| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| ABCB11_chr2_168915781_169036324 | 168975298 | T | TAGATAAA others(787): Show |
intron_variant | MODIFIER | NA18942.hp2 NA18959.hp2 NA18991.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0015 | a0001c0002t0002g0141 a0001c0002t0015g0004 a0001c0002t0015g0204 |
4 | 204 | 0.0196 | 794 | c.130 others(813): Show |
ABCB11 | ENSG00000073734.10 | transcript | ENST00000650372.1 | protein_coding | 12/27 | chr2 | TogoVar | |||||||
| ADARB1_chr21_45069580_45231560 | 45156214 | T | TCCACCCA others(787): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0002 | a0001c0002t0076 | a0001c0002t0076g0221 | 1 | 348 | 0.0029 | 794 | c.-47 others(813): Show |
ADARB1 | ENSG00000197381.18 | transcript | ENST00000348831.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
| AMER2_chr13_25156679_25177288 | 25159099 | T | TATATATA others(787): Show |
downstream_gene_variant | MODIFIER | HG01175.hp2 HG01884.hp2 HG02965.hp2 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0020a0001c0001t0050others(1): Show | a0001c0001t0002g0000 a0001c0001t0020g0000 a0001c0001t0050g0000 others(1): Show |
12 | 21 | 0.5714 | 794 | c.*10 others(807): Show |
AMER2 | ENSG00000165566.13 | transcript | ENST00000515384.2 | protein_coding | 2579 | chr13 | TogoVar | |||||||
| C4orf50_chr4_5954375_6023431 | 6004599 | A | ATGATGGT others(787): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00597.hp1 HG03710.hp2 others(1): Show |
a0001a0004 | a0001c0001a0001c0084a0004c0003 | a0001c0001t0001a0001c0084t0001a0004c0003t0001 | a0001c0001t0001g0097 a0001c0001t0001g0204 a0001c0084t0001g0096 others(1): Show |
4 | 199 | 0.0201 | 794 | c.963 others(811): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
| CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(787): Show |
intron_variant | MODIFIER | NA19010.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329 | 1 | 194 | 0.0052 | 794 | c.300 others(811): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| CFAP20DC_chr3_58737008_59055025 | 58786706 | T | TAAGATAT others(787): Show |
intron_variant | MODIFIER | NA18941.hp2 NA18945.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0036 a0001c0002t0002g0144 |
2 | 151 | 0.0132 | 794 | c.223 others(815): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 15/16 | chr3 | TogoVar | |||||||
| CFAP61_chr20_20047532_20365698 | 20337583 | T | TGGGTGGG others(787): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03225.hp2 |
a0001a0006 | a0001c0001a0006c0011 | a0001c0001t0003a0006c0011t0003 | a0001c0001t0003g0124 a0006c0011t0003g0096 |
2 | 5 | 0.4000 | 794 | c.342 others(813): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 25/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| CHRNA3_chr15_78590309_78625996 | 78599758 | T | TAATCCTA others(787): Show |
intron_variant | MODIFIER | NA19076.hp1 | a0003 | a0003c0007 | a0003c0007t0004 | a0003c0007t0004g0061 | 1 | 408 | 0.0025 | 794 | c.138 others(813): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
| CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(787): Show |
intron_variant | MODIFIER | NA18965.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0169 | 1 | 2 | 0.5000 | 794 | c.138 others(813): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
| CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(787): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0005 | a0001c0005t0005 | a0001c0005t0005g0124 | 1 | 2 | 0.5000 | 794 | c.138 others(813): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
| CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(787): Show |
intron_variant | MODIFIER | HG00099.hp2 HG02451.hp2 HG02615.hp2 others(4): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0001a0001c0003t0003a0001c0004t0006 | a0001c0001t0001g0201 a0001c0003t0003g0260 a0001c0004t0006g0051 others(2): Show |
7 | 8 | 0.8750 | 794 | c.138 others(813): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
| CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(787): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00738.hp2 others(30): Show |
a0001a0003 | a0001c0005a0001c0008a0001c0016others(1): Show | a0001c0005t0004a0001c0005t0005a0001c0008t0004others(3): Show | a0001c0005t0004g0002 a0001c0005t0004g0118 a0001c0005t0004g0119 others(16): Show |
33 | 34 | 0.9706 | 794 | c.138 others(813): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
| CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(787): Show |
intron_variant | MODIFIER | HG01891.hp1 HG02886.hp2 HG02895.hp1 others(8): Show |
a0001 | a0001c0006a0001c0015 | a0001c0006t0007a0001c0006t0014a0001c0015t0017 | a0001c0006t0007g0007 a0001c0006t0007g0054 a0001c0006t0007g0055 others(5): Show |
11 | 12 | 0.9167 | 794 | c.138 others(813): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
| CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(787): Show |
intron_variant | MODIFIER | HG01192.hp1 NA18956.hp1 NA19090.hp2 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0029 a0002c0002t0002g0072 |
3 | 4 | 0.7500 | 794 | c.138 others(813): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
| CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(787): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0085 | 1 | 2 | 0.5000 | 794 | c.138 others(813): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
| CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(787): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0111 | 1 | 2 | 0.5000 | 794 | c.138 others(813): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
| CHRNA3_chr15_78590309_78625996 | 78599765 | T | TAGCACTT others(787): Show |
intron_variant | MODIFIER | NA18997.hp1 | a0001 | a0001c0003 | a0001c0003t0023 | a0001c0003t0023g0243 | 1 | 2 | 0.5000 | 794 | c.138 others(813): Show |
CHRNA3 | ENSG00000080644.16 | transcript | ENST00000326828.6 | protein_coding | 5/5 | chr15 | TogoVar | |||||||
| CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(787): Show |
downstream_gene_variant | MODIFIER | NA18965.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 | 1 | 93 | 0.0108 | 794 | c.*65 others(805): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
| CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(787): Show |
downstream_gene_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0087 | 1 | 93 | 0.0108 | 794 | c.*65 others(805): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
| CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(787): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG03453.hp2 NA18522.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0005a0002c0002t0003 | a0001c0001t0001g0235 a0001c0001t0005g0001 a0001c0001t0005g0034 others(1): Show |
5 | 97 | 0.0515 | 794 | c.*65 others(805): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
| CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(787): Show |
downstream_gene_variant | MODIFIER | HG00140.hp1 HG00609.hp2 HG00738.hp2 others(28): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0003a0004c0005others(1): Show | a0001c0001t0016a0001c0001t0031a0003c0003t0004others(3): Show | a0001c0001t0016g0086 a0001c0001t0031g0209 a0003c0003t0004g0002 others(22): Show |
31 | 123 | 0.2520 | 794 | c.*65 others(805): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
| CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(787): Show |
downstream_gene_variant | MODIFIER | HG01891.hp1 HG02886.hp2 HG02965.hp2 others(7): Show |
a0001a0007 | a0001c0001a0007c0009 | a0001c0001t0008a0001c0001t0009a0001c0001t0014others(2): Show | a0001c0001t0008g0302 a0001c0001t0009g0296 a0001c0001t0009g0298 others(7): Show |
10 | 102 | 0.0980 | 794 | c.*65 others(805): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
| CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(787): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 NA19090.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0004 a0001c0001t0002g0009 |
2 | 94 | 0.0213 | 794 | c.*65 others(805): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
| CHRNA5_chr15_78560520_78600269 | 78599765 | T | TAGCACTT others(787): Show |
downstream_gene_variant | MODIFIER | NA18949.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0184 | 1 | 93 | 0.0108 | 794 | c.*65 others(805): Show |
CHRNA5 | ENSG00000169684.13 | transcript | ENST00000299565.9 | protein_coding | 4497 | chr15 | TogoVar | |||||||
| CNST_chr1_246561456_246673595 | 246642837 | G | GGTGGTGG others(787): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 74 | 0.0135 | 794 | c.937 others(809): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| COMMD9_chr11_36267292_36294424 | 36287093 | A | ACTATGTA others(787): Show |
intron_variant | MODIFIER | HG02015.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 353 | 0.0028 | 794 | c.51+ others(809): Show |
COMMD9 | ENSG00000110442.12 | transcript | ENST00000263401.10 | protein_coding | 1/5 | chr11 | TogoVar | |||||||
| COX6A1_chr12_120433113_120445730 | 120437284 | T | TTCAGGAG others(787): Show |
upstream_gene_variant | MODIFIER | HG02004.hp1 HG02055.hp1 HG02129.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(1): Show |
11 | 195 | 0.0564 | 794 | c.-84 others(803): Show |
COX6A1 | ENSG00000111775.3 | transcript | ENST00000229379.3 | protein_coding | 828 | chr12 | TogoVar | |||||||
| COX6A1_chr12_120433113_120445730 | 120437284 | T | TTCAGGAG others(787): Show |
upstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0025 | 1 | 185 | 0.0054 | 794 | c.-84 others(803): Show |
COX6A1 | ENSG00000111775.3 | transcript | ENST00000229379.3 | protein_coding | 828 | chr12 | TogoVar | |||||||
| COX6A1_chr12_120433113_120445730 | 120437284 | T | TTCAGGAG others(787): Show |
upstream_gene_variant | MODIFIER | HG00323.hp1 HG01099.hp1 HG01884.hp2 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(7): Show |
17 | 201 | 0.0846 | 794 | c.-84 others(803): Show |
COX6A1 | ENSG00000111775.3 | transcript | ENST00000229379.3 | protein_coding | 828 | chr12 | TogoVar | |||||||
| COX6A1_chr12_120433113_120445730 | 120437284 | T | TTCAGGAG others(787): Show |
upstream_gene_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 185 | 0.0054 | 794 | c.-84 others(803): Show |
COX6A1 | ENSG00000111775.3 | transcript | ENST00000229379.3 | protein_coding | 828 | chr12 | TogoVar | |||||||
| EHMT1_chr9_137614005_137841127 | 137716227 | A | ATGGTGGG others(787): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 164 | 0.0061 | 794 | c.86- others(807): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| FAM81A_chr15_59433186_59528555 | 59433245 | C | CAGGCGTT others(787): Show |
upstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152 | 1 | 270 | 0.0037 | 794 | c.-51 others(805): Show |
FAM81A | ENSG00000157470.12 | transcript | ENST00000288228.10 | protein_coding | 4940 | chr15 | TogoVar | |||||||
| FBRSL1_chr12_132485151_132590188 | 132556667 | G | GTCCTGTG others(787): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02809.hp2 HG02895.hp1 others(4): Show |
a0009 | a0009c0008 | a0009c0008t0001a0009c0008t0004 | a0009c0008t0001g0148 a0009c0008t0001g0233 a0009c0008t0001g0248 others(4): Show |
7 | 340 | 0.0206 | 794 | c.645 others(811): Show |
FBRSL1 | ENSG00000112787.14 | transcript | ENST00000680143.1 | protein_coding | 5/18 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| FBXO47_chr17_38931432_38972403 | 38946735 | T | TATATATG others(787): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 12 | 0.0833 | 794 | c.617 others(811): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 6/10 | chr17 | TogoVar | |||||||
| GALNS_chr16_88808734_88861947 | 88831675 | A | AGGAGAGC others(787): Show |
intron_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0011 | 1 | 376 | 0.0027 | 794 | c.100 others(811): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 9/13 | chr16 | TogoVar | |||||||
| GET4_chr7_871554_901436 | 890279 | T | TGAGCGGG others(787): Show |
intron_variant | MODIFIER | NA18994.hp1 NA19088.hp2 |
a0001 | a0001c0002 | a0001c0002t0007 | a0001c0002t0007g0137 a0001c0002t0007g0143 |
2 | 264 | 0.0076 | 794 | c.467 others(809): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| GET4_chr7_871554_901436 | 890279 | T | TGAGCGGG others(787): Show |
intron_variant | MODIFIER | HG00544.hp1 NA18962.hp2 NA18999.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0002 | a0001c0002t0001g0125 a0001c0002t0002g0033 a0001c0002t0002g0133 |
3 | 265 | 0.0113 | 794 | c.467 others(809): Show |
GET4 | ENSG00000239857.7 | transcript | ENST00000265857.8 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| GLIS1_chr1_53501239_53744164 | 53525463 | A | AGGCTGGG others(787): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0002 | a0002c0006 | a0002c0006t0002 | a0002c0006t0002g0079 | 1 | 129 | 0.0078 | 794 | c.148 others(811): Show |
GLIS1 | ENSG00000174332.6 | transcript | ENST00000628545.2 | protein_coding | 5/10 | chr1 | TogoVar | |||||||
| IFNAR1_chr21_33319970_33364864 | 33322429 | T | TATATATA others(787): Show |
upstream_gene_variant | MODIFIER | NA21309.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0246 | 1 | 295 | 0.0034 | 794 | c.-26 others(805): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 2540 | chr21 | TogoVar | |||||||
| INO80_chr15_40973880_41121280 | 41031545 | A | AGGAAGGG others(787): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0160 | 1 | 154 | 0.0065 | 794 | c.290 others(813): Show |
INO80 | ENSG00000128908.19 | transcript | ENST00000648947.1 | protein_coding | 24/35 | chr15 | TogoVar | |||||||
| KIF25_chr6_167992671_168050091 | 167997233 | G | GGGGGCGG others(787): Show |
upstream_gene_variant | MODIFIER | NA18973.hp1 | a0003 | a0003c0004 | a0003c0004t0001 | a0003c0004t0001g0222 | 1 | 364 | 0.0027 | 794 | c.-22 others(805): Show |
KIF25 | ENSG00000125337.21 | transcript | ENST00000643607.3 | protein_coding | 437 | chr6 | TogoVar | |||||||
| KMT2E_chr7_105009205_105120019 | 105096600 | A | AAAAAACT others(787): Show |
intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 302 | 0.0033 | 794 | c.172 others(813): Show |
KMT2E | ENSG00000005483.23 | transcript | ENST00000311117.8 | protein_coding | 15/26 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
| LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATA others(787): Show |
intron_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0271 | 1 | 207 | 0.0048 | 794 | c.126 others(811): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
| LARS1_chr5_146108034_146187650 | 146174593 | T | TATATATC others(787): Show |
intron_variant | MODIFIER | NA19081.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0211 | 1 | 207 | 0.0048 | 794 | c.126 others(811): Show |
LARS1 | ENSG00000133706.20 | transcript | ENST00000394434.7 | protein_coding | 2/31 | chr5 | TogoVar | |||||||
| LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(787): Show |
upstream_gene_variant | MODIFIER | HG00423.hp2 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0006 a0001c0001t0007g0006 |
2 | 171 | 0.0117 | 794 | c.-30 others(805): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | |||||||
| MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(787): Show |
intron_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0007 | a0001c0007t0002 | a0001c0007t0002g0127 | 1 | 8 | 0.1250 | 794 | c.115 others(811): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(787): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0002 | a0002c0017 | a0002c0017t0002 | a0002c0017t0002g0144 | 1 | 8 | 0.1250 | 794 | c.115 others(811): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| MGAT5B_chr17_76863404_76955393 | 76925235 | G | GCCCTCCC others(787): Show |
intron_variant | MODIFIER | HG00408.hp1 HG01496.hp1 HG01978.hp2 others(5): Show |
a0001a0002 | a0001c0011a0001c0051a0001c0052others(1): Show | a0001c0011t0002a0001c0051t0001a0001c0052t0003others(1): Show | a0001c0011t0002g0184 a0001c0011t0002g0202 a0001c0011t0002g0276 others(5): Show |
8 | 15 | 0.5333 | 794 | c.115 others(811): Show |
MGAT5B | ENSG00000167889.13 | transcript | ENST00000569840.7 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| MYT1_chr20_64159452_64247253 | 64176074 | C | CCTGCAGC others(787): Show |
intron_variant | MODIFIER | HG02723.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0218 | 1 | 101 | 0.0099 | 794 | c.-99 others(813): Show |
MYT1 | ENSG00000196132.14 | transcript | ENST00000328439.6 | protein_coding | 1/22 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
| NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(787): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0169 | 1 | 4 | 0.2500 | 794 | c.279 others(809): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar |