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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CECR2_chr22_17364460_17563151 | 17404364 | CTTTCTTT others(3): Show |
C | intron_variant | MODIFIER | HG01243.hp2 HG01891.hp1 HG02622.hp2 others(7): Show |
a0001a0004a0010 | a0001c0001a0001c0009a0004c0004others(1): Show | a0001c0001t0006a0001c0001t0009a0001c0001t0020others(5): Show | a0001c0001t0006g0003 a0001c0001t0009g0134 a0001c0001t0009g0135 others(7): Show |
10 | 324 | 0.0309 | -10 | c.126 others(29): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17405429 | GATAAGAT others(3): Show |
G | intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0316 | 1 | 324 | 0.0031 | -10 | c.126 others(29): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17405639 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0103 | 1 | 324 | 0.0031 | -10 | c.126 others(29): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17480419 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02109.hp1 | a0011 | a0011c0024 | a0011c0024t0070 | a0011c0024t0070g0194 | 1 | 324 | 0.0031 | -10 | c.221 others(27): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17482115 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01255.hp1 HG02257.hp1 HG02965.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0008a0001c0009others(1): Show | a0001c0001t0022a0001c0001t0028a0001c0001t0076others(5): Show | a0001c0001t0022g0309 a0001c0001t0028g0196 a0001c0001t0076g0287 others(5): Show |
8 | 324 | 0.0247 | -10 | c.221 others(27): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 2/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17516599 | GTGTTTTG others(3): Show |
G | intron_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0008 | 1 | 324 | 0.0031 | -10 | c.954 others(27): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17523755 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00642.hp1 HG01109.hp2 HG02145.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(7): Show | a0001c0001t0002g0234 a0001c0001t0003g0161 a0001c0001t0004g0254 others(8): Show |
11 | 324 | 0.0340 | -10 | c.955 others(25): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 8/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CECR2_chr22_17364460_17563151 | 17525285 | CCAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG02257.hp2 HG02258.hp1 HG02559.hp2 others(5): Show |
a0004 | a0004c0004 | a0004c0004t0006a0004c0004t0012a0004c0004t0017others(3): Show | a0004c0004t0006g0197 a0004c0004t0006g0268 a0004c0004t0012g0144 others(5): Show |
8 | 324 | 0.0247 | -10 | c.110 others(29): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | chr22 | TogoVar | |||||||
CECR2_chr22_17364460_17563151 | 17532700 | CTTTTTTT others(3): Show |
C | intron_variant | MODIFIER | HG01192.hp2 HG02717.hp1 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0015 | a0001c0001t0010g0040 a0001c0001t0015g0262 a0001c0001t0015g0288 |
3 | 324 | 0.0093 | -10 | c.110 others(29): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CELA2A_chr1_15451732_15477091 | 15474609 | CTTTTTTT others(3): Show |
C | downstream_gene_variant | MODIFIER | HG01069.hp1 HG01071.hp2 HG01074.hp1 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0017 a0001c0002t0001g0023 a0001c0002t0001g0234 others(1): Show |
8 | 430 | 0.0186 | -10 | c.*26 others(21): Show |
CELA2A | ENSG00000142615.8 | transcript | ENST00000359621.5 | protein_coding | 2519 | chr1 | TogoVar | |||||||
CELA2B_chr1_15471104_15496395 | 15474609 | CTTTTTTT others(3): Show |
C | upstream_gene_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG01074.hp1 others(5): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0005c0010t0001 | a0001c0001t0001g0017 a0001c0001t0001g0178 a0001c0001t0001g0179 others(2): Show |
8 | 414 | 0.0193 | -10 | c.-15 others(21): Show |
CELA2B | ENSG00000215704.10 | transcript | ENST00000375910.8 | protein_coding | 1494 | chr1 | TogoVar | |||||||
CELA3A_chr1_21996657_22017542 | 22010808 | CCAGGTGG others(3): Show |
C | intron_variant | MODIFIER | HG03704.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0099 | 1 | 419 | 0.0024 | -10 | c.795 others(25): Show |
CELA3A | ENSG00000142789.20 | transcript | ENST00000290122.8 | protein_coding | 7/7 | chr1 | TogoVar | |||||||
CELA3A_chr1_21996657_22017542 | 22012166 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0119 | 1 | 419 | 0.0024 | -10 | c.796 others(25): Show |
CELA3A | ENSG00000142789.20 | transcript | ENST00000290122.8 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CELF1_chr11_47460937_47558132 | 47517260 | GAAAAAAA others(3): Show |
G | intron_variant | MODIFIER | HG00408.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0296 | 1 | 340 | 0.0029 | -10 | c.-15 others(31): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
CELF2_chr10_11012872_11341675 | 11118060 | AATTAAAA others(3): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp2 HG01258.hp1 others(19): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(12): Show | a0001c0001t0001g0109 a0001c0001t0001g0123 a0001c0001t0001g0175 others(19): Show |
22 | 194 | 0.1134 | -10 | c.75- others(27): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11190775 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0041 | 1 | 194 | 0.0052 | -10 | c.271 others(29): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11202901 | ATCTCTCT others(3): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG02897.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0005a0001c0001t0017others(3): Show | a0001c0001t0003g0007 a0001c0001t0005g0006 a0001c0001t0017g0004 others(3): Show |
6 | 194 | 0.0309 | -10 | c.272 others(29): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11202943 | CTCTCTCT others(3): Show |
C | intron_variant | MODIFIER | HG01099.hp2 HG01109.hp2 HG01358.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0031a0001c0002t0001a0001c0002t0002others(4): Show | a0001c0001t0031g0145 a0001c0002t0001g0167 a0001c0002t0002g0068 others(4): Show |
7 | 194 | 0.0361 | -10 | c.272 others(29): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11202945 | CTCTCTCT others(3): Show |
C | intron_variant | MODIFIER | HG00280.hp1 HG01175.hp1 HG01346.hp2 others(6): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(4): Show | a0001c0001t0001g0161 a0001c0001t0004g0138 a0001c0001t0006g0117 others(6): Show |
9 | 194 | 0.0464 | -10 | c.272 others(29): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11211809 | AGAGAGTG others(3): Show |
A | intron_variant | MODIFIER | HG01978.hp2 HG02965.hp2 HG03831.hp2 |
a0001 | a0001c0002a0001c0003a0001c0004 | a0001c0002t0008a0001c0003t0003a0001c0004t0007 | a0001c0002t0008g0028 a0001c0003t0003g0137 a0001c0004t0007g0059 |
3 | 194 | 0.0155 | -10 | c.272 others(27): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11226600 | CCACACAC others(3): Show |
C | intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0002 | a0001c0002t0033 | a0001c0002t0033g0001 | 1 | 194 | 0.0052 | -10 | c.354 others(27): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11285826 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(51): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(20): Show | a0001c0001t0001g0108 a0001c0001t0001g0114 a0001c0001t0001g0134 others(51): Show |
54 | 194 | 0.2784 | -10 | c.842 others(27): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF2_chr10_11012872_11341675 | 11285869 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG02109.hp2 HG02145.hp1 HG02280.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0002t0003a0001c0003t0009others(3): Show | a0001c0001t0001g0123 a0001c0002t0003g0048 a0001c0003t0009g0043 others(3): Show |
6 | 194 | 0.0309 | -10 | c.842 others(27): Show |
CELF2 | ENSG00000048740.19 | transcript | ENST00000633077.2 | protein_coding | 8/12 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
CELF4_chr18_37238040_37570798 | 37337918 | GACCCCCG others(3): Show |
G | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0015 | 1 | 184 | 0.0054 | -10 | c.370 others(29): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
CELF4_chr18_37238040_37570798 | 37470836 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG02683.hp2 HG02897.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0009a0001c0001t0028 | a0001c0001t0002g0109 a0001c0001t0009g0046 a0001c0001t0028g0027 |
3 | 184 | 0.0163 | -10 | c.369 others(29): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
CELF4_chr18_37238040_37570798 | 37470890 | CAGAGAGA others(3): Show |
C | intron_variant | MODIFIER | HG02922.hp2 NA19240.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0038 | a0001c0001t0004g0001 a0001c0001t0038g0170 |
2 | 184 | 0.0109 | -10 | c.369 others(29): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 2/12 | chr18 | TogoVar | |||||||
CELF4_chr18_37238040_37570798 | 37509422 | TTGACCCA others(3): Show |
T | intron_variant | MODIFIER | HG02055.hp1 HG02055.hp2 HG02723.hp2 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0008a0001c0001t0009others(3): Show | a0001c0001t0007g0120 a0001c0001t0008g0125 a0001c0001t0009g0028 others(4): Show |
7 | 184 | 0.0380 | -10 | c.287 others(29): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
CELF4_chr18_37238040_37570798 | 37513941 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00738.hp1 HG01074.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(3): Show | a0001c0001t0001g0069 a0001c0001t0003g0100 a0001c0001t0012g0026 others(4): Show |
7 | 184 | 0.0380 | -10 | c.287 others(29): Show |
CELF4 | ENSG00000101489.20 | transcript | ENST00000420428.7 | protein_coding | 1/12 | chr18 | TogoVar | |||||||
CELF5_chr19_3219661_3302076 | 3225185 | ACAGATCC others(3): Show |
A | intron_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0258 | 1 | 262 | 0.0038 | -10 | c.259 others(25): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3226440 | TCACACAC others(3): Show |
T | intron_variant | MODIFIER | HG02630.hp1 HG02717.hp1 HG02895.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0120 a0001c0001t0001g0121 a0001c0001t0001g0124 others(7): Show |
10 | 262 | 0.0382 | -10 | c.259 others(27): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3289681 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG03139.hp2 HG03225.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0004 | a0001c0001t0001g0204 a0001c0006t0004g0137 |
2 | 262 | 0.0076 | -10 | c.118 others(27): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 10/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CELF5_chr19_3219661_3302076 | 3301326 | GTTTTTTT others(3): Show |
G | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00609.hp2 HG00642.hp1 others(48): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0117 a0001c0001t0001g0138 a0001c0001t0001g0142 others(48): Show |
51 | 262 | 0.1947 | -10 | c.*46 others(21): Show |
CELF5 | ENSG00000161082.13 | transcript | ENST00000292672.7 | protein_coding | 4251 | chr19 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46460178 | AACACACA others(3): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0016 | a0016c0045 | a0016c0045t0001 | a0016c0045t0001g0062 | 1 | 104 | 0.0096 | -10 | c.418 others(29): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46465302 | CCCCACCC others(3): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00609.hp1 HG00621.hp2 others(47): Show |
a0001a0002a0003others(23): Show | a0001c0001a0001c0002a0001c0004others(32): Show | a0001c0001t0001a0001c0001t0012a0001c0001t0014others(34): Show | a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0043 others(47): Show |
50 | 104 | 0.4808 | -10 | c.354 others(27): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46473752 | TGGTGGCT others(3): Show |
T | intron_variant | MODIFIER | NA20129.hp1 | a0048 | a0048c0068 | a0048c0068t0001 | a0048c0068t0001g0102 | 1 | 104 | 0.0096 | -10 | c.354 others(29): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46504511 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG00621.hp2 HG01515.hp2 HG02129.hp2 others(5): Show |
a0001a0003a0046 | a0001c0001a0001c0004a0001c0006others(3): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(3): Show | a0001c0001t0001g0041 a0001c0001t0001g0043 a0001c0001t0001g0087 others(5): Show |
8 | 104 | 0.0769 | -10 | c.354 others(31): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46506173 | CAAAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG00609.hp1 HG00621.hp1 HG00639.hp1 others(44): Show |
a0001a0002a0004others(12): Show | a0001c0001a0001c0002a0001c0004others(20): Show | a0001c0001t0001a0001c0001t0011a0001c0001t0014others(22): Show | a0001c0001t0001g0029 a0001c0001t0001g0037 a0001c0001t0001g0045 others(44): Show |
47 | 104 | 0.4519 | -10 | c.354 others(31): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46524566 | GTGTGTCT others(3): Show |
G | intron_variant | MODIFIER | HG00609.hp1 HG02083.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0029 a0002c0003t0001g0009 |
2 | 104 | 0.0192 | -10 | c.354 others(29): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46528928 | CAAAATAA others(3): Show |
C | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 104 | 0.0096 | -10 | c.354 others(29): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/34 | chr22 | TogoVar | |||||||
CELSR1_chr22_46356174_46542620 | 46537456 | CGGCGGCT others(3): Show |
C | 5_prime_UTR_variant | MODIFIER | NA19030.hp1 | a0045 | a0045c0070 | a0045c0070t0007 | a0045c0070t0007g0003 | 1 | 104 | 0.0096 | -10 | c.-29 others(19): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 1/35 | 287 | chr22 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46539864 | TTTTTGTT others(3): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00621.hp1 HG00639.hp1 others(17): Show |
a0001a0005a0008others(2): Show | a0001c0001a0001c0004a0001c0006others(7): Show | a0001c0001t0001a0001c0004t0001a0001c0006t0001others(7): Show | a0001c0001t0001g0041 a0001c0001t0001g0045 a0001c0001t0001g0051 others(17): Show |
20 | 104 | 0.1923 | -10 | c.-27 others(21): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 2245 | chr22 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71691429 | AATAAATA others(3): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0003 | a0003c0005 | a0003c0005t0008 | a0003c0005t0008g0101 | 1 | 320 | 0.0031 | -10 | c.369 others(29): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 21/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71755959 | CACAAAAA others(3): Show |
C | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG03669.hp1 others(2): Show |
a0005a0008 | a0005c0004a0005c0017a0008c0022 | a0005c0004t0001a0005c0017t0001a0008c0022t0036 | a0005c0004t0001g0231 a0005c0004t0001g0232 a0005c0004t0001g0233 others(2): Show |
5 | 320 | 0.0156 | -10 | c.-12 others(27): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 1/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71756472 | CCTCTCTC others(3): Show |
C | intron_variant | MODIFIER | HG02895.hp2 HG02897.hp2 |
a0002 | a0002c0007 | a0002c0007t0007 | a0002c0007t0007g0236 a0002c0007t0007g0237 |
2 | 320 | 0.0063 | -10 | c.-12 others(27): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 1/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71756498 | TCTCTCTC others(3): Show |
T | intron_variant | MODIFIER | HG02559.hp1 | a0002 | a0002c0007 | a0002c0007t0008 | a0002c0007t0008g0269 | 1 | 320 | 0.0031 | -10 | c.-12 others(27): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 1/23 | chr9 | TogoVar | |||||||
CEMIP2_chr9_71678366_71773513 | 71756500 | TCTCTCTC others(3): Show |
T | intron_variant | MODIFIER | HG01109.hp1 HG02257.hp2 HG03490.hp1 |
a0005a0008 | a0005c0004a0005c0017a0008c0022 | a0005c0004t0011a0005c0017t0001a0008c0022t0036 | a0005c0004t0011g0008 a0005c0017t0001g0230 a0008c0022t0036g0280 |
3 | 320 | 0.0094 | -10 | c.-12 others(27): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 1/23 | chr9 | TogoVar | |||||||
CEMIP_chr15_80774370_80956771 | 80786556 | CTGTGTGT others(3): Show |
C | intron_variant | MODIFIER | HG02572.hp2 HG02970.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0201 a0001c0001t0001g0240 |
2 | 254 | 0.0079 | -10 | c.-17 others(29): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80839289 | AGTGTGTG others(3): Show |
A | intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0247 | 1 | 254 | 0.0039 | -10 | c.-17 others(31): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 1/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80900585 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG02056.hp2 HG03688.hp1 |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0001a0002c0004t0001 | a0001c0001t0001g0092 a0002c0004t0001g0193 |
2 | 254 | 0.0079 | -10 | c.141 others(29): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar | ||||||
CEMIP_chr15_80774370_80956771 | 80900640 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0003 | a0001c0003t0006 | a0001c0003t0006g0253 | 1 | 254 | 0.0039 | -10 | c.141 others(29): Show |
CEMIP | ENSG00000103888.17 | transcript | ENST00000394685.8 | protein_coding | 12/29 | INFO_REALIGN_3_PRIME | chr15 | TogoVar |