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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
PARVB_chr22_44019302_44177939 | 44112686 | G | GGATACAT others(881): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0036 | a0001c0001t0036g0095 | 1 | 237 | 0.0042 | 888 | c.274 others(905): Show |
PARVB | ENSG00000188677.15 | transcript | ENST00000338758.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
PIEZO1_chr16_88710338_88790220 | 88731952 | T | TGGGGAGG others(881): Show |
intron_variant | MODIFIER | HG02258.hp1 HG02886.hp1 |
a0009a0053 | a0009c0014a0053c0145 | a0009c0014t0003a0053c0145t0003 | a0009c0014t0003g0024 a0053c0145t0003g0019 |
2 | 268 | 0.0075 | 888 | c.299 others(903): Show |
PIEZO1 | ENSG00000103335.22 | transcript | ENST00000301015.14 | protein_coding | 21/50 | chr16 | TogoVar | |||||||
PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCCA others(881): Show |
intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0106 | 1 | 233 | 0.0043 | 888 | c.117 others(905): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | |||||||
PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCCA others(881): Show |
intron_variant | MODIFIER | HG00558.hp1 HG01255.hp1 HG01928.hp2 others(24): Show |
a0001a0008 | a0001c0001a0001c0015a0008c0017 | a0001c0001t0001a0001c0001t0002a0001c0015t0001others(1): Show | a0001c0001t0001g0003 a0001c0001t0001g0008 a0001c0001t0001g0040 others(5): Show |
27 | 259 | 0.1042 | 888 | c.117 others(905): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | |||||||
PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCCA others(881): Show |
intron_variant | MODIFIER | HG03516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0114 | 1 | 233 | 0.0043 | 888 | c.117 others(905): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | |||||||
PITPNM1_chr11_67486768_67510363 | 67499576 | T | TCCATCCA others(881): Show |
intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0109 | 1 | 233 | 0.0043 | 888 | c.117 others(905): Show |
PITPNM1 | ENSG00000110697.13 | transcript | ENST00000356404.8 | protein_coding | 8/23 | chr11 | TogoVar | |||||||
PNPLA7_chr9_137454952_137555402 | 137502728 | C | CGGGGGGG others(881): Show |
intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0037 | a0001c0037t0001 | a0001c0037t0001g0007 | 1 | 181 | 0.0055 | 888 | c.147 others(907): Show |
PNPLA7 | ENSG00000130653.16 | transcript | ENST00000406427.6 | protein_coding | 14/34 | chr9 | TogoVar | |||||||
POLG_chr15_89311320_89339824 | 89325057 | A | AGAGTGAG others(881): Show |
intron_variant | MODIFIER | HG03927.hp1 | a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0158 | 1 | 336 | 0.0030 | 888 | c.194 others(905): Show |
POLG | ENSG00000140521.18 | transcript | ENST00000268124.11 | protein_coding | 10/22 | chr15 | TogoVar | |||||||
RAB39B_chrX_155253235_155269491 | 155257645 | T | TTCCCTAG others(881): Show |
downstream_gene_variant | MODIFIER | HG02451.hp1 HG03195.hp2 HG03486.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0008a0001c0001t0014 | a0001c0001t0001g0024 a0001c0001t0008g0013 a0001c0001t0014g0027 |
4 | 122 | 0.0328 | 888 | c.*31 others(899): Show |
RAB39B | ENSG00000155961.5 | transcript | ENST00000369454.4 | protein_coding | 589 | chrX | TogoVar | |||||||
RBFOX3_chr17_79084345_79616051 | 79554353 | C | CACCTGGC others(881): Show |
intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0022 | 1 | 146 | 0.0068 | 888 | c.-32 others(909): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RBFOX3_chr17_79084345_79616051 | 79554427 | C | CACCTGGC others(881): Show |
intron_variant | MODIFIER | HG02280.hp2 HG02723.hp1 |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0008 | a0001c0001t0004g0095 a0001c0001t0008g0096 |
2 | 145 | 0.0138 | 888 | c.-32 others(909): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
RBFOX3_chr17_79084345_79616051 | 79554464 | C | CACCTGGC others(881): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0083 | 1 | 79 | 0.0127 | 888 | c.-32 others(909): Show |
RBFOX3 | ENSG00000167281.20 | transcript | ENST00000693108.1 | protein_coding | 1/14 | chr17 | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77323000 | T | TTATATTA others(881): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0136 | 1 | 136 | 0.0074 | 888 | c.389 others(909): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
RYR1_chr19_38428691_38592564 | 38554325 | A | ACCTGTAA others(881): Show |
intron_variant | MODIFIER | HG02735.hp2 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0201 | 1 | 212 | 0.0047 | 888 | c.122 others(909): Show |
RYR1 | ENSG00000196218.14 | transcript | ENST00000359596.8 | protein_coding | 89/105 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
SCNN1D_chr1_1275436_1297025 | 1289872 | T | TCCCGTGT others(881): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0086 | 1 | 259 | 0.0039 | 888 | c.166 others(905): Show |
SCNN1D | ENSG00000162572.21 | transcript | ENST00000379116.10 | protein_coding | 12/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
SLC6A12_chr12_185081_219157 | 197206 | C | CATCCATC others(881): Show |
intron_variant | MODIFIER | HG00735.hp1 | a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0363 | 1 | 224 | 0.0045 | 888 | c.107 others(905): Show |
SLC6A12 | ENSG00000111181.13 | transcript | ENST00000684302.1 | protein_coding | 10/15 | chr12 | TogoVar | |||||||
SMOC2_chr6_168436184_168672992 | 168659615 | A | AGGTTGGG others(881): Show |
intron_variant | MODIFIER | HG03209.hp2 HG03225.hp1 |
a0001 | a0001c0007a0001c0011 | a0001c0007t0005a0001c0011t0006 | a0001c0007t0005g0050 a0001c0011t0006g0167 |
2 | 178 | 0.0112 | 888 | c.128 others(907): Show |
SMOC2 | ENSG00000112562.20 | transcript | ENST00000356284.7 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
SPAAR_chr9_35904490_35916686 | 35913714 | G | GTGTGTGT others(881): Show |
downstream_gene_variant | MODIFIER | HG02257.hp1 HG02451.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0002 | 2 | 377 | 0.0053 | 888 | c.*30 others(899): Show |
SPAAR | ENSG00000235387.5 | transcript | ENST00000443779.3 | protein_coding | 2029 | chr9 | TogoVar | |||||||
TCF3_chr19_1604292_1657615 | 1628805 | C | CAGGGGAT others(881): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0002 | a0001c0002t0073 | a0001c0002t0073g0191 | 1 | 250 | 0.0040 | 888 | c.299 others(905): Show |
TCF3 | ENSG00000071564.19 | transcript | ENST00000262965.12 | protein_coding | 5/18 | chr19 | TogoVar | |||||||
TNNT3_chr11_1914703_1943702 | 1939626 | C | CACACACA others(881): Show |
downstream_gene_variant | MODIFIER | NA20905.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0039 | 1 | 8 | 0.1250 | 888 | c.*11 others(899): Show |
TNNT3 | ENSG00000130595.20 | transcript | ENST00000278317.11 | protein_coding | 925 | chr11 | TogoVar | |||||||
TSPAN9_chr12_3072379_3291559 | 3269267 | C | CCTCCGTG others(881): Show |
intron_variant | MODIFIER | HG02451.hp2 | a0001 | a0001c0004 | a0001c0004t0096 | a0001c0004t0096g0055 | 1 | 244 | 0.0041 | 888 | c.64- others(903): Show |
TSPAN9 | ENSG00000011105.14 | transcript | ENST00000011898.10 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
TTLL8_chr22_50013575_50063298 | 50057640 | T | TGGGGTCA others(881): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0181 | 1 | 120 | 0.0083 | 888 | c.-39 others(903): Show |
TTLL8 | ENSG00000138892.12 | transcript | ENST00000433387.2 | protein_coding | 1/13 | chr22 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063935 | A | AGGAGAGG others(881): Show |
downstream_gene_variant | MODIFIER | HG03654.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0148 | 1 | 113 | 0.0088 | 888 | c.*53 others(899): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2220 | chr13 | TogoVar | |||||||
YBEY_chr21_46281342_46302751 | 46292712 | G | GACTCTAG others(881): Show |
intron_variant | MODIFIER | HG01071.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0185 | 1 | 256 | 0.0039 | 888 | c.339 others(905): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294258 | G | GCAAGTTA others(881): Show |
intron_variant | MODIFIER | HG04204.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0160 | 1 | 282 | 0.0035 | 888 | c.340 others(905): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294687 | A | AGTGGGGA others(881): Show |
intron_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 274 | 0.0036 | 888 | c.340 others(905): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294687 | A | AGTGGGGA others(881): Show |
intron_variant | MODIFIER | NA20129.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0186 | 1 | 274 | 0.0036 | 888 | c.340 others(905): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294687 | A | AGTGGGGA others(881): Show |
intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 274 | 0.0036 | 888 | c.340 others(905): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
YBEY_chr21_46281342_46302751 | 46294693 | G | GTCAGCCA others(881): Show |
intron_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 198 | 0.0051 | 888 | c.340 others(905): Show |
YBEY | ENSG00000182362.14 | transcript | ENST00000397701.9 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1173247 | A | ACATCACC others(882): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0003 | a0001c0003t0082 | a0001c0003t0082g0286 | 1 | 202 | 0.0050 | 889 | c.61+ others(904): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ANO9_chr11_412938_447011 | 431600 | C | CGTGGGGG others(882): Show |
intron_variant | MODIFIER | HG01891.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0078 | 1 | 33 | 0.0303 | 889 | c.539 others(902): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
ANO9_chr11_412938_447011 | 431600 | C | CGTGGGGG others(882): Show |
intron_variant | MODIFIER | HG02809.hp1 | a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0061 | 1 | 33 | 0.0303 | 889 | c.539 others(902): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
ANO9_chr11_412938_447011 | 431600 | C | CGTGGGGG others(882): Show |
intron_variant | MODIFIER | HG03942.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0149 | 1 | 33 | 0.0303 | 889 | c.539 others(902): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
ANO9_chr11_412938_447011 | 431600 | C | CGTGGGGG others(882): Show |
intron_variant | MODIFIER | HG00642.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0098 | 1 | 33 | 0.0303 | 889 | c.539 others(902): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
ANO9_chr11_412938_447011 | 431600 | C | CGTGGGGG others(882): Show |
intron_variant | MODIFIER | HG02074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0157 | 1 | 33 | 0.0303 | 889 | c.539 others(902): Show |
ANO9 | ENSG00000185101.13 | transcript | ENST00000332826.7 | protein_coding | 7/22 | chr11 | TogoVar | |||||||
ARHGAP39_chr8_144524179_144690846 | 144687797 | C | CGTGACCA others(882): Show |
upstream_gene_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0041 | 1 | 209 | 0.0048 | 889 | c.-21 others(900): Show |
ARHGAP39 | ENSG00000147799.12 | transcript | ENST00000377307.7 | protein_coding | 1952 | chr8 | TogoVar | |||||||
ASAP2_chr2_9201812_9410678 | 9400249 | T | TCCCCTCC others(882): Show |
intron_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0076 | 1 | 72 | 0.0139 | 889 | c.273 others(906): Show |
ASAP2 | ENSG00000151693.11 | transcript | ENST00000281419.8 | protein_coding | 25/27 | chr2 | TogoVar | |||||||
C2CD4C_chr19_400445_414147 | 404697 | T | TGTGAGGG others(882): Show |
downstream_gene_variant | MODIFIER | NA19074.hp1 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0009 | 1 | 318 | 0.0031 | 889 | c.*23 others(900): Show |
C2CD4C | ENSG00000183186.8 | transcript | ENST00000332235.8 | protein_coding | 747 | chr19 | TogoVar | |||||||
CACNA1H_chr16_1148106_1226768 | 1185766 | C | CATAGGGC others(882): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0161 | 1 | 294 | 0.0034 | 889 | c.300 others(906): Show |
CACNA1H | ENSG00000196557.14 | transcript | ENST00000348261.11 | protein_coding | 2/34 | chr16 | TogoVar | |||||||
CAMK2B_chr7_44212154_44330594 | 44254776 | T | TACCATCA others(882): Show |
intron_variant | MODIFIER | HG00140.hp1 HG01255.hp1 HG01515.hp1 others(5): Show |
a0001a0002 | a0001c0003a0001c0004a0001c0013others(1): Show | a0001c0003t0002a0001c0003t0013a0001c0004t0008others(2): Show | a0001c0003t0002g0044 a0001c0003t0002g0060 a0001c0003t0013g0077 others(4): Show |
8 | 161 | 0.0497 | 889 | c.276 others(904): Show |
CAMK2B | ENSG00000058404.21 | transcript | ENST00000395749.7 | protein_coding | 4/23 | chr7 | TogoVar | |||||||
CCDC77_chr12_396644_447642 | 422064 | C | CCTCCATG others(882): Show |
intron_variant | MODIFIER | HG00323.hp2 HG01106.hp1 NA18971.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0165 a0001c0001t0001g0166 a0001c0001t0001g0200 others(3): Show |
6 | 352 | 0.0170 | 889 | c.413 others(906): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CCNL2_chr1_1380711_1404335 | 1382625 | A | ACCCTTCC others(882): Show |
downstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0190 | 1 | 2 | 0.5000 | 889 | c.*46 others(900): Show |
CCNL2 | ENSG00000221978.13 | transcript | ENST00000400809.8 | protein_coding | 3085 | chr1 | TogoVar | |||||||
CRIP3_chr6_43300472_43313826 | 43312604 | T | TAAAAATT others(882): Show |
upstream_gene_variant | MODIFIER | HG00597.hp1 HG01123.hp1 HG01167.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0006 others(3): Show |
32 | 235 | 0.1362 | 889 | c.-38 others(900): Show |
CRIP3 | ENSG00000146215.14 | transcript | ENST00000372569.8 | protein_coding | 3779 | chr6 | TogoVar | |||||||
CRIP3_chr6_43300472_43313826 | 43312691 | G | ACTTGAGG others(882): Show |
upstream_gene_variant | MODIFIER | HG00673.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 | 1 | 374 | 0.0027 | 889 | c.-38 others(900): Show |
CRIP3 | ENSG00000146215.14 | transcript | ENST00000372569.8 | protein_coding | 3865 | chr6 | TogoVar | |||||||
DLGAP1_chr18_3491032_4460307 | 3618666 | G | GGGTGGCT others(882): Show |
intron_variant | MODIFIER | HG02622.hp1 HG02965.hp2 HG03098.hp1 others(2): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0003a0001c0003t0035a0001c0004t0002others(1): Show | a0001c0001t0003g0071 a0001c0003t0035g0074 a0001c0004t0002g0031 others(2): Show |
5 | 6 | 0.8333 | 889 | c.159 others(910): Show |
DLGAP1 | ENSG00000170579.19 | transcript | ENST00000315677.8 | protein_coding | 7/12 | chr18 | TogoVar | |||||||
EIPR1_chr2_3183970_3382818 | 3316062 | C | CTACCACC others(882): Show |
intron_variant | MODIFIER | HG02622.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 1 | 113 | 0.0088 | 889 | c.259 others(908): Show |
EIPR1 | ENSG00000032389.13 | transcript | ENST00000382125.9 | protein_coding | 3/8 | chr2 | TogoVar | |||||||
HLF_chr17_55259960_55330187 | 55270916 | A | GCAGGCGT others(882): Show |
intron_variant | MODIFIER | NA20805.hp1 | a0001 | a0001c0001 | a0001c0001t0033 | a0001c0001t0033g0324 | 1 | 406 | 0.0025 | 889 | c.451 others(906): Show |
HLF | ENSG00000108924.14 | transcript | ENST00000226067.10 | protein_coding | 2/3 | chr17 | TogoVar | |||||||
IFT140_chr16_1505427_1617072 | 1599475 | G | GGTCAGCC others(882): Show |
intron_variant | MODIFIER | HG01256.hp1 | a0004 | a0004c0006 | a0004c0006t0002 | a0004c0006t0002g0204 | 1 | 205 | 0.0049 | 889 | c.369 others(906): Show |
IFT140 | ENSG00000187535.14 | transcript | ENST00000426508.7 | protein_coding | 4/30 | chr16 | TogoVar | |||||||
IQCG_chr3_197884077_197964991 | 197908037 | G | GTGAAGAG others(882): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01074.hp1 HG01081.hp2 others(20): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0002c0002t0001 | a0001c0001t0001g0273 a0001c0001t0002g0002 a0001c0001t0002g0004 others(20): Show |
23 | 277 | 0.0830 | 889 | c.963 others(906): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 9/11 | chr3 | TogoVar | |||||||
IQCG_chr3_197884077_197964991 | 197908209 | A | ATGAAGTT others(882): Show |
intron_variant | MODIFIER | HG02717.hp2 HG03209.hp1 |
a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0028 a0001c0003t0001g0132 |
2 | 278 | 0.0072 | 889 | c.963 others(906): Show |
IQCG | ENSG00000114473.14 | transcript | ENST00000265239.11 | protein_coding | 9/11 | chr3 | TogoVar |