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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
TLR10_chr4_38767238_38787990 | 38770789 | A | ATATATAT others(201): Show |
downstream_gene_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00642.hp1 others(38): Show |
a0003a0004 | a0003c0010a0004c0004 | a0003c0010t0011a0004c0004t0003 | a0003c0010t0011g0017 a0004c0004t0003g0003 a0004c0004t0003g0016 others(12): Show |
41 | 327 | 0.1254 | 208 | c.*23 others(219): Show |
TLR10 | ENSG00000174123.11 | transcript | ENST00000308973.9 | protein_coding | 1448 | chr4 | TogoVar | |||||||
TMC8_chr17_78125771_78147968 | 78143074 | A | ACAGGTTC others(201): Show |
downstream_gene_variant | MODIFIER | HG00639.hp1 HG01106.hp1 HG02071.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008 | a0001c0001t0001g0008 a0001c0001t0001g0051 a0001c0001t0008g0020 |
8 | 269 | 0.0297 | 208 | c.*19 others(219): Show |
TMC8 | ENSG00000167895.16 | transcript | ENST00000318430.10 | protein_coding | 107 | chr17 | TogoVar | |||||||
TMEM120B_chr12_121707752_121787068 | 121747411 | G | GCACTGGG others(201): Show |
intron_variant | MODIFIER | HG01516.hp2 HG02135.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0025 | a0001c0001t0001g0108 a0001c0001t0025g0271 |
2 | 285 | 0.0070 | 208 | c.189 others(223): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM120B_chr12_121707752_121787068 | 121747917 | A | ACTGGGGT others(201): Show |
intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0052 | a0001c0001t0052g0093 | 1 | 296 | 0.0034 | 208 | c.189 others(223): Show |
TMEM120B | ENSG00000188735.13 | transcript | ENST00000449592.7 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TMEM184A_chr7_1537235_1561205 | 1551185 | C | CGGTACCC others(201): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 372 | 0.0027 | 208 | c.220 others(223): Show |
TMEM184A | ENSG00000164855.16 | transcript | ENST00000297477.10 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
TMEM184A_chr7_1537235_1561205 | 1551185 | C | CGGTACCC others(201): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0051 | 1 | 372 | 0.0027 | 208 | c.220 others(223): Show |
TMEM184A | ENSG00000164855.16 | transcript | ENST00000297477.10 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
TMEM210_chr9_137165858_137177056 | 137176089 | T | TTGGAAAT others(201): Show |
upstream_gene_variant | MODIFIER | HG02145.hp1 HG02280.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 382 | 0.0052 | 208 | c.-40 others(219): Show |
TMEM210 | ENSG00000185863.8 | transcript | ENST00000413619.3 | protein_coding | 4034 | chr9 | TogoVar | |||||||
TMTC1_chr12_29495840_29788942 | 29643719 | T | TATATAAA others(201): Show |
intron_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0145 | 1 | 35 | 0.0286 | 208 | c.939 others(227): Show |
TMTC1 | ENSG00000133687.16 | transcript | ENST00000539277.6 | protein_coding | 5/17 | chr12 | TogoVar | |||||||
TNK2_chr3_195858364_195913551 | 195881139 | G | GTGCCCCT others(201): Show |
intron_variant | MODIFIER | NA18986.hp1 | a0001 | a0001c0019 | a0001c0019t0003 | a0001c0019t0003g0134 | 1 | 207 | 0.0048 | 208 | c.887 others(223): Show |
TNK2 | ENSG00000061938.21 | transcript | ENST00000672887.2 | protein_coding | 6/15 | chr3 | TogoVar | |||||||
TPCN2_chr11_69043932_69095597 | 69092380 | C | CGGCTAAG others(201): Show |
downstream_gene_variant | MODIFIER | NA18941.hp1 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0262 a0001c0001t0005g0274 |
2 | 136 | 0.0147 | 208 | c.*44 others(219): Show |
TPCN2 | ENSG00000162341.18 | transcript | ENST00000294309.8 | protein_coding | 1784 | chr11 | TogoVar | |||||||
TPD52_chr8_80029745_80176564 | 80072347 | G | GTGTGTGT others(201): Show |
intron_variant | MODIFIER | NA19000.hp1 NA19068.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0187 a0001c0001t0001g0219 |
2 | 195 | 0.0103 | 208 | c.20- others(223): Show |
TPD52 | ENSG00000076554.16 | transcript | ENST00000518937.6 | protein_coding | 1/7 | chr8 | TogoVar | |||||||
