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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5186): Show |
intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0013 | 1 | 50 | 0.0200 | 5193 | c.287 others(5212): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 3/6 | chrX | TogoVar | |||||||
DHRSX_chrX_2214506_2505976 | 2320508 | T | TTGGTCTC others(5188): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0009 | a0009c0010 | a0009c0010t0014 | a0009c0010t0014g0046 | 1 | 50 | 0.0200 | 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 | 183 | 0.0055 | 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 | 80 | 0.0125 | 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 | a0001c0001t0001g0021 | 1 | 50 | 0.0200 | 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 | a0001c0001t0001g0156 | 1 | 344 | 0.0029 | 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 | 183 | 0.0055 | 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 | 318 | 0.0031 | 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 | 318 | 0.0031 | 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 | 318 | 0.0031 | 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 | 72 | 0.0139 | 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 | 416 | 0.0048 | 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 | 416 | 0.0024 | 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 | 416 | 0.1154 | 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 | 416 | 0.0096 | 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 | 416 | 0.0024 | 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 | 416 | 0.0024 | 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 | 416 | 0.0024 | 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 | 416 | 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 | 414 | 0.0048 | 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 | 414 | 0.0024 | 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 | 414 | 0.1256 | 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 | 414 | 0.0097 | 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 | 414 | 0.0024 | 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 | 414 | 0.0024 | 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 | 414 | 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 | 414 | 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 | 414 | 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 | 300 | 0.0033 | 5204 | c.654 others(5223): Show |
ATP10A | ENSG00000206190.13 | transcript | ENST00000555815.7 | protein_coding | 2/20 | chr15 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5198): Show |
intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0204 | 1 | 318 | 0.0031 | 5205 | c.225 others(5222): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
PIEZO1_chr16_88710338_88790220 | 88731922 | A | AGAGGGCG others(5198): Show |
intron_variant | MODIFIER | HG01358.hp1 | a0001 | a0001c0022 | a0001c0022t0001 | a0001c0022t0001g0097 | 1 | 282 | 0.0036 | 5205 | c.299 others(5220): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5199): Show |
intron_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0003 | a0001c0003t0020 | a0001c0003t0020g0181 | 1 | 318 | 0.0031 | 5206 | c.225 others(5223): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
DOCK1_chr10_126900428_127457516 | 126948184 | A | ATGGTGGT others(5199): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0047 | 1 | 136 | 0.0074 | 5206 | c.47- others(5223): Show |
DOCK1 | ENSG00000150760.13 | transcript | ENST00000623213.2 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
GALNT9_chr12_132191372_132334589 | 132241748 | A | ACACACAC others(5199): Show |
intron_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 183 | 0.0055 | 5206 | c.107 others(5225): Show |
GALNT9 | ENSG00000182870.13 | transcript | ENST00000328957.13 | protein_coding | 6/10 | chr12 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5199): Show |
upstream_gene_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0060 | 1 | 251 | 0.0040 | 5206 | c.-45 others(5215): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
AFAP1_chr4_7753714_7944861 | 7863942 | T | TCACAACC others(5200): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0002 | a0001c0003t0002g0208 | 1 | 318 | 0.0031 | 5207 | c.225 others(5224): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | |||||||
RTEL1_chr20_63653312_63701245 | 63693732 | T | TCCACCTC others(5200): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0028 | 1 | 60 | 0.0167 | 5207 | c.299 others(5224): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
MYH1_chr17_10487307_10523542 | 10520987 | T | TAGAACAG others(5202): Show |
upstream_gene_variant | MODIFIER | NA18983.hp1 NA19070.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 a0001c0001t0001g0172 |
2 | 360 | 0.0056 | 5209 | c.-25 others(5220): Show |
MYH1 | ENSG00000109061.10 | transcript | ENST00000226207.6 | protein_coding | 2446 | chr17 | TogoVar | |||||||
MYH2_chr17_10516148_10554658 | 10520987 | T | TAGAACAG others(5202): Show |
downstream_gene_variant | MODIFIER | NA18965.hp2 NA18973.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0105 a0001c0002t0001g0106 |
2 | 352 | 0.0057 | 5209 | c.*29 others(5218): Show |
MYH2 | ENSG00000125414.19 | transcript | ENST00000245503.10 | protein_coding | 160 | chr17 | TogoVar | |||||||
PRAMEF4_chr1_12874212_12891201 | 12880509 | T | TAGGTTGC others(5202): Show |
intron_variant | MODIFIER | NA18939.hp2 NA18945.hp2 NA18982.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 4 | 324 | 0.0124 | 5209 | c.876 others(5224): Show |
PRAMEF4 | ENSG00000243073.4 | transcript | ENST00000235349.6 | protein_coding | 3/3 | chr1 | TogoVar | |||||||
MYH1_chr17_10487307_10523542 | 10520987 | T | TAGAACAG others(5203): Show |
upstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 360 | 0.0028 | 5210 | c.-25 others(5221): Show |
MYH1 | ENSG00000109061.10 | transcript | ENST00000226207.6 | protein_coding | 2446 | chr17 | TogoVar | |||||||
MYH2_chr17_10516148_10554658 | 10520987 | T | TAGAACAG others(5203): Show |
downstream_gene_variant | MODIFIER | NA18959.hp2 NA18967.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0032 a0001c0002t0001g0101 |
2 | 352 | 0.0057 | 5210 | c.*29 others(5219): Show |
MYH2 | ENSG00000125414.19 | transcript | ENST00000245503.10 | protein_coding | 160 | chr17 | TogoVar | |||||||
RTEL1_chr20_63653312_63701245 | 63693726 | A | ACCTCCAC others(5203): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0042 | 1 | 60 | 0.0167 | 5210 | c.299 others(5227): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TRPM2_chr21_44348621_44447644 | 44407131 | A | ATTCCTCC others(5203): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0022 | 1 | 44 | 0.0227 | 5210 | c.296 others(5227): Show |
TRPM2 | ENSG00000142185.18 | transcript | ENST00000397928.6 | protein_coding | 19/31 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716491 | G | GGGGAGGA others(5205): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0007 | a0007c0026 | a0007c0026t0001 | a0007c0026t0001g0167 | 1 | 170 | 0.0059 | 5212 | c.86- others(5225): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
C2orf80_chr2_208160347_208195030 | 208176945 | A | ATACATAT others(5206): Show |
intron_variant | MODIFIER | NA18991.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0105 | 1 | 342 | 0.0029 | 5213 | c.366 others(5230): Show |
C2orf80 | ENSG00000188674.11 | transcript | ENST00000341287.9 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
MEIS3_chr19_47398124_47424527 | 47419530 | T | TCTCTGTG others(5207): Show |
upstream_gene_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0117 | 1 | 251 | 0.0040 | 5214 | c.-45 others(5223): Show |
MEIS3 | ENSG00000105419.18 | transcript | ENST00000558555.6 | protein_coding | 4 | chr19 | TogoVar | |||||||
CNOT3_chr19_54132762_54160681 | 54133829 | C | CTTCCTCC others(5209): Show |
upstream_gene_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 223 | 0.0045 | 5216 | c.-42 others(5227): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3932 | chr19 | TogoVar | |||||||
PRPF31_chr19_54110754_54136713 | 54133829 | C | CTTCCTCC others(5209): Show |
downstream_gene_variant | MODIFIER | HG02165.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 227 | 0.0044 | 5216 | c.*23 others(5227): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2117 | chr19 | TogoVar | |||||||
MUC6_chr11_1007823_1041718 | 1017981 | T | TGTGATGG others(5210): Show |
conservative_inframe_insertion | MODERATE | HG03209.hp1 | a0010 | a0010c0198 | a0010c0198t0001 | a0010c0198t0001g0088 | 1 | 406 | 0.0025 | 5217 | c.481 others(5226): Show |
p.Ser others(5232): Show |
MUC6 | ENSG00000184956.16 | transcript | ENST00000421673.7 | protein_coding | 31/33 | 4882/8016 | 4819/7320 | 1607/2439 | chr11 | TogoVar |