): Show |
47 | 246 | 0.1911 | 18 | c.443 others(37): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119277239 | G | GCACACAC others(11): Show |
intron_variant | MODIFIER | HG02809.hp2 HG03195.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0264 a0001c0001t0002g0267 |
2 | 125 | 0.0160 | 18 | c.100 others(35): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119277241 | G | GCACACAC others(11): Show |
intron_variant | MODIFIER | HG01515.hp2 HG02970.hp2 HG03130.hp1 |
a0001a0004 | a0001c0001a0004c0009 | a0001c0001t0005a0004c0009t0002 | a0001c0001t0005g0243 a0001c0001t0005g0244 a0004c0009t0002g0305 |
3 | 88 | 0.0341 | 18 | c.100 others(35): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBL_chr11_119201339_119313149 | 119283625 | C | CTTTTTTT others(11): Show |
intron_variant | MODIFIER | HG03710.hp2 NA19063.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 a0001c0001t0001g0173 |
2 | 33 | 0.0606 | 18 | c.143 others(37): Show |
CBL | ENSG00000110395.8 | transcript | ENST00000264033.6 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CBR3_chr21_36130079_36151562 | 36142431 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02257.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0090 | 1 | 246 | 0.0041 | 18 | c.398 others(35): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
CBR3_chr21_36130079_36151562 | 36146919 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0031 | 1 | 98 | 0.0102 | 18 | c.*40 others(27): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 358 | chr21 | TogoVar | |||||||
CBR3_chr21_36130079_36151562 | 36146921 | C | CTTTTTTT others(11): Show |
downstream_gene_variant | MODIFIER | HG01346.hp2 | a0003 | a0003c0008 | a0003c0008t0002 | a0003c0008t0002g0154 | 1 | 87 | 0.0115 | 18 | c.*40 others(27): Show |
CBR3 | ENSG00000159231.6 | transcript | ENST00000290354.6 | protein_coding | 360 | chr21 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48073824 | C | CAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG01891.hp2 HG01981.hp1 HG02155.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0007 | a0001c0001t0002g0014 a0001c0001t0002g0069 a0001c0001t0002g0073 others(13): Show |
17 | 43 | 0.3953 | 18 | c.413 others(35): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 4/4 | chr17 | TogoVar | |||||||
CBX1_chr17_48065059_48106478 | 48105324 | C | CTTTTTTT others(11): Show |
upstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0007 a0001c0001t0005g0118 a0001c0001t0005g0120 |
3 | 51 | 0.0588 | 18 | c.-41 others(29): Show |
CBX1 | ENSG00000108468.15 | transcript | ENST00000225603.9 | protein_coding | 3847 | chr17 | TogoVar | |||||||
CBY1_chr22_38651638_38678850 | 38674839 | C | CAAAAAAA others(11): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 HG02486.hp2 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 a0001c0001t0001g0140 |
3 | 131 | 0.0229 | 18 | c.*16 others(29): Show |
CBY1 | ENSG00000100211.12 | transcript | ENST00000216029.8 | protein_coding | 990 | chr22 | TogoVar | |||||||
CBY3_chr5_179673560_179686034 | 179676225 | T | TACACACA others(11): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020 | 1 | 90 | 0.0111 | 18 | c.*23 others(29): Show |
CBY3 | ENSG00000204659.5 | transcript | ENST00000376974.5 | protein_coding | 2334 | chr5 | TogoVar | |||||||
CC2D2A_chr4_15464882_15606552 | 15500101 | G | GTATATAT others(11): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0168 | 1 | 288 | 0.0035 | 18 | c.248 others(35): Show |
CC2D2A | ENSG00000048342.18 | transcript | ENST00000424120.6 | protein_coding | 4/36 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95926840 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG03453.hp1 | a0027 | a0027c0038 | a0027c0038t0001 | a0027c0038t0001g0006 | 1 | 270 | 0.0037 | 18 | c.241 others(33): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 5/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95926844 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0004 | a0004c0023 | a0004c0023t0007 | a0004c0023t0007g0172 | 1 | 292 | 0.0034 | 18 | c.241 others(33): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 5/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95926846 | G | GTGTGTGT others(11): Show |
intron_variant | MODIFIER | NA19003.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0064 | 1 | 276 | 0.0036 | 18 | c.241 others(33): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 5/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 95947082 | A | AAAAAAAA others(11): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0208 | 1 | 277 | 0.0036 | 18 | c.802 others(35): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 9/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 96003586 | T | TTGTGTGT others(11): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0032 | a0032c0031 | a0032c0031t0001 | a0032c0031t0001g0122 | 1 | 19 | 0.0526 | 18 | c.285 others(35): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 24/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 96025168 | T | TAAAAAAA others(11): Show |
intron_variant | MODIFIER | NA18988.hp1 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0156 | 1 | 306 | 0.0033 | 18 | c.394 others(35): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CC2D2B_chr10_95902975_96038745 | 96025168 | T | TATATAAA others(11): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 | 1 | 306 | 0.0033 | 18 | c.394 others(35): Show |
CC2D2B | ENSG00000188649.16 | transcript | ENST00000646931.3 | protein_coding | 33/34 | INFO_REALIGN_3_PRIME | chr10 | TogoVar |