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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2296): Show |
downstream_gene_variant | MODIFIER | HG01106.hp1 NA18977.hp1 NA18995.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0009others(1): Show | a0001c0001t0001g0009a0001c0001t0001g0254a0001c0001t0003g0144others(3): Show | 6 | 371 | 0.0162 | 2303 | c.*92 others(2314): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2296): Show |
downstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0352 | 1 | 371 | 0.0027 | 2303 | c.*92 others(2314): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2296): Show |
downstream_gene_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0095 | 1 | 371 | 0.0027 | 2303 | c.*92 others(2314): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2296): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG02300.hp1 NA18992.hp1 |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0086 | a0001c0001t0008g0126a0001c0001t0008g0156a0001c0001t0086g0160 | 3 | 371 | 0.0081 | 2303 | c.*92 others(2314): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2296): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 | a0001 | a0001c0001 | a0001c0001t0110 | a0001c0001t0110g0348 | 1 | 371 | 0.0027 | 2303 | c.*92 others(2314): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2296): Show |
downstream_gene_variant | MODIFIER | NA18979.hp1 | a0001 | a0001c0001 | a0001c0001t0018 | a0001c0001t0018g0344 | 1 | 371 | 0.0027 | 2303 | c.*92 others(2314): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2296): Show |
downstream_gene_variant | MODIFIER | HG00558.hp2 HG00621.hp2 HG02015.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0087others(1): Show | a0001c0001t0001g0084a0001c0001t0003g0210a0001c0001t0003g0324others(2): Show | 5 | 371 | 0.0135 | 2303 | c.*92 others(2314): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2296): Show |
downstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0039 | 1 | 371 | 0.0027 | 2303 | c.*92 others(2314): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
DLC1_chr8_13078361_13519851 | 13384464 | G | GAAATGCT others(2296): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0075 | 1 | 212 | 0.0047 | 2303 | c.131 others(2322): Show |
DLC1 | ENSG00000164741.15 | transcript | ENST00000276297.9 | protein_coding | 4/17 | chr8 | TogoVar | ||||||
FOXP1_chr3_70949708_71588728 | 71435509 | C | CGGAGGGA others(2296): Show |
intron_variant | MODIFIER | HG02922.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0063 | 1 | 96 | 0.0104 | 2303 | c.-16 others(2324): Show |
FOXP1 | ENSG00000114861.24 | transcript | ENST00000649528.3 | protein_coding | 3/20 | chr3 | TogoVar | ||||||
LUZP2_chr11_24492053_25087638 | 24919131 | T | TATATACT others(2296): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0075 | 1 | 116 | 0.0086 | 2303 | c.522 others(2320): Show |
LUZP2 | ENSG00000187398.12 | transcript | ENST00000336930.11 | protein_coding | 7/11 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2296): Show |
frameshift_variant | HIGH | NA18974.hp2 | a0186 | a0186c0128 | a0186c0128t0001 | a0186c0128t0001g0170 | 1 | 249 | 0.0040 | 2303 | c.390 others(2312): Show |
p.Ser others(6): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | ||
PAK2_chr3_196734857_196837647 | 196811199 | C | CTCCCTTC others(2296): Show |
intron_variant | MODIFIER | HG01517.hp1 | a0001 | a0001c0001 | a0001c0001t0026 | a0001c0001t0026g0078 | 1 | 178 | 0.0056 | 2303 | c.773 others(2318): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2296): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0006 | a0006c0005 | a0006c0005t0004 | a0006c0005t0004g0008 | 1 | 216 | 0.0046 | 2303 | c.801 others(2320): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar | ||||||
PRPF31_chr19_54110754_54136713 | 54133762 | C | CCTCTCTC others(2296): Show |
downstream_gene_variant | MODIFIER | NA18960.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0018 | 1 | 227 | 0.0044 | 2303 | c.*23 others(2314): Show |
PRPF31 | ENSG00000105618.14 | transcript | ENST00000321030.9 | protein_coding | 2050 | chr19 | TogoVar | ||||||
RIN2_chr20_19753258_20007456 | 19924462 | T | TCACCTTC others(2296): Show |
intron_variant | MODIFIER | HG03130.hp1 HG03471.hp1 NA18522.hp1 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0009a0002c0003t0001a0002c0003t0023 | a0001c0001t0009g0029a0002c0003t0001g0016a0002c0003t0023g0052 | 3 | 276 | 0.0109 | 2303 | c.58- others(2320): 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(2296): Show |
