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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL13A1_chr10_69796906_69964144 | 69889710 | CAGCTTAC others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00544.hp1 others(20): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0006others(5): Show | a0001c0001t0001a0001c0002t0001a0001c0002t0002others(9): Show | a0001c0001t0001g0056a0001c0001t0001g0062a0001c0001t0001g0064others(20): Show | 23 | 324 | 0.0710 | -8 | c.603 others(23): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 10/40 | chr10 | TogoVar | ||||||
COL13A1_chr10_69796906_69964144 | 69936120 | GGAAGGAA others(1): Show |
G | intron_variant | MODIFIER | HG02145.hp1 HG02630.hp1 HG02896.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001a0001c0002t0009 | a0001c0001t0002g0023a0001c0002t0001g0223a0001c0002t0001g0224others(1): Show | 4 | 324 | 0.0124 | -8 | c.177 others(25): Show |
COL13A1 | ENSG00000197467.17 | transcript | ENST00000645393.2 | protein_coding | 32/40 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120128228 | CGTGTGTG others(1): Show |
C | intron_variant | MODIFIER | HG01943.hp1 HG01978.hp1 HG02056.hp2 others(27): Show |
a0001a0002a0003others(2): Show | a0001c0001a0001c0003a0001c0007others(8): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0086a0001c0001t0001g0142a0001c0001t0001g0144others(27): Show | 30 | 218 | 0.1376 | -8 | c.-38 others(25): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 1/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120166875 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG00544.hp2 HG01884.hp1 HG01952.hp2 others(8): Show |
a0001a0002a0004 | a0001c0001a0001c0003a0001c0024others(2): Show | a0001c0001t0001a0001c0003t0002a0001c0003t0003others(4): Show | a0001c0001t0001g0063a0001c0003t0002g0092a0001c0003t0002g0195others(8): Show | 11 | 218 | 0.0505 | -8 | c.350 others(25): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120173648 | CTCTATCT others(1): Show |
C | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG01109.hp2 others(9): Show |
a0001a0003a0010 | a0001c0001a0001c0003a0001c0031others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0003t0001others(4): Show | a0001c0001t0001g0063a0001c0001t0001g0165a0001c0001t0001g0166others(9): Show | 12 | 218 | 0.0551 | -8 | c.436 others(25): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 5/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120184224 | GATTTATT others(1): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00438.hp1 others(51): Show |
a0001a0002a0004others(5): Show | a0001c0001a0001c0003a0001c0007others(11): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0034a0001c0001t0001g0036others(51): Show | 54 | 218 | 0.2477 | -8 | c.437 others(27): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 5/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120200715 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG01070.hp1 HG01071.hp2 HG02451.hp1 others(13): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0002c0032others(2): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(5): Show | a0001c0001t0001g0165a0001c0001t0001g0166a0001c0001t0002g0065others(13): Show | 16 | 218 | 0.0734 | -8 | c.877 others(25): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 8/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL14A1_chr8_120120102_120378573 | 120334585 | AACACACA others(1): Show |
A | intron_variant | MODIFIER | HG01109.hp2 HG01192.hp2 HG02572.hp2 others(5): Show |
a0001a0003a0006 | a0001c0001a0001c0005a0003c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0005others(4): Show | a0001c0001t0001g0113a0001c0001t0002g0032a0001c0001t0002g0072others(5): Show | 8 | 218 | 0.0367 | -8 | c.478 others(27): Show |
COL14A1 | ENSG00000187955.13 | transcript | ENST00000297848.8 | protein_coding | 42/47 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 98989023 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG02257.hp1 HG02647.hp2 HG03130.hp1 others(2): Show |
a0010a0019a0028 | a0010c0012a0019c0024a0028c0034 | a0010c0012t0002a0019c0024t0006a0028c0034t0001 | a0010c0012t0002g0011a0019c0024t0006g0122a0019c0024t0006g0166others(2): Show | 5 | 310 | 0.0161 | -8 | c.724 others(23): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 4/41 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
COL15A1_chr9_98938907_99075787 | 99073049 | GTGTGTGT others(1): Show |
G | downstream_gene_variant | MODIFIER | HG02717.hp1 NA19030.hp2 NA20129.hp1 |
a0002a0036a0037 | a0002c0003a0036c0045a0037c0044 | a0002c0003t0003a0036c0045t0003a0037c0044t0003 | a0002c0003t0003g0100a0036c0045t0003g0212a0037c0044t0003g0138 | 3 | 310 | 0.0097 | -8 | c.*31 others(19): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2263 | chr9 | TogoVar | ||||||
COL15A1_chr9_98938907_99075787 | 99073057 | ATGTGTGT others(1): Show |
A | downstream_gene_variant | MODIFIER | HG02109.hp2 HG02258.hp2 HG03209.hp2 |
a0010a0030 | a0010c0012a0030c0030 | a0010c0012t0005a0030c0030t0005 | a0010c0012t0005g0215a0030c0030t0005g0127a0030c0030t0005g0128 | 3 | 310 | 0.0097 | -8 | c.*31 others(19): Show |
COL15A1 | ENSG00000204291.12 | transcript | ENST00000375001.8 | protein_coding | 2271 | chr9 | TogoVar | ||||||
COL17A1_chr10_104026286_104090880 | 104038231 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG01928.hp1 HG02451.hp2 HG02572.hp1 others(7): Show |
a0001a0002a0004others(3): Show | a0001c0006a0001c0053a0002c0002others(4): Show | a0001c0006t0002a0001c0006t0003a0001c0053t0002others(5): Show | a0001c0006t0002g0071a0001c0006t0002g0111a0001c0006t0003g0044others(7): Show | 10 | 336 | 0.0298 | -8 | c.307 others(25): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 45/55 | chr10 | TogoVar | ||||||
COL17A1_chr10_104026286_104090880 | 104039788 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG02145.hp2 HG03516.hp1 others(2): Show |
a0006a0010a0030 | a0006c0008a0006c0042a0010c0021others(1): Show | a0006c0008t0002a0006c0042t0002a0010c0021t0001others(1): Show | a0006c0008t0002g0258a0006c0042t0002g0294a0010c0021t0001g0251others(2): Show | 5 | 336 | 0.0149 | -8 | c.278 others(25): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 41/55 | chr10 | TogoVar | ||||||
COL17A1_chr10_104026286_104090880 | 104040594 | ATGGATAG others(1): Show |
A | intron_variant | MODIFIER | HG01074.hp2 HG01891.hp2 HG02523.hp2 others(6): Show |
a0001a0003a0004others(1): Show | a0001c0001a0001c0014a0001c0052others(3): Show | a0001c0001t0001a0001c0014t0001a0001c0052t0001others(3): Show | a0001c0001t0001g0034a0001c0001t0001g0045a0001c0001t0001g0129others(6): Show | 9 | 336 | 0.0268 | -8 | c.270 others(25): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 39/55 | chr10 | TogoVar | ||||||
COL17A1_chr10_104026286_104090880 | 104086944 | TCCTGGGA others(1): Show |
T | upstream_gene_variant | MODIFIER | HG01175.hp2 HG01243.hp2 HG02109.hp1 others(12): Show |
a0002a0006a0013others(1): Show | a0002c0002a0002c0010a0002c0023others(5): Show | a0002c0002t0002a0002c0010t0001a0002c0023t0004others(7): Show | a0002c0002t0002g0291a0002c0002t0002g0292a0002c0002t0002g0293others(12): Show | 15 | 336 | 0.0446 | -8 | c.-12 others(19): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 1065 | chr10 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45437250 | ACACACAC others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG00733.hp1 HG01167.hp1 others(8): Show |
a0001a0002a0004others(4): Show | a0001c0017a0001c0054a0002c0012others(8): Show | a0001c0017t0002a0001c0054t0002a0002c0012t0004others(8): Show | a0001c0017t0002g0179a0001c0054t0002g0201a0002c0012t0004g0058others(8): Show | 11 | 292 | 0.0377 | -8 | c.107 others(27): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45437852 | ACTCACAC others(1): Show |
A | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG03130.hp1 others(1): Show |
a0001a0008 | a0001c0069a0008c0018 | a0001c0069t0005a0008c0018t0005 | a0001c0069t0005g0038a0008c0018t0005g0067a0008c0018t0005g0130others(1): Show | 4 | 292 | 0.0137 | -8 | c.107 others(27): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45437924 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG02559.hp1 HG02630.hp1 HG02895.hp1 others(1): Show |
a0004a0013a0014 | a0004c0100a0013c0102a0014c0039 | a0004c0100t0001a0013c0102t0004a0014c0039t0009 | a0004c0100t0001g0039a0013c0102t0004g0196a0014c0039t0009g0197others(1): Show | 4 | 292 | 0.0137 | -8 | c.107 others(27): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45490078 | CCCCCGAC others(1): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG00438.hp1 HG00597.hp2 others(35): Show |
a0001a0006a0013others(4): Show | a0001c0003a0001c0007a0001c0011others(11): Show | a0001c0003t0001a0001c0003t0003a0001c0007t0002others(13): Show | a0001c0003t0001g0048a0001c0003t0001g0081a0001c0003t0001g0085others(35): Show | 38 | 292 | 0.1301 | -8 | c.196 others(25): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 19/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45490570 | TCTCAGGT others(1): Show |
T | intron_variant | MODIFIER | HG01258.hp2 HG01346.hp2 HG02257.hp2 |
a0001a0013 | a0001c0003a0013c0051 | a0001c0003t0001a0013c0051t0001 | a0001c0003t0001g0110a0001c0003t0001g0287a0013c0051t0001g0195 | 3 | 292 | 0.0103 | -8 | c.203 others(25): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 20/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL18A1_chr21_45400165_45518720 | 45508241 | GTGAGTGG others(1): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00735.hp1 HG00738.hp2 others(3): Show |
a0001a0002 | a0001c0002a0001c0090a0002c0084 | a0001c0002t0002a0001c0090t0002a0002c0084t0002 | a0001c0002t0002g0107a0001c0002t0002g0114a0001c0002t0002g0117others(3): Show | 6 | 292 | 0.0206 | -8 | c.324 others(25): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 38/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69876407 | AATATCAA others(1): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG04199.hp1 others(6): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0001c0007others(3): Show | a0001c0001t0001a0001c0005t0003a0001c0007t0005others(4): Show | a0001c0001t0001g0099a0001c0001t0001g0125a0001c0005t0003g0102others(6): Show | 9 | 182 | 0.0495 | -8 | c.-32 others(25): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 1/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69896543 | CAAAAAAA others(1): Show |
C | intron_variant | MODIFIER | HG00642.hp2 HG00741.hp2 HG01099.hp1 others(24): Show |
a0002a0003a0010 | a0002c0003a0002c0004a0002c0006others(4): Show | a0002c0003t0002a0002c0003t0012a0002c0003t0021others(12): Show | a0002c0003t0002g0020a0002c0003t0002g0026a0002c0003t0002g0032others(24): Show | 27 | 182 | 0.1484 | -8 | c.92- others(23): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 2/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69950674 | CCACACAC others(1): Show |
C | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp2 HG00741.hp2 others(32): Show |
a0002a0003a0005others(2): Show | a0002c0003a0002c0004a0002c0006others(6): Show | a0002c0003t0002a0002c0003t0012a0002c0003t0018others(18): Show | a0002c0003t0002g0018a0002c0003t0002g0026a0002c0003t0002g0040others(32): Show | 35 | 182 | 0.1923 | -8 | c.937 others(25): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 9/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69955522 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG02717.hp2 NA19010.hp2 |
a0002 | a0002c0009a0002c0011 | a0002c0009t0004a0002c0011t0005 | a0002c0009t0004g0129a0002c0011t0005g0142 | 2 | 182 | 0.0110 | -8 | c.937 others(25): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 9/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69982973 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00738.hp1 NA18948.hp1 others(3): Show |
a0001a0002a0006 | a0001c0001a0001c0005a0002c0003others(3): Show | a0001c0001t0001a0001c0005t0010a0002c0003t0002others(3): Show | a0001c0001t0001g0178a0001c0005t0010g0179a0002c0003t0002g0175others(3): Show | 6 | 182 | 0.0330 | -8 | c.102 others(29): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 69986221 | TTATATAT others(1): Show |
T | intron_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG00741.hp2 others(32): Show |
a0002a0007 | a0002c0003a0002c0004a0002c0006others(3): Show | a0002c0003t0002a0002c0003t0008a0002c0003t0012others(15): Show | a0002c0003t0002g0018a0002c0003t0002g0020a0002c0003t0002g0026others(32): Show | 35 | 182 | 0.1923 | -8 | c.102 others(29): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 11/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70024608 | TGTGTGTG others(1): Show |
T | intron_variant | MODIFIER | HG01256.hp2 HG01257.hp2 HG02257.hp1 others(2): Show |
a0002 | a0002c0003a0002c0004a0002c0006 | a0002c0003t0002a0002c0003t0034a0002c0004t0002others(2): Show | a0002c0003t0002g0040a0002c0003t0034g0041a0002c0004t0002g0033others(2): Show | 5 | 182 | 0.0275 | -8 | c.108 others(25): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 12/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70072959 | TTTTATTT others(1): Show |
T | intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG00642.hp2 others(21): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(5): Show | a0001c0001t0001a0001c0002t0002a0001c0005t0007others(11): Show | a0001c0001t0001g0016a0001c0001t0001g0053a0001c0001t0001g0118others(21): Show | 24 | 182 | 0.1319 | -8 | c.122 others(27): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 15/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70109541 | AGTGTGTG others(1): Show |
A | intron_variant | MODIFIER | HG01175.hp1 HG01884.hp2 HG02258.hp1 others(7): Show |
a0001a0002 | a0001c0001a0001c0007a0002c0003others(2): Show | a0001c0001t0001a0001c0007t0005a0002c0003t0031others(3): Show | a0001c0001t0001g0143a0001c0001t0001g0180a0001c0007t0005g0025others(7): Show | 10 | 182 | 0.0550 | -8 | c.127 others(27): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 16/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL19A1_chr6_69861556_70217468 | 70154153 | CTGTGTCC others(1): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG01884.hp2 HG02258.hp1 others(2): Show |
a0001a0002 | a0001c0005a0002c0003a0002c0006 | a0001c0005t0003a0001c0005t0032a0002c0003t0031others(1): Show | a0001c0005t0003g0003a0001c0005t0032g0165a0002c0003t0031g0075others(2): Show | 5 | 182 | 0.0275 | -8 | c.208 others(27): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 31/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
COL1A2_chr7_94389895_94436227 | 94396314 | TTGTGTGT others(1): Show |
T | intron_variant | MODIFIER | HG01069.hp1 HG01070.hp1 HG01169.hp2 |
a0001 | a0001c0002a0001c0006 | a0001c0002t0001a0001c0006t0004 | a0001c0002t0001g0072a0001c0006t0004g0033 | 3 | 438 | 0.0069 | -8 | c.70+ others(23): Show |
COL1A2 | ENSG00000164692.19 | transcript | ENST00000297268.11 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
COL21A1_chr6_56051590_56252580 | 56053862 | AGTGTGTG others(1): Show |
A | downstream_gene_variant | MODIFIER | HG02132.hp2 HG02622.hp2 HG02965.hp2 |
a0002a0007 | a0002c0003a0007c0010 | a0002c0003t0001a0007c0010t0003 | a0002c0003t0001g0109a0007c0010t0003g0069a0007c0010t0003g0070 | 3 | 264 | 0.0114 | -8 | c.*37 others(19): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 2727 | chr6 | TogoVar | ||||||
COL21A1_chr6_56051590_56252580 | 56168813 | TTCACCCC others(1): Show |
T | intron_variant | MODIFIER | HG01358.hp1 HG03139.hp2 HG04115.hp2 |
a0005 | a0005c0009 | a0005c0009t0004 | a0005c0009t0004g0055a0005c0009t0004g0056a0005c0009t0004g0072 | 3 | 264 | 0.0114 | -8 | c.102 others(25): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 5/29 | chr6 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138620941 | GCATCCAT others(1): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG01891.hp2 HG02145.hp1 others(21): Show |
a0001a0002a0003others(5): Show | a0001c0001a0001c0002a0001c0006others(14): Show | a0001c0001t0001a0001c0002t0002a0001c0002t0007others(18): Show | a0001c0001t0001g0083a0001c0002t0002g0029a0001c0002t0007g0156others(21): Show | 24 | 158 | 0.1519 | -8 | c.377 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 52/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138620988 | TCCATCCA others(1): Show |
T | intron_variant | MODIFIER | HG00735.hp1 HG01070.hp2 |
a0001a0004 | a0001c0053a0004c0032 | a0001c0053t0001a0004c0032t0001 | a0001c0053t0001g0118a0004c0032t0001g0115 | 2 | 158 | 0.0127 | -8 | c.377 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 52/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138623262 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00597.hp1 HG01070.hp1 others(10): Show |
a0001a0002a0013others(1): Show | a0001c0001a0001c0008a0001c0018others(7): Show | a0001c0001t0001a0001c0008t0002a0001c0018t0001others(10): Show | a0001c0001t0001g0121a0001c0008t0002g0096a0001c0018t0001g0075others(10): Show | 13 | 158 | 0.0823 | -8 | c.377 others(25): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 52/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138650670 | TTAGATAG others(1): Show |
T | intron_variant | MODIFIER | HG01884.hp2 HG01943.hp2 HG02145.hp2 others(7): Show |
a0001a0002a0003 | a0001c0006a0001c0008a0001c0012others(6): Show | a0001c0006t0001a0001c0008t0002a0001c0012t0001others(6): Show | a0001c0006t0001g0060a0001c0008t0002g0093a0001c0008t0002g0096others(7): Show | 10 | 158 | 0.0633 | -8 | c.333 others(25): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 45/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138660803 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG01433.hp1 HG01891.hp2 HG02559.hp2 others(20): Show |
a0001a0002a0003others(4): Show | a0001c0002a0001c0006a0001c0008others(14): Show | a0001c0002t0001a0001c0006t0001a0001c0008t0002others(18): Show | a0001c0002t0001g0100a0001c0006t0001g0062a0001c0008t0002g0093others(20): Show | 23 | 158 | 0.1456 | -8 | c.324 others(25): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 43/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138664194 | TGCGCGCG others(1): Show |
T | intron_variant | MODIFIER | HG02622.hp2 HG03540.hp2 NA20129.hp2 |
a0001a0002a0003 | a0001c0017a0002c0025a0003c0033 | a0001c0017t0005a0002c0025t0004a0003c0033t0002 | a0001c0017t0005g0149a0002c0025t0004g0103a0003c0033t0002g0015 | 3 | 158 | 0.0190 | -8 | c.315 others(25): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138664207 | GCGCACAC others(1): Show |
G | intron_variant | MODIFIER | HG00642.hp2 HG01891.hp1 HG02145.hp1 others(5): Show |
a0001a0002a0004 | a0001c0002a0001c0016a0001c0024others(5): Show | a0001c0002t0002a0001c0016t0001a0001c0024t0004others(5): Show | a0001c0002t0002g0029a0001c0016t0001g0097a0001c0024t0004g0136others(5): Show | 8 | 158 | 0.0506 | -8 | c.315 others(25): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138664209 | GCACACAC others(1): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG02451.hp2 HG02809.hp1 |
a0001a0002 | a0001c0008a0002c0022a0002c0052 | a0001c0008t0001a0002c0022t0001a0002c0052t0002 | a0001c0008t0001g0041a0002c0022t0001g0040a0002c0052t0002g0058 | 3 | 158 | 0.0190 | -8 | c.315 others(25): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138676413 | AAAAGAAA others(1): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG02280.hp2 HG02523.hp2 others(6): Show |
a0001a0002a0003 | a0001c0008a0001c0010a0001c0012others(5): Show | a0001c0008t0002a0001c0010t0001a0001c0012t0001others(6): Show | a0001c0008t0002g0026a0001c0010t0001g0027a0001c0012t0001g0037others(6): Show | 9 | 158 | 0.0570 | -8 | c.315 others(25): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 41/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138692463 | ATGTGTGT others(1): Show |
A | intron_variant | MODIFIER | HG02717.hp1 HG02717.hp2 HG03486.hp1 |
a0001 | a0001c0008a0001c0017 | a0001c0008t0002a0001c0017t0005 | a0001c0008t0002g0093a0001c0008t0002g0096a0001c0017t0005g0152 | 3 | 158 | 0.0190 | -8 | c.275 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 35/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138710588 | AATCTATC others(1): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG03704.hp1 HG04199.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0003 | a0001c0001t0001g0101a0001c0001t0001g0124a0001c0002t0003g0009 | 3 | 158 | 0.0190 | -8 | c.251 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 30/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138725752 | GACACACA others(1): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG01081.hp1 HG01167.hp2 others(16): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0015others(11): Show | a0001c0001t0003a0001c0002t0001a0001c0002t0003others(14): Show | a0001c0001t0003g0003a0001c0002t0001g0016a0001c0002t0001g0049others(16): Show | 19 | 158 | 0.1203 | -8 | c.214 others(25): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 23/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138845516 | AAAATAAA others(1): Show |
A | intron_variant | MODIFIER | HG02647.hp2 HG02717.hp1 HG02809.hp1 others(3): Show |
a0001a0002 | a0001c0008a0001c0010a0001c0024others(1): Show | a0001c0008t0001a0001c0008t0002a0001c0010t0007others(2): Show | a0001c0008t0001g0041a0001c0008t0002g0096a0001c0008t0002g0133others(3): Show | 6 | 158 | 0.0380 | -8 | c.659 others(25): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 3/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138902735 | TATATACA others(1): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG02717.hp2 |
a0001 | a0001c0002a0001c0017 | a0001c0002t0005a0001c0017t0005 | a0001c0002t0005g0151a0001c0017t0005g0152 | 2 | 158 | 0.0127 | -8 | c.-73 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 1/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138902737 | TATACACA others(1): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG03540.hp2 HG03579.hp2 others(1): Show |
a0001a0003a0008 | a0001c0017a0003c0020a0008c0055 | a0001c0017t0005a0001c0017t0007a0003c0020t0007others(1): Show | a0001c0017t0005g0149a0001c0017t0007g0147a0003c0020t0007g0150others(1): Show | 4 | 158 | 0.0253 | -8 | c.-73 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 1/64 | chr8 | TogoVar | ||||||
COL22A1_chr8_138583235_138919041 | 138902739 | TACACACA others(1): Show |
T | intron_variant | MODIFIER | HG03225.hp1 HG03453.hp1 |
a0002a0009 | a0002c0004a0009c0047 | a0002c0004t0008a0009c0047t0001 | a0002c0004t0008g0099a0009c0047t0001g0098 | 2 | 158 | 0.0127 | -8 | c.-73 others(27): Show |
COL22A1 | ENSG00000169436.18 | transcript | ENST00000303045.11 | protein_coding | 1/64 | chr8 | TogoVar |