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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL6A6_chr3_130512177_130682042 | 130590296 | TATA | T | intron_variant | MODIFIER | HG01074.hp2 HG02630.hp1 HG03017.hp2 |
a0012a0029a0047 | a0012c0009a0029c0085a0047c0048 | a0012c0009t0005a0029c0085t0007a0047c0048t0003 | a0012c0009t0005g0063a0029c0085t0007g0239a0047c0048t0003g0120 | 3 | 264 | 0.0114 | -3 | c.421 others(20): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130608510 | TATA | T | intron_variant | MODIFIER | HG01070.hp1 HG01074.hp1 HG01255.hp1 others(4): Show |
a0002a0003a0006 | a0002c0002a0003c0010a0006c0007 | a0002c0002t0003a0002c0002t0005a0003c0010t0003others(1): Show | a0002c0002t0003g0134a0002c0002t0003g0162a0002c0002t0005g0070others(4): Show | 7 | 264 | 0.0265 | -3 | c.469 others(20): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 21/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130609952 | CTTT | C | intron_variant | MODIFIER | HG01070.hp1 HG01074.hp1 HG01081.hp1 others(4): Show |
a0002a0021a0033 | a0002c0002a0021c0030a0033c0077 | a0002c0002t0003a0002c0002t0005a0002c0002t0022others(3): Show | a0002c0002t0003g0116a0002c0002t0003g0134a0002c0002t0005g0070others(4): Show | 7 | 264 | 0.0265 | -3 | c.475 others(20): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 22/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130636712 | ACTC | A | intron_variant | MODIFIER | HG02572.hp1 HG02615.hp1 HG03453.hp2 |
a0021a0033 | a0021c0030a0033c0077 | a0021c0030t0001a0021c0030t0004a0033c0077t0001 | a0021c0030t0001g0156a0021c0030t0004g0103a0033c0077t0001g0148 | 3 | 264 | 0.0114 | -3 | c.509 others(20): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130645227 | TAAA | T | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(92): Show |
a0002a0003a0005others(21): Show | a0002c0002a0003c0010a0003c0013others(43): Show | a0002c0002t0004a0003c0010t0004a0003c0013t0003others(73): Show | a0002c0002t0004g0202a0003c0010t0004g0222a0003c0013t0003g0262others(90): Show | 95 | 264 | 0.3599 | -3 | c.523 others(20): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 32/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130649758 | CTAT | C | intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG00597.hp2 others(61): Show |
a0002a0003a0006others(14): Show | a0002c0002a0002c0051a0003c0010others(19): Show | a0002c0002t0001a0002c0002t0002a0002c0002t0003others(32): Show | a0002c0002t0001g0013a0002c0002t0001g0095a0002c0002t0001g0124others(61): Show | 64 | 264 | 0.2424 | -3 | c.573 others(20): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130657574 | AAAC | A | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(10): Show |
a0003a0006a0008others(2): Show | a0003c0010a0006c0007a0008c0006others(2): Show | a0003c0010t0001a0006c0007t0001a0006c0007t0002others(4): Show | a0003c0010t0001g0181a0006c0007t0001g0191a0006c0007t0001g0194others(10): Show | 13 | 264 | 0.0492 | -3 | c.573 others(22): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 33/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL6A6_chr3_130512177_130682042 | 130665973 | CACA | C | intron_variant | MODIFIER | HG02109.hp2 HG02630.hp2 HG02897.hp2 |
a0002a0014 | a0002c0002a0014c0011 | a0002c0002t0004a0014c0011t0001a0014c0011t0004 | a0002c0002t0004g0219a0014c0011t0001g0177a0014c0011t0004g0217 | 3 | 264 | 0.0114 | -3 | c.659 others(20): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 36/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL8A1_chr3_99633594_99804217 | 99633640 | TGTG | T | upstream_gene_variant | MODIFIER | HG02723.hp2 HG02976.hp1 HG03041.hp2 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0007a0001c0001t0008a0001c0001t0011others(1): Show | a0001c0001t0007g0255a0001c0001t0008g0256a0001c0001t0011g0257others(1): Show | 4 | 262 | 0.0153 | -3 | c.-51 others(14): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4953 | chr3 | TogoVar | ||||||
COL8A1_chr3_99633594_99804217 | 99678702 | ATTG | A | intron_variant | MODIFIER | HG00639.hp1 HG02818.hp1 HG02886.hp2 |
a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211 | 3 | 262 | 0.0115 | -3 | c.-12 others(24): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL8A1_chr3_99633594_99804217 | 99686176 | AAAT | A | intron_variant | MODIFIER | HG00438.hp1 HG00735.hp1 HG00735.hp2 others(21): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0001t0012others(4): Show | a0001c0001t0001g0031a0001c0001t0001g0054a0001c0001t0001g0055others(21): Show | 24 | 262 | 0.0916 | -3 | c.-12 others(24): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL8A1_chr3_99633594_99804217 | 99696976 | ATTT | A | intron_variant | MODIFIER | HG00741.hp1 HG01943.hp2 HG02257.hp1 others(7): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(2): Show | a0001c0001t0001g0081a0001c0001t0001g0118a0001c0001t0001g0143others(7): Show | 10 | 262 | 0.0382 | -3 | c.-12 others(24): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL8A1_chr3_99633594_99804217 | 99727018 | CATG | C | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(103): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0005others(12): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(101): Show | 106 | 262 | 0.4046 | -3 | c.-12 others(24): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL8A1_chr3_99633594_99804217 | 99733148 | TTTA | T | intron_variant | MODIFIER | HG00639.hp2 HG01168.hp1 HG01169.hp1 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0009others(2): Show | a0001c0001t0001g0008a0001c0001t0001g0016a0001c0001t0001g0023others(23): Show | 26 | 262 | 0.0992 | -3 | c.-12 others(24): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL8A1_chr3_99633594_99804217 | 99733432 | AATG | A | intron_variant | MODIFIER | HG00438.hp1 HG00544.hp2 HG00597.hp1 others(64): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(13): Show | a0001c0001t0002g0154a0001c0001t0003g0088a0001c0001t0003g0130others(64): Show | 67 | 262 | 0.2557 | -3 | c.-12 others(24): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL8A1_chr3_99633594_99804217 | 99752636 | TCTC | T | intron_variant | MODIFIER | HG00639.hp1 HG02280.hp1 HG02818.hp1 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0008a0001c0001t0023others(1): Show | a0001c0001t0006g0207a0001c0001t0006g0210a0001c0001t0006g0211others(4): Show | 7 | 262 | 0.0267 | -3 | c.-4+ others(18): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL8A1_chr3_99633594_99804217 | 99800245 | AGGC | A | downstream_gene_variant | MODIFIER | HG02809.hp1 HG03209.hp1 HG03471.hp1 |
a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0005a0001c0001t0014g0047a0001c0001t0014g0205 | 3 | 262 | 0.0115 | -3 | c.*41 others(14): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1029 | chr3 | TogoVar | ||||||
COL8A2_chr1_36090239_36130222 | 36090679 | CAAA | C | downstream_gene_variant | MODIFIER | HG00438.hp2 HG00544.hp2 HG00597.hp2 others(41): Show |
a0001a0002a0006 | a0001c0001a0002c0003a0002c0004others(2): Show | a0001c0001t0002a0002c0003t0002a0002c0003t0009others(6): Show | a0001c0001t0002g0029a0001c0001t0002g0198a0002c0003t0002g0014others(37): Show | 44 | 390 | 0.1128 | -3 | c.*68 others(14): Show |
COL8A2 | ENSG00000171812.13 | transcript | ENST00000397799.2 | protein_coding | 4559 | chr1 | TogoVar | ||||||
COL8A2_chr1_36090239_36130222 | 36104185 | ACTC | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp2 others(123): Show |
a0001a0003a0010 | a0001c0001a0001c0018a0003c0005others(1): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0007others(8): Show | a0001c0001t0001g0001a0001c0001t0001g0004a0001c0001t0001g0005others(104): Show | 126 | 390 | 0.3231 | -3 | c.-16 others(20): Show |
COL8A2 | ENSG00000171812.13 | transcript | ENST00000397799.2 | protein_coding | 2/3 | chr1 | TogoVar | ||||||
COL9A1_chr6_70211126_70308084 | 70220139 | GTCA | G | intron_variant | MODIFIER | HG00741.hp1 HG01167.hp1 HG01169.hp2 others(23): Show |
a0002a0003a0006 | a0002c0004a0002c0008a0003c0003others(2): Show | a0002c0004t0004a0002c0004t0008a0002c0004t0011others(6): Show | a0002c0004t0004g0246a0002c0004t0004g0274a0002c0004t0008g0123others(21): Show | 26 | 362 | 0.0718 | -3 | c.258 others(22): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 37/37 | chr6 | TogoVar | ||||||
COL9A1_chr6_70211126_70308084 | 70224543 | GAGA | G | intron_variant | MODIFIER | NA18965.hp1 NA18981.hp1 NA18982.hp1 others(2): Show |
a0004 | a0004c0009 | a0004c0009t0001 | a0004c0009t0001g0315a0004c0009t0001g0316a0004c0009t0001g0321others(2): Show | 5 | 362 | 0.0138 | -3 | c.258 others(22): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 37/37 | chr6 | TogoVar | ||||||
COL9A1_chr6_70211126_70308084 | 70226774 | TCTC | T | intron_variant | MODIFIER | HG01433.hp2 HG02074.hp1 HG02735.hp2 others(3): Show |
a0001a0002 | a0001c0001a0002c0004a0002c0016 | a0001c0001t0004a0002c0004t0004a0002c0016t0004 | a0001c0001t0004g0145a0001c0001t0004g0257a0002c0004t0004g0212others(3): Show | 6 | 362 | 0.0166 | -3 | c.250 others(20): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 36/37 | chr6 | TogoVar | ||||||
COL9A1_chr6_70211126_70308084 | 70235459 | TATA | T | intron_variant | MODIFIER | HG02040.hp1 HG02165.hp1 HG03491.hp2 others(21): Show |
a0001a0003a0005 | a0001c0030a0003c0006a0003c0013others(1): Show | a0001c0030t0003a0003c0006t0003a0003c0013t0003others(1): Show | a0001c0030t0003g0121a0003c0006t0003g0003a0003c0006t0003g0026others(20): Show | 24 | 362 | 0.0663 | -3 | c.211 others(20): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 33/37 | chr6 | TogoVar | ||||||
COL9A1_chr6_70211126_70308084 | 70236112 | CAAA | C | intron_variant | MODIFIER | HG00099.hp1 HG00639.hp2 HG00738.hp2 others(25): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0004a0002c0016others(7): Show | a0001c0001t0004a0002c0004t0001a0002c0004t0003others(11): Show | a0001c0001t0004g0145a0002c0004t0001g0105a0002c0004t0003g0286others(25): Show | 28 | 362 | 0.0774 | -3 | c.211 others(22): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 33/37 | chr6 | TogoVar | ||||||
COL9A1_chr6_70211126_70308084 | 70257048 | ATTT | A | intron_variant | MODIFIER | HG00741.hp2 HG01243.hp2 HG02055.hp1 others(7): Show |
a0002a0003a0005others(2): Show | a0002c0004a0002c0018a0003c0003others(3): Show | a0002c0004t0001a0002c0018t0006a0003c0003t0001others(4): Show | a0002c0004t0001g0059a0002c0018t0006g0343a0003c0003t0001g0231others(7): Show | 10 | 362 | 0.0276 | -3 | c.145 others(20): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 20/37 | chr6 | TogoVar | ||||||
COL9A1_chr6_70211126_70308084 | 70287633 | TCTC | T | intron_variant | MODIFIER | HG00408.hp1 HG00558.hp1 HG00597.hp1 others(133): Show |
a0001a0002a0003others(6): Show | a0001c0001a0001c0012a0002c0002others(13): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0009others(25): Show | a0001c0001t0002g0001a0001c0001t0002g0033a0001c0001t0002g0035others(126): Show | 136 | 362 | 0.3757 | -3 | c.697 others(20): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 5/37 | chr6 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40298269 | CAAA | C | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(222): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0010a0002c0002others(16): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0006others(20): Show | a0001c0001t0001g0001a0001c0001t0001g0003a0001c0001t0001g0009others(111): Show | 225 | 438 | 0.5137 | -3 | c.*29 others(14): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 2219 | chr1 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40298291 | AAAT | A | downstream_gene_variant | MODIFIER | HG00735.hp1 HG01099.hp1 HG01168.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001a0001c0001t0001g0021a0001c0001t0001g0156 | 7 | 438 | 0.0160 | -3 | c.*28 others(14): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 2197 | chr1 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40305058 | TTTC | T | intron_variant | MODIFIER | HG00423.hp1 HG00544.hp2 HG00609.hp2 others(61): Show |
a0002a0005a0010others(3): Show | a0002c0002a0005c0004a0010c0011others(3): Show | a0002c0002t0001a0005c0004t0001a0005c0004t0002others(5): Show | a0002c0002t0001g0006a0002c0002t0001g0013a0002c0002t0001g0019others(27): Show | 64 | 438 | 0.1461 | -3 | c.110 others(20): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 21/31 | chr1 | TogoVar | ||||||
COL9A2_chr1_40295489_40322286 | 40321126 | TATA | T | upstream_gene_variant | MODIFIER | HG02145.hp1 HG02723.hp1 NA20300.hp2 |
a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0026 | 3 | 438 | 0.0069 | -3 | c.-39 others(14): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3841 | chr1 | TogoVar | ||||||
COL9A3_chr20_62812050_62846159 | 62822830 | CCCT | C | intron_variant | MODIFIER | HG00438.hp1 HG00673.hp2 HG00738.hp1 others(30): Show |
a0002a0003a0004others(5): Show | a0002c0020a0003c0009a0003c0022others(10): Show | a0002c0020t0001a0003c0009t0001a0003c0009t0005others(14): Show | a0002c0020t0001g0099a0003c0009t0001g0013a0003c0009t0001g0081others(27): Show | 33 | 412 | 0.0801 | -3 | c.519 others(18): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 10/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL9A3_chr20_62812050_62846159 | 62824216 | CCCA | C | intron_variant | MODIFIER | HG00099.hp1 HG00609.hp1 HG01070.hp2 others(28): Show |
a0001a0024 | a0001c0001a0001c0002a0001c0004others(5): Show | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(6): Show | a0001c0001t0001g0002a0001c0001t0001g0017a0001c0001t0001g0025others(21): Show | 31 | 412 | 0.0752 | -3 | c.520 others(18): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 10/31 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
COL9A3_chr20_62812050_62846159 | 62845636 | GTCA | G | downstream_gene_variant | MODIFIER | HG00733.hp1 HG00741.hp1 HG01099.hp2 others(23): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0001c0011others(7): Show | a0001c0001t0001a0001c0001t0006a0001c0004t0001others(9): Show | a0001c0001t0001g0020a0001c0001t0001g0175a0001c0001t0001g0176others(19): Show | 26 | 412 | 0.0631 | -3 | c.*49 others(14): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 4478 | chr20 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119075892 | CTTT | C | intron_variant | MODIFIER | HG01168.hp2 HG01517.hp1 HG02723.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0059a0001c0001t0001g0179a0001c0001t0001g0186others(5): Show | 8 | 388 | 0.0206 | -3 | c.148 others(20): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC10_chr8_119062247_119113455 | 119076067 | ATTT | A | intron_variant | MODIFIER | HG02647.hp2 HG02809.hp1 HG02895.hp2 others(3): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0004a0001c0001t0006others(2): Show | a0001c0001t0001g0369a0001c0001t0004g0202a0001c0001t0006g0170others(3): Show | 6 | 388 | 0.0155 | -3 | c.148 others(20): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC10_chr8_119062247_119113455 | 119076262 | CTTT | C | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(212): Show |
a0001a0003 | a0001c0001a0001c0003a0001c0006others(1): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0006others(12): Show | a0001c0001t0001g0007a0001c0001t0001g0011a0001c0001t0001g0012others(198): Show | 215 | 388 | 0.5541 | -3 | c.148 others(20): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC10_chr8_119062247_119113455 | 119096061 | AAAT | A | intron_variant | MODIFIER | HG00099.hp1 HG01099.hp2 HG01123.hp2 others(23): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0012 | a0001c0001t0005g0008a0001c0001t0005g0192a0001c0001t0005g0193others(22): Show | 26 | 388 | 0.0670 | -3 | c.292 others(20): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | |||||
COLEC11_chr2_3590112_3649644 | 3591905 | TGGA | T | upstream_gene_variant | MODIFIER | HG00735.hp1 HG01346.hp2 HG01981.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204a0001c0001t0001g0251a0001c0001t0001g0257others(2): Show | 5 | 378 | 0.0132 | -3 | c.-32 others(14): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 3206 | chr2 | TogoVar | ||||||
COLEC11_chr2_3590112_3649644 | 3609349 | TTGA | T | intron_variant | MODIFIER | HG00423.hp2 HG00438.hp1 HG00621.hp1 others(78): Show |
a0001a0002a0007 | a0001c0001a0002c0002a0002c0003others(3): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(5): Show | a0001c0001t0001g0002a0001c0001t0001g0013a0001c0001t0001g0047others(76): Show | 81 | 378 | 0.2143 | -3 | c.131 others(20): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 2/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COLEC11_chr2_3590112_3649644 | 3615131 | TTTA | T | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(219): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0007a0001c0014others(7): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(10): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(213): Show | 222 | 378 | 0.5873 | -3 | c.202 others(20): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COLEC11_chr2_3590112_3649644 | 3615945 | GCTC | G | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00280.hp2 others(219): Show |
a0001a0002a0004others(2): Show | a0001c0001a0001c0007a0001c0014others(8): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(11): Show | a0001c0001t0001g0002a0001c0001t0001g0004a0001c0001t0001g0009others(213): Show | 222 | 378 | 0.5873 | -3 | c.202 others(20): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
COLEC12_chr18_311737_505701 | 319321 | TAAA | T | 3_prime_UTR_variant | MODIFIER | HG00597.hp1 HG02300.hp1 HG02451.hp1 others(5): Show |
a0001a0002a0003 | a0001c0003a0001c0005a0002c0001others(1): Show | a0001c0003t0025a0001c0003t0060a0001c0005t0247others(3): Show | a0001c0003t0025g0203a0001c0003t0025g0211a0001c0003t0060g0162others(5): Show | 8 | 366 | 0.0219 | -3 | c.*72 others(12): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 721 | chr18 | TogoVar | |||||
COLEC12_chr18_311737_505701 | 325627 | CTTT | C | intron_variant | MODIFIER | HG00408.hp2 HG00741.hp1 HG01099.hp2 others(8): Show |
a0001a0002a0003others(1): Show | a0001c0005a0002c0001a0003c0002others(1): Show | a0001c0005t0221a0002c0001t0020a0002c0001t0072others(8): Show | a0001c0005t0221g0028a0002c0001t0020g0209a0002c0001t0072g0066others(8): Show | 11 | 366 | 0.0301 | -3 | c.206 others(22): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 8/9 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 382765 | TCTC | T | intron_variant | MODIFIER | HG00408.hp2 HG00673.hp2 HG00741.hp2 others(45): Show |
a0001a0002a0003 | a0001c0003a0001c0004a0001c0005others(5): Show | a0001c0003t0004a0001c0003t0025a0001c0003t0027others(40): Show | a0001c0003t0004g0278a0001c0003t0004g0279a0001c0003t0025g0203others(45): Show | 48 | 366 | 0.1312 | -3 | c.59- others(20): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 385316 | ATTT | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp1 HG00738.hp2 others(44): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0005others(5): Show | a0001c0003t0003a0001c0003t0004a0001c0003t0005others(39): Show | a0001c0003t0003g0197a0001c0003t0004g0266a0001c0003t0005g0044others(43): Show | 47 | 366 | 0.1284 | -3 | c.59- others(20): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 401511 | AATT | A | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00558.hp1 others(102): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0004a0001c0005others(10): Show | a0001c0003t0002a0001c0003t0003a0001c0003t0004others(91): Show | a0001c0003t0002g0111a0001c0003t0002g0180a0001c0003t0003g0197others(102): Show | 105 | 366 | 0.2869 | -3 | c.59- others(20): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 406515 | CAAA | C | intron_variant | MODIFIER | HG00408.hp1 HG00642.hp1 HG00738.hp2 others(34): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0005others(3): Show | a0001c0003t0002a0001c0003t0003a0001c0003t0006others(31): Show | a0001c0003t0002g0199a0001c0003t0003g0352a0001c0003t0006g0018others(33): Show | 37 | 366 | 0.1011 | -3 | c.59- others(20): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 436525 | AGGG | A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(167): Show |
a0001a0002a0003others(8): Show | a0001c0003a0001c0004a0001c0005others(20): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0003others(138): Show | a0001c0003t0001g0302a0001c0003t0002g0124a0001c0003t0002g0180others(167): Show | 170 | 366 | 0.4645 | -3 | c.58+ others(20): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 461281 | TTAA | T | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00558.hp1 others(103): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0004a0001c0005others(10): Show | a0001c0003t0003a0001c0003t0004a0001c0003t0006others(92): Show | a0001c0003t0003g0352a0001c0003t0004g0056a0001c0003t0006g0018others(102): Show | 106 | 366 | 0.2896 | -3 | c.58+ others(20): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | ||||||
COLGALT1_chr19_17550649_17588157 | 17552245 | ATTT | A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG00597.hp1 HG00642.hp1 others(38): Show |
a0001a0002 | a0001c0001a0001c0008a0002c0006 | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(10): Show | a0001c0001t0002g0117a0001c0001t0002g0119a0001c0001t0005g0005others(32): Show | 41 | 396 | 0.1035 | -3 | c.-34 others(14): Show |
COLGALT1 | ENSG00000130309.12 | transcript | ENST00000252599.9 | protein_coding | 3403 | chr19 | TogoVar |