TPK1_chr7_144446941_144841053 | 144780552 | G | GTATATTA others(201): Show |
intron_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0072 | 1 | 81 | 0.0123 | 208 | c.44- others(225): Show |
TPK1 | ENSG00000196511.15 | transcript | ENST00000360057.7 | protein_coding | 2/8 | chr7 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507519 | A | ATATACAT others(201): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0088 | 1 | 376 | 0.0027 | 208 | c.-23 others(225): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507571 | A | ATATGTAT others(201): Show |
intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0047 | a0001c0001t0047g0251 | 1 | 375 | 0.0027 | 208 | c.-23 others(225): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
TRAPPC9_chr8_139722725_140462744 | 140157221 | A | AAAGCCTC others(201): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0004 | a0001c0004t0033 | a0001c0004t0033g0084 | 1 | 79 | 0.0127 | 208 | c.255 others(229): Show |
TRAPPC9 | ENSG00000167632.18 | transcript | ENST00000438773.4 | protein_coding | 17/22 | chr8 | TogoVar | |||||||
TRIM49D1_chr11_89906409_89927245 | 89909282 | T | TTATATAT others(201): Show |
downstream_gene_variant | MODIFIER | HG02109.hp2 | a0004 | a0004c0005 | a0004c0005t0004 | a0004c0005t0004g0036 | 1 | 205 | 0.0049 | 208 | c.*23 others(219): Show |
TRIM49D1 | ENSG00000223417.9 | transcript | ENST00000420869.3 | protein_coding | 2126 | chr11 | TogoVar | |||||||
TRPC4AP_chr20_34997404_35097807 | 35097652 | C | CATATACA others(201): Show |
upstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0215 | 1 | 178 | 0.0056 | 208 | c.-48 others(219): Show |
TRPC4AP | ENSG00000100991.12 | transcript | ENST00000252015.3 | protein_coding | 4846 | chr20 | TogoVar | |||||||
TSPAN32_chr11_2297013_2323204 | 2306799 | A | AAGGAGGG others(201): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 2 | 410 | 0.0049 | 208 | c.280 others(225): Show |
TSPAN32 | ENSG00000064201.16 | transcript | ENST00000182290.9 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
TWIST2_chr2_238843085_238915534 | 238870297 | C | CACCACAC others(201): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0041 | 1 | 96 | 0.0104 | 208 | c.*35 others(227): Show |
TWIST2 | ENSG00000233608.5 | transcript | ENST00000612363.2 | protein_coding | 1/1 | chr2 | TogoVar | |||||||
UCN3_chr10_5359966_5379692 | 5369966 | C | CGTGTGTA others(201): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0337 | 1 | 441 | 0.0023 | 208 | c.-6- others(223): Show |
UCN3 | ENSG00000178473.7 | transcript | ENST00000380433.5 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
UGGT1_chr2_128086200_128200677 | 128155784 | T | TAAAAATT others(201): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0290 | 1 | 329 | 0.0030 | 208 | c.223 others(225): Show |
UGGT1 | ENSG00000136731.13 | transcript | ENST00000259253.11 | protein_coding | 20/40 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC13A_chr19_17596336_17693354 | 17631180 | T | TCCCTCCC others(201): Show |
intron_variant | MODIFIER | HG04199.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0174 | 1 | 223 | 0.0045 | 208 | c.342 others(225): Show |
UNC13A | ENSG00000130477.16 | transcript | ENST00000519716.7 | protein_coding | 28/43 | chr19 | TogoVar | |||||||
UNC80_chr2_209766832_210004296 | 209903533 | T | TTATATAT others(201): Show |
intron_variant | MODIFIER | HG02109.hp1 HG02886.hp2 NA18906.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0168 a0001c0001t0003g0169 a0001c0001t0003g0171 |
3 | 93 | 0.0323 | 208 | c.458 others(227): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 28/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209903533 | T | TTATATAT others(201): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0021 | 1 | 91 | 0.0110 | 208 | c.458 others(227): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 28/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209903533 | T | TTATATAT others(201): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0145 | 1 | 91 | 0.0110 | 208 | c.458 others(227): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 28/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209903533 | T | TTATATAT others(201): Show |
intron_variant | MODIFIER | HG03139.hp2 HG03209.hp1 |
a0001a0005 | a0001c0034a0005c0037 | a0001c0034t0003a0005c0037t0003 | a0001c0034t0003g0144 a0005c0037t0003g0172 |
2 | 92 | 0.0217 | 208 | c.458 others(227): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 28/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
UNC80_chr2_209766832_210004296 | 209903554 | T | TATATATA others(201): Show |
intron_variant | MODIFIER | HG01123.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0056 | 1 | 101 | 0.0099 | 208 | c.458 others(227): Show |
UNC80 | ENSG00000144406.19 | transcript | ENST00000673920.1 | protein_coding | 28/64 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
VCX2_chrX_8164944_8176267 | 8169405 | C | CCCTCCCT others(201): Show |
downstream_gene_variant | MODIFIER | HG02615.hp2 | a0006 | a0006c0007 | a0006c0007t0006 | a0006c0007t0006g0013 | 1 | 108 | 0.0093 | 208 | c.*62 others(217): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 538 | chrX | TogoVar | |||||||
VPS16_chr20_2835745_2871732 | 2842844 | C | CGATAGAT others(201): Show |
intron_variant | MODIFIER | HG00099.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 177 | 0.0056 | 208 | c.53+ others(223): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
VPS16_chr20_2835745_2871732 | 2842844 | C | CGATAGAT others(201): Show |
intron_variant | MODIFIER | HG03239.hp1 HG04228.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0073 a0001c0002t0001g0103 |
2 | 178 | 0.0112 | 208 | c.53+ others(223): Show |
VPS16 | ENSG00000215305.10 | transcript | ENST00000380445.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184895590 | T | TCCTCCTC others(201): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0215 | 1 | 271 | 0.0037 | 208 | c.200 others(225): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184895600 | C | CCCCCCCC others(201): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0206 | 1 | 260 | 0.0038 | 208 | c.200 others(225): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184895627 | T | TCCCCCCC others(201): Show |
intron_variant | MODIFIER | HG02602.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0220 | 1 | 269 | 0.0037 | 208 | c.200 others(225): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184895628 | C | CCCCCCCC others(201): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0216 | 1 | 208 | 0.0048 | 208 | c.200 others(225): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VPS8_chr3_184807166_185057604 | 184895628 | C | CCCCCCCT others(201): Show |
intron_variant | MODIFIER | HG00438.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0242 | 1 | 208 | 0.0048 | 208 | c.200 others(225): Show |
VPS8 | ENSG00000156931.16 | transcript | ENST00000625842.3 | protein_coding | 23/47 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
VWC2_chr7_49768638_49926950 | 49901870 | G | GAACACTG others(201): Show |
intron_variant | MODIFIER | HG02922.hp2 HG03486.hp2 HG03516.hp2 others(1): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0008a0003c0003t0035 | a0001c0001t0008g0195 a0001c0001t0008g0197 a0001c0001t0008g0198 others(1): Show |
4 | 231 | 0.0173 | 208 | c.827 others(227): Show |
VWC2 | ENSG00000188730.5 | transcript | ENST00000340652.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
WDR64_chr1_241647281_241807777 | 241674897 | T | TCCTTCTT others(201): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01081.hp2 HG01168.hp2 others(13): Show |
a0001a0004a0008 | a0001c0001a0001c0002a0004c0005others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0035 a0001c0001t0001g0153 a0001c0001t0001g0176 others(13): Show |
16 | 303 | 0.0528 | 208 | c.483 others(223): Show |
WDR64 | ENSG00000162843.18 | transcript | ENST00000437684.7 | protein_coding | 4/27 | chr1 | TogoVar | |||||||
WDR88_chr19_33127114_33180799 | 33150289 | T | TAAAAATA others(201): Show |
intron_variant | MODIFIER | HG00639.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0226 | 1 | 356 | 0.0028 | 208 | c.680 others(223): Show |
WDR88 | ENSG00000166359.11 | transcript | ENST00000355868.4 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
ZNF236_chr18_76817557_76977901 | 76975154 | C | CCTTTTCT others(201): Show |
downstream_gene_variant | MODIFIER | NA18945.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 224 | 0.0045 | 208 | c.*68 others(219): Show |
ZNF236 | ENSG00000130856.18 | transcript | ENST00000320610.14 | protein_coding | 2254 | chr18 | TogoVar | |||||||
ZNF543_chr19_57315472_57335770 | 57319177 | T | TACATATA others(201): Show |
upstream_gene_variant | MODIFIER | NA19083.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 242 | 0.0041 | 208 | c.-16 others(219): Show |
ZNF543 | ENSG00000178229.8 | transcript | ENST00000321545.5 | protein_coding | 1294 | chr19 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1049467 | G | GGCCCCCC others(202): Show |
intron_variant | MODIFIER | NA18983.hp2 | a0016 | a0016c0006 | a0016c0006t0002 | a0016c0006t0002g0006 | 1 | 26 | 0.0385 | 209 | c.255 others(224): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | TogoVar | |||||||
ABCA7_chr19_1035107_1070572 | 1049667 | A | AGCCCCCC others(202): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0015 | a0015c0016 | a0015c0016t0001 | a0015c0016t0001g0024 | 1 | 23 | 0.0435 | 209 | c.255 others(226): Show |
ABCA7 | ENSG00000064687.13 | transcript | ENST00000263094.11 | protein_coding | 18/46 | chr19 | TogoVar | |||||||
ABR_chr17_998519_1184981 | 1064407 | A | ACTGTTAT others(202): Show |
intron_variant | MODIFIER | HG02040.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0192 | 1 | 112 | 0.0089 | 209 | c.118 others(228): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 10/22 | chr17 | TogoVar | |||||||
ACAP3_chr1_1287391_1312930 | 1289847 | G | GTCTCTGC others(202): Show |
downstream_gene_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017 | 1 | 225 | 0.0044 | 209 | c.*37 others(220): Show |
ACAP3 | ENSG00000131584.19 | transcript | ENST00000354700.10 | protein_coding | 2543 | chr1 | TogoVar | |||||||
ADAMTS17_chr15_99966437_100346975 | 100011300 | G | GGGGAGGG others(202): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0004 | a0004c0003 | a0004c0003t0001 | a0004c0003t0001g0084 | 1 | 25 | 0.0400 | 209 | c.259 others(230): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111178 | A | AACCACCC others(202): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0262 | 1 | 300 | 0.0033 | 209 | c.401 others(226): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111178 | A | AACCACCC others(202): Show |
intron_variant | MODIFIER | HG02886.hp2 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0024 | 1 | 300 | 0.0033 | 209 | c.401 others(226): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111178 | A | AACCACCC others(202): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0003 | a0001c0003t0015 | a0001c0003t0015g0066 | 1 | 300 | 0.0033 | 209 | c.401 others(226): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | chr10 | TogoVar | |||||||
ADGRA1_chr10_133082924_133136675 | 133111307 | C | CCTCCCTC others(202): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0099 | 1 | 326 | 0.0031 | 209 | c.401 others(226): Show |
ADGRA1 | ENSG00000197177.16 | transcript | ENST00000392607.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
AHNAK2_chr14_104932253_104983374 | 104933704 | G | GGACGGGA others(202): Show |
downstream_gene_variant | MODIFIER | NA18941.hp2 | a0003 | a0003c0004 | a0003c0004t0002 | a0003c0004t0002g0155 | 1 | 353 | 0.0028 | 209 | c.*43 others(220): Show |
AHNAK2 | ENSG00000185567.7 | transcript | ENST00000333244.6 | protein_coding | 3548 | chr14 | TogoVar |