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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NAALADL2_chr3_174854334_175815548 | 175013099 | T | TATGTAAT others(98): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02451.hp1 |
a0002a0003 | a0002c0007a0003c0004 | a0002c0007t0024a0003c0004t0033 | a0002c0007t0024g0049 a0003c0004t0033g0022 |
2 | 64 | 0.0313 | 105 | c.44- others(122): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NAALADL2_chr3_174854334_175815548 | 175013100 | A | ATGTAATA others(98): Show |
intron_variant | MODIFIER | HG01255.hp1 HG01978.hp2 HG02109.hp2 others(1): Show |
a0004a0005a0006others(1): Show | a0004c0008a0005c0011a0006c0010others(1): Show | a0004c0008t0002a0005c0011t0001a0006c0010t0009others(1): Show | a0004c0008t0002g0062 a0005c0011t0001g0053 a0006c0010t0009g0054 others(1): Show |
4 | 64 | 0.0625 | 105 | c.44- others(122): Show |
NAALADL2 | ENSG00000177694.16 | transcript | ENST00000454872.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
NBAS_chr2_15161916_15566334 | 15428915 | T | TGCCTCCC others(98): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02922.hp2 HG03453.hp2 |
a0001a0003 | a0001c0001a0003c0005a0003c0010 | a0001c0001t0001a0003c0005t0001a0003c0010t0001 | a0001c0001t0001g0098 a0003c0005t0001g0099 a0003c0010t0001g0097 |
3 | 224 | 0.0134 | 105 | c.234 others(124): Show |
NBAS | ENSG00000151779.14 | transcript | ENST00000281513.10 | protein_coding | 21/51 | chr2 | TogoVar | |||||||
NCOR1_chr17_16024157_16220534 | 16095666 | G | GGGGGGTC others(98): Show |
intron_variant | MODIFIER | HG01192.hp2 HG02615.hp1 HG02809.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0035 a0001c0001t0001g0037 a0001c0001t0001g0041 others(1): Show |
4 | 282 | 0.0142 | 105 | c.282 others(124): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 21/45 | chr17 | TogoVar | |||||||
NCOR1_chr17_16024157_16220534 | 16095667 | G | GGGGGTCA others(98): Show |
intron_variant | MODIFIER | HG00408.hp1 NA18949.hp2 NA18999.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0180 a0001c0001t0002g0201 a0001c0001t0002g0202 |
3 | 282 | 0.0106 | 105 | c.282 others(124): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 21/45 | chr17 | TogoVar | |||||||
NCOR1_chr17_16024157_16220534 | 16095667 | G | GGGGGTCA others(98): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01243.hp1 HG01884.hp2 others(10): Show |
a0001a0010a0013 | a0001c0001a0010c0024a0013c0018 | a0001c0001t0002a0001c0001t0027a0010c0024t0002others(1): Show | a0001c0001t0002g0024 a0001c0001t0002g0187 a0001c0001t0002g0204 others(10): Show |
13 | 282 | 0.0461 | 105 | c.282 others(124): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 21/45 | chr17 | TogoVar | |||||||
NCOR1_chr17_16024157_16220534 | 16095667 | G | GGGGGTCA others(98): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 1 | 282 | 0.0036 | 105 | c.282 others(124): Show |
NCOR1 | ENSG00000141027.23 | transcript | ENST00000268712.8 | protein_coding | 21/45 | chr17 | TogoVar | |||||||
NEU4_chr2_241804193_241822413 | 241806119 | T | TCCCCCCT others(98): Show |
upstream_gene_variant | MODIFIER | HG01081.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0090 | 1 | 319 | 0.0031 | 105 | c.-31 others(116): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3073 | chr2 | TogoVar | |||||||
NF1_chr17_31089977_31382675 | 31335274 | T | TTATATAT others(98): Show |
intron_variant | MODIFIER | HG00741.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0227 | 1 | 252 | 0.0040 | 105 | c.600 others(122): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 40/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NF1_chr17_31089977_31382675 | 31335274 | T | TTATATAT others(98): Show |
