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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ATRNL1_chr10_115088365_115953999 | 115776593 | G | GTAATATT others(103): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03453.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0007a0001c0006t0013 | a0001c0001t0007g0027a0001c0006t0013g0029 | 2 | 128 | 0.0156 | 110 | c.390 others(131): Show |
ATRNL1 | ENSG00000107518.18 | transcript | ENST00000355044.8 | protein_coding | 27/28 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
AXIN1_chr16_282440_357723 | 285937 | C | CCCCAACA others(103): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0296 | 1 | 378 | 0.0027 | 110 | c.*21 others(121): Show |
AXIN1 | ENSG00000103126.15 | transcript | ENST00000262320.8 | protein_coding | 1502 | chr16 | TogoVar | ||||||
B4GALNT4_chr11_364499_387117 | 375001 | G | GAGGGAGG others(103): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0004 | a0002c0004t0002 | a0002c0004t0002g0129 | 1 | 184 | 0.0054 | 110 | c.784 others(125): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113236288 | A | ATATATAT others(103): Show |
intron_variant | MODIFIER | HG00741.hp2 HG01981.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0009 | a0001c0001t0001g0050a0001c0001t0009g0259 | 2 | 386 | 0.0052 | 110 | c.-81 others(129): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BOC_chr3_113206557_113292459 | 113236288 | A | ATATATAT others(103): Show |
intron_variant | MODIFIER | NA18961.hp2 | a0011 | a0011c0026 | a0011c0026t0015 | a0011c0026t0015g0375 | 1 | 386 | 0.0026 | 110 | c.-81 others(129): Show |
BOC | ENSG00000144857.15 | transcript | ENST00000682979.1 | protein_coding | 2/19 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
BRD1_chr22_49768283_49832873 | 49775819 | C | CCCCCCGC others(103): Show |
intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 258 | 0.0039 | 110 | c.323 others(125): Show |
BRD1 | ENSG00000100425.19 | transcript | ENST00000404760.6 | protein_coding | 11/12 | chr22 | TogoVar | ||||||
BRIX1_chr5_34910711_34930996 | 34921965 | T | TTTTTTTT others(103): Show |
intron_variant | MODIFIER | NA19086.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0140 | 1 | 440 | 0.0023 | 110 | c.316 others(125): Show |
BRIX1 | ENSG00000113460.13 | transcript | ENST00000336767.6 | protein_coding | 3/9 | chr5 | TogoVar | ||||||
BRSK1_chr19_55278997_55317562 | 55285146 | C | CCTGGGGG others(103): Show |
intron_variant | MODIFIER | HG03041.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0082a0001c0001t0003g0081 | 2 | 338 | 0.0059 | 110 | c.136 others(125): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BRSK1_chr19_55278997_55317562 | 55286041 | G | GGGGGTCT others(103): Show |
intron_variant | MODIFIER | HG01361.hp2 HG01975.hp1 HG02148.hp1 others(1): Show |
a0001 | a0001c0001a0001c0014 | a0001c0001t0001a0001c0001t0003a0001c0014t0001 | a0001c0001t0001g0013a0001c0001t0001g0104a0001c0001t0003g0105others(1): Show | 4 | 338 | 0.0118 | 110 | c.137 others(125): Show |
BRSK1 | ENSG00000160469.17 | transcript | ENST00000309383.6 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
BSG_chr19_567596_588493 | 570591 | A | AGGGGCGG others(103): Show |
upstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(195): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0002a0001c0003others(15): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(30): Show | a0001c0001t0001g0096a0001c0001t0002g0002a0001c0001t0002g0004others(116): Show | 198 | 306 | 0.6471 | 110 | c.-20 others(121): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 2004 | chr19 | TogoVar | ||||||
BSG_chr19_567596_588493 | 570591 | A | AGGGGCGG others(103): Show |
upstream_gene_variant | MODIFIER | HG00673.hp2 | a0001 | a0001c0003 | a0001c0003t0009 | a0001c0003t0009g0003 | 1 | 306 | 0.0033 | 110 | c.-20 others(121): Show |
BSG | ENSG00000172270.22 | transcript | ENST00000333511.9 | protein_coding | 2004 | chr19 | TogoVar | ||||||
BTN1A1_chr6_26495303_26515425 | 26514199 | T | TTATATAT others(103): Show |
downstream_gene_variant | MODIFIER | HG03209.hp2 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 2 | 414 | 0.0048 | 110 | c.*50 others(121): Show |
BTN1A1 | ENSG00000124557.14 | transcript | ENST00000684113.1 | protein_coding | 3775 | chr6 | TogoVar | ||||||
BTN1A1_chr6_26495303_26515425 | 26514199 | T | TTATATAT others(103): Show |
downstream_gene_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0005 | 1 | 414 | 0.0024 | 110 | c.*50 others(121): Show |
BTN1A1 | ENSG00000124557.14 | transcript | ENST00000684113.1 | protein_coding | 3775 | chr6 | TogoVar | ||||||
C10orf90_chr10_126419997_126675693 | 126565175 | T | TTATGTAA others(103): Show |
intron_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 218 | 0.0046 | 110 | c.314 others(129): Show |
C10orf90 | ENSG00000154493.20 | transcript | ENST00000488181.3 | protein_coding | 2/9 | chr10 | TogoVar | ||||||
C12orf40_chr12_39621183_39726914 | 39712162 | G | GTACATGT others(103): Show |
intron_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0052 | 1 | 360 | 0.0028 | 110 | c.141 others(129): Show |
C12orf40 | ENSG00000180116.15 | transcript | ENST00000324616.9 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
C12orf56_chr12_64259762_64395758 | 64366339 | T | TTATATAT others(103): Show |
intron_variant | MODIFIER | HG02129.hp2 HG02615.hp1 HG02809.hp1 others(9): Show |
a0001a0004 | a0001c0001a0001c0003a0004c0006 | a0001c0001t0002a0001c0001t0004a0001c0003t0001others(1): Show | a0001c0001t0002g0142a0001c0001t0002g0233a0001c0001t0002g0246others(9): Show | 12 | 312 | 0.0385 | 110 | c.253 others(129): Show |
C12orf56 | ENSG00000185306.13 | transcript | ENST00000543942.7 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
C12orf56_chr12_64259762_64395758 | 64366859 | T | TTATATAT others(103): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0161 | 1 | 312 | 0.0032 | 110 | c.253 others(129): Show |
C12orf56 | ENSG00000185306.13 | transcript | ENST00000543942.7 | protein_coding | 1/12 | chr12 | TogoVar | ||||||
C1orf21_chr1_184382029_184634019 | 184410630 | T | TAATATAT others(103): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0046 | 1 | 232 | 0.0043 | 110 | c.-12 others(131): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C22orf42_chr22_32144006_32164303 | 32145686 | A | ATATTATA others(103): Show |
downstream_gene_variant | MODIFIER | HG01192.hp1 HG02040.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0004a0002c0002t0002g0039 | 2 | 398 | 0.0050 | 110 | c.*38 others(121): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 3319 | chr22 | TogoVar | ||||||
CACNA1H_chr16_1148106_1226768 | 1185865 | G | GGTCGGCA others(103): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02622.hp2 HG02809.hp2 others(1): Show |
a0002 | a0002c0008a0002c0011 | a0002c0008t0001a0002c0008t0002a0002c0011t0002 | a0002c0008t0001g0316a0002c0008t0002g0233a0002c0011t0002g0201others(1): Show | 4 | 338 | 0.0118 | 110 | c.300 others(127): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CACNG6_chr19_53986637_54017666 | 53990651 | C | CCCTCCTC others(103): Show |
upstream_gene_variant | MODIFIER | HG01255.hp2 HG01884.hp2 HG02109.hp1 others(10): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0001t0012a0001c0001t0013others(4): Show | a0001c0001t0003g0239a0001c0001t0003g0240a0001c0001t0003g0242others(10): Show | 13 | 430 | 0.0302 | 110 | c.-22 others(121): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 985 | chr19 | TogoVar | ||||||
CACNG8_chr19_53957937_53995215 | 53990651 | C | CCCTCCTC others(103): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 HG01884.hp2 HG02109.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0013a0001c0001t0039a0001c0001t0040others(4): Show | a0001c0001t0013g0025a0001c0001t0013g0167a0001c0001t0013g0168others(8): Show | 13 | 394 | 0.0330 | 110 | c.*78 others(121): Show |
CACNG8 | ENSG00000142408.7 | transcript | ENST00000270458.4 | protein_coding | 437 | chr19 | TogoVar | ||||||
CADM2_chr3_84953989_86079429 | 85212812 | C | CTCTTTCT others(103): Show |
intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0019 | a0001c0001t0019g0130 | 1 | 146 | 0.0069 | 110 | c.61+ others(129): Show |
CADM2 | ENSG00000175161.14 | transcript | ENST00000383699.8 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CAMKK2_chr12_121232692_121301709 | 121255235 | T | TATATATA others(103): Show |
intron_variant | MODIFIER | NA19079.hp2 | a0004 | a0004c0010 | a0004c0010t0001 | a0004c0010t0001g0286 | 1 | 330 | 0.0030 | 110 | c.907 others(125): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | ||||||
CAMKK2_chr12_121232692_121301709 | 121255235 | T | TATATATA others(103): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01358.hp1 HG02132.hp2 others(3): Show |
a0003a0004 | a0003c0003a0004c0010 | a0003c0003t0001a0004c0010t0001 | a0003c0003t0001g0163a0003c0003t0001g0194a0003c0003t0001g0230others(3): Show | 6 | 330 | 0.0182 | 110 | c.907 others(125): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | ||||||
CAMKK2_chr12_121232692_121301709 | 121255344 | A | ATATATAT others(103): Show |
intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0011 | a0001c0011t0006 | a0001c0011t0006g0015 | 1 | 330 | 0.0030 | 110 | c.907 others(125): Show |
CAMKK2 | ENSG00000110931.19 | transcript | ENST00000404169.8 | protein_coding | 9/16 | chr12 | TogoVar | ||||||
CAMSAP2_chr1_200733893_200865704 | 200816810 | A | ATGTGTGT others(103): Show |
intron_variant | MODIFIER | HG01123.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0363 | 1 | 366 | 0.0027 | 110 | c.645 others(127): Show |
CAMSAP2 | ENSG00000118200.15 | transcript | ENST00000358823.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAPN12_chr19_38725192_38749474 | 38735877 | C | CGGGGCGG others(103): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0157 | 1 | 342 | 0.0029 | 110 | c.158 others(127): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735887 | C | CGGGGCGG others(103): Show |
intron_variant | MODIFIER | NA18941.hp1 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0305 | 1 | 342 | 0.0029 | 110 | c.158 others(127): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735942 | C | CGGGGCGG others(103): Show |
intron_variant | MODIFIER | NA19012.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0285 | 1 | 342 | 0.0029 | 110 | c.158 others(127): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN12_chr19_38725192_38749474 | 38735972 | C | CGGTGGTT others(103): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0073 | 1 | 342 | 0.0029 | 110 | c.158 others(127): Show |
CAPN12 | ENSG00000182472.9 | transcript | ENST00000328867.9 | protein_coding | 12/20 | chr19 | TogoVar | ||||||
CAPN15_chr16_522712_559636 | 544861 | A | ACGTCGTC others(103): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 410 | 0.0024 | 110 | c.-22 others(127): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CAPN15_chr16_522712_559636 | 544867 | C | CCTCCCCC others(103): Show |
intron_variant | MODIFIER | NA20300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0362 | 1 | 410 | 0.0024 | 110 | c.-22 others(127): Show |
CAPN15 | ENSG00000103326.12 | transcript | ENST00000219611.7 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CCDC148_chr2_158166073_158461753 | 158433265 | T | TATATATA others(103): Show |
intron_variant | MODIFIER | NA18939.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0252 | 1 | 264 | 0.0038 | 110 | c.25+ others(127): Show |
CCDC148 | ENSG00000153237.19 | transcript | ENST00000283233.10 | protein_coding | 1/13 | chr2 | TogoVar | ||||||
CCDC168_chr13_102724367_102764072 | 102762577 | A | AATTTTAT others(103): Show |
upstream_gene_variant | MODIFIER | HG03540.hp1 | a0079 | a0079c0064 | a0079c0064t0001 | a0079c0064t0001g0100 | 1 | 360 | 0.0028 | 110 | c.-36 others(121): Show |
CCDC168 | ENSG00000175820.4 | transcript | ENST00000322527.4 | protein_coding | 3506 | chr13 | TogoVar | ||||||
CCDC30_chr1_42458286_42662190 | 42535699 | T | TATATATA others(103): Show |
intron_variant | MODIFIER | HG02897.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0084 | 1 | 324 | 0.0031 | 110 | c.457 others(125): Show |
CCDC30 | ENSG00000186409.19 | transcript | ENST00000657597.2 | protein_coding | 6/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CCDC77_chr12_396644_447642 | 415309 | T | TGTTAATA others(103): Show |
intron_variant | MODIFIER | HG03139.hp2 | a0004 | a0004c0004 | a0004c0004t0001 | a0004c0004t0001g0317 | 1 | 432 | 0.0023 | 110 | c.271 others(127): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 4/12 | chr12 | TogoVar | ||||||
CCDC92B_chr17_2715801_2754652 | 2719770 | C | CCCAGAAG others(103): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(291): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0007a0002c0002others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(42): Show | a0001c0001t0001g0162a0001c0001t0002g0114a0001c0001t0002g0137others(289): Show | 294 | 418 | 0.7034 | 110 | c.*46 others(121): Show |
CCDC92B | ENSG00000277200.2 | transcript | ENST00000614400.2 | protein_coding | 1030 | chr17 | TogoVar | ||||||
CCDC92B_chr17_2715801_2754652 | 2719797 | C | CCTGGGTC others(103): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(89): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0006a0001c0001t0007others(21): Show | a0001c0001t0003g0001a0001c0001t0003g0002a0001c0001t0003g0081others(86): Show | 92 | 418 | 0.2201 | 110 | c.*46 others(121): Show |
CCDC92B | ENSG00000277200.2 | transcript | ENST00000614400.2 | protein_coding | 1003 | chr17 | TogoVar | ||||||
CCDC92B_chr17_2715801_2754652 | 2719797 | C | CCTGGGTC others(103): Show |
downstream_gene_variant | MODIFIER | HG01070.hp2 HG01884.hp1 HG02055.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0010a0001c0001t0022 | a0001c0001t0006g0052a0001c0001t0010g0079a0001c0001t0010g0098others(4): Show | 7 | 418 | 0.0168 | 110 | c.*46 others(121): Show |
CCDC92B | ENSG00000277200.2 | transcript | ENST00000614400.2 | protein_coding | 1003 | chr17 | TogoVar | ||||||
CCL17_chr16_57399767_57421063 | 57403116 | T | TTATAATA others(103): Show |
upstream_gene_variant | MODIFIER | HG04199.hp1 HG04228.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 2 | 388 | 0.0052 | 110 | c.-17 others(121): Show |
CCL17 | ENSG00000102970.11 | transcript | ENST00000219244.9 | protein_coding | 1650 | chr16 | TogoVar | ||||||
CCL17_chr16_57399767_57421063 | 57403290 | T | TATATATA others(103): Show |
upstream_gene_variant | MODIFIER | HG02004.hp1 HG03942.hp2 NA18977.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003a0001c0001t0001g0007 | 3 | 388 | 0.0077 | 110 | c.-16 others(121): Show |
CCL17 | ENSG00000102970.11 | transcript | ENST00000219244.9 | protein_coding | 1476 | chr16 | TogoVar | ||||||
CCR3_chr3_46237460_46271706 | 46242982 | C | CACATATA others(103): Show |
intron_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0230 | 1 | 408 | 0.0025 | 110 | c.-12 others(125): Show |
CCR3 | ENSG00000183625.16 | transcript | ENST00000395940.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CD247_chr1_167425640_167523529 | 167435070 | T | TTCCTCCG others(103): Show |
intron_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0271 | 1 | 374 | 0.0027 | 110 | c.336 others(125): Show |
CD247 | ENSG00000198821.12 | transcript | ENST00000362089.10 | protein_coding | 5/7 | chr1 | TogoVar | ||||||
CD247_chr1_167425640_167523529 | 167435218 | T | TTCCTCCG others(103): Show |
intron_variant | MODIFIER | HG03579.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0347 | 1 | 374 | 0.0027 | 110 | c.336 others(125): Show |
CD247 | ENSG00000198821.12 | transcript | ENST00000362089.10 | protein_coding | 5/7 | chr1 | TogoVar | ||||||
CDH2_chr18_27945966_28182130 | 28156400 | A | AATGTCAC others(103): Show |
intron_variant | MODIFIER | HG03942.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0079 | 1 | 268 | 0.0037 | 110 | c.61- others(125): Show |
CDH2 | ENSG00000170558.10 | transcript | ENST00000269141.8 | protein_coding | 1/15 | chr18 | TogoVar | ||||||
CDH2_chr18_27945966_28182130 | 28156444 | C | CATGTCAC others(103): Show |
intron_variant | MODIFIER | HG01515.hp2 HG01517.hp1 HG02698.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0009a0001c0001t0010a0001c0001t0027others(1): Show | a0001c0001t0009g0261a0001c0001t0010g0240a0001c0001t0010g0241others(4): Show | 7 | 268 | 0.0261 | 110 | c.61- others(125): Show |
CDH2 | ENSG00000170558.10 | transcript | ENST00000269141.8 | protein_coding | 1/15 | chr18 | TogoVar | ||||||
CDH2_chr18_27945966_28182130 | 28156708 | C | CATGTCAC others(103): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0001 | a0001c0010 | a0001c0010t0005 | a0001c0010t0005g0074 | 1 | 268 | 0.0037 | 110 | c.61- others(125): Show |
CDH2 | ENSG00000170558.10 | transcript | ENST00000269141.8 | protein_coding | 1/15 | chr18 | TogoVar | ||||||
CDH6_chr5_31188686_31334146 | 31292826 | T | TATATATA others(103): Show |
intron_variant | MODIFIER | NA18956.hp2 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0007 | 1 | 338 | 0.0030 | 110 | c.229 others(127): Show |
CDH6 | ENSG00000113361.13 | transcript | ENST00000265071.3 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
CENPJ_chr13_24877279_24927861 | 24882090 | A | ATAGATAT others(103): Show |
downstream_gene_variant | MODIFIER | HG01106.hp2 HG01928.hp2 HG02027.hp2 others(5): Show |
a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0003a0002c0003t0003g0016a0002c0003t0003g0089others(5): Show | 8 | 440 | 0.0182 | 110 | c.*10 others(121): Show |
CENPJ | ENSG00000151849.16 | transcript | ENST00000381884.9 | protein_coding | 188 | chr13 | TogoVar |