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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2627): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0053a0001c0001t0005g0052 | 2 | 301 | 0.0066 | 2634 | c.-11 others(2645): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2627): Show |
upstream_gene_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0049 | 1 | 301 | 0.0033 | 2634 | c.-11 others(2645): Show |
KCNJ1 | ENSG00000151704.16 | transcript | ENST00000392666.6 | protein_coding | 786 | chr11 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2627): Show |
intron_variant | MODIFIER | NA18948.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0042 | 1 | 294 | 0.0034 | 2634 | c.153 others(2653): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LRPAP1_chr4_3498612_3537422 | 3511085 | T | TAAAAATA others(2627): Show |
3_prime_UTR_variant | MODIFIER | NA18747.hp2 | a0001 | a0001c0001 | a0001c0001t0148 | a0001c0001t0148g0197 | 1 | 420 | 0.0024 | 2634 | c.*18 others(2645): Show |
LRPAP1 | ENSG00000163956.13 | transcript | ENST00000650182.1 | protein_coding | 8/8 | 1888 | chr4 | TogoVar | |||||
SAR1B_chr5_134596149_134637828 | 134619330 | C | CAAAAAAA others(2627): Show |
intron_variant | MODIFIER | NA19060.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0172 | 1 | 322 | 0.0031 | 2634 | c.178 others(2651): Show |
SAR1B | ENSG00000152700.14 | transcript | ENST00000402673.7 | protein_coding | 3/6 | chr5 | TogoVar | ||||||
SPECC1_chr17_20004359_20324026 | 20038315 | A | AACTTTTT others(2627): Show |
intron_variant | MODIFIER | HG01981.hp2 | a0003 | a0003c0004 | a0003c0004t0034 | a0003c0004t0034g0094 | 1 | 250 | 0.0040 | 2634 | c.-22 others(2653): Show |
SPECC1 | ENSG00000128487.19 | transcript | ENST00000395527.9 | protein_coding | 1/14 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
ACAA2_chr18_49777164_49818533 | 49810930 | T | TAACAAAT others(2628): Show |
intron_variant | MODIFIER | HG01261.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0304 | 1 | 434 | 0.0023 | 2635 | c.16+ others(2650): Show |
ACAA2 | ENSG00000167315.18 | transcript | ENST00000285093.15 | protein_coding | 1/9 | chr18 | TogoVar | ||||||
AHRR_chr5_316714_443285 | 344505 | T | TGTGTGTG others(2628): Show |
intron_variant | MODIFIER | HG03041.hp1 | a0001 | a0001c0001 | a0001c0001t0032 | a0001c0001t0032g0227 | 1 | 268 | 0.0037 | 2635 | c.62+ others(2648): Show |
AHRR | ENSG00000063438.20 | transcript | ENST00000684583.1 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
ARHGEF16_chr1_3449665_3486113 | 3477303 | G | GTCACCCC others(2628): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0005 | a0001c0005t0001 | a0001c0005t0001g0026 | 1 | 334 | 0.0030 | 2635 | c.147 others(2652): Show |
ARHGEF16 | ENSG00000130762.15 | transcript | ENST00000378378.9 | protein_coding | 10/14 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(2628): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0173 | 1 | 214 | 0.0047 | 2635 | c.565 others(2652): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2628): Show |
downstream_gene_variant | MODIFIER | HG02630.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0018 | 1 | 388 | 0.0026 | 2635 | c.*31 others(2646): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2628): Show |
downstream_gene_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0018 | 1 | 388 | 0.0026 | 2635 | c.*31 others(2646): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2628): Show |
downstream_gene_variant | MODIFIER | NA19043.hp2 | a0002 | a0002c0002 | a0002c0002t0010 | a0002c0002t0010g0041 | 1 | 388 | 0.0026 | 2635 | c.*31 others(2646): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2628): Show |
downstream_gene_variant | MODIFIER | HG01099.hp1 HG01256.hp1 HG02486.hp2 others(7): Show |
a0002 | a0002c0002 | a0002c0002t0005a0002c0002t0025 | a0002c0002t0005g0014a0002c0002t0005g0172a0002c0002t0005g0173others(6): Show | 10 | 388 | 0.0258 | 2635 | c.*31 others(2646): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2628): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0182 | 1 | 388 | 0.0026 | 2635 | c.*31 others(2646): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2628): Show |
downstream_gene_variant | MODIFIER | HG02280.hp1 HG02922.hp2 |
a0002 | a0002c0002 | a0002c0002t0017 | a0002c0002t0017g0019 | 2 | 388 | 0.0052 | 2635 | c.*31 others(2646): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2628): Show |
downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00639.hp1 others(41): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0005a0002c0002t0003a0002c0002t0005others(5): Show | a0001c0001t0005g0274a0002c0002t0003g0004a0002c0002t0003g0015others(33): Show | 44 | 388 | 0.1134 | 2635 | c.*31 others(2646): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2628): Show |
downstream_gene_variant | MODIFIER | HG01109.hp1 HG02145.hp2 HG03209.hp2 |
a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0045a0003c0004t0006g0046a0003c0004t0006g0048 | 3 | 388 | 0.0077 | 2635 | c.*31 others(2646): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2628): Show |
downstream_gene_variant | MODIFIER | NA19059.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 388 | 0.0026 | 2635 | c.*31 others(2646): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2628): Show |
intron_variant | MODIFIER | NA19068.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 | 1 | 294 | 0.0034 | 2635 | c.153 others(2654): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859735 | A | ATGGGTGT others(2628): Show |
intron_variant | MODIFIER | HG02698.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0062 | 1 | 294 | 0.0034 | 2635 | c.153 others(2654): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859735 | A | ATGGGTGT others(2628): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0064 | 1 | 294 | 0.0034 | 2635 | c.153 others(2654): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
AKAP3_chr12_4610518_4654051 | 4633739 | T | TCAGTAGT others(2629): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0217 | 1 | 418 | 0.0024 | 2636 | c.96+ others(2651): Show |
AKAP3 | ENSG00000111254.8 | transcript | ENST00000228850.6 | protein_coding | 4/5 | chr12 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2629): Show |
downstream_gene_variant | MODIFIER | HG02738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 388 | 0.0026 | 2636 | c.*31 others(2647): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2629): Show |
downstream_gene_variant | MODIFIER | HG01255.hp1 | a0002 | a0002c0002 | a0002c0002t0023 | a0002c0002t0023g0180 | 1 | 388 | 0.0026 | 2636 | c.*31 others(2647): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2629): Show |
downstream_gene_variant | MODIFIER | HG02040.hp2 HG02486.hp1 NA19007.hp2 others(1): Show |
a0001a0005 | a0001c0001a0005c0010 | a0001c0001t0001a0005c0010t0010 | a0001c0001t0001g0030a0001c0001t0001g0054a0005c0010t0010g0042 | 4 | 388 | 0.0103 | 2636 | c.*31 others(2647): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2629): Show |
downstream_gene_variant | MODIFIER | NA19030.hp1 | a0003 | a0003c0004 | a0003c0004t0006 | a0003c0004t0006g0047 | 1 | 388 | 0.0026 | 2636 | c.*31 others(2647): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2629): Show |
downstream_gene_variant | MODIFIER | HG01515.hp2 HG02300.hp1 HG02735.hp1 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0005 | a0002c0002t0003g0187a0002c0002t0003g0197a0002c0002t0005g0211 | 3 | 388 | 0.0077 | 2636 | c.*31 others(2647): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2629): Show |
downstream_gene_variant | MODIFIER | HG02896.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0102 | 1 | 388 | 0.0026 | 2636 | c.*31 others(2647): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | ||||||
DEAF1_chr11_639233_700222 | 642854 | A | ACAGGCGG others(2629): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0253 | 1 | 345 | 0.0029 | 2636 | c.*16 others(2647): Show |
DEAF1 | ENSG00000177030.19 | transcript | ENST00000382409.4 | protein_coding | 1378 | chr11 | TogoVar | ||||||
DRD4_chr11_632269_645706 | 642854 | A | ACAGGCGG others(2629): Show |
downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0042 | 1 | 421 | 0.0024 | 2636 | c.*22 others(2647): Show |
DRD4 | ENSG00000069696.7 | transcript | ENST00000176183.6 | protein_coding | 2149 | chr11 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 859712 | C | CGGGTGTG others(2629): Show |
intron_variant | MODIFIER | NA18995.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 294 | 0.0034 | 2636 | c.153 others(2655): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 10/10 | chr16 | TogoVar | ||||||
PLCXD1_chrX_276381_308356 | 298646 | C | CCACATGG others(2629): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0003 | a0001c0003t0051 | a0001c0003t0051g0071 | 1 | 176 | 0.0057 | 2636 | c.734 others(2651): Show |
PLCXD1 | ENSG00000182378.15 | transcript | ENST00000381657.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
ABR_chr17_998519_1184981 | 1118972 | C | CCCAGCAT others(2630): Show |
intron_variant | MODIFIER | NA18947.hp2 NA18967.hp2 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0010 | a0001c0001t0004g0319a0001c0001t0010g0321 | 2 | 337 | 0.0059 | 2637 | c.246 others(2654): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 2/22 | chr17 | TogoVar | ||||||
ARFRP1_chr20_63693647_63712976 | 63693666 | A | ACCACCTC others(2630): Show |
downstream_gene_variant | MODIFIER | HG06807.hp1 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0014 | 1 | 296 | 0.0034 | 2637 | c.*67 others(2648): Show |
ARFRP1 | ENSG00000101246.20 | transcript | ENST00000622789.5 | protein_coding | 4980 | chr20 | TogoVar | ||||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2630): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0177 | 1 | 298 | 0.0034 | 2637 | c.955 others(2654): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
ATP9B_chr18_79064394_79383283 | 79200703 | T | TGTCAGAG others(2630): Show |
intron_variant | MODIFIER | NA18982.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0055 | 1 | 298 | 0.0034 | 2637 | c.955 others(2654): Show |
ATP9B | ENSG00000166377.21 | transcript | ENST00000426216.6 | protein_coding | 9/29 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(2630): Show |
intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0084 | a0001c0001t0084g0119 | 1 | 214 | 0.0047 | 2637 | c.565 others(2654): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(2630): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0113 | 1 | 214 | 0.0047 | 2637 | c.565 others(2654): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
CAMK1D_chr10_12344547_12840545 | 12776122 | A | AGACTGTG others(2630): Show |
intron_variant | MODIFIER | HG02055.hp2 | a0001 | a0001c0002 | a0001c0002t0008 | a0001c0002t0008g0205 | 1 | 214 | 0.0047 | 2637 | c.565 others(2654): Show |
CAMK1D | ENSG00000183049.14 | transcript | ENST00000619168.5 | protein_coding | 5/10 | chr10 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2630): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp1 others(107): Show |
a0001a0007 | a0001c0001a0007c0007 | a0001c0001t0001a0001c0001t0008a0001c0001t0014others(4): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0007others(80): Show | 110 | 388 | 0.2835 | 2637 | c.*31 others(2648): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2630): Show |
downstream_gene_variant | MODIFIER | HG00741.hp1 HG01516.hp1 HG01981.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0009a0002c0002t0019 | a0002c0002t0009g0091a0002c0002t0009g0095a0002c0002t0009g0096others(3): Show | 6 | 388 | 0.0155 | 2637 | c.*31 others(2648): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2630): Show |
downstream_gene_variant | MODIFIER | HG02559.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0049 | 1 | 388 | 0.0026 | 2637 | c.*31 others(2648): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2630): Show |
downstream_gene_variant | MODIFIER | NA20129.hp1 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0050 | 1 | 388 | 0.0026 | 2637 | c.*31 others(2648): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2630): Show |
downstream_gene_variant | MODIFIER | HG02622.hp1 HG02886.hp2 HG02922.hp1 others(1): Show |
a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0060a0002c0002t0006g0100a0002c0002t0006g0101others(1): Show | 4 | 388 | 0.0103 | 2637 | c.*31 others(2648): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2630): Show |
downstream_gene_variant | MODIFIER | NA19030.hp2 | a0002 | a0002c0002 | a0002c0002t0006 | a0002c0002t0006g0208 | 1 | 388 | 0.0026 | 2637 | c.*31 others(2648): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2630): Show |
downstream_gene_variant | MODIFIER | NA18954.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 388 | 0.0026 | 2637 | c.*31 others(2648): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | ||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2630): Show |
downstream_gene_variant | MODIFIER | HG01884.hp2 | a0002 | a0002c0002 | a0002c0002t0012 | a0002c0002t0012g0094 | 1 | 388 | 0.0026 | 2637 | c.*31 others(2648): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725575 | C | CGAGCAGA others(2630): Show |
intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0300 | 1 | 324 | 0.0031 | 2637 | c.340 others(2654): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
DNAH10_chr12_123757301_123940714 | 123911549 | G | GGGGGTCT others(2630): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0049 | a0049c0053 | a0049c0053t0002 | a0049c0053t0002g0054 | 1 | 170 | 0.0059 | 2637 | c.101 others(2656): Show |
DNAH10 | ENSG00000197653.16 | transcript | ENST00000673944.1 | protein_coding | 59/78 | INFO_REALIGN_3_PRIME | chr12 | TogoVar |