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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NBPF19_chr1_149470045_149561361 | 149533666 | T | TTCTCTCT others(4754): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0077 | 1 | 228 | 0.0044 | 4761 | c.807 others(4778): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 67/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149533729 | T | TATCTGTC others(4754): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 214 | 0.0047 | 4761 | c.836 others(4776): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 69/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149533729 | T | TATCTGTC others(4754): Show |
intron_variant | MODIFIER | NA18998.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0108 | 1 | 214 | 0.0047 | 4761 | c.825 others(4778): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 68/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149538480 | T | TATCTGTC others(4754): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0039 | 1 | 167 | 0.0060 | 4761 | c.898 others(4776): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 74/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149538480 | T | TATCTGTC others(4754): Show |
intron_variant | MODIFIER | HG02486.hp1 | a0034 | a0034c0047 | a0034c0047t0001 | a0034c0047t0001g0038 | 1 | 167 | 0.0060 | 4761 | c.898 others(4776): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 74/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(4754): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 13 | 0.0769 | 4761 | c.215 others(4778): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(4754): Show |
intron_variant | MODIFIER | HG03831.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0064 | 1 | 13 | 0.0769 | 4761 | c.215 others(4778): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(4754): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0239 | 1 | 13 | 0.0769 | 4761 | c.215 others(4778): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(4754): Show |
intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 13 | 0.0769 | 4761 | c.215 others(4778): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(4754): Show |
intron_variant | MODIFIER | NA19065.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 13 | 0.0769 | 4761 | c.215 others(4778): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(4754): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0005 | a0005c0007 | a0005c0007t0001 | a0005c0007t0001g0128 | 1 | 13 | 0.0769 | 4761 | c.215 others(4778): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(4754): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0019 | a0019c0028 | a0019c0028t0001 | a0019c0028t0001g0130 | 1 | 13 | 0.0769 | 4761 | c.215 others(4778): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4755): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 | a0004 | a0004c0005 | a0004c0005t0006 | a0004c0005t0006g0021 | 1 | 67 | 0.0149 | 4762 | c.-22 others(4773): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4755): Show |
upstream_gene_variant | MODIFIER | NA18991.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 67 | 0.0149 | 4762 | c.-22 others(4773): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4755): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 HG03130.hp2 |
a0007 | a0007c0008 | a0007c0008t0002a0007c0008t0016 | a0007c0008t0002g0044 a0007c0008t0016g0043 |
2 | 68 | 0.0294 | 4762 | c.-22 others(4773): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
NBPF19_chr1_149470045_149561361 | 149522644 | C | CCTCTCTC others(4755): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 176 | 0.0057 | 4762 | c.639 others(4779): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 53/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4755): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 3 | 0.3333 | 4762 | c.-34 others(4777): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4755): Show |
intron_variant | MODIFIER | NA18942.hp1 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0014 | a0001c0001t0001g0035 a0001c0001t0014g0035 |
2 | 4 | 0.5000 | 4762 | c.-34 others(4777): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149509578 | C | CCTGGTTC others(4756): Show |
intron_variant | MODIFIER | HG01168.hp2 HG02602.hp1 HG04184.hp1 |
a0001a0035 | a0001c0001a0035c0041 | a0001c0001t0001a0035c0041t0001 | a0001c0001t0001g0100 a0001c0001t0001g0114 a0035c0041t0001g0151 |
3 | 206 | 0.0146 | 4763 | c.441 others(4780): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 37/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149509578 | C | CCTGGTTC others(4756): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0036 | 1 | 204 | 0.0049 | 4763 | c.441 others(4780): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 37/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149550053 | A | AGGGAGGA others(4756): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0046 | a0046c0058 | a0046c0058t0002 | a0046c0058t0002g0209 | 1 | 236 | 0.0042 | 4763 | c.107 others(4782): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 88/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
PHRF1_chr11_571470_617222 | 585658 | T | TTGAGGTA others(4756): Show |
intron_variant | MODIFIER | NA19011.hp2 | a0021 | a0021c0035 | a0021c0035t0001 | a0021c0035t0001g0242 | 1 | 13 | 0.0769 | 4763 | c.215 others(4780): Show |
PHRF1 | ENSG00000070047.13 | transcript | ENST00000264555.10 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 965201 | T | TCCCAGAT others(4757): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0210 | 1 | 239 | 0.0042 | 4764 | c.137 others(4781): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
NBPF12_chr1_146933324_147001198 | 146986074 | A | ATCAGAGT others(4757): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0095 | 1 | 111 | 0.0090 | 4764 | c.289 others(4781): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 26/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4757): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 3 | 0.3333 | 4764 | c.-34 others(4779): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4757): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0146 | 1 | 3 | 0.3333 | 4764 | c.-34 others(4779): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200717 | T | TGGAGGTG others(4758): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0003 | a0001c0003t0003 | a0001c0003t0003g0146 | 1 | 251 | 0.0040 | 4765 | c.955 others(4782): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4758): Show |
upstream_gene_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0014 | 1 | 67 | 0.0149 | 4765 | c.-22 others(4776): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
NBPF12_chr1_146933324_147001198 | 146994173 | C | CTGTTCTA others(4758): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0021 | a0021c0016 | a0021c0016t0022 | a0021c0016t0022g0102 | 1 | 119 | 0.0084 | 4765 | c.413 others(4780): Show |
NBPF12 | ENSG00000268043.9 | transcript | ENST00000698835.1 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149550193 | C | CTGGACCT others(4758): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0015 | a0015c0010 | a0015c0010t0002 | a0015c0010t0002g0237 | 1 | 211 | 0.0047 | 4765 | c.107 others(4782): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 89/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
FMN2_chr1_240086883_240480187 | 240185113 | T | TACCTTCC others(4760): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0004 | a0004c0117 | a0004c0117t0006 | a0004c0117t0006g0108 | 1 | 172 | 0.0058 | 4767 | c.193 others(4786): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MUC5B_chr11_1218066_1267172 | 1251371 | G | GCCACTGG others(4760): Show |
disruptive_inframe_insertion | MODERATE | HG03130.hp1 | a0104 | a0104c0112 | a0104c0112t0003 | a0104c0112t0003g0172 | 1 | 348 | 0.0029 | 4767 | c.144 others(4778): Show |
p.Gly others(4782): Show |
MUC5B | ENSG00000117983.17 | transcript | ENST00000529681.5 | protein_coding | 31/49 | 14557/17911 | 14499/17289 | 4833/5762 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||
NBPF19_chr1_149470045_149561361 | 149505990 | T | TCTCCTAG others(4760): Show |
intron_variant | MODIFIER | NA18985.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0205 | 1 | 274 | 0.0036 | 4767 | c.396 others(4782): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 33/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149550053 | A | AGGGAGGA others(4760): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0211 | 1 | 236 | 0.0042 | 4767 | c.107 others(4786): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 88/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(4761): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0041 | 1 | 76 | 0.0132 | 4768 | c.955 others(4785): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4761): Show |
upstream_gene_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 1 | 67 | 0.0149 | 4768 | c.-22 others(4779): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4761): Show |
upstream_gene_variant | MODIFIER | HG02602.hp1 NA18939.hp2 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 2 | 68 | 0.0294 | 4768 | c.-22 others(4779): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
DAZ2_chrY_23214533_23296356 | 23265923 | T | TGAAGACC others(4761): Show |
intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034 | 1 | 51 | 0.0196 | 4768 | c.143 others(4785): Show |
DAZ2 | ENSG00000205944.12 | transcript | ENST00000382440.6 | protein_coding | 19/27 | INFO_REALIGN_3_PRIME | chrY | TogoVar | ||||||
OR2T1_chr1_248398048_248413020 | 248404195 | C | CGTGTGTG others(4761): Show |
intron_variant | MODIFIER | HG01069.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 3 | 0.3333 | 4768 | c.-34 others(4783): Show |
OR2T1 | ENSG00000175143.5 | transcript | ENST00000642005.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(4762): Show |
intron_variant | MODIFIER | NA18964.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0247 | 1 | 23 | 0.0435 | 4769 | c.137 others(4786): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(4762): Show |
intron_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0243 | 1 | 23 | 0.0435 | 4769 | c.137 others(4786): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 965201 | T | TCCCAGAT others(4762): Show |
intron_variant | MODIFIER | HG00597.hp1 HG02132.hp2 HG02135.hp1 |
a0001 | a0001c0002a0001c0003 | a0001c0002t0002a0001c0003t0002 | a0001c0002t0002g0213 a0001c0003t0002g0137 a0001c0003t0002g0199 |
3 | 241 | 0.0124 | 4769 | c.137 others(4786): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 965201 | T | TCCCAGAT others(4762): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0200 | 1 | 239 | 0.0042 | 4769 | c.137 others(4786): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
EXD3_chr9_137301896_137428162 | 137355534 | A | AGGAGGAT others(4762): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0030 | a0030c0026 | a0030c0026t0001 | a0030c0026t0001g0033 | 1 | 70 | 0.0143 | 4769 | c.757 others(4784): Show |
EXD3 | ENSG00000187609.16 | transcript | ENST00000340951.9 | protein_coding | 8/21 | chr9 | TogoVar | |||||||
BTNL9_chr5_181035266_181066521 | 181045891 | G | GACACCTC others(4763): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 | 1 | 29 | 0.0345 | 4770 | c.109 others(4785): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
BTNL9_chr5_181035266_181066521 | 181045949 | C | TCAACACC others(4763): Show |
intron_variant | MODIFIER | NA18968.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 368 | 0.0027 | 4770 | c.109 others(4785): Show |
BTNL9 | ENSG00000165810.17 | transcript | ENST00000327705.14 | protein_coding | 2/10 | chr5 | TogoVar | |||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4763): Show |
upstream_gene_variant | MODIFIER | HG02258.hp1 HG03239.hp2 HG03654.hp1 others(1): Show |
a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0005 | 4 | 70 | 0.0571 | 4770 | c.-22 others(4781): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240980674 | T | TCCCAGGC others(4763): Show |
intron_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0235 | 1 | 269 | 0.0037 | 4770 | c.440 others(4789): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 27/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
EPPK1_chr8_143852324_143883467 | 143862168 | C | CGGCGGCC others(4763): Show |
conservative_inframe_insertion | MODERATE | HG02258.hp2 | a0093 | a0093c0221 | a0093c0221t0004 | a0093c0221t0004g0262 | 1 | 412 | 0.0024 | 4770 | c.110 others(4781): Show |
p.Thr others(4785): Show |
EPPK1 | ENSG00000261150.3 | transcript | ENST00000615648.2 | protein_coding | 2/2 | 11160/16005 | 11085/15267 | 3695/5088 | chr8 | TogoVar | |||
EYS_chr6_63714980_65712226 | 64295511 | A | AAGAAGCA others(4763): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0004 | 1 | 12 | 0.0833 | 4770 | c.619 others(4791): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 30/42 | chr6 | TogoVar |