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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CPT1A_chr11_68749883_68846916 | 68768066 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02486.hp1 HG02572.hp2 others(6): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0009 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0002g0145 a0001c0001t0003g0222 a0001c0001t0005g0123 others(6): Show |
9 | 236 | 0.0381 | 8 | c.174 others(27): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 14/18 | chr11 | TogoVar | |||||||
CPT1A_chr11_68749883_68846916 | 68816755 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02559.hp1 HG02647.hp2 HG02922.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0022 | a0001c0001t0002g0008 a0001c0001t0003g0017 a0001c0001t0003g0198 others(2): Show |
5 | 236 | 0.0212 | 8 | c.-13 others(25): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 1/18 | chr11 | TogoVar | |||||||
CPT1A_chr11_68749883_68846916 | 68820015 | C | CGTTTGTT others(1): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02486.hp1 HG02647.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0002t0002 | a0001c0001t0002g0008 a0001c0001t0003g0198 a0001c0001t0003g0221 others(3): Show |
6 | 236 | 0.0254 | 8 | c.-13 others(25): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 1/18 | chr11 | TogoVar | |||||||
CPT1A_chr11_68749883_68846916 | 68836850 | G | GGGAAGGA others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG02976.hp2 HG03139.hp1 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0018a0001c0001t0040a0001c0004t0041 | a0001c0001t0018g0230 a0001c0001t0018g0232 a0001c0001t0040g0231 others(1): Show |
4 | 236 | 0.0170 | 8 | c.-14 others(25): Show |
CPT1A | ENSG00000110090.13 | transcript | ENST00000265641.10 | protein_coding | 1/18 | chr11 | TogoVar | |||||||
CPT1B_chr22_50563861_50583427 | 50583192 | C | CCGGCGGG others(1): Show |
upstream_gene_variant | MODIFIER | HG02615.hp2 HG02818.hp1 HG02965.hp1 others(4): Show |
a0002a0004 | a0002c0002a0004c0003 | a0002c0002t0002a0002c0002t0003a0002c0002t0004others(2): Show | a0002c0002t0002g0007 a0002c0002t0002g0022 a0002c0002t0003g0006 others(3): Show |
7 | 414 | 0.0169 | 8 | c.-48 others(19): Show |
CPT1B | ENSG00000205560.13 | transcript | ENST00000312108.12 | protein_coding | 4766 | chr22 | TogoVar | |||||||
CPT1C_chr19_49686116_49718731 | 49702080 | A | AATAAATA others(1): Show |
intron_variant | MODIFIER | HG02683.hp1 NA18951.hp1 NA18952.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0059 a0001c0001t0002g0062 a0001c0001t0002g0075 others(3): Show |
6 | 350 | 0.0171 | 8 | c.693 others(23): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CPT1C_chr19_49686116_49718731 | 49703563 | T | TCCTCCCT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG02056.hp2 HG02083.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0238 a0001c0001t0002g0029 a0001c0001t0002g0031 others(4): Show |
8 | 350 | 0.0229 | 8 | c.694 others(25): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CPT1C_chr19_49686116_49718731 | 49703595 | C | CCCTCCCT others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01071.hp1 HG02451.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0136 a0001c0001t0002g0165 a0001c0001t0002g0167 others(4): Show |
7 | 350 | 0.0200 | 8 | c.694 others(25): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CPTP_chr1_1319802_1333896 | 1324059 | A | AGGGTCTG others(1): Show |
upstream_gene_variant | MODIFIER | NA18941.hp1 NA18945.hp1 NA18945.hp2 others(12): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0001 | a0001c0001t0001g0002 a0006c0009t0001g0002 |
15 | 378 | 0.0397 | 8 | c.-11 others(19): Show |
CPTP | ENSG00000224051.7 | transcript | ENST00000343938.9 | protein_coding | 742 | chr1 | TogoVar | |||||||
CPTP_chr1_1319802_1333896 | 1324148 | G | GGGGCTGC others(1): Show |
upstream_gene_variant | MODIFIER | NA18941.hp1 NA18945.hp1 NA18945.hp2 others(12): Show |
a0001a0006 | a0001c0001a0006c0009 | a0001c0001t0001a0006c0009t0001 | a0001c0001t0001g0002 a0006c0009t0001g0002 |
15 | 378 | 0.0397 | 8 | c.-10 others(19): Show |
CPTP | ENSG00000224051.7 | transcript | ENST00000343938.9 | protein_coding | 653 | chr1 | TogoVar | |||||||
CPVL_chr7_28990235_29151537 | 29003154 | G | GCACACAC others(1): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02280.hp2 HG02572.hp1 others(1): Show |
a0001a0002a0004 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0002others(1): Show | a0001c0001t0001g0186 a0001c0004t0001g0141 a0002c0002t0002g0049 others(1): Show |
4 | 282 | 0.0142 | 8 | c.132 others(27): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 12/12 | chr7 | TogoVar | |||||||
CPVL_chr7_28990235_29151537 | 29075956 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp1 others(47): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0014 a0001c0001t0001g0075 a0001c0001t0001g0079 others(47): Show |
50 | 282 | 0.1773 | 8 | c.610 others(25): Show |
CPVL | ENSG00000106066.15 | transcript | ENST00000265394.10 | protein_coding | 7/12 | chr7 | TogoVar | |||||||
CPXCR1_chrX_88742225_88759781 | 88752524 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 HG02922.hp1 others(3): Show |
a0001a0006 | a0001c0001a0001c0004a0006c0007 | a0001c0001t0001a0001c0004t0001a0006c0007t0001 | a0001c0001t0001g0056 a0001c0001t0001g0058 a0001c0004t0001g0019 others(1): Show |
6 | 308 | 0.0195 | 8 | c.-8- others(21): Show |
CPXCR1 | ENSG00000147183.10 | transcript | ENST00000276127.9 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
CPXM2_chr10_123740639_123896807 | 123744971 | T | TTTCTTTT others(1): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 HG00642.hp2 HG00733.hp1 others(45): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0002a0001c0003others(11): Show | a0001c0001t0002a0001c0001t0005a0001c0002t0002others(15): Show | a0001c0001t0002g0024 a0001c0001t0002g0026 a0001c0001t0002g0027 others(45): Show |
48 | 288 | 0.1667 | 8 | c.*17 others(19): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 667 | chr10 | TogoVar | |||||||
CPXM2_chr10_123740639_123896807 | 123794734 | C | CGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG03491.hp1 HG03492.hp2 others(2): Show |
a0001a0002 | a0001c0002a0001c0005a0001c0011others(1): Show | a0001c0002t0008a0001c0005t0005a0001c0011t0002others(1): Show | a0001c0002t0008g0206 a0001c0002t0008g0208 a0001c0005t0005g0071 others(2): Show |
5 | 288 | 0.0174 | 8 | c.889 others(25): Show |
CPXM2 | ENSG00000121898.13 | transcript | ENST00000241305.4 | protein_coding | 6/13 | chr10 | TogoVar | |||||||
CPZ_chr4_8587765_8624752 | 8605322 | T | TCATCCAT others(1): Show |
intron_variant | MODIFIER | HG02723.hp1 HG02976.hp2 HG03041.hp2 others(2): Show |
a0001a0006a0007 | a0001c0001a0006c0015a0007c0043 | a0001c0001t0001a0006c0015t0002a0007c0043t0002 | a0001c0001t0001g0167 a0006c0015t0002g0239 a0006c0015t0002g0241 others(2): Show |
5 | 442 | 0.0113 | 8 | c.710 others(23): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 4/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CPZ_chr4_8587765_8624752 | 8609243 | C | CACTCATT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00609.hp1 others(42): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0012a0001c0058others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(6): Show | a0001c0001t0001g0222 a0001c0001t0001g0300 a0001c0001t0002g0024 others(33): Show |
45 | 442 | 0.1018 | 8 | c.122 others(27): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CPZ_chr4_8587765_8624752 | 8623993 | A | AAAATAAA others(1): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 HG02280.hp2 HG02559.hp1 others(16): Show |
a0004a0028 | a0004c0002a0004c0017a0004c0029others(1): Show | a0004c0002t0002a0004c0017t0002a0004c0029t0002others(1): Show | a0004c0002t0002g0018 a0004c0002t0002g0051 a0004c0002t0002g0052 others(11): Show |
19 | 442 | 0.0430 | 8 | c.*43 others(19): Show |
CPZ | ENSG00000109625.19 | transcript | ENST00000360986.9 | protein_coding | 4242 | chr4 | TogoVar | |||||||
CP_chr3_149167497_149226829 | 149169038 | C | CGTGTGTG others(1): Show |
downstream_gene_variant | MODIFIER | HG01243.hp1 HG01255.hp2 HG01884.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0003 | a0001c0001t0003g0178 a0001c0001t0003g0334 a0001c0001t0003g0336 others(5): Show |
8 | 376 | 0.0213 | 8 | c.*46 others(19): Show |
CP | ENSG00000047457.14 | transcript | ENST00000264613.11 | protein_coding | 3458 | chr3 | TogoVar | |||||||
CP_chr3_149167497_149226829 | 149172318 | T | TCACACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG00738.hp1 HG01255.hp2 HG01433.hp2 others(12): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0002c0002t0001 | a0001c0001t0001g0073 a0001c0001t0001g0343 a0001c0001t0001g0345 others(11): Show |
15 | 376 | 0.0399 | 8 | c.*13 others(19): Show |
CP | ENSG00000047457.14 | transcript | ENST00000264613.11 | protein_coding | 178 | chr3 | TogoVar | |||||||
CP_chr3_149167497_149226829 | 149172318 | T | TCTCACAC others(1): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG01069.hp1 others(11): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0003t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0022 a0001c0001t0001g0067 a0001c0001t0001g0104 others(10): Show |
14 | 376 | 0.0372 | 8 | c.*13 others(19): Show |
CP | ENSG00000047457.14 | transcript | ENST00000264613.11 | protein_coding | 178 | chr3 | TogoVar | |||||||
CP_chr3_149167497_149226829 | 149179711 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00597.hp2 HG02071.hp1 HG02080.hp1 others(11): Show |
a0001a0002a0014 | a0001c0001a0002c0002a0014c0023 | a0001c0001t0001a0001c0001t0004a0002c0002t0003others(1): Show | a0001c0001t0001g0009 a0001c0001t0001g0013 a0001c0001t0001g0039 others(9): Show |
14 | 376 | 0.0372 | 8 | c.255 others(23): Show |
CP | ENSG00000047457.14 | transcript | ENST00000264613.11 | protein_coding | 14/18 | chr3 | TogoVar | |||||||
CR1L_chr1_207640133_207728703 | 207643914 | G | GTATATAT others(1): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG02015.hp1 HG02109.hp2 others(7): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0005others(2): Show | a0001c0001t0001a0002c0002t0001a0005c0005t0001others(2): Show | a0001c0001t0001g0278 a0002c0002t0001g0077 a0005c0005t0001g0026 others(7): Show |
10 | 346 | 0.0289 | 8 | c.-13 others(19): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 1218 | chr1 | TogoVar | |||||||
CR1L_chr1_207640133_207728703 | 207648174 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG01934.hp2 HG02155.hp2 HG03927.hp2 others(5): Show |
a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0285 a0004c0004t0001g0286 a0004c0004t0001g0287 others(5): Show |
8 | 346 | 0.0231 | 8 | c.97+ others(23): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1L_chr1_207640133_207728703 | 207648208 | C | CACACACA others(1): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02055.hp2 HG02559.hp1 others(1): Show |
a0002a0015 | a0002c0002a0015c0016 | a0002c0002t0001a0015c0016t0001 | a0002c0002t0001g0127 a0002c0002t0001g0175 a0015c0016t0001g0124 others(1): Show |
4 | 346 | 0.0116 | 8 | c.97+ others(23): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1L_chr1_207640133_207728703 | 207656239 | A | AAATCAAT others(1): Show |
intron_variant | MODIFIER | HG01891.hp2 HG03139.hp2 HG03453.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0003 | 3 | 346 | 0.0087 | 8 | c.97+ others(25): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 1/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1L_chr1_207640133_207728703 | 207682976 | C | CTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00323.hp1 others(30): Show |
a0005a0006a0008others(3): Show | a0005c0005a0005c0036a0006c0006others(4): Show | a0005c0005t0001a0005c0036t0001a0006c0006t0001others(4): Show | a0005c0005t0001g0017 a0005c0005t0001g0018 a0005c0005t0001g0021 others(27): Show |
33 | 346 | 0.0954 | 8 | c.378 others(23): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 3/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1L_chr1_207640133_207728703 | 207686134 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00639.hp1 others(39): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(5): Show | a0001c0001t0001g0008 a0001c0001t0001g0138 a0001c0001t0001g0146 others(36): Show |
42 | 346 | 0.1214 | 8 | c.463 others(25): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1L_chr1_207640133_207728703 | 207686142 | T | TCCTCCCT others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02257.hp1 HG02809.hp2 others(3): Show |
a0018a0019a0024others(2): Show | a0018c0022a0019c0021a0024c0032others(2): Show | a0018c0022t0001a0019c0021t0001a0024c0032t0001others(2): Show | a0018c0022t0001g0265 a0019c0021t0001g0266 a0019c0021t0001g0268 others(3): Show |
6 | 346 | 0.0173 | 8 | c.463 others(25): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1L_chr1_207640133_207728703 | 207686149 | T | TTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01167.hp2 HG01169.hp1 others(1): Show |
a0006 | a0006c0006 | a0006c0006t0001 | a0006c0006t0001g0108 a0006c0006t0001g0109 a0006c0006t0001g0110 others(1): Show |
4 | 346 | 0.0116 | 8 | c.463 others(25): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1L_chr1_207640133_207728703 | 207686157 | T | TTCCTTCC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG01106.hp1 others(11): Show |
a0005a0011 | a0005c0005a0011c0015 | a0005c0005t0001a0011c0015t0001 | a0005c0005t0001g0017 a0005c0005t0001g0019 a0005c0005t0001g0022 others(11): Show |
14 | 346 | 0.0405 | 8 | c.463 others(25): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1L_chr1_207640133_207728703 | 207706013 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG01358.hp1 HG01433.hp2 NA19075.hp1 |
a0002a0005 | a0002c0002a0005c0005 | a0002c0002t0001a0005c0005t0001 | a0002c0002t0001g0087 a0005c0005t0001g0019 a0005c0005t0001g0027 |
3 | 346 | 0.0087 | 8 | c.132 others(27): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1L_chr1_207640133_207728703 | 207707785 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00423.hp2 HG00597.hp1 HG01192.hp2 others(17): Show |
a0001a0002a0004others(1): Show | a0001c0001a0002c0002a0004c0004others(1): Show | a0001c0001t0001a0002c0002t0001a0004c0004t0001others(1): Show | a0001c0001t0001g0010 a0001c0001t0001g0139 a0001c0001t0001g0146 others(16): Show |
20 | 346 | 0.0578 | 8 | c.132 others(25): Show |
CR1L | ENSG00000197721.17 | transcript | ENST00000508064.7 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207498877 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG01069.hp1 others(13): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0009a0003c0002others(5): Show | a0001c0001t0002a0001c0001t0003a0002c0009t0002others(6): Show | a0001c0001t0002g0301 a0001c0001t0003g0302 a0002c0009t0002g0303 others(13): Show |
16 | 360 | 0.0444 | 8 | c.121 others(25): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 1/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207510724 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01255.hp1 HG01943.hp1 others(4): Show |
a0001a0002 | a0001c0001a0002c0013 | a0001c0001t0002a0002c0013t0001a0002c0013t0002others(1): Show | a0001c0001t0002g0229 a0001c0001t0002g0321 a0001c0001t0002g0337 others(4): Show |
7 | 360 | 0.0194 | 8 | c.402 others(23): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207510746 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02723.hp1 HG03471.hp1 others(1): Show |
a0003a0028a0029others(1): Show | a0003c0002a0028c0075a0029c0074others(1): Show | a0003c0002t0001a0028c0075t0005a0029c0074t0002others(1): Show | a0003c0002t0001g0035 a0028c0075t0005g0025 a0029c0074t0002g0036 others(1): Show |
4 | 360 | 0.0111 | 8 | c.402 others(23): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 3/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207513734 | T | TCCTCCCT others(1): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02258.hp2 HG02572.hp1 others(19): Show |
a0002a0004a0005others(4): Show | a0002c0003a0002c0010a0002c0027others(7): Show | a0002c0003t0003a0002c0010t0002a0002c0027t0002others(9): Show | a0002c0003t0003g0274 a0002c0010t0002g0135 a0002c0010t0002g0136 others(19): Show |
22 | 360 | 0.0611 | 8 | c.487 others(25): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 4/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207513762 | C | CCCTCCCT others(1): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01071.hp2 HG02258.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0011a0002c0058 | a0001c0001t0004a0002c0011t0006a0002c0058t0002 | a0001c0001t0004g0158 a0002c0011t0006g0074 a0002c0011t0006g0075 others(3): Show |
6 | 360 | 0.0167 | 8 | c.487 others(25): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 4/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207513762 | C | CCCTTCCT others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00280.hp1 others(33): Show |
a0001a0015a0016others(3): Show | a0001c0001a0015c0029a0016c0030others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0083 a0001c0001t0001g0086 a0001c0001t0001g0246 others(33): Show |
36 | 360 | 0.1000 | 8 | c.487 others(25): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 4/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207538093 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00639.hp1 others(45): Show |
a0002a0003a0004others(9): Show | a0002c0009a0003c0002a0003c0007others(13): Show | a0002c0009t0002a0003c0002t0001a0003c0002t0002others(19): Show | a0002c0009t0002g0269 a0002c0009t0002g0270 a0002c0009t0002g0273 others(45): Show |
48 | 360 | 0.1333 | 8 | c.175 others(27): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 11/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207550183 | G | GTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00735.hp2 HG01167.hp1 HG01169.hp1 others(5): Show |
a0009a0013a0018others(2): Show | a0009c0054a0013c0019a0018c0035others(3): Show | a0009c0054t0009a0013c0019t0002a0018c0035t0005others(3): Show | a0009c0054t0009g0072 a0013c0019t0002g0188 a0013c0019t0002g0189 others(5): Show |
8 | 360 | 0.0222 | 8 | c.260 others(25): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 16/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207556648 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG01243.hp1 HG03098.hp1 HG03225.hp2 others(1): Show |
a0006a0009a0020others(1): Show | a0006c0008a0009c0054a0020c0026others(1): Show | a0006c0008t0003a0009c0054t0009a0020c0026t0001others(1): Show | a0006c0008t0003g0061 a0009c0054t0009g0072 a0020c0026t0001g0013 others(1): Show |
4 | 360 | 0.0111 | 8 | c.310 others(27): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 19/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207575202 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00558.hp2 HG02083.hp2 HG02145.hp2 others(8): Show |
a0001a0023 | a0001c0001a0023c0064 | a0001c0001t0002a0001c0001t0008a0023c0064t0003 | a0001c0001t0002g0069 a0001c0001t0002g0132 a0001c0001t0002g0177 others(8): Show |
11 | 360 | 0.0306 | 8 | c.445 others(25): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 27/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207586124 | T | TTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02145.hp1 HG02572.hp2 others(1): Show |
a0008a0024 | a0008c0020a0008c0077a0024c0059 | a0008c0020t0002a0008c0077t0002a0024c0059t0017 | a0008c0020t0002g0020 a0008c0020t0002g0133 a0008c0077t0002g0030 others(1): Show |
4 | 360 | 0.0111 | 8 | c.553 others(27): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 33/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207593084 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02615.hp1 HG02630.hp2 others(10): Show |
a0004a0028a0029others(1): Show | a0004c0006a0028c0075a0029c0074others(1): Show | a0004c0006t0001a0028c0075t0005a0029c0074t0002others(1): Show | a0004c0006t0001g0001 a0004c0006t0001g0082 a0004c0006t0001g0089 others(9): Show |
13 | 360 | 0.0361 | 8 | c.581 others(27): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 35/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617483 | G | GTATATAT others(1): Show |
intron_variant | MODIFIER | HG02572.hp2 HG03041.hp2 HG03453.hp2 others(1): Show |
a0007a0008a0033 | a0007c0012a0008c0020a0008c0077others(1): Show | a0007c0012t0001a0008c0020t0002a0008c0077t0002others(1): Show | a0007c0012t0001g0015 a0008c0020t0002g0133 a0008c0077t0002g0030 others(1): Show |
4 | 360 | 0.0111 | 8 | c.689 others(25): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207617507 | A | ATATATGT others(1): Show |
intron_variant | MODIFIER | NA18966.hp2 NA18990.hp1 NA19000.hp2 others(4): Show |
a0005 | a0005c0004 | a0005c0004t0002 | a0005c0004t0002g0002 a0005c0004t0002g0174 a0005c0004t0002g0175 others(3): Show |
7 | 360 | 0.0194 | 8 | c.689 others(25): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 41/46 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CR1_chr1_207491157_207646765 | 207643914 | G | GTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG02015.hp1 HG02109.hp2 HG02622.hp1 others(9): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0009a0003c0002others(3): Show | a0001c0001t0002a0002c0009t0002a0003c0002t0002others(3): Show | a0001c0001t0002g0301 a0002c0009t0002g0258 a0002c0009t0002g0259 others(9): Show |
12 | 360 | 0.0333 | 8 | c.*45 others(19): Show |
CR1 | ENSG00000203710.12 | transcript | ENST00000367049.9 | protein_coding | 2150 | chr1 | TogoVar | |||||||
CR2_chr1_207449328_207494892 | 207458059 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00639.hp2 HG00741.hp1 others(20): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0031a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0003a0001c0031t0001others(3): Show | a0001c0001t0001g0011 a0001c0001t0001g0037 a0001c0001t0001g0066 others(16): Show |
23 | 378 | 0.0609 | 8 | c.58+ others(23): Show |
CR2 | ENSG00000117322.19 | transcript | ENST00000367057.8 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRABP1_chr15_78335353_78353225 | 78349838 | T | TCCCCCCT others(1): Show |
downstream_gene_variant | MODIFIER | NA18961.hp2 NA18995.hp2 NA18997.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0013 a0001c0001t0001g0102 a0001c0002t0001g0003 |
6 | 460 | 0.0130 | 8 | c.*18 others(19): Show |
CRABP1 | ENSG00000166426.8 | transcript | ENST00000299529.7 | protein_coding | 1614 | chr15 | TogoVar |