intron_variant | MODIFIER | HG01109.hp2 HG02280.hp2 HG02559.hp1 others(9): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0007others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0012others(8): Show | a0001c0001t0001g0255a0001c0001t0002g0132a0001c0001t0012g0204others(9): Show | 12 | 276 | 0.0435 | 2303 | c.58- others(2320): Show |
RIN2 | ENSG00000132669.14 | transcript | ENST00000255006.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
RPEL1_chr10_103240887_103253016 | 103251131 | C | CCAACACC others(2296): Show |
downstream_gene_variant | MODIFIER | NA18971.hp2 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0000 | 2 | 375 | 0.0053 | 2303 | c.*44 others(2314): Show |
RPEL1 | ENSG00000235376.5 | transcript | ENST00000441178.2 | protein_coding | 3116 | chr10 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 218124 | C | CTCGCTGA others(2296): Show |
intron_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0053 | 1 | 133 | 0.0075 | 2303 | c.727 others(2320): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 8/9 | chr17 | TogoVar | ||||||
SDK1_chr7_3296252_4274000 | 3976544 | A | AGGGTCCC others(2296): Show |
intron_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0004 | a0001c0004t0005 | a0001c0004t0005g0102 | 1 | 116 | 0.0086 | 2303 | c.199 others(2322): Show |
SDK1 | ENSG00000146555.20 | transcript | ENST00000404826.7 | protein_coding | 13/44 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2296): Show |
upstream_gene_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 361 | 0.0028 | 2303 | c.-48 others(2314): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2296): Show |
upstream_gene_variant | MODIFIER | HG01106.hp1 NA18943.hp1 NA18995.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018 | a0001c0001t0001g0002a0001c0001t0001g0023a0001c0001t0001g0053others(1): Show | 5 | 361 | 0.0139 | 2303 | c.-48 others(2314): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2296): Show |
upstream_gene_variant | MODIFIER | NA19080.hp2 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0021 | 1 | 361 | 0.0028 | 2303 | c.-48 others(2314): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2296): Show |
upstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0052 | 1 | 361 | 0.0028 | 2303 | c.-48 others(2314): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2296): Show |
upstream_gene_variant | MODIFIER | HG01192.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 361 | 0.0028 | 2303 | c.-48 others(2314): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2296): Show |
upstream_gene_variant | MODIFIER | NA18979.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 361 | 0.0028 | 2303 | c.-48 others(2314): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2296): Show |
upstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0096 | 1 | 361 | 0.0028 | 2303 | c.-48 others(2314): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2296): Show |
upstream_gene_variant | MODIFIER | HG00558.hp2 HG00621.hp1 NA18989.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010a0001c0001t0016 | a0001c0001t0001g0005a0001c0001t0001g0122a0001c0001t0010g0090others(1): Show | 4 | 361 | 0.0111 | 2303 | c.-48 others(2314): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TMEM170A_chr16_75438054_75469689 | 75469417 | C | CAAAAAAA others(2296): Show |
upstream_gene_variant | MODIFIER | HG01069.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 361 | 0.0028 | 2303 | c.-48 others(2314): Show |
TMEM170A | ENSG00000166822.13 | transcript | ENST00000561878.2 | protein_coding | 4729 | chr16 | TogoVar | ||||||
TYW1_chr7_66991833_67244514 | 67078263 | T | TTTTTTGT others(2296): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0283 | 1 | 364 | 0.0028 | 2303 | c.127 others(2322): Show |
TYW1 | ENSG00000198874.14 | transcript | ENST00000359626.10 | protein_coding | 10/15 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2297): Show |
intron_variant | MODIFIER | HG02071.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0175 | 1 | 298 | 0.0034 | 2304 | c.955 others(2321): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CCDC6_chr10_59783747_59911556 | 59882003 | T | TGGGGGGA others(2297): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0068 | 1 | 288 | 0.0035 | 2304 | c.303 others(2323): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2297): Show |
downstream_gene_variant | MODIFIER | NA18961.hp2 | a0001 | a0001c0001 | a0001c0001t0009 | a0001c0001t0009g0007 | 1 | 371 | 0.0027 | 2304 | c.*92 others(2315): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
CHST6_chr16_75467052_75500441 | 75469417 | C | CAAAAAAA others(2297): Show |
downstream_gene_variant | MODIFIER | NA18992.hp2 NA19067.hp2 |
a0001a0007 | a0001c0001a0007c0012 | a0001c0001t0001a0007c0012t0003 | a0001c0001t0001g0078a0007c0012t0003g0101 | 2 | 371 | 0.0054 | 2304 | c.*92 others(2315): Show |
CHST6 | ENSG00000183196.10 | transcript | ENST00000332272.9 | protein_coding | 2634 | chr16 | TogoVar | ||||||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | HG00609.hp2 | a0126 | a0126c0081 | a0126c0081t0001 | a0126c0081t0001g0202 | 1 | 249 | 0.0040 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | NA18990.hp1 | a0125 | a0125c0082 | a0125c0082t0001 | a0125c0082t0001g0200 | 1 | 249 | 0.0040 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | HG00639.hp2 HG03239.hp2 |
a0139a0182 | a0139c0095a0182c0042 | a0139c0095t0001a0182c0042t0001 | a0139c0095t0001g0080a0182c0042t0001g0143 | 2 | 249 | 0.0080 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | HG02056.hp1 | a0158 | a0158c0084 | a0158c0084t0001 | a0158c0084t0001g0136 | 1 | 249 | 0.0040 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | HG00140.hp2 HG00323.hp2 HG00423.hp1 others(40): Show |
a0002a0005a0008others(23): Show | a0002c0002a0002c0098a0002c0099others(29): Show | a0002c0002t0001a0002c0098t0001a0002c0099t0001others(29): Show | a0002c0002t0001g0002a0002c0002t0001g0120a0002c0002t0001g0128others(39): Show | 43 | 249 | 0.1727 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | NA18946.hp1 NA18985.hp1 |
a0135a0136 | a0135c0103a0136c0113 | a0135c0103t0001a0136c0113t0011 | a0135c0103t0001g0111a0136c0113t0011g0088 | 2 | 249 | 0.0080 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | HG01192.hp1 | a0157 | a0157c0107 | a0157c0107t0001 | a0157c0107t0001g0145 | 1 | 249 | 0.0040 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | HG02083.hp2 | a0098 | a0098c0027 | a0098c0027t0001 | a0098c0027t0001g0199 | 1 | 249 | 0.0040 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | NA19081.hp2 | a0142 | a0142c0074 | a0142c0074t0001 | a0142c0074t0001g0096 | 1 | 249 | 0.0040 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | HG03239.hp1 | a0020 | a0020c0067 | a0020c0067t0001 | a0020c0067t0001g0090 | 1 | 249 | 0.0040 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | NA18980.hp2 | a0159 | a0159c0077 | a0159c0077t0001 | a0159c0077t0001g0098 | 1 | 249 | 0.0040 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGGTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | HG00438.hp1 HG00558.hp2 HG00609.hp1 others(33): Show |
a0004a0008a0017others(26): Show | a0004c0004a0004c0017a0008c0115others(27): Show | a0004c0004t0001a0004c0017t0001a0008c0115t0001others(27): Show | a0004c0004t0001g0075a0004c0004t0001g0093a0004c0004t0001g0094others(33): Show | 36 | 249 | 0.1446 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787679 | T | TGTTGACA others(2297): Show |
conservative_inframe_insertion | MODERATE | HG02132.hp1 HG02155.hp1 |
a0008a0143 | a0008c0086a0143c0090 | a0008c0086t0001a0143c0090t0001 | a0008c0086t0001g0163a0143c0090t0001g0164 | 2 | 249 | 0.0080 | 2304 | c.390 others(2313): Show |
p.Thr others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 4012/16756 | 3900/16239 | 1300/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2297): Show |
conservative_inframe_insertion | MODERATE | HG02015.hp1 HG02145.hp1 NA18950.hp2 others(1): Show |
a0024a0161a0162 | a0024c0012a0161c0066a0162c0065 | a0024c0012t0001a0161c0066t0001a0162c0065t0001 | a0024c0012t0001g0114a0024c0012t0001g0156a0161c0066t0001g0153others(1): Show | 4 | 249 | 0.0161 | 2304 | c.381 others(2313): Show |
p.Ser others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | ||
MUC4_chr3_195741771_195816929 | 195787762 | A | ACTGAGGA others(2297): Show |
conservative_inframe_insertion | MODERATE | HG02132.hp2 | a0166 | a0166c0109 | a0166c0109t0001 | a0166c0109t0001g0174 | 1 | 249 | 0.0040 | 2304 | c.381 others(2313): Show |
p.Ser others(2319): Show |
MUC4 | ENSG00000145113.22 | transcript | ENST00000463781.8 | protein_coding | 2/25 | 3929/16756 | 3817/16239 | 1273/5412 | chr3 | TogoVar | ||
PKD1_chr16_2083708_2140898 | 2104921 | A | AGGGGGGA others(2297): Show |
intron_variant | MODIFIER | HG01243.hp2 | a0014 | a0014c0017 | a0014c0017t0002 | a0014c0017t0002g0189 | 1 | 216 | 0.0046 | 2304 | c.801 others(2321): Show |
PKD1 | ENSG00000008710.20 | transcript | ENST00000262304.9 | protein_coding | 21/45 | chr16 | TogoVar |