view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CDH4_chr20_61247261_61945617 | 61945183 | TCGCGGCT others(143): Show |
T | downstream_gene_variant | MODIFIER | HG02148.hp2 HG02559.hp1 HG03209.hp2 others(1): Show |
a0001 | a0001c0001a0001c0010a0001c0023 | a0001c0001t0009a0001c0010t0009a0001c0023t0044 | a0001c0001t0009g0013a0001c0001t0009g0019a0001c0010t0009g0045others(1): Show | 4 | 106 | 0.0377 | -150 | c.*82 others(11): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4567 | chr20 | TogoVar | |||||||
CDH4_chr20_61247261_61945617 | 61945455 | CGCCCTTT others(143): Show |
C | downstream_gene_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0003 | a0001c0003t0036 | a0001c0003t0036g0043 | 1 | 106 | 0.0094 | -150 | c.*85 others(11): Show |
CDH4 | ENSG00000179242.16 | transcript | ENST00000614565.5 | protein_coding | 4839 | chr20 | TogoVar | |||||||
CLCN7_chr16_1439935_1480028 | 1457328 | TCGGCCCT others(143): Show |
T | splice_acceptor_variant others(3): Show |
HIGH | HG02622.hp1 HG02622.hp2 |
a0003 | a0003c0016a0003c0021 | a0003c0016t0050a0003c0021t0013 | a0003c0016t0050g0154a0003c0021t0013g0189 | 2 | 404 | 0.0050 | -150 | c.739 others(11): Show |
p.Glu others(13): Show |
CLCN7 | ENSG00000103249.19 | transcript | ENST00000382745.9 | protein_coding | 9/25 | 801/4168 | 739/2418 | 247/805 | chr16 | TogoVar | |||
CNTRL_chr9_121069955_121182610 | 121092592 | ATATATAT others(143): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00597.hp2 others(80): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(5): Show | a0001c0001t0001g0229a0001c0001t0001g0230a0001c0001t0001g0231others(75): Show | 83 | 330 | 0.2515 | -150 | c.348 others(17): Show |
CNTRL | ENSG00000119397.19 | transcript | ENST00000373855.7 | protein_coding | 4/43 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COG3_chr13_45459939_45541701 | 45513224 | TATAATAT others(143): Show |
T | intron_variant | MODIFIER | HG01934.hp2 HG02976.hp2 NA19043.hp2 |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0217a0002c0003t0002g0219a0002c0003t0002g0240 | 3 | 342 | 0.0088 | -150 | c.180 others(19): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A1_chr13_110143963_110312157 | 110253339 | CATATACA others(143): Show |
C | intron_variant | MODIFIER | HG01123.hp1 | a0003 | a0003c0049 | a0003c0049t0001 | a0003c0049t0001g0262 | 1 | 344 | 0.0029 | -150 | c.85- others(17): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL6A2_chr21_46093112_46134801 | 46134479 | CAGGTTTA others(143): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp2 HG03579.hp1 |
a0001a0002 | a0001c0006a0002c0003 | a0001c0006t0006a0002c0003t0006 | a0001c0006t0006g0268a0002c0003t0006g0065 | 2 | 372 | 0.0054 | -150 | c.*49 others(11): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000397763.6 | protein_coding | 4679 | chr21 | TogoVar | |||||||
COL6A2_chr21_46093112_46137848 | 46134479 | CAGGTTTA others(143): Show |
C | downstream_gene_variant | MODIFIER | HG02257.hp2 HG03579.hp1 |
a0001a0002 | a0001c0007a0002c0013 | a0001c0007t0003a0002c0013t0003 | a0001c0007t0003g0265a0002c0013t0003g0067 | 2 | 364 | 0.0055 | -150 | c.*19 others(11): Show |
COL6A2 | ENSG00000142173.17 | transcript | ENST00000300527.9 | protein_coding | 1632 | chr21 | TogoVar | |||||||
CPSF6_chr12_69234569_69279358 | 69236174 | ATAGCATA others(143): Show |
A | upstream_gene_variant | MODIFIER | HG02055.hp2 NA18974.hp1 NA19074.hp2 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0069a0001c0002t0075 | a0001c0002t0001g0134a0001c0002t0001g0140a0001c0002t0069g0122others(1): Show | 4 | 392 | 0.0102 | -150 | c.-34 others(11): Show |
CPSF6 | ENSG00000111605.18 | transcript | ENST00000435070.7 | protein_coding | 3394 | chr12 | TogoVar | |||||||
CPSF6_chr12_69234569_69279358 | 69236234 | ATAGCATA others(143): Show |
A | upstream_gene_variant | MODIFIER | NA18947.hp1 NA18954.hp2 NA19012.hp1 others(1): Show |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0025 | a0001c0002t0001g0034a0001c0002t0001g0126a0001c0002t0001g0148others(1): Show | 4 | 392 | 0.0102 | -150 | c.-34 others(11): Show |
CPSF6 | ENSG00000111605.18 | transcript | ENST00000435070.7 | protein_coding | 3334 | chr12 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240907691 | GTGGGGTG others(143): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp2 others(81): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0020a0001c0022others(21): Show | a0001c0001t0002a0001c0001t0004a0001c0020t0002others(22): Show | a0001c0001t0002g0236a0001c0001t0002g0273a0001c0001t0002g0277others(81): Show | 84 | 350 | 0.2400 | -150 | c.78+ others(15): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240908725 | CCTCTACC others(143): Show |
C | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0024 | a0001c0024t0002 | a0001c0024t0002g0238 | 1 | 350 | 0.0029 | -150 | c.78+ others(15): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240908825 | GCTCTACC others(143): Show |
G | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0267 | 1 | 350 | 0.0029 | -150 | c.78+ others(15): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240908925 | GCTCTACC others(143): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG01070.hp1 HG01071.hp1 others(56): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0020a0001c0060others(18): Show | a0001c0001t0001a0001c0001t0003a0001c0020t0001others(21): Show | a0001c0001t0001g0126a0001c0001t0001g0127a0001c0001t0001g0128others(54): Show | 59 | 350 | 0.1686 | -150 | c.78+ others(15): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CROCC2_chr2_240901336_240998311 | 240909000 | CCTCTACC others(143): Show |
C | intron_variant | MODIFIER | HG02056.hp2 | a0006 | a0006c0007 | a0006c0007t0001 | a0006c0007t0001g0193 | 1 | 350 | 0.0029 | -150 | c.78+ others(15): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 1/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CRYZ_chr1_74700486_74738050 | 74732048 | CTGGGCTG others(143): Show |
C | intron_variant | MODIFIER | HG04115.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0266 | 1 | 372 | 0.0027 | -150 | c.-14 others(15): Show |
CRYZ | ENSG00000116791.14 | transcript | ENST00000340866.10 | protein_coding | 1/8 | chr1 | TogoVar | |||||||
CTDP1_chr18_79674803_79759503 | 79739776 | AGGACGGG others(143): Show |
A | intron_variant | MODIFIER | HG03130.hp1 HG03209.hp1 NA18986.hp1 |
a0001 | a0001c0003a0001c0008 | a0001c0003t0002a0001c0003t0014a0001c0008t0001 | a0001c0003t0002g0100a0001c0003t0014g0059a0001c0008t0001g0205 | 3 | 378 | 0.0079 | -150 | c.274 others(19): Show |
CTDP1 | ENSG00000060069.18 | transcript | ENST00000613122.5 | protein_coding | 12/12 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
CUL1_chr7_148693903_148806110 | 148747875 | GATCATTG others(143): Show |
G | intron_variant | MODIFIER | NA19075.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0028 | 1 | 338 | 0.0030 | -150 | c.141 others(17): Show |
CUL1 | ENSG00000055130.18 | transcript | ENST00000325222.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CYP4F12_chr19_15668087_15702174 | 15677431 | TTCATTCC others(143): Show |
T | intron_variant | MODIFIER | NA19006.hp2 | a0001 | a0001c0016 | a0001c0016t0001 | a0001c0016t0001g0056 | 1 | 410 | 0.0024 | -150 | c.199 others(15): Show |
CYP4F12 | ENSG00000186204.15 | transcript | ENST00000550308.6 | protein_coding | 2/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241765955 | GTTGGGGA others(143): Show |
G | intron_variant | MODIFIER | HG03098.hp2 | a0001 | a0001c0001 | a0001c0001t0042 | a0001c0001t0042g0185 | 1 | 412 | 0.0024 | -150 | c.130 others(19): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
D2HGDH_chr2_241729630_241773811 | 241766055 | CTTGGGGA others(143): Show |
C | intron_variant | MODIFIER | HG02630.hp2 | a0003 | a0003c0003 | a0003c0003t0005 | a0003c0003t0005g0356 | 1 | 412 | 0.0024 | -150 | c.130 others(19): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DEF8_chr16_89943755_89973060 | 89948824 | GCGGGGCC others(143): Show |
G | intron_variant | MODIFIER | HG00733.hp2 HG01069.hp2 HG01071.hp1 others(6): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0007 | a0001c0001t0003a0001c0001t0015a0001c0001t0027others(3): Show | a0001c0001t0003g0056a0001c0001t0003g0057a0001c0001t0003g0058others(5): Show | 9 | 392 | 0.0230 | -150 | c.-10 others(16): Show |
DEF8 | ENSG00000140995.17 | transcript | ENST00000563594.6 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
DGKB_chr7_14140049_14907751 | 14211992 | ATGTTTTG others(143): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0127 | 1 | 148 | 0.0068 | -150 | c.212 others(21): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DGKB_chr7_14140049_14907751 | 14212280 | TTTTACTC others(143): Show |
T | intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0147 | 1 | 148 | 0.0068 | -150 | c.212 others(21): Show |
DGKB | ENSG00000136267.14 | transcript | ENST00000402815.6 | protein_coding | 23/25 | chr7 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 429409 | CCCGGACC others(143): Show |
C | intron_variant | MODIFIER | HG03130.hp2 HG03579.hp2 |
a0001 | a0001c0002a0001c0010 | a0001c0002t0003a0001c0010t0002 | a0001c0002t0003g0082a0001c0010t0002g0001 | 2 | 88 | 0.0227 | -150 | c.395 others(17): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 4/36 | chr10 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 447136 | GTCACACA others(143): Show |
G | intron_variant | MODIFIER | HG00609.hp1 NA19066.hp2 |
a0001 | a0001c0002a0001c0011 | a0001c0002t0003a0001c0011t0003 | a0001c0002t0003g0043a0001c0011t0003g0088 | 2 | 88 | 0.0227 | -150 | c.269 others(17): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 3/36 | chr10 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1302318 | CGAGCTCT others(143): Show |
C | intron_variant | MODIFIER | HG02895.hp1 HG02976.hp1 HG03516.hp2 |
a0001a0002 | a0001c0003a0002c0001 | a0001c0003t0001a0002c0001t0002 | a0001c0003t0001g0026a0001c0003t0001g0027a0002c0001t0002g0032 | 3 | 40 | 0.0750 | -150 | c.106 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1302407 | CTGTGAGT others(143): Show |
C | intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0002 | a0001c0002t0027 | a0001c0002t0027g0023 | 1 | 40 | 0.0250 | -150 | c.106 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 1350258 | GCATGTGT others(143): Show |
G | intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0009 | 1 | 40 | 0.0250 | -150 | c.106 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | chr8 | TogoVar | |||||||
DLGAP2_chr8_732628_1713476 | 1351052 | GCCGTGCA others(143): Show |
G | intron_variant | MODIFIER | HG01496.hp1 | a0002 | a0002c0004 | a0002c0004t0003 | a0002c0004t0003g0009 | 1 | 40 | 0.0250 | -150 | c.106 others(19): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
DPH7_chr9_137549444_137583925 | 137565537 | GTGACTCT others(143): Show |
G | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0297 | 1 | 340 | 0.0029 | -150 | c.641 others(15): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137565654 | TGGGTGAC others(143): Show |
T | intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0186 | 1 | 340 | 0.0029 | -150 | c.641 others(15): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137566476 | GGGGTGAC others(143): Show |
G | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204 | 1 | 340 | 0.0029 | -150 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137566988 | ACTCTGTC others(143): Show |
A | intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 340 | 0.0029 | -150 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPH7_chr9_137549444_137583925 | 137567808 | TGGGTGAC others(143): Show |
T | intron_variant | MODIFIER | HG02922.hp1 HG02976.hp2 HG03041.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051a0001c0001t0001g0057a0001c0001t0001g0081others(4): Show | 7 | 340 | 0.0206 | -150 | c.641 others(17): Show |
DPH7 | ENSG00000148399.13 | transcript | ENST00000277540.7 | protein_coding | 5/8 | chr9 | TogoVar | |||||||
DPP9_chr19_4670227_4728842 | 4672068 | CATATATT others(143): Show |
C | downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0002 | a0001c0002t0019 | a0001c0002t0019g0024 | 1 | 314 | 0.0032 | -150 | c.*43 others(11): Show |
DPP9 | ENSG00000142002.19 | transcript | ENST00000262960.14 | protein_coding | 3158 | chr19 | TogoVar | |||||||
ECHS1_chr10_133357485_133378354 | 133369344 | CATCCGCA others(143): Show |
C | intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0046 | 1 | 354 | 0.0028 | -150 | c.414 others(15): Show |
ECHS1 | ENSG00000127884.5 | transcript | ENST00000368547.4 | protein_coding | 3/7 | chr10 | TogoVar | |||||||
EGFR_chr7_55014017_55216628 | 55167217 | CGGTGGTG others(143): Show |
C | intron_variant | MODIFIER | HG02615.hp2 HG02896.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0008 | 2 | 250 | 0.0080 | -150 | c.188 others(19): Show |
EGFR | ENSG00000146648.21 | transcript | ENST00000275493.7 | protein_coding | 15/27 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99927900 | GTGGTGGT others(143): Show |
G | intron_variant | MODIFIER | NA20129.hp1 | a0001 | a0001c0005 | a0001c0005t0004 | a0001c0005t0004g0284 | 1 | 288 | 0.0035 | -150 | c.190 others(19): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
EML1_chr14_99788413_99947060 | 99927933 | GTGGTGAT others(143): Show |
G | intron_variant | MODIFIER | NA18970.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0151 | 1 | 288 | 0.0035 | -150 | c.190 others(19): Show |
EML1 | ENSG00000066629.19 | transcript | ENST00000262233.11 | protein_coding | 17/21 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ENOSF1_chr18_665318_717630 | 666891 | AGATGGTG others(143): Show |
A | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00544.hp1 HG01346.hp1 others(19): Show |
a0001a0003a0006 | a0001c0001a0001c0006a0003c0007others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0018others(4): Show | a0001c0001t0001g0307a0001c0001t0001g0328a0001c0001t0001g0331others(19): Show | 22 | 418 | 0.0526 | -150 | c.*72 others(11): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3426 | chr18 | TogoVar | |||||||
ENOSF1_chr18_665318_717630 | 667226 | GTGATGGA others(143): Show |
G | downstream_gene_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0155 | 1 | 418 | 0.0024 | -150 | c.*69 others(11): Show |
ENOSF1 | ENSG00000132199.20 | transcript | ENST00000647584.2 | protein_coding | 3091 | chr18 | TogoVar | |||||||
ENOX1_chr13_43208130_43791972 | 43470248 | ACATATAT others(143): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01243.hp1 HG01258.hp2 others(41): Show |
a0001 | a0001c0001a0001c0002a0001c0010 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(12): Show | a0001c0001t0002g0036a0001c0001t0002g0050a0001c0001t0002g0058others(41): Show | 44 | 188 | 0.2340 | -150 | c.-75 others(19): Show |
ENOX1 | ENSG00000120658.14 | transcript | ENST00000690772.1 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
ERBB4_chr2_211370717_212543802 | 211860971 | TATTTAAA others(143): Show |
T | intron_variant | MODIFIER | NA19030.hp2 NA19043.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0005 | a0001c0001t0003g0049a0001c0001t0005g0044 | 2 | 56 | 0.0357 | -150 | c.422 others(19): Show |
ERBB4 | ENSG00000178568.16 | transcript | ENST00000342788.9 | protein_coding | 3/27 | chr2 | TogoVar | |||||||
ERFL_chr19_41902704_41933449 | 41914688 | TGTCTCTC others(143): Show |
T | intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG00544.hp2 others(53): Show |
a0000a0001a0003 | a0000c0005a0001c0001a0001c0002others(1): Show | a0000c0005t0002a0001c0001t0001a0001c0002t0002others(3): Show | a0000c0005t0002g0099a0000c0005t0002g0119a0001c0001t0001g0142others(35): Show | 56 | 330 | 0.1697 | -150 | c.-13 others(17): Show |
ERFL | ENSG00000268041.3 | transcript | ENST00000597630.3 | protein_coding | 1/5 | chr19 | TogoVar | |||||||
ERICH1_chr8_659200_736224 | 696577 | ACTCGCTC others(143): Show |
A | intron_variant | MODIFIER | HG00673.hp1 NA19084.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0152a0001c0001t0001g0153 | 2 | 378 | 0.0053 | -150 | c.170 others(17): Show |
ERICH1 | ENSG00000104714.14 | transcript | ENST00000262109.8 | protein_coding | 2/5 | chr8 | TogoVar | |||||||
ERO1B_chr1_236210101_236286958 | 236245320 | ATACACAC others(143): Show |
A | intron_variant | MODIFIER | HG01106.hp2 HG02027.hp2 HG02080.hp2 others(10): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0020a0001c0001t0001g0100a0001c0001t0001g0110others(10): Show | 13 | 396 | 0.0328 | -150 | c.432 others(17): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 5/15 | chr1 | TogoVar | |||||||
ERO1B_chr1_236210101_236286958 | 236245394 | ATACGTAT others(143): Show |
A | intron_variant | MODIFIER | HG00140.hp2 HG00408.hp1 HG00544.hp1 others(44): Show |
a0001a0003a0004others(1): Show | a0001c0001a0003c0004a0004c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(11): Show | a0001c0001t0001g0001a0001c0001t0001g0029a0001c0001t0001g0032others(43): Show | 47 | 396 | 0.1187 | -150 | c.432 others(17): Show |
ERO1B | ENSG00000086619.15 | transcript | ENST00000354619.10 | protein_coding | 5/15 | chr1 | TogoVar | |||||||
EXOC2_chr6_480154_698139 | 520709 | GAGACGAA others(143): Show |
G | intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0084 | 1 | 272 | 0.0037 | -150 | c.238 others(21): Show |
EXOC2 | ENSG00000112685.14 | transcript | ENST00000230449.9 | protein_coding | 23/27 | chr6 | TogoVar | |||||||
EXOC6B_chr2_72170984_72831033 | 72401496 | TATATATA others(143): Show |
T | intron_variant | MODIFIER | HG01243.hp2 HG01256.hp2 HG01515.hp2 others(13): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0011others(6): Show | a0001c0001t0002g0027a0001c0001t0002g0034a0001c0001t0002g0050others(13): Show | 16 | 104 | 0.1539 | -150 | c.198 others(21): Show |
EXOC6B | ENSG00000144036.16 | transcript | ENST00000272427.11 | protein_coding | 18/21 | chr2 | TogoVar |