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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
KCTD8_chr4_44168903_44453809 | 44417614 | A | AAAATAAA others(1023): Show |
intron_variant | MODIFIER | HG02922.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0266a0001c0001t0002g0137 | 2 | 294 | 0.0068 | 1030 | c.961 others(1049): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
KCTD8_chr4_44168903_44453809 | 44417614 | A | AAAATAAA others(1023): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02451.hp2 HG02572.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0002a0002c0003t0001others(1): Show | a0001c0001t0001g0143a0001c0001t0001g0239a0001c0001t0002g0138others(6): Show | 9 | 294 | 0.0306 | 1030 | c.961 others(1049): Show |
KCTD8 | ENSG00000183783.7 | transcript | ENST00000360029.4 | protein_coding | 1/1 | chr4 | TogoVar | ||||||
LHPP_chr10_124456823_124619141 | 124507236 | G | GGTAGACA others(1023): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 260 | 0.0039 | 1030 | c.624 others(1047): Show |
LHPP | ENSG00000107902.14 | transcript | ENST00000368842.10 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
LMF1_chr16_848634_975984 | 953580 | C | CACCCACC others(1023): Show |
intron_variant | MODIFIER | NA19011.hp1 | a0002 | a0002c0016 | a0002c0016t0001 | a0002c0016t0001g0076 | 1 | 294 | 0.0034 | 1030 | c.503 others(1045): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | ||||||
LORICRIN_chr1_153254687_153267124 | 153256755 | A | ATAAAACT others(1023): Show |
upstream_gene_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 422 | 0.0024 | 1030 | c.-30 others(1041): Show |
LORICRIN | ENSG00000203782.6 | transcript | ENST00000368742.4 | protein_coding | 2931 | chr1 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(1023): Show |
intron_variant | MODIFIER | HG04228.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0126 | 1 | 280 | 0.0036 | 1030 | c.641 others(1045): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MICALL2_chr7_1429359_1464470 | 1446452 | G | GGGGGGAG others(1023): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0206 | 1 | 280 | 0.0036 | 1030 | c.641 others(1045): Show |
MICALL2 | ENSG00000164877.19 | transcript | ENST00000297508.8 | protein_coding | 5/16 | chr7 | TogoVar | ||||||
MPG_chr16_73225_90846 | 82247 | G | GCTCCCCA others(1023): Show |
intron_variant | MODIFIER | HG01952.hp1 HG01981.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0190a0001c0001t0001g0194 | 2 | 442 | 0.0045 | 1030 | c.301 others(1045): Show |
MPG | ENSG00000103152.12 | transcript | ENST00000356432.8 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
MSR1_chr8_16102881_16197651 | 16189577 | A | ATATTTTA others(1023): Show |
intron_variant | MODIFIER | HG01255.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0143 | 1 | 330 | 0.0030 | 1030 | c.-5+ others(1045): Show |
MSR1 | ENSG00000038945.15 | transcript | ENST00000262101.10 | protein_coding | 1/9 | chr8 | TogoVar | ||||||
NPRL3_chr16_80386_143673 | 82247 | G | GCTCCCCA others(1023): Show |
downstream_gene_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0249 | 1 | 350 | 0.0029 | 1030 | c.*44 others(1041): Show |
NPRL3 | ENSG00000103148.17 | transcript | ENST00000611875.5 | protein_coding | 3138 | chr16 | TogoVar | ||||||
OPCML_chr11_132409981_133537501 | 133354205 | G | GTGGTGGT others(1023): Show |
intron_variant | MODIFIER | HG02615.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0025 | 1 | 68 | 0.0147 | 1030 | c.61+ others(1049): Show |
OPCML | ENSG00000183715.15 | transcript | ENST00000524381.6 | protein_coding | 1/7 | chr11 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51982220 | A | ATCCGGGA others(1023): Show |
intron_variant | MODIFIER | HG02280.hp1 | a0041 | a0041c0088 | a0041c0088t0006 | a0041c0088t0006g0114 | 1 | 134 | 0.0075 | 1030 | c.575 others(1051): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51982220 | A | ATCCGGGA others(1023): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00738.hp2 HG01081.hp2 others(18): Show |
a0001a0002a0005others(7): Show | a0001c0001a0001c0002a0001c0009others(14): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0009others(15): Show | a0001c0001t0001g0060a0001c0002t0001g0113a0001c0002t0001g0117others(18): Show | 21 | 134 | 0.1567 | 1030 | c.575 others(1051): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PKHD1_chr6_51610299_52092613 | 51982220 | A | ATCCGGGA others(1023): Show |
intron_variant | MODIFIER | HG01074.hp2 | a0005 | a0005c0040 | a0005c0040t0001 | a0005c0040t0001g0029 | 1 | 134 | 0.0075 | 1030 | c.575 others(1051): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 35/66 | chr6 | TogoVar | ||||||
PPP1R14C_chr6_150138044_150255392 | 150167965 | T | TCTTTCTC others(1023): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0299 | 1 | 312 | 0.0032 | 1030 | c.306 others(1049): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(1023): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0055 | 1 | 312 | 0.0032 | 1030 | c.306 others(1049): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
PPP1R14C_chr6_150138044_150255392 | 150167973 | T | TCCTTCTC others(1023): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0054 | 1 | 312 | 0.0032 | 1030 | c.306 others(1049): Show |
PPP1R14C | ENSG00000198729.5 | transcript | ENST00000361131.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
RIMBP2_chr12_130391133_130721299 | 130392436 | C | CGTGGGTG others(1023): Show |
downstream_gene_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0005 | a0001c0005t0009 | a0001c0005t0009g0157 | 1 | 180 | 0.0056 | 1030 | c.*49 others(1041): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3696 | chr12 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130392436 | C | CGTGGGTG others(1023): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 HG00639.hp1 HG00639.hp2 others(6): Show |
a0001a0008 | a0001c0001a0001c0002a0001c0021others(1): Show | a0001c0001t0001a0001c0002t0001a0001c0021t0001others(1): Show | a0001c0001t0001g0145a0001c0002t0001g0019a0001c0002t0001g0063others(6): Show | 9 | 180 | 0.0500 | 1030 | c.*49 others(1041): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3696 | chr12 | TogoVar | ||||||
RIMBP2_chr12_130391133_130721299 | 130392436 | C | CGTGGGTG others(1023): Show |
downstream_gene_variant | MODIFIER | HG04228.hp1 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0164 | 1 | 180 | 0.0056 | 1030 | c.*49 others(1041): Show |
RIMBP2 | ENSG00000060709.17 | transcript | ENST00000690449.1 | protein_coding | 3696 | chr12 | TogoVar | ||||||
SPATA3_chr2_230991121_231013040 | 231005580 | T | TCATCACC others(1023): Show |
intron_variant | MODIFIER | NA18952.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0128 | 1 | 436 | 0.0023 | 1030 | c.*11 others(1049): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
SPATA3_chr2_230991121_231013040 | 231005580 | T | TCATCACC others(1023): Show |
intron_variant | MODIFIER | NA19006.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0121 | 1 | 436 | 0.0023 | 1030 | c.*11 others(1049): Show |
SPATA3 | ENSG00000173699.17 | transcript | ENST00000433428.7 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
TAFA5_chr22_48484553_48756932 | 48620724 | A | ACCATCCC others(1023): Show |
intron_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0206 | 1 | 258 | 0.0039 | 1030 | c.113 others(1049): Show |
TAFA5 | ENSG00000219438.9 | transcript | ENST00000402357.6 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
TSHZ2_chr20_52967358_53500330 | 53204081 | T | TTATATCA others(1023): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0003 | a0002c0003t0017 | a0002c0003t0017g0150 | 1 | 174 | 0.0058 | 1030 | c.41- others(1047): Show |
TSHZ2 | ENSG00000182463.17 | transcript | ENST00000371497.10 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
TUBB2B_chr6_3219277_3232653 | 3222258 | C | CCACTACT others(1023): Show |
downstream_gene_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 1030 | c.*24 others(1041): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 2018 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1023): Show |
downstream_gene_variant | MODIFIER | NA19000.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0002 | 1 | 360 | 0.0028 | 1030 | c.*24 others(1041): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1023): Show |
downstream_gene_variant | MODIFIER | HG00597.hp2 HG01934.hp1 HG02523.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 3 | 360 | 0.0083 | 1030 | c.*24 others(1041): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1023): Show |
downstream_gene_variant | MODIFIER | NA18963.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 360 | 0.0028 | 1030 | c.*24 others(1041): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1023): Show |
downstream_gene_variant | MODIFIER | HG00408.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 1030 | c.*24 others(1041): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1023): Show |
downstream_gene_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00609.hp1 others(16): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001 | a0001c0001t0001g0001a0001c0001t0002g0003a0001c0002t0001g0002 | 19 | 360 | 0.0528 | 1030 | c.*24 others(1041): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1023): Show |
downstream_gene_variant | MODIFIER | NA19003.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0003 | 1 | 360 | 0.0028 | 1030 | c.*24 others(1041): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
TUBB2B_chr6_3219277_3232653 | 3222288 | T | TCACCATC others(1023): Show |
downstream_gene_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 360 | 0.0028 | 1030 | c.*24 others(1041): Show |
TUBB2B | ENSG00000137285.11 | transcript | ENST00000259818.8 | protein_coding | 1988 | chr6 | TogoVar | ||||||
ZBTB34_chr9_126855639_126890878 | 126876197 | T | TCCCCCTT others(1023): Show |
intron_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 246 | 0.0041 | 1030 | c.-10 others(1047): Show |
ZBTB34 | ENSG00000177125.6 | transcript | ENST00000319119.5 | protein_coding | 1/1 | chr9 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7863941 | T | TGCACAAC others(1024): Show |
intron_variant | MODIFIER | NA19063.hp1 | a0001 | a0001c0007 | a0001c0007t0006 | a0001c0007t0006g0263 | 1 | 318 | 0.0031 | 1031 | c.225 others(1048): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
AFAP1_chr4_7753714_7944861 | 7864069 | C | CCATTCCC others(1024): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0073 | 1 | 318 | 0.0031 | 1031 | c.225 others(1048): Show |
AFAP1 | ENSG00000196526.11 | transcript | ENST00000420658.6 | protein_coding | 3/17 | chr4 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1024): Show |
intron_variant | MODIFIER | HG02280.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144 | 1 | 238 | 0.0042 | 1031 | c.787 others(1046): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1024): Show |
intron_variant | MODIFIER | HG03654.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0130 | 1 | 238 | 0.0042 | 1031 | c.787 others(1046): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | ||||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1024): Show |
intron_variant | MODIFIER | HG02148.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 318 | 0.0031 | 1031 | c.285 others(1050): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1024): Show |
intron_variant | MODIFIER | NA19068.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 318 | 0.0031 | 1031 | c.285 others(1050): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1024): Show |
intron_variant | MODIFIER | HG00741.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0293 | 1 | 318 | 0.0031 | 1031 | c.285 others(1050): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1024): Show |
intron_variant | MODIFIER | NA18974.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0123 | 1 | 318 | 0.0031 | 1031 | c.285 others(1050): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1024): Show |
intron_variant | MODIFIER | HG03927.hp2 NA19065.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0010 | a0001c0001t0001g0303a0001c0001t0010g0109 | 2 | 318 | 0.0063 | 1031 | c.285 others(1050): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1024): Show |
intron_variant | MODIFIER | HG02132.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0145 | 1 | 318 | 0.0031 | 1031 | c.285 others(1050): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1024): Show |
intron_variant | MODIFIER | HG02129.hp2 NA18959.hp2 NA19080.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0175a0001c0001t0001g0201a0001c0001t0001g0315 | 3 | 318 | 0.0094 | 1031 | c.285 others(1050): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1024): Show |
intron_variant | MODIFIER | NA19085.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 318 | 0.0031 | 1031 | c.285 others(1050): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
ARID2_chr12_45724706_45913037 | 45781372 | T | TTGGCCAG others(1024): Show |
intron_variant | MODIFIER | HG01081.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0233 | 1 | 318 | 0.0031 | 1031 | c.285 others(1050): Show |
ARID2 | ENSG00000189079.18 | transcript | ENST00000334344.11 | protein_coding | 3/20 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CACNA1H_chr16_1148106_1226768 | 1185577 | T | TGGCGGGT others(1024): Show |
intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0032 | a0001c0032t0021 | a0001c0032t0021g0266 | 1 | 338 | 0.0030 | 1031 | c.300 others(1048): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CCDC63_chr12_110841987_110912535 | 110905955 | T | TATATAAT others(1024): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 288 | 0.0035 | 1031 | c.154 others(1050): Show |
CCDC63 | ENSG00000173093.13 | transcript | ENST00000308208.10 | protein_coding | 11/11 | chr12 | TogoVar | ||||||
CD300A_chr17_74461634_74489794 | 74482697 | C | CCTTCCTT others(1024): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0002 | a0002c0003 | a0002c0003t0003 | a0002c0003t0003g0120 | 1 | 424 | 0.0024 | 1031 | c.774 others(1046): Show |
CD300A | ENSG00000167851.15 | transcript | ENST00000360141.8 | protein_coding | 6/6 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | |||||
CFAP46_chr10_132803392_132947570 | 132826439 | C | CGGAGCCA others(1024): Show |
intron_variant | MODIFIER | NA18966.hp2 | a0040 | a0040c0050 | a0040c0050t0001 | a0040c0050t0001g0178 | 1 | 246 | 0.0041 | 1031 | c.711 others(1050): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar |