view | regionname | pos | ref | alt | annotation | impact | samples | ahapids | chapids | thapids | thapids | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL25A1_chr4_108803725_109307658 | 108868901 | GAGAAAAA others(3): Show |
G | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp2 HG02071.hp2 others(8): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(5): Show | a0001c0001t0001g0037 a0001c0001t0001g0069 a0001c0001t0001g0081 others(8): Show |
11 | 130 | 0.0846 | -10 | c.108 others(27): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 20/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108886442 | TTGTGTGT others(3): Show |
T | intron_variant | MODIFIER | HG01071.hp1 HG01891.hp1 HG02486.hp2 others(3): Show |
a0001 | a0001c0001a0001c0003a0001c0004 | a0001c0001t0002a0001c0003t0004a0001c0004t0001others(1): Show | a0001c0001t0002g0063 a0001c0003t0004g0001 a0001c0004t0001g0040 others(3): Show |
6 | 130 | 0.0462 | -10 | c.976 others(27): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 18/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108961568 | CCTGTTCT others(3): Show |
C | intron_variant | MODIFIER | HG01175.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0005 | a0001c0001t0001g0079 a0001c0001t0005g0078 |
2 | 130 | 0.0154 | -10 | c.492 others(29): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 8/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108990231 | AAAAAAAA others(3): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0113 | 1 | 130 | 0.0077 | -10 | c.439 others(29): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108990239 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | NA18952.hp2 NA19086.hp2 |
a0001 | a0001c0001a0001c0009 | a0001c0001t0002a0001c0009t0002 | a0001c0001t0002g0091 a0001c0009t0002g0097 |
2 | 130 | 0.0154 | -10 | c.439 others(29): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 108991655 | CTGCACAC others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(92): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(37): Show | a0001c0001t0001g0037 a0001c0001t0001g0048 a0001c0001t0001g0059 others(92): Show |
95 | 130 | 0.7308 | -10 | c.439 others(29): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 6/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109018503 | CGTGAGCC others(3): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02809.hp2 HG02965.hp2 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0026others(1): Show | a0001c0001t0001g0080 a0001c0001t0002g0058 a0001c0001t0026g0046 others(1): Show |
4 | 130 | 0.0308 | -10 | c.421 others(27): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109026100 | GCACACAC others(3): Show |
G | intron_variant | MODIFIER | HG02976.hp2 | a0001 | a0001c0003 | a0001c0003t0004 | a0001c0003t0004g0001 | 1 | 130 | 0.0077 | -10 | c.421 others(29): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 5/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109051616 | TACATACA others(3): Show |
T | intron_variant | MODIFIER | HG00735.hp2 | a0001 | a0001c0002 | a0001c0002t0010 | a0001c0002t0010g0030 | 1 | 130 | 0.0077 | -10 | c.368 others(27): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109194322 | ACAGTGTT others(3): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 130 | 0.0077 | -10 | c.367 others(31): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109211290 | CTATATAT others(3): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG02922.hp1 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0118 a0001c0002t0001g0052 |
2 | 130 | 0.0154 | -10 | c.367 others(29): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109211446 | CTTCCTTA others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00558.hp2 others(85): Show |
a0001a0002 | a0001c0001a0001c0002a0001c0003others(4): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(33): Show | a0001c0001t0001g0037 a0001c0001t0001g0041 a0001c0001t0001g0059 others(85): Show |
88 | 130 | 0.6769 | -10 | c.367 others(29): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109239390 | GTGTGTAT others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG01891.hp1 HG02280.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(4): Show | a0001c0001t0001g0041 a0001c0001t0001g0059 a0001c0001t0001g0069 others(14): Show |
17 | 130 | 0.1308 | -10 | c.367 others(29): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109239422 | ATTTATTT others(3): Show |
A | intron_variant | MODIFIER | HG00639.hp2 HG01175.hp2 |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0006t0015 | a0001c0001t0001g0079 a0001c0006t0015g0022 |
2 | 130 | 0.0154 | -10 | c.367 others(29): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109265518 | CGTGTGTG others(3): Show |
C | intron_variant | MODIFIER | HG02886.hp1 HG03579.hp1 HG03704.hp2 others(1): Show |
a0001 | a0001c0001a0001c0004 | a0001c0001t0001a0001c0001t0026a0001c0004t0004 | a0001c0001t0001g0062 a0001c0001t0001g0114 a0001c0001t0026g0046 others(1): Show |
4 | 130 | 0.0308 | -10 | c.367 others(29): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109288958 | TATATACA others(3): Show |
T | intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0028 | 1 | 130 | 0.0077 | -10 | c.367 others(29): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL25A1_chr4_108803725_109307658 | 109288960 | TATACACA others(3): Show |
T | intron_variant | MODIFIER | HG00558.hp2 HG00735.hp2 HG01071.hp2 others(13): Show |
a0001a0003 | a0001c0001a0001c0002a0001c0003others(1): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(10): Show | a0001c0001t0001g0080 a0001c0001t0002g0117 a0001c0001t0002g0118 others(13): Show |
16 | 130 | 0.1231 | -10 | c.367 others(29): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101361767 | AAAAGAAA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG01884.hp2 HG02055.hp2 HG02809.hp1 others(6): Show |
a0001a0002 | a0001c0001a0001c0005a0002c0004 | a0001c0001t0002a0001c0001t0008a0001c0005t0002others(4): Show | a0001c0001t0002g0174 a0001c0001t0008g0169 a0001c0005t0002g0149 others(6): Show |
9 | 174 | 0.0517 | -10 | c.-12 others(21): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1107 | chr7 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101385154 | CAGAAACA others(3): Show |
C | intron_variant | MODIFIER | HG02055.hp1 | a0003 | a0003c0020 | a0003c0020t0008 | a0003c0020t0008g0066 | 1 | 174 | 0.0058 | -10 | c.158 others(29): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101387744 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0115 | 1 | 174 | 0.0058 | -10 | c.158 others(29): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101391854 | CTTTCTTT others(3): Show |
C | intron_variant | MODIFIER | HG00140.hp2 HG00323.hp1 HG00597.hp2 others(50): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(8): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0008others(18): Show | a0001c0001t0002g0084 a0001c0001t0002g0122 a0001c0001t0002g0124 others(50): Show |
53 | 174 | 0.3046 | -10 | c.159 others(29): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101419074 | TCCTCCCC others(3): Show |
T | intron_variant | MODIFIER | HG02055.hp2 HG02109.hp1 HG02647.hp1 others(7): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0003others(2): Show | a0001c0001t0002a0001c0001t0008a0001c0002t0006others(5): Show | a0001c0001t0002g0174 a0001c0001t0008g0115 a0001c0001t0008g0169 others(7): Show |
10 | 174 | 0.0575 | -10 | c.159 others(25): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101463498 | TTTCCCTT others(3): Show |
T | intron_variant | MODIFIER | HG02451.hp1 HG02818.hp2 |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001 | a0001c0001t0002g0151 a0002c0003t0001g0065 |
2 | 174 | 0.0115 | -10 | c.385 others(29): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101466831 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG02896.hp2 HG03669.hp2 |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0002a0001c0002t0020a0001c0009t0003 | a0001c0001t0002g0174 a0001c0002t0020g0001 a0001c0009t0003g0026 |
3 | 174 | 0.0172 | -10 | c.385 others(29): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101473608 | CCACACAC others(3): Show |
C | intron_variant | MODIFIER | HG03516.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0138 | 1 | 174 | 0.0058 | -10 | c.385 others(29): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101489679 | TCCTTTCT others(3): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG01081.hp2 HG01167.hp1 others(2): Show |
a0001a0002 | a0001c0008a0002c0006 | a0001c0008t0007a0002c0006t0004 | a0001c0008t0007g0069 a0001c0008t0007g0075 a0001c0008t0007g0076 others(2): Show |
5 | 174 | 0.0287 | -10 | c.385 others(29): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | chr7 | TogoVar | |||||||
COL26A1_chr7_101357875_101564024 | 101489723 | TTCTCTCT others(3): Show |
T | intron_variant | MODIFIER | HG02615.hp1 | a0002 | a0002c0004 | a0002c0004t0001 | a0002c0004t0001g0156 | 1 | 174 | 0.0058 | -10 | c.385 others(29): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101494127 | CGTTTTGT others(3): Show |
C | intron_variant | MODIFIER | HG02486.hp1 HG02922.hp1 HG03195.hp1 others(1): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0002a0002c0003t0001 | a0001c0001t0002g0064 a0001c0001t0002g0084 a0002c0003t0001g0100 others(1): Show |
4 | 174 | 0.0230 | -10 | c.386 others(29): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101502348 | CAACAACA others(3): Show |
C | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0120 | 1 | 174 | 0.0058 | -10 | c.386 others(29): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101534654 | TACACACA others(3): Show |
T | intron_variant | MODIFIER | HG02809.hp2 | a0001 | a0001c0005 | a0001c0005t0011 | a0001c0005t0011g0147 | 1 | 174 | 0.0058 | -10 | c.447 others(27): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101546870 | GAGAAGTG others(3): Show |
G | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp1 others(50): Show |
a0001a0002a0005 | a0001c0005a0001c0008a0001c0009others(5): Show | a0001c0005t0002a0001c0005t0005a0001c0005t0008others(13): Show | a0001c0005t0002g0118 a0001c0005t0002g0149 a0001c0005t0002g0155 others(50): Show |
53 | 174 | 0.3046 | -10 | c.857 others(25): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 7/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL26A1_chr7_101357875_101564024 | 101554567 | TAAAAAAA others(3): Show |
T | intron_variant | MODIFIER | HG00323.hp1 | a0002 | a0002c0007 | a0002c0007t0004 | a0002c0007t0004g0037 | 1 | 174 | 0.0058 | -10 | c.108 others(29): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 11/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COL27A1_chr9_114150537_114317511 | 114309231 | AGCCGCTC others(3): Show |
A | intron_variant | MODIFIER | NA18994.hp1 NA19077.hp1 |
a0001a0017 | a0001c0148a0017c0024 | a0001c0148t0001a0017c0024t0001 | a0001c0148t0001g0248 a0017c0024t0001g0178 |
2 | 308 | 0.0065 | -10 | c.521 others(25): Show |
COL27A1 | ENSG00000196739.15 | transcript | ENST00000356083.8 | protein_coding | 59/60 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
COL28A1_chr7_7352875_7540873 | 7383280 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG02145.hp2 HG02615.hp1 HG03041.hp2 others(1): Show |
a0002 | a0002c0002a0002c0004 | a0002c0002t0002a0002c0004t0003 | a0002c0002t0002g0004 a0002c0004t0003g0032 a0002c0004t0003g0068 others(1): Show |
4 | 196 | 0.0204 | -10 | c.213 others(29): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 27/34 | chr7 | TogoVar | |||||||
COL28A1_chr7_7352875_7540873 | 7383694 | ATATATAT others(3): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02257.hp1 HG02257.hp2 others(20): Show |
a0001a0002a0003others(7): Show | a0001c0007a0002c0004a0002c0049others(8): Show | a0001c0007t0003a0002c0004t0003a0002c0049t0003others(8): Show | a0001c0007t0003g0102 a0001c0007t0003g0175 a0001c0007t0003g0176 others(20): Show |
23 | 196 | 0.1174 | -10 | c.213 others(29): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 27/34 | chr7 | TogoVar | |||||||
COL28A1_chr7_7352875_7540873 | 7400975 | GGTGTGTG others(3): Show |
G | intron_variant | MODIFIER | HG02723.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0015 | 1 | 196 | 0.0051 | -10 | c.213 others(31): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 27/34 | chr7 | TogoVar | |||||||
COL28A1_chr7_7352875_7540873 | 7417529 | GGAGGGAG others(3): Show |
G | intron_variant | MODIFIER | HG00741.hp1 HG00741.hp2 HG02004.hp1 others(9): Show |
a0001a0002a0003others(1): Show | a0001c0001a0002c0002a0003c0003others(2): Show | a0001c0001t0001a0002c0002t0001a0003c0003t0001others(3): Show | a0001c0001t0001g0157 a0001c0001t0001g0158 a0002c0002t0001g0126 others(9): Show |
12 | 196 | 0.0612 | -10 | c.213 others(27): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 27/34 | chr7 | TogoVar | |||||||
COL28A1_chr7_7352875_7540873 | 7443432 | TCTTCCAA others(3): Show |
T | intron_variant | MODIFIER | HG02965.hp2 NA18522.hp2 |
a0006a0017 | a0006c0030a0017c0020 | a0006c0030t0003a0017c0020t0001 | a0006c0030t0003g0065 a0017c0020t0001g0086 |
2 | 196 | 0.0102 | -10 | c.165 others(27): Show |
COL28A1 | ENSG00000215018.10 | transcript | ENST00000399429.8 | protein_coding | 20/34 | chr7 | TogoVar | |||||||
COL2A1_chr12_47967967_48009476 | 48008103 | AAGAGAGA others(3): Show |
A | upstream_gene_variant | MODIFIER | HG02630.hp1 HG02886.hp2 |
a0001 | a0001c0014a0001c0039 | a0001c0014t0001a0001c0039t0001 | a0001c0014t0001g0043 a0001c0039t0001g0197 |
2 | 414 | 0.0048 | -10 | c.-37 others(21): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 3628 | chr12 | TogoVar | |||||||
COL2A1_chr12_47967967_48009476 | 48008115 | GAGAGAGA others(3): Show |
G | upstream_gene_variant | MODIFIER | HG02109.hp1 HG04184.hp2 NA18988.hp1 others(1): Show |
a0001a0004 | a0001c0003a0001c0004a0004c0007 | a0001c0003t0001a0001c0004t0001a0004c0007t0001 | a0001c0003t0001g0006 a0001c0003t0001g0136 a0001c0004t0001g0057 others(1): Show |
4 | 414 | 0.0097 | -10 | c.-38 others(21): Show |
COL2A1 | ENSG00000139219.19 | transcript | ENST00000380518.8 | protein_coding | 3640 | chr12 | TogoVar | |||||||
COL3A1_chr2_188969373_189017746 | 188996286 | ATATGTAT others(3): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01106.hp1 HG01891.hp2 others(22): Show |
a0001 | a0001c0001a0001c0006 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0013 a0001c0001t0001g0044 a0001c0001t0001g0056 others(18): Show |
25 | 376 | 0.0665 | -10 | c.166 others(26): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 23/50 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL3A1_chr2_188969373_189017746 | 189007096 | AATATATA others(3): Show |
A | intron_variant | MODIFIER | HG02976.hp2 NA18522.hp1 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0008 | a0001c0001t0003g0216 a0001c0001t0008g0081 |
2 | 376 | 0.0053 | -10 | c.325 others(27): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 44/50 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL3A1_chr2_188969373_189017746 | 189013488 | AATATATA others(3): Show |
A | downstream_gene_variant | MODIFIER | HG01069.hp2 HG02647.hp2 HG02886.hp1 others(5): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0006a0001c0001t0008others(2): Show | a0001c0001t0001g0094 a0001c0001t0006g0046 a0001c0001t0006g0113 others(5): Show |
8 | 376 | 0.0213 | -10 | c.*17 others(21): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 743 | chr2 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110219678 | GTGTATAT others(3): Show |
G | intron_variant | MODIFIER | HG03579.hp1 NA19030.hp1 |
a0001a0002 | a0001c0010a0002c0023 | a0001c0010t0001a0002c0023t0003 | a0001c0010t0001g0113 a0002c0023t0003g0239 |
2 | 344 | 0.0058 | -10 | c.145 others(27): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110227387 | GACACACA others(3): Show |
G | intron_variant | MODIFIER | NA18612.hp1 | a0003 | a0003c0105 | a0003c0105t0001 | a0003c0105t0001g0235 | 1 | 344 | 0.0029 | -10 | c.145 others(29): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110227417 | CACACACA others(3): Show |
C | intron_variant | MODIFIER | HG00544.hp2 HG02015.hp1 HG02132.hp2 |
a0001a0002 | a0001c0001a0001c0032a0002c0091 | a0001c0001t0001a0001c0032t0001a0002c0091t0001 | a0001c0001t0001g0072 a0001c0032t0001g0108 a0002c0091t0001g0237 |
3 | 344 | 0.0087 | -10 | c.145 others(29): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 2/51 | chr13 | TogoVar | |||||||
COL4A1_chr13_110143963_110312157 | 110247826 | TGTGTGTG others(3): Show |
T | intron_variant | MODIFIER | NA19009.hp2 | a0001 | a0001c0007 | a0001c0007t0001 | a0001c0007t0001g0145 | 1 | 344 | 0.0029 | -10 | c.85- others(25): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
COL4A2_chr13_110302284_110518209 | 110370250 | TTTTTGTT others(3): Show |
T | intron_variant | MODIFIER | HG03453.hp2 NA19080.hp2 |
a0001a0002 | a0001c0003a0002c0055 | a0001c0003t0001a0002c0055t0016 | a0001c0003t0001g0232 a0002c0055t0016g0250 |
2 | 372 | 0.0054 | -10 | c.180 others(29): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 4/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227195687 | GTGTGTGT others(3): Show |
G | intron_variant | MODIFIER | HG02895.hp1 HG02897.hp1 HG03209.hp2 |
a0002 | a0002c0004a0002c0007 | a0002c0004t0013a0002c0007t0010 | a0002c0004t0013g0339 a0002c0004t0013g0340 a0002c0007t0010g0052 |
3 | 344 | 0.0087 | -10 | c.87+ others(27): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COL4A3_chr2_227159624_227319792 | 227202742 | AAAAAATA others(3): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00438.hp2 HG00558.hp1 others(102): Show |
a0001a0002a0003others(18): Show | a0001c0001a0001c0047a0002c0004others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(41): Show | a0001c0001t0001g0015 a0001c0001t0001g0018 a0001c0001t0001g0020 others(102): Show |
105 | 344 | 0.3052 | -10 | c.88- others(27): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar |