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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C5_chr9_120947335_121055275 | 121018740 | G | GGAAAGAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00438.hp1 HG00621.hp2 others(20): Show |
a0003a0010 | a0003c0003a0003c0004a0010c0012 | a0003c0003t0001a0003c0004t0001a0010c0012t0001 | a0003c0003t0001g0001 a0003c0003t0001g0002 a0003c0003t0001g0013 others(17): Show |
23 | 178 | 0.1292 | 8 | c.150 others(25): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 12/40 | chr9 | TogoVar | |||||||
C5_chr9_120947335_121055275 | 121018742 | A | AAAGAAAG others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG00735.hp2 HG01069.hp1 others(40): Show |
a0002a0003a0005others(1): Show | a0002c0002a0003c0003a0005c0007others(1): Show | a0002c0002t0001a0003c0003t0001a0005c0007t0001others(1): Show | a0002c0002t0001g0073 a0002c0002t0001g0110 a0002c0002t0001g0113 others(40): Show |
43 | 188 | 0.2287 | 8 | c.150 others(25): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 12/40 | chr9 | TogoVar | |||||||
C5_chr9_120947335_121055275 | 121025419 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00621.hp1 others(80): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0006a0002c0002others(7): Show | a0001c0001t0001a0001c0006t0001a0002c0002t0001others(7): Show | a0001c0001t0001g0069 a0001c0001t0001g0089 a0001c0001t0001g0091 others(80): Show |
83 | 120 | 0.6917 | 8 | c.100 others(23): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 9/40 | chr9 | TogoVar | |||||||
C5_chr9_120947335_121055275 | 121041297 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG01175.hp2 HG02027.hp1 HG02258.hp2 others(6): Show |
a0001a0003a0006others(2): Show | a0001c0001a0001c0006a0003c0003others(3): Show | a0001c0001t0001a0001c0006t0001a0003c0003t0001others(3): Show | a0001c0001t0001g0074 a0001c0006t0001g0195 a0001c0006t0001g0196 others(6): Show |
9 | 54 | 0.1667 | 8 | c.421 others(25): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 3/40 | chr9 | TogoVar | |||||||
C5orf22_chr5_31527301_31560053 | 31541105 | A | AGTGTGTG others(1): Show |
intron_variant | MODIFIER | HG00423.hp1 HG00438.hp2 HG01934.hp1 others(9): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0011 | a0001c0001t0006g0023 a0001c0001t0006g0045 a0001c0001t0006g0046 others(4): Show |
12 | 141 | 0.0851 | 8 | c.870 others(23): Show |
C5orf22 | ENSG00000082213.18 | transcript | ENST00000325366.14 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C5orf24_chr5_134840968_134864735 | 134850994 | A | ATATTTAT others(1): Show |
intron_variant | MODIFIER | HG02056.hp2 HG02132.hp1 HG03579.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0012 a0001c0001t0001g0060 a0001c0001t0001g0088 others(2): Show |
8 | 307 | 0.0261 | 8 | c.-3- others(23): Show |
C5orf24 | ENSG00000181904.9 | transcript | ENST00000394976.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C5orf24_chr5_134840968_134864735 | 134856640 | C | CAAATAAA others(1): Show |
3_prime_UTR_variant | MODIFIER | HG02071.hp2 HG02717.hp2 HG02965.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0031 | a0001c0001t0007g0001 a0001c0001t0007g0051 a0001c0001t0007g0119 others(3): Show |
6 | 233 | 0.0258 | 8 | c.*12 others(19): Show |
C5orf24 | ENSG00000181904.9 | transcript | ENST00000394976.4 | protein_coding | 2/2 | 1217 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C5orf34_chr5_43481709_43520148 | 43519819 | T | TTGTGTGT others(1): Show |
upstream_gene_variant | MODIFIER | HG01167.hp2 HG01943.hp1 HG02572.hp2 others(12): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0005 | a0001c0001t0001a0001c0001t0004a0001c0001t0008others(3): Show | a0001c0001t0001g0012 a0001c0001t0001g0125 a0001c0001t0001g0129 others(11): Show |
15 | 119 | 0.1261 | 8 | c.-50 others(19): Show |
C5orf34 | ENSG00000172244.9 | transcript | ENST00000306862.7 | protein_coding | 4672 | chr5 | TogoVar | |||||||
C5orf46_chr5_147887722_147911538 | 147911208 | G | GTCTTCTA others(1): Show |
upstream_gene_variant | MODIFIER | HG02818.hp1 HG02895.hp2 HG03195.hp1 |
a0002 | a0002c0003 | a0002c0003t0001a0002c0003t0002 | a0002c0003t0001g0014 a0002c0003t0002g0012 |
3 | 75 | 0.0400 | 8 | c.-47 others(19): Show |
C5orf46 | ENSG00000178776.5 | transcript | ENST00000318315.5 | protein_coding | 4671 | chr5 | TogoVar | |||||||
C5orf52_chr5_157666533_157685158 | 157669486 | T | TTTTATTT others(1): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01255.hp2 HG01496.hp1 others(22): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0001a0001c0001t0003a0002c0002t0001others(2): Show | a0001c0001t0001g0001 a0001c0001t0001g0005 a0001c0001t0001g0031 others(9): Show |
25 | 119 | 0.2101 | 8 | c.-21 others(19): Show |
C5orf52 | ENSG00000187658.7 | transcript | ENST00000409999.4 | protein_coding | 2046 | chr5 | TogoVar | |||||||
C5orf52_chr5_157666533_157685158 | 157669486 | T | TTTTTTTT others(1): Show |
upstream_gene_variant | MODIFIER | HG02109.hp2 HG02280.hp2 HG02622.hp1 others(2): Show |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0010 a0002c0002t0001g0044 |
5 | 99 | 0.0505 | 8 | c.-21 others(19): Show |
C5orf52 | ENSG00000187658.7 | transcript | ENST00000409999.4 | protein_coding | 2046 | chr5 | TogoVar | |||||||
C5orf58_chr5_170227985_170251231 | 170249362 | G | GTATATAT others(1): Show |
downstream_gene_variant | MODIFIER | HG02965.hp2 NA18612.hp2 NA18960.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015 a0001c0001t0001g0037 a0001c0001t0001g0038 others(2): Show |
11 | 371 | 0.0296 | 8 | c.*32 others(19): Show |
C5orf58 | ENSG00000234511.11 | transcript | ENST00000593851.5 | protein_coding | 3132 | chr5 | TogoVar | |||||||
C5orf63_chr5_127046304_127078502 | 127048246 | G | GACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG02818.hp2 HG03486.hp1 HG03516.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0014 a0001c0001t0003g0007 a0001c0001t0003g0070 |
3 | 106 | 0.0283 | 8 | c.*35 others(19): Show |
C5orf63 | ENSG00000164241.14 | transcript | ENST00000296662.10 | protein_coding | 3057 | chr5 | TogoVar | |||||||
C6_chr5_41137116_41218532 | 41187699 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01496.hp2 HG01515.hp1 HG01517.hp1 others(19): Show |
a0002a0004 | a0002c0002a0002c0014a0004c0008 | a0002c0002t0001a0002c0002t0003a0002c0002t0008others(4): Show | a0002c0002t0001g0158 a0002c0002t0001g0159 a0002c0002t0001g0166 others(15): Show |
22 | 183 | 0.1202 | 8 | c.588 others(25): Show |
C6 | ENSG00000039537.16 | transcript | ENST00000337836.10 | protein_coding | 5/17 | chr5 | TogoVar | |||||||
C6_chr5_41137116_41218532 | 41202809 | A | AAAGCTTG others(1): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02055.hp2 HG02145.hp1 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 a0001c0001t0001g0238 a0001c0001t0001g0239 others(6): Show |
10 | 400 | 0.0250 | 8 | c.143 others(23): Show |
C6 | ENSG00000039537.16 | transcript | ENST00000337836.10 | protein_coding | 2/17 | chr5 | TogoVar | |||||||
C6orf118_chr6_165274664_165314605 | 165276424 | G | GACACACA others(1): Show |
downstream_gene_variant | MODIFIER | HG02970.hp2 HG02976.hp1 HG03453.hp1 others(1): Show |
a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0027 a0002c0004t0001g0101 a0002c0004t0001g0114 |
4 | 113 | 0.0354 | 8 | c.*36 others(19): Show |
C6orf118 | ENSG00000112539.15 | transcript | ENST00000230301.9 | protein_coding | 3239 | chr6 | TogoVar | |||||||
C6orf132_chr6_42096119_42147620 | 42109430 | C | CAAATAAA others(1): Show |
intron_variant | MODIFIER | HG00733.hp2 HG01074.hp2 HG01106.hp1 others(23): Show |
a0001a0003a0012others(1): Show | a0001c0051a0003c0004a0003c0009others(2): Show | a0001c0051t0002a0003c0004t0004a0003c0004t0011others(10): Show | a0001c0051t0002g0268 a0003c0004t0004g0086 a0003c0004t0004g0096 others(22): Show |
26 | 353 | 0.0737 | 8 | c.328 others(23): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
C6orf132_chr6_42096119_42147620 | 42132856 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00423.hp2 HG00639.hp1 others(27): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0016others(10): Show | a0001c0001t0001g0099 a0001c0001t0001g0207 a0001c0001t0001g0257 others(24): Show |
30 | 334 | 0.0898 | 8 | c.146 others(25): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
C6orf132_chr6_42096119_42147620 | 42138850 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00733.hp1 HG02630.hp1 HG03130.hp1 others(6): Show |
a0001a0002a0003others(2): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0001a0002c0002t0002a0002c0002t0028others(5): Show | a0001c0001t0001g0170 a0001c0001t0001g0282 a0002c0002t0002g0227 others(6): Show |
9 | 10 | 0.9000 | 8 | c.145 others(25): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 1/4 | chr6 | TogoVar | |||||||
C6orf163_chr6_87339813_87370463 | 87345916 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG01070.hp2 HG01884.hp2 HG02040.hp2 others(4): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0032 a0001c0001t0001g0092 a0001c0001t0001g0102 others(2): Show |
7 | 231 | 0.0303 | 8 | c.148 others(23): 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(1): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 HG00609.hp1 HG01099.hp1 others(49): Show |
a0001a0003 | a0001c0001a0001c0007a0003c0003 | a0001c0001t0001a0001c0001t0002a0001c0007t0001others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0003 a0001c0001t0001g0007 others(24): Show |
52 | 102 | 0.5098 | 8 | c.*10 others(19): Show |
C6orf58 | ENSG00000184530.9 | transcript | ENST00000329722.8 | protein_coding | 871 | chr6 | TogoVar | |||||||
C6orf62_chr6_24699861_24724154 | 24711239 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG01981.hp2 HG02145.hp1 HG02148.hp2 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0018 a0001c0001t0005g0058 a0001c0001t0005g0061 others(3): Show |
8 | 391 | 0.0205 | 8 | c.430 others(25): Show |
C6orf62 | ENSG00000112308.14 | transcript | ENST00000378119.9 | protein_coding | 3/4 | chr6 | TogoVar | |||||||
C6orf89_chr6_36880952_36933964 | 36889582 | C | CAAAAAAA others(1): Show |
intron_variant | MODIFIER | HG00735.hp1 HG01109.hp2 HG01168.hp1 others(24): Show |
a0001 | a0001c0002a0001c0003 | a0001c0002t0003a0001c0002t0005a0001c0002t0016others(7): Show | a0001c0002t0003g0073 a0001c0002t0003g0074 a0001c0002t0003g0167 others(21): Show |
27 | 293 | 0.0922 | 8 | c.-12 others(27): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 1/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
C6orf89_chr6_36880952_36933964 | 36901323 | T | TATTATTA others(1): Show |
intron_variant | MODIFIER | HG03130.hp2 HG03540.hp1 NA21309.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0025 | a0001c0001t0015g0016 a0001c0001t0015g0170 a0001c0001t0025g0169 |
3 | 382 | 0.0079 | 8 | c.190 others(23): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 3/8 | chr6 | TogoVar | |||||||
C6orf89_chr6_36880952_36933964 | 36917712 | T | TGCCTCAG others(1): Show |
intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(119): Show |
a0001a0002a0004 | a0001c0002a0001c0003a0002c0006others(1): Show | a0001c0002t0003a0001c0002t0005a0001c0002t0009others(20): Show | a0001c0002t0003g0002 a0001c0002t0003g0008 a0001c0002t0003g0014 others(84): Show |
122 | 394 | 0.3096 | 8 | c.825 others(25): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 7/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40918949 | G | GACACACA others(1): Show |
intron_variant | MODIFIER | HG01074.hp2 HG01496.hp2 HG01981.hp2 others(10): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0001a0001c0001t0004a0002c0002t0001others(4): Show | a0001c0001t0001g0211 a0001c0001t0001g0214 a0001c0001t0001g0251 others(10): Show |
13 | 36 | 0.3611 | 8 | c.6+9 others(21): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40952478 | T | TTTTATTT others(1): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00741.hp2 HG01346.hp2 others(3): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(1): Show | a0001c0001t0002a0002c0002t0002a0003c0003t0003others(2): Show | a0001c0001t0002g0007 a0002c0002t0002g0071 a0002c0002t0002g0072 others(3): Show |
6 | 249 | 0.0241 | 8 | c.109 others(27): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
C7orf31_chr7_25129692_25185354 | 25148477 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00408.hp2 HG00597.hp2 others(96): Show |
a0001a0002a0007others(4): Show | a0001c0001a0002c0002a0007c0005others(4): Show | a0001c0001t0001a0001c0001t0015a0002c0002t0001others(5): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(68): Show |
99 | 220 | 0.4500 | 8 | c.684 others(25): Show |
C7orf31 | ENSG00000153790.12 | transcript | ENST00000283905.8 | protein_coding | 7/9 | chr7 | TogoVar | |||||||
C7orf31_chr7_25129692_25185354 | 25166233 | C | CTTTTTTT others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG00323.hp2 HG00408.hp2 others(191): Show |
a0001a0002a0003others(11): Show | a0001c0001a0002c0002a0002c0025others(12): Show | a0001c0001t0001a0001c0001t0017a0002c0002t0001others(19): Show | a0001c0001t0001g0005 a0001c0001t0001g0006 a0001c0001t0001g0009 others(135): Show |
194 | 274 | 0.7080 | 8 | c.311 others(25): Show |
C7orf31 | ENSG00000153790.12 | transcript | ENST00000283905.8 | protein_coding | 3/9 | chr7 | TogoVar | |||||||
C7orf31_chr7_25129692_25185354 | 25179042 | A | AAAACAAA others(1): Show |
intron_variant | MODIFIER | HG00140.hp2 HG01070.hp2 HG01071.hp1 others(87): Show |
a0002a0005a0006others(5): Show | a0002c0002a0005c0006a0005c0010others(6): Show | a0002c0002t0001a0002c0002t0010a0002c0002t0012others(11): Show | a0002c0002t0001g0007 a0002c0002t0001g0010 a0002c0002t0001g0016 others(68): Show |
90 | 380 | 0.2368 | 8 | c.134 others(23): Show |
C7orf31 | ENSG00000153790.12 | transcript | ENST00000283905.8 | protein_coding | 2/9 | chr7 | TogoVar | |||||||
C7orf33_chr7_148585766_148620860 | 148606933 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00544.hp1 HG00673.hp2 HG00733.hp1 others(22): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0030 a0001c0001t0001g0051 a0001c0001t0001g0119 others(20): Show |
25 | 64 | 0.3906 | 8 | c.205 others(25): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1008895 | C | CACACATG others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG01891.hp2 others(4): Show |
a0001a0008 | a0001c0001a0008c0007 | a0001c0001t0005a0001c0001t0008a0001c0001t0016others(2): Show | a0001c0001t0005g0297 a0001c0001t0005g0308 a0001c0001t0008g0116 others(4): Show |
7 | 324 | 0.0216 | 8 | c.323 others(25): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1008903 | T | TACACACG others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00323.hp2 others(224): Show |
a0001a0002a0003others(4): Show | a0001c0001a0002c0002a0003c0009others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(28): Show | a0001c0001t0001g0029 a0001c0001t0001g0047 a0001c0001t0001g0048 others(224): Show |
227 | 317 | 0.7161 | 8 | c.323 others(25): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 3/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016090 | C | CACACGCC others(1): Show |
intron_variant | MODIFIER | HG00323.hp2 HG00438.hp2 HG00558.hp2 others(101): Show |
a0001a0002a0007others(1): Show | a0001c0001a0002c0002a0007c0004others(1): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(15): Show | a0001c0001t0002g0213 a0001c0001t0002g0216 a0001c0001t0002g0218 others(101): Show |
104 | 324 | 0.3210 | 8 | c.130 others(25): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016171 | A | ACAGCAGC others(1): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02976.hp2 HG03579.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0204 a0001c0001t0005g0268 a0001c0001t0005g0311 |
3 | 204 | 0.0147 | 8 | c.130 others(25): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1016426 | C | CGCACAGC others(1): Show |
intron_variant | MODIFIER | HG00639.hp2 HG01109.hp2 HG02630.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0008a0001c0001t0016others(1): Show | a0001c0001t0005g0297 a0001c0001t0005g0308 a0001c0001t0008g0116 others(2): Show |
5 | 289 | 0.0173 | 8 | c.130 others(25): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1023624 | A | AACACACA others(1): Show |
intron_variant | MODIFIER | HG00280.hp1 HG00741.hp2 HG02809.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(1): Show | a0001c0001t0001g0002 a0001c0001t0001g0049 a0001c0001t0001g0064 others(6): Show |
9 | 46 | 0.1957 | 8 | c.130 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1070815 | C | CCACATGT others(1): Show |
intron_variant | MODIFIER | HG01934.hp1 HG02083.hp1 HG02132.hp1 others(24): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0021others(1): Show | a0001c0001t0001g0029 a0001c0001t0004g0176 a0001c0001t0004g0177 others(24): Show |
27 | 313 | 0.0863 | 8 | c.129 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1070825 | A | ACACGTGC others(1): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00558.hp2 others(182): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0003c0009others(5): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(25): Show | a0001c0001t0002g0209 a0001c0001t0002g0213 a0001c0001t0002g0216 others(182): Show |
185 | 292 | 0.6336 | 8 | c.129 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf50_chr7_992006_1143247 | 1070825 | A | ACATGTGC others(1): Show |
intron_variant | MODIFIER | HG02055.hp1 HG02280.hp2 HG03130.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0019 | a0001c0001t0003g0269 a0001c0001t0003g0281 a0001c0001t0019g0324 others(1): Show |
4 | 111 | 0.0360 | 8 | c.129 others(27): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | |||||||
C7orf57_chr7_48030543_48066297 | 48031832 | G | GCACACAC others(1): Show |
upstream_gene_variant | MODIFIER | HG00639.hp1 HG01261.hp1 HG01358.hp1 others(17): Show |
a0001a0002a0003 | a0001c0002a0002c0001a0003c0003 | a0001c0002t0001a0002c0001t0001a0002c0001t0002others(2): Show | a0001c0002t0001g0048 a0001c0002t0001g0194 a0001c0002t0001g0198 others(16): Show |
20 | 218 | 0.0917 | 8 | c.-39 others(19): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 3710 | chr7 | TogoVar | |||||||
C7orf57_chr7_48030543_48066297 | 48037749 | C | CTGTGTGT others(1): Show |
intron_variant | MODIFIER | HG00639.hp1 HG01884.hp2 HG02055.hp2 others(28): Show |
a0001a0002a0003 | a0001c0002a0001c0004a0002c0001others(1): Show | a0001c0002t0001a0001c0004t0001a0002c0001t0001others(2): Show | a0001c0002t0001g0028 a0001c0002t0001g0029 a0001c0002t0001g0058 others(23): Show |
31 | 255 | 0.1216 | 8 | c.55+ others(23): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48038381 | C | CATATATA others(1): Show |
intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00323.hp1 others(88): Show |
a0001a0002a0005others(1): Show | a0001c0002a0002c0001a0005c0008others(1): Show | a0001c0002t0001a0002c0001t0001a0002c0001t0002others(5): Show | a0001c0002t0001g0065 a0002c0001t0001g0063 a0002c0001t0001g0064 others(75): Show |
91 | 384 | 0.2370 | 8 | c.55+ others(23): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48038383 | T | TATAGATA others(1): Show |
intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 HG02451.hp2 others(9): Show |
a0001a0003 | a0001c0002a0003c0003 | a0001c0002t0001a0003c0003t0001 | a0001c0002t0001g0026 a0001c0002t0001g0173 a0001c0002t0001g0174 others(7): Show |
12 | 254 | 0.0472 | 8 | c.55+ others(23): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48038383 | T | TATATATA others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00673.hp1 others(35): Show |
a0002 | a0002c0001 | a0002c0001t0001a0002c0001t0002a0002c0001t0010 | a0002c0001t0001g0013 a0002c0001t0001g0030 a0002c0001t0001g0031 others(29): Show |
38 | 280 | 0.1357 | 8 | c.55+ others(23): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48051750 | T | TTTTCTTT others(1): Show |
intron_variant | MODIFIER | HG00438.hp1 HG01952.hp1 HG02559.hp2 others(6): Show |
a0002a0003 | a0002c0001a0003c0003 | a0002c0001t0001a0003c0003t0001 | a0002c0001t0001g0031 a0002c0001t0001g0291 a0003c0003t0001g0072 others(5): Show |
9 | 318 | 0.0283 | 8 | c.606 others(23): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48051795 | T | TTTCCTTC others(1): Show |
intron_variant | MODIFIER | HG00642.hp2 HG01106.hp1 HG01358.hp1 others(6): Show |
a0002 | a0002c0001 | a0002c0001t0002 | a0002c0001t0002g0039 a0002c0001t0002g0206 a0002c0001t0002g0256 others(6): Show |
9 | 312 | 0.0288 | 8 | c.606 others(23): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48051817 | C | CTCTTTCT others(1): Show |
intron_variant | MODIFIER | HG01346.hp1 HG02074.hp2 HG02572.hp2 others(5): Show |
a0001a0003 | a0001c0002a0003c0003 | a0001c0002t0001a0003c0003t0001 | a0001c0002t0001g0044 a0001c0002t0001g0112 a0001c0002t0001g0121 others(5): Show |
8 | 239 | 0.0335 | 8 | c.606 others(23): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48062480 | C | CATAAATA others(1): Show |
downstream_gene_variant | MODIFIER | HG00408.hp2 HG00597.hp2 HG00621.hp2 others(81): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0004a0002c0001others(2): Show | a0001c0002t0001a0001c0002t0003a0001c0004t0001others(4): Show | a0001c0002t0001g0001 a0001c0002t0001g0002 a0001c0002t0001g0006 others(64): Show |
84 | 312 | 0.2692 | 8 | c.*22 others(19): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 1184 | chr7 | TogoVar | |||||||
C8A_chr1_56849797_56923223 | 56857303 | T | TACACACA others(1): Show |
intron_variant | MODIFIER | HG00323.hp1 HG01243.hp1 HG01515.hp1 others(4): Show |
a0001a0008a0020 | a0001c0001a0008c0007a0020c0015 | a0001c0001t0001a0008c0007t0004a0020c0015t0007 | a0001c0001t0001g0089 a0001c0001t0001g0090 a0001c0001t0001g0091 others(4): Show |
7 | 112 | 0.0625 | 8 | c.77+ others(23): Show |
C8A | ENSG00000157131.12 | transcript | ENST00000361249.4 | protein_coding | 1/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar |