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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
CERS5_chr12_50124289_50172369 | 50148924 | AAAAAT | A | intron_variant | MODIFIER | HG01167.hp2 HG01496.hp2 HG01891.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0005 | a0001c0001t0001g0014 a0001c0001t0001g0015 a0001c0001t0001g0127 others(6): Show |
9 | 320 | 0.0281 | -5 | c.198 others(22): Show |
CERS5 | ENSG00000139624.14 | transcript | ENST00000317551.12 | protein_coding | 1/9 | chr12 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168505382 | CAAAAA | C | intron_variant | MODIFIER | HG00735.hp1 HG01255.hp1 HG02071.hp2 others(21): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0153 others(21): Show |
24 | 176 | 0.1364 | -5 | c.171 others(24): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168520598 | CTTTTT | C | intron_variant | MODIFIER | HG01099.hp2 HG01261.hp1 HG02055.hp1 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(8): Show | a0001c0001t0001g0035 a0001c0001t0002g0036 a0001c0001t0004g0014 others(17): Show |
20 | 176 | 0.1136 | -5 | c.171 others(24): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168556991 | CAAAAA | C | intron_variant | MODIFIER | HG01074.hp2 HG01496.hp2 HG02486.hp2 others(17): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0140 a0001c0001t0001g0175 a0001c0001t0002g0052 others(17): Show |
20 | 176 | 0.1136 | -5 | c.277 others(22): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168645089 | TTAAAA | T | intron_variant | MODIFIER | HG02922.hp2 HG03516.hp2 NA18998.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0006a0001c0001t0008 | a0001c0001t0002g0145 a0001c0001t0006g0032 a0001c0001t0008g0172 |
3 | 176 | 0.0171 | -5 | c.465 others(24): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 4/9 | chr2 | TogoVar | |||||||
CERS6_chr2_168451272_168780134 | 168739052 | ATTTTT | A | intron_variant | MODIFIER | HG00558.hp2 HG00738.hp1 HG01261.hp2 others(6): Show |
a0001a0002 | a0001c0001a0002c0007 | a0001c0001t0002a0001c0001t0005a0002c0007t0005 | a0001c0001t0002g0057 a0001c0001t0002g0141 a0001c0001t0005g0020 others(6): Show |
9 | 176 | 0.0511 | -5 | c.845 others(24): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168741373 | TAAAAA | T | intron_variant | MODIFIER | HG01074.hp1 HG02109.hp2 HG02129.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0175 a0001c0001t0002g0103 a0001c0001t0002g0113 others(6): Show |
9 | 176 | 0.0511 | -5 | c.845 others(24): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 8/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CERS6_chr2_168451272_168780134 | 168776586 | TTAAAA | T | downstream_gene_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00735.hp1 others(18): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0025a0001c0001t0033others(2): Show | a0001c0001t0001g0027 a0001c0001t0001g0035 a0001c0001t0001g0037 others(18): Show |
21 | 176 | 0.1193 | -5 | c.*69 others(16): Show |
CERS6 | ENSG00000172292.15 | transcript | ENST00000305747.11 | protein_coding | 1453 | chr2 | TogoVar | |||||||
CERT1_chr5_75372775_75516629 | 75478909 | TAAAAA | T | intron_variant | MODIFIER | HG00140.hp2 HG00438.hp1 HG00544.hp2 others(53): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004others(1): Show | a0001c0001t0001g0036 a0001c0002t0001g0010 a0001c0002t0001g0011 others(53): Show |
56 | 336 | 0.1667 | -5 | c.232 others(24): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 2/16 | chr5 | TogoVar | |||||||
CERT1_chr5_75372775_75516629 | 75492707 | ATACAG | A | intron_variant | MODIFIER | HG00642.hp1 HG02896.hp1 HG02897.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0172 a0001c0001t0003g0299 a0001c0001t0003g0300 others(6): Show |
9 | 336 | 0.0268 | -5 | c.231 others(24): Show |
CERT1 | ENSG00000113163.19 | transcript | ENST00000643780.2 | protein_coding | 2/16 | chr5 | TogoVar | |||||||
