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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CCDC6_chr10_59783747_59911556 | 59882429 | G | GGGGGAGA others(2270): Show |
intron_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0006 | a0001c0006t0002 | a0001c0006t0002g0275 | 1 | 245 | 0.0041 | 2277 | c.303 others(2296): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | |||||||
CHRM3_chr1_239381568_239920450 | 239412305 | T | TCCTCCCT others(2270): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0022 | 1 | 2 | 0.5000 | 2277 | c.-52 others(2298): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 1/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469419 | A | AAAAAAAA others(2270): Show |
downstream_gene_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0147 | 1 | 370 | 0.0027 | 2277 | c.*92 others(2288): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2632 | chr16 | TogoVar | |||||||
EHMT1_chr9_137614005_137841127 | 137716361 | G | GTGGTGTC others(2270): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0101 | 1 | 88 | 0.0114 | 2277 | c.86- others(2290): Show |
EHMT1 | ENSG00000181090.21 | transcript | ENST00000460843.6 | protein_coding | 2/26 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2270): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0006 | a0001c0006t0007 | a0001c0006t0007g0301 | 1 | 82 | 0.0122 | 2277 | c.439 others(2294): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2270): Show |
upstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0058 | 1 | 61 | 0.0164 | 2277 | c.-11 others(2288): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2270): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 61 | 0.0164 | 2277 | c.-11 others(2288): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | |||||||
KIAA0319L_chr1_35428492_35562403 | 35527186 | T | TCATTTTA others(2270): Show |
intron_variant | MODIFIER | HG01167.hp2 HG02257.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0019 | a0001c0001t0001g0073 a0001c0001t0019g0083 |
2 | 310 | 0.0065 | 2277 | c.143 others(2296): Show |
KIAA0319L | ENSG00000142687.19 | transcript | ENST00000325722.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2270): Show |
intron_variant | MODIFIER | HG03098.hp1 HG03453.hp1 |
a0001 | a0001c0026 | a0001c0026t0001 | a0001c0026t0001g0234 a0001c0026t0001g0235 |
2 | 5 | 0.4000 | 2277 | c.515 others(2294): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
RAB3B_chr1_51902956_51995700 | 51906869 | A | AAGGGAAG others(2270): Show |
downstream_gene_variant | MODIFIER | HG03041.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0004 | 1 | 13 | 0.0769 | 2277 | c.*13 others(2290): Show |
RAB3B | ENSG00000169213.7 | transcript | ENST00000371655.4 | protein_coding | 1086 | chr1 | TogoVar | |||||||
RPEL1_chr10_103240887_103253016 | 103251122 | C | CCACCACC others(2270): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0007 | a0001c0001t0007g0000 | 1 | 322 | 0.0031 | 2277 | c.*44 others(2288): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3107 | chr10 | TogoVar | |||||||
RTEL1_chr20_63653312_63701245 | 63693699 | A | ACCTCCAC others(2270): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0002 | a0002c0015 | a0002c0015t0004 | a0002c0015t0004g0004 | 1 | 47 | 0.0213 | 2277 | c.299 others(2294): Show |
RTEL1 | ENSG00000258366.12 | transcript | ENST00000360203.11 | protein_coding | 30/34 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
SERINC2_chr1_31408213_31439678 | 31432065 | A | ATAGGGTG others(2270): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0004 | a0001c0004t0003 | a0001c0004t0003g0208 | 1 | 358 | 0.0028 | 2277 | c.101 others(2294): Show |
SERINC2 | ENSG00000168528.12 | transcript | ENST00000373709.8 | protein_coding | 8/9 | chr1 | TogoVar | |||||||
TMEM178B_chr7_141069064_141485380 | 141337156 | C | CACCACCA others(2270): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0024 | a0001c0002t0024g0063 | 1 | 34 | 0.0294 | 2277 | c.497 others(2298): Show |
TMEM178B | ENSG00000261115.7 | transcript | ENST00000565468.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469418 | A | AAAAAAAA others(2271): Show |
downstream_gene_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0303 | 1 | 370 | 0.0027 | 2278 | c.*92 others(2289): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2633 | chr16 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2271): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0159 | 1 | 82 | 0.0122 | 2278 | c.439 others(2295): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2271): Show |
intron_variant | MODIFIER | NA18950.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0258 | 1 | 82 | 0.0122 | 2278 | c.439 others(2295): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
KIAA0319L_chr1_35428492_35562403 | 35527186 | T | TCATTTTA others(2271): Show |
intron_variant | MODIFIER | HG01069.hp2 HG01169.hp1 HG02559.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0072 a0001c0001t0001g0074 a0001c0001t0001g0076 others(2): Show |
5 | 313 | 0.0160 | 2278 | c.143 others(2297): Show |
KIAA0319L | ENSG00000142687.19 | transcript | ENST00000325722.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2271): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0011 | 1 | 2 | 0.5000 | 2278 | c.801 others(2295): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2271): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0055 | a0055c0049 | a0055c0049t0027 | a0055c0049t0027g0215 | 1 | 2 | 0.5000 | 2278 | c.801 others(2295): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PPP6R2_chr22_50338327_50450090 | 50397569 | C | CTGTCATC others(2271): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0003 | a0001c0003t0028 | a0001c0003t0028g0075 | 1 | 242 | 0.0041 | 2278 | c.227 others(2295): Show |
PPP6R2 | ENSG00000100239.16 | transcript | ENST00000612753.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
SPIRE2_chr16_89823475_89876319 | 89852377 | C | CCCATATT others(2271): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0236 | 1 | 304 | 0.0033 | 2278 | c.645 others(2295): Show |
SPIRE2 | ENSG00000204991.11 | transcript | ENST00000378247.8 | protein_coding | 3/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469418 | A | AAAAAAAA others(2271): Show |
upstream_gene_variant | MODIFIER | HG02523.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010 | 1 | 360 | 0.0028 | 2278 | c.-48 others(2289): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4730 | chr16 | TogoVar | |||||||
AHRR_chr5_316714_443285 | 415308 | T | TGGGAGGC others(2272): Show |
intron_variant | MODIFIER | HG02683.hp2 | a0003 | a0003c0004 | a0003c0004t0004 | a0003c0004t0004g0011 | 1 | 253 | 0.0040 | 2279 | c.441 others(2296): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 5/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CDHR2_chr5_176544342_176600824 | 176591775 | G | GTGATGGT others(2272): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0098 | 1 | 176 | 0.0057 | 2279 | c.373 others(2296): Show |
CDHR2 | ENSG00000074276.11 | transcript | ENST00000261944.10 | protein_coding | 30/31 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
CRIP2_chr14_105469821_105485162 | 105477719 | G | GGGGAAGC others(2272): Show |
intron_variant | MODIFIER | NA20905.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0115 | 1 | 2 | 0.5000 | 2279 | c.44- others(2292): Show |
CRIP2 | ENSG00000182809.11 | transcript | ENST00000329146.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DLGAP2_chr8_732628_1713476 | 978353 | T | TGTGGGGA others(2272): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0030 | 1 | 29 | 0.0345 | 2279 | c.73+ others(2296): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2272): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0251 | 1 | 82 | 0.0122 | 2279 | c.439 others(2296): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GPRIN1_chr5_176590802_176615156 | 176591775 | G | GTGATGGT others(2272): Show |
downstream_gene_variant | MODIFIER | HG00323.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 209 | 0.0048 | 2279 | c.*50 others(2290): Show |
GPRIN1 | ENSG00000169258.7 | transcript | ENST00000303991.5 | protein_coding | 4026 | chr5 | TogoVar | |||||||
KIAA0319L_chr1_35428492_35562403 | 35527186 | T | TCATTTTA others(2272): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01243.hp1 HG02486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 a0001c0001t0001g0075 a0001c0001t0001g0082 others(1): Show |
4 | 312 | 0.0128 | 2279 | c.143 others(2298): Show |
KIAA0319L | ENSG00000142687.19 | transcript | ENST00000325722.8 | protein_coding | 2/20 | chr1 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2272): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02109.hp2 |
a0001a0007 | a0001c0001a0007c0028 | a0001c0001t0001a0007c0028t0004 | a0001c0001t0001g0024 a0007c0028t0004g0017 |
2 | 5 | 0.4000 | 2279 | c.515 others(2296): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
NXN_chr17_794310_984776 | 841651 | C | CGCATCTC others(2272): Show |
intron_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0006 | 1 | 230 | 0.0043 | 2279 | c.361 others(2298): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2272): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0069 | a0069c0102 | a0069c0102t0001 | a0069c0102t0001g0186 | 1 | 2 | 0.5000 | 2279 | c.801 others(2296): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2272): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0016 | a0016c0019 | a0016c0019t0002 | a0016c0019t0002g0210 | 1 | 2 | 0.5000 | 2279 | c.801 others(2296): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PPP1R14C_chr6_150138044_150255392 | 150167969 | T | TCTCCCCT others(2272): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0178 | 1 | 228 | 0.0044 | 2279 | c.306 others(2298): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414399 | G | GGGGGGCC others(2272): Show |
intron_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0011 | a0001c0011t0004 | a0001c0011t0004g0034 | 1 | 312 | 0.0032 | 2279 | c.115 others(2296): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
ACTN2_chr1_236681499_236769631 | 236713593 | T | TCTGTGTG others(2273): Show |
intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 318 | 0.0031 | 2280 | c.127 others(2297): Show |
ACTN2 | ENSG00000077522.15 | transcript | ENST00000366578.6 | protein_coding | 1/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2273): Show |
downstream_gene_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0010 | a0002c0010t0003 | a0002c0010t0003g0090 | 1 | 69 | 0.0145 | 2280 | c.*52 others(2291): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | |||||||
CYP4F11_chr19_15907377_15939529 | 15933883 | A | AGGAGAGG others(2273): Show |
intron_variant | MODIFIER | HG01515.hp1 | a0001 | a0001c0004 | a0001c0004t0004 | a0001c0004t0004g0017 | 1 | 163 | 0.0061 | 2280 | c.198 others(2295): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | |||||||
EVC2_chr4_5557439_5713559 | 5706437 | G | GATACATA others(2273): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0015 | a0002c0015t0001 | a0002c0015t0001g0092 | 1 | 230 | 0.0043 | 2280 | c.228 others(2297): Show |
EVC2 | ENSG00000173040.13 | transcript | ENST00000344408.10 | protein_coding | 1/21 | chr4 | TogoVar | |||||||
EVC_chr4_5706201_5819305 | 5706437 | G | GATACATA others(2273): Show |
upstream_gene_variant | MODIFIER | HG02559.hp2 | a0038 | a0038c0049 | a0038c0049t0031 | a0038c0049t0031g0085 | 1 | 293 | 0.0034 | 2280 | c.-49 others(2291): Show |
EVC | ENSG00000072840.13 | transcript | ENST00000264956.11 | protein_coding | 4763 | chr4 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2273): Show |
intron_variant | MODIFIER | HG00597.hp2 HG01358.hp2 HG01993.hp2 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0004g0236 a0001c0001t0005g0013 a0001c0001t0006g0250 others(10): Show |
13 | 94 | 0.1383 | 2280 | c.439 others(2297): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2273): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0115 | 1 | 82 | 0.0122 | 2280 | c.439 others(2297): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2273): Show |
intron_variant | MODIFIER | HG02970.hp1 | a0001 | a0001c0006 | a0001c0006t0021 | a0001c0006t0021g0211 | 1 | 82 | 0.0122 | 2280 | c.439 others(2297): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
GFRA2_chr8_21685398_21793875 | 21766794 | C | CACAGCCA others(2273): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 82 | 0.0122 | 2280 | c.439 others(2297): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | |||||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2273): Show |
intron_variant | MODIFIER | HG01258.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0277 | 1 | 4 | 0.2500 | 2280 | c.515 others(2297): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGAG others(2273): Show |
intron_variant | MODIFIER | HG02109.hp1 | a0005 | a0005c0005 | a0005c0005t0004 | a0005c0005t0004g0009 | 1 | 2 | 0.5000 | 2280 | c.801 others(2297): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2273): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0010 | a0010c0010 | a0010c0010t0002 | a0010c0010t0002g0197 | 1 | 2 | 0.5000 | 2280 | c.801 others(2297): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | |||||||
TMC1_chr9_72516608_72843297 | 72647782 | A | AAACATTG others(2273): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0002 | a0002c0002 | a0002c0002t0015 | a0002c0002t0015g0021 | 1 | 170 | 0.0059 | 2280 | c.-52 others(2295): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72647782 | A | AAACATTG others(2273): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0022 | 1 | 170 | 0.0059 | 2280 | c.-52 others(2295): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar |