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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CERS6_chr2_168451272_168780134 | 168520598 | CTTT | C | intron_variant | MODIFIER | HG00280.hp1 HG00609.hp1 HG00621.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0159a0001c0001t0001g0160a0001c0001t0001g0173others(15): Show | 18 | 176 | 0.1023 | -3 | c.171 others(22): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168556991 | CAAA | C | intron_variant | MODIFIER | HG00609.hp1 HG00735.hp1 HG00738.hp1 others(20): Show |
a0001a0002a0003 | a0001c0001a0002c0005a0003c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0096a0001c0001t0001g0143a0001c0001t0001g0147others(20): Show | 23 | 176 | 0.1307 | -3 | c.277 others(20): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168578984 | TAAC | T | intron_variant | MODIFIER | HG02145.hp2 HG02486.hp1 HG02922.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0006a0001c0001t0007others(1): Show | a0001c0001t0001g0130a0001c0001t0006g0031a0001c0001t0006g0032others(3): Show | 6 | 176 | 0.0341 | -3 | c.407 others(22): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168589689 | ACTT | A | intron_variant | MODIFIER | HG03041.hp1 HG03209.hp1 |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0038 | a0001c0001t0007g0119a0001c0001t0038g0115 | 2 | 176 | 0.0114 | -3 | c.407 others(22): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168602517 | AATT | A | intron_variant | MODIFIER | HG01074.hp2 HG01099.hp2 HG01256.hp2 others(45): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(21): Show | a0001c0001t0001g0035a0001c0001t0001g0120a0001c0001t0001g0132others(45): Show | 48 | 176 | 0.2727 | -3 | c.408 others(22): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168622459 | TAAA | T | intron_variant | MODIFIER | HG00558.hp1 HG01074.hp2 HG01099.hp2 others(75): Show |
a0001a0004 | a0001c0001a0001c0002a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0027a0001c0001t0001g0035a0001c0001t0001g0037others(75): Show | 78 | 176 | 0.4432 | -3 | c.408 others(20): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168645089 | TTAA | T | intron_variant | MODIFIER | HG01074.hp2 HG01255.hp2 HG01978.hp1 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0027a0001c0001t0001g0037a0001c0001t0001g0096others(16): Show | 19 | 176 | 0.1080 | -3 | c.465 others(22): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168645117 | ATAT | A | intron_variant | MODIFIER | HG00738.hp1 NA20300.hp2 |
a0001a0003 | a0001c0001a0003c0007 | a0001c0001t0006a0003c0007t0005 | a0001c0001t0006g0008a0003c0007t0005g0018 | 2 | 176 | 0.0114 | -3 | c.465 others(22): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168698252 | AAAG | A | intron_variant | MODIFIER | HG01255.hp2 HG01884.hp2 HG02895.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0009a0001c0001t0012others(2): Show | a0001c0001t0001g0175a0001c0001t0009g0124a0001c0001t0012g0127others(2): Show | 5 | 176 | 0.0284 | -3 | c.609 others(20): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 6/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168717350 | CTTG | C | intron_variant | MODIFIER | HG02615.hp1 HG02630.hp2 HG02647.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008others(6): Show | a0001c0001t0002g0109a0001c0001t0006g0059a0001c0001t0006g0169others(7): Show | 10 | 176 | 0.0568 | -3 | c.739 others(18): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 7/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168724662 | TACA | T | intron_variant | MODIFIER | HG01884.hp1 HG02257.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0016a0001c0001t0002g0017 | 2 | 176 | 0.0114 | -3 | c.845 others(20): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168739052 | ATTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(63): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(19): Show | a0001c0001t0001g0019a0001c0001t0001g0025a0001c0001t0001g0027others(63): Show | 66 | 176 | 0.3750 | -3 | c.845 others(22): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168741373 | TAAA | T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00558.hp1 others(63): Show |
a0001 | a0001c0001a0001c0002a0001c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(18): Show | a0001c0001t0001g0019a0001c0001t0001g0025a0001c0001t0001g0027others(63): Show | 66 | 176 | 0.3750 | -3 | c.845 others(22): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
CERS6_chr2_168451272_168780134 | 168778275 | TGAA | T | downstream_gene_variant | MODIFIER | HG02257.hp2 NA19043.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0037a0001c0002t0028 | a0001c0001t0037g0084a0001c0002t0028g0075 | 2 | 176 | 0.0114 | -3 | c.*86 others(14): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 3142 | chr2 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75374198 | GAAA | G | downstream_gene_variant | MODIFIER | HG02027.hp1 HG02056.hp1 HG02132.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0323a0001c0002t0009g0324a0001c0002t0009g0325others(3): Show | 6 | 336 | 0.0179 | -3 | c.*51 others(14): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 3576 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75393602 | TAAA | T | intron_variant | MODIFIER | HG02559.hp2 HG03098.hp1 HG03139.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0003a0001c0002t0001 | a0001c0001t0003g0297a0001c0001t0003g0298a0001c0002t0001g0082others(5): Show | 8 | 336 | 0.0238 | -3 | c.118 others(22): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 11/16 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75409219 | CTCA | C | intron_variant | MODIFIER | HG02027.hp2 NA18942.hp1 NA18974.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0002 | a0001c0001t0002g0121a0001c0001t0002g0122a0001c0001t0002g0123others(8): Show | 11 | 336 | 0.0327 | -3 | c.930 others(20): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 8/16 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75411970 | TCTC | T | intron_variant | MODIFIER | HG00642.hp1 HG01192.hp2 HG01261.hp2 others(13): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0013 | a0001c0001t0003g0132a0001c0001t0003g0172a0001c0001t0003g0192others(13): Show | 16 | 336 | 0.0476 | -3 | c.838 others(18): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 7/16 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75428775 | CTGT | C | intron_variant | MODIFIER | HG02559.hp2 HG03139.hp1 HG03195.hp1 others(2): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0082a0001c0002t0001g0083a0001c0002t0001g0084others(2): Show | 5 | 336 | 0.0149 | -3 | c.349 others(20): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 3/16 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75432903 | ATCT | A | intron_variant | MODIFIER | HG00140.hp2 HG01106.hp1 HG01934.hp2 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0046a0001c0002t0001g0047a0001c0002t0001g0057 | 3 | 336 | 0.0089 | -3 | c.349 others(20): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 3/16 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75447474 | ATTT | A | intron_variant | MODIFIER | HG02027.hp1 HG02056.hp1 HG02132.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0323a0001c0002t0009g0324a0001c0002t0009g0325others(3): Show | 6 | 336 | 0.0179 | -3 | c.348 others(22): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 3/16 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75449696 | TTGG | T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(68): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(2): Show | a0001c0001t0001g0036a0001c0002t0001g0009a0001c0002t0001g0010others(68): Show | 71 | 336 | 0.2113 | -3 | c.348 others(20): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 3/16 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75456663 | CAAA | C | intron_variant | MODIFIER | HG02027.hp1 HG02056.hp1 HG02132.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0323a0001c0002t0009g0324a0001c0002t0009g0325others(3): Show | 6 | 336 | 0.0179 | -3 | c.348 others(20): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 3/16 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75484606 | GACA | G | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(71): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(3): Show | a0001c0001t0001g0036a0001c0002t0001g0009a0001c0002t0001g0010others(71): Show | 74 | 336 | 0.2202 | -3 | c.231 others(22): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 2/16 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75493361 | AAAC | A | intron_variant | MODIFIER | HG02027.hp1 HG02056.hp1 HG02132.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0323a0001c0002t0009g0324a0001c0002t0009g0325others(3): Show | 6 | 336 | 0.0179 | -3 | c.231 others(22): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 2/16 | chr5 | TogoVar | ||||||
CERT1_chr5_75372775_75516629 | 75500569 | TAGC | T | intron_variant | MODIFIER | HG02027.hp1 HG02056.hp1 HG02132.hp1 others(3): Show |
a0001 | a0001c0002 | a0001c0002t0009 | a0001c0002t0009g0323a0001c0002t0009g0324a0001c0002t0009g0325others(3): Show | 6 | 336 | 0.0179 | -3 | c.231 others(20): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 2/16 | chr5 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55822945 | AAGG | A | intron_variant | MODIFIER | HG03209.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007a0001c0001t0001g0011 | 2 | 87 | 0.0230 | -3 | c.539 others(18): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 4/13 | chr16 | TogoVar | ||||||
CES1_chr16_55797851_55838096 | 55835607 | GAGA | G | upstream_gene_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG01433.hp2 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0001others(2): Show | a0001c0001t0001g0023a0001c0001t0001g0030a0001c0001t0001g0031others(10): Show | 14 | 87 | 0.1609 | -3 | c.-25 others(14): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 2512 | chr16 | TogoVar | ||||||
CES5A_chr16_55841154_55880373 | 55866657 | CTAA | C | intron_variant | MODIFIER | HG02622.hp1 HG03041.hp2 HG03195.hp2 |
a0001a0003a0006 | a0001c0001a0003c0004a0006c0051 | a0001c0001t0003a0003c0004t0002a0006c0051t0001 | a0001c0001t0003g0056a0003c0004t0002g0355a0006c0051t0001g0289 | 3 | 449 | 0.0067 | -3 | c.552 others(18): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 4/12 | chr16 | TogoVar | ||||||
CES5A_chr16_55841154_55880373 | 55866658 | TAAA | T | intron_variant | MODIFIER | HG01106.hp1 HG01891.hp1 HG02145.hp1 others(5): Show |
a0013a0016a0019others(3): Show | a0013c0038a0013c0039a0016c0056others(4): Show | a0013c0038t0002a0013c0039t0002a0016c0056t0001others(4): Show | a0013c0038t0002g0203a0013c0039t0002g0287a0016c0056t0001g0356others(5): Show | 8 | 449 | 0.0178 | -3 | c.552 others(18): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 4/12 | chr16 | TogoVar | ||||||
CES5A_chr16_55841154_55880373 | 55866676 | AAAT | A | intron_variant | MODIFIER | HG02109.hp2 HG02165.hp2 HG02258.hp2 others(8): Show |
a0001a0004a0010others(5): Show | a0001c0002a0004c0006a0010c0019others(6): Show | a0001c0002t0005a0004c0006t0001a0010c0019t0004others(6): Show | a0001c0002t0005g0186a0004c0006t0001g0363a0010c0019t0004g0010others(7): Show | 11 | 449 | 0.0245 | -3 | c.552 others(18): Show |
CES5A | ENSG00000159398.16 | transcript | ENST00000290567.14 | protein_coding | 4/12 | chr16 | TogoVar | ||||||
CETN2_chrX_152821994_152835757 | 152830040 | CAAG | C | intron_variant | MODIFIER | HG02280.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0011 | 2 | 321 | 0.0062 | -3 | c.4-2 others(14): Show |
CETN2 | ENSG00000147400.10 | transcript | ENST00000370277.5 | protein_coding | 1/4 | chrX | TogoVar | ||||||
CETN2_chrX_152821994_152835757 | 152835030 | CCTA | C | upstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 321 | 0.0031 | -3 | c.-43 others(14): Show |
CETN2 | ENSG00000147400.10 | transcript | ENST00000370277.5 | protein_coding | 4274 | chrX | TogoVar | ||||||
CETN2_chrX_152821994_152835757 | 152835095 | GGTT | G | upstream_gene_variant | MODIFIER | NA18959.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 321 | 0.0031 | -3 | c.-43 others(14): Show |
CETN2 | ENSG00000147400.10 | transcript | ENST00000370277.5 | protein_coding | 4339 | chrX | TogoVar | ||||||
CETN3_chr5_90387257_90414756 | 90390763 | AAAT | A | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00544.hp1 HG00558.hp2 others(79): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001a0002c0002t0014others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0005others(32): Show | 82 | 348 | 0.2356 | -3 | c.*32 others(14): Show |
CETN3 | ENSG00000153140.9 | transcript | ENST00000283122.8 | protein_coding | 1493 | chr5 | TogoVar | ||||||
CETP_chr16_56956950_56988845 | 56967669 | AAAC | A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00621.hp2 others(108): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0002c0006others(6): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(7): Show | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0044others(73): Show | 111 | 462 | 0.2403 | -3 | c.234 others(20): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 2/15 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
CFAP100_chr3_126389909_126441556 | 126405085 | GACC | G | intron_variant | MODIFIER | HG01081.hp1 HG01255.hp2 HG01928.hp2 others(32): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0003a0001c0006others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(6): Show | a0001c0001t0001g0017a0001c0001t0001g0148a0001c0001t0001g0274others(25): Show | 35 | 422 | 0.0829 | -3 | c.50- others(18): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 2/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP100_chr3_126389909_126441556 | 126416884 | GTTA | G | intron_variant | MODIFIER | HG01243.hp2 HG01255.hp2 HG02055.hp1 others(23): Show |
a0001a0014 | a0001c0003a0014c0020 | a0001c0003t0001a0014c0020t0001 | a0001c0003t0001g0001a0001c0003t0001g0003a0001c0003t0001g0009others(16): Show | 26 | 422 | 0.0616 | -3 | c.418 others(18): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 5/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP100_chr3_126389909_126441556 | 126423590 | CGGA | C | conservative_inframe_deletion | MODERATE | HG00140.hp1 HG00639.hp1 HG01099.hp1 others(8): Show |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0012a0003c0005t0001g0075a0003c0005t0001g0149others(7): Show | 11 | 422 | 0.0261 | -3 | c.123 others(12): Show |
p.Glu others(6): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 13/17 | 1363/2117 | 1234/1836 | 412/611 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |
CFAP100_chr3_126389909_126441556 | 126429107 | CAAA | C | intron_variant | MODIFIER | HG00280.hp1 HG01070.hp1 HG01070.hp2 others(66): Show |
a0001a0002a0004others(3): Show | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(7): Show | a0001c0001t0001g0013a0001c0001t0001g0017a0001c0001t0001g0077others(60): Show | 69 | 422 | 0.1635 | -3 | c.128 others(22): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP100_chr3_126389909_126441556 | 126432536 | ATGC | A | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 HG01109.hp2 others(24): Show |
a0001a0005a0009others(1): Show | a0001c0001a0001c0002a0005c0009others(2): Show | a0001c0001t0001a0001c0002t0001a0005c0009t0001others(2): Show | a0001c0001t0001g0013a0001c0001t0001g0017a0001c0001t0001g0038others(22): Show | 27 | 422 | 0.0640 | -3 | c.128 others(20): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
CFAP107_chr1_12741200_12768699 | 12741633 | AATT | A | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00639.hp1 others(20): Show |
a0002 | a0002c0002 | a0002c0002t0003a0002c0002t0042 | a0002c0002t0003g0003a0002c0002t0003g0008a0002c0002t0003g0029others(9): Show | 23 | 336 | 0.0685 | -3 | c.-47 others(14): Show |
CFAP107 | ENSG00000157330.10 | transcript | ENST00000614859.5 | protein_coding | 4566 | chr1 | TogoVar | ||||||
CFAP107_chr1_12741200_12768699 | 12752553 | TCTA | T | intron_variant | MODIFIER | HG00597.hp2 HG01517.hp1 HG02071.hp1 others(20): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0007a0001c0001t0013others(2): Show | a0001c0001t0005g0004a0001c0001t0005g0093a0001c0001t0005g0094others(5): Show | 23 | 336 | 0.0685 | -3 | c.112 others(20): Show |
CFAP107 | ENSG00000157330.10 | transcript | ENST00000614859.5 | protein_coding | 1/3 | chr1 | TogoVar | ||||||
CFAP107_chr1_12741200_12768699 | 12757354 | TTTC | T | intron_variant | MODIFIER | HG01175.hp2 NA19060.hp1 NA19240.hp2 |
a0002a0003 | a0002c0002a0003c0005 | a0002c0002t0003a0003c0005t0023 | a0002c0002t0003g0098a0002c0002t0003g0104a0003c0005t0023g0035 | 3 | 336 | 0.0089 | -3 | c.225 others(20): Show |
CFAP107 | ENSG00000157330.10 | transcript | ENST00000614859.5 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP144_chr1_43142904_43161396 | 43154211 | AATT | A | intron_variant | MODIFIER | HG01884.hp2 HG01975.hp1 HG02055.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0027a0001c0001t0001g0057others(3): Show | 11 | 396 | 0.0278 | -3 | c.297 others(20): Show |
CFAP144 | ENSG00000186973.11 | transcript | ENST00000335282.5 | protein_coding | 3/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
CFAP144_chr1_43142904_43161396 | 43154514 | ACTC | A | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01081.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0029 | 3 | 396 | 0.0076 | -3 | c.297 others(20): Show |
CFAP144 | ENSG00000186973.11 | transcript | ENST00000335282.5 | protein_coding | 3/3 | chr1 | TogoVar | ||||||
CFAP144_chr1_43142904_43161396 | 43160245 | CAAA | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG00735.hp2 others(25): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0010a0001c0001t0001g0040a0001c0001t0001g0108others(8): Show | 28 | 396 | 0.0707 | -3 | c.*39 others(14): Show |
CFAP144 | ENSG00000186973.11 | transcript | ENST00000335282.5 | protein_coding | 3850 | chr1 | TogoVar | ||||||
CFAP157_chr9_127701988_127721002 | 127713496 | CTTT | C | intron_variant | MODIFIER | HG01109.hp2 HG01169.hp1 HG02572.hp1 others(16): Show |
a0001a0002a0007others(1): Show | a0001c0003a0001c0006a0002c0001others(2): Show | a0001c0003t0001a0001c0006t0001a0002c0001t0002others(2): Show | a0001c0003t0001g0009a0001c0003t0001g0033a0001c0006t0001g0013others(6): Show | 19 | 354 | 0.0537 | -3 | c.149 others(20): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
CFAP161_chr15_81129270_81154179 | 81133224 | TGTA | T | upstream_gene_variant | MODIFIER | HG01496.hp1 HG01891.hp2 HG02572.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0010a0001c0001t0002g0006a0001c0001t0002g0078others(2): Show | 5 | 448 | 0.0112 | -3 | c.-11 others(14): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1045 | chr15 | TogoVar | ||||||
CFAP206_chr6_87402972_87469465 | 87415983 | GAAA | G | intron_variant | MODIFIER | HG01358.hp2 HG02257.hp1 HG02559.hp2 others(3): Show |
a0001a0003 | a0001c0007a0003c0004 | a0001c0007t0001a0003c0004t0001 | a0001c0007t0001g0240a0001c0007t0001g0241a0001c0007t0001g0247others(3): Show | 6 | 376 | 0.0160 | -3 | c.472 others(18): Show |
CFAP206 | ENSG00000272514.6 | transcript | ENST00000369562.9 | protein_coding | 5/12 | INFO_REALIGN_3_PRIME | chr6 | TogoVar |