view | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL6A5_chr3_130340672_130489846 | 130417647 | TGTTGGG | T | intron_variant | MODIFIER | HG00438.hp1 HG00733.hp1 HG01069.hp1 others(34): Show |
a0007a0009a0017others(8): Show | a0007c0008a0007c0064a0007c0081others(11): Show | a0007c0008t0003a0007c0064t0006a0007c0081t0002others(12): Show | a0007c0008t0003g0001a0007c0008t0003g0062a0007c0008t0003g0063others(31): Show | 37 | 292 | 0.1267 | -6 | c.488 others(23): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 24/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A5_chr3_130340672_130489846 | 130439339 | TTGTGTG | T | intron_variant | MODIFIER | HG00140.hp1 HG00408.hp1 HG00408.hp2 others(91): Show |
a0001a0002a0006others(23): Show | a0001c0001a0001c0014a0001c0040others(28): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(40): Show | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(86): Show | 94 | 292 | 0.3219 | -6 | c.573 others(23): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 33/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A5_chr3_130340672_130489846 | 130475026 | AAAAAGG | A | intron_variant | MODIFIER | HG00140.hp1 HG00280.hp1 HG00280.hp2 others(93): Show |
a0001a0004a0006others(17): Show | a0001c0001a0001c0014a0001c0040others(22): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(27): Show | a0001c0001t0001g0106a0001c0001t0001g0186a0001c0001t0002g0010others(90): Show | 96 | 292 | 0.3288 | -6 | c.781 others(25): Show |
COL6A5 | ENSG00000172752.16 | transcript | ENST00000373157.9 | protein_coding | 40/40 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130513988 | GGTTAAA | G | upstream_gene_variant | MODIFIER | HG01243.hp1 HG03041.hp1 HG03453.hp1 others(1): Show |
a0003a0004a0006others(1): Show | a0003c0070a0004c0029a0006c0015others(1): Show | a0003c0070t0002a0004c0029t0002a0006c0015t0012others(1): Show | a0003c0070t0002g0035a0004c0029t0002g0036a0006c0015t0012g0033others(1): Show | 4 | 264 | 0.0152 | -6 | c.-34 others(17): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 3188 | chr3 | TogoVar | |||||||
COL6A6_chr3_130512177_130682042 | 130531033 | CACACAG | C | intron_variant | MODIFIER | HG00735.hp2 HG01167.hp2 HG02055.hp2 others(9): Show |
a0002a0006a0007others(6): Show | a0002c0002a0006c0063a0007c0032others(7): Show | a0002c0002t0003a0006c0063t0023a0007c0032t0003others(7): Show | a0002c0002t0003g0149a0006c0063t0023g0168a0007c0032t0003g0128others(8): Show | 12 | 264 | 0.0455 | -6 | c.-32 others(25): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130531061 | GTCTCTC | G | intron_variant | MODIFIER | HG00738.hp2 HG01167.hp1 HG01169.hp1 others(19): Show |
a0003a0006a0008others(5): Show | a0003c0010a0006c0063a0008c0006others(6): Show | a0003c0010t0001a0006c0063t0023a0008c0006t0001others(13): Show | a0003c0010t0001g0181a0006c0063t0023g0168a0008c0006t0001g0032others(19): Show | 22 | 264 | 0.0833 | -6 | c.-32 others(25): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130542898 | CTTTTTT | C | intron_variant | MODIFIER | HG00280.hp2 HG00408.hp2 HG00597.hp1 others(121): Show |
a0001a0002a0003others(26): Show | a0001c0001a0001c0056a0002c0002others(41): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(71): Show | a0001c0001t0001g0011a0001c0001t0001g0114a0001c0001t0001g0121others(120): Show | 124 | 264 | 0.4697 | -6 | c.-31 others(25): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 1/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130561634 | CTTTTTT | C | intron_variant | MODIFIER | HG00639.hp2 HG00735.hp1 HG01167.hp2 others(33): Show |
a0001a0002a0003others(12): Show | a0001c0001a0002c0002a0002c0051others(17): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0003others(25): Show | a0001c0001t0001g0133a0001c0001t0001g0142a0001c0001t0001g0146others(31): Show | 36 | 264 | 0.1364 | -6 | c.64+ others(21): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 2/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130590254 | CATATAT | C | intron_variant | MODIFIER | HG01257.hp2 HG02717.hp1 HG02922.hp2 others(5): Show |
a0001a0003a0004others(3): Show | a0001c0001a0003c0010a0004c0076others(4): Show | a0001c0001t0004a0003c0010t0001a0004c0076t0002others(5): Show | a0001c0001t0004g0003a0003c0010t0001g0181a0004c0076t0002g0053others(5): Show | 8 | 264 | 0.0303 | -6 | c.421 others(23): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 12/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130593906 | ACTTTGT | A | intron_variant | MODIFIER | HG00280.hp2 HG01074.hp2 HG03669.hp1 |
a0001a0012 | a0001c0001a0012c0009 | a0001c0001t0002a0012c0009t0003a0012c0009t0005 | a0001c0001t0002g0107a0012c0009t0003g0136a0012c0009t0005g0063 | 3 | 264 | 0.0114 | -6 | c.447 others(23): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 17/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130637061 | TCCCTCC | T | intron_variant | MODIFIER | HG01361.hp1 HG02145.hp2 NA19086.hp1 |
a0017a0036 | a0017c0019a0036c0068 | a0017c0019t0003a0017c0019t0009a0036c0068t0002 | a0017c0019t0003g0127a0017c0019t0009g0258a0036c0068t0002g0079 | 3 | 264 | 0.0114 | -6 | c.509 others(25): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130638705 | TATTCCA | T | intron_variant | MODIFIER | HG00280.hp1 HG00558.hp1 HG00558.hp2 others(135): Show |
a0001a0002a0003others(22): Show | a0001c0001a0002c0002a0003c0010others(44): Show | a0001c0001t0001a0001c0001t0002a0002c0002t0001others(87): Show | a0001c0001t0001g0195a0001c0001t0002g0163a0002c0002t0001g0013others(134): Show | 138 | 264 | 0.5227 | -6 | c.509 others(25): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 28/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL6A6_chr3_130512177_130682042 | 130642243 | ATGTGTG | A | intron_variant | MODIFIER | HG00558.hp2 HG00597.hp1 HG00621.hp1 others(44): Show |
a0003a0004a0005others(9): Show | a0003c0010a0004c0004a0004c0029others(14): Show | a0003c0010t0004a0004c0004t0002a0004c0029t0004others(31): Show | a0003c0010t0004g0222a0004c0004t0002g0026a0004c0029t0004g0236others(43): Show | 47 | 264 | 0.1780 | -6 | c.515 others(23): Show |
COL6A6 | ENSG00000206384.11 | transcript | ENST00000358511.11 | protein_coding | 29/36 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL7A1_chr3_48559073_48600329 | 48559898 | CCACACA | C | downstream_gene_variant | MODIFIER | HG01256.hp1 HG01928.hp2 HG01993.hp1 others(19): Show |
a0001a0002a0004others(1): Show | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0001a0001c0002t0001a0002c0003t0001others(2): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0011others(13): Show | 22 | 236 | 0.0932 | -6 | c.*45 others(17): Show |
COL7A1 | ENSG00000114270.18 | transcript | ENST00000681320.1 | protein_coding | 4174 | chr3 | TogoVar | |||||||
COL8A1_chr3_99633594_99804217 | 99669123 | TTATATA | T | intron_variant | MODIFIER | HG00323.hp1 HG00438.hp2 HG00738.hp2 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005a0001c0001t0022 | a0001c0001t0001g0183a0001c0001t0001g0184a0001c0001t0005g0066others(10): Show | 13 | 262 | 0.0496 | -6 | c.-12 others(27): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL8A1_chr3_99633594_99804217 | 99696976 | ATTTTTT | A | intron_variant | MODIFIER | HG00280.hp1 HG00544.hp2 HG00597.hp1 others(47): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(13): Show | a0001c0001t0001g0237a0001c0001t0002g0126a0001c0001t0002g0131others(47): Show | 50 | 262 | 0.1908 | -6 | c.-12 others(27): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL8A1_chr3_99633594_99804217 | 99721430 | AAAGGGG | A | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp2 HG00544.hp1 others(148): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0005others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(22): Show | a0001c0001t0001g0002a0001c0001t0001g0006a0001c0001t0001g0008others(146): Show | 151 | 262 | 0.5763 | -6 | c.-12 others(27): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 1/3 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
COL8A1_chr3_99633594_99804217 | 99798616 | ATATGTG | A | 3_prime_UTR_variant | MODIFIER | HG01516.hp2 HG01517.hp1 HG02055.hp1 |
a0001 | a0001c0001 | a0001c0001t0015a0001c0001t0028 | a0001c0001t0015g0003a0001c0001t0028g0225 | 3 | 262 | 0.0115 | -6 | c.*24 others(17): Show |
COL8A1 | ENSG00000144810.16 | transcript | ENST00000652472.1 | protein_coding | 4/4 | 2482 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
COL8A2_chr1_36090239_36130222 | 36126601 | GGTGTGT | G | upstream_gene_variant | MODIFIER | HG01167.hp1 HG01169.hp1 HG01884.hp1 others(5): Show |
a0001 | a0001c0001a0001c0020 | a0001c0001t0004a0001c0020t0010 | a0001c0001t0004g0011a0001c0001t0004g0322a0001c0001t0004g0323others(3): Show | 8 | 390 | 0.0205 | -6 | c.-16 others(17): Show |
COL8A2 | ENSG00000171812.13 | transcript | ENST00000397799.2 | protein_coding | 1380 | chr1 | TogoVar | |||||||
COL9A1_chr6_70211126_70308084 | 70220389 | GGTGTGT | G | intron_variant | MODIFIER | HG00099.hp1 HG00438.hp1 HG00597.hp1 others(124): Show |
a0001a0002a0003others(7): Show | a0001c0001a0001c0012a0001c0019others(13): Show | a0001c0001t0006a0001c0012t0001a0001c0019t0006others(15): Show | a0001c0001t0006g0342a0001c0012t0001g0120a0001c0012t0001g0131others(122): Show | 127 | 362 | 0.3508 | -6 | c.258 others(25): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 37/37 | chr6 | TogoVar | |||||||
COL9A1_chr6_70211126_70308084 | 70293629 | TTTCACA | T | intron_variant | MODIFIER | HG01884.hp2 HG02451.hp1 HG02717.hp1 others(1): Show |
a0002a0007a0008 | a0002c0004a0007c0014a0008c0023 | a0002c0004t0011a0007c0014t0001a0008c0023t0012 | a0002c0004t0011g0330a0007c0014t0001g0065a0007c0014t0001g0066others(1): Show | 4 | 362 | 0.0111 | -6 | c.696 others(21): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 5/37 | chr6 | TogoVar | |||||||
COL9A1_chr6_70211126_70308084 | 70293631 | TCACACA | T | intron_variant | MODIFIER | HG00099.hp2 HG00408.hp1 HG00558.hp1 others(40): Show |
a0001a0002a0003others(5): Show | a0001c0001a0002c0002a0002c0004others(8): Show | a0001c0001t0002a0001c0001t0003a0002c0002t0001others(10): Show | a0001c0001t0002g0033a0001c0001t0002g0035a0001c0001t0002g0068others(37): Show | 43 | 362 | 0.1188 | -6 | c.696 others(21): Show |
COL9A1 | ENSG00000112280.18 | transcript | ENST00000357250.11 | protein_coding | 5/37 | chr6 | TogoVar | |||||||
COL9A2_chr1_40295489_40322286 | 40321123 | TTATATA | T | upstream_gene_variant | MODIFIER | HG00642.hp1 HG01952.hp1 HG02004.hp2 others(18): Show |
a0002a0004a0015others(1): Show | a0002c0002a0004c0003a0015c0019others(1): Show | a0002c0002t0001a0004c0003t0001a0015c0019t0001others(1): Show | a0002c0002t0001g0030a0002c0002t0001g0157a0004c0003t0001g0007others(8): Show | 21 | 438 | 0.0480 | -6 | c.-39 others(17): Show |
COL9A2 | ENSG00000049089.15 | transcript | ENST00000372748.8 | protein_coding | 3838 | chr1 | TogoVar | |||||||
COL9A3_chr20_62812050_62846159 | 62844571 | GTTTGTT | G | downstream_gene_variant | MODIFIER | HG01891.hp2 HG02145.hp1 HG02970.hp1 |
a0001a0006 | a0001c0001a0001c0003a0006c0040 | a0001c0001t0007a0001c0003t0007a0006c0040t0007 | a0001c0001t0007g0172a0001c0003t0007g0352a0006c0040t0007g0074 | 3 | 412 | 0.0073 | -6 | c.*38 others(17): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 3413 | chr20 | TogoVar | |||||||
COL9A3_chr20_62812050_62846159 | 62844576 | TTTTTTG | T | downstream_gene_variant | MODIFIER | HG00733.hp1 HG01069.hp1 HG01071.hp2 others(11): Show |
a0001a0002a0003others(2): Show | a0001c0007a0001c0011a0001c0013others(6): Show | a0001c0007t0002a0001c0011t0002a0001c0013t0002others(6): Show | a0001c0007t0002g0011a0001c0007t0002g0066a0001c0007t0002g0068others(9): Show | 14 | 412 | 0.0340 | -6 | c.*38 others(17): Show |
COL9A3 | ENSG00000092758.18 | transcript | ENST00000649368.1 | protein_coding | 3418 | chr20 | TogoVar | |||||||
COLEC10_chr8_119062247_119113455 | 119069629 | AATATAT | A | intron_variant | MODIFIER | HG00673.hp2 HG01074.hp2 HG01361.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0007a0001c0001t0001g0179a0001c0001t0002g0182others(11): Show | 15 | 388 | 0.0387 | -6 | c.148 others(23): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119078990 | TACACAC | T | intron_variant | MODIFIER | HG01081.hp2 HG01099.hp1 HG01496.hp1 others(18): Show |
a0001a0002 | a0001c0001a0002c0004 | a0001c0001t0002a0001c0001t0015a0002c0004t0002 | a0001c0001t0002g0071a0001c0001t0002g0084a0001c0001t0002g0091others(18): Show | 21 | 388 | 0.0541 | -6 | c.149 others(25): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC10_chr8_119062247_119113455 | 119091597 | GAAAGAA | G | intron_variant | MODIFIER | HG02080.hp2 NA18969.hp1 NA18989.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0273a0001c0001t0001g0340a0001c0001t0001g0364 | 3 | 388 | 0.0077 | -6 | c.292 others(21): Show |
COLEC10 | ENSG00000184374.3 | transcript | ENST00000332843.3 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
COLEC11_chr2_3590112_3649644 | 3592262 | AGACGGG | A | upstream_gene_variant | MODIFIER | HG00423.hp1 HG01243.hp1 HG01358.hp2 others(8): Show |
a0001a0002 | a0001c0001a0002c0002a0002c0005 | a0001c0001t0001a0002c0002t0001a0002c0005t0002 | a0001c0001t0001g0072a0001c0001t0001g0073a0001c0001t0001g0095others(8): Show | 11 | 378 | 0.0291 | -6 | c.-29 others(17): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 2849 | chr2 | TogoVar | |||||||
COLEC11_chr2_3590112_3649644 | 3592304 | GGACGGA | G | upstream_gene_variant | MODIFIER | HG00609.hp2 HG02080.hp2 NA18952.hp1 others(6): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0002c0003t0001 | a0001c0001t0001g0067a0001c0001t0001g0071a0001c0001t0001g0145others(5): Show | 9 | 378 | 0.0238 | -6 | c.-28 others(17): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 2807 | chr2 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 315232 | TCACACA | T | downstream_gene_variant | MODIFIER | HG00642.hp2 HG00673.hp2 HG01071.hp1 others(66): Show |
a0001a0002a0003others(2): Show | a0001c0003a0001c0004a0001c0005others(8): Show | a0001c0003t0002a0001c0003t0004a0001c0003t0006others(55): Show | a0001c0003t0002g0254a0001c0003t0004g0056a0001c0003t0004g0071others(66): Show | 69 | 366 | 0.1885 | -6 | c.*48 others(17): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 1504 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 319321 | TAAAAAA | T | 3_prime_UTR_variant | MODIFIER | HG00438.hp1 HG00438.hp2 HG01123.hp2 others(24): Show |
a0001a0002a0003 | a0001c0003a0001c0004a0001c0005others(4): Show | a0001c0003t0012a0001c0003t0050a0001c0003t0063others(21): Show | a0001c0003t0012g0142a0001c0003t0012g0284a0001c0003t0050g0004others(24): Show | 27 | 366 | 0.0738 | -6 | c.*71 others(15): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 718 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 319337 | AAAAAAT | A | 3_prime_UTR_variant | MODIFIER | HG01106.hp1 HG02132.hp1 HG02615.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0002c0001others(2): Show | a0001c0003t0098a0001c0004t0097a0001c0004t0245others(4): Show | a0001c0003t0098g0160a0001c0004t0097g0080a0001c0004t0245g0167others(4): Show | 7 | 366 | 0.0191 | -6 | c.*70 others(15): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 10/10 | 702 | chr18 | TogoVar | ||||||
COLEC12_chr18_311737_505701 | 369397 | ATTTTTT | A | intron_variant | MODIFIER | HG01884.hp2 HG01891.hp1 HG01891.hp2 others(7): Show |
a0001a0002a0003 | a0001c0003a0001c0005a0002c0001others(1): Show | a0001c0003t0009a0001c0005t0062a0001c0005t0077others(7): Show | a0001c0003t0009g0344a0001c0005t0062g0201a0001c0005t0077g0304others(7): Show | 10 | 366 | 0.0273 | -6 | c.59- others(23): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 371505 | GGGTGCA | G | intron_variant | MODIFIER | HG00323.hp1 HG00621.hp1 HG00621.hp2 others(50): Show |
a0001a0002a0003others(5): Show | a0001c0003a0001c0004a0001c0005others(13): Show | a0001c0003t0001a0001c0003t0002a0001c0003t0050others(46): Show | a0001c0003t0001g0302a0001c0003t0002g0111a0001c0003t0002g0180others(50): Show | 53 | 366 | 0.1448 | -6 | c.59- others(23): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 385316 | ATTTTTT | A | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00438.hp2 others(67): Show |
a0001a0002a0003others(4): Show | a0001c0003a0001c0004a0001c0018others(10): Show | a0001c0003t0002a0001c0003t0004a0001c0003t0006others(61): Show | a0001c0003t0002g0111a0001c0003t0004g0278a0001c0003t0004g0279others(67): Show | 70 | 366 | 0.1913 | -6 | c.59- others(23): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 389208 | GACACAC | G | intron_variant | MODIFIER | HG00323.hp1 HG00323.hp2 HG00408.hp1 others(130): Show |
a0001a0002a0003others(3): Show | a0001c0003a0001c0004a0001c0005others(10): Show | a0001c0003t0002a0001c0003t0003a0001c0003t0004others(102): Show | a0001c0003t0002g0111a0001c0003t0002g0198a0001c0003t0002g0199others(128): Show | 133 | 366 | 0.3634 | -6 | c.59- others(23): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 440372 | CACACAT | C | intron_variant | MODIFIER | HG00597.hp2 HG00673.hp1 HG01074.hp2 others(19): Show |
a0001a0002a0003 | a0001c0003a0002c0001a0002c0007others(1): Show | a0001c0003t0012a0001c0003t0019a0001c0003t0189others(19): Show | a0001c0003t0012g0284a0001c0003t0019g0042a0001c0003t0189g0190others(19): Show | 22 | 366 | 0.0601 | -6 | c.58+ others(23): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 440378 | TACACAC | T | intron_variant | MODIFIER | HG01361.hp2 HG02451.hp1 HG02809.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0003a0001c0004a0001c0005others(3): Show | a0001c0003t0042a0001c0004t0227a0001c0005t0079others(6): Show | a0001c0003t0042g0130a0001c0004t0227g0288a0001c0005t0079g0034others(6): Show | 9 | 366 | 0.0246 | -6 | c.58+ others(23): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 442000 | TCTACAC | T | intron_variant | MODIFIER | HG01099.hp2 HG01515.hp2 HG02895.hp1 others(4): Show |
a0001a0002a0004others(2): Show | a0001c0004a0002c0001a0004c0006others(2): Show | a0001c0004t0239a0002c0001t0070a0002c0001t0095others(4): Show | a0001c0004t0239g0326a0002c0001t0070g0067a0002c0001t0095g0204others(4): Show | 7 | 366 | 0.0191 | -6 | c.58+ others(23): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 442002 | TACACAC | T | intron_variant | MODIFIER | HG00408.hp1 HG01256.hp1 HG01256.hp2 others(19): Show |
a0001a0002a0003 | a0001c0003a0001c0004a0001c0005others(3): Show | a0001c0003t0004a0001c0003t0013a0001c0003t0018others(17): Show | a0001c0003t0004g0056a0001c0003t0013g0002a0001c0003t0018g0100others(18): Show | 22 | 366 | 0.0601 | -6 | c.58+ others(23): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 472678 | CAAAAAA | C | intron_variant | MODIFIER | HG01167.hp2 HG02809.hp1 HG02965.hp1 others(4): Show |
a0001a0002a0003others(1): Show | a0001c0005a0002c0001a0003c0002others(1): Show | a0001c0005t0079a0001c0005t0197a0001c0005t0218others(4): Show | a0001c0005t0079g0034a0001c0005t0197g0009a0001c0005t0218g0240others(4): Show | 7 | 366 | 0.0191 | -6 | c.58+ others(21): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 2/9 | chr18 | TogoVar | |||||||
COLEC12_chr18_311737_505701 | 503770 | AAAAGAG | A | upstream_gene_variant | MODIFIER | HG01192.hp1 HG01255.hp1 HG01257.hp1 others(7): Show |
a0001a0002a0003others(1): Show | a0001c0003a0002c0001a0003c0002others(1): Show | a0001c0003t0009a0001c0003t0042a0002c0001t0222others(6): Show | a0001c0003t0009g0157a0001c0003t0009g0344a0001c0003t0042g0343others(7): Show | 10 | 366 | 0.0273 | -6 | c.-32 others(17): Show |
COLEC12 | ENSG00000158270.12 | transcript | ENST00000400256.5 | protein_coding | 3070 | chr18 | TogoVar | |||||||
COLGALT2_chr1_183930834_184042728 | 183993803 | TATTTTC | T | intron_variant | MODIFIER | HG00544.hp2 HG00558.hp2 HG00597.hp1 others(63): Show |
a0001a0002a0005others(2): Show | a0001c0001a0001c0002a0001c0004others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0001g0120a0001c0001t0001g0174a0001c0001t0001g0182others(63): Show | 66 | 340 | 0.1941 | -6 | c.264 others(25): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 1/11 | chr1 | TogoVar | |||||||
COLGALT2_chr1_183930834_184042728 | 184037754 | AGTGTGT | A | upstream_gene_variant | MODIFIER | HG01069.hp2 HG03209.hp1 HG06807.hp1 others(4): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(3): Show | a0001c0001t0001g0328a0001c0001t0003g0325a0001c0001t0005g0327others(4): Show | 7 | 340 | 0.0206 | -6 | c.-40 others(15): Show |
COLGALT2 | ENSG00000198756.12 | transcript | ENST00000361927.9 | protein_coding | 27 | chr1 | TogoVar | |||||||
COLQ_chr3_15445133_15526706 | 15445530 | ATTTTTT | A | downstream_gene_variant | MODIFIER | HG01109.hp2 HG02055.hp1 HG02615.hp2 others(12): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0001t0012a0001c0003t0004 | a0001c0001t0001g0188a0001c0001t0012g0268a0001c0003t0004g0028others(11): Show | 15 | 382 | 0.0393 | -6 | c.*61 others(17): Show |
COLQ | ENSG00000206561.14 | transcript | ENST00000383788.10 | protein_coding | 4602 | chr3 | TogoVar | |||||||
COMMD10_chr5_116080025_116298287 | 116130864 | AATAAGT | A | intron_variant | MODIFIER | HG01496.hp1 NA18949.hp1 NA19005.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0004a0001c0002t0001g0157a0001c0002t0001g0188 | 3 | 350 | 0.0086 | -6 | c.400 others(23): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COMMD10_chr5_116080025_116298287 | 116215695 | AATATAT | A | intron_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00280.hp1 others(80): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0004a0001c0002t0001others(2): Show | a0001c0001t0001g0204a0001c0001t0001g0205a0001c0001t0001g0207others(80): Show | 83 | 350 | 0.2371 | -6 | c.511 others(25): Show |
COMMD10 | ENSG00000145781.9 | transcript | ENST00000274458.9 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
COMMD1_chr2_61900674_62141058 | 61957087 | CGTGTGT | C | intron_variant | MODIFIER | HG01261.hp1 HG02451.hp1 HG02572.hp2 others(7): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0230a0001c0001t0001g0231a0001c0001t0001g0232others(7): Show | 10 | 286 | 0.0350 | -6 | c.181 others(25): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COMMD1_chr2_61900674_62141058 | 61996314 | ATGTGTG | A | intron_variant | MODIFIER | HG00140.hp1 HG00558.hp1 HG00558.hp2 others(67): Show |
a0001 | a0001c0001a0001c0002a0001c0005 | a0001c0001t0001a0001c0001t0003a0001c0002t0001others(1): Show | a0001c0001t0001g0012a0001c0001t0001g0026a0001c0001t0001g0027others(67): Show | 70 | 286 | 0.2448 | -6 | c.181 others(23): Show |
COMMD1 | ENSG00000173163.11 | transcript | ENST00000311832.6 | protein_coding | 1/2 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |