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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C2orf92_chr2_97664713_97708066 | 97701888 | TGTCTACA others(5): Show |
T | intron_variant | MODIFIER | HG02723.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0104 | 1 | 310 | 0.0032 | -12 | c.665 others(27): Show |
C2orf92 | ENSG00000228486.11 | transcript | ENST00000627399.4 | protein_coding | 7/7 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
C3_chr19_6672704_6725650 | 6691989 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01891.hp2 HG02004.hp2 HG02818.hp1 others(1): Show |
a0001a0031 | a0001c0005a0001c0063a0001c0066others(1): Show | a0001c0005t0001a0001c0063t0004a0001c0066t0002others(1): Show | a0001c0005t0001g0037 a0001c0063t0004g0362 a0001c0066t0002g0025 others(1): Show |
4 | 370 | 0.0108 | -12 | c.339 others(29): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 26/40 | chr19 | TogoVar | |||||||
C3_chr19_6672704_6725650 | 6697989 | TTTATTAT others(5): Show |
T | intron_variant | MODIFIER | HG00140.hp2 HG00423.hp2 HG00438.hp2 others(145): Show |
a0001a0002a0003others(17): Show | a0001c0001a0001c0002a0001c0003others(40): Show | a0001c0001t0001a0001c0002t0001a0001c0003t0001others(41): Show | a0001c0001t0001g0001 a0001c0001t0001g0007 a0001c0001t0001g0027 others(140): Show |
148 | 370 | 0.4000 | -12 | c.244 others(29): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 19/40 | chr19 | TogoVar | |||||||
C3_chr19_6672704_6725650 | 6700525 | AATATGAT others(5): Show |
A | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0011 | a0001c0011t0001 | a0001c0011t0001g0343 | 1 | 370 | 0.0027 | -12 | c.244 others(31): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 19/40 | chr19 | TogoVar | |||||||
C3_chr19_6672704_6725650 | 6717454 | TGGTTGTG others(5): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00558.hp2 HG01099.hp1 others(13): Show |
a0001a0005 | a0001c0001a0001c0006a0001c0007others(4): Show | a0001c0001t0001a0001c0006t0001a0001c0007t0001others(4): Show | a0001c0001t0001g0227 a0001c0001t0001g0228 a0001c0001t0001g0229 others(13): Show |
16 | 370 | 0.0432 | -12 | c.504 others(27): Show |
C3 | ENSG00000125730.18 | transcript | ENST00000245907.11 | protein_coding | 4/40 | chr19 | TogoVar | |||||||
C3orf18_chr3_50553025_50572747 | 50556555 | AGTGTGTG others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00423.hp1 HG00741.hp2 HG01074.hp1 others(29): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0004a0002c0002t0001 | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0009 others(6): Show |
32 | 382 | 0.0838 | -12 | c.*30 others(23): Show |
C3orf18 | ENSG00000088543.15 | transcript | ENST00000357203.8 | protein_coding | 1469 | chr3 | TogoVar | |||||||
C3orf20_chr3_14670141_14778036 | 14720533 | GGTTGTTG others(5): Show |
G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp2 others(89): Show |
a0001a0003a0004others(10): Show | a0001c0001a0001c0024a0001c0025others(12): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(15): Show | a0001c0001t0001g0007 a0001c0001t0001g0112 a0001c0001t0001g0240 others(88): Show |
92 | 380 | 0.2421 | -12 | c.143 others(31): Show |
C3orf20 | ENSG00000131379.10 | transcript | ENST00000253697.8 | protein_coding | 9/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
C3orf33_chr3_155757617_155811278 | 155771017 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG00558.hp1 NA18961.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0279 a0001c0001t0001g0296 |
2 | 406 | 0.0049 | -12 | c.323 others(29): Show |
C3orf33 | ENSG00000174928.16 | transcript | ENST00000340171.7 | protein_coding | 3/4 | chr3 | TogoVar | |||||||
C3orf33_chr3_155757617_155811278 | 155772772 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG03942.hp2 HG04228.hp1 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0039 a0001c0002t0002g0040 |
2 | 406 | 0.0049 | -12 | c.322 others(29): Show |
C3orf33 | ENSG00000174928.16 | transcript | ENST00000340171.7 | protein_coding | 3/4 | chr3 | TogoVar | |||||||
C3orf33_chr3_155757617_155811278 | 155800610 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG02071.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0075 | 1 | 406 | 0.0025 | -12 | c.174 others(29): Show |
C3orf33 | ENSG00000174928.16 | transcript | ENST00000340171.7 | protein_coding | 2/4 | chr3 | TogoVar | |||||||
C3orf49_chr3_63814299_63853636 | 63817413 | CTGGTGTC others(5): Show |
C | upstream_gene_variant | MODIFIER | HG01070.hp1 HG01175.hp2 HG01192.hp2 others(27): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(2): Show | a0001c0001t0001g0118 a0001c0001t0001g0120 a0001c0001t0001g0121 others(21): Show |
30 | 388 | 0.0773 | -12 | c.-20 others(23): Show |
C3orf49 | ENSG00000163632.15 | transcript | ENST00000295896.13 | protein_coding | 1885 | chr3 | TogoVar | |||||||
C3orf49_chr3_63814299_63853636 | 63823766 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG01168.hp2 HG01169.hp2 HG03195.hp2 others(2): Show |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0051 a0001c0001t0001g0202 a0003c0003t0001g0052 |
5 | 388 | 0.0129 | -12 | c.445 others(27): Show |
C3orf49 | ENSG00000163632.15 | transcript | ENST00000295896.13 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
C3orf52_chr3_112081389_112123210 | 112081437 | CAATAAAT others(5): Show |
C | upstream_gene_variant | MODIFIER | NA18960.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 372 | 0.0027 | -12 | c.-49 others(23): Show |
C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 4951 | chr3 | TogoVar | |||||||
C3orf52_chr3_112081389_112123210 | 112085549 | TTGTGTGT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(167): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0004a0001c0014others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(11): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0005 others(86): Show |
170 | 372 | 0.4570 | -12 | c.-85 others(21): Show |
C3orf52 | ENSG00000114529.13 | transcript | ENST00000264848.10 | protein_coding | 839 | chr3 | TogoVar | |||||||
C3orf62_chr3_49263596_49282232 | 49266940 | CTTGTTTC others(5): Show |
C | downstream_gene_variant | MODIFIER | NA18973.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0070 | 1 | 326 | 0.0031 | -12 | c.*42 others(23): Show |
C3orf62 | ENSG00000188315.8 | transcript | ENST00000343010.8 | protein_coding | 1655 | chr3 | TogoVar | |||||||
C3orf62_chr3_49263596_49282232 | 49275519 | GTTTTTTT others(5): Show |
G | intron_variant | MODIFIER | HG02717.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0120 | 1 | 326 | 0.0031 | -12 | c.446 others(27): Show |
C3orf62 | ENSG00000188315.8 | transcript | ENST00000343010.8 | protein_coding | 1/2 | chr3 | TogoVar | |||||||
C3orf62_chr3_49263596_49282232 | 49281491 | TACACACA others(5): Show |
T | upstream_gene_variant | MODIFIER | NA19065.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 326 | 0.0031 | -12 | c.-46 others(23): Show |
C3orf62 | ENSG00000188315.8 | transcript | ENST00000343010.8 | protein_coding | 4260 | chr3 | TogoVar | |||||||
C3orf70_chr3_185071838_185158060 | 185072462 | GTTTTTTT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG00735.hp1 HG03041.hp2 HG03195.hp2 others(3): Show |
a0001a0003 | a0001c0001a0003c0004 | a0001c0001t0037a0001c0001t0121a0003c0004t0027 | a0001c0001t0037g0352 a0001c0001t0037g0353 a0001c0001t0121g0148 others(3): Show |
6 | 388 | 0.0155 | -12 | c.*10 others(25): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 4375 | chr3 | TogoVar | |||||||
C3orf70_chr3_185071838_185158060 | 185091953 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG04184.hp1 | a0001 | a0001c0001 | a0001c0001t0030 | a0001c0001t0030g0004 | 1 | 388 | 0.0026 | -12 | c.197 others(29): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
C3orf70_chr3_185071838_185158060 | 185125384 | AAACAACA others(5): Show |
A | intron_variant | MODIFIER | HG00741.hp2 HG03491.hp1 HG03942.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0003a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0003g0334 a0001c0001t0004g0268 a0001c0001t0006g0122 others(2): Show |
5 | 388 | 0.0129 | -12 | c.196 others(31): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
C3orf70_chr3_185071838_185158060 | 185136909 | AAACAACA others(5): Show |
A | intron_variant | MODIFIER | HG01074.hp1 HG01358.hp1 NA18953.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0018a0001c0001t0062 | a0001c0001t0001g0190 a0001c0001t0001g0236 a0001c0001t0018g0323 others(1): Show |
4 | 388 | 0.0103 | -12 | c.196 others(31): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
C3orf70_chr3_185071838_185158060 | 185141801 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02809.hp2 HG03486.hp2 others(1): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0049a0001c0001t0050a0001c0001t0051others(1): Show | a0001c0001t0049g0150 a0001c0001t0050g0151 a0001c0001t0051g0147 others(1): Show |
4 | 388 | 0.0103 | -12 | c.196 others(31): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
C3orf70_chr3_185071838_185158060 | 185143981 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02647.hp2 | a0002 | a0002c0002 | a0002c0002t0140 | a0002c0002t0140g0376 | 1 | 388 | 0.0026 | -12 | c.196 others(29): Show |
C3orf70 | ENSG00000187068.3 | transcript | ENST00000335012.3 | protein_coding | 1/1 | chr3 | TogoVar | |||||||
C3orf85_chr3_109131719_109156401 | 109137637 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | NA18989.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0097 | 1 | 370 | 0.0027 | -12 | c.49+ others(25): Show |
C3orf85 | ENSG00000241224.8 | transcript | ENST00000622536.6 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
C4A_chr6_31977057_32007681 | 31979223 | AAGGAAGG others(5): Show |
A | upstream_gene_variant | MODIFIER | HG02895.hp2 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0006 | 1 | 322 | 0.0031 | -12 | c.-28 others(23): Show |
C4A | ENSG00000244731.10 | transcript | ENST00000428956.7 | protein_coding | 2833 | chr6 | TogoVar | |||||||
C4BPA_chr1_207099233_207149972 | 207100053 | CATGTGTG others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01169.hp1 HG01884.hp2 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0006a0002c0003others(2): Show | a0001c0001t0001a0001c0006t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0004 a0001c0001t0001g0023 a0001c0001t0001g0060 others(10): Show |
16 | 342 | 0.0468 | -12 | c.-44 others(23): Show |
C4BPA | ENSG00000123838.11 | transcript | ENST00000367070.8 | protein_coding | 4179 | chr1 | TogoVar | |||||||
C4BPA_chr1_207099233_207149972 | 207100082 | GTGTGTGT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02257.hp1 others(18): Show |
a0001a0002a0005 | a0001c0001a0001c0004a0002c0002others(1): Show | a0001c0001t0001a0001c0004t0001a0002c0002t0001others(1): Show | a0001c0001t0001g0024 a0001c0001t0001g0274 a0001c0001t0001g0277 others(17): Show |
21 | 342 | 0.0614 | -12 | c.-43 others(23): Show |
C4BPA | ENSG00000123838.11 | transcript | ENST00000367070.8 | protein_coding | 4150 | chr1 | TogoVar | |||||||
C4BPA_chr1_207099233_207149972 | 207116504 | GTGTGTGT others(5): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp1 HG00735.hp2 others(15): Show |
a0001a0002a0005 | a0001c0001a0001c0020a0002c0002others(1): Show | a0001c0001t0001a0001c0020t0004a0002c0002t0001others(1): Show | a0001c0001t0001g0045 a0001c0001t0001g0046 a0001c0001t0001g0080 others(15): Show |
18 | 342 | 0.0526 | -12 | c.428 others(28): Show |
C4BPA | ENSG00000123838.11 | transcript | ENST00000367070.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C4BPA_chr1_207099233_207149972 | 207116516 | ATGTGTGT others(5): Show |
A | intron_variant | MODIFIER | HG00735.hp1 HG01169.hp1 HG02922.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0269 |
3 | 342 | 0.0088 | -12 | c.428 others(29): Show |
C4BPA | ENSG00000123838.11 | transcript | ENST00000367070.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C4BPA_chr1_207099233_207149972 | 207118133 | ATCTGTCT others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0037 | 1 | 342 | 0.0029 | -12 | c.428 others(29): Show |
C4BPA | ENSG00000123838.11 | transcript | ENST00000367070.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C4BPA_chr1_207099233_207149972 | 207118157 | GTCTGTCT others(5): Show |
G | intron_variant | MODIFIER | HG02630.hp1 HG02886.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0031 a0001c0001t0001g0032 |
2 | 342 | 0.0059 | -12 | c.428 others(29): Show |
C4BPA | ENSG00000123838.11 | transcript | ENST00000367070.8 | protein_coding | 4/11 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C4BPB_chr1_207083860_207104993 | 207100053 | CATGTGTG others(5): Show |
C | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01167.hp1 HG01169.hp1 others(18): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0002t0001a0002c0004t0001 | a0001c0001t0001g0079 a0001c0002t0001g0005 a0001c0002t0001g0009 others(9): Show |
21 | 388 | 0.0541 | -12 | c.*12 others(21): Show |
C4BPB | ENSG00000123843.13 | transcript | ENST00000367078.8 | protein_coding | 61 | chr1 | TogoVar | |||||||
C4BPB_chr1_207083860_207104993 | 207100082 | GTGTGTGT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG01109.hp1 HG01167.hp2 HG02055.hp1 others(19): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0001a0001c0003t0001 | a0001c0002t0001g0015 a0001c0002t0001g0016 a0001c0002t0001g0018 others(5): Show |
22 | 388 | 0.0567 | -12 | c.*15 others(21): Show |
C4BPB | ENSG00000123843.13 | transcript | ENST00000367078.8 | protein_coding | 90 | chr1 | TogoVar | |||||||
C4orf17_chr4_99506021_99547303 | 99506384 | TCTCCCTT others(5): Show |
T | upstream_gene_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01243.hp1 others(34): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0003a0002c0004others(5): Show | a0001c0001t0001a0002c0003t0001a0002c0004t0001others(5): Show | a0001c0001t0001g0014 a0001c0001t0001g0094 a0001c0001t0001g0108 others(31): Show |
37 | 386 | 0.0959 | -12 | c.-49 others(23): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 4636 | chr4 | TogoVar | |||||||
C4orf17_chr4_99506021_99547303 | 99506652 | GTCTTTCT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00733.hp1 HG02040.hp1 NA18963.hp1 |
a0001a0003a0004 | a0001c0001a0003c0002a0004c0005 | a0001c0001t0001a0003c0002t0001a0004c0005t0001 | a0001c0001t0001g0233 a0003c0002t0001g0022 a0004c0005t0001g0048 |
3 | 386 | 0.0078 | -12 | c.-47 others(23): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 4368 | chr4 | TogoVar | |||||||
C4orf17_chr4_99506021_99547303 | 99518485 | TAAAAAAA others(5): Show |
T | intron_variant | MODIFIER | HG02257.hp2 HG02280.hp1 HG02615.hp1 others(2): Show |
a0001a0002a0005 | a0001c0001a0002c0004a0005c0006 | a0001c0001t0001a0002c0004t0001a0005c0006t0001 | a0001c0001t0001g0087 a0002c0004t0001g0063 a0002c0004t0001g0325 others(2): Show |
5 | 386 | 0.0130 | -12 | c.128 others(29): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf17_chr4_99506021_99547303 | 99518508 | AAAAAAAA others(5): Show |
A | intron_variant | MODIFIER | HG02897.hp1 HG03486.hp2 |
a0002a0005 | a0002c0004a0005c0006 | a0002c0004t0001a0005c0006t0001 | a0002c0004t0001g0263 a0005c0006t0001g0061 |
2 | 386 | 0.0052 | -12 | c.128 others(29): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf17_chr4_99506021_99547303 | 99518544 | TAGAGAGA others(5): Show |
T | intron_variant | MODIFIER | HG00408.hp1 HG02145.hp1 HG02257.hp2 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0004a0004c0005 | a0001c0001t0001a0002c0004t0001a0004c0005t0001 | a0001c0001t0001g0017 a0001c0001t0001g0069 a0001c0001t0001g0326 others(2): Show |
6 | 386 | 0.0155 | -12 | c.128 others(29): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf17_chr4_99506021_99547303 | 99518577 | AGAGAGAG others(5): Show |
A | intron_variant | MODIFIER | NA18941.hp1 | a0002 | a0002c0003 | a0002c0003t0001 | a0002c0003t0001g0322 | 1 | 386 | 0.0026 | -12 | c.128 others(29): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf17_chr4_99506021_99547303 | 99522357 | TTGGTTTA others(5): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00621.hp1 HG01070.hp2 others(41): Show |
a0002 | a0002c0003a0002c0007 | a0002c0003t0001a0002c0007t0001 | a0002c0003t0001g0007 a0002c0003t0001g0031 a0002c0003t0001g0064 others(38): Show |
44 | 386 | 0.1140 | -12 | c.128 others(27): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf17_chr4_99506021_99547303 | 99529881 | TCAGGGAT others(5): Show |
T | disruptive_inframe_deletion | MODERATE | HG01884.hp2 HG01975.hp2 HG02258.hp1 others(15): Show |
a0005 | a0005c0006 | a0005c0006t0001 | a0005c0006t0001g0029 a0005c0006t0001g0030 a0005c0006t0001g0061 others(13): Show |
18 | 386 | 0.0466 | -12 | c.470 others(19): Show |
p.Ser others(19): Show |
C4orf17 | ENSG00000138813.10 | transcript | ENST00000326581.9 | protein_coding | 5/9 | 815/1619 | 470/1080 | 157/359 | chr4 | TogoVar | |||
C4orf19_chr4_37448925_37598510 | 37481464 | CAAAAAAA others(5): Show |
C | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00544.hp2 others(71): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0040 a0001c0001t0001g0044 a0001c0001t0001g0059 others(69): Show |
74 | 354 | 0.2090 | -12 | c.-73 others(31): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37506548 | GTATTGTT others(5): Show |
G | intron_variant | MODIFIER | HG02080.hp2 HG02523.hp1 HG03834.hp1 others(13): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0007others(5): Show | a0001c0001t0001g0079 a0001c0001t0001g0096 a0001c0001t0001g0124 others(13): Show |
16 | 354 | 0.0452 | -12 | c.-72 others(31): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37544728 | CTTGGGGT others(5): Show |
C | intron_variant | MODIFIER | HG03471.hp2 HG03540.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0022 | a0001c0001t0005g0007 a0001c0001t0022g0031 a0001c0001t0022g0264 |
3 | 354 | 0.0085 | -12 | c.-72 others(31): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37551508 | CTCAGATA others(5): Show |
C | intron_variant | MODIFIER | NA18987.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0151 | 1 | 354 | 0.0028 | -12 | c.-72 others(29): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37557049 | CAGTCTAC others(5): Show |
C | intron_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0231 | 1 | 354 | 0.0028 | -12 | c.-72 others(27): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37564973 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp2 HG02922.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0009a0001c0001t0027 | a0001c0001t0009g0001 a0001c0001t0009g0181 a0001c0001t0009g0348 others(3): Show |
7 | 354 | 0.0198 | -12 | c.-23 others(29): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf19_chr4_37448925_37598510 | 37584576 | CAAATGAT others(5): Show |
C | intron_variant | MODIFIER | HG03486.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0045 | 1 | 354 | 0.0028 | -12 | c.-22 others(29): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37585379 | TTGAGGGA others(5): Show |
T | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 1 | 354 | 0.0028 | -12 | c.-22 others(29): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 2/3 | chr4 | TogoVar | |||||||
C4orf19_chr4_37448925_37598510 | 37596734 | ATATTTTT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0001 | a0001c0001t0027 | a0001c0001t0027g0278 | 1 | 354 | 0.0028 | -12 | c.*57 others(23): Show |
C4orf19 | ENSG00000154274.15 | transcript | ENST00000381980.9 | protein_coding | 3225 | chr4 | TogoVar |