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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
ADAMTS3_chr4_72275969_72574221 | 72549991 | AGAG | A | intron_variant | MODIFIER | HG01106.hp1 HG01255.hp1 HG02071.hp1 others(3): Show |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002a0002c0002t0005others(1): Show | a0002c0002t0001g0095a0002c0002t0001g0104a0002c0002t0001g0133others(3): Show | 6 | 182 | 0.0330 | -3 | c.98- others(18): Show |
ADAMTS3 | ENSG00000156140.11 | transcript | ENST00000286657.10 | protein_coding | 2/21 | chr4 | TogoVar | ||||||
ADAMTS5_chr21_26912922_26972088 | 26963641 | CAAA | C | intron_variant | MODIFIER | HG00609.hp2 HG00621.hp1 HG00738.hp2 others(19): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0006a0002c0002others(4): Show | a0001c0001t0039a0001c0006t0057a0002c0002t0011others(13): Show | a0001c0001t0039g0266a0001c0006t0057g0171a0002c0002t0011g0155others(18): Show | 22 | 398 | 0.0553 | -3 | c.110 others(22): Show |
ADAMTS5 | ENSG00000154736.6 | transcript | ENST00000284987.6 | protein_coding | 1/7 | chr21 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65148386 | CAAA | C | downstream_gene_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG01071.hp1 others(47): Show |
a0001 | a0001c0001a0001c0008a0001c0013 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0007a0001c0001t0001g0026a0001c0001t0001g0035others(47): Show | 50 | 204 | 0.2451 | -3 | c.*34 others(14): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 351 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65158586 | TGAG | T | intron_variant | MODIFIER | HG00323.hp1 HG00423.hp2 HG00741.hp1 others(105): Show |
a0001a0002a0005 | a0001c0001a0001c0002a0001c0008others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(15): Show | a0001c0001t0001g0006a0001c0001t0001g0007a0001c0001t0001g0010others(105): Show | 108 | 204 | 0.5294 | -3 | c.324 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 24/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65190101 | CATT | C | intron_variant | MODIFIER | HG00735.hp2 HG01081.hp1 HG01106.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0133a0001c0001t0001g0185 | 3 | 204 | 0.0147 | -3 | c.270 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 21/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65201322 | GTGT | G | intron_variant | MODIFIER | HG01074.hp2 HG01361.hp1 HG02809.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004a0001c0001t0008 | a0001c0001t0001g0007a0001c0001t0001g0137a0001c0001t0001g0153others(3): Show | 6 | 204 | 0.0294 | -3 | c.257 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 20/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65227376 | CTTG | C | intron_variant | MODIFIER | HG00735.hp2 HG00741.hp2 HG01071.hp2 others(36): Show |
a0001a0006 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(5): Show | a0001c0001t0001g0030a0001c0001t0001g0036a0001c0001t0001g0038others(36): Show | 39 | 204 | 0.1912 | -3 | c.193 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 15/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65253812 | CTTT | C | intron_variant | MODIFIER | HG00741.hp2 HG02280.hp2 HG02451.hp1 others(8): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(2): Show | a0001c0001t0001g0167a0001c0001t0002g0009a0001c0001t0002g0013others(8): Show | 11 | 204 | 0.0539 | -3 | c.183 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 14/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65256985 | CTTT | C | intron_variant | MODIFIER | HG01261.hp1 HG01261.hp2 HG03579.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0010a0001c0001t0001g0049a0001c0001t0001g0078others(2): Show | 5 | 204 | 0.0245 | -3 | c.183 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 14/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65302106 | AAAT | A | intron_variant | MODIFIER | HG00741.hp2 HG02723.hp1 HG02809.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(1): Show | a0001c0001t0001g0084a0001c0001t0001g0167a0001c0001t0002g0009others(3): Show | 6 | 204 | 0.0294 | -3 | c.122 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 9/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65313126 | GCAA | G | intron_variant | MODIFIER | HG01169.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0020a0001c0001t0001g0139 | 2 | 204 | 0.0098 | -3 | c.122 others(24): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 9/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65314440 | TAGA | T | intron_variant | MODIFIER | HG01261.hp1 HG02015.hp2 HG03669.hp1 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0028others(6): Show | 9 | 204 | 0.0441 | -3 | c.122 others(24): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 9/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65321708 | CTTT | C | intron_variant | MODIFIER | HG01167.hp2 HG02486.hp2 HG02717.hp2 others(6): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0005a0001c0001t0001g0025a0001c0001t0002g0024others(6): Show | 9 | 204 | 0.0441 | -3 | c.122 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 9/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65322561 | GTTT | G | intron_variant | MODIFIER | HG00323.hp1 HG00741.hp2 HG01081.hp2 others(40): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0005a0001c0001t0001g0019a0001c0001t0001g0025others(40): Show | 43 | 204 | 0.2108 | -3 | c.122 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 9/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65324505 | TATC | T | intron_variant | MODIFIER | HG01109.hp1 HG02886.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103a0001c0001t0002g0104a0001c0001t0002g0105others(1): Show | 4 | 204 | 0.0196 | -3 | c.122 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 9/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65327446 | AAAC | A | intron_variant | MODIFIER | HG01109.hp1 HG02886.hp1 HG03225.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0103a0001c0001t0002g0104a0001c0001t0002g0105others(1): Show | 4 | 204 | 0.0196 | -3 | c.122 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 9/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65333997 | TAAA | T | intron_variant | MODIFIER | HG01261.hp1 HG02015.hp2 HG02723.hp1 others(8): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0028others(8): Show | 11 | 204 | 0.0539 | -3 | c.111 others(18): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 8/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65343088 | CAGA | C | intron_variant | MODIFIER | HG01261.hp1 HG02015.hp2 HG02630.hp2 others(11): Show |
a0001a0002 | a0001c0001a0001c0002a0002c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0002others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0010a0001c0001t0001g0028others(11): Show | 14 | 204 | 0.0686 | -3 | c.107 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65364564 | CTTT | C | intron_variant | MODIFIER | HG01167.hp2 HG02055.hp2 HG02451.hp1 others(11): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(3): Show | a0001c0001t0001g0005a0001c0001t0001g0025a0001c0001t0001g0119others(11): Show | 14 | 204 | 0.0686 | -3 | c.107 others(24): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65392245 | ATAG | A | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00735.hp1 others(44): Show |
a0001 | a0001c0001a0001c0002a0001c0008others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(8): Show | a0001c0001t0001g0005a0001c0001t0001g0007a0001c0001t0001g0025others(44): Show | 47 | 204 | 0.2304 | -3 | c.107 others(24): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65398805 | AAAG | A | intron_variant | MODIFIER | HG00323.hp1 HG01167.hp1 HG01169.hp1 others(6): Show |
a0001 | a0001c0001a0001c0012 | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0035a0001c0001t0001g0139others(6): Show | 9 | 204 | 0.0441 | -3 | c.107 others(24): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65416748 | TAAA | T | intron_variant | MODIFIER | HG02257.hp2 HG03209.hp1 HG03471.hp2 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0091a0001c0001t0001g0093a0001c0001t0001g0119others(3): Show | 6 | 204 | 0.0294 | -3 | c.107 others(24): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65443622 | CAAA | C | intron_variant | MODIFIER | HG00735.hp2 HG01071.hp2 HG01081.hp1 others(34): Show |
a0001a0002a0007 | a0001c0001a0001c0002a0002c0004others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(6): Show | a0001c0001t0001g0006a0001c0001t0001g0018a0001c0001t0001g0028others(34): Show | 37 | 204 | 0.1814 | -3 | c.107 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65447820 | TCTA | T | intron_variant | MODIFIER | HG01167.hp2 NA18906.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0025a0001c0001t0002g0124 | 2 | 204 | 0.0098 | -3 | c.107 others(22): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 7/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65470731 | AATT | A | intron_variant | MODIFIER | HG00741.hp2 HG01081.hp1 HG01167.hp2 others(55): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0002c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(9): Show | a0001c0001t0001g0005a0001c0001t0001g0006a0001c0001t0001g0007others(55): Show | 58 | 204 | 0.2843 | -3 | c.462 others(16): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 3/24 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65482522 | AAAG | A | upstream_gene_variant | MODIFIER | HG01261.hp1 HG01978.hp2 HG02055.hp1 others(11): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0026a0001c0001t0001g0027a0001c0001t0001g0029others(11): Show | 14 | 204 | 0.0686 | -3 | c.-14 others(14): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 603 | chr5 | TogoVar | ||||||
ADAMTS6_chr5_65143738_65486920 | 65486122 | CTTT | C | upstream_gene_variant | MODIFIER | HG00323.hp2 HG00423.hp2 HG00621.hp2 others(28): Show |
a0001a0007 | a0001c0001a0001c0008a0001c0012others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(5): Show | a0001c0001t0001g0067a0001c0001t0001g0088a0001c0001t0001g0129others(28): Show | 31 | 204 | 0.1520 | -3 | c.-50 others(14): Show |
ADAMTS6 | ENSG00000049192.15 | transcript | ENST00000381055.8 | protein_coding | 4203 | chr5 | TogoVar | ||||||
ADAMTS7_chr15_78754206_78816464 | 78754318 | TCTC | T | downstream_gene_variant | MODIFIER | HG02886.hp2 HG02965.hp1 HG03139.hp2 |
a0021 | a0021c0023 | a0021c0023t0001 | a0021c0023t0001g0004a0021c0023t0001g0043 | 3 | 380 | 0.0079 | -3 | c.*51 others(14): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 4887 | chr15 | TogoVar | ||||||
ADAMTS7_chr15_78754206_78816464 | 78766598 | GCGC | G | conservative_inframe_deletion | MODERATE | HG01109.hp1 HG01167.hp2 HG01169.hp1 others(43): Show |
a0004a0009a0019others(3): Show | a0004c0004a0004c0018a0004c0050others(6): Show | a0004c0004t0001a0004c0004t0003a0004c0004t0004others(8): Show | a0004c0004t0001g0317a0004c0004t0001g0318a0004c0004t0001g0320others(40): Show | 46 | 380 | 0.1211 | -3 | c.331 others(12): Show |
p.Ala others(7): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 19/24 | 3556/5520 | 3310/5061 | 1104/1686 | chr15 | TogoVar | ||
ADAMTS7_chr15_78754206_78816464 | 78785546 | CAAA | C | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(65): Show |
a0005a0006a0008others(15): Show | a0005c0005a0005c0047a0005c0108others(18): Show | a0005c0005t0002a0005c0005t0011a0005c0047t0002others(19): Show | a0005c0005t0002g0007a0005c0005t0002g0009a0005c0005t0002g0116others(59): Show | 68 | 380 | 0.1790 | -3 | c.132 others(22): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 8/23 | chr15 | TogoVar | ||||||
ADAMTS7_chr15_78754206_78816464 | 78787965 | GCTC | G | intron_variant | MODIFIER | HG03130.hp2 NA18944.hp2 NA18960.hp1 others(6): Show |
a0007a0016a0033others(1): Show | a0007c0052a0016c0017a0016c0079others(2): Show | a0007c0052t0001a0016c0017t0001a0016c0079t0001others(2): Show | a0007c0052t0001g0200a0016c0017t0001g0203a0016c0017t0001g0204others(6): Show | 9 | 380 | 0.0237 | -3 | c.132 others(20): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 8/23 | chr15 | TogoVar | ||||||
ADAMTS7_chr15_78754206_78816464 | 78805445 | GGGT | G | intron_variant | MODIFIER | HG02257.hp2 HG02559.hp1 HG02965.hp2 others(1): Show |
a0034a0059a0073 | a0034c0035a0059c0074a0073c0076 | a0034c0035t0007a0059c0074t0012a0073c0076t0007 | a0034c0035t0007g0356a0034c0035t0007g0357a0059c0074t0012g0354others(1): Show | 4 | 380 | 0.0105 | -3 | c.101 others(20): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 1/23 | chr15 | TogoVar | ||||||
ADAMTS7_chr15_78754206_78816464 | 78806127 | CAAA | C | intron_variant | MODIFIER | HG02622.hp1 HG02723.hp2 HG03130.hp2 others(10): Show |
a0007a0011a0016others(6): Show | a0007c0010a0007c0052a0011c0011others(7): Show | a0007c0010t0001a0007c0052t0001a0011c0011t0001others(7): Show | a0007c0010t0001g0040a0007c0010t0001g0205a0007c0010t0001g0209others(10): Show | 13 | 380 | 0.0342 | -3 | c.100 others(20): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 1/23 | chr15 | TogoVar | ||||||
ADAMTS7_chr15_78754206_78816464 | 78807696 | TAAC | T | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00323.hp2 others(41): Show |
a0005a0006a0008others(6): Show | a0005c0005a0005c0047a0005c0108others(8): Show | a0005c0005t0002a0005c0005t0011a0005c0047t0002others(9): Show | a0005c0005t0002g0007a0005c0005t0002g0009a0005c0005t0002g0116others(39): Show | 44 | 380 | 0.1158 | -3 | c.100 others(20): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 1/23 | chr15 | TogoVar | ||||||
ADAMTS7_chr15_78754206_78816464 | 78815264 | ATTG | A | upstream_gene_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00280.hp2 others(177): Show |
a0001a0002a0003others(44): Show | a0001c0002a0001c0006a0001c0014others(69): Show | a0001c0002t0001a0001c0002t0008a0001c0006t0001others(74): Show | a0001c0002t0001g0014a0001c0002t0001g0015a0001c0002t0001g0256others(170): Show | 180 | 380 | 0.4737 | -3 | c.-40 others(14): Show |
ADAMTS7 | ENSG00000136378.15 | transcript | ENST00000388820.5 | protein_coding | 3801 | chr15 | TogoVar | ||||||
ADAMTS8_chr11_130399923_130433609 | 130406637 | GTAT | G | intron_variant | MODIFIER | HG00621.hp1 HG00673.hp1 HG00673.hp2 others(67): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0030a0002c0004others(8): Show | a0001c0001t0004a0001c0001t0005a0001c0030t0005others(11): Show | a0001c0001t0004g0153a0001c0001t0005g0020a0001c0001t0005g0021others(51): Show | 70 | 424 | 0.1651 | -3 | c.210 others(20): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 8/8 | chr11 | TogoVar | ||||||
ADAMTS8_chr11_130399923_130433609 | 130415603 | CTTT | C | intron_variant | MODIFIER | HG01243.hp2 HG01261.hp1 HG02055.hp2 others(21): Show |
a0006a0009a0012others(3): Show | a0006c0007a0009c0010a0012c0012others(3): Show | a0006c0007t0002a0006c0007t0004a0006c0007t0008others(6): Show | a0006c0007t0002g0197a0006c0007t0002g0221a0006c0007t0002g0223others(20): Show | 24 | 424 | 0.0566 | -3 | c.126 others(20): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 4/8 | chr11 | TogoVar | ||||||
ADAMTS8_chr11_130399923_130433609 | 130417248 | AATT | A | intron_variant | MODIFIER | HG00741.hp1 HG01070.hp2 HG02145.hp2 others(13): Show |
a0002a0003a0004others(4): Show | a0002c0004a0003c0002a0004c0005others(5): Show | a0002c0004t0002a0003c0002t0002a0003c0002t0007others(6): Show | a0002c0004t0002g0192a0003c0002t0002g0041a0003c0002t0002g0193others(11): Show | 16 | 424 | 0.0377 | -3 | c.961 others(18): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 2/8 | chr11 | TogoVar | ||||||
ADAMTS8_chr11_130399923_130433609 | 130421787 | GGAC | G | intron_variant | MODIFIER | HG01099.hp2 HG02280.hp2 HG02615.hp1 others(7): Show |
a0003a0027 | a0003c0002a0027c0041 | a0003c0002t0007a0003c0002t0008a0003c0002t0016others(1): Show | a0003c0002t0007g0045a0003c0002t0007g0046a0003c0002t0007g0306others(5): Show | 10 | 424 | 0.0236 | -3 | c.721 others(20): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 1/8 | chr11 | TogoVar | ||||||
ADAMTS8_chr11_130399923_130433609 | 130427451 | CTTT | C | intron_variant | MODIFIER | HG01167.hp2 HG02109.hp2 HG02965.hp2 others(5): Show |
a0001a0002a0004others(2): Show | a0001c0001a0002c0038a0002c0039others(3): Show | a0001c0001t0001a0002c0038t0003a0002c0039t0002others(3): Show | a0001c0001t0001g0137a0001c0001t0001g0138a0002c0038t0003g0186others(4): Show | 8 | 424 | 0.0189 | -3 | c.720 others(18): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 1/8 | chr11 | TogoVar | ||||||
ADAMTS8_chr11_130399923_130433609 | 130428222 | GGCA | G | disruptive_inframe_deletion | MODERATE | HG00099.hp2 HG00140.hp2 HG00280.hp1 others(194): Show |
a0001a0004a0007others(8): Show | a0001c0001a0001c0025a0001c0027others(14): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(23): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0004others(122): Show | 197 | 424 | 0.4646 | -3 | c.62_ others(8): Show |
p.Leu others(5): Show |
ADAMTS8 | ENSG00000134917.10 | transcript | ENST00000257359.7 | protein_coding | 1/9 | 387/3628 | 62/2670 | 21/889 | chr11 | TogoVar | ||
ADAMTS9_chr3_64510654_64693000 | 64526044 | ATCT | A | intron_variant | MODIFIER | HG01934.hp1 HG02257.hp1 HG02280.hp1 others(2): Show |
a0001 | a0001c0009 | a0001c0009t0005 | a0001c0009t0005g0069a0001c0009t0005g0070a0001c0009t0005g0071others(2): Show | 5 | 286 | 0.0175 | -3 | c.571 others(22): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 38/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64526081 | AAAT | A | intron_variant | MODIFIER | HG00140.hp1 HG00438.hp1 HG00438.hp2 others(60): Show |
a0001a0003a0005others(9): Show | a0001c0001a0001c0004a0001c0006others(14): Show | a0001c0001t0002a0001c0001t0020a0001c0001t0021others(17): Show | a0001c0001t0002g0065a0001c0001t0002g0076a0001c0001t0002g0083others(60): Show | 63 | 286 | 0.2203 | -3 | c.571 others(22): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 38/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64526167 | GAGA | G | intron_variant | MODIFIER | HG00099.hp1 HG00140.hp2 HG00544.hp1 others(38): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0014a0002c0002others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(7): Show | a0001c0001t0001g0087a0001c0001t0001g0090a0001c0001t0001g0093others(38): Show | 41 | 286 | 0.1434 | -3 | c.571 others(22): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 38/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64530526 | TAAA | T | intron_variant | MODIFIER | HG00738.hp2 HG01243.hp2 HG01978.hp1 others(12): Show |
a0002a0004a0007others(3): Show | a0002c0002a0004c0005a0007c0011others(3): Show | a0002c0002t0001a0002c0002t0008a0002c0002t0013others(5): Show | a0002c0002t0001g0225a0002c0002t0001g0227a0002c0002t0001g0229others(12): Show | 15 | 286 | 0.0525 | -3 | c.571 others(22): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 38/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64547353 | ACAG | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(264): Show |
a0001a0002a0003others(29): Show | a0001c0001a0001c0004a0001c0006others(49): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(75): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0018others(262): Show | 267 | 286 | 0.9336 | -3 | c.487 others(20): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 31/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64570693 | CTCA | C | intron_variant | MODIFIER | HG02109.hp1 HG02129.hp2 HG02572.hp1 others(10): Show |
a0001a0002a0009others(1): Show | a0001c0001a0001c0004a0001c0006others(6): Show | a0001c0001t0002a0001c0004t0002a0001c0006t0010others(7): Show | a0001c0001t0002g0224a0001c0001t0002g0273a0001c0004t0002g0277others(10): Show | 13 | 286 | 0.0455 | -3 | c.435 others(22): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 28/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64570695 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp2 HG00733.hp2 others(24): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0004a0002c0002others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0014others(7): Show | a0001c0001t0001g0002a0001c0001t0001g0095a0001c0001t0001g0097others(23): Show | 27 | 286 | 0.0944 | -3 | c.435 others(22): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 28/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64584772 | CTAT | C | intron_variant | MODIFIER | HG02896.hp1 HG02897.hp1 HG03579.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0009t0005 | a0001c0001t0002g0065a0001c0009t0005g0069a0001c0009t0005g0070 | 3 | 286 | 0.0105 | -3 | c.435 others(22): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 28/39 | chr3 | TogoVar | ||||||
ADAMTS9_chr3_64510654_64693000 | 64593957 | TATG | T | intron_variant | MODIFIER | HG02615.hp2 HG02717.hp2 HG03209.hp1 |
a0001a0022 | a0001c0001a0001c0037a0022c0036 | a0001c0001t0014a0001c0037t0008a0022c0036t0002 | a0001c0001t0014g0012a0001c0037t0008g0006a0022c0036t0002g0214 | 3 | 286 | 0.0105 | -3 | c.435 others(20): Show |
ADAMTS9 | ENSG00000163638.13 | transcript | ENST00000498707.5 | protein_coding | 28/39 | chr3 | TogoVar |