| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PKP3_chr11_389209_409908 | 398401 | G | GTCACCTC others(655): Show |
intron_variant | MODIFIER | HG01975.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0098 | 1 | 216 | 0.0046 | 662 | c.106 others(679): Show |
PKP3 | ENSG00000184363.10 | transcript | ENST00000331563.7 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| PLCB1_chr20_8127266_8889900 | 8662119 | T | TATATATA others(655): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0031 | 1 | 106 | 0.0094 | 662 | c.862 others(679): Show |
PLCB1 | ENSG00000182621.19 | transcript | ENST00000338037.11 | protein_coding | 9/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| PWWP2B_chr10_132392200_132422859 | 132392564 | G | GTGATGAT others(655): Show |
upstream_gene_variant | MODIFIER | HG01099.hp2 | a0004 | a0004c0006 | a0004c0006t0001 | a0004c0006t0001g0063 | 1 | 374 | 0.0027 | 662 | c.-46 others(673): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4635 | chr10 | TogoVar | ||||||
| PWWP2B_chr10_132392200_132422859 | 132392570 | A | ATGGTGAT others(655): Show |
upstream_gene_variant | MODIFIER | HG02630.hp1 NA19043.hp2 |
a0001a0005 | a0001c0001a0005c0012 | a0001c0001t0001a0005c0012t0001 | a0001c0001t0001g0005a0005c0012t0001g0078 | 2 | 374 | 0.0054 | 662 | c.-46 others(673): Show |
PWWP2B | ENSG00000171813.14 | transcript | ENST00000305233.6 | protein_coding | 4629 | chr10 | TogoVar | ||||||
| RAB3C_chr5_58578075_58864394 | 58597430 | C | CACAATAT others(655): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0036 | 1 | 220 | 0.0046 | 662 | c.24+ others(679): Show |
RAB3C | ENSG00000152932.8 | transcript | ENST00000282878.6 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| SCUBE1_chr22_43192280_43348372 | 43339755 | C | CCCCCCAC others(655): Show |
intron_variant | MODIFIER | HG00544.hp2 NA18971.hp2 NA18990.hp1 others(3): Show |
a0001a0002a0003 | a0001c0004a0002c0002a0003c0001 | a0001c0004t0037a0002c0002t0002a0003c0001t0001 | a0001c0004t0037g0249a0002c0002t0002g0250a0003c0001t0001g0243others(3): Show | 6 | 280 | 0.0214 | 662 | c.89- others(675): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
| SCUBE1_chr22_43192280_43348372 | 43339802 | T | TCCCCCCA others(655): Show |
intron_variant | MODIFIER | HG02809.hp2 | a0005 | a0005c0016 | a0005c0016t0002 | a0005c0016t0002g0025 | 1 | 280 | 0.0036 | 662 | c.89- others(675): Show |
SCUBE1 | ENSG00000159307.20 | transcript | ENST00000360835.9 | protein_coding | 1/21 | chr22 | TogoVar | ||||||
| SCUBE2_chr11_9014476_9096599 | 9047059 | A | AGCGTGAT others(655): Show |
intron_variant | MODIFIER | HG02615.hp1 | a0003 | a0003c0003 | a0003c0003t0006 | a0003c0003t0006g0193 | 1 | 358 | 0.0028 | 662 | c.200 others(679): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 16/22 | chr11 | TogoVar | ||||||
| SCUBE2_chr11_9014476_9096599 | 9047059 | A | AGCGTGAT others(655): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0009 | a0009c0015 | a0009c0015t0001 | a0009c0015t0001g0214 | 1 | 358 | 0.0028 | 662 | c.200 others(679): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 16/22 | chr11 | TogoVar | ||||||
| SCUBE2_chr11_9014476_9096599 | 9047059 | A | AGTGTGAT others(655): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01168.hp1 HG03490.hp2 others(1): Show |
a0003a0006 | a0003c0011a0006c0020 | a0003c0011t0001a0006c0020t0001 | a0003c0011t0001g0127a0003c0011t0001g0128a0003c0011t0001g0133others(1): Show | 4 | 358 | 0.0112 | 662 | c.200 others(679): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 16/22 | chr11 | TogoVar | ||||||
| SCUBE2_chr11_9014476_9096599 | 9047059 | A | AGTGTGAT others(655): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00597.hp1 others(49): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0003others(7): Show | a0001c0001t0003a0002c0002t0001a0002c0002t0002others(18): Show | a0001c0001t0003g0302a0002c0002t0001g0005a0002c0002t0001g0019others(49): Show | 52 | 358 | 0.1453 | 662 | c.200 others(679): Show |
SCUBE2 | ENSG00000175356.14 | transcript | ENST00000649792.2 | protein_coding | 16/22 | chr11 | TogoVar | ||||||
| SLC19A1_chr21_45507565_45547440 | 45531209 | G | GGGGGAGC others(655): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0001 | a0001c0001 | a0001c0001t0028 | a0001c0001t0028g0120 | 1 | 318 | 0.0031 | 662 | c.949 others(677): Show |
SLC19A1 | ENSG00000173638.19 | transcript | ENST00000311124.9 | protein_coding | 3/5 | chr21 | TogoVar | ||||||
| SLC25A41_chr19_6421037_6438763 | 6429378 | A | AAGGGAGG others(655): Show |
intron_variant | MODIFIER | NA19083.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0070 | 1 | 350 | 0.0029 | 662 | c.624 others(677): Show |
SLC25A41 | ENSG00000181240.14 | transcript | ENST00000321510.7 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
| SLC35F1_chr6_117902264_118322671 | 117923605 | A | ATACATAT others(655): Show |
intron_variant | MODIFIER | NA19057.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 182 | 0.0055 | 662 | c.173 others(681): Show |
SLC35F1 | ENSG00000196376.11 | transcript | ENST00000360388.9 | protein_coding | 1/7 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SLC44A5_chr1_75197129_75616114 | 75280139 | T | TATATATT others(655): Show |
intron_variant | MODIFIER | HG01261.hp1 HG01952.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0121 | 2 | 156 | 0.0128 | 662 | c.176 others(679): Show |
SLC44A5 | ENSG00000137968.17 | transcript | ENST00000370859.8 | protein_coding | 5/23 | chr1 | TogoVar | ||||||
| SLC6A3_chr5_1387794_1450440 | 1422701 | A | ACTGCCCA others(655): Show |
intron_variant | MODIFIER | NA18747.hp1 NA18941.hp1 NA18960.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0040 | a0001c0001t0001g0003a0001c0001t0001g0051a0001c0001t0001g0080others(6): Show | 10 | 373 | 0.0268 | 662 | c.654 others(677): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 4/14 | chr5 | TogoVar | ||||||
| SLC6A3_chr5_1387794_1450440 | 1422701 | A | ACTGCCCA others(655): Show |
intron_variant | MODIFIER | HG02027.hp2 NA18951.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006 | a0001c0001t0001g0054a0001c0001t0006g0166 | 2 | 373 | 0.0054 | 662 | c.654 others(677): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 4/14 | chr5 | TogoVar | ||||||
| SMIM47_chr19_50780728_50791160 | 50784590 | G | GGGAGGGA others(655): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 HG01169.hp1 HG01517.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 4 | 352 | 0.0114 | 662 | c.*12 others(673): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1137 | chr19 | TogoVar | ||||||
| SMIM47_chr19_50780728_50791160 | 50784590 | G | GGGAGGGA others(655): Show |
downstream_gene_variant | MODIFIER | NA18954.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 662 | c.*12 others(673): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1137 | chr19 | TogoVar | ||||||
| SMIM47_chr19_50780728_50791160 | 50784593 | A | AGGAAGGA others(655): Show |
downstream_gene_variant | MODIFIER | NA18944.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 352 | 0.0028 | 662 | c.*12 others(673): Show |
SMIM47 | ENSG00000261341.7 | transcript | ENST00000562076.2 | protein_coding | 1134 | chr19 | TogoVar | ||||||
| SNTG2_chr2_945849_1372613 | 1221590 | G | GTCTCTGC others(655): Show |
intron_variant | MODIFIER | HG02602.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0172 | 1 | 190 | 0.0053 | 662 | c.719 others(681): Show |
SNTG2 | ENSG00000172554.12 | transcript | ENST00000308624.10 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| SNX9_chr6_157818246_157950077 | 157827544 | T | TTATAGTT others(655): Show |
intron_variant | MODIFIER | NA18975.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0002 | 1 | 302 | 0.0033 | 662 | c.12+ others(677): Show |
SNX9 | ENSG00000130340.17 | transcript | ENST00000392185.8 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| SPAAR_chr9_35904490_35916686 | 35914334 | G | GTGTGTGT others(655): Show |
downstream_gene_variant | MODIFIER | NA19080.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0002 | 1 | 420 | 0.0024 | 662 | c.*36 others(673): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2649 | chr9 | TogoVar | ||||||
| SRXN1_chr20_641615_658200 | 642230 | T | TGGGGGGG others(655): Show |
downstream_gene_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 422 | 0.0024 | 662 | c.*64 others(673): Show |
SRXN1 | ENSG00000271303.2 | transcript | ENST00000381962.4 | protein_coding | 4384 | chr20 | TogoVar | ||||||
| TAF4_chr20_61969798_62070881 | 62058768 | C | CGGGGGCC others(655): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02300.hp1 HG02735.hp1 |
a0001 | a0001c0002 | a0001c0002t0001a0001c0002t0006 | a0001c0002t0001g0229a0001c0002t0001g0291a0001c0002t0006g0255 | 3 | 314 | 0.0096 | 662 | c.136 others(681): Show |
TAF4 | ENSG00000130699.20 | transcript | ENST00000252996.9 | protein_coding | 1/14 | chr20 | TogoVar | ||||||
| TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(655): Show |
intron_variant | MODIFIER | HG00438.hp2 NA18945.hp2 NA19011.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0068a0001c0001t0001g0128a0001c0001t0001g0170 | 3 | 258 | 0.0116 | 662 | c.113 others(681): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| TERT_chr5_1248167_1300068 | 1272715 | A | ACACATCA others(655): Show |
intron_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0381 | 1 | 392 | 0.0026 | 662 | c.228 others(679): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | ||||||
| TMPRSS9_chr19_2355265_2431261 | 2377639 | C | CTCTCCCC others(655): Show |
intron_variant | MODIFIER | NA18971.hp1 NA18971.hp2 |
a0002a0006 | a0002c0002a0006c0007 | a0002c0002t0001a0006c0007t0003 | a0002c0002t0001g0097a0006c0007t0003g0018 | 2 | 114 | 0.0175 | 662 | c.-25 others(681): Show |
TMPRSS9 | ENSG00000178297.15 | transcript | ENST00000696167.1 | protein_coding | 1/18 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| TP53AIP1_chr11_128930370_128947871 | 128930556 | C | CTGGGGTT others(655): Show |
downstream_gene_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0106 | 1 | 466 | 0.0022 | 662 | c.*50 others(673): Show |
TP53AIP1 | ENSG00000120471.16 | transcript | ENST00000531399.6 | protein_coding | 4813 | chr11 | TogoVar | ||||||
| TUBGCP5_chr15_22994177_23044569 | 23044456 | T | TTCATAAC others(655): Show |
upstream_gene_variant | MODIFIER | HG03453.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0193 | 1 | 351 | 0.0029 | 662 | c.-49 others(673): Show |
TUBGCP5 | ENSG00000275835.5 | transcript | ENST00000615383.5 | protein_coding | 4888 | chr15 | TogoVar | ||||||
| UBE2J2_chr1_1248912_1278854 | 1249561 | T | TGGACCGA others(655): Show |
downstream_gene_variant | MODIFIER | NA19060.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0260 | 1 | 324 | 0.0031 | 662 | c.*56 others(673): Show |
UBE2J2 | ENSG00000160087.21 | transcript | ENST00000349431.11 | protein_coding | 4350 | chr1 | TogoVar | ||||||
| VAMP2_chr17_8154149_8167948 | 8166152 | G | GGCGCAGT others(655): Show |
upstream_gene_variant | MODIFIER | HG02486.hp2 | a0001 | a0001c0002 | a0001c0002t0015 | a0001c0002t0015g0055 | 1 | 414 | 0.0024 | 662 | c.-32 others(673): Show |
VAMP2 | ENSG00000220205.10 | transcript | ENST00000316509.11 | protein_coding | 3205 | chr17 | TogoVar | ||||||
| VAMP2_chr17_8154149_8167948 | 8166152 | G | GGCGCAGT others(655): Show |
upstream_gene_variant | MODIFIER | HG00423.hp1 HG00621.hp1 HG00735.hp2 others(97): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0001a0001c0001t0001g0006a0001c0001t0001g0048others(33): Show | 100 | 414 | 0.2416 | 662 | c.-32 others(673): Show |
VAMP2 | ENSG00000220205.10 | transcript | ENST00000316509.11 | protein_coding | 3205 | chr17 | TogoVar | ||||||
| ZNF365_chr10_62369369_62407450 | 62370997 | A | ATATATAT others(655): Show |
upstream_gene_variant | MODIFIER | NA19054.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0042 | 1 | 350 | 0.0029 | 662 | c.-34 others(673): Show |
ZNF365 | ENSG00000138311.18 | transcript | ENST00000395254.8 | protein_coding | 3371 | chr10 | TogoVar | ||||||
| ASAP1_chr8_130047104_130448674 | 130049484 | G | GGGGGAAC others(656): Show |
downstream_gene_variant | MODIFIER | HG01358.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0101 | 1 | 308 | 0.0033 | 663 | c.*52 others(674): Show |
ASAP1 | ENSG00000153317.15 | transcript | ENST00000518721.6 | protein_coding | 2619 | chr8 | TogoVar | ||||||
| AZU1_chr19_822837_837018 | 835528 | A | AGCCCCCA others(656): Show |
downstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0080 | 1 | 391 | 0.0026 | 663 | c.*36 others(674): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3511 | chr19 | TogoVar | ||||||
| B4GALNT4_chr11_364499_387117 | 374688 | G | GAGGGAGG others(656): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0017 | a0017c0025 | a0017c0025t0001 | a0017c0025t0001g0110 | 1 | 184 | 0.0054 | 663 | c.784 others(678): Show |
B4GALNT4 | ENSG00000182272.12 | transcript | ENST00000329962.11 | protein_coding | 8/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| C17orf67_chr17_56786913_56838920 | 56792730 | A | ATGATGGT others(656): Show |
intron_variant | MODIFIER | HG01167.hp1 HG01169.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131a0001c0001t0001g0132 | 2 | 292 | 0.0069 | 663 | c.*21 others(678): Show |
C17orf67 | ENSG00000214226.9 | transcript | ENST00000397861.7 | protein_coding | 7/7 | chr17 | TogoVar | ||||||
| CACNA1C_chr12_2047987_2702950 | 2520769 | G | GTGTGCTT others(656): Show |
intron_variant | MODIFIER | HG02965.hp2 HG03098.hp2 |
a0001a0006 | a0001c0001a0006c0028 | a0001c0001t0003a0006c0028t0006 | a0001c0001t0003g0063a0006c0028t0006g0072 | 2 | 104 | 0.0192 | 663 | c.139 others(682): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CACNA1C_chr12_2047987_2702950 | 2520779 | T | TAGGAGGG others(656): Show |
intron_variant | MODIFIER | NA18906.hp2 | a0001 | a0001c0025 | a0001c0025t0007 | a0001c0025t0007g0012 | 1 | 104 | 0.0096 | 663 | c.139 others(682): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CACNG6_chr19_53986637_54017666 | 53991080 | A | ACCCCCAG others(656): Show |
upstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0070 | 1 | 430 | 0.0023 | 663 | c.-17 others(674): Show |
CACNG6 | ENSG00000130433.8 | transcript | ENST00000252729.7 | protein_coding | 556 | chr19 | TogoVar | ||||||
| CACNG8_chr19_53957937_53995215 | 53991080 | A | ACCCCCAG others(656): Show |
downstream_gene_variant | MODIFIER | NA19066.hp1 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0083 | 1 | 394 | 0.0025 | 663 | c.*82 others(674): Show |
CACNG8 | ENSG00000142408.7 | transcript | ENST00000270458.4 | protein_coding | 866 | chr19 | TogoVar | ||||||
| CCDC6_chr10_59783747_59911556 | 59882384 | G | GGGGAGAA others(656): Show |
intron_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0120 | 1 | 288 | 0.0035 | 663 | c.303 others(682): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
| CCDC6_chr10_59783747_59911556 | 59882475 | G | GCGGGAGA others(656): Show |
intron_variant | MODIFIER | HG03130.hp1 NA19030.hp1 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0136a0001c0001t0006g0137 | 2 | 288 | 0.0069 | 663 | c.303 others(682): Show |
CCDC6 | ENSG00000108091.11 | transcript | ENST00000263102.7 | protein_coding | 1/8 | chr10 | TogoVar | ||||||
| CCN4_chr8_133186039_133236690 | 133214085 | T | TTATACAT others(656): Show |
intron_variant | MODIFIER | NA18993.hp2 NA19067.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0317a0001c0001t0001g0326 | 2 | 396 | 0.0051 | 663 | c.349 others(678): Show |
CCN4 | ENSG00000104415.14 | transcript | ENST00000250160.11 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
| CECR2_chr22_17364460_17563151 | 17524554 | G | GGCTAATT others(656): Show |
intron_variant | MODIFIER | NA19240.hp1 | a0001 | a0001c0001 | a0001c0001t0037 | a0001c0001t0037g0294 | 1 | 324 | 0.0031 | 663 | c.110 others(680): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| CFAP46_chr10_132803392_132947570 | 132852218 | T | TTTACTTA others(656): Show |
intron_variant | MODIFIER | HG00544.hp2 HG00741.hp1 HG01123.hp1 others(20): Show |
a0008a0009a0013others(9): Show | a0008c0009a0008c0097a0009c0018others(12): Show | a0008c0009t0001a0008c0009t0002a0008c0097t0001others(13): Show | a0008c0009t0001g0120a0008c0009t0001g0122a0008c0009t0001g0123others(20): Show | 23 | 246 | 0.0935 | 663 | c.557 others(680): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 39/57 | chr10 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132852242 | A | AATCCACA others(656): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00323.hp1 HG00642.hp2 others(8): Show |
a0004a0033a0041others(1): Show | a0004c0005a0033c0048a0041c0049others(1): Show | a0004c0005t0001a0004c0005t0002a0033c0048t0001others(2): Show | a0004c0005t0001g0220a0004c0005t0001g0221a0004c0005t0001g0222others(8): Show | 11 | 246 | 0.0447 | 663 | c.557 others(680): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 39/57 | chr10 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132852263 | C | CCTCCATT others(656): Show |
intron_variant | MODIFIER | HG02717.hp1 HG03195.hp1 |
a0024a0045 | a0024c0060a0045c0059 | a0024c0060t0001a0045c0059t0001 | a0024c0060t0001g0173a0045c0059t0001g0167 | 2 | 246 | 0.0081 | 663 | c.557 others(680): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 39/57 | chr10 | TogoVar | ||||||
| CFAP46_chr10_132803392_132947570 | 132852263 | C | CCTCCATT others(656): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0009 | a0009c0043 | a0009c0043t0001 | a0009c0043t0001g0155 | 1 | 246 | 0.0041 | 663 | c.557 others(680): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 39/57 | chr10 | TogoVar |