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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DLGAP2_chr8_732628_1713476 | 978353 | T | TGTGGGGA others(2272): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0003 | a0003c0005 | a0003c0005t0002 | a0003c0005t0002g0031 | 1 | 40 | 0.0250 | 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 | a0001c0001t0008 | a0001c0001t0008g0252 | 1 | 322 | 0.0031 | 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 | a0001c0001t0002g0005 | 1 | 397 | 0.0025 | 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 | a0001c0001t0001g0071a0001c0001t0001g0075a0001c0001t0001g0082others(1): Show | 4 | 324 | 0.0124 | 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 | a0001c0001t0001g0024a0007c0028t0004g0017 | 2 | 294 | 0.0068 | 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 | 242 | 0.0041 | 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 | a0063 | a0063c0102 | a0063c0102t0001 | a0063c0102t0001g0194 | 1 | 216 | 0.0046 | 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 | a0018 | a0018c0019 | a0018c0019t0002 | a0018c0019t0002g0210 | 1 | 216 | 0.0046 | 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 | 312 | 0.0032 | 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 | a0001c0011t0012 | a0001c0011t0012g0033 | 1 | 373 | 0.0027 | 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 | a0001c0001t0001g0042 | 1 | 344 | 0.0029 | 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 | 276 | 0.0036 | 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 | a0001c0004t0002 | a0001c0004t0002g0040 | 1 | 386 | 0.0026 | 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 | a0002c0015t0001g0093 | 1 | 292 | 0.0034 | 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 | a0035 | a0035c0049 | a0035c0049t0032 | a0035c0049t0032g0085 | 1 | 369 | 0.0027 | 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 | HG00099.hp1 HG00323.hp2 HG00408.hp2 others(78): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(8): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(25): Show | a0001c0001t0001g0003a0001c0001t0001g0008a0001c0001t0001g0011others(78): Show | 81 | 322 | 0.2516 | 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 | HG00597.hp2 HG01358.hp2 HG01993.hp2 others(10): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0003a0001c0004others(5): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0006others(10): Show | a0001c0001t0004g0222a0001c0001t0005g0251a0001c0001t0006g0013others(10): Show | 13 | 322 | 0.0404 | 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 | a0001c0001t0007 | a0001c0001t0007g0112 | 1 | 322 | 0.0031 | 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 | a0001c0006t0023 | a0001c0006t0023g0234 | 1 | 322 | 0.0031 | 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 | a0001c0001t0001g0064 | 1 | 322 | 0.0031 | 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 | a0001c0010t0001g0276 | 1 | 294 | 0.0034 | 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 | a0006 | a0006c0005 | a0006c0005t0004 | a0006c0005t0004g0009 | 1 | 216 | 0.0046 | 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 | 216 | 0.0046 | 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 | 182 | 0.0055 | 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 | 182 | 0.0055 | 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 | HG00735.hp2 NA20805.hp2 |
a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0104a0001c0001t0012g0105 | 2 | 182 | 0.0110 | 2280 | c.-52 others(2295): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185658 | A | ATAGGGCC others(2274): Show |
intron_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0212 | 1 | 338 | 0.0030 | 2281 | c.300 others(2298): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CCDC6_chr10_59783747_59911556 | 59882003 | T | TGGGGGGA others(2274): Show |
intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0093 | 1 | 288 | 0.0035 | 2281 | c.303 others(2300): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
EHMT1_chr9_137614005_137841127 | 137716060 | G | GGGGGAGG others(2274): Show |
intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0095 | 1 | 170 | 0.0059 | 2281 | c.86- others(2294): 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(2274): Show |
intron_variant | MODIFIER | HG06807.hp2 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0182 | 1 | 322 | 0.0031 | 2281 | c.439 others(2298): Show |
GFRA2 | ENSG00000168546.11 | transcript | ENST00000524240.6 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
KREMEN1_chr22_29068035_29151820 | 29120084 | T | TGGAGGAG others(2274): Show |
intron_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0285 | 1 | 368 | 0.0027 | 2281 | c.353 others(2298): Show |
KREMEN1 | ENSG00000183762.13 | transcript | ENST00000400335.9 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
LMF1_chr16_848634_975984 | 914617 | C | CCATGACC others(2274): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 294 | 0.0034 | 2281 | c.515 others(2298): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 3/10 | chr16 | TogoVar | ||||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGCGGGGA others(2274): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0072 | a0001c0072t0001 | a0001c0072t0001g0156 | 1 | 216 | 0.0046 | 2281 | c.801 others(2298): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
SLC6A3_chr5_1387794_1450440 | 1414431 | A | ACTGGGTG others(2274): Show |
intron_variant | MODIFIER | NA18990.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0217 | 1 | 373 | 0.0027 | 2281 | c.115 others(2298): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72647782 | A | AAACATTG others(2274): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0093 | 1 | 182 | 0.0055 | 2281 | c.-52 others(2296): 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(2274): Show |
intron_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0020 | 1 | 182 | 0.0055 | 2281 | c.-52 others(2296): 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(2274): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0155 | 1 | 182 | 0.0055 | 2281 | c.-52 others(2296): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647402 | C | CCCTCCTC others(2275): Show |
downstream_gene_variant | MODIFIER | NA18940.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0005 | 1 | 276 | 0.0036 | 2282 | c.*52 others(2293): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 2058 | chr15 | TogoVar | ||||||
DIDO1_chr20_62872743_62931505 | 62875260 | G | GCACCCGC others(2275): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0044 | 1 | 320 | 0.0031 | 2282 | c.*39 others(2293): Show |
DIDO1 | ENSG00000101191.17 | transcript | ENST00000395343.6 | protein_coding | 2482 | chr20 | TogoVar | ||||||
IFNAR1_chr21_33319970_33364864 | 33323366 | T | TATGGAAT others(2275): Show |
upstream_gene_variant | MODIFIER | HG04199.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 | 1 | 323 | 0.0031 | 2282 | c.-16 others(2293): Show |
IFNAR1 | ENSG00000142166.15 | transcript | ENST00000270139.8 | protein_coding | 1603 | chr21 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868087 | A | ATATATTA others(2275): Show |
upstream_gene_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0148 | 1 | 301 | 0.0033 | 2282 | c.-11 others(2293): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 792 | chr11 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2275): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01243.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0164a0001c0001t0001g0232 | 2 | 294 | 0.0068 | 2282 | c.153 others(2301): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2275): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0171 | 1 | 294 | 0.0034 | 2282 | c.153 others(2301): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35913964 | T | TAGTGAGT others(2275): Show |
downstream_gene_variant | MODIFIER | HG02965.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0003 | 1 | 420 | 0.0024 | 2282 | c.*32 others(2293): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2279 | chr9 | TogoVar | ||||||
TMC1_chr9_72516608_72843297 | 72647782 | A | AAACATTG others(2275): Show |
intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0099 | 1 | 182 | 0.0055 | 2282 | c.-52 others(2297): 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(2275): Show |
intron_variant | MODIFIER | NA19030.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0103 | 1 | 182 | 0.0055 | 2282 | c.-52 others(2297): Show |
TMC1 | ENSG00000165091.18 | transcript | ENST00000297784.10 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2275): Show |
upstream_gene_variant | MODIFIER | NA19055.hp1 | a0001 | a0001c0001 | a0001c0001t0031 | a0001c0001t0031g0104 | 1 | 361 | 0.0028 | 2282 | c.-48 others(2293): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
USP12_chr13_27061156_27176811 | 27063850 | A | AGGAAGGG others(2275): Show |
downstream_gene_variant | MODIFIER | NA19012.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008 | 1 | 167 | 0.0060 | 2282 | c.*54 others(2293): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2305 | chr13 | TogoVar | ||||||
ZNF605_chr12_132913306_132961306 | 132954429 | A | AGGAGAAG others(2275): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0057 | 1 | 126 | 0.0079 | 2282 | c.-28 others(2301): Show |
ZNF605 | ENSG00000196458.11 | transcript | ENST00000360187.9 | protein_coding | 1/4 | chr12 | TogoVar | ||||||
ADGRE2_chr19_14727392_14783560 | 14763755 | C | CCTCTCCT others(2276): Show |
intron_variant | MODIFIER | HG02698.hp2 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0011 | 1 | 218 | 0.0046 | 2283 | c.108 others(2300): Show |
ADGRE2 | ENSG00000127507.18 | transcript | ENST00000315576.8 | protein_coding | 11/20 | chr19 | TogoVar |