CES1_chr16_55797851_55838096 | 55808314 | TCACAA | T | intron_variant | MODIFIER | HG03209.hp1 HG06807.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0007 a0001c0001t0001g0011 |
2 | 87 | 0.0230 | -5 | c.131 others(24): Show |
CES1 | ENSG00000198848.13 | transcript | ENST00000360526.8 | protein_coding | 11/13 | chr16 | TogoVar | |||||||
CES4A_chr16_66983589_67015417 | 67012634 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG01884.hp2 HG02486.hp2 HG02622.hp1 others(8): Show |
a0002a0003a0008 | a0002c0002a0003c0003a0008c0010 | a0002c0002t0002a0003c0003t0001a0008c0010t0002 | a0002c0002t0002g0018 a0002c0002t0002g0052 a0002c0002t0002g0068 others(6): Show |
11 | 306 | 0.0360 | -5 | c.*34 others(16): Show |
CES4A | ENSG00000172824.17 | transcript | ENST00000648724.3 | protein_coding | 2218 | chr16 | TogoVar | |||||||
CETN3_chr5_90387257_90414756 | 90394876 | GAATAT | G | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00544.hp1 others(55): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0015 | a0002c0002t0001g0002 a0002c0002t0001g0007 a0002c0002t0001g0012 others(12): Show |
58 | 348 | 0.1667 | -5 | c.461 others(20): Show |
CETN3 | ENSG00000153140.9 | transcript | ENST00000283122.8 | protein_coding | 4/4 | chr5 | TogoVar | |||||||
CETN3_chr5_90387257_90414756 | 90403875 | GAAAAA | G | intron_variant | MODIFIER | HG00438.hp1 HG01123.hp1 HG01167.hp1 others(18): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0012 | a0001c0001t0001g0008 a0001c0001t0001g0028 a0001c0001t0001g0034 others(5): Show |
21 | 348 | 0.0603 | -5 | c.268 others(22): Show |
CETN3 | ENSG00000153140.9 | transcript | ENST00000283122.8 | protein_coding | 3/4 | chr5 | TogoVar | |||||||
CETP_chr16_56956950_56988845 | 56958031 | AAAAAG | A | upstream_gene_variant | MODIFIER | HG00609.hp1 HG00733.hp2 HG00735.hp2 others(52): Show |
a0001a0002a0009 | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0002t0002others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0019 a0001c0001t0001g0055 others(32): Show |
55 | 462 | 0.1191 | -5 | c.-39 others(16): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 3918 | chr16 | TogoVar | |||||||
CETP_chr16_56956950_56988845 | 56959862 | AGGGAG | A | upstream_gene_variant | MODIFIER | NA18946.hp2 NA18961.hp1 NA19009.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0004 a0001c0001t0001g0252 a0002c0002t0001g0292 |
3 | 462 | 0.0065 | -5 | c.-21 others(16): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 2087 | chr16 | TogoVar | |||||||
CFAP100_chr3_126389909_126441556 | 126427776 | TTTTAA | T | intron_variant | MODIFIER | HG02572.hp1 HG02647.hp2 HG03516.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0199 a0001c0001t0001g0206 a0001c0002t0001g0202 |
3 | 422 | 0.0071 | -5 | c.128 others(24): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP100_chr3_126389909_126441556 | 126429107 | CAAAAA | C | intron_variant | MODIFIER | HG00733.hp1 HG01109.hp1 HG01346.hp2 others(13): Show |
a0001a0005a0006others(2): Show | a0001c0001a0001c0002a0005c0009others(4): Show | a0001c0001t0002a0001c0002t0001a0005c0009t0002others(4): Show | a0001c0001t0002g0198 a0001c0001t0002g0248 a0001c0001t0002g0249 others(13): Show |
16 | 422 | 0.0379 | -5 | c.128 others(24): Show |
CFAP100 | ENSG00000163885.12 | transcript | ENST00000352312.6 | protein_coding | 13/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CFAP107_chr1_12741200_12768699 | 12753160 | GGAGAT | G | intron_variant | MODIFIER | HG02523.hp1 NA18967.hp2 NA18986.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0112 |
3 | 336 | 0.0089 | -5 | c.112 others(22): Show |
CFAP107 | ENSG00000157330.10 | transcript | ENST00000614859.5 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CFAP126_chr1_161359733_161372876 | 161371693 | TGTGGG | T | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02970.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0004 | 3 | 350 | 0.0086 | -5 | c.-38 others(16): Show |
CFAP126 | ENSG00000188931.4 | transcript | ENST00000367974.2 | protein_coding | 3818 | chr1 | TogoVar | |||||||
