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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
IQSEC3_chr12_61767_183455 | 163282 | A | ACAGAACC others(1673): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0002 | a0002c0001 | a0002c0001t0006 | a0002c0001t0006g0085 | 1 | 282 | 0.0036 | 1680 | c.258 others(1697): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859711 | A | ATGGGTGT others(1673): Show |
intron_variant | MODIFIER | HG02040.hp2 | a0002 | a0002c0007 | a0002c0007t0001 | a0002c0007t0001g0172 | 1 | 294 | 0.0034 | 1680 | c.153 others(1699): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859711 | A | ATGGGTGT others(1673): Show |
intron_variant | MODIFIER | HG02273.hp2 | a0002 | a0002c0017 | a0002c0017t0001 | a0002c0017t0001g0081 | 1 | 294 | 0.0034 | 1680 | c.153 others(1699): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859711 | A | ATGGGTGT others(1673): Show |
intron_variant | MODIFIER | HG01099.hp2 | a0001 | a0001c0013 | a0001c0013t0001 | a0001c0013t0001g0094 | 1 | 294 | 0.0034 | 1680 | c.153 others(1699): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859711 | A | ATGGGTGT others(1673): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0002 | a0002c0058 | a0002c0058t0001 | a0002c0058t0001g0114 | 1 | 294 | 0.0034 | 1680 | c.153 others(1699): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195775965 | C | CCATACCT others(1673): Show |
intron_variant | MODIFIER | HG03710.hp2 | a0115 | a0115c0042 | a0115c0042t0002 | a0115c0042t0002g0125 | 1 | 249 | 0.0040 | 1680 | c.129 others(1701): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 3/24 | chr3 | TogoVar | |||||||
MUC4_chr3_195741771_195816929 | 195787643 | G | GAGGGGTG others(1673): Show |
conservative_inframe_insertion | MODERATE | HG01081.hp2 | a0044 | a0044c0045 | a0044c0045t0001 | a0044c0045t0001g0187 | 1 | 249 | 0.0040 | 1680 | c.393 others(1689): Show |
p.Pro others(1695): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4048/16756 | 3936/16239 | 1312/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787643 | G | GAGGGGTG others(1673): Show |
conservative_inframe_insertion | MODERATE | HG03579.hp2 | a0111 | a0111c0044 | a0111c0044t0001 | a0111c0044t0001g0083 | 1 | 249 | 0.0040 | 1680 | c.393 others(1689): Show |
p.Pro others(1695): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4048/16756 | 3936/16239 | 1312/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787643 | G | GAGGGGTG others(1673): Show |
conservative_inframe_insertion | MODERATE | NA18977.hp2 | a0134 | a0134c0028 | a0134c0028t0001 | a0134c0028t0001g0155 | 1 | 249 | 0.0040 | 1680 | c.393 others(1689): Show |
p.Pro others(1695): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4048/16756 | 3936/16239 | 1312/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195787643 | G | GAGGGGTG others(1673): Show |
conservative_inframe_insertion | MODERATE | NA18985.hp2 | a0138 | a0138c0043 | a0138c0043t0001 | a0138c0043t0001g0175 | 1 | 249 | 0.0040 | 1680 | c.393 others(1689): Show |
p.Pro others(1695): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4048/16756 | 3936/16239 | 1312/5412 | chr3 | TogoVar | |||
MUC4_chr3_195741771_195816929 | 195788447 | T | TGGTGAGA others(1673): Show |
conservative_inframe_insertion | MODERATE | NA18977.hp2 | a0134 | a0134c0028 | a0134c0028t0001 | a0134c0028t0001g0155 | 1 | 249 | 0.0040 | 1680 | c.313 others(1689): Show |
p.Thr others(1695): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3244/16756 | 3132/16239 | 1044/5412 | chr3 | TogoVar | |||
PAK2_chr3_196734857_196837647 | 196811271 | T | TTCCTTCC others(1673): Show |
intron_variant | MODIFIER | HG02027.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0128 | 1 | 178 | 0.0056 | 1680 | c.773 others(1695): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PDPK1_chr16_2533021_2608188 | 2551837 | T | TTTTGTAT others(1673): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 | 1 | 184 | 0.0054 | 1680 | c.25- others(1695): Show |
PDPK1 | ENSG00000140992.19 | transcript | ENST00000342085.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RFC1_chr4_39282456_39371362 | 39348471 | A | AGGGAAGG others(1673): Show |
intron_variant | MODIFIER | NA19005.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0056 | 1 | 276 | 0.0036 | 1680 | c.132 others(1697): Show |
RFC1 | ENSG00000035928.17 | transcript | ENST00000349703.7 | protein_coding | 2/24 | chr4 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 273051 | A | AGAGACCC others(1673): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0011 | a0011c0014 | a0011c0014t0023 | a0011c0014t0023g0125 | 1 | 133 | 0.0075 | 1680 | c.438 others(1697): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RPH3AL_chr17_207389_357807 | 273516 | T | TGACGTCA others(1673): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 133 | 0.0075 | 1680 | c.438 others(1697): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1673): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01074.hp1 HG01358.hp1 others(2): Show |
a0001a0002a0003 | a0001c0002a0002c0001a0003c0004others(1): Show | a0001c0002t0002a0002c0001t0001a0003c0004t0016others(1): Show | a0001c0002t0002g0097 a0002c0001t0001g0106 a0002c0001t0001g0107 others(2): Show |
5 | 134 | 0.0373 | 1680 | c.-28 others(1699): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1673): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02132.hp1 HG02602.hp1 others(14): Show |
a0001a0002a0003others(1): Show | a0001c0002a0002c0001a0003c0004others(1): Show | a0001c0002t0002a0002c0001t0001a0003c0004t0001others(1): Show | a0001c0002t0002g0002 a0001c0002t0002g0006 a0001c0002t0002g0072 others(14): Show |
17 | 134 | 0.1269 | 1680 | c.-28 others(1699): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1673): Show |
intron_variant | MODIFIER | HG02056.hp1 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0092 | 1 | 134 | 0.0075 | 1680 | c.-28 others(1699): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1673): Show |
intron_variant | MODIFIER | HG00738.hp1 HG02040.hp1 NA18971.hp1 others(1): Show |
a0001a0002 | a0001c0002a0002c0001 | a0001c0002t0002a0002c0001t0001a0002c0001t0020 | a0001c0002t0002g0061 a0002c0001t0001g0077 a0002c0001t0001g0091 others(1): Show |
4 | 134 | 0.0299 | 1680 | c.-28 others(1699): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
RTL4_chrX_112078016_112462514 | 112310514 | A | AATATATG others(1673): Show |
intron_variant | MODIFIER | HG01167.hp1 | a0002 | a0002c0001 | a0002c0001t0014 | a0002c0001t0014g0115 | 1 | 134 | 0.0075 | 1680 | c.-28 others(1699): Show |
RTL4 | ENSG00000187823.4 | transcript | ENST00000695839.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
SLC10A7_chr4_146248981_146526940 | 146286440 | C | CTGGAGTG others(1673): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02109.hp2 HG02922.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0186 a0001c0001t0009g0188 a0001c0001t0009g0191 others(1): Show |
4 | 244 | 0.0164 | 1680 | c.774 others(1697): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146286440 | C | CTGGAGTG others(1673): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0194 | 1 | 244 | 0.0041 | 1680 | c.774 others(1697): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146286440 | C | CTGGAGTG others(1673): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00558.hp2 others(73): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0026 others(73): Show |
76 | 244 | 0.3115 | 1680 | c.774 others(1697): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146286440 | C | CTGGAGTG others(1673): Show |
intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02647.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(1): Show | a0001c0001t0003g0079 a0001c0001t0004g0210 a0001c0001t0004g0224 others(2): Show |
5 | 244 | 0.0205 | 1680 | c.774 others(1697): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146286440 | C | CTGGAGTG others(1673): Show |
intron_variant | MODIFIER | NA18986.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 244 | 0.0041 | 1680 | c.774 others(1697): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146286440 | C | CTGGAGTG others(1673): Show |
intron_variant | MODIFIER | NA19010.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0056 | 1 | 244 | 0.0041 | 1680 | c.774 others(1697): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146286440 | C | CTGGAGTG others(1673): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0097 | 1 | 244 | 0.0041 | 1680 | c.774 others(1697): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
SLC10A7_chr4_146248981_146526940 | 146286440 | C | CTGGAGTG others(1673): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 244 | 0.0041 | 1680 | c.774 others(1697): Show |
SLC10A7 | ENSG00000120519.16 | transcript | ENST00000335472.12 | protein_coding | 9/11 | chr4 | TogoVar | |||||||
SLC4A7_chr3_27367723_27489384 | 27489081 | T | TCCTAGGA others(1673): Show |
upstream_gene_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0070 | 1 | 302 | 0.0033 | 1680 | c.-49 others(1691): Show |
SLC4A7 | ENSG00000033867.18 | transcript | ENST00000454389.6 | protein_coding | 4698 | chr3 | TogoVar | |||||||
SLC4A7_chr3_27367723_27489384 | 27489081 | T | TCCTAGGA others(1673): Show |
upstream_gene_variant | MODIFIER | HG01243.hp1 HG01884.hp2 HG02258.hp1 others(9): Show |
a0001a0007 | a0001c0001a0001c0016a0007c0015 | a0001c0001t0007a0001c0001t0020a0001c0016t0007others(1): Show | a0001c0001t0007g0038 a0001c0001t0007g0039 a0001c0001t0007g0040 others(9): Show |
12 | 302 | 0.0397 | 1680 | c.-49 others(1691): Show |
SLC4A7 | ENSG00000033867.18 | transcript | ENST00000454389.6 | protein_coding | 4698 | chr3 | TogoVar | |||||||
SPIRE2_chr16_89823475_89876319 | 89852955 | A | ATCCTCCC others(1673): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0336 | 1 | 356 | 0.0028 | 1680 | c.646 others(1697): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMEM132D_chr12_129066726_129909025 | 129828722 | A | AGGAGGGA others(1673): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0053 | 1 | 94 | 0.0106 | 1680 | c.79+ others(1697): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
TMEM132D_chr12_129066726_129909025 | 129828745 | A | AGGGAGGG others(1673): Show |
intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0015 | a0001c0015t0001 | a0001c0015t0001g0062 | 1 | 94 | 0.0106 | 1680 | c.79+ others(1697): Show |
TMEM132D | ENSG00000151952.16 | transcript | ENST00000422113.7 | protein_coding | 1/8 | chr12 | TogoVar | |||||||
TMIGD1_chr17_30311333_30339057 | 30338426 | T | TCTTCTTC others(1673): Show |
upstream_gene_variant | MODIFIER | HG02615.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 348 | 0.0029 | 1680 | c.-44 others(1691): Show |
TMIGD1 | ENSG00000182271.13 | transcript | ENST00000328886.5 | protein_coding | 4370 | chr17 | TogoVar | |||||||
UCKL1_chr20_63934829_63961416 | 63948630 | G | GAGGGGTG others(1673): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 356 | 0.0028 | 1680 | c.114 others(1697): Show |
UCKL1 | ENSG00000198276.16 | transcript | ENST00000354216.11 | protein_coding | 1/14 | chr20 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111297 | C | CACCACAG others(1674): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0075 | 1 | 368 | 0.0027 | 1681 | c.401 others(1698): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111297 | C | CACCACGG others(1674): Show |
intron_variant | MODIFIER | NA18946.hp1 | a0004 | a0004c0040 | a0004c0040t0012 | a0004c0040t0012g0046 | 1 | 368 | 0.0027 | 1681 | c.401 others(1698): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(1674): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0014 | a0001c0014t0006 | a0001c0014t0006g0017 | 1 | 298 | 0.0034 | 1681 | c.955 others(1698): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(1674): Show |
downstream_gene_variant | MODIFIER | HG00642.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 240 | 0.0042 | 1681 | c.*31 others(1692): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
CYSLTR1_chrX_78266468_78332611 | 78269606 | A | AATACAGA others(1674): Show |
downstream_gene_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 | 1 | 240 | 0.0042 | 1681 | c.*31 others(1692): Show |
CYSLTR1 | ENSG00000173198.6 | transcript | ENST00000373304.4 | protein_coding | 1861 | chrX | TogoVar | |||||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1674): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0011 | a0011c0024 | a0011c0024t0001 | a0011c0024t0001g0036 | 1 | 152 | 0.0066 | 1681 | c.289 others(1700): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
DCDC1_chr11_30858603_31374739 | 30928614 | A | ATTACCAT others(1674): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0028 | a0028c0035 | a0028c0035t0003 | a0028c0035t0003g0143 | 1 | 152 | 0.0066 | 1681 | c.289 others(1700): Show |
DCDC1 | ENSG00000170959.15 | transcript | ENST00000684477.1 | protein_coding | 22/38 | chr11 | TogoVar | |||||||
DNAJB6_chr7_157332004_157422439 | 157369865 | C | CACATTAT others(1674): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0348 | 1 | 372 | 0.0027 | 1681 | c.346 others(1698): Show |
DNAJB6 | ENSG00000105993.15 | transcript | ENST00000262177.9 | protein_coding | 5/9 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
KDM2B_chr12_121424096_121586023 | 121514828 | C | CTCCCCAC others(1674): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0180 | 1 | 270 | 0.0037 | 1681 | c.104 others(1700): Show |
KDM2B | ENSG00000089094.20 | transcript | ENST00000377071.9 | protein_coding | 9/22 | chr12 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 859711 | A | ATGGGTGT others(1674): Show |
intron_variant | MODIFIER | HG00423.hp2 NA19011.hp1 |
a0002 | a0002c0016a0002c0055 | a0002c0016t0001a0002c0055t0001 | a0002c0016t0001g0076 a0002c0055t0001g0206 |
2 | 294 | 0.0068 | 1681 | c.153 others(1700): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | |||||||
NKD2_chr5_1003802_1043943 | 1024839 | T | TCTGTGGG others(1674): Show |
intron_variant | MODIFIER | HG02273.hp1 HG03130.hp1 |
a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0073 a0001c0001t0013g0074 |
2 | 319 | 0.0063 | 1681 | c.142 others(1698): Show |
NKD2 | ENSG00000145506.14 | transcript | ENST00000296849.10 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDPK1_chr16_2533021_2608188 | 2551837 | T | TTTTGTAT others(1674): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 184 | 0.0054 | 1681 | c.25- others(1696): Show |
PDPK1 | ENSG00000140992.19 | transcript | ENST00000342085.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
PTPN9_chr15_75458251_75584315 | 75503576 | T | TCCGTCCG others(1674): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 326 | 0.0031 | 1681 | c.968 others(1698): Show |
PTPN9 | ENSG00000169410.11 | transcript | ENST00000618819.5 | protein_coding | 7/12 | chr15 | TogoVar | |||||||
PTPN9_chr15_75458251_75584315 | 75503576 | T | TCCGTCCG others(1674): Show |
intron_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0007 | a0001c0007t0003 | a0001c0007t0003g0016 | 1 | 326 | 0.0031 | 1681 | c.968 others(1698): Show |
PTPN9 | ENSG00000169410.11 | transcript | ENST00000618819.5 | protein_coding | 7/12 | chr15 | TogoVar |