regionname | pos | ref | alt | annotation | impact | samples | ahapids | achapids | acthapids | actghapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
NUP62CL_chrX_107118427_107211433 | 107184291 | AAAGAGAA others(17): Show |
A | intron_variant | MODIFIER | HG01258.hp1 HG01884.hp1 HG02135.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0002g0002a0001c0001t0002g0003a0001c0001t0002g0009others(23): Show | 26 | 280 | 0.0929 | -24 | c.-48 others(41): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 2/8 | chrX | TogoVar | ||||||
NUP62CL_chrX_107118427_107211433 | 107184296 | GAAGAAAG others(17): Show |
G | intron_variant | MODIFIER | HG02970.hp1 NA18980.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0002c0002t0001 | a0001c0001t0003g0278a0002c0002t0001g0188 | 2 | 280 | 0.0071 | -24 | c.-48 others(41): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 2/8 | chrX | TogoVar | ||||||
NUP62CL_chrX_107118427_107211433 | 107204845 | TTTATTTA others(17): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01175.hp2 NA19002.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0096a0001c0001t0002g0097a0001c0001t0002g0098others(1): Show | 4 | 280 | 0.0143 | -24 | c.-92 others(41): Show |
NUP62CL | ENSG00000198088.10 | transcript | ENST00000372466.8 | protein_coding | 1/8 | chrX | TogoVar | ||||||
NUP93_chr16_56725129_56855286 | 56763503 | GGTGTGTG others(17): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00642.hp1 HG00733.hp2 others(12): Show |
a0001 | a0001c0002a0001c0011 | a0001c0002t0001a0001c0002t0010a0001c0002t0041others(1): Show | a0001c0002t0001g0001a0001c0002t0001g0051a0001c0002t0001g0070others(11): Show | 15 | 378 | 0.0397 | -24 | c.297 others(41): Show |
NUP93 | ENSG00000102900.13 | transcript | ENST00000308159.10 | protein_coding | 3/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
NUP98_chr11_3670019_3802554 | 3702301 | ACACACAC others(17): Show |
A | intron_variant | MODIFIER | HG03669.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0197 | 1 | 342 | 0.0029 | -24 | c.351 others(41): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 23/32 | chr11 | TogoVar | ||||||
NUP98_chr11_3670019_3802554 | 3702311 | ACACTCTC others(17): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG00741.hp1 HG01106.hp1 others(2): Show |
a0001a0002 | a0001c0032a0002c0008 | a0001c0032t0001a0002c0008t0001a0002c0008t0003 | a0001c0032t0001g0032a0002c0008t0001g0003a0002c0008t0003g0040others(2): Show | 5 | 342 | 0.0146 | -24 | c.351 others(41): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 23/32 | chr11 | TogoVar | ||||||
NUP98_chr11_3670019_3802554 | 3702313 | ACTCTCTC others(17): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02622.hp2 HG02895.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0292a0001c0001t0001g0294a0001c0001t0001g0296others(3): Show | 6 | 342 | 0.0175 | -24 | c.351 others(41): Show |
NUP98 | ENSG00000110713.18 | transcript | ENST00000324932.12 | protein_coding | 23/32 | chr11 | TogoVar | ||||||
NUTM2G_chr9_96923843_96944416 | 96930872 | GTTTTTTT others(17): Show |
G | intron_variant | MODIFIER | HG00621.hp1 HG01109.hp1 HG02015.hp2 others(18): Show |
a0001a0002a0016others(1): Show | a0001c0001a0002c0002a0002c0018others(3): Show | a0001c0001t0001a0002c0002t0003a0002c0018t0003others(3): Show | a0001c0001t0001g0012a0001c0001t0001g0111a0002c0002t0003g0009others(9): Show | 21 | 374 | 0.0562 | -24 | c.17- others(37): Show |
NUTM2G | ENSG00000188152.13 | transcript | ENST00000372322.4 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
NWD1_chr19_16714847_16822953 | 16787898 | AATAATAA others(17): Show |
A | intron_variant | MODIFIER | HG03195.hp2 | a0008 | a0008c0010 | a0008c0010t0047 | a0008c0010t0047g0005 | 1 | 300 | 0.0033 | -24 | c.273 others(43): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NWD1_chr19_16714847_16822953 | 16787901 | AATAATCA others(17): Show |
A | intron_variant | MODIFIER | NA20129.hp1 | a0008 | a0008c0010 | a0008c0010t0002 | a0008c0010t0002g0114 | 1 | 300 | 0.0033 | -24 | c.273 others(43): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NWD1_chr19_16714847_16822953 | 16787904 | AATCATCA others(17): Show |
A | intron_variant | MODIFIER | NA19043.hp1 NA19043.hp2 |
a0004a0006 | a0004c0005a0006c0044 | a0004c0005t0029a0006c0044t0001 | a0004c0005t0029g0265a0006c0044t0001g0255 | 2 | 300 | 0.0067 | -24 | c.273 others(43): Show |
NWD1 | ENSG00000188039.17 | transcript | ENST00000524140.7 | protein_coding | 12/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
NXF2_chrX_102242167_102331722 | 102274544 | CTTCTTCC others(17): Show |
C | intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0035 | 1 | 38 | 0.0263 | -24 | c.-54 others(43): Show |
NXF2 | ENSG00000269405.7 | transcript | ENST00000625106.4 | protein_coding | 2/22 | chrX | TogoVar | ||||||
NXNL1_chr19_17450425_17465926 | 17463777 | AAGAAGAA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG00544.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | -24 | c.-29 others(35): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2852 | chr19 | TogoVar | ||||||
NXNL1_chr19_17450425_17465926 | 17463783 | AAGAAGAA others(17): Show |
A | upstream_gene_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 408 | 0.0025 | -24 | c.-29 others(35): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2858 | chr19 | TogoVar | ||||||
NXNL1_chr19_17450425_17465926 | 17463789 | AAGAAGAA others(17): Show |
A | upstream_gene_variant | MODIFIER | HG01433.hp2 HG02698.hp1 NA18955.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0107 | 4 | 408 | 0.0098 | -24 | c.-29 others(35): Show |
NXNL1 | ENSG00000171773.3 | transcript | ENST00000301944.3 | protein_coding | 2864 | chr19 | TogoVar | ||||||
NXN_chr17_794310_984776 | 805093 | CTCGTTAA others(17): Show |
C | disruptive_inframe_deletion | MODERATE | NA19060.hp2 | a0004 | a0004c0008 | a0004c0008t0002 | a0004c0008t0002g0150 | 1 | 242 | 0.0041 | -24 | c.951 others(31): Show |
p.Asp others(13): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 6/8 | 1072/3045 | 951/1308 | 317/435 | chr17 | TogoVar | ||
NXN_chr17_794310_984776 | 842958 | AAGAAAGA others(17): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG02071.hp1 HG02723.hp1 others(2): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0026others(2): Show | a0001c0001t0001g0071a0001c0001t0003g0193a0001c0001t0026g0173others(2): Show | 5 | 242 | 0.0207 | -24 | c.361 others(43): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 842998 | GAGAAAGA others(17): Show |
G | intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0030 | 1 | 242 | 0.0041 | -24 | c.361 others(43): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 889739 | GAAAGAAA others(17): Show |
G | intron_variant | MODIFIER | HG01070.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0172 | 1 | 242 | 0.0041 | -24 | c.361 others(43): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 976055 | GTGTGTTT others(17): Show |
G | intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 242 | 0.0041 | -24 | c.360 others(41): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | ||||||
NXN_chr17_794310_984776 | 979797 | CGCCCACG others(17): Show |
C | upstream_gene_variant | MODIFIER | HG01192.hp2 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0021 | a0001c0001t0001g0017a0001c0001t0021g0019 | 2 | 242 | 0.0083 | -24 | c.-14 others(33): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 22 | chr17 | TogoVar | ||||||