CFAP144_chr1_43142904_43161396 | 43160297 | AAAACT | A | downstream_gene_variant | MODIFIER | HG00408.hp2 HG00438.hp2 HG00597.hp2 others(21): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002 a0001c0001t0001g0011 a0001c0001t0001g0012 others(7): Show |
24 | 396 | 0.0606 | -5 | c.*39 others(16): Show |
CFAP144 | ENSG00000186973.11 | transcript | ENST00000335282.5 | protein_coding | 3902 | chr1 | TogoVar | |||||||
CFAP157_chr9_127701988_127721002 | 127708612 | CTGAGA | C | intron_variant | MODIFIER | HG02135.hp1 HG02155.hp2 HG02165.hp1 others(9): Show |
a0003 | a0003c0004 | a0003c0004t0001a0003c0004t0005a0003c0004t0007 | a0003c0004t0001g0014 a0003c0004t0001g0018 a0003c0004t0001g0019 others(6): Show |
12 | 354 | 0.0339 | -5 | c.162 others(20): Show |
CFAP157 | ENSG00000160401.15 | transcript | ENST00000373295.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CFAP161_chr15_81129270_81154179 | 81133222 | TATGTA | T | upstream_gene_variant | MODIFIER | HG02965.hp1 HG03130.hp2 NA18906.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0010 a0001c0001t0002g0006 a0001c0001t0003g0012 others(1): Show |
4 | 448 | 0.0089 | -5 | c.-11 others(16): Show |
CFAP161 | ENSG00000156206.14 | transcript | ENST00000286732.5 | protein_coding | 1047 | chr15 | TogoVar | |||||||
CFAP20DC_chr3_58737008_59055025 | 59054389 | CTTAAT | C | upstream_gene_variant | MODIFIER | HG01099.hp1 HG01346.hp2 HG03710.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0185 a0001c0001t0001g0186 a0001c0001t0001g0187 |
3 | 204 | 0.0147 | -5 | c.-47 others(16): Show |
CFAP20DC | ENSG00000163689.21 | transcript | ENST00000482387.7 | protein_coding | 4365 | chr3 | TogoVar | |||||||
CFAP20_chr16_58108592_58134381 | 58132698 | CAAAAA | C | upstream_gene_variant | MODIFIER | HG00099.hp1 HG01081.hp2 HG01099.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0080 a0001c0001t0001g0109 a0001c0001t0002g0013 others(2): Show |
6 | 400 | 0.0150 | -5 | c.-35 others(16): Show |
CFAP20 | ENSG00000070761.8 | transcript | ENST00000262498.8 | protein_coding | 3318 | chr16 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169642921 | TAAATA | T | downstream_gene_variant | MODIFIER | HG00438.hp1 HG00621.hp1 HG00733.hp1 others(23): Show |
a0001a0011 | a0001c0001a0011c0015 | a0001c0001t0003a0011c0015t0003 | a0001c0001t0003g0092 a0001c0001t0003g0103 a0001c0001t0003g0104 others(23): Show |
26 | 390 | 0.0667 | -5 | c.*29 others(16): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 2503 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169643740 | GAAAAA | G | downstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00323.hp1 others(94): Show |
a0001a0003a0004others(6): Show | a0001c0001a0001c0007a0001c0008others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0136 a0001c0001t0001g0292 a0001c0001t0001g0293 others(90): Show |
97 | 390 | 0.2487 | -5 | c.*20 others(16): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 1684 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169648446 | TTTATG | T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(133): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0007a0001c0008others(9): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(11): Show | a0001c0001t0001g0136 a0001c0001t0001g0287 a0001c0001t0001g0288 others(127): Show |
136 | 390 | 0.3487 | -5 | c.131 others(22): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 8/8 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169653028 | AAATAT | A | intron_variant | MODIFIER | HG01109.hp1 HG01358.hp2 HG02735.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0151 a0001c0001t0001g0155 a0001c0001t0001g0158 others(6): Show |
9 | 390 | 0.0231 | -5 | c.959 others(22): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169653030 | ATATAT | A | intron_variant | MODIFIER | HG00099.hp2 HG01074.hp1 HG01192.hp2 others(21): Show |
a0001a0004a0009 | a0001c0001a0004c0004a0009c0011 | a0001c0001t0001a0004c0004t0002a0009c0011t0001 | a0001c0001t0001g0003 a0001c0001t0001g0011 a0001c0001t0001g0137 others(18): Show |
24 | 390 | 0.0615 | -5 | c.959 others(22): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 6/8 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169654516 | AATAAT | A | intron_variant | MODIFIER | HG01891.hp2 NA18906.hp2 NA19030.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0287 a0001c0001t0001g0292 a0001c0001t0001g0293 others(2): Show |
5 | 390 | 0.0128 | -5 | c.820 others(20): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 5/8 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169666919 | ATCCAT | A | intron_variant | MODIFIER | HG02451.hp1 HG02717.hp1 HG02965.hp1 others(1): Show |
a0001a0008 | a0001c0001a0008c0010 | a0001c0001t0001a0008c0010t0001 | a0001c0001t0001g0297 a0001c0001t0001g0298 a0008c0010t0001g0299 others(1): Show |
4 | 390 | 0.0103 | -5 | c.663 others(22): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 4/8 | chr2 | TogoVar | |||||||
CFAP210_chr2_169640425_169699405 | 169678341 | CAAAAA | C | intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG02615.hp2 others(8): Show |
a0001a0003a0006 | a0001c0001a0003c0003a0006c0006 | a0001c0001t0002a0003c0003t0002a0006c0006t0002 | a0001c0001t0002g0096 a0001c0001t0002g0097 a0001c0001t0002g0098 others(7): Show |
11 | 390 | 0.0282 | -5 | c.294 others(22): Show |
CFAP210 | ENSG00000154479.13 | transcript | ENST00000447353.6 | protein_coding | 2/8 | chr2 | TogoVar | |||||||
CFAP251_chr12_121913592_122008919 | 121922769 | GTTCTT | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00323.hp1 others(149): Show |
a0001a0005a0012 | a0001c0003a0001c0004a0001c0005others(10): Show | a0001c0003t0001a0001c0004t0001a0001c0005t0001others(11): Show | a0001c0003t0001g0057 a0001c0003t0001g0087 a0001c0003t0001g0088 others(148): Show |
152 | 354 | 0.4294 | -5 | c.379 others(20): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 2/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121945327 | GTTTTC | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp2 others(28): Show |
a0001a0003 | a0001c0003a0001c0016a0003c0002 | a0001c0003t0001a0001c0016t0001a0003c0002t0001 | a0001c0003t0001g0087 a0001c0003t0001g0088 a0001c0003t0001g0089 others(28): Show |
31 | 354 | 0.0876 | -5 | c.119 others(24): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 7/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP251_chr12_121913592_122008919 | 121978393 | CAAAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00408.hp1 others(89): Show |
a0001a0002a0013others(3): Show | a0001c0003a0002c0001a0002c0026others(4): Show | a0001c0003t0001a0002c0001t0001a0002c0026t0001others(4): Show | a0001c0003t0001g0271 a0002c0001t0001g0001 a0002c0001t0001g0111 others(88): Show |
92 | 354 | 0.2599 | -5 | c.300 others(24): Show |
CFAP251 | ENSG00000158023.10 | transcript | ENST00000288912.9 | protein_coding | 19/21 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CFAP276_chr1_109100951_109117747 | 109109533 | CTTTTT | C | intron_variant | MODIFIER | HG00323.hp1 HG00639.hp1 HG02818.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0052 a0001c0001t0001g0062 others(2): Show |
7 | 404 | 0.0173 | -5 | c.82- others(20): Show |
CFAP276 | ENSG00000179902.13 | transcript | ENST00000369948.8 | protein_coding | 1/4 | chr1 | TogoVar | |||||||
CFAP298_chr21_32594354_32617377 | 32605096 | TTGAGC | T | intron_variant | MODIFIER | HG02809.hp1 HG02922.hp1 HG02976.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0008a0001c0001t0037 | a0001c0001t0008g0187 a0001c0001t0008g0188 a0001c0001t0008g0196 others(1): Show |
4 | 416 | 0.0096 | -5 | c.376 others(20): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 3/6 | chr21 | TogoVar | |||||||
CFAP298_chr21_32594354_32617377 | 32610824 | TAATAA | T | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02970.hp2 |
a0001 | a0001c0002 | a0001c0002t0022a0001c0002t0040 | a0001c0002t0022g0216 a0001c0002t0022g0218 a0001c0002t0040g0217 |
3 | 416 | 0.0072 | -5 | c.140 others(20): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 1/6 | chr21 | TogoVar | |||||||
CFAP299_chr4_80330730_80968750 | 80336567 | CCCCCG | C | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00639.hp2 others(37): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(4): Show | a0001c0001t0001a0001c0003t0001a0001c0003t0002others(5): Show | a0001c0001t0001g0054 a0001c0001t0001g0055 a0001c0001t0001g0056 others(37): Show |
40 | 96 | 0.4167 | -5 | c.111 others(20): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80418439 | GATTAA | G | intron_variant | MODIFIER | HG01109.hp2 HG02486.hp1 HG02922.hp1 others(1): Show |
a0001 | a0001c0003a0001c0009 | a0001c0003t0001a0001c0003t0002a0001c0009t0002 | a0001c0003t0001g0035 a0001c0003t0002g0036 a0001c0003t0002g0037 others(1): Show |
4 | 96 | 0.0417 | -5 | c.242 others(24): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80493759 | CTTTTT | C | intron_variant | MODIFIER | HG01168.hp2 HG02897.hp2 HG02976.hp1 others(4): Show |
a0001a0002 | a0001c0004a0002c0002a0002c0005 | a0001c0004t0001a0002c0002t0001a0002c0005t0001 | a0001c0004t0001g0061 a0001c0004t0001g0066 a0002c0002t0001g0067 others(4): Show |
7 | 96 | 0.0729 | -5 | c.243 others(24): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80527026 | TATCTA | T | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00639.hp1 others(16): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(2): Show | a0001c0001t0001g0039 a0001c0001t0001g0040 a0001c0001t0001g0041 others(16): Show |
19 | 96 | 0.1979 | -5 | c.243 others(24): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80576196 | AAATAT | A | intron_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00639.hp2 others(27): Show |
a0001a0002 | a0001c0001a0001c0003a0002c0002others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(3): Show | a0001c0001t0001g0019 a0001c0001t0001g0023 a0001c0001t0001g0054 others(27): Show |
30 | 96 | 0.3125 | -5 | c.243 others(22): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80669104 | TTTTTC | T | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00597.hp2 others(45): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(8): Show | a0001c0001t0001g0010 a0001c0001t0001g0011 a0001c0001t0001g0018 others(45): Show |
48 | 96 | 0.5000 | -5 | c.333 others(24): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80675729 | CTCAAG | C | intron_variant | MODIFIER | HG01109.hp2 HG03017.hp2 |
a0001a0002 | a0001c0003a0002c0002 | a0001c0003t0001a0002c0002t0001 | a0001c0003t0001g0035 a0002c0002t0001g0001 |
2 | 96 | 0.0208 | -5 | c.333 others(24): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80685700 | GTTAGT | G | intron_variant | MODIFIER | HG00408.hp2 HG00642.hp1 HG02040.hp1 others(15): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0009others(1): Show | a0001c0001t0001a0001c0003t0002a0001c0009t0002others(1): Show | a0001c0001t0001g0004 a0001c0001t0001g0007 a0001c0001t0001g0009 others(15): Show |
18 | 96 | 0.1875 | -5 | c.333 others(26): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80799489 | TATATA | T | intron_variant | MODIFIER | HG02922.hp1 HG06807.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0001a0001c0009t0002 | a0001c0001t0001g0018 a0001c0009t0002g0015 |
2 | 96 | 0.0208 | -5 | c.334 others(24): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80800102 | ATATAT | A | intron_variant | MODIFIER | HG00408.hp1 HG00597.hp2 HG00639.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0040 a0001c0001t0001g0041 a0001c0001t0001g0042 others(4): Show |
7 | 96 | 0.0729 | -5 | c.334 others(24): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
CFAP299_chr4_80330730_80968750 | 80800173 | TATATA | T | intron_variant | MODIFIER | HG02965.hp2 HG03139.hp2 |
a0001a0002 | a0001c0003a0002c0006 | a0001c0003t0002a0002c0006t0001 | a0001c0003t0002g0092 a0002c0006t0001g0088 |
2 | 96 | 0.0208 | -5 | c.334 others(24): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar |