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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
RAF1_chr3_12578601_12669117 | 12654718 | T | TGAAAGAA others(2626): Show |
intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0224 | 1 | 159 | 0.0063 | 2633 | c.-27 others(2650): Show |
RAF1 | ENSG00000132155.14 | transcript | ENST00000251849.9 | protein_coding | 1/16 | chr3 | TogoVar | |||||||
RTF2_chr20_56463627_56524449 | 56488290 | G | GGTGGAAG others(2626): Show |
intron_variant | MODIFIER | HG01175.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0166 | 1 | 386 | 0.0026 | 2633 | c.477 others(2650): Show |
RTF2 | ENSG00000022277.13 | transcript | ENST00000357348.10 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | ||||||
TNKS_chr8_9550912_9787346 | 9771917 | A | AGAGTGGA others(2626): Show |
intron_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0175 | 1 | 19 | 0.0526 | 2633 | c.389 others(2652): Show |
TNKS | ENSG00000173273.17 | transcript | ENST00000310430.11 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
ZNF229_chr19_44421254_44453472 | 44449685 | T | TGAAAGGT others(2626): Show |
upstream_gene_variant | MODIFIER | HG02074.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0025 | 1 | 404 | 0.0025 | 2633 | c.-16 others(2644): Show |
ZNF229 | ENSG00000278318.5 | transcript | ENST00000614049.5 | protein_coding | 1214 | chr19 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1129323 | C | CATCTCGG others(2627): Show |
intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 286 | 0.0035 | 2634 | c.-1- others(2649): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2627): Show |
downstream_gene_variant | MODIFIER | HG02723.hp2 | a0002 | a0002c0002 | a0002c0002t0005 | a0002c0002t0005g0063 | 1 | 123 | 0.0081 | 2634 | c.*31 others(2645): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | |||||||
CEP44_chr4_174278911_174325328 | 174320514 | A | AAGGATAT others(2627): Show |
downstream_gene_variant | MODIFIER | HG00544.hp2 HG03041.hp1 |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0005 | a0002c0002t0003g0189 a0002c0002t0005g0160 |
2 | 124 | 0.0161 | 2634 | c.*31 others(2645): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar | |||||||
CPSF2_chr14_92116969_92177145 | 92153061 | T | TCAAATTT others(2627): Show |
intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0062 | a0001c0001t0062g0120 | 1 | 241 | 0.0041 | 2634 | c.114 others(2653): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 9/15 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
DCLK1_chr13_35763652_36136382 | 35958124 | T | TATAACCA others(2627): Show |
intron_variant | MODIFIER | NA19007.hp2 | a0001 | a0001c0004 | a0001c0004t0008 | a0001c0004t0008g0224 | 1 | 207 | 0.0048 | 2634 | c.724 others(2653): Show |
DCLK1 | ENSG00000133083.15 | transcript | ENST00000360631.8 | protein_coding | 3/16 | chr13 | TogoVar | |||||||
KCNJ1_chr11_128833020_128872296 | 128868081 | A | AATATAAT others(2627): Show |
upstream_gene_variant | MODIFIER | HG02257.hp2 HG02965.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0053 a0001c0001t0005g0052 |
2 | 250 | 0.0080 | 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 | 249 | 0.0040 | 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 | a0001c0002t0001g0041 | 1 | 71 | 0.0141 | 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 | a0001c0001t0127 | a0001c0001t0127g0190 | 1 | 418 | 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 | a0001c0001t0003g0098 | 1 | 266 | 0.0038 | 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 | a0003c0004t0021 | a0003c0004t0021g0094 | 1 | 211 | 0.0047 | 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 | a0001c0001t0005g0305 | 1 | 264 | 0.0038 | 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 | a0001c0001t0032g0226 | 1 | 195 | 0.0051 | 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 | 50 | 0.0200 | 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 | a0001c0001t0001g0172 | 1 | 9 | 0.1111 | 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 | a0002c0002t0010g0020 | 1 | 123 | 0.0081 | 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 | a0002c0002t0010g0020 | 1 | 123 | 0.0081 | 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 | a0002c0002t0010g0043 | 1 | 123 | 0.0081 | 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 | a0002c0002t0005g0017 a0002c0002t0005g0162 a0002c0002t0005g0165 others(6): Show |
10 | 132 | 0.0758 | 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 | a0002c0002t0003g0173 | 1 | 123 | 0.0081 | 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 | a0002c0002t0017g0021 | 2 | 124 | 0.0161 | 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 | a0001c0001t0005g0268 a0002c0002t0003g0004 a0002c0002t0003g0018 others(31): Show |
44 | 166 | 0.2651 | 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 | a0003c0004t0006g0047 a0003c0004t0006g0049 a0003c0004t0006g0050 |
3 | 125 | 0.0240 | 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 | a0001c0001t0001g0093 | 1 | 123 | 0.0081 | 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 | a0001c0002t0001g0040 | 1 | 71 | 0.0141 | 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 | a0001c0002t0001g0051 | 1 | 199 | 0.0050 | 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 | a0001c0002t0001g0053 | 1 | 199 | 0.0050 | 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 | a0002c0003t0001g0211 | 1 | 288 | 0.0035 | 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 | a0001c0001t0001g0123 | 1 | 123 | 0.0081 | 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 | a0002c0002t0023g0171 | 1 | 123 | 0.0081 | 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 |
a0001a0004 | a0001c0001a0004c0010 | a0001c0001t0001a0004c0010t0010 | a0001c0001t0001g0033 a0001c0001t0001g0056 a0004c0010t0010g0044 |
4 | 126 | 0.0317 | 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 | a0003c0004t0006g0048 | 1 | 123 | 0.0081 | 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 | a0002c0002t0003g0179 a0002c0002t0003g0188 a0002c0002t0005g0200 |
3 | 125 | 0.0240 | 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 | a0002c0002t0006g0101 | 1 | 123 | 0.0081 | 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 | a0001c0001t0001g0257 | 1 | 7 | 0.1429 | 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 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 | 1 | 7 | 0.1429 | 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 | 71 | 0.0141 | 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 | a0001c0003t0051g0076 | 1 | 152 | 0.0066 | 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 | a0001c0001t0004g0320 a0001c0001t0010g0322 |
2 | 280 | 0.0071 | 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 | 265 | 0.0038 | 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 | a0002c0002t0009g0250 | 1 | 76 | 0.0132 | 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 | 76 | 0.0132 | 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 | 9 | 0.1111 | 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 | 9 | 0.1111 | 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 | 9 | 0.1111 | 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 |
a0001a0005 | a0001c0001a0005c0007 | a0001c0001t0001a0001c0001t0008a0001c0001t0014others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0008 others(73): Show |
110 | 232 | 0.4741 | 2637 | c.*31 others(2648): Show |
CEP44 | ENSG00000164118.13 | transcript | ENST00000503780.6 | protein_coding | 187 | chr4 | TogoVar |