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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
VPS13D_chr1_12225030_12517047 | 12415597 | T | TGAACTTG others(2292): Show |
intron_variant | MODIFIER | HG01346.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0048 | 1 | 142 | 0.0070 | 2299 | c.121 others(2318): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 64/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CEP72_chr5_607340_658553 | 650720 | G | GACTGTGA others(2293): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 89 | 0.0112 | 2300 | c.177 others(2319): Show |
CEP72 | ENSG00000112877.8 | transcript | ENST00000264935.6 | protein_coding | 11/11 | chr5 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2293): Show |
downstream_gene_variant | MODIFIER | HG00673.hp2 HG01243.hp2 HG01257.hp2 others(7): Show |
a0001 | a0001c0001a0001c0013 | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(3): Show | a0001c0001t0001g0001 a0001c0001t0003g0067 a0001c0001t0003g0106 others(7): Show |
10 | 97 | 0.1031 | 2300 | c.*92 others(2311): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2293): Show |
downstream_gene_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0311 | 1 | 88 | 0.0114 | 2300 | c.*92 others(2311): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2293): Show |
downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0021 | a0001c0001t0021g0127 | 1 | 88 | 0.0114 | 2300 | c.*92 others(2311): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2293): Show |
downstream_gene_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0103 | a0001c0001t0103g0315 | 1 | 88 | 0.0114 | 2300 | c.*92 others(2311): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3315984 | G | GCCCCTAC others(2293): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 25 | 0.0400 | 2300 | c.259 others(2319): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2293): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0189 | 1 | 82 | 0.0122 | 2300 | c.439 others(2317): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2293): Show |
intron_variant | MODIFIER | HG02647.hp2 HG03098.hp1 HG03225.hp1 |
a0001a0002a0005 | a0001c0004a0002c0021a0005c0012 | a0001c0004t0007a0002c0021t0008a0005c0012t0008 | a0001c0004t0007g0228 a0002c0021t0008g0227 a0005c0012t0008g0194 |
3 | 84 | 0.0357 | 2300 | c.439 others(2317): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2293): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02896.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0002c0002t0008 | a0001c0001t0006g0188 a0002c0002t0008g0187 |
2 | 83 | 0.0241 | 2300 | c.439 others(2317): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2293): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0011 | a0011c0017 | a0011c0017t0002 | a0011c0017t0002g0189 | 1 | 2 | 0.5000 | 2300 | c.801 others(2317): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2293): Show |
intron_variant | MODIFIER | NA19003.hp2 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0020 | 1 | 143 | 0.0070 | 2300 | c.58- others(2317): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SAR1B_chr5_134596149_134637828 | 134619330 | C | CAAAAAAA others(2293): Show |
intron_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0277 | 1 | 266 | 0.0038 | 2300 | c.178 others(2317): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | |||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2293): Show |
upstream_gene_variant | MODIFIER | HG01175.hp1 HG01175.hp2 HG01243.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0015 others(7): Show |
15 | 103 | 0.1456 | 2300 | c.-48 others(2311): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2293): Show |
upstream_gene_variant | MODIFIER | HG02132.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0122 | 1 | 89 | 0.0112 | 2300 | c.-48 others(2311): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2293): Show |
upstream_gene_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 89 | 0.0112 | 2300 | c.-48 others(2311): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2293): Show |
upstream_gene_variant | MODIFIER | NA19086.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0061 | 1 | 89 | 0.0112 | 2300 | c.-48 others(2311): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311140 | C | CAGTATGC others(2293): Show |
intron_variant | MODIFIER | HG01106.hp1 NA20752.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0292 a0001c0001t0003g0294 |
2 | 320 | 0.0063 | 2300 | c.327 others(2317): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
TMEM242_chr6_157284025_157328519 | 157311140 | C | CAGTATGC others(2293): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0278 | 1 | 319 | 0.0031 | 2300 | c.327 others(2317): Show |
TMEM242 | ENSG00000215712.11 | transcript | ENST00000400788.9 | protein_coding | 3/3 | chr6 | TogoVar | |||||||
VPS13D_chr1_12225030_12517047 | 12415597 | T | TGAACTTG others(2293): Show |
intron_variant | MODIFIER | HG02273.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0049 | 1 | 142 | 0.0070 | 2300 | c.121 others(2319): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 64/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12415597 | T | TGAACTTG others(2293): Show |
intron_variant | MODIFIER | NA18951.hp1 NA18971.hp2 NA18977.hp1 others(3): Show |
a0001 | a0001c0003 | a0001c0003t0002a0001c0003t0005a0001c0003t0017 | a0001c0003t0002g0055 a0001c0003t0002g0056 a0001c0003t0005g0050 others(3): Show |
6 | 147 | 0.0408 | 2300 | c.121 others(2319): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 64/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
VPS13D_chr1_12225030_12517047 | 12415597 | T | TGAACTTG others(2293): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0003 | a0001c0003t0005 | a0001c0003t0005g0053 | 1 | 142 | 0.0070 | 2300 | c.121 others(2319): Show |
VPS13D | ENSG00000048707.15 | transcript | ENST00000620676.6 | protein_coding | 64/69 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ADAM22_chr7_87929251_88207889 | 88046907 | T | TTACTCTT others(2294): Show |
intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0012 | a0001c0012t0001 | a0001c0012t0001g0011 | 1 | 228 | 0.0044 | 2301 | c.324 others(2320): Show |
ADAM22 | ENSG00000008277.15 | transcript | ENST00000413139.2 | protein_coding | 3/31 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
AP2A2_chr11_920870_1017240 | 964867 | A | ATGGAAAG others(2294): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0005 | 1 | 23 | 0.0435 | 2301 | c.137 others(2318): Show |
AP2A2 | ENSG00000183020.15 | transcript | ENST00000448903.7 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2294): Show |
downstream_gene_variant | MODIFIER | HG01256.hp2 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0313 | 1 | 88 | 0.0114 | 2301 | c.*92 others(2312): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2294): Show |
downstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0027 | 1 | 88 | 0.0114 | 2301 | c.*92 others(2312): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2294): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00609.hp2 others(39): Show |
a0001a0005 | a0001c0001a0001c0010a0005c0009 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(17): Show | a0001c0001t0001g0001 a0001c0001t0001g0004 a0001c0001t0001g0007 others(37): Show |
42 | 129 | 0.3256 | 2301 | c.*92 others(2312): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | |||||||
CHST6_chr16_75467052_75500441 | 75469431 | A | AAAAAAAA others(2294): Show |
downstream_gene_variant | MODIFIER | NA18969.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 370 | 0.0027 | 2301 | c.*92 others(2312): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2620 | chr16 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 478076 | G | GGGGAAGG others(2294): Show |
intron_variant | MODIFIER | HG02027.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0023 | 1 | 52 | 0.0192 | 2301 | c.158 others(2318): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 2/36 | chr10 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2294): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0145 | 1 | 8 | 0.1250 | 2301 | c.723 others(2318): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
LAMA5_chr20_62304065_62372312 | 62318240 | G | GGAAGGGG others(2294): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0054 | a0054c0023 | a0054c0023t0001 | a0054c0023t0001g0009 | 1 | 8 | 0.1250 | 2301 | c.723 others(2318): Show |
LAMA5 | ENSG00000130702.15 | transcript | ENST00000252999.7 | protein_coding | 53/79 | chr20 | TogoVar | |||||||
PIP5K1C_chr19_3625183_3705468 | 3649063 | A | ATGCCCAC others(2294): Show |
intron_variant | MODIFIER | HG02818.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0201 | 1 | 308 | 0.0032 | 2301 | c.112 others(2318): Show |
PIP5K1C | ENSG00000186111.11 | transcript | ENST00000335312.8 | protein_coding | 8/17 | chr19 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2294): Show |
intron_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0095 | a0002c0095t0001 | a0002c0095t0001g0178 | 1 | 2 | 0.5000 | 2301 | c.801 others(2318): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
RAB11FIP3_chr16_420649_528011 | 458540 | C | CCACAGGG others(2294): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0173 | 1 | 269 | 0.0037 | 2301 | c.715 others(2318): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RAB11FIP3_chr16_420649_528011 | 458604 | G | GGGTTCAC others(2294): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0167 | 1 | 207 | 0.0048 | 2301 | c.715 others(2318): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2294): Show |
intron_variant | MODIFIER | HG03669.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0180 | 1 | 143 | 0.0070 | 2301 | c.58- others(2318): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2294): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0162 | 1 | 143 | 0.0070 | 2301 | c.58- others(2318): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2294): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0142 | 1 | 143 | 0.0070 | 2301 | c.58- others(2318): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2294): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00558.hp2 HG00609.hp1 others(29): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(18): Show | a0001c0001t0001g0179 a0001c0001t0004g0054 a0001c0001t0004g0224 others(29): Show |
32 | 174 | 0.1839 | 2301 | c.58- others(2318): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2294): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02809.hp1 HG03139.hp2 others(6): Show |
a0001a0002a0010 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0008others(5): Show | a0001c0001t0001g0129 a0001c0001t0001g0246 a0001c0001t0002g0230 others(6): Show |
9 | 151 | 0.0596 | 2301 | c.58- others(2318): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2294): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0053 | 1 | 143 | 0.0070 | 2301 | c.58- others(2318): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2294): Show |
upstream_gene_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0027 | 1 | 89 | 0.0112 | 2301 | c.-48 others(2312): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2294): Show |
upstream_gene_variant | MODIFIER | NA18946.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059 | 1 | 89 | 0.0112 | 2301 | c.-48 others(2312): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2294): Show |
upstream_gene_variant | MODIFIER | HG00280.hp1 HG00423.hp1 HG01070.hp2 others(30): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(7): Show | a0001c0001t0001g0002 a0001c0001t0001g0005 a0001c0001t0001g0007 others(21): Show |
33 | 121 | 0.2727 | 2301 | c.-48 others(2312): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2294): Show |
upstream_gene_variant | MODIFIER | NA18939.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 89 | 0.0112 | 2301 | c.-48 others(2312): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | |||||||
TMEM170A_chr16_75438054_75469689 | 75469431 | A | AAAAAAAA others(2294): Show |
upstream_gene_variant | MODIFIER | NA18969.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 360 | 0.0028 | 2301 | c.-48 others(2312): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4743 | chr16 | TogoVar | |||||||
TYW1_chr7_66991833_67244514 | 67078263 | T | TTTTTTGT others(2294): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01943.hp2 HG02004.hp1 |
a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0302 a0002c0004t0002g0308 a0002c0004t0002g0309 |
3 | 361 | 0.0083 | 2301 | c.127 others(2320): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2295): Show |
intron_variant | MODIFIER | HG02559.hp1 | a0003 | a0003c0016 | a0003c0016t0007 | a0003c0016t0007g0294 | 1 | 50 | 0.0200 | 2302 | c.147 others(2319): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2295): Show |
intron_variant | MODIFIER | NA18984.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 76 | 0.0132 | 2302 | c.955 others(2319): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
C12orf57_chr12_6939022_6951002 | 6949994 | C | CTGGTCTC others(2295): Show |
downstream_gene_variant | MODIFIER | HG02976.hp1 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 11 | 0.1818 | 2302 | c.*40 others(2313): Show |
C12orf57 | ENSG00000111678.11 | transcript | ENST00000229281.6 | protein_coding | 3993 | chr12 | TogoVar |