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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C4orf47_chr4_185421254_185454826 | 185443342 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | NA18999.hp2 NA20805.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0191 a0001c0001t0001g0274 |
2 | 358 | 0.0056 | 12 | c.715 others(29): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf47_chr4_185421254_185454826 | 185443342 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00323.hp1 others(40): Show |
a0001a0005a0007 | a0001c0001a0001c0009a0005c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0009t0003others(2): Show | a0001c0001t0001g0020 a0001c0001t0001g0022 a0001c0001t0001g0027 others(34): Show |
43 | 358 | 0.1201 | 12 | c.715 others(29): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf47_chr4_185421254_185454826 | 185443342 | A | ATATATAT others(5): Show |
intron_variant | MODIFIER | HG00423.hp2 HG02280.hp2 NA18747.hp1 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0017 a0001c0001t0001g0029 a0001c0001t0001g0088 others(5): Show |
11 | 358 | 0.0307 | 12 | c.715 others(29): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf47_chr4_185421254_185454826 | 185443342 | A | ATATATTT others(5): Show |
intron_variant | MODIFIER | HG00738.hp2 HG02040.hp2 HG02074.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 a0001c0001t0001g0152 a0001c0001t0001g0173 others(3): Show |
7 | 358 | 0.0196 | 12 | c.715 others(29): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf47_chr4_185421254_185454826 | 185443342 | A | ATATTTTT others(5): Show |
intron_variant | MODIFIER | NA18612.hp2 NA18966.hp1 NA18983.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0155 a0001c0001t0001g0176 a0001c0001t0001g0177 others(1): Show |
4 | 358 | 0.0112 | 12 | c.715 others(29): Show |
C4orf47 | ENSG00000205129.9 | transcript | ENST00000378850.5 | protein_coding | 6/7 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 5995474 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG00558.hp1 HG00597.hp2 HG00639.hp2 others(9): Show |
a0001a0002a0005others(2): Show | a0001c0001a0002c0002a0005c0005others(2): Show | a0001c0001t0001a0002c0002t0001a0005c0005t0001others(2): Show | a0001c0001t0001g0099 a0001c0001t0001g0100 a0001c0001t0001g0101 others(9): Show |
12 | 346 | 0.0347 | 12 | c.964 others(28): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | |||||||
C4orf54_chr4_99631529_99662828 | 99643739 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG01081.hp2 HG04184.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0038 | a0001c0001t0001g0179 a0001c0001t0038g0165 |
2 | 392 | 0.0051 | 12 | c.*37 others(29): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
C4orf54_chr4_99631529_99662828 | 99643792 | A | ACACACAC others(5): Show |
intron_variant | MODIFIER | HG01074.hp1 HG02300.hp1 NA18983.hp1 others(2): Show |
a0001a0002a0014 | a0001c0001a0001c0042a0002c0002others(1): Show | a0001c0001t0001a0001c0042t0041a0002c0002t0001others(1): Show | a0001c0001t0001g0156 a0001c0001t0001g0161 a0001c0042t0041g0126 others(2): Show |
5 | 392 | 0.0128 | 12 | c.*37 others(29): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
C4orf54_chr4_99631529_99662828 | 99643792 | A | ACACACAC others(5): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp2 NA18963.hp1 others(9): Show |
a0001a0011 | a0001c0001a0011c0012 | a0001c0001t0001a0011c0012t0001 | a0001c0001t0001g0009 a0001c0001t0001g0037 a0001c0001t0001g0177 others(2): Show |
12 | 392 | 0.0306 | 12 | c.*37 others(29): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
C4orf54_chr4_99631529_99662828 | 99643792 | A | ACACACAC others(5): Show |
intron_variant | MODIFIER | HG01109.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0150 | 1 | 392 | 0.0026 | 12 | c.*37 others(29): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
C4orf54_chr4_99631529_99662828 | 99660485 | C | CAAAAAAA others(5): Show |
upstream_gene_variant | MODIFIER | HG02559.hp1 HG03130.hp2 HG03225.hp1 others(3): Show |
a0002a0006a0009 | a0002c0002a0006c0011a0009c0009 | a0002c0002t0004a0006c0011t0032a0009c0009t0011 | a0002c0002t0004g0045 a0002c0002t0004g0210 a0002c0002t0004g0211 others(3): Show |
6 | 392 | 0.0153 | 12 | c.-30 others(23): Show |
C4orf54 | ENSG00000248713.2 | transcript | ENST00000511828.2 | protein_coding | 2658 | chr4 | TogoVar | |||||||
C5AR2_chr19_47327175_47352329 | 47338656 | A | AAATAATA others(5): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00544.hp1 HG00609.hp1 others(80): Show |
a0001a0004 | a0001c0001a0001c0004a0001c0013others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(26): Show | a0001c0001t0001g0011 a0001c0001t0001g0019 a0001c0001t0001g0046 others(69): Show |
83 | 406 | 0.2044 | 12 | c.-15 others(29): Show |
C5AR2 | ENSG00000134830.6 | transcript | ENST00000595464.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
C5AR2_chr19_47327175_47352329 | 47344346 | C | CTAAATAA others(5): Show |
3_prime_UTR_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0001 | a0001c0001t0088 | a0001c0001t0088g0060 | 1 | 406 | 0.0025 | 12 | c.*25 others(23): Show |
C5AR2 | ENSG00000134830.6 | transcript | ENST00000595464.3 | protein_coding | 2/2 | 2557 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
C5_chr9_120947335_121055275 | 121002314 | G | GTATATAT others(5): Show |
intron_variant | MODIFIER | HG03195.hp1 | a0018 | a0018c0028 | a0018c0028t0001 | a0018c0028t0001g0223 | 1 | 276 | 0.0036 | 12 | c.256 others(31): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 20/40 | chr9 | TogoVar | |||||||
C5_chr9_120947335_121055275 | 121002316 | G | GTGTATAT others(5): Show |
intron_variant | MODIFIER | NA18951.hp2 NA19086.hp2 |
a0002a0025 | a0002c0002a0025c0031 | a0002c0002t0001a0025c0031t0001 | a0002c0002t0001g0144 a0025c0031t0001g0109 |
2 | 276 | 0.0073 | 12 | c.256 others(31): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 20/40 | chr9 | TogoVar | |||||||
C5_chr9_120947335_121055275 | 121008927 | C | CACAAACA others(5): Show |
intron_variant | MODIFIER | HG02486.hp1 HG03195.hp1 HG03239.hp1 |
a0002a0013a0018 | a0002c0002a0013c0015a0018c0028 | a0002c0002t0001a0013c0015t0001a0018c0028t0001 | a0002c0002t0001g0112 a0013c0015t0001g0221 a0018c0028t0001g0223 |
3 | 276 | 0.0109 | 12 | c.225 others(29): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 17/40 | chr9 | TogoVar | |||||||
C5_chr9_120947335_121055275 | 121018742 | A | AAAGAAAG others(5): Show |
intron_variant | MODIFIER | HG01109.hp1 HG02145.hp1 HG02809.hp2 others(9): Show |
a0003a0015 | a0003c0003a0003c0004a0015c0016 | a0003c0003t0001a0003c0004t0001a0003c0004t0003others(1): Show | a0003c0003t0001g0037 a0003c0003t0001g0038 a0003c0003t0001g0042 others(9): Show |
12 | 276 | 0.0435 | 12 | c.150 others(29): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 12/40 | chr9 | TogoVar | |||||||
C5_chr9_120947335_121055275 | 121018742 | A | AAAGAAAG others(5): Show |
intron_variant | MODIFIER | HG00280.hp1 HG01515.hp1 NA18942.hp1 others(5): Show |
a0002a0003 | a0002c0002a0003c0003 | a0002c0002t0001a0003c0003t0001 | a0002c0002t0001g0071 a0002c0002t0001g0121 a0002c0002t0001g0122 others(5): Show |
8 | 276 | 0.0290 | 12 | c.150 others(29): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 12/40 | chr9 | TogoVar | |||||||
C5_chr9_120947335_121055275 | 121025419 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00438.hp2 others(35): Show |
a0001a0003a0006others(6): Show | a0001c0001a0001c0019a0003c0003others(8): Show | a0001c0001t0001a0001c0019t0001a0003c0003t0001others(8): Show | a0001c0001t0001g0077 a0001c0001t0001g0085 a0001c0019t0001g0244 others(32): Show |
38 | 276 | 0.1377 | 12 | c.100 others(27): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 9/40 | chr9 | TogoVar | |||||||
C5_chr9_120947335_121055275 | 121025425 | C | CACACACA others(5): Show |
intron_variant | MODIFIER | HG02155.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0045 | 1 | 276 | 0.0036 | 12 | c.100 others(27): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 9/40 | chr9 | TogoVar | |||||||
C5orf22_chr5_31527301_31560053 | 31542467 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02572.hp2 HG02896.hp2 others(2): Show |
a0004 | a0004c0004 | a0004c0004t0010a0004c0004t0017 | a0004c0004t0010g0032 a0004c0004t0010g0049 a0004c0004t0010g0107 others(1): Show |
5 | 404 | 0.0124 | 12 | c.992 others(29): Show |
C5orf22 | ENSG00000082213.18 | transcript | ENST00000325366.14 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C5orf24_chr5_134840968_134864735 | 134850919 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | NA18963.hp1 NA18968.hp1 NA18981.hp2 others(5): Show |
a0001 | a0001c0001a0001c0007 | a0001c0001t0001a0001c0001t0002a0001c0001t0020others(1): Show | a0001c0001t0001g0056 a0001c0001t0002g0019 a0001c0001t0002g0140 others(4): Show |
8 | 402 | 0.0199 | 12 | c.-3- others(27): Show |
C5orf24 | ENSG00000181904.9 | transcript | ENST00000394976.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C5orf24_chr5_134840968_134864735 | 134850937 | T | TATATACA others(5): Show |
intron_variant | MODIFIER | HG02145.hp2 HG02922.hp2 HG02965.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0005 | a0001c0001t0004g0024 a0001c0001t0005g0024 a0001c0001t0005g0225 others(1): Show |
5 | 402 | 0.0124 | 12 | c.-3- others(27): Show |
C5orf24 | ENSG00000181904.9 | transcript | ENST00000394976.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C5orf24_chr5_134840968_134864735 | 134850937 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02004.hp2 NA18967.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0004a0001c0001t0032 | a0001c0001t0004g0009 a0001c0001t0004g0229 a0001c0001t0004g0231 others(1): Show |
8 | 402 | 0.0199 | 12 | c.-3- others(27): Show |
C5orf24 | ENSG00000181904.9 | transcript | ENST00000394976.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C5orf24_chr5_134840968_134864735 | 134850937 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | NA19007.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0228 | 1 | 402 | 0.0025 | 12 | c.-3- others(27): Show |
C5orf24 | ENSG00000181904.9 | transcript | ENST00000394976.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C5orf24_chr5_134840968_134864735 | 134853528 | C | CTTCTTTT others(5): Show |
intron_variant | MODIFIER | HG02615.hp1 NA20300.hp2 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0088 a0001c0001t0003g0132 |
2 | 402 | 0.0050 | 12 | c.-3- others(27): Show |
C5orf24 | ENSG00000181904.9 | transcript | ENST00000394976.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C5orf34_chr5_43481709_43520148 | 43519819 | T | TTGTGTGT others(5): Show |
upstream_gene_variant | MODIFIER | HG01070.hp2 HG02809.hp1 HG03209.hp1 others(2): Show |
a0001a0002 | a0001c0001a0002c0005 | a0001c0001t0001a0001c0001t0004a0002c0005t0003 | a0001c0001t0001g0180 a0001c0001t0001g0202 a0001c0001t0001g0203 others(2): Show |
5 | 340 | 0.0147 | 12 | c.-50 others(23): Show |
C5orf34 | ENSG00000172244.9 | transcript | ENST00000306862.7 | protein_coding | 4672 | chr5 | TogoVar | |||||||
C5orf46_chr5_147887722_147911538 | 147908963 | C | CACACAAA others(5): Show |
upstream_gene_variant | MODIFIER | HG00099.hp2 HG00423.hp2 HG00438.hp2 others(100): Show |
a0001a0002a0003 | a0001c0001a0001c0006a0002c0003others(2): Show | a0001c0001t0001a0001c0006t0001a0002c0003t0001others(3): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0010 others(39): Show |
103 | 452 | 0.2279 | 12 | c.-24 others(23): Show |
C5orf46 | ENSG00000178776.5 | transcript | ENST00000318315.5 | protein_coding | 2426 | chr5 | TogoVar | |||||||
C5orf52_chr5_157666533_157685158 | 157669486 | T | TTTTATTT others(5): Show |
upstream_gene_variant | MODIFIER | HG01192.hp2 HG02040.hp1 HG02818.hp1 others(3): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0004 | a0001c0001t0001a0002c0002t0001a0004c0004t0001 | a0001c0001t0001g0001 a0002c0002t0001g0008 a0002c0002t0001g0030 others(1): Show |
6 | 418 | 0.0144 | 12 | c.-21 others(23): Show |
C5orf52 | ENSG00000187658.7 | transcript | ENST00000409999.4 | protein_coding | 2046 | chr5 | TogoVar | |||||||
C5orf58_chr5_170227985_170251231 | 170249362 | G | GTATATAT others(5): Show |
downstream_gene_variant | MODIFIER | HG01891.hp2 HG02717.hp1 HG02809.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 5 | 426 | 0.0117 | 12 | c.*32 others(23): Show |
C5orf58 | ENSG00000234511.11 | transcript | ENST00000593851.5 | protein_coding | 3132 | chr5 | TogoVar | |||||||
C6orf120_chr6_169697126_169711360 | 169701914 | G | GAGGACTC others(5): Show |
upstream_gene_variant | MODIFIER | NA19079.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0000 | 1 | 416 | 0.0024 | 12 | c.-54 others(21): Show |
C6orf120 | ENSG00000185127.7 | transcript | ENST00000332290.4 | protein_coding | 211 | chr6 | TogoVar | |||||||
C6orf120_chr6_169697126_169711360 | 169706727 | T | TACATACA others(5): Show |
downstream_gene_variant | MODIFIER | HG00642.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0000 | 1 | 416 | 0.0024 | 12 | c.*36 others(23): Show |
C6orf120 | ENSG00000185127.7 | transcript | ENST00000332290.4 | protein_coding | 368 | chr6 | TogoVar | |||||||
C6orf132_chr6_42096119_42147620 | 42109430 | C | CAAATAAA others(5): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02258.hp1 HG03453.hp2 others(1): Show |
a0002a0005a0016others(1): Show | a0002c0048a0005c0029a0016c0041others(1): Show | a0002c0048t0002a0005c0029t0062a0016c0041t0032others(1): Show | a0002c0048t0002g0093 a0005c0029t0062g0357 a0016c0041t0032g0253 others(1): Show |
4 | 364 | 0.0110 | 12 | c.328 others(27): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
C6orf132_chr6_42096119_42147620 | 42117923 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | NA19054.hp1 | a0048 | a0048c0043 | a0048c0043t0002 | a0048c0043t0002g0289 | 1 | 364 | 0.0028 | 12 | c.253 others(29): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
C6orf132_chr6_42096119_42147620 | 42138850 | A | AACACACA others(5): Show |
intron_variant | MODIFIER | HG00408.hp1 HG00423.hp2 HG00609.hp1 others(46): Show |
a0001a0002a0003others(11): Show | a0001c0001a0001c0058a0001c0061others(15): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(24): Show | a0001c0001t0001g0147 a0001c0001t0001g0148 a0001c0001t0001g0179 others(44): Show |
49 | 364 | 0.1346 | 12 | c.145 others(29): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
C6orf163_chr6_87339813_87370463 | 87345916 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG02615.hp1 NA18949.hp2 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0001 | a0001c0001t0001g0055 a0001c0005t0001g0054 |
2 | 436 | 0.0046 | 12 | c.148 others(27): Show |
C6orf163 | ENSG00000203872.7 | transcript | ENST00000388923.5 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
C6orf58_chr6_127572174_127596820 | 127592690 | A | AAAACAAA others(5): Show |
downstream_gene_variant | MODIFIER | HG00099.hp1 HG00140.hp1 HG00280.hp1 others(204): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0010others(1): Show | a0001c0001t0001a0002c0002t0001a0006c0010t0001others(1): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(59): Show |
207 | 454 | 0.4560 | 12 | c.*10 others(23): Show |
C6orf58 | ENSG00000184530.9 | transcript | ENST00000329722.8 | protein_coding | 871 | chr6 | TogoVar | |||||||
C6orf62_chr6_24699861_24724154 | 24711239 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG01109.hp1 HG01891.hp1 HG02723.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0047 a0001c0001t0005g0153 |
3 | 414 | 0.0073 | 12 | c.430 others(29): Show |
C6orf62 | ENSG00000112308.14 | transcript | ENST00000378119.9 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
C6orf89_chr6_36880952_36933964 | 36901322 | T | TTATTATT others(5): Show |
intron_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0015 | a0001c0001t0015g0184 | 1 | 396 | 0.0025 | 12 | c.190 others(27): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 3/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40918949 | G | GACACACA others(5): Show |
intron_variant | MODIFIER | HG00741.hp2 HG02486.hp1 NA18906.hp1 |
a0001a0005 | a0001c0001a0005c0005 | a0001c0001t0005a0005c0005t0001 | a0001c0001t0005g0036 a0001c0001t0005g0075 a0005c0005t0001g0143 |
3 | 380 | 0.0079 | 12 | c.6+9 others(25): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40922696 | C | CAAAAAAA others(5): Show |
intron_variant | MODIFIER | HG01192.hp1 HG02293.hp1 HG02723.hp1 others(5): Show |
a0001a0003a0005 | a0001c0001a0003c0003a0005c0005 | a0001c0001t0002a0001c0001t0005a0001c0001t0010others(3): Show | a0001c0001t0002g0328 a0001c0001t0005g0279 a0001c0001t0010g0278 others(5): Show |
8 | 380 | 0.0211 | 12 | c.7-5 others(25): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40945875 | C | CATATATA others(5): Show |
intron_variant | MODIFIER | NA18979.hp1 | a0008 | a0008c0008 | a0008c0008t0001 | a0008c0008t0001g0320 | 1 | 380 | 0.0026 | 12 | c.738 others(27): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40952478 | T | TTTTATTT others(5): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01361.hp2 HG01975.hp1 others(3): Show |
a0001a0002a0005 | a0001c0001a0002c0002a0005c0005 | a0001c0001t0005a0001c0001t0010a0001c0001t0022others(3): Show | a0001c0001t0005g0279 a0001c0001t0010g0278 a0001c0001t0022g0209 others(3): Show |
6 | 380 | 0.0158 | 12 | c.109 others(31): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40978873 | A | ATTTTTTT others(5): Show |
intron_variant | MODIFIER | HG00741.hp1 HG01516.hp1 HG02818.hp1 others(2): Show |
a0001a0005a0006 | a0001c0001a0005c0005a0006c0006 | a0001c0001t0008a0001c0001t0019a0005c0005t0001others(1): Show | a0001c0001t0008g0286 a0001c0001t0019g0063 a0005c0005t0001g0285 others(2): Show |
5 | 380 | 0.0132 | 12 | c.216 others(29): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 16/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7orf31_chr7_25129692_25185354 | 25179042 | A | AAAACAAA others(5): Show |
intron_variant | MODIFIER | HG01243.hp2 HG02055.hp1 HG02145.hp2 others(13): Show |
a0002a0005a0007 | a0002c0002a0005c0010a0007c0005 | a0002c0002t0001a0005c0010t0002a0007c0005t0001 | a0002c0002t0001g0014 a0002c0002t0001g0098 a0002c0002t0001g0099 others(9): Show |
16 | 416 | 0.0385 | 12 | c.134 others(27): Show |
C7orf31 | ENSG00000153790.12 | transcript | ENST00000283905.8 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
C7orf33_chr7_148585766_148620860 | 148598763 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG02080.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0424 | 1 | 444 | 0.0023 | 12 | c.204 others(29): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148598763 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | NA19090.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0126 | 1 | 444 | 0.0023 | 12 | c.204 others(29): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148598763 | T | TATATATA others(5): Show |
intron_variant | MODIFIER | HG00642.hp1 NA18941.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0127 a0001c0001t0003g0139 |
2 | 444 | 0.0045 | 12 | c.204 others(29): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148606933 | T | TACACACA others(5): Show |
intron_variant | MODIFIER | HG00597.hp1 HG00735.hp2 HG00738.hp2 others(53): Show |
a0001a0002 | a0001c0001a0001c0004a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(3): Show | a0001c0001t0001g0099 a0001c0001t0001g0102 a0001c0001t0001g0112 others(53): Show |
56 | 444 | 0.1261 | 12 | c.205 others(29): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1009016 | T | TGCACACA others(5): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00558.hp2 others(49): Show |
a0001a0008a0013 | a0001c0001a0008c0005a0013c0006 | a0001c0001t0002a0001c0001t0013a0001c0001t0025others(4): Show | a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 others(49): Show |
52 | 326 | 0.1595 | 12 | c.323 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar |