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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C5AR2_chr19_47327175_47352329 | 47338656 | AAATAAT | A | intron_variant | MODIFIER | HG00140.hp2 HG00621.hp2 HG00733.hp2 others(49): Show |
a0001 | a0001c0001a0001c0011 | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(9): Show | a0001c0001t0001g0004 a0001c0001t0001g0005 a0001c0001t0001g0017 others(39): Show |
52 | 406 | 0.1281 | -6 | c.-15 others(23): Show |
C5AR2 | ENSG00000134830.6 | transcript | ENST00000595464.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
C5_chr9_120947335_121055275 | 120984696 | AATAGGT | A | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp1 HG00408.hp1 others(83): Show |
a0001a0002a0005others(6): Show | a0001c0001a0002c0002a0002c0029others(7): Show | a0001c0001t0001a0002c0002t0001a0002c0029t0001others(7): Show | a0001c0001t0001g0073 a0001c0001t0001g0074 a0001c0001t0001g0087 others(83): Show |
86 | 276 | 0.3116 | -6 | c.323 others(25): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 25/40 | chr9 | TogoVar | |||||||
C5_chr9_120947335_121055275 | 121002216 | GTATATA | G | intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00597.hp1 others(52): Show |
a0003a0010a0013others(4): Show | a0003c0003a0003c0004a0010c0012others(5): Show | a0003c0003t0001a0003c0004t0001a0003c0004t0003others(6): Show | a0003c0003t0001g0001 a0003c0003t0001g0002 a0003c0003t0001g0012 others(49): Show |
55 | 276 | 0.1993 | -6 | c.256 others(25): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 20/40 | chr9 | TogoVar | |||||||
C5_chr9_120947335_121055275 | 121002308 | ATGTGTG | A | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00735.hp2 others(22): Show |
a0002a0005a0020 | a0002c0002a0005c0007a0020c0033 | a0002c0002t0001a0005c0007t0001a0020c0033t0001 | a0002c0002t0001g0072 a0002c0002t0001g0111 a0002c0002t0001g0114 others(22): Show |
25 | 276 | 0.0906 | -6 | c.256 others(25): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 20/40 | chr9 | TogoVar | |||||||
C5orf22_chr5_31527301_31560053 | 31541105 | AGTGTGT | A | intron_variant | MODIFIER | HG01891.hp1 HG01934.hp2 HG01952.hp1 others(23): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(3): Show | a0001c0001t0001g0109 a0001c0001t0001g0110 a0001c0001t0002g0008 others(8): Show |
26 | 404 | 0.0644 | -6 | c.870 others(21): Show |
C5orf22 | ENSG00000082213.18 | transcript | ENST00000325366.14 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C5orf34_chr5_43481709_43520148 | 43512760 | CTTTTTT | C | intron_variant | MODIFIER | HG01168.hp1 HG01169.hp1 HG02559.hp2 others(5): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0006 | a0001c0002t0002g0053 a0001c0002t0002g0054 a0001c0002t0002g0055 others(4): Show |
8 | 340 | 0.0235 | -6 | c.-37 others(23): Show |
C5orf34 | ENSG00000172244.9 | transcript | ENST00000306862.7 | protein_coding | 1/12 | chr5 | TogoVar | |||||||
C5orf46_chr5_147887722_147911538 | 147911316 | GACCACC | G | upstream_gene_variant | MODIFIER | HG01258.hp1 HG02074.hp2 HG02145.hp2 others(14): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0001a0002c0003t0001a0002c0003t0002others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0003 a0001c0001t0001g0043 others(7): Show |
17 | 452 | 0.0376 | -6 | c.-48 others(17): Show |
C5orf46 | ENSG00000178776.5 | transcript | ENST00000318315.5 | protein_coding | 4779 | chr5 | TogoVar | |||||||
C5orf47_chr5_173984170_174011140 | 173987021 | CTTTTTT | C | upstream_gene_variant | MODIFIER | HG01891.hp1 HG02258.hp1 HG02615.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0003 a0001c0001t0002g0006 a0001c0001t0002g0033 |
6 | 382 | 0.0157 | -6 | c.-22 others(17): Show |
C5orf47 | ENSG00000185056.10 | transcript | ENST00000340147.7 | protein_coding | 2148 | chr5 | TogoVar | |||||||
C5orf63_chr5_127046304_127078502 | 127048246 | GACACAC | G | downstream_gene_variant | MODIFIER | HG00558.hp2 HG02896.hp1 HG03471.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0051 a0001c0001t0002g0001 a0001c0001t0003g0030 |
4 | 350 | 0.0114 | -6 | c.*35 others(17): Show |
C5orf63 | ENSG00000164241.14 | transcript | ENST00000296662.10 | protein_coding | 3057 | chr5 | TogoVar | |||||||
C5orf63_chr5_127046304_127078502 | 127059738 | AAAAAAG | A | intron_variant | MODIFIER | HG02280.hp1 HG02451.hp1 HG02572.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0007 a0001c0001t0003g0070 a0001c0001t0003g0071 |
8 | 350 | 0.0229 | -6 | c.-7- others(19): Show |
C5orf63 | ENSG00000164241.14 | transcript | ENST00000296662.10 | protein_coding | 2/4 | chr5 | TogoVar | |||||||
C6_chr5_41137116_41218532 | 41187699 | TACACAC | T | intron_variant | MODIFIER | HG02257.hp1 HG02280.hp1 HG02486.hp1 others(4): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0031 a0002c0001t0001g0148 a0002c0001t0001g0207 others(3): Show |
7 | 402 | 0.0174 | -6 | c.588 others(23): Show |
C6 | ENSG00000039537.16 | transcript | ENST00000337836.10 | protein_coding | 5/17 | chr5 | TogoVar | |||||||
C6_chr5_41137116_41218532 | 41200870 | TTTGTTG | T | intron_variant | MODIFIER | HG02809.hp1 HG03130.hp2 HG03486.hp1 |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0131 a0001c0002t0001g0132 a0001c0002t0001g0134 |
3 | 402 | 0.0075 | -6 | c.300 others(21): Show |
C6 | ENSG00000039537.16 | transcript | ENST00000337836.10 | protein_coding | 3/17 | chr5 | TogoVar | |||||||
C6_chr5_41137116_41218532 | 41200888 | GTTGTTT | G | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp1 HG02630.hp2 others(8): Show |
a0001a0002a0006others(1): Show | a0001c0002a0001c0003a0002c0001others(2): Show | a0001c0002t0012a0001c0003t0001a0002c0001t0003others(2): Show | a0001c0002t0012g0129 a0001c0003t0001g0120 a0001c0003t0001g0123 others(8): Show |
11 | 402 | 0.0274 | -6 | c.300 others(21): Show |
C6 | ENSG00000039537.16 | transcript | ENST00000337836.10 | protein_coding | 3/17 | chr5 | TogoVar | |||||||
C6orf118_chr6_165274664_165314605 | 165276424 | GACACAC | G | downstream_gene_variant | MODIFIER | HG00323.hp2 HG01069.hp2 HG01070.hp1 others(15): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0002c0005others(3): Show | a0001c0001t0001a0002c0002t0001a0002c0005t0001others(3): Show | a0001c0001t0001g0138 a0001c0001t0001g0154 a0002c0002t0001g0105 others(12): Show |
18 | 360 | 0.0500 | -6 | c.*36 others(17): Show |
C6orf118 | ENSG00000112539.15 | transcript | ENST00000230301.9 | protein_coding | 3239 | chr6 | TogoVar | |||||||
C6orf120_chr6_169697126_169711360 | 169706727 | TACACAC | T | downstream_gene_variant | MODIFIER | HG00423.hp2 HG00544.hp2 HG00621.hp1 others(88): Show |
a0001a0002a0005 | a0001c0001a0002c0003a0005c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(12): Show | a0001c0001t0001g0000 a0001c0001t0002g0000 a0001c0001t0003g0000 others(12): Show |
91 | 416 | 0.2188 | -6 | c.*36 others(17): Show |
C6orf120 | ENSG00000185127.7 | transcript | ENST00000332290.4 | protein_coding | 368 | chr6 | TogoVar | |||||||
C6orf132_chr6_42096119_42147620 | 42104971 | ACTCCTC | A | conservative_inframe_deletion | MODERATE | HG00639.hp1 HG00733.hp1 HG00738.hp1 others(9): Show |
a0007a0013a0014 | a0007c0008a0013c0024a0013c0056others(1): Show | a0007c0008t0005a0013c0024t0004a0013c0056t0033others(1): Show | a0007c0008t0005g0158 a0007c0008t0005g0173 a0007c0008t0005g0174 others(7): Show |
12 | 364 | 0.0330 | -6 | c.293 others(15): Show |
p.Glu others(13): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 4/5 | 3116/6385 | 2935/3567 | 979/1188 | chr6 | TogoVar | |||
C6orf132_chr6_42096119_42147620 | 42117923 | CAAAAAA | C | intron_variant | MODIFIER | HG01243.hp2 HG02280.hp1 HG02572.hp1 others(10): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0003a0003c0015others(5): Show | a0001c0001t0030a0003c0003t0005a0003c0003t0021others(9): Show | a0001c0001t0030g0305 a0003c0003t0005g0205 a0003c0003t0021g0095 others(10): Show |
13 | 364 | 0.0357 | -6 | c.253 others(23): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
C6orf132_chr6_42096119_42147620 | 42119248 | CAAAAAA | C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00423.hp1 others(70): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0003c0005others(14): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0047others(24): Show | a0001c0001t0001g0061 a0001c0001t0001g0091 a0001c0001t0001g0097 others(70): Show |
73 | 364 | 0.2006 | -6 | c.253 others(23): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
C6orf132_chr6_42096119_42147620 | 42123518 | GGGAGGT | G | intron_variant | MODIFIER | HG01243.hp2 HG02976.hp1 HG03225.hp2 others(2): Show |
a0003a0012a0038 | a0003c0016a0012c0013a0038c0053 | a0003c0016t0001a0003c0016t0040a0012c0013t0005others(1): Show | a0003c0016t0001g0233 a0003c0016t0040g0242 a0012c0013t0005g0009 others(2): Show |
5 | 364 | 0.0137 | -6 | c.252 others(23): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 2/4 | chr6 | TogoVar | |||||||
C6orf136_chr6_30642133_30658207 | 30652239 | TCACACA | T | intron_variant | MODIFIER | HG00140.hp2 HG00558.hp2 HG00642.hp1 others(49): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001a0001c0002t0004 | a0001c0001t0001g0008 a0001c0001t0001g0009 a0001c0001t0001g0033 others(11): Show |
52 | 409 | 0.1271 | -6 | c.130 others(23): Show |
C6orf136 | ENSG00000204564.12 | transcript | ENST00000651131.1 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
C6orf62_chr6_24699861_24724154 | 24700840 | CATAAAA | C | downstream_gene_variant | MODIFIER | HG03471.hp1 HG03579.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0010a0001c0001t0020 | a0001c0001t0010g0132 a0001c0001t0010g0141 a0001c0001t0020g0175 |
3 | 414 | 0.0073 | -6 | c.*52 others(17): Show |
C6orf62 | ENSG00000112308.14 | transcript | ENST00000378119.9 | protein_coding | 4020 | chr6 | TogoVar | |||||||
C6orf62_chr6_24699861_24724154 | 24719178 | CACCAAA | C | upstream_gene_variant | MODIFIER | HG00544.hp2 HG01106.hp2 HG02129.hp2 others(17): Show |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0005 a0001c0001t0006g0049 a0001c0001t0006g0168 others(4): Show |
20 | 414 | 0.0483 | -6 | c.-51 others(15): Show |
C6orf62 | ENSG00000112308.14 | transcript | ENST00000378119.9 | protein_coding | 25 | chr6 | TogoVar | |||||||
C6orf62_chr6_24699861_24724154 | 24720294 | CGGCGGG | C | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00621.hp2 HG01928.hp2 others(32): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0029 a0001c0001t0001g0065 others(19): Show |
35 | 414 | 0.0845 | -6 | c.-16 others(17): Show |
C6orf62 | ENSG00000112308.14 | transcript | ENST00000378119.9 | protein_coding | 1141 | chr6 | TogoVar | |||||||
C6orf89_chr6_36880952_36933964 | 36890989 | ACTTTTT | A | intron_variant | MODIFIER | HG00438.hp2 HG00558.hp2 HG00597.hp2 others(120): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(11): Show | a0001c0001t0001g0257 a0001c0001t0002g0002 a0001c0001t0002g0004 others(92): Show |
123 | 396 | 0.3106 | -6 | c.-11 others(25): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
C6orf89_chr6_36880952_36933964 | 36931656 | CTTTTTT | C | downstream_gene_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(62): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0015a0001c0001t0025a0001c0002t0003others(12): Show | a0001c0001t0015g0186 a0001c0001t0025g0180 a0001c0001t0025g0181 others(49): Show |
65 | 396 | 0.1641 | -6 | c.*82 others(17): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 2693 | chr6 | TogoVar | |||||||
C7_chr5_40904497_40989643 | 40922374 | CAAAAAA | C | intron_variant | MODIFIER | HG02630.hp2 HG02647.hp1 HG02818.hp1 others(6): Show |
a0001 | a0001c0001a0001c0027 | a0001c0001t0006a0001c0001t0008a0001c0001t0020others(3): Show | a0001c0001t0006g0287 a0001c0001t0008g0286 a0001c0001t0008g0288 others(6): Show |
9 | 380 | 0.0237 | -6 | c.7-6 others(19): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40945875 | CATATAT | C | intron_variant | MODIFIER | HG00099.hp2 HG00423.hp1 HG00544.hp1 others(69): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0024a0002c0002others(7): Show | a0001c0001t0005a0001c0001t0037a0001c0024t0013others(17): Show | a0001c0001t0005g0321 a0001c0001t0005g0348 a0001c0001t0037g0366 others(69): Show |
72 | 380 | 0.1895 | -6 | c.738 others(21): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 7/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7orf31_chr7_25129692_25185354 | 25177236 | TGATTGG | T | intron_variant | MODIFIER | HG00673.hp2 HG01346.hp2 HG01358.hp1 others(11): Show |
a0001a0003a0019others(1): Show | a0001c0001a0003c0003a0003c0014others(2): Show | a0001c0001t0001a0003c0003t0001a0003c0014t0001others(2): Show | a0001c0001t0001g0179 a0003c0003t0001g0175 a0003c0003t0001g0176 others(9): Show |
14 | 416 | 0.0337 | -6 | c.134 others(23): Show |
C7orf31 | ENSG00000153790.12 | transcript | ENST00000283905.8 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
C7orf33_chr7_148585766_148620860 | 148598725 | GATATAT | G | intron_variant | MODIFIER | HG00423.hp1 HG01515.hp1 HG03491.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0254 a0001c0001t0001g0283 a0001c0001t0002g0183 others(3): Show |
6 | 444 | 0.0135 | -6 | c.204 others(23): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148598759 | TATATAG | T | intron_variant | MODIFIER | HG01928.hp2 NA18954.hp2 NA18990.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003 | a0001c0001t0001g0285 a0001c0001t0001g0399 a0001c0001t0001g0410 others(2): Show |
5 | 444 | 0.0113 | -6 | c.204 others(23): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf33_chr7_148585766_148620860 | 148598763 | TAGAGAG | T | intron_variant | MODIFIER | HG00733.hp2 HG01109.hp2 HG01123.hp2 others(25): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0034 a0001c0001t0001g0053 a0001c0001t0001g0054 others(25): Show |
28 | 444 | 0.0631 | -6 | c.204 others(23): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1011204 | AGACACG | A | intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00558.hp2 others(75): Show |
a0001a0008a0013 | a0001c0001a0008c0005a0013c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0099 a0001c0001t0002g0208 a0001c0001t0002g0209 others(75): Show |
78 | 326 | 0.2393 | -6 | c.130 others(23): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1023624 | AACACAC | A | intron_variant | MODIFIER | HG02723.hp1 HG03225.hp1 HG03834.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0023 a0001c0001t0001g0107 a0001c0001t0002g0279 others(2): Show |
5 | 326 | 0.0153 | -6 | c.130 others(25): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1059571 | GCGGTTC | G | intron_variant | MODIFIER | HG00642.hp2 HG00738.hp2 HG01074.hp1 others(46): Show |
a0001a0008a0009others(2): Show | a0001c0001a0008c0005a0009c0010others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0002 a0001c0001t0002g0208 a0001c0001t0002g0209 others(46): Show |
49 | 326 | 0.1503 | -6 | c.130 others(25): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1072676 | CTTTTTT | C | intron_variant | MODIFIER | HG00639.hp1 HG00639.hp2 HG00642.hp1 others(101): Show |
a0001a0004a0008others(3): Show | a0001c0001a0004c0014a0008c0005others(3): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(20): Show | a0001c0001t0002g0208 a0001c0001t0002g0209 a0001c0001t0002g0211 others(101): Show |
104 | 326 | 0.3190 | -6 | c.129 others(25): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1131191 | TAAAAAA | T | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp2 HG02723.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003a0001c0001t0007 | a0001c0001t0002g0266 a0001c0001t0002g0283 a0001c0001t0003g0243 others(3): Show |
6 | 326 | 0.0184 | -6 | c.-1- others(21): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1136061 | TATATAA | T | intron_variant | MODIFIER | HG01167.hp2 HG01358.hp2 HG02109.hp2 others(20): Show |
a0001a0005a0009others(1): Show | a0001c0001a0005c0007a0009c0010others(1): Show | a0001c0001t0007a0001c0001t0008a0001c0001t0014others(4): Show | a0001c0001t0007g0159 a0001c0001t0007g0160 a0001c0001t0007g0161 others(20): Show |
23 | 326 | 0.0706 | -6 | c.-2+ others(21): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1136115 | CATAAAT | C | intron_variant | MODIFIER | HG01934.hp1 HG02083.hp1 HG02132.hp1 others(24): Show |
a0001a0002a0011others(1): Show | a0001c0001a0002c0002a0011c0011others(1): Show | a0001c0001t0004a0001c0001t0028a0002c0002t0003others(2): Show | a0001c0001t0004g0177 a0001c0001t0004g0178 a0001c0001t0004g0179 others(24): Show |
27 | 326 | 0.0828 | -6 | c.-2+ others(21): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | |||||||
C8A_chr1_56849797_56923223 | 56885364 | ATATATT | A | intron_variant | MODIFIER | HG02735.hp2 HG03669.hp2 HG04228.hp1 others(1): Show |
a0008a0020 | a0008c0007a0020c0015 | a0008c0007t0004a0020c0015t0007 | a0008c0007t0004g0052 a0008c0007t0004g0054 a0008c0007t0004g0056 others(1): Show |
4 | 366 | 0.0109 | -6 | c.856 others(21): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C8A_chr1_56849797_56923223 | 56885374 | ATTTATT | A | intron_variant | MODIFIER | HG01168.hp2 HG01433.hp2 HG03209.hp1 others(4): Show |
a0001a0003a0019 | a0001c0001a0003c0003a0019c0019 | a0001c0001t0001a0003c0003t0002a0019c0019t0001 | a0001c0001t0001g0097 a0001c0001t0001g0098 a0001c0001t0001g0120 others(4): Show |
7 | 366 | 0.0191 | -6 | c.856 others(21): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 6/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
C8B_chr1_56924207_56971015 | 56928894 | TCACACA | T | downstream_gene_variant | MODIFIER | HG00408.hp1 HG02080.hp1 NA18952.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0042 a0001c0001t0001g0195 |
6 | 402 | 0.0149 | -6 | c.*50 others(15): Show |
C8B | ENSG00000021852.14 | transcript | ENST00000371237.9 | protein_coding | 312 | chr1 | TogoVar | |||||||
C8B_chr1_56924207_56971015 | 56928926 | ACACATG | A | downstream_gene_variant | MODIFIER | HG01256.hp1 HG01258.hp2 HG01261.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0020 a0001c0001t0002g0062 |
4 | 402 | 0.0100 | -6 | c.*47 others(15): Show |
C8B | ENSG00000021852.14 | transcript | ENST00000371237.9 | protein_coding | 280 | chr1 | TogoVar | |||||||
C8orf33_chr8_145047467_145061030 | 145052301 | CCGCCCG | C | upstream_gene_variant | MODIFIER | HG01934.hp2 HG01943.hp1 NA18942.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 6 | 406 | 0.0148 | -6 | c.-19 others(15): Show |
C8orf33 | ENSG00000182307.14 | transcript | ENST00000331434.7 | protein_coding | 165 | chr8 | TogoVar | |||||||
C8orf34_chr8_68325955_68824023 | 68377401 | TAAGGAG | T | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp1 HG01071.hp1 others(76): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0005others(10): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(23): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(76): Show |
79 | 128 | 0.6172 | -6 | c.327 others(25): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68466513 | GAAATAA | G | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00735.hp1 others(42): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(12): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(42): Show |
45 | 128 | 0.3516 | -6 | c.608 others(23): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 3/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68471925 | AACACAC | A | intron_variant | MODIFIER | HG00558.hp2 HG02258.hp2 HG02615.hp1 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0003others(1): Show | a0001c0001t0001a0001c0001t0004a0001c0002t0002others(2): Show | a0001c0001t0001g0083 a0001c0001t0001g0113 a0001c0001t0004g0111 others(5): Show |
8 | 128 | 0.0625 | -6 | c.736 others(23): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 4/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68567577 | CTTTTTT | C | intron_variant | MODIFIER | HG01346.hp2 HG02165.hp2 HG02698.hp2 others(1): Show |
a0001a0008 | a0001c0001a0001c0002a0008c0017 | a0001c0001t0001a0001c0002t0001a0008c0017t0001 | a0001c0001t0001g0021 a0001c0001t0001g0030 a0001c0002t0001g0084 others(1): Show |
4 | 128 | 0.0313 | -6 | c.110 others(27): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68572234 | GACACAC | G | intron_variant | MODIFIER | HG02055.hp1 HG02109.hp2 HG02258.hp2 others(18): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(8): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0004 others(18): Show |
21 | 128 | 0.1641 | -6 | c.110 others(27): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68592593 | CTTCTTT | C | intron_variant | MODIFIER | HG01081.hp2 HG01891.hp2 HG01943.hp2 others(5): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(3): Show | a0001c0001t0001g0052 a0001c0001t0001g0094 a0001c0001t0003g0077 others(5): Show |
8 | 128 | 0.0625 | -6 | c.110 others(27): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68661965 | TAAAATA | T | intron_variant | MODIFIER | HG00558.hp2 HG00609.hp2 HG00735.hp1 others(34): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0002a0001c0005others(7): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0011 a0001c0001t0001g0012 a0001c0001t0001g0024 others(34): Show |
37 | 128 | 0.2891 | -6 | c.124 others(27): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |