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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
C4orf50_chr4_5954375_6023431 | 6004477 | GAGCAC | G | intron_variant | MODIFIER | HG02257.hp2 HG02922.hp1 HG03471.hp1 others(2): Show |
a0001a0022a0031others(1): Show | a0001c0001a0022c0022a0031c0033others(1): Show | a0001c0001t0000a0022c0022t0000a0031c0033t0000others(1): Show | a0001c0001t0000g0159a0001c0001t0000g0218a0022c0022t0000g0065others(2): Show | 5 | 346 | 0.0145 | -5 | c.963 others(22): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C4orf50_chr4_5954375_6023431 | 6004479 | GCACAA | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00140.hp2 others(151): Show |
a0001a0002a0003others(66): Show | a0001c0001a0001c0106a0002c0002others(72): Show | a0001c0001t0000a0001c0106t0000a0002c0002t0000others(72): Show | a0001c0001t0000g0015a0001c0001t0000g0032a0001c0001t0000g0079others(145): Show | 154 | 346 | 0.4451 | -5 | c.963 others(22): Show |
C4orf50 | ENSG00000181215.17 | transcript | ENST00000711657.1 | protein_coding | 3/11 | chr4 | TogoVar | ||||||
C5AR2_chr19_47327175_47352329 | 47335798 | AAAAAG | A | intron_variant | MODIFIER | NA18612.hp1 NA18986.hp1 NA19057.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0084 | a0001c0001t0001g0012a0001c0001t0002g0012a0001c0001t0002g0068others(2): Show | 7 | 406 | 0.0172 | -5 | c.-16 others(22): Show |
C5AR2 | ENSG00000134830.6 | transcript | ENST00000595464.3 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
C5_chr9_120947335_121055275 | 120987680 | TTAAAG | T | intron_variant | MODIFIER | HG00099.hp2 HG00738.hp2 HG01169.hp1 others(7): Show |
a0001a0019 | a0001c0001a0001c0018a0019c0021 | a0001c0001t0001a0001c0018t0001a0019c0021t0001 | a0001c0001t0001g0010a0001c0001t0001g0243a0001c0001t0001g0246others(6): Show | 10 | 276 | 0.0362 | -5 | c.323 others(24): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 25/40 | chr9 | TogoVar | ||||||
C5_chr9_120947335_121055275 | 121018252 | CAAAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp2 HG00639.hp1 others(14): Show |
a0001a0004a0008others(1): Show | a0001c0006a0004c0005a0008c0010others(1): Show | a0001c0006t0001a0004c0005t0001a0004c0005t0002others(2): Show | a0001c0006t0001g0194a0001c0006t0001g0195a0001c0006t0001g0196others(13): Show | 17 | 276 | 0.0616 | -5 | c.150 others(22): Show |
C5 | ENSG00000106804.10 | transcript | ENST00000223642.3 | protein_coding | 12/40 | chr9 | TogoVar | ||||||
C5orf15_chr5_133950510_133973625 | 133958815 | ATAAAT | A | intron_variant | MODIFIER | HG02895.hp1 HG03195.hp2 HG03453.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0050a0001c0001t0003g0161a0001c0001t0003g0213 | 4 | 438 | 0.0091 | -5 | c.666 others(20): Show |
C5orf15 | ENSG00000113583.8 | transcript | ENST00000231512.5 | protein_coding | 2/2 | chr5 | TogoVar | ||||||
C5orf22_chr5_31527301_31560053 | 31554635 | ATAAGT | A | 3_prime_UTR_variant | MODIFIER | HG01255.hp1 HG02055.hp1 HG02257.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0012a0001c0001t0013 | a0001c0001t0012g0038a0001c0001t0012g0104a0001c0001t0013g0086others(2): Show | 6 | 404 | 0.0149 | -5 | c.*17 others(16): Show |
C5orf22 | ENSG00000082213.18 | transcript | ENST00000325366.14 | protein_coding | 9/9 | 1737 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
C5orf24_chr5_134840968_134864735 | 134849516 | CATATT | C | intron_variant | MODIFIER | HG02809.hp1 HG02895.hp2 HG02897.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003 | a0001c0001t0001g0191a0001c0001t0001g0192a0001c0001t0001g0193others(2): Show | 5 | 402 | 0.0124 | -5 | c.-4+ others(20): Show |
C5orf24 | ENSG00000181904.9 | transcript | ENST00000394976.4 | protein_coding | 1/1 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C5orf46_chr5_147887722_147911538 | 147911208 | GTCTAT | G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG01070.hp2 others(27): Show |
a0001a0002a0003 | a0001c0001a0002c0003a0002c0004others(1): Show | a0001c0001t0001a0002c0003t0001a0002c0004t0001others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0010others(16): Show | 30 | 452 | 0.0664 | -5 | c.-47 others(16): Show |
C5orf46 | ENSG00000178776.5 | transcript | ENST00000318315.5 | protein_coding | 4671 | chr5 | TogoVar | ||||||
C5orf47_chr5_173984170_174011140 | 173987021 | CTTTTT | C | upstream_gene_variant | MODIFIER | HG00642.hp2 HG01069.hp2 HG01071.hp1 others(39): Show |
a0001a0004 | a0001c0001a0004c0005 | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(2): Show | a0001c0001t0001g0045a0001c0001t0002g0005a0001c0001t0002g0006others(14): Show | 42 | 382 | 0.1100 | -5 | c.-22 others(16): Show |
C5orf47 | ENSG00000185056.10 | transcript | ENST00000340147.7 | protein_coding | 2148 | chr5 | TogoVar | ||||||
C5orf47_chr5_173984170_174011140 | 173987766 | CAAAAG | C | upstream_gene_variant | MODIFIER | HG02040.hp1 NA18949.hp1 NA18955.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0010a0001c0001t0001g0027 | 7 | 382 | 0.0183 | -5 | c.-14 others(16): Show |
C5orf47 | ENSG00000185056.10 | transcript | ENST00000340147.7 | protein_coding | 1403 | chr5 | TogoVar | ||||||
C5orf63_chr5_127046304_127078502 | 127053360 | ATTTAT | A | intron_variant | MODIFIER | HG00639.hp2 HG01243.hp1 HG01433.hp1 others(27): Show |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0010a0001c0001t0002g0029a0001c0001t0002g0086others(13): Show | 30 | 350 | 0.0857 | -5 | c.115 others(20): Show |
C5orf63 | ENSG00000164241.14 | transcript | ENST00000296662.10 | protein_coding | 3/4 | chr5 | TogoVar | ||||||
C6_chr5_41137116_41218532 | 41155875 | AATAAT | A | intron_variant | MODIFIER | HG00609.hp2 NA18949.hp2 NA18965.hp1 others(6): Show |
a0003a0013 | a0003c0004a0013c0025 | a0003c0004t0001a0013c0025t0001 | a0003c0004t0001g0008a0003c0004t0001g0157a0003c0004t0001g0158others(4): Show | 9 | 402 | 0.0224 | -5 | c.196 others(22): Show |
C6 | ENSG00000039537.16 | transcript | ENST00000337836.10 | protein_coding | 13/17 | chr5 | TogoVar | ||||||
C6_chr5_41137116_41218532 | 41178442 | ATTTTC | A | intron_variant | MODIFIER | HG01884.hp2 HG02109.hp2 HG02809.hp2 others(4): Show |
a0001a0010 | a0001c0001a0010c0012 | a0001c0001t0004a0010c0012t0004 | a0001c0001t0004g0020a0001c0001t0004g0081a0001c0001t0004g0137others(3): Show | 7 | 402 | 0.0174 | -5 | c.928 others(22): Show |
C6 | ENSG00000039537.16 | transcript | ENST00000337836.10 | protein_coding | 7/17 | chr5 | TogoVar | ||||||
C6_chr5_41137116_41218532 | 41178497 | GACAGA | G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00323.hp1 others(279): Show |
a0001a0002a0003others(13): Show | a0001c0001a0001c0006a0001c0011others(19): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(30): Show | a0001c0001t0001g0001a0001c0001t0001g0005a0001c0001t0001g0011others(235): Show | 282 | 402 | 0.7015 | -5 | c.928 others(22): Show |
C6 | ENSG00000039537.16 | transcript | ENST00000337836.10 | protein_coding | 7/17 | chr5 | TogoVar | ||||||
C6_chr5_41137116_41218532 | 41200888 | GTTGTT | G | intron_variant | MODIFIER | HG00140.hp1 HG01123.hp1 HG02145.hp2 others(3): Show |
a0001a0002a0012 | a0001c0003a0002c0002a0012c0009 | a0001c0003t0001a0002c0002t0003a0012c0009t0001 | a0001c0003t0001g0118a0001c0003t0001g0119a0001c0003t0001g0124others(3): Show | 6 | 402 | 0.0149 | -5 | c.300 others(20): Show |
C6 | ENSG00000039537.16 | transcript | ENST00000337836.10 | protein_coding | 3/17 | chr5 | TogoVar | ||||||
C6_chr5_41137116_41218532 | 41200891 | GTTTTT | G | intron_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG01070.hp1 others(25): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0003t0001 | a0001c0001t0001g0032a0001c0001t0001g0140a0001c0001t0001g0252others(23): Show | 28 | 402 | 0.0697 | -5 | c.300 others(20): Show |
C6 | ENSG00000039537.16 | transcript | ENST00000337836.10 | protein_coding | 3/17 | chr5 | TogoVar | ||||||
C6orf118_chr6_165274664_165314605 | 165296250 | GTTTTT | G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(127): Show |
a0002a0003a0005others(3): Show | a0002c0002a0002c0004a0002c0005others(5): Show | a0002c0002t0001a0002c0002t0003a0002c0004t0001others(8): Show | a0002c0002t0001g0002a0002c0002t0001g0004a0002c0002t0001g0006others(92): Show | 130 | 360 | 0.3611 | -5 | c.106 others(24): Show |
C6orf118 | ENSG00000112539.15 | transcript | ENST00000230301.9 | protein_coding | 5/8 | chr6 | TogoVar | ||||||
C6orf132_chr6_42096119_42147620 | 42119248 | CAAAAA | C | intron_variant | MODIFIER | HG00741.hp1 HG01243.hp2 HG02723.hp1 others(8): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(4): Show | a0001c0001t0048a0002c0002t0002a0002c0002t0003others(6): Show | a0001c0001t0048g0142a0002c0002t0002g0124a0002c0002t0003g0343others(8): Show | 11 | 364 | 0.0302 | -5 | c.253 others(22): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 2/4 | chr6 | TogoVar | ||||||
C6orf132_chr6_42096119_42147620 | 42133824 | GGGGGC | G | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00280.hp2 others(139): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0047a0001c0049others(19): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(39): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0068others(135): Show | 142 | 364 | 0.3901 | -5 | c.146 others(22): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
C6orf132_chr6_42096119_42147620 | 42137816 | CGGGGG | C | intron_variant | MODIFIER | HG00738.hp1 HG01069.hp1 HG01071.hp1 others(28): Show |
a0001a0002a0003others(10): Show | a0001c0001a0002c0002a0003c0003others(14): Show | a0001c0001t0001a0002c0002t0002a0003c0003t0007others(18): Show | a0001c0001t0001g0158a0001c0001t0001g0165a0002c0002t0002g0169others(27): Show | 31 | 364 | 0.0852 | -5 | c.145 others(22): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
C6orf132_chr6_42096119_42147620 | 42137817 | GGGGGC | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(44): Show |
a0001a0002a0003others(9): Show | a0001c0001a0002c0002a0003c0003others(13): Show | a0001c0001t0001a0001c0001t0006a0001c0001t0016others(20): Show | a0001c0001t0001g0002a0001c0001t0001g0098a0001c0001t0001g0099others(42): Show | 47 | 364 | 0.1291 | -5 | c.145 others(22): Show |
C6orf132 | ENSG00000188112.10 | transcript | ENST00000341865.9 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
C6orf136_chr6_30642133_30658207 | 30652482 | CTGATT | C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp1 HG01168.hp2 others(8): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0015a0001c0001t0001g0026a0001c0001t0001g0042 | 11 | 409 | 0.0269 | -5 | c.130 others(22): Show |
C6orf136 | ENSG00000204564.12 | transcript | ENST00000651131.1 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
C6orf52_chr6_10666422_10699616 | 10676132 | AAAAAC | A | intron_variant | MODIFIER | HG00544.hp1 HG02155.hp2 HG02717.hp1 others(10): Show |
a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0017a0002c0003t0002g0043a0002c0003t0002g0044others(9): Show | 13 | 284 | 0.0458 | -5 | c.317 others(22): Show |
C6orf52 | ENSG00000137434.12 | transcript | ENST00000259983.8 | protein_coding | 4/4 | chr6 | TogoVar | ||||||
C6orf52_chr6_10666422_10699616 | 10679576 | AAAAAC | A | intron_variant | MODIFIER | HG01243.hp2 HG02451.hp2 HG02647.hp2 others(9): Show |
a0002 | a0002c0003 | a0002c0003t0002a0002c0003t0004 | a0002c0003t0002g0045a0002c0003t0002g0046a0002c0003t0002g0047others(7): Show | 12 | 284 | 0.0423 | -5 | c.316 others(22): Show |
C6orf52 | ENSG00000137434.12 | transcript | ENST00000259983.8 | protein_coding | 4/4 | chr6 | TogoVar | ||||||
C6orf52_chr6_10666422_10699616 | 10692721 | CATTTT | C | intron_variant | MODIFIER | HG03654.hp2 HG03688.hp1 NA20905.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0016 | 3 | 284 | 0.0106 | -5 | c.-12 others(22): Show |
C6orf52 | ENSG00000137434.12 | transcript | ENST00000259983.8 | protein_coding | 1/4 | chr6 | TogoVar | ||||||
C6orf52_chr6_10666422_10699616 | 10695875 | GTTTAT | G | upstream_gene_variant | MODIFIER | HG01243.hp2 HG02055.hp2 HG02451.hp2 others(12): Show |
a0002a0003 | a0002c0003a0003c0004 | a0002c0003t0002a0002c0003t0004a0003c0004t0002 | a0002c0003t0002g0045a0002c0003t0002g0046a0002c0003t0002g0047others(9): Show | 15 | 284 | 0.0528 | -5 | c.-13 others(16): Show |
C6orf52 | ENSG00000137434.12 | transcript | ENST00000259983.8 | protein_coding | 1260 | chr6 | TogoVar | ||||||
C6orf62_chr6_24699861_24724154 | 24705314 | AAAAAC | A | 3_prime_UTR_variant | MODIFIER | HG00544.hp2 HG01106.hp2 HG01255.hp1 others(29): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0010others(2): Show | a0001c0001t0006g0005a0001c0001t0006g0049a0001c0001t0006g0168others(12): Show | 32 | 414 | 0.0773 | -5 | c.*81 others(14): Show |
C6orf62 | ENSG00000112308.14 | transcript | ENST00000378119.9 | protein_coding | 5/5 | 818 | chr6 | TogoVar | |||||
C6orf89_chr6_36880952_36933964 | 36907275 | CTTTTG | C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(112): Show |
a0001a0003a0004 | a0001c0001a0001c0002a0001c0003others(2): Show | a0001c0001t0002a0001c0001t0004a0001c0001t0026others(20): Show | a0001c0001t0002g0269a0001c0001t0004g0206a0001c0001t0026g0221others(79): Show | 115 | 396 | 0.2904 | -5 | c.403 others(22): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 4/8 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
C6orf89_chr6_36880952_36933964 | 36926592 | AAAGGG | A | 3_prime_UTR_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00423.hp1 others(112): Show |
a0001a0003 | a0001c0002a0001c0003a0001c0004others(1): Show | a0001c0002t0003a0001c0002t0010a0001c0002t0013others(21): Show | a0001c0002t0003g0001a0001c0002t0003g0007a0001c0002t0003g0010others(83): Show | 115 | 396 | 0.2904 | -5 | c.*31 others(16): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 9/9 | 3158 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||
C6orf89_chr6_36880952_36933964 | 36931656 | CTTTTT | C | downstream_gene_variant | MODIFIER | HG02145.hp2 HG02647.hp1 HG02683.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0015a0001c0002t0005a0001c0003t0006others(1): Show | a0001c0001t0015g0182a0001c0001t0015g0183a0001c0001t0015g0184others(8): Show | 11 | 396 | 0.0278 | -5 | c.*82 others(16): Show |
C6orf89 | ENSG00000198663.17 | transcript | ENST00000480824.7 | protein_coding | 2693 | chr6 | TogoVar | ||||||
C7_chr5_40904497_40989643 | 40917307 | TCTTTA | T | intron_variant | MODIFIER | HG00597.hp1 HG02027.hp2 HG02056.hp2 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0009 | a0002c0002t0009g0295a0002c0002t0009g0296a0002c0002t0009g0297others(3): Show | 6 | 380 | 0.0158 | -5 | c.6+7 others(18): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 1/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40943830 | TTCTTA | T | intron_variant | MODIFIER | HG00099.hp1 HG00280.hp1 HG00408.hp2 others(76): Show |
a0001a0003a0007others(3): Show | a0001c0001a0001c0025a0003c0003others(4): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(15): Show | a0001c0001t0002g0010a0001c0001t0002g0217a0001c0001t0002g0221others(76): Show | 79 | 380 | 0.2079 | -5 | c.568 others(22): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 6/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40951233 | TGTTAA | T | intron_variant | MODIFIER | HG01109.hp1 HG01257.hp1 HG02897.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0006a0001c0001t0021a0002c0002t0003 | a0001c0001t0006g0054a0001c0001t0021g0029a0002c0002t0003g0172 | 3 | 380 | 0.0079 | -5 | c.109 others(24): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7_chr5_40904497_40989643 | 40968563 | ATATTT | A | intron_variant | MODIFIER | HG01433.hp1 HG03490.hp2 NA18953.hp1 others(2): Show |
a0003a0005a0008 | a0003c0003a0005c0005a0008c0008 | a0003c0003t0001a0005c0005t0001a0008c0008t0002 | a0003c0003t0001g0249a0003c0003t0001g0365a0005c0005t0001g0109others(2): Show | 5 | 380 | 0.0132 | -5 | c.188 others(24): Show |
C7 | ENSG00000112936.21 | transcript | ENST00000313164.10 | protein_coding | 14/17 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
C7orf33_chr7_148585766_148620860 | 148597730 | ATTTGT | A | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(72): Show |
a0001a0002a0003 | a0001c0001a0002c0002a0003c0008 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(4): Show | a0001c0001t0001g0010a0001c0001t0001g0012a0001c0001t0001g0013others(67): Show | 75 | 444 | 0.1689 | -5 | c.204 others(22): Show |
C7orf33 | ENSG00000170279.3 | transcript | ENST00000307003.3 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf50_chr7_992006_1143247 | 1059833 | CTGTAG | C | intron_variant | MODIFIER | HG01891.hp2 HG02976.hp2 NA19043.hp2 |
a0001a0006 | a0001c0001a0006c0006 | a0001c0001t0005a0001c0001t0016a0006c0006t0005 | a0001c0001t0005g0273a0001c0001t0016g0113a0006c0006t0005g0296 | 3 | 326 | 0.0092 | -5 | c.130 others(24): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1124561 | GGGGGT | G | intron_variant | MODIFIER | HG01243.hp1 HG01496.hp1 HG02083.hp1 others(42): Show |
a0001a0002a0006 | a0001c0001a0002c0002a0006c0006 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0002g0318a0001c0001t0003g0289a0001c0001t0003g0290others(42): Show | 45 | 326 | 0.1380 | -5 | c.129 others(22): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1126359 | CAAAAA | C | intron_variant | MODIFIER | HG01243.hp1 HG02109.hp1 HG02145.hp1 others(25): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0001c0001t0005others(7): Show | a0001c0001t0002g0318a0001c0001t0003g0289a0001c0001t0003g0290others(25): Show | 28 | 326 | 0.0859 | -5 | c.129 others(20): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 2/4 | chr7 | TogoVar | ||||||
C7orf50_chr7_992006_1143247 | 1131191 | TAAAAA | T | intron_variant | MODIFIER | HG00280.hp2 HG00323.hp2 HG00558.hp2 others(76): Show |
a0001a0002a0005others(3): Show | a0001c0001a0002c0002a0005c0007others(3): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(17): Show | a0001c0001t0001g0082a0001c0001t0002g0228a0001c0001t0002g0255others(76): Show | 79 | 326 | 0.2423 | -5 | c.-1- others(20): Show |
C7orf50 | ENSG00000146540.15 | transcript | ENST00000397098.8 | protein_coding | 1/4 | chr7 | TogoVar | ||||||
C7orf57_chr7_48030543_48066297 | 48037177 | GACAGC | G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(182): Show |
a0001a0002a0003others(3): Show | a0001c0002a0001c0004a0002c0001others(4): Show | a0001c0002t0001a0001c0002t0002a0001c0004t0001others(10): Show | a0001c0002t0001g0023a0001c0002t0001g0024a0001c0002t0001g0039others(167): Show | 185 | 404 | 0.4579 | -5 | c.55+ others(18): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 2/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf57_chr7_48030543_48066297 | 48051903 | CCTTTT | C | intron_variant | MODIFIER | HG00099.hp1 HG00408.hp1 HG00423.hp1 others(87): Show |
a0003a0004a0007 | a0003c0003a0004c0005a0007c0007 | a0003c0003t0001a0003c0003t0003a0003c0003t0010others(2): Show | a0003c0003t0001g0001a0003c0003t0001g0006a0003c0003t0001g0011others(77): Show | 90 | 404 | 0.2228 | -5 | c.606 others(20): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C7orf57_chr7_48030543_48066297 | 48055316 | TTTTTA | T | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp1 HG00280.hp1 others(103): Show |
a0001a0002a0005others(1): Show | a0001c0002a0002c0001a0005c0008others(1): Show | a0001c0002t0002a0001c0002t0004a0002c0001t0002others(5): Show | a0001c0002t0002g0047a0001c0002t0004g0067a0002c0001t0002g0031others(99): Show | 106 | 404 | 0.2624 | -5 | c.841 others(20): Show |
C7orf57 | ENSG00000164746.14 | transcript | ENST00000348904.4 | protein_coding | 8/8 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
C8orf33_chr8_145047467_145061030 | 145052253 | GCTCCC | G | upstream_gene_variant | MODIFIER | HG00408.hp2 HG01070.hp2 HG01071.hp2 others(16): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0006 | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0002g0001others(2): Show | 19 | 406 | 0.0468 | -5 | c.-23 others(14): Show |
C8orf33 | ENSG00000182307.14 | transcript | ENST00000331434.7 | protein_coding | 213 | chr8 | TogoVar | ||||||
C8orf33_chr8_145047467_145061030 | 145052280 | GCGCCC | G | upstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp1 HG00639.hp2 others(48): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0010others(1): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0002g0001others(3): Show | 51 | 406 | 0.1256 | -5 | c.-21 others(14): Show |
C8orf33 | ENSG00000182307.14 | transcript | ENST00000331434.7 | protein_coding | 186 | chr8 | TogoVar | ||||||
C8orf34_chr8_68325955_68824023 | 68331760 | TTTTTC | T | intron_variant | MODIFIER | HG00558.hp2 HG01081.hp1 HG02965.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0003a0001c0002t0002 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004others(3): Show | 6 | 128 | 0.0469 | -5 | c.327 others(20): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68346169 | AATATG | A | intron_variant | MODIFIER | HG02965.hp1 HG02970.hp2 HG03209.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0002a0001c0001t0001g0003a0001c0001t0001g0004 | 3 | 128 | 0.0234 | -5 | c.327 others(24): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68371438 | CATCTT | C | intron_variant | MODIFIER | HG01071.hp2 HG01109.hp1 HG01167.hp1 others(32): Show |
a0001a0002a0004 | a0001c0001a0001c0002a0002c0003others(4): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0094a0001c0001t0001g0097a0001c0001t0001g0098others(32): Show | 35 | 128 | 0.2734 | -5 | c.327 others(24): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68376184 | CATAAA | C | intron_variant | MODIFIER | HG01891.hp1 HG02647.hp1 |
a0001a0002 | a0001c0002a0002c0003 | a0001c0002t0001a0002c0003t0001 | a0001c0002t0001g0060a0002c0003t0001g0086 | 2 | 128 | 0.0156 | -5 | c.327 others(24): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
C8orf34_chr8_68325955_68824023 | 68378971 | TTGAAA | T | intron_variant | MODIFIER | HG02109.hp1 HG02717.hp2 HG02886.hp1 others(6): Show |
a0001a0002a0003 | a0001c0005a0002c0007a0003c0006others(1): Show | a0001c0005t0001a0001c0005t0002a0002c0007t0001others(4): Show | a0001c0005t0001g0043a0001c0005t0001g0044a0001c0005t0002g0042others(6): Show | 9 | 128 | 0.0703 | -5 | c.327 others(24): Show |
C8orf34 | ENSG00000165084.16 | transcript | ENST00000518698.6 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr8 | TogoVar |