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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CEP170B_chr14_104860268_104901747 | 104884793 | G | GGGGGGTG others(94): Show |
intron_variant | MODIFIER | HG02735.hp1 | a0002 | a0002c0012 | a0002c0012t0002 | a0002c0012t0002g0211 | 1 | 328 | 0.0031 | 101 | c.177 others(118): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CEP170B_chr14_104860268_104901747 | 104884794 | G | GGGGGTGG others(94): Show |
intron_variant | MODIFIER | HG02723.hp1 | a0030 | a0030c0040 | a0030c0040t0011 | a0030c0040t0011g0273 | 1 | 328 | 0.0031 | 101 | c.177 others(118): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
CFAP46_chr10_132803392_132947570 | 132822897 | C | CTGATGTG others(94): Show |
intron_variant | MODIFIER | HG01261.hp1 | a0009 | a0009c0043 | a0009c0043t0001 | a0009c0043t0001g0155 | 1 | 246 | 0.0041 | 101 | c.711 others(120): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132822914 | A | AGTGCTGG others(94): Show |
intron_variant | MODIFIER | HG00733.hp2 | a0064 | a0064c0101 | a0064c0101t0002 | a0064c0101t0002g0022 | 1 | 246 | 0.0041 | 101 | c.711 others(120): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP46_chr10_132803392_132947570 | 132826555 | G | GCCAGAGC others(94): Show |
intron_variant | MODIFIER | HG01261.hp2 HG01358.hp2 HG01993.hp1 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0182a0002c0002t0001g0195a0002c0002t0001g0203 | 3 | 246 | 0.0122 | 101 | c.711 others(120): Show |
CFAP46 | ENSG00000171811.14 | transcript | ENST00000368586.10 | protein_coding | 50/57 | chr10 | TogoVar | ||||||
CFAP61_chr20_20047532_20365698 | 20356917 | C | CTGAGGGG others(94): Show |
intron_variant | MODIFIER | HG02630.hp1 HG03098.hp1 |
a0001a0002 | a0001c0012a0002c0022 | a0001c0012t0002a0002c0022t0002 | a0001c0012t0002g0172a0002c0022t0002g0049 | 2 | 236 | 0.0085 | 101 | c.351 others(120): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20357073 | C | CTGAGGGG others(94): Show |
intron_variant | MODIFIER | HG01433.hp1 NA18942.hp2 NA18955.hp2 |
a0001a0010a0014 | a0001c0001a0010c0016a0014c0031 | a0001c0001t0002a0010c0016t0002a0014c0031t0002 | a0001c0001t0002g0035a0010c0016t0002g0044a0014c0031t0002g0043 | 3 | 236 | 0.0127 | 101 | c.351 others(120): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20357593 | C | CTGAGGAG others(94): Show |
intron_variant | MODIFIER | HG01891.hp2 | a0001 | a0001c0023 | a0001c0023t0003 | a0001c0023t0003g0054 | 1 | 236 | 0.0042 | 101 | c.351 others(120): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP61_chr20_20047532_20365698 | 20357772 | C | CTGAGGGG others(94): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01109.hp2 NA19030.hp1 |
a0001a0006a0008 | a0001c0001a0006c0011a0008c0017 | a0001c0001t0002a0006c0011t0002a0008c0017t0002 | a0001c0001t0002g0063a0006c0011t0002g0117a0008c0017t0002g0121 | 3 | 236 | 0.0127 | 101 | c.351 others(120): Show |
CFAP61 | ENSG00000089101.19 | transcript | ENST00000245957.10 | protein_coding | 26/26 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
CFAP74_chr1_1916957_2008786 | 1924223 | G | GACCACCC others(94): Show |
intron_variant | MODIFIER | NA19065.hp2 | a0028 | a0028c0036 | a0028c0036t0001 | a0028c0036t0001g0276 | 1 | 278 | 0.0036 | 101 | c.423 others(118): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 34/38 | chr1 | TogoVar | ||||||
CFD_chr19_854664_868641 | 866551 | A | AGGCCCGC others(94): Show |
downstream_gene_variant | MODIFIER | HG01934.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 287 | 0.0035 | 101 | c.*33 others(112): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 2911 | chr19 | TogoVar | ||||||
CHD3_chr17_7883789_7917755 | 7885307 | C | CCCGCCGC others(94): Show |
upstream_gene_variant | MODIFIER | HG01433.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0184 | 1 | 366 | 0.0027 | 101 | c.-36 others(112): Show |
CHD3 | ENSG00000170004.19 | transcript | ENST00000330494.12 | protein_coding | 3481 | chr17 | TogoVar | ||||||
CHM_chrX_85856180_86052558 | 85911164 | T | TATATATA others(94): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0194 | 1 | 245 | 0.0041 | 101 | c.124 others(116): Show |
CHM | ENSG00000188419.14 | transcript | ENST00000357749.7 | protein_coding | 9/14 | chrX | TogoVar | ||||||
CHST8_chr19_33616953_33778506 | 33760264 | G | GCCCTTTC others(94): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00544.hp1 others(93): Show |
a0001a0004 | a0001c0001a0001c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(4): Show | a0001c0001t0001g0012a0001c0001t0001g0014a0001c0001t0001g0020others(93): Show | 96 | 254 | 0.3780 | 101 | c.131 others(120): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33760266 | C | CCTTTCTT others(94): Show |
intron_variant | MODIFIER | HG01071.hp1 HG01099.hp1 HG01515.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0113a0001c0001t0001g0238a0001c0001t0001g0240others(2): Show | 5 | 254 | 0.0197 | 101 | c.131 others(120): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CHST8_chr19_33616953_33778506 | 33760269 | T | TTCTTCCC others(94): Show |
intron_variant | MODIFIER | HG02486.hp1 HG02698.hp1 HG04115.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019a0001c0001t0001g0079a0001c0001t0001g0228 | 3 | 254 | 0.0118 | 101 | c.131 others(120): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | chr19 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10667741 | A | AATCCCTT others(94): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp2 others(113): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0004a0002c0002others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(34): Show | a0001c0001t0001g0024a0001c0001t0001g0039a0001c0001t0001g0041others(113): Show | 116 | 320 | 0.3625 | 101 | c.11+ others(114): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | ||||||
CLNK_chr4_10481395_10689768 | 10667795 | A | AAAACACC others(94): Show |
intron_variant | MODIFIER | HG03098.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 320 | 0.0031 | 101 | c.11+ others(112): Show |
CLNK | ENSG00000109684.16 | transcript | ENST00000226951.11 | protein_coding | 2/18 | chr4 | TogoVar | ||||||
CNOT3_chr19_54132762_54160681 | 54134016 | T | TCCCCTCT others(94): Show |
upstream_gene_variant | MODIFIER | HG02129.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0001 | 1 | 223 | 0.0045 | 101 | c.-40 others(112): Show |
CNOT3 | ENSG00000088038.20 | transcript | ENST00000221232.11 | protein_coding | 3745 | chr19 | TogoVar | ||||||
CNR2_chr1_23865515_23918362 | 23899850 | A | AGAAAGAA others(94): Show |
intron_variant | MODIFIER | HG00323.hp2 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0010 | 1 | 268 | 0.0037 | 101 | c.-46 others(120): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
CNR2_chr1_23865515_23918362 | 23899850 | A | AGAAAGAA others(94): Show |
intron_variant | MODIFIER | NA19057.hp1 NA19057.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0039 | 2 | 268 | 0.0075 | 101 | c.-46 others(120): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
CNR2_chr1_23865515_23918362 | 23899854 | A | AGAAAGAA others(94): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0133 | 1 | 268 | 0.0037 | 101 | c.-46 others(120): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
CNR2_chr1_23865515_23918362 | 23899854 | A | AGAAAGAA others(94): Show |
intron_variant | MODIFIER | HG02055.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0255 | 1 | 268 | 0.0037 | 101 | c.-46 others(120): Show |
CNR2 | ENSG00000188822.8 | transcript | ENST00000374472.5 | protein_coding | 1/1 | chr1 | TogoVar | ||||||
CNTN6_chr3_1088024_1409217 | 1245304 | A | ATATATAA others(94): Show |
intron_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0019 | 1 | 232 | 0.0043 | 101 | c.358 others(120): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL4A1_chr13_110143963_110312157 | 110252655 | A | ATATATGT others(94): Show |
intron_variant | MODIFIER | HG02886.hp1 | a0003 | a0003c0098 | a0003c0098t0003 | a0003c0098t0003g0206 | 1 | 344 | 0.0029 | 101 | c.85- others(116): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
COL5A3_chr19_9954561_10015504 | 9970230 | G | GGGTGAGT others(94): Show |
intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02109.hp2 others(11): Show |
a0013a0021a0067others(1): Show | a0013c0008a0021c0038a0067c0100others(1): Show | a0013c0008t0001a0021c0038t0001a0067c0100t0001others(1): Show | a0013c0008t0001g0044a0013c0008t0001g0045a0013c0008t0001g0046others(11): Show | 14 | 412 | 0.0340 | 101 | c.393 others(118): Show |
COL5A3 | ENSG00000080573.7 | transcript | ENST00000264828.4 | protein_coding | 54/66 | chr19 | TogoVar | ||||||
COPE_chr19_18894514_18924387 | 18902768 | G | GAAAGAAA others(94): Show |
intron_variant | MODIFIER | HG02717.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0130 | 1 | 330 | 0.0030 | 101 | c.735 others(116): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | ||||||
COPE_chr19_18894514_18924387 | 18902768 | G | GAAAGAAA others(94): Show |
intron_variant | MODIFIER | NA19080.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0152 | 1 | 330 | 0.0030 | 101 | c.735 others(116): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | ||||||
COPE_chr19_18894514_18924387 | 18902768 | G | GAAAGGAA others(94): Show |
intron_variant | MODIFIER | HG03704.hp2 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0039 | 1 | 330 | 0.0030 | 101 | c.735 others(116): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | ||||||
COPE_chr19_18894514_18924387 | 18902825 | G | GAAGGAAG others(94): Show |
intron_variant | MODIFIER | NA18999.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0112 | 1 | 330 | 0.0030 | 101 | c.735 others(116): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | ||||||
COPE_chr19_18894514_18924387 | 18902825 | G | GAAGGAAG others(94): Show |
intron_variant | MODIFIER | HG01109.hp1 NA18977.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0230a0001c0002t0001g0233 | 2 | 330 | 0.0061 | 101 | c.735 others(116): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | ||||||
COPE_chr19_18894514_18924387 | 18902825 | G | GAAGGAAG others(94): Show |
intron_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0168 | 1 | 330 | 0.0030 | 101 | c.735 others(116): Show |
COPE | ENSG00000105669.14 | transcript | ENST00000262812.9 | protein_coding | 7/9 | chr19 | TogoVar | ||||||
CPED1_chr7_120983711_121302442 | 121047716 | T | TTCCTCTT others(94): Show |
intron_variant | MODIFIER | HG02647.hp1 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0048a0001c0001t0006g0049 | 2 | 140 | 0.0143 | 101 | c.540 others(116): Show |
CPED1 | ENSG00000106034.18 | transcript | ENST00000310396.10 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89587330 | G | GCCCCGCC others(94): Show |
intron_variant | MODIFIER | HG03492.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0215 | 1 | 348 | 0.0029 | 101 | c.927 others(116): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89588206 | G | GCGTGTCA others(94): Show |
intron_variant | MODIFIER | HG01496.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0249 | 1 | 348 | 0.0029 | 101 | c.928 others(116): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPNE7_chr16_89570758_89602246 | 89588206 | G | GCGTGTCA others(94): Show |
intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0023 | 1 | 348 | 0.0029 | 101 | c.928 others(116): Show |
CPNE7 | ENSG00000178773.15 | transcript | ENST00000319518.13 | protein_coding | 9/14 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CPT1C_chr19_49686116_49718731 | 49702007 | A | AATATATT others(94): Show |
intron_variant | MODIFIER | HG01099.hp2 HG01109.hp1 HG02056.hp2 others(2): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0178a0001c0001t0001g0179a0001c0001t0001g0238others(2): Show | 5 | 350 | 0.0143 | 101 | c.693 others(116): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CPT1C_chr19_49686116_49718731 | 49702007 | A | AATATATT others(94): Show |
intron_variant | MODIFIER | HG01346.hp2 HG02486.hp1 HG02818.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0166a0001c0001t0002g0168a0001c0001t0002g0169others(2): Show | 5 | 350 | 0.0143 | 101 | c.693 others(116): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CPT1C_chr19_49686116_49718731 | 49702024 | A | ATAAATAT others(94): Show |
intron_variant | MODIFIER | HG02630.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0091 | 1 | 350 | 0.0029 | 101 | c.693 others(116): Show |
CPT1C | ENSG00000169169.15 | transcript | ENST00000598293.6 | protein_coding | 7/19 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
CRELD2_chr22_49913634_49932537 | 49926831 | C | CCCCCCCA others(94): Show |
intron_variant | MODIFIER | HG01884.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0148 | 1 | 324 | 0.0031 | 101 | c.101 others(118): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
CRTC3_chr15_90524923_90650345 | 90647321 | T | TCCTCCTC others(94): Show |
downstream_gene_variant | MODIFIER | NA21309.hp1 | a0002 | a0002c0002 | a0002c0002t0007 | a0002c0002t0007g0130 | 1 | 276 | 0.0036 | 101 | c.*51 others(112): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1977 | chr15 | TogoVar | ||||||
CRYBG1_chr6_106355717_106577017 | 106483401 | T | TATATATA others(94): Show |
intron_variant | MODIFIER | HG01074.hp1 | a0001 | a0001c0009 | a0001c0009t0001 | a0001c0009t0001g0023 | 1 | 272 | 0.0037 | 101 | c.313 others(120): Show |
CRYBG1 | ENSG00000112297.18 | transcript | ENST00000633556.3 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
CSMD1_chr8_2930361_4999914 | 3448321 | A | AAGGGAGG others(94): Show |
intron_variant | MODIFIER | HG01081.hp2 HG01884.hp2 HG02486.hp2 others(13): Show |
a0001a0002a0003others(6): Show | a0001c0004a0001c0019a0001c0020others(13): Show | a0001c0004t0063a0001c0019t0078a0001c0020t0016others(13): Show | a0001c0004t0063g0095a0001c0019t0078g0105a0001c0020t0016g0065others(13): Show | 16 | 126 | 0.1270 | 101 | c.156 others(122): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3448341 | G | GAAGGAAG others(94): Show |
intron_variant | MODIFIER | HG00423.hp1 NA19060.hp1 NA19074.hp2 others(1): Show |
a0001a0002a0025 | a0001c0007a0001c0090a0002c0092others(1): Show | a0001c0007t0001a0001c0090t0001a0002c0092t0001others(1): Show | a0001c0007t0001g0035a0001c0090t0001g0027a0002c0092t0001g0011others(1): Show | 4 | 126 | 0.0318 | 101 | c.156 others(122): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 12/69 | chr8 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 4595371 | T | TCGATGCA others(94): Show |
intron_variant | MODIFIER | HG01243.hp1 HG02572.hp1 |
a0005a0033 | a0005c0064a0033c0042 | a0005c0064t0051a0033c0042t0004 | a0005c0064t0051g0078a0033c0042t0004g0004 | 2 | 126 | 0.0159 | 101 | c.302 others(120): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 2/69 | chr8 | TogoVar | ||||||
CTSS_chr1_150725188_150770778 | 150744468 | T | TTTATATA others(94): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00621.hp1 others(44): Show |
a0002 | a0002c0002 | a0002c0002t0002a0002c0002t0005a0002c0002t0007others(2): Show | a0002c0002t0002g0002a0002c0002t0002g0005a0002c0002t0002g0006others(32): Show | 47 | 344 | 0.1366 | 101 | c.896 others(118): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
CTSS_chr1_150725188_150770778 | 150744505 | A | ATTATATA others(94): Show |
intron_variant | MODIFIER | HG00408.hp2 HG02027.hp2 NA18995.hp1 |
a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0055a0002c0002t0002g0069a0002c0002t0002g0070 | 3 | 344 | 0.0087 | 101 | c.896 others(118): Show |
CTSS | ENSG00000163131.12 | transcript | ENST00000368985.8 | protein_coding | 7/7 | chr1 | TogoVar | ||||||
CUX2_chr12_111029165_111355554 | 111325762 | T | TGGTGGGG others(94): Show |
intron_variant | MODIFIER | HG01099.hp1 HG02145.hp1 HG02622.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0004a0001c0002t0001g0023a0001c0002t0001g0025others(2): Show | 5 | 100 | 0.0500 | 101 | c.292 others(120): Show |
CUX2 | ENSG00000111249.14 | transcript | ENST00000261726.11 | protein_coding | 18/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
CYP4F11_chr19_15907377_15939529 | 15933504 | G | GCGGGGAG others(94): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0001 | a0002c0001t0033 | a0002c0001t0033g0013 | 1 | 386 | 0.0026 | 101 | c.198 others(116): Show |
CYP4F11 | ENSG00000171903.17 | transcript | ENST00000402119.9 | protein_coding | 1/11 | chr19 | TogoVar | ||||||
CYP4F3_chr19_15635897_15667825 | 15650812 | T | TTCTTTCT others(94): Show |
intron_variant | MODIFIER | NA18955.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0368 | 1 | 424 | 0.0024 | 101 | c.918 others(116): Show |
CYP4F3 | ENSG00000186529.16 | transcript | ENST00000221307.13 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr19 | TogoVar |