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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ACTN2_chr1_236681499_236769631 | 236715026 | C | CCACTGAA others(5166): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0185 | 1 | 173 | 0.0058 | 5173 | c.127 others(5190): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ACTN2_chr1_236681499_236769631 | 236714756 | T | TACCACTG others(5167): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0013 | a0001c0013t0023 | a0001c0013t0023g0096 | 1 | 310 | 0.0032 | 5174 | c.127 others(5191): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5167): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 1 | 2 | 0.5000 | 5174 | c.287 others(5193): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294562 | A | AACTCTAG others(5167): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 2 | 297 | 0.0067 | 5174 | c.340 others(5191): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5168): Show |
upstream_gene_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0006 | 1 | 8 | 0.1250 | 5175 | c.-45 others(5184): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
CLPTM1L_chr5_1312752_1350099 | 1333733 | A | CTGAGGAT others(5169): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 366 | 0.0027 | 5176 | c.891 others(5191): Show |
CLPTM1L | ENSG00000049656.14 | transcript | ENST00000320895.10 | protein_coding | 7/16 | chr5 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46294562 | A | AACTCTAG others(5169): Show |
intron_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0203 | 1 | 296 | 0.0034 | 5176 | c.340 others(5193): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863941 | T | TTCACAAC others(5171): Show |
intron_variant | MODIFIER | NA18612.hp2 | a0003 | a0003c0028 | a0003c0028t0005 | a0003c0028t0005g0188 | 1 | 304 | 0.0033 | 5178 | c.225 others(5195): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5171): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0187 | 1 | 212 | 0.0047 | 5178 | c.225 others(5195): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863999 | C | CTTCCCAA others(5171): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 173 | 0.0058 | 5178 | c.225 others(5195): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863943 | C | CACAACCC others(5175): Show |
intron_variant | MODIFIER | NA18977.hp2 | a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0182 | 1 | 316 | 0.0032 | 5182 | c.225 others(5199): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716506 | G | GTGGTGTC others(5175): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0063 | 1 | 132 | 0.0076 | 5182 | c.86- others(5193): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158916028 | T | TACACGCT others(5176): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0237 | 1 | 6 | 0.1667 | 5183 | c.179 others(5202): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158916028 | T | TACACGCT others(5176): Show |
intron_variant | MODIFIER | HG03491.hp1 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0254 | 1 | 6 | 0.1667 | 5183 | c.179 others(5202): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
DYNC2I1_chr7_158851558_158951189 | 158916028 | T | TACACGCT others(5176): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0238 | 1 | 6 | 0.1667 | 5183 | c.179 others(5202): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323136 | T | TATATATG others(5177): Show |
upstream_gene_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0177 | 1 | 205 | 0.0049 | 5184 | c.-19 others(5195): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1833 | chr21 | TogoVar | |||||||
RIMBP2_chr12_130391133_130721299 | 130646238 | T | TCCACCTC others(5177): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 | 1 | 153 | 0.0065 | 5184 | c.-35 others(5205): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 1/22 | chr12 | TogoVar | |||||||
DYNC2I1_chr7_158851558_158951189 | 158916028 | T | TACACGCT others(5179): Show |
intron_variant | MODIFIER | HG04184.hp2 | a0003 | a0003c0003 | a0003c0003t0004 | a0003c0003t0004g0258 | 1 | 6 | 0.1667 | 5186 | c.179 others(5205): Show |
DYNC2I1 | ENSG00000126870.16 | transcript | ENST00000407559.8 | protein_coding | 14/24 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5180): Show |
upstream_gene_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0051 | 1 | 8 | 0.1250 | 5187 | c.-45 others(5196): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
MORN1_chr1_2316253_2396554 | 2325185 | T | TCCTTCCC others(5183): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 78 | 0.0128 | 5190 | c.125 others(5209): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
AP2A2_chr11_920870_1017240 | 964776 | C | CAAAGGAA others(5185): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0108 | 1 | 154 | 0.0065 | 5192 | c.136 others(5209): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200734 | G | GGGGTCAG others(5185): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0012 | a0012c0023 | a0012c0023t0001 | a0012c0023t0001g0042 | 1 | 286 | 0.0035 | 5192 | c.955 others(5209): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5188): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0046 | 1 | 2 | 0.5000 | 5195 | c.287 others(5214): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132243074 | C | CTCCCTAT others(5188): Show |
intron_variant | MODIFIER | HG00733.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 180 | 0.0056 | 5195 | c.107 others(5214): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
MORN1_chr1_2316253_2396554 | 2325140 | C | CTTCCTTC others(5190): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0026 | 1 | 2 | 0.5000 | 5197 | c.125 others(5214): Show |
MORN1 | ENSG00000116151.14 | transcript | ENST00000378531.8 | protein_coding | 12/13 | chr1 | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5191): Show |
intron_variant | MODIFIER | NA18952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 2 | 0.5000 | 5198 | c.287 others(5217): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311000 | T | TCATCATA others(5191): Show |
intron_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 307 | 0.0033 | 5198 | c.327 others(5215): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
GALNT9_chr12_132191372_132334589 | 132241883 | A | ACACACCC others(5194): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004 | 1 | 64 | 0.0156 | 5201 | c.107 others(5220): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5195): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0175 | 1 | 212 | 0.0047 | 5202 | c.225 others(5219): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5195): Show |
intron_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0003 | a0001c0003t0017 | a0001c0003t0017g0206 | 1 | 212 | 0.0047 | 5202 | c.225 others(5219): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5195): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0010 | a0001c0010t0012 | a0001c0010t0012g0002 | 1 | 212 | 0.0047 | 5202 | c.225 others(5219): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
BRF1_chr14_105204286_105306001 | 105239353 | C | CGTGGCAC others(5195): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 35 | 0.0286 | 5202 | c.694 others(5219): Show |
BRF1 | ENSG00000185024.18 | transcript | ENST00000547530.7 | protein_coding | 6/17 | chr14 | TogoVar | |||||||
PCDHB7_chr5_141167644_141181383 | 141174536 | C | CGGCTCCG others(5195): Show |
stop_gained others(1): Show |
HIGH | NA18967.hp1 NA18994.hp2 |
a0015a0028 | a0015c0037a0028c0038 | a0015c0037t0001a0028c0038t0001 | a0015c0037t0001g0000 a0028c0038t0001g0000 |
2 | 411 | 0.0049 | 5202 | c.170 others(5211): Show |
p.Asn others(5215): Show |
PCDHB7 | ENSG00000113212.7 | transcript | ENST00000231137.6 | protein_coding | 1/1 | 1894/3740 | 1702/2382 | 568/793 | chr5 | TogoVar | |||
PCDHB7_chr5_141167644_141181383 | 141174561 | T | TTGCCCCG others(5195): Show |
intragenic_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0044 | a0001c0044t0001 | a0001c0044t0001g0000 | 1 | 320 | 0.0031 | 5202 | n.141 others(5221): Show |
PCDHB7 | ENSG00000113212.7 | gene_variant | ENSG00000113212.7 | chr5 | TogoVar | |||||||||
PCDHB7_chr5_141167644_141181383 | 141174561 | T | TTGCCCCG others(5195): Show |
intragenic_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp2 others(45): Show |
a0001a0014a0020 | a0001c0002a0014c0057a0014c0058others(1): Show | a0001c0002t0001a0001c0002t0010a0014c0057t0001others(2): Show | a0001c0002t0001g0000 a0001c0002t0010g0000 a0014c0057t0001g0000 others(2): Show |
48 | 367 | 0.1308 | 5202 | n.141 others(5221): Show |
PCDHB7 | ENSG00000113212.7 | gene_variant | ENSG00000113212.7 | chr5 | TogoVar | |||||||||
PCDHB7_chr5_141167644_141181383 | 141174561 | T | TTGCCCCG others(5195): Show |
intragenic_variant | MODIFIER | HG00733.hp2 HG01515.hp2 HG02735.hp1 others(1): Show |
a0001 | a0001c0017 | a0001c0017t0001 | a0001c0017t0001g0000 | 4 | 323 | 0.0124 | 5202 | n.141 others(5221): Show |
PCDHB7 | ENSG00000113212.7 | gene_variant | ENSG00000113212.7 | chr5 | TogoVar | |||||||||
PCDHB7_chr5_141167644_141181383 | 141174561 | T | TTGCCCCG others(5195): Show |
intragenic_variant | MODIFIER | NA18950.hp2 | a0001 | a0001c0052 | a0001c0052t0001 | a0001c0052t0001g0000 | 1 | 320 | 0.0031 | 5202 | n.141 others(5221): Show |
PCDHB7 | ENSG00000113212.7 | gene_variant | ENSG00000113212.7 | chr5 | TogoVar | |||||||||
PCDHB7_chr5_141167644_141181383 | 141174561 | T | TTGCCCCG others(5195): Show |
3_prime_UTR_variant | MODIFIER | NA18966.hp2 | a0001 | a0001c0054 | a0001c0054t0001 | a0001c0054t0001g0000 | 1 | 320 | 0.0031 | 5202 | c.*94 others(5211): Show |
PCDHB7 | ENSG00000113212.7 | transcript | ENST00000231137.6 | protein_coding | 1/1 | 946 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHB7_chr5_141167644_141181383 | 141174561 | T | TTGCCCCG others(5195): Show |
3_prime_UTR_variant | MODIFIER | HG02738.hp2 | a0021 | a0021c0061 | a0021c0061t0001 | a0021c0061t0001g0000 | 1 | 320 | 0.0031 | 5202 | c.*80 others(5211): Show |
PCDHB7 | ENSG00000113212.7 | transcript | ENST00000231137.6 | protein_coding | 1/1 | 808 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
PCDHB7_chr5_141167644_141181383 | 141177158 | C | CTGTTTAC others(5195): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0000 | 1 | 414 | 0.0024 | 5202 | c.*19 others(5213): Show |
PCDHB7 | ENSG00000113212.7 | transcript | ENST00000231137.6 | protein_coding | 776 | chr5 | TogoVar | |||||||
PCDHB8_chr5_141172790_141185539 | 141174536 | C | CGGCTCCG others(5195): Show |
upstream_gene_variant | MODIFIER | NA18967.hp2 NA18994.hp1 |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0000 a0003c0003t0001g0000 |
2 | 408 | 0.0049 | 5202 | c.-34 others(5213): Show |
PCDHB8 | ENSG00000120322.5 | transcript | ENST00000239444.4 | protein_coding | 3253 | chr5 | TogoVar | |||||||
PCDHB8_chr5_141172790_141185539 | 141174561 | T | TTGCCCCG others(5195): Show |
upstream_gene_variant | MODIFIER | HG02818.hp2 | a0013 | a0013c0012 | a0013c0012t0001 | a0013c0012t0001g0000 | 1 | 316 | 0.0032 | 5202 | c.-34 others(5213): Show |
PCDHB8 | ENSG00000120322.5 | transcript | ENST00000239444.4 | protein_coding | 3228 | chr5 | TogoVar | |||||||
PCDHB8_chr5_141172790_141185539 | 141174561 | T | TTGCCCCG others(5195): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00423.hp2 HG00438.hp1 others(49): Show |
a0002a0003a0009others(1): Show | a0002c0002a0003c0003a0009c0008others(1): Show | a0002c0002t0001a0003c0003t0001a0009c0008t0001others(1): Show | a0002c0002t0001g0000 a0003c0003t0001g0000 a0009c0008t0001g0000 others(1): Show |
52 | 367 | 0.1417 | 5202 | c.-34 others(5213): Show |
PCDHB8 | ENSG00000120322.5 | transcript | ENST00000239444.4 | protein_coding | 3228 | chr5 | TogoVar | |||||||
PCDHB8_chr5_141172790_141185539 | 141174561 | T | TTGCCCCG others(5195): Show |
upstream_gene_variant | MODIFIER | HG00733.hp1 HG01515.hp2 HG02735.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 4 | 319 | 0.0125 | 5202 | c.-34 others(5213): Show |
PCDHB8 | ENSG00000120322.5 | transcript | ENST00000239444.4 | protein_coding | 3228 | chr5 | TogoVar | |||||||
PCDHB8_chr5_141172790_141185539 | 141174561 | T | TTGCCCCG others(5195): Show |
upstream_gene_variant | MODIFIER | NA18950.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 1 | 316 | 0.0032 | 5202 | c.-34 others(5213): Show |
PCDHB8 | ENSG00000120322.5 | transcript | ENST00000239444.4 | protein_coding | 3228 | chr5 | TogoVar | |||||||
PCDHB8_chr5_141172790_141185539 | 141174561 | T | TTGCCCCG others(5195): Show |
upstream_gene_variant | MODIFIER | HG02738.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 1 | 316 | 0.0032 | 5202 | c.-34 others(5213): Show |
PCDHB8 | ENSG00000120322.5 | transcript | ENST00000239444.4 | protein_coding | 3228 | chr5 | TogoVar | |||||||
PCDHB8_chr5_141172790_141185539 | 141177158 | C | CTGTTTAC others(5195): Show |
upstream_gene_variant | MODIFIER | HG01433.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 1 | 412 | 0.0024 | 5202 | c.-87 others(5211): Show |
PCDHB8 | ENSG00000120322.5 | transcript | ENST00000239444.4 | protein_coding | 631 | chr5 | TogoVar | |||||||
PCDHB8_chr5_141172790_141185539 | 141179179 | T | TAAGTTGC others(5195): Show |
stop_gained others(1): Show |
HIGH | NA18966.hp1 | a0023 | a0023c0038 | a0023c0038t0001 | a0023c0038t0001g0000 | 1 | 412 | 0.0024 | 5202 | c.184 others(5211): Show |
p.Leu others(5215): Show |
PCDHB8 | ENSG00000120322.5 | transcript | ENST00000239444.4 | protein_coding | 1/1 | 2090/2750 | 1845/2406 | 615/801 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
PCDHB8_chr5_141172790_141185539 | 141179831 | G | GAACGCCT others(5196): Show |
frameshift_variant others(1): Show |
HIGH | NA19086.hp1 | a0023 | a0023c0039 | a0023c0039t0001 | a0023c0039t0001g0000 | 1 | 412 | 0.0024 | 5203 | c.184 others(5212): Show |
p.Cys others(5): Show |
PCDHB8 | ENSG00000120322.5 | transcript | ENST00000239444.4 | protein_coding | 1/1 | 2090/2750 | 1845/2406 | 615/801 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||
ATP10A_chr15_25673712_25868327 | 25758764 | T | TCACCTGC others(5197): Show |
intron_variant | MODIFIER | HG00609.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0267 | 1 | 170 | 0.0059 | 5204 | c.654 others(5223): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar |