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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CAPN11_chr6_44153820_44189401 | 44181617 | A | ACACACAC others(641): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0289 | 1 | 460 | 0.0022 | 648 | c.193 others(665): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN11_chr6_44153820_44189401 | 44181617 | A | ACACACAC others(641): Show |
intron_variant | MODIFIER | HG02630.hp1 | a0008 | a0008c0008 | a0008c0008t0002 | a0008c0008t0002g0374 | 1 | 460 | 0.0022 | 648 | c.193 others(665): Show |
CAPN11 | ENSG00000137225.13 | transcript | ENST00000398776.2 | protein_coding | 19/22 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544721 | C | CCTCCCCC others(641): Show |
intron_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0004 | a0001c0004t0002 | a0001c0004t0002g0340 | 1 | 410 | 0.0024 | 648 | c.-22 others(665): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88888557 | T | TGGGGTGG others(641): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp1 others(47): Show |
a0001a0009a0015others(1): Show | a0001c0001a0001c0007a0009c0021others(2): Show | a0001c0001t0001a0001c0001t0013a0001c0001t0027others(4): Show | a0001c0001t0001g0004 a0001c0001t0001g0024 a0001c0001t0001g0026 others(47): Show |
50 | 284 | 0.1761 | 648 | c.712 others(665): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
CCDC88C_chr14_91266323_91422820 | 91293493 | T | TCCTCACC others(641): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp2 |
a0015 | a0015c0029 | a0015c0029t0001 | a0015c0029t0001g0198 a0015c0029t0001g0199 |
2 | 284 | 0.0070 | 648 | c.411 others(665): Show |
CCDC88C | ENSG00000015133.20 | transcript | ENST00000389857.11 | protein_coding | 23/29 | chr14 | TogoVar | |||||||
CFAP47_chrX_35914734_36390317 | 35966203 | A | GATATTAG others(641): Show |
intron_variant | MODIFIER | HG03834.hp2 HG04204.hp1 NA18954.hp2 others(1): Show |
a0002a0003 | a0002c0002a0002c0013a0003c0014 | a0002c0002t0001a0002c0013t0001a0003c0014t0001 | a0002c0002t0001g0162 a0002c0013t0001g0126 a0003c0014t0001g0098 others(1): Show |
4 | 216 | 0.0185 | 648 | c.141 others(665): Show |
CFAP47 | ENSG00000165164.14 | transcript | ENST00000378653.8 | protein_coding | 8/63 | chrX | TogoVar | |||||||
CMIP_chr16_81439808_81716762 | 81577268 | C | CCACCATC others(641): Show |
intron_variant | MODIFIER | NA18990.hp1 NA19007.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0009 | a0001c0001t0007g0249 a0001c0001t0009g0235 |
2 | 268 | 0.0075 | 648 | c.301 others(667): Show |
CMIP | ENSG00000153815.18 | transcript | ENST00000537098.8 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CNTN4_chr3_2093866_3062959 | 2705509 | A | ATATATAA others(641): Show |
intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0092 | 1 | 116 | 0.0086 | 648 | c.56- others(665): Show |
CNTN4 | ENSG00000144619.15 | transcript | ENST00000418658.6 | protein_coding | 4/24 | chr3 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110255766 | A | AGGGGAAA others(641): Show |
intron_variant | MODIFIER | NA18962.hp2 | a0001 | a0001c0007 | a0001c0007t0005 | a0001c0007t0005g0152 | 1 | 344 | 0.0029 | 648 | c.85- others(665): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110385546 | T | TTACAGTG others(641): Show |
intron_variant | MODIFIER | NA18987.hp1 | a0028 | a0028c0046 | a0028c0046t0002 | a0028c0046t0002g0295 | 1 | 372 | 0.0027 | 648 | c.180 others(667): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62825082 | A | AGGGAGAG others(641): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0043 | 1 | 412 | 0.0024 | 648 | c.630 others(661): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62825130 | A | AGGGAGGG others(641): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0293 | 1 | 412 | 0.0024 | 648 | c.630 others(663): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62825154 | A | AGGGAGGG others(641): Show |
intron_variant | MODIFIER | HG00558.hp2 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0126 | 1 | 412 | 0.0024 | 648 | c.630 others(663): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 12/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
CPNE4_chr3_131528569_132040014 | 131978270 | T | TTTTATAT others(641): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 94 | 0.0106 | 648 | c.-2+ others(665): Show |
CPNE4 | ENSG00000196353.13 | transcript | ENST00000429747.6 | protein_coding | 1/15 | chr3 | TogoVar | |||||||
CUL4A_chr13_113204613_113272108 | 113232154 | G | GTCACCAC others(641): Show |
intron_variant | MODIFIER | HG02135.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 396 | 0.0025 | 648 | c.513 others(665): Show |
CUL4A | ENSG00000139842.15 | transcript | ENST00000375440.9 | protein_coding | 5/19 | chr13 | TogoVar | |||||||
CYBC1_chr17_82437586_82455752 | 82448246 | A | AAGTGGAC others(641): Show |
intron_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0063 | 1 | 416 | 0.0024 | 648 | c.86- others(661): Show |
CYBC1 | ENSG00000178927.19 | transcript | ENST00000306645.10 | protein_coding | 2/6 | chr17 | TogoVar | |||||||
CYBC1_chr17_82437586_82455752 | 82448246 | A | AAGTGGAC others(641): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0053 | 1 | 416 | 0.0024 | 648 | c.86- others(661): Show |
CYBC1 | ENSG00000178927.19 | transcript | ENST00000306645.10 | protein_coding | 2/6 | chr17 | TogoVar | |||||||
CYBC1_chr17_82437586_82455752 | 82448246 | A | AAGTGGAC others(641): Show |
intron_variant | MODIFIER | HG01884.hp1 HG02559.hp1 HG03098.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0011 | 4 | 416 | 0.0096 | 648 | c.86- others(661): Show |
CYBC1 | ENSG00000178927.19 | transcript | ENST00000306645.10 | protein_coding | 2/6 | chr17 | TogoVar | |||||||
DCDC2_chr6_24166755_24363059 | 24238180 | G | GGGAGGAA others(641): Show |
intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0047 | 1 | 216 | 0.0046 | 648 | c.923 others(667): Show |
DCDC2 | ENSG00000146038.12 | transcript | ENST00000378454.8 | protein_coding | 7/9 | chr6 | TogoVar | |||||||
DEAF1_chr11_639233_700222 | 642838 | C | CCAGGCGG others(641): Show |
downstream_gene_variant | MODIFIER | NA19009.hp1 NA19081.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0185 a0001c0003t0001g0186 |
2 | 345 | 0.0058 | 648 | c.*17 others(659): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1394 | chr11 | TogoVar | |||||||
DIDO1_chr20_62872743_62931505 | 62875254 | C | CCACCCCC others(641): Show |
downstream_gene_variant | MODIFIER | NA18966.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0257 | 1 | 320 | 0.0031 | 648 | c.*39 others(659): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2488 | chr20 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 657444 | G | GCTGGACC others(641): Show |
intron_variant | MODIFIER | HG03130.hp2 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0001 | 1 | 88 | 0.0114 | 648 | c.85+ others(665): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 1/36 | chr10 | TogoVar | |||||||
DPP10_chr2_114437641_115850780 | 115438828 | T | TGGCTAAG others(641): Show |
intron_variant | MODIFIER | NA18970.hp2 | a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0011 | 1 | 56 | 0.0179 | 648 | c.272 others(667): Show |
DPP10 | ENSG00000175497.17 | transcript | ENST00000410059.6 | protein_coding | 3/25 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642838 | C | CCAGGCGG others(641): Show |
downstream_gene_variant | MODIFIER | NA18941.hp1 NA19009.hp2 NA19057.hp1 others(1): Show |
a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0001 a0003c0003t0001g0005 |
4 | 421 | 0.0095 | 648 | c.*22 others(659): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2133 | chr11 | TogoVar | |||||||
EEF1A2_chr20_63483014_63504083 | 63486870 | C | CCTGCATC others(641): Show |
downstream_gene_variant | MODIFIER | HG00609.hp1 HG01993.hp2 HG02071.hp2 others(11): Show |
a0001 | a0001c0002a0001c0004 | a0001c0002t0001a0001c0004t0001 | a0001c0002t0001g0037 a0001c0004t0001g0004 a0001c0004t0001g0063 others(3): Show |
14 | 374 | 0.0374 | 648 | c.*14 others(659): Show |
EEF1A2 | ENSG00000101210.14 | transcript | ENST00000217182.6 | protein_coding | 1143 | chr20 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3221310 | A | ACACTCAC others(641): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0232 | 1 | 250 | 0.0040 | 648 | c.417 others(665): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3221364 | G | ACACTCAC others(641): Show |
intron_variant | MODIFIER | NA19079.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0106 | 1 | 250 | 0.0040 | 648 | c.417 others(665): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3221418 | A | ACACTCAC others(641): Show |
intron_variant | MODIFIER | HG00323.hp1 HG02257.hp2 HG03579.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0160 a0001c0001t0002g0220 a0001c0001t0004g0162 |
3 | 250 | 0.0120 | 648 | c.417 others(665): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3221526 | A | ACACTCAC others(641): Show |
intron_variant | MODIFIER | HG00639.hp2 NA20129.hp1 NA20300.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0034 a0001c0001t0001g0165 a0001c0001t0007g0250 |
3 | 250 | 0.0120 | 648 | c.417 others(665): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3221688 | G | GCACTCAC others(641): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 250 | 0.0040 | 648 | c.417 others(665): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3221688 | G | GCACTCAC others(641): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 250 | 0.0040 | 648 | c.417 others(665): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
EP400_chr12_131944942_132085460 | 131998636 | T | TCTTTGTA others(641): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG01123.hp1 others(2): Show |
a0002a0010 | a0002c0001a0010c0019 | a0002c0001t0001a0010c0019t0001 | a0002c0001t0001g0037 a0002c0001t0001g0038 a0002c0001t0001g0121 others(2): Show |
5 | 208 | 0.0240 | 648 | c.282 others(667): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
EP400_chr12_131944942_132085460 | 131998879 | A | ACTTTGTA others(641): Show |
intron_variant | MODIFIER | HG01433.hp2 NA21309.hp1 |
a0001a0026 | a0001c0006a0026c0074 | a0001c0006t0001a0026c0074t0001 | a0001c0006t0001g0175 a0026c0074t0001g0161 |
2 | 208 | 0.0096 | 648 | c.282 others(667): Show |
EP400 | ENSG00000183495.15 | transcript | ENST00000389561.7 | protein_coding | 12/52 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
FARP2_chr2_241351285_241499841 | 241457540 | G | GCACTAAG others(641): Show |
intron_variant | MODIFIER | HG00609.hp2 HG00735.hp1 HG00738.hp2 others(17): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0006 | a0002c0002t0001g0256 a0002c0002t0001g0257 a0002c0002t0001g0259 others(17): Show |
20 | 378 | 0.0529 | 648 | c.158 others(665): Show |
FARP2 | ENSG00000006607.14 | transcript | ENST00000264042.8 | protein_coding | 14/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
FLT4_chr5_180596506_180654600 | 180635661 | A | AAGTATGG others(641): Show |
intron_variant | MODIFIER | HG02738.hp2 | a0025 | a0025c0048 | a0025c0048t0004 | a0025c0048t0004g0056 | 1 | 388 | 0.0026 | 648 | c.59- others(663): Show |
FLT4 | ENSG00000037280.16 | transcript | ENST00000261937.11 | protein_coding | 1/29 | chr5 | TogoVar | |||||||
FMN2_chr1_240086883_240480187 | 240185147 | T | TCCCCTTC others(641): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0055 | a0055c0058 | a0055c0058t0001 | a0055c0058t0001g0143 | 1 | 174 | 0.0058 | 648 | c.193 others(667): Show |
FMN2 | ENSG00000155816.21 | transcript | ENST00000319653.14 | protein_coding | 3/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
GALNS_chr16_88808734_88861947 | 88831751 | G | GAGCGGTG others(641): Show |
intron_variant | MODIFIER | HG00280.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0081 | 1 | 404 | 0.0025 | 648 | c.100 others(665): Show |
GALNS | ENSG00000141012.13 | transcript | ENST00000268695.10 | protein_coding | 9/13 | chr16 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113817317 | T | TCCTCCCC others(641): Show |
downstream_gene_variant | MODIFIER | HG02922.hp1 HG03130.hp1 |
a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0127 a0001c0007t0001g0128 |
2 | 143 | 0.0140 | 648 | c.*35 others(659): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3231 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113817317 | T | TCCTCCCC others(641): Show |
downstream_gene_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0109 | 1 | 143 | 0.0070 | 648 | c.*35 others(659): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3231 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113817317 | T | TCCTCCCC others(641): Show |
downstream_gene_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 143 | 0.0070 | 648 | c.*35 others(659): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3231 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113817328 | C | CGGGACAC others(641): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0099 | 1 | 143 | 0.0070 | 648 | c.*35 others(659): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3220 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113817328 | C | CGGGACAC others(641): Show |
downstream_gene_variant | MODIFIER | HG00609.hp2 HG01978.hp1 HG01993.hp2 others(2): Show |
a0001 | a0001c0003a0001c0004 | a0001c0003t0001a0001c0004t0001 | a0001c0003t0001g0031 a0001c0003t0001g0034 a0001c0003t0001g0035 others(2): Show |
5 | 143 | 0.0350 | 648 | c.*35 others(659): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3220 | chr13 | TogoVar | |||||||
GAS6_chr13_113815549_113869076 | 113817328 | C | CGGGACAC others(641): Show |
downstream_gene_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0123 | 1 | 143 | 0.0070 | 648 | c.*35 others(659): Show |
GAS6 | ENSG00000183087.15 | transcript | ENST00000327773.7 | protein_coding | 3220 | chr13 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55032975 | T | TAGACGCG others(641): Show |
intron_variant | MODIFIER | HG02056.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 441 | 0.0023 | 648 | c.35- others(661): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 1/7 | chr19 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55032975 | T | TAGACGCG others(641): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0041 | a0002c0041t0001 | a0002c0041t0001g0124 | 1 | 441 | 0.0023 | 648 | c.35- others(661): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 1/7 | chr19 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55032975 | T | TAGACGCG others(641): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0125 | 1 | 441 | 0.0023 | 648 | c.35- others(661): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 1/7 | chr19 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55032975 | T | TAGACGCG others(641): Show |
intron_variant | MODIFIER | HG00323.hp2 NA18982.hp1 NA19064.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0119 a0001c0001t0001g0190 a0001c0001t0001g0217 |
3 | 441 | 0.0068 | 648 | c.35- others(661): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 1/7 | chr19 | TogoVar | |||||||
GP6_chr19_55008705_55043264 | 55032975 | T | TAGACGCG others(641): Show |
intron_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0206 | 1 | 441 | 0.0023 | 648 | c.35- others(661): Show |
GP6 | ENSG00000088053.11 | transcript | ENST00000310373.7 | protein_coding | 1/7 | chr19 | TogoVar | |||||||
GPR173_chrX_53043789_53085615 | 53074114 | T | TTATATAT others(641): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0136 | 1 | 208 | 0.0048 | 648 | c.-97 others(665): Show |
GPR173 | ENSG00000184194.6 | transcript | ENST00000332582.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
HIVEP3_chr1_41501365_41923922 | 41544953 | T | TCTACCAC others(641): Show |
intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0046 | 1 | 134 | 0.0075 | 648 | c.520 others(669): Show |
HIVEP3 | ENSG00000127124.16 | transcript | ENST00000372583.6 | protein_coding | 5/8 | chr1 | TogoVar |