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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C1orf21_chr1_184382029_184634019 | 184484884 | CTGTGTGT others(5): Show |
C | intron_variant | MODIFIER | HG01192.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0090 | 1 | 232 | 0.0043 | -12 | c.94+ others(27): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf21_chr1_184382029_184634019 | 184548214 | AACACACA others(5): Show |
A | intron_variant | MODIFIER | HG02486.hp2 HG02976.hp1 HG03579.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0070a0001c0001t0001g0191a0001c0001t0001g0211others(2): Show | 5 | 232 | 0.0216 | -12 | c.189 others(31): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf21_chr1_184382029_184634019 | 184559505 | CCCTTCCT others(5): Show |
C | intron_variant | MODIFIER | HG02145.hp2 HG02895.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0019a0001c0001t0026a0001c0001t0038others(1): Show | a0001c0001t0019g0096a0001c0001t0019g0146a0001c0001t0026g0051others(2): Show | 5 | 232 | 0.0216 | -12 | c.190 others(31): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf21_chr1_184382029_184634019 | 184587524 | TTGTGTGT others(5): Show |
T | intron_variant | MODIFIER | HG00741.hp2 HG01069.hp2 HG01109.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(12): Show | a0001c0001t0001g0015a0001c0001t0001g0171a0001c0001t0001g0191others(23): Show | 26 | 232 | 0.1121 | -12 | c.190 others(29): Show |
C1orf21 | ENSG00000116667.15 | transcript | ENST00000235307.7 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf232_chr1_26159101_26173963 | 26160081 | GTTCTTTT others(5): Show |
G | downstream_gene_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG00741.hp2 others(15): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0001a0001c0001t0001g0031a0002c0002t0001g0003others(1): Show | 18 | 400 | 0.0450 | -12 | c.*40 others(23): Show |
C1orf232 | ENSG00000282872.2 | transcript | ENST00000634842.2 | protein_coding | 4019 | chr1 | TogoVar | ||||||
C1orf43_chr1_154201720_154225590 | 154203172 | AATATATA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00735.hp2 HG01109.hp2 HG01361.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005 | a0001c0001t0001g0001a0001c0001t0001g0021a0001c0001t0001g0029others(9): Show | 14 | 374 | 0.0374 | -12 | c.*42 others(23): Show |
C1orf43 | ENSG00000143612.21 | transcript | ENST00000368521.10 | protein_coding | 3547 | chr1 | TogoVar | ||||||
C1orf43_chr1_154201720_154225590 | 154211321 | ATTCTTTT others(5): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0154 | 1 | 374 | 0.0027 | -12 | c.566 others(27): Show |
C1orf43 | ENSG00000143612.21 | transcript | ENST00000368521.10 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
C1orf43_chr1_154201720_154225590 | 154211324 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG03098.hp1 HG03453.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0037 | 2 | 374 | 0.0054 | -12 | c.566 others(27): Show |
C1orf43 | ENSG00000143612.21 | transcript | ENST00000368521.10 | protein_coding | 6/6 | chr1 | TogoVar | ||||||
C1orf87_chr1_59985394_60078770 | 59988343 | GACACACA others(5): Show |
G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG00735.hp2 others(17): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0002c0002t0001a0002c0005t0001 | a0001c0001t0001g0339a0002c0002t0001g0002a0002c0002t0001g0045others(13): Show | 20 | 382 | 0.0524 | -12 | c.*23 others(23): Show |
C1orf87 | ENSG00000162598.13 | transcript | ENST00000371201.3 | protein_coding | 2050 | chr1 | TogoVar | ||||||
C1orf87_chr1_59985394_60078770 | 59992224 | CTATTTAT others(5): Show |
C | intron_variant | MODIFIER | HG02922.hp1 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0148 | 1 | 382 | 0.0026 | -12 | c.148 others(31): Show |
C1orf87 | ENSG00000162598.13 | transcript | ENST00000371201.3 | protein_coding | 11/11 | chr1 | TogoVar | ||||||
C1orf87_chr1_59985394_60078770 | 60010873 | TATAAATA others(5): Show |
T | intron_variant | MODIFIER | HG02145.hp1 HG02809.hp1 HG03195.hp1 others(2): Show |
a0001a0011 | a0001c0001a0011c0020 | a0001c0001t0001a0011c0020t0006 | a0001c0001t0001g0212a0001c0001t0001g0218a0001c0001t0001g0219others(2): Show | 5 | 382 | 0.0131 | -12 | c.112 others(29): Show |
C1orf87 | ENSG00000162598.13 | transcript | ENST00000371201.3 | protein_coding | 8/11 | chr1 | TogoVar | ||||||
C1orf94_chr1_34171907_34224131 | 34207262 | GGTGTGTG others(5): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00423.hp2 HG00735.hp1 others(22): Show |
a0002 | a0002c0002a0002c0012 | a0002c0002t0001a0002c0002t0002a0002c0002t0004others(6): Show | a0002c0002t0001g0110a0002c0002t0002g0189a0002c0002t0004g0141others(17): Show | 25 | 356 | 0.0702 | -12 | c.144 others(29): Show |
C1orf94 | ENSG00000142698.15 | transcript | ENST00000488417.2 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
C1orf94_chr1_34171907_34224131 | 34209309 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | NA20300.hp2 | a0011 | a0011c0014 | a0011c0014t0013 | a0011c0014t0013g0227 | 1 | 356 | 0.0028 | -12 | c.152 others(31): Show |
C1orf94 | ENSG00000142698.15 | transcript | ENST00000488417.2 | protein_coding | 5/6 | chr1 | TogoVar | ||||||
C20orf141_chr20_2809987_2820830 | 2811120 | GGTGTGTG others(5): Show |
G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG00423.hp1 HG00544.hp2 others(47): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(1): Show | 50 | 414 | 0.1208 | -12 | c.-39 others(23): Show |
C20orf141 | ENSG00000258713.3 | transcript | ENST00000603872.2 | protein_coding | 3866 | chr20 | TogoVar | ||||||
C20orf141_chr20_2809987_2820830 | 2817720 | TCACCCAC others(5): Show |
T | downstream_gene_variant | MODIFIER | HG01361.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | -12 | c.*19 others(23): Show |
C20orf141 | ENSG00000258713.3 | transcript | ENST00000603872.2 | protein_coding | 1891 | chr20 | TogoVar | ||||||
C20orf141_chr20_2809987_2820830 | 2820004 | GGTAAAAC others(5): Show |
G | downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 414 | 0.0024 | -12 | c.*42 others(23): Show |
C20orf141 | ENSG00000258713.3 | transcript | ENST00000603872.2 | protein_coding | 4175 | chr20 | TogoVar | ||||||
C20orf173_chr20_35521979_35534652 | 35530219 | AATTATTA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01975.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 366 | 0.0027 | -12 | c.-72 others(21): Show |
C20orf173 | ENSG00000125975.14 | transcript | ENST00000444723.3 | protein_coding | 568 | chr20 | TogoVar | ||||||
C20orf173_chr20_35521979_35534652 | 35532574 | TACACACA others(5): Show |
T | upstream_gene_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0002 | 1 | 366 | 0.0027 | -12 | c.-30 others(23): Show |
C20orf173 | ENSG00000125975.14 | transcript | ENST00000444723.3 | protein_coding | 2923 | chr20 | TogoVar | ||||||
C20orf173_chr20_35521979_35534652 | 35533870 | GTGTGTGT others(5): Show |
G | upstream_gene_variant | MODIFIER | HG02723.hp2 HG03098.hp1 |
a0003a0005 | a0003c0004a0005c0010 | a0003c0004t0001a0005c0010t0001 | a0003c0004t0001g0006a0005c0010t0001g0023 | 2 | 366 | 0.0055 | -12 | c.-43 others(23): Show |
C20orf173 | ENSG00000125975.14 | transcript | ENST00000444723.3 | protein_coding | 4219 | chr20 | TogoVar | ||||||
C20orf202_chr20_1198454_1214076 | 1206054 | AAAATAAA others(5): Show |
A | intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0029 | 1 | 416 | 0.0024 | -12 | c.67- others(25): Show |
C20orf202 | ENSG00000215595.3 | transcript | ENST00000400633.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
C20orf203_chr20_32626625_32678941 | 32628630 | AACACACA others(5): Show |
A | downstream_gene_variant | MODIFIER | HG02572.hp2 | a0001 | a0001c0001 | a0001c0001t0017 | a0001c0001t0017g0343 | 1 | 360 | 0.0028 | -12 | c.*69 others(23): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 2994 | chr20 | TogoVar | ||||||
C20orf203_chr20_32626625_32678941 | 32628674 | CACACACA others(5): Show |
C | downstream_gene_variant | MODIFIER | HG01261.hp2 HG02015.hp2 HG02040.hp1 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0075a0001c0001t0001g0101a0001c0001t0001g0121others(12): Show | 15 | 360 | 0.0417 | -12 | c.*68 others(23): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 2950 | chr20 | TogoVar | ||||||
C20orf203_chr20_32626625_32678941 | 32643625 | CCACACAC others(5): Show |
C | intron_variant | MODIFIER | HG01891.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0026a0001c0001t0029 | a0001c0001t0026g0169a0001c0001t0029g0264 | 2 | 360 | 0.0056 | -12 | c.*11 others(33): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 4/5 | chr20 | TogoVar | ||||||
C20orf203_chr20_32626625_32678941 | 32648428 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0276 | 1 | 360 | 0.0028 | -12 | c.*11 others(31): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 4/5 | chr20 | TogoVar | ||||||
C20orf203_chr20_32626625_32678941 | 32676124 | AACACACA others(5): Show |
A | upstream_gene_variant | MODIFIER | HG00741.hp1 NA18522.hp1 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0028a0001c0001t0029a0001c0001t0054 | a0001c0001t0028g0214a0001c0001t0029g0264a0001c0001t0054g0215 | 3 | 360 | 0.0083 | -12 | c.-27 others(23): Show |
C20orf203 | ENSG00000198547.10 | transcript | ENST00000608990.6 | protein_coding | 2184 | chr20 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 271440 | GCATACAC others(5): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00597.hp2 HG00609.hp2 others(18): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(3): Show | a0001c0001t0001a0001c0003t0001a0001c0005t0001others(3): Show | a0001c0001t0001g0092a0001c0001t0001g0093a0001c0001t0001g0250others(18): Show | 21 | 410 | 0.0512 | -12 | c.103 others(29): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 10/10 | chr20 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 271443 | TACACACA others(5): Show |
T | intron_variant | MODIFIER | HG00597.hp1 HG00741.hp1 HG00741.hp2 others(61): Show |
a0001a0002 | a0001c0001a0001c0003a0001c0005others(4): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(5): Show | a0001c0001t0001g0010a0001c0001t0001g0015a0001c0001t0001g0016others(57): Show | 64 | 410 | 0.1561 | -12 | c.103 others(29): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 10/10 | chr20 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 271469 | CACACACA others(5): Show |
C | intron_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0383 | 1 | 410 | 0.0024 | -12 | c.103 others(29): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 10/10 | chr20 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 273899 | AAGGAAGG others(5): Show |
A | intron_variant | MODIFIER | NA18906.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 410 | 0.0024 | -12 | c.103 others(31): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 10/10 | chr20 | TogoVar | ||||||
C20orf96_chr20_265863_295750 | 279026 | GGGAGGGC others(5): Show |
G | intron_variant | MODIFIER | HG02300.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0264 | 1 | 410 | 0.0024 | -12 | c.465 others(27): Show |
C20orf96 | ENSG00000196476.12 | transcript | ENST00000360321.7 | protein_coding | 5/10 | chr20 | TogoVar | ||||||
C21orf58_chr21_46296130_46328870 | 46303735 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | NA20752.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0141 | 1 | 378 | 0.0027 | -12 | c.722 others(29): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 6/7 | chr21 | TogoVar | ||||||
C21orf58_chr21_46296130_46328870 | 46303737 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG01123.hp2 HG03704.hp2 NA18957.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0013a0001c0001t0004g0054a0001c0001t0004g0061others(2): Show | 6 | 378 | 0.0159 | -12 | c.722 others(29): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 6/7 | chr21 | TogoVar | ||||||
C21orf58_chr21_46296130_46328870 | 46303739 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00423.hp1 HG00735.hp2 others(19): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0011 | a0001c0001t0004g0001a0001c0001t0004g0012a0001c0001t0004g0041others(13): Show | 22 | 378 | 0.0582 | -12 | c.722 others(29): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 6/7 | chr21 | TogoVar | ||||||
C21orf58_chr21_46296130_46328870 | 46303741 | ATATATTT others(5): Show |
A | intron_variant | MODIFIER | HG02145.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0035 | 1 | 378 | 0.0027 | -12 | c.722 others(29): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 6/7 | chr21 | TogoVar | ||||||
C21orf58_chr21_46296130_46328870 | 46311807 | TCATCCAC others(5): Show |
T | intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0260 | 1 | 378 | 0.0027 | -12 | c.610 others(27): Show |
C21orf58 | ENSG00000160298.18 | transcript | ENST00000291691.12 | protein_coding | 5/7 | chr21 | TogoVar | ||||||
C21orf62_chr21_32785673_32818703 | 32796034 | CTCCTTCC others(5): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02257.hp2 HG02970.hp1 |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0014a0003c0004t0018 | a0001c0002t0014g0148a0001c0002t0014g0149a0003c0004t0018g0147 | 3 | 303 | 0.0099 | -12 | c.-64 others(29): Show |
C21orf62 | ENSG00000205929.11 | transcript | ENST00000479548.2 | protein_coding | 3/3 | chr21 | TogoVar | ||||||
C21orf62_chr21_32785673_32818703 | 32809182 | CGTGTGTG others(5): Show |
C | intron_variant | MODIFIER | NA18974.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0092 | 1 | 303 | 0.0033 | -12 | c.-14 others(31): Show |
C21orf62 | ENSG00000205929.11 | transcript | ENST00000479548.2 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
C21orf62_chr21_32785673_32818703 | 32809279 | CCTTTCTT others(5): Show |
C | intron_variant | MODIFIER | HG01975.hp2 HG01978.hp1 HG02735.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0002 | a0001c0001t0001g0008a0001c0001t0001g0083a0001c0001t0001g0130others(2): Show | 6 | 303 | 0.0198 | -12 | c.-14 others(31): Show |
C21orf62 | ENSG00000205929.11 | transcript | ENST00000479548.2 | protein_coding | 2/3 | chr21 | TogoVar | ||||||
C21orf91_chr21_17783974_17824356 | 17785177 | CATCTGTA others(5): Show |
C | downstream_gene_variant | MODIFIER | NA18946.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0001 | 1 | 414 | 0.0024 | -12 | c.*82 others(23): Show |
C21orf91 | ENSG00000154642.11 | transcript | ENST00000284881.9 | protein_coding | 3796 | chr21 | TogoVar | ||||||
C21orf91_chr21_17783974_17824356 | 17786300 | CTTTTTTT others(5): Show |
C | downstream_gene_variant | MODIFIER | HG03130.hp1 | a0001 | a0001c0001 | a0001c0001t0065 | a0001c0001t0065g0162 | 1 | 414 | 0.0024 | -12 | c.*71 others(23): Show |
C21orf91 | ENSG00000154642.11 | transcript | ENST00000284881.9 | protein_coding | 2673 | chr21 | TogoVar | ||||||
C22orf23_chr22_37938050_37958601 | 37951797 | CTTTTTTT others(5): Show |
C | intron_variant | MODIFIER | HG02630.hp1 HG02976.hp1 HG03516.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0034a0001c0001t0001g0196 | 3 | 374 | 0.0080 | -12 | c.104 others(27): Show |
C22orf23 | ENSG00000128346.11 | transcript | ENST00000403305.6 | protein_coding | 2/6 | chr22 | TogoVar | ||||||
C22orf31_chr22_29053672_29066831 | 29064675 | ATTTTTTT others(5): Show |
A | upstream_gene_variant | MODIFIER | HG01257.hp2 HG02602.hp1 HG02970.hp2 others(1): Show |
a0001a0002 | a0001c0002a0002c0005 | a0001c0002t0001a0002c0005t0001 | a0001c0002t0001g0011a0001c0002t0001g0054a0002c0005t0001g0047others(1): Show | 4 | 472 | 0.0085 | -12 | c.-28 others(23): Show |
C22orf31 | ENSG00000100249.5 | transcript | ENST00000216071.5 | protein_coding | 2845 | chr22 | TogoVar | ||||||
C22orf31_chr22_29053672_29066831 | 29066539 | CTTTTTTT others(5): Show |
C | upstream_gene_variant | MODIFIER | HG00140.hp1 HG00733.hp1 HG01175.hp1 others(5): Show |
a0001a0002 | a0001c0002a0002c0004 | a0001c0002t0001a0002c0004t0001 | a0001c0002t0001g0011a0001c0002t0001g0018a0001c0002t0001g0032others(5): Show | 8 | 472 | 0.0170 | -12 | c.-47 others(23): Show |
C22orf31 | ENSG00000100249.5 | transcript | ENST00000216071.5 | protein_coding | 4709 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32146365 | AATATAAT others(5): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00673.hp2 HG01175.hp1 others(8): Show |
a0004 | a0004c0005 | a0004c0005t0002 | a0004c0005t0002g0006a0004c0005t0002g0078 | 11 | 398 | 0.0276 | -12 | c.*31 others(23): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 2640 | chr22 | TogoVar | ||||||
C22orf42_chr22_32144006_32164303 | 32148228 | TGTGTGTG others(5): Show |
T | downstream_gene_variant | MODIFIER | HG03486.hp2 NA18906.hp1 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0031a0002c0002t0004g0057 | 2 | 398 | 0.0050 | -12 | c.*13 others(23): Show |
C22orf42 | ENSG00000205856.4 | transcript | ENST00000382097.4 | protein_coding | 777 | chr22 | TogoVar | ||||||
C2CD2L_chr11_119102344_119123544 | 119123128 | CAAAAAAA others(5): Show |
C | downstream_gene_variant | MODIFIER | NA18950.hp1 NA18979.hp2 NA19066.hp2 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 3 | 398 | 0.0075 | -12 | c.*68 others(23): Show |
C2CD2L | ENSG00000172375.14 | transcript | ENST00000648610.2 | protein_coding | 4585 | chr11 | TogoVar | ||||||
C2CD2_chr21_41880112_41959018 | 41915401 | CCCAAACC others(5): Show |
C | intron_variant | MODIFIER | HG02486.hp2 HG03130.hp1 |
a0001a0003 | a0001c0003a0003c0031 | a0001c0003t0020a0003c0031t0018 | a0001c0003t0020g0321a0003c0031t0018g0158 | 2 | 396 | 0.0051 | -12 | c.721 others(27): Show |
C2CD2 | ENSG00000157617.17 | transcript | ENST00000380486.4 | protein_coding | 5/13 | chr21 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74030744 | ACTCCTCC others(5): Show |
A | intron_variant | MODIFIER | homoSapiens_chm13v2.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0098 | 1 | 318 | 0.0031 | -12 | c.681 others(31): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 31/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74077771 | GTATATAT others(5): Show |
G | intron_variant | MODIFIER | HG00438.hp1 HG01975.hp1 HG02129.hp2 others(7): Show |
a0001a0013 | a0001c0001a0013c0014 | a0001c0001t0001a0013c0014t0001 | a0001c0001t0001g0097a0001c0001t0001g0103a0001c0001t0001g0109others(7): Show | 10 | 318 | 0.0315 | -12 | c.460 others(29): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 23/32 | chr11 | TogoVar | ||||||
C2CD3_chr11_74007718_74176002 | 74077835 | ATATATAT others(5): Show |
A | intron_variant | MODIFIER | HG02055.hp2 NA18946.hp2 |
a0002 | a0002c0003a0002c0005 | a0002c0003t0001a0002c0005t0001 | a0002c0003t0001g0197a0002c0005t0001g0058 | 2 | 318 | 0.0063 | -12 | c.460 others(29): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 23/32 | chr11 | TogoVar |