intron_variant | MODIFIER | HG01891.hp2 HG02109.hp1 HG03471.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0027 | a0001c0001t0003g0131 a0001c0001t0003g0136 a0001c0001t0003g0137 others(2): Show |
5 | 252 | 0.0198 | 105 | c.600 others(122): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 40/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NF1_chr17_31089977_31382675 | 31335274 | T | TTATATAT others(98): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01255.hp2 HG01346.hp2 others(22): Show |
a0001a0002a0007 | a0001c0001a0001c0024a0002c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0007others(4): Show | a0001c0001t0001g0035 a0001c0001t0001g0053 a0001c0001t0001g0056 others(22): Show |
25 | 252 | 0.0992 | 105 | c.600 others(122): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 40/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NF1_chr17_31089977_31382675 | 31335274 | T | TTATATAT others(98): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0005 | 1 | 252 | 0.0040 | 105 | c.600 others(122): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 40/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NF1_chr17_31089977_31382675 | 31335274 | T | TTTTATAT others(98): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0005 | a0005c0020 | a0005c0020t0001 | a0005c0020t0001g0089 | 1 | 252 | 0.0040 | 105 | c.600 others(122): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 40/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NF1_chr17_31089977_31382675 | 31335290 | A | ATATATGT others(98): Show |
intron_variant | MODIFIER | HG02148.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0093 | 1 | 252 | 0.0040 | 105 | c.600 others(122): Show |
NF1 | ENSG00000196712.20 | transcript | ENST00000358273.9 | protein_coding | 40/57 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
NLGN4X_chrX_5885042_6233867 | 6049227 | A | AAGGGGAA others(98): Show |
intron_variant | MODIFIER | NA18956.hp2 NA18961.hp1 NA18962.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 a0001c0001t0001g0118 a0001c0001t0001g0119 others(1): Show |
4 | 128 | 0.0313 | 105 | c.473 others(124): Show |
NLGN4X | ENSG00000146938.16 | transcript | ENST00000381095.8 | protein_coding | 2/5 | chrX | TogoVar | |||||||
NOC4L_chr12_132139457_132157468 | 132156783 | C | CACCACTA others(98): Show |
downstream_gene_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0005 | 1 | 294 | 0.0034 | 105 | c.*43 others(116): Show |
NOC4L | ENSG00000184967.7 | transcript | ENST00000330579.6 | protein_coding | 4316 | chr12 | TogoVar | |||||||
NOX1_chrX_100838324_100879359 | 100853337 | T | TCTTTCTT others(98): Show |
intron_variant | MODIFIER | HG01069.hp1 HG01071.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0012 | 2 | 302 | 0.0066 | 105 | c.805 others(122): Show |
NOX1 | ENSG00000007952.18 | transcript | ENST00000372966.8 | protein_coding | 7/12 | chrX | TogoVar | |||||||
NRBF2_chr10_63128328_63160024 | 63133977 | T | TCACTTCC others(98): Show |
intron_variant | MODIFIER | NA18947.hp1 NA18960.hp2 NA19000.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0249 a0001c0001t0003g0250 a0001c0001t0003g0251 others(3): Show |
6 | 392 | 0.0153 | 105 | c.30+ others(118): Show |
NRBF2 | ENSG00000148572.16 | transcript | ENST00000277746.11 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
NRF1_chr7_129606720_129762076 | 129749307 | A | AGGGGGGG others(98): Show |
intron_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0162 | 1 | 384 | 0.0026 | 105 | c.134 others(124): Show |
NRF1 | ENSG00000106459.15 | transcript | ENST00000393232.6 | protein_coding | 10/10 | chr7 | TogoVar | |||||||
NRROS_chr3_196634694_196667004 | 196634750 | T | TAGAGAAG others(98): Show |
upstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0052 | 1 | 472 | 0.0021 | 105 | c.-51 others(116): Show |
NRROS | ENSG00000174004.6 | transcript | ENST00000328557.5 | protein_coding | 4943 | chr3 | TogoVar | |||||||
NTRK2_chr9_84664729_85032054 | 84797660 | T | TTATATAT others(98): Show |
intron_variant | MODIFIER | HG01106.hp2 HG01123.hp1 HG01256.hp1 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0047 a0001c0001t0002g0035 a0001c0001t0002g0056 others(13): Show |
16 | 170 | 0.0941 | 105 | c.139 others(126): Show |
NTRK2 | ENSG00000148053.18 | transcript | ENST00000277120.8 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
NWD1_chr19_16714847_16822953 | 16738003 | A | AAGAAAAG others(98): Show |
intron_variant | MODIFIER | HG02293.hp1 | a0017 | a0017c0026 | a0017c0026t0002 | a0017c0026t0002g0083 | 1 | 300 | 0.0033 | 105 | c.198 others(122): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 4/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ODF3L2_chr19_458361_479983 | 458609 | C | CGGGGAGG others(98): Show |
downstream_gene_variant | MODIFIER | HG02818.hp1 HG02976.hp2 HG03139.hp1 others(3): Show |
a0002a0006 | a0002c0012a0006c0010 | a0002c0012t0002a0006c0010t0004 | a0002c0012t0002g0175 a0002c0012t0002g0176 a0006c0010t0004g0058 others(3): Show |
6 | 324 | 0.0185 | 105 | c.*52 others(116): Show |
ODF3L2 | ENSG00000181781.10 | transcript | ENST00000315489.5 | protein_coding | 4751 | chr19 | TogoVar | |||||||
OLFM1_chr9_135082668_135126180 | 135093284 | C | CCGTTCTC others(98): Show |
intron_variant | MODIFIER | NA19084.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0256 | 1 | 360 | 0.0028 | 105 | c.301 others(122): Show |
OLFM1 | ENSG00000130558.20 | transcript | ENST00000371793.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133140934 | A | AGAAGAAG others(98): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0029 | 1 | 68 | 0.0147 | 105 | c.62- others(124): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | |||||||
OPRL1_chr20_64075082_64105633 | 64094358 | G | GGCAGTGT others(98): Show |
intron_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0017 | 1 | 66 | 0.0152 | 105 | c.233 others(122): Show |
OPRL1 | ENSG00000125510.18 | transcript | ENST00000336866.7 | protein_coding | 3/4 | chr20 | TogoVar | |||||||
OPTN_chr10_13095163_13143308 | 13115422 | A | ATATATAA others(98): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG01070.hp1 others(10): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0004a0002c0003t0008 | a0001c0001t0001g0006 a0001c0001t0001g0172 a0001c0001t0001g0191 others(9): Show |
13 | 418 | 0.0311 | 105 | c.553 others(120): Show |
OPTN | ENSG00000123240.17 | transcript | ENST00000378747.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
OPTN_chr10_13095163_13143308 | 13115470 | A | AATATATA others(98): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0125 | 1 | 418 | 0.0024 | 105 | c.553 others(120): Show |
OPTN | ENSG00000123240.17 | transcript | ENST00000378747.8 | protein_coding | 5/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
OR10R2_chr1_158467220_158485936 | 158473904 | T | TCTGCTTC others(98): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0007 | a0007c0006 | a0007c0006t0001 | a0007c0006t0001g0066 | 1 | 446 | 0.0022 | 105 | c.27+ others(120): Show |
OR10R2 | ENSG00000198965.5 | transcript | ENST00000641067.1 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
OR2T12_chr1_248285139_248308424 | 248306505 | C | CCCTGAGG others(98): Show |
upstream_gene_variant | MODIFIER | HG00140.hp1 HG01934.hp2 HG01975.hp1 others(3): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0031 | a0001c0001t0001a0002c0002t0002a0002c0031t0002 | a0001c0001t0001g0108 a0001c0001t0001g0121 a0002c0002t0002g0002 others(1): Show |
6 | 406 | 0.0148 | 105 | c.-33 others(116): Show |
OR2T12 | ENSG00000177201.3 | transcript | ENST00000641276.1 | protein_coding | 3082 | chr1 | TogoVar | |||||||
OR4X1_chr11_48258861_48269778 | 48268292 | C | CTTTTATT others(98): Show |
downstream_gene_variant | MODIFIER | NA19089.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 1 | 402 | 0.0025 | 105 | c.*35 others(116): Show |
OR4X1 | ENSG00000176567.1 | transcript | ENST00000320048.1 | protein_coding | 3515 | chr11 | TogoVar | |||||||
OR5D18_chr11_55814630_55825571 | 55823223 | A | ATATATAT others(98): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp1 HG02559.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 4 | 434 | 0.0092 | 105 | c.*26 others(116): Show |
OR5D18 | ENSG00000186119.9 | transcript | ENST00000333976.7 | protein_coding | 2653 | chr11 | TogoVar | |||||||
OR5L2_chr11_55822219_55833154 | 55823223 | A | ATATATAT others(98): Show |
upstream_gene_variant | MODIFIER | HG01884.hp1 HG02055.hp1 HG02559.hp2 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0000 | 4 | 448 | 0.0089 | 105 | c.-39 others(116): Show |
OR5L2 | ENSG00000205030.1 | transcript | ENST00000378397.1 | protein_coding | 3995 | chr11 | TogoVar | |||||||
OR8K5_chr11_56154394_56165317 | 56164368 | C | CCTATTTT others(98): Show |
upstream_gene_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 1 | 436 | 0.0023 | 105 | c.-40 others(116): Show |
OR8K5 | ENSG00000181752.3 | transcript | ENST00000313447.1 | protein_coding | 4052 | chr11 | TogoVar | |||||||
P4HA2_chr5_132185147_132232853 | 132208400 | G | GAGGAGGG others(98): Show |
intron_variant | MODIFIER | NA18942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 426 | 0.0024 | 105 | c.904 others(120): Show |
P4HA2 | ENSG00000072682.20 | transcript | ENST00000360568.8 | protein_coding | 7/14 | chr5 | TogoVar | |||||||
PABPN1L_chr16_88858333_88871660 | 88859980 | C | CTACTTTC others(98): Show |
downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0017 | a0001c0017t0002 | a0001c0017t0002g0069 | 1 | 452 | 0.0022 | 105 | c.*37 others(116): Show |
PABPN1L | ENSG00000205022.9 | transcript | ENST00000419291.7 | protein_coding | 3352 | chr16 | TogoVar | |||||||
PALM_chr19_703935_753329 | 735513 | T | TGTGTCTG others(98): Show |
intron_variant | MODIFIER | HG02055.hp2 HG02818.hp2 HG02886.hp2 others(5): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0002t0002a0001c0003t0006 | a0001c0002t0001g0028 a0001c0002t0002g0004 a0001c0002t0002g0262 others(4): Show |
8 | 404 | 0.0198 | 105 | c.443 others(120): Show |
PALM | ENSG00000099864.18 | transcript | ENST00000338448.10 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
PARD3_chr10_34104561_34820296 | 34605950 | A | ATATATAT others(98): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0096 | 1 | 100 | 0.0100 | 105 | c.223 others(124): Show |
PARD3 | ENSG00000148498.17 | transcript | ENST00000374788.8 | protein_coding | 2/24 | chr10 | TogoVar | |||||||
PASD1_chrX_151558675_151681739 | 151562909 | G | GGGGGGCG others(98): Show |
upstream_gene_variant | MODIFIER | HG01884.hp2 HG02809.hp1 HG03195.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002a0001c0002t0003 | a0001c0001t0001g0175 a0001c0002t0002g0174 a0001c0002t0002g0178 others(3): Show |
6 | 221 | 0.0272 | 105 | c.-95 others(114): Show |
PASD1 | ENSG00000166049.11 | transcript | ENST00000370357.5 | protein_coding | 765 | chrX | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 82999547 | A | ATATTATA others(98): Show |
intron_variant | MODIFIER | HG02559.hp2 HG03195.hp2 HG03516.hp1 |
a0001a0039 | a0001c0003a0001c0060a0039c0084 | a0001c0003t0017a0001c0060t0017a0039c0084t0015 | a0001c0003t0017g0115 a0001c0060t0017g0116 a0039c0084t0015g0003 |
3 | 188 | 0.0160 | 105 | c.330 others(126): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCLO_chr7_82749012_83167884 | 83096963 | T | TATATTAT others(98): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0017 | a0017c0044 | a0017c0044t0011 | a0017c0044t0011g0036 | 1 | 188 | 0.0053 | 105 | c.330 others(126): Show |
PCLO | ENSG00000186472.20 | transcript | ENST00000333891.14 | protein_coding | 3/24 | chr7 | TogoVar | |||||||
PCMT1_chr6_149744741_149816419 | 149786239 | G | GGGACGGG others(98): Show |
intron_variant | MODIFIER | HG02523.hp1 NA18972.hp2 NA19002.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0255 a0001c0001t0001g0261 a0001c0001t0001g0267 others(4): Show |
7 | 334 | 0.0210 | 105 | c.193 others(122): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PCMT1_chr6_149744741_149816419 | 149786272 | C | CCCCCCCA others(98): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0312 | 1 | 334 | 0.0030 | 105 | c.193 others(122): Show |
PCMT1 | ENSG00000120265.21 | transcript | ENST00000464889.7 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
PCNX1_chr14_70902459_71120382 | 70910076 | T | TCCTCCCC others(98): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01358.hp2 HG03710.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0024 | a0001c0001t0002g0047 a0001c0001t0002g0050 a0001c0001t0024g0051 others(1): Show |
4 | 352 | 0.0114 | 105 | c.153 others(122): Show |
PCNX1 | ENSG00000100731.16 | transcript | ENST00000304743.7 | protein_coding | 1/35 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
PDIA6_chr2_10778391_10817785 | 10806648 | A | AAGAAGGA others(98): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01256.hp2 HG01258.hp2 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0019 a0001c0003t0001g0236 a0001c0003t0001g0237 others(2): Show |
6 | 342 | 0.0175 | 105 | c.20- others(120): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
PDIA6_chr2_10778391_10817785 | 10806648 | A | AAGAAGGA others(98): Show |
intron_variant | MODIFIER | HG00323.hp1 NA18945.hp1 NA19005.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0020 a0001c0003t0001g0245 |
3 | 342 | 0.0088 | 105 | c.20- others(120): Show |
PDIA6 | ENSG00000143870.13 | transcript | ENST00000272227.8 | protein_coding | 1/12 | chr2 | TogoVar | |||||||
PDXK_chr21_43714129_43767299 | 43741151 | G | GGCGGGGG others(98): Show |
intron_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0071 | 1 | 358 | 0.0028 | 105 | c.143 others(120): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741277 | C | CGCGGGGG others(98): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0026 | 1 | 358 | 0.0028 | 105 | c.143 others(120): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PDXK_chr21_43714129_43767299 | 43741372 | C | CGGGGGCC others(98): Show |
intron_variant | MODIFIER | HG01243.hp1 | a0001 | a0001c0001 | a0001c0001t0075 | a0001c0001t0075g0033 | 1 | 358 | 0.0028 | 105 | c.143 others(120): Show |
PDXK | ENSG00000160209.19 | transcript | ENST00000291565.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
PIGQ_chr16_564968_589109 | 585295 | A | ACCCCCAA others(98): Show |
downstream_gene_variant | MODIFIER | HG01433.hp1 | a0007 | a0007c0028 | a0007c0028t0003 | a0007c0028t0003g0110 | 1 | 408 | 0.0025 | 105 | c.*22 others(116): Show |
PIGQ | ENSG00000007541.17 | transcript | ENST00000321878.10 | protein_coding | 1187 | chr16 | TogoVar |