NXPE1_chr11_114513934_114564881 | 114540837 | CTTTTTTT others(17): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG02055.hp1 HG02572.hp1 others(8): Show |
a0002a0003 | a0002c0017a0003c0003 | a0002c0017t0001a0003c0003t0003 | a0002c0017t0001g0250a0003c0003t0003g0001a0003c0003t0003g0145others(2): Show | 11 | 360 | 0.0306 | -24 | c.100 others(41): Show |
NXPE1 | ENSG00000095110.9 | transcript | ENST00000534921.3 | protein_coding | 5/8 | chr11 | TogoVar | ||||||
NXPE3_chr3_101774211_101833231 | 101808818 | GATATATA others(17): Show |
G | intron_variant | MODIFIER | NA18970.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0331 | 1 | 380 | 0.0026 | -24 | c.922 others(41): Show |
NXPE3 | ENSG00000144815.18 | transcript | ENST00000273347.10 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
NXPE4_chr11_114565591_114600786 | 114577051 | ATATATAC others(17): Show |
A | intron_variant | MODIFIER | HG02451.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0167 | 1 | 432 | 0.0023 | -24 | c.109 others(43): Show |
NXPE4 | ENSG00000137634.10 | transcript | ENST00000375478.4 | protein_coding | 5/5 | chr11 | TogoVar | ||||||
NXPH1_chr7_8428609_8757961 | 8655396 | GTCTTTCT others(17): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01934.hp2 HG02148.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0015a0001c0001t0001g0061a0001c0001t0001g0095others(3): Show | 6 | 208 | 0.0289 | -24 | c.55- others(41): Show |
NXPH1 | ENSG00000122584.13 | transcript | ENST00000405863.6 | protein_coding | 2/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
NYAP1_chr7_100478927_100499802 | 100479357 | ACAGCCGC others(17): Show |
A | upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0006 | a0001c0006t0004 | a0001c0006t0004g0008 | 1 | 366 | 0.0027 | -24 | c.-47 others(35): Show |
NYAP1 | ENSG00000166924.9 | transcript | ENST00000300179.7 | protein_coding | 4569 | chr7 | TogoVar | ||||||
NYAP2_chr2_225394710_225708654 | 225538778 | TTTTCTTT others(17): Show |
T | intron_variant | MODIFIER | HG03486.hp2 NA19004.hp1 |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0004a0002c0005t0006 | a0001c0001t0004g0043a0002c0005t0006g0074 | 2 | 192 | 0.0104 | -24 | c.523 others(43): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NYAP2_chr2_225394710_225708654 | 225538826 | CTTTCTTT others(17): Show |
C | intron_variant | MODIFIER | HG02976.hp1 HG03453.hp1 HG03471.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0014a0001c0001t0026others(1): Show | a0001c0001t0009g0126a0001c0001t0014g0022a0001c0001t0026g0187others(1): Show | 4 | 192 | 0.0208 | -24 | c.523 others(43): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 4/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
NYAP2_chr2_225394710_225708654 | 225612796 | GGACATCA others(17): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00438.hp1 others(68): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(13): Show | a0001c0001t0001g0024a0001c0001t0001g0026a0001c0001t0001g0027others(68): Show | 71 | 192 | 0.3698 | -24 | c.161 others(45): Show |
NYAP2 | ENSG00000144460.13 | transcript | ENST00000272907.8 | protein_coding | 5/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
OBSCN_chr1_228203044_228383876 | 228331407 | CATATATA others(17): Show |
C | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG02486.hp1 others(4): Show |
a0018a0066a0096others(2): Show | a0018c0019a0066c0164a0096c0079others(2): Show | a0018c0019t0002a0066c0164t0002a0096c0079t0004others(2): Show | a0018c0019t0002g0280a0018c0019t0002g0281a0018c0019t0002g0282others(4): Show | 7 | 320 | 0.0219 | -24 | c.185 others(45): Show |
OBSCN | ENSG00000154358.23 | transcript | ENST00000680850.1 | protein_coding | 67/115 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
OCA2_chr15_27749875_28104315 | 27767669 | CACCAATC others(17): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01071.hp1 HG02602.hp2 others(1): Show |
a0001a0002a0013 | a0001c0001a0001c0004a0002c0016others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0016t0001others(1): Show | a0001c0001t0001g0060a0001c0004t0001g0013a0002c0016t0001g0048others(1): Show | 4 | 110 | 0.0364 | -24 | c.243 others(45): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 23/23 | chr15 | TogoVar | ||||||
OCA2_chr15_27749875_28104315 | 27870675 | GGAAGGAA others(17): Show |
G | intron_variant | MODIFIER | HG02818.hp1 HG03195.hp1 |
a0006a0016 | a0006c0025a0016c0041 | a0006c0025t0001a0016c0041t0001 | a0006c0025t0001g0067a0016c0041t0001g0079 | 2 | 110 | 0.0182 | -24 | c.224 others(41): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 21/23 | chr15 | TogoVar | ||||||
OCA2_chr15_27749875_28104315 | 27913892 | AAAGCAAG others(17): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG03669.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0024a0001c0007t0001g0086 | 2 | 110 | 0.0182 | -24 | c.207 others(45): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 19/23 | chr15 | TogoVar | ||||||
OCA2_chr15_27749875_28104315 | 27913908 | CAAGCAAG others(17): Show |
C | intron_variant | MODIFIER | HG03453.hp1 | a0006 | a0006c0023 | a0006c0023t0001 | a0006c0023t0001g0093 | 1 | 110 | 0.0091 | -24 | c.207 others(45): Show |
OCA2 | ENSG00000104044.16 | transcript | ENST00000354638.8 | protein_coding | 19/23 | chr15 | TogoVar | ||||||
OCIAD2_chr4_48880019_48911774 | 48910479 | GTTGCCCA others(17): Show |
G | upstream_gene_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0009 | 1 | 364 | 0.0028 | -24 | c.-39 others(35): Show |
OCIAD2 | ENSG00000145247.12 | transcript | ENST00000508632.6 | protein_coding | 3706 | chr4 | TogoVar | ||||||
OCLN_chr5_69487790_69563104 | 69515470 | CAGTAGGG others(17): Show |
C | intron_variant | MODIFIER | HG00609.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0054 | 1 | 290 | 0.0035 | -24 | c.891 others(41): Show |
OCLN | ENSG00000197822.12 | transcript | ENST00000396442.7 | protein_coding | 4/8 | chr5 | TogoVar | ||||||
ODAD2_chr10_27807168_28004079 | 27885523 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG01069.hp1 HG01070.hp2 others(4): Show |
a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0217a0003c0004t0001g0218a0003c0004t0001g0219others(4): Show | 7 | 304 | 0.0230 | -24 | c.261 others(45): Show |
ODAD2 | ENSG00000169126.16 | transcript | ENST00000305242.10 | protein_coding | 17/19 | chr10 | TogoVar | ||||||
ODAD2_chr10_27807168_28004079 | 27923945 | TGAAAGAA others(17): Show |
T | intron_variant | MODIFIER | HG02965.hp1 HG03195.hp1 HG03195.hp2 |
a0004a0011a0016 | a0004c0007a0011c0017a0016c0030 | a0004c0007t0002a0011c0017t0001a0016c0030t0001 | a0004c0007t0002g0206a0011c0017t0001g0129a0016c0030t0001g0134 | 3 | 304 | 0.0099 | -24 | c.249 others(45): Show |
ODAD2 | ENSG00000169126.16 | transcript | ENST00000305242.10 | protein_coding | 16/19 | chr10 | TogoVar | ||||||
ODAD2_chr10_27807168_28004079 | 27970991 | TAAATAAA others(17): Show |
T | intron_variant | MODIFIER | HG03486.hp1 | a0005 | a0005c0019 | a0005c0019t0002 | a0005c0019t0002g0190 | 1 | 304 | 0.0033 | -24 | c.114 others(40): Show |
ODAD2 | ENSG00000169126.16 | transcript | ENST00000305242.10 | protein_coding | 8/19 | chr10 | TogoVar | ||||||
ODAD3_chr19_11415605_11440121 | 11420135 | CTTTTTTT others(17): Show |
C | downstream_gene_variant | MODIFIER | NA18939.hp1 NA18954.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127a0001c0001t0001g0146 | 2 | 398 | 0.0050 | -24 | c.*67 others(33): Show |
ODAD3 | ENSG00000198003.12 | transcript | ENST00000356392.9 | protein_coding | 469 | chr19 | TogoVar | ||||||
ODAD4_chr17_41925617_41971503 | 41944424 | ACACACAC others(17): Show |
A | intron_variant | MODIFIER | HG02074.hp1 NA19087.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0177a0001c0001t0001g0187 | 2 | 340 | 0.0059 | -24 | c.105 others(41): Show |
ODAD4 | ENSG00000204815.10 | transcript | ENST00000377540.6 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ODF2_chr9_128451006_128506292 | 128497436 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0303 | 1 | 346 | 0.0029 | -24 | c.226 others(41): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ODF2_chr9_128451006_128506292 | 128497438 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG02559.hp2 NA18975.hp2 NA19081.hp1 |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0003a0003c0004t0001 | a0001c0001t0001g0336a0001c0001t0003g0316a0003c0004t0001g0318 | 3 | 346 | 0.0087 | -24 | c.226 others(41): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ODF2_chr9_128451006_128506292 | 128497440 | AAAAAAAA others(17): Show |
A | intron_variant | MODIFIER | HG01361.hp1 HG02040.hp1 HG03239.hp2 others(11): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0003c0004t0001 | a0001c0001t0001g0320a0001c0001t0001g0321a0001c0001t0001g0323others(11): Show | 14 | 346 | 0.0405 | -24 | c.226 others(41): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ODF2_chr9_128451006_128506292 | 128497442 | AAAAAATA others(17): Show |
A | intron_variant | MODIFIER | HG01099.hp2 HG01975.hp2 HG02027.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0004a0001c0001t0001g0325a0001c0001t0001g0326others(5): Show | 9 | 346 | 0.0260 | -24 | c.226 others(41): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ODF2_chr9_128451006_128506292 | 128497446 | AATATATA others(17): Show |
A | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0142 | 1 | 346 | 0.0029 | -24 | c.226 others(41): Show |
ODF2 | ENSG00000136811.17 | transcript | ENST00000351030.8 | protein_coding | 18/20 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
ODF3L2_chr19_458361_479983 | 465876 | GTGGGTGG others(17): Show |
G | intron_variant | MODIFIER | HG03669.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0100 | 1 | 324 | 0.0031 | -24 | c.350 others(41): Show |
ODF3L2 | ENSG00000181781.10 | transcript | ENST00000315489.5 | protein_coding | 3/3 | chr19 | TogoVar | ||||||
OGFR_chr20_62799835_62819000 | 62805392 | CCTGGGGC others(17): Show |
C | intron_variant | MODIFIER | HG00597.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0115 | 1 | 422 | 0.0024 | -24 | c.171 others(39): Show |
OGFR | ENSG00000060491.17 | transcript | ENST00000290291.10 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
OGFR_chr20_62799835_62819000 | 62817061 | AGCCATGG others(17): Show |
A | downstream_gene_variant | MODIFIER | HG02004.hp2 | a0003 | a0003c0002 | a0003c0002t0001 | a0003c0002t0001g0050 | 1 | 422 | 0.0024 | -24 | c.*34 others(35): Show |
OGFR | ENSG00000060491.17 | transcript | ENST00000290291.10 | protein_coding | 3062 | chr20 | TogoVar | ||||||
OGT_chrX_71528104_71580892 | 71530605 | CTGCTGAT others(17): Show |
C | upstream_gene_variant | MODIFIER | HG01255.hp1 HG02145.hp1 HG02886.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0019a0001c0001t0003g0020a0001c0001t0003g0021others(2): Show | 5 | 257 | 0.0195 | -24 | c.-26 others(35): Show |
OGT | ENSG00000147162.15 | transcript | ENST00000373719.8 | protein_coding | 2498 | chrX | TogoVar |