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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4754): Show |
upstream_gene_variant | MODIFIER | HG02976.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0010 | 1 | 437 | 0.0023 | 4761 | c.-22 others(4772): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
CMTR2_chr16_71276392_71294402 | 71291350 | A | ATTCAAAA others(4754): Show |
upstream_gene_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0028 | 1 | 437 | 0.0023 | 4761 | c.-22 others(4772): Show |
CMTR2 | ENSG00000180917.18 | transcript | ENST00000434935.7 | protein_coding | 1949 | chr16 | TogoVar | |||||||
EYS_chr6_63714980_65712226 | 64295511 | A | AAGAAGCA others(4754): Show |
intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0019 | a0001c0019t0001 | a0001c0019t0001g0006 | 1 | 24 | 0.0417 | 4761 | c.619 others(4782): Show |
EYS | ENSG00000188107.15 | transcript | ENST00000503581.6 | protein_coding | 30/42 | chr6 | TogoVar | |||||||
NBPF19_chr1_149470045_149561361 | 149505318 | C | CTTTCTTA others(4754): Show |
stop_gained others(1): Show |
HIGH | HG02809.hp1 | a0114 | a0114c0126 | a0114c0126t0001 | a0114c0126t0001g0140 | 1 | 276 | 0.0036 | 4761 | c.370 others(4770): Show |
p.Leu others(4776): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 32/94 | 4489/13941 | 3703/11532 | 1235/3843 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||
NBPF19_chr1_149470045_149561361 | 149509578 | C | CCTGGTTC others(4754): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0136 | a0136c0113 | a0136c0113t0001 | a0136c0113t0001g0148 | 1 | 276 | 0.0036 | 4761 | c.441 others(4778): 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(4754): Show |
intron_variant | MODIFIER | HG03688.hp1 | a0003 | a0003c0136 | a0003c0136t0001 | a0003c0136t0001g0005 | 1 | 276 | 0.0036 | 4761 | c.441 others(4778): 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(4754): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0005 | a0005c0026 | a0005c0026t0001 | a0005c0026t0001g0008 | 1 | 276 | 0.0036 | 4761 | c.441 others(4778): 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(4754): Show |
intron_variant | MODIFIER | HG02630.hp2 HG02717.hp2 |
a0026 | a0026c0024 | a0026c0024t0001 | a0026c0024t0001g0003 | 2 | 276 | 0.0073 | 4761 | c.441 others(4778): 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(4754): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0150 | a0150c0183 | a0150c0183t0001 | a0150c0183t0001g0022 | 1 | 276 | 0.0036 | 4761 | c.441 others(4778): Show |
NBPF19 | ENSG00000271383.9 | transcript | ENST00000651566.2 | protein_coding | 37/93 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
NBPF19_chr1_149470045_149561361 | 149533666 | T | TTCTCTCT others(4754): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0081 | 1 | 276 | 0.0036 | 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 | a0150 | a0150c0183 | a0150c0183t0001 | a0150c0183t0001g0022 | 1 | 276 | 0.0036 | 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 | a0192 | a0192c0131 | a0192c0131t0001 | a0192c0131t0001g0118 | 1 | 276 | 0.0036 | 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 | a0101 | a0101c0114 | a0101c0114t0001 | a0101c0114t0001g0025 | 1 | 276 | 0.0036 | 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 | a0099 | a0099c0195 | a0099c0195t0001 | a0099c0195t0001g0023 | 1 | 276 | 0.0036 | 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 | a0001c0001t0001g0237 | 1 | 279 | 0.0036 | 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 | a0001c0001t0001g0063 | 1 | 279 | 0.0036 | 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 | a0001c0001t0001g0240 | 1 | 279 | 0.0036 | 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 | a0001c0001t0001g0077 | 1 | 279 | 0.0036 | 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 | a0001c0001t0001g0117 | 1 | 279 | 0.0036 | 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 | a0005c0007t0001g0127 | 1 | 279 | 0.0036 | 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 | a0019c0028t0001g0129 | 1 | 279 | 0.0036 | 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 | a0004c0005t0006g0024 | 1 | 437 | 0.0023 | 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 | 437 | 0.0023 | 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 | a0007c0008t0002g0048 a0007c0008t0016g0047 |
2 | 437 | 0.0046 | 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 | a0001c0001t0001g0158 | 1 | 276 | 0.0036 | 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 | 266 | 0.0038 | 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 | a0001c0001t0001a0001c0001t0015 | a0001c0001t0001g0035 a0001c0001t0015g0035 |
2 | 266 | 0.0075 | 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 |
a0061a0103a0148 | a0061c0180a0103c0177a0148c0181 | a0061c0180t0001a0103c0177t0001a0148c0181t0001 | a0061c0180t0001g0108 a0103c0177t0001g0165 a0148c0181t0001g0124 |
3 | 276 | 0.0109 | 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 | a0111 | a0111c0179 | a0111c0179t0001 | a0111c0179t0001g0021 | 1 | 276 | 0.0036 | 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 | a0188 | a0188c0218 | a0188c0218t0002 | a0188c0218t0002g0234 | 1 | 276 | 0.0036 | 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 | a0021c0035t0001g0243 | 1 | 279 | 0.0036 | 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 | a0001c0003t0002g0206 | 1 | 268 | 0.0037 | 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 | a0001c0001t0002g0106 | 1 | 122 | 0.0082 | 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 | 266 | 0.0038 | 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 | 266 | 0.0038 | 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 | 298 | 0.0034 | 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 | a0001c0001t0011g0016 | 1 | 437 | 0.0023 | 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 | a0008 | a0008c0015 | a0008c0015t0022 | a0008c0015t0022g0080 | 1 | 122 | 0.0082 | 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 | a0169 | a0169c0054 | a0169c0054t0002 | a0169c0054t0002g0264 | 1 | 276 | 0.0036 | 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 | a0004c0114 | a0004c0114t0006 | a0004c0114t0006g0108 | 1 | 174 | 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 | a0104c0111 | a0104c0111t0003 | a0104c0111t0003g0173 | 1 | 350 | 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 | a0035 | a0035c0014 | a0035c0014t0009 | a0035c0014t0009g0228 | 1 | 276 | 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 | a0046 | a0046c0058 | a0046c0058t0002 | a0046c0058t0002g0235 | 1 | 276 | 0.0036 | 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 | 298 | 0.0034 | 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 | 437 | 0.0023 | 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 | 437 | 0.0046 | 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 | a0009 | a0009c0012 | a0009c0012t0001 | a0009c0012t0001g0036 | 1 | 54 | 0.0185 | 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 | 266 | 0.0038 | 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 | a0001c0002t0002g0248 | 1 | 268 | 0.0037 | 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 | a0001c0002t0002g0244 | 1 | 268 | 0.0037 | 4769 | c.137 others(4786): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar |