| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CMTM7_chr3_32386853_32460528 | 32430140 | AACTGATA others(16): Show |
A | intron_variant | MODIFIER | HG02970.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0272 | 1 | 368 | 0.0027 | -23 | c.160 others(42): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CNDP1_chr18_74529500_74592212 | 74531457 | TGTCCTTT others(16): Show |
T | upstream_gene_variant | MODIFIER | NA18964.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 390 | 0.0026 | -23 | c.-32 others(34): Show |
CNDP1 | ENSG00000150656.15 | transcript | ENST00000358821.8 | protein_coding | 3042 | chr18 | TogoVar | ||||||
| CNIH3_chr1_224611317_224745554 | 224674272 | GTTTTTTT others(16): Show |
G | intron_variant | MODIFIER | NA19002.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0177 | 1 | 358 | 0.0028 | -23 | c.82- others(38): Show |
CNIH3 | ENSG00000143786.8 | transcript | ENST00000272133.4 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CNKSR2_chrX_21369418_21659689 | 21656930 | CCCCCACC others(16): Show |
C | downstream_gene_variant | MODIFIER | NA19062.hp1 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0130 | 1 | 163 | 0.0061 | -23 | c.*44 others(34): Show |
CNKSR2 | ENSG00000149970.16 | transcript | ENST00000379510.5 | protein_coding | 2242 | chrX | TogoVar | ||||||
| CNN1_chr19_11533851_11555323 | 11546993 | AGGGGGTG others(16): Show |
A | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0131 | 1 | 392 | 0.0026 | -23 | c.390 others(36): Show |
CNN1 | ENSG00000130176.8 | transcript | ENST00000252456.7 | protein_coding | 4/6 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CNNM1_chr10_99324356_99399330 | 99384046 | GTTAAATG others(16): Show |
G | intron_variant | MODIFIER | HG02258.hp2 HG02572.hp2 NA19043.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0017 | a0001c0001t0001g0131a0001c0001t0002g0205a0001c0001t0017g0201 | 3 | 320 | 0.0094 | -23 | c.234 others(42): Show |
CNNM1 | ENSG00000119946.12 | transcript | ENST00000356713.5 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CNOT10_chr3_32680188_32778875 | 32762644 | ATAATAAC others(16): Show |
A | intron_variant | MODIFIER | HG01167.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0347 | 1 | 354 | 0.0028 | -23 | c.171 others(38): Show |
CNOT10 | ENSG00000182973.20 | transcript | ENST00000328834.10 | protein_coding | 14/18 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CNOT4_chr7_135356795_135515102 | 135472503 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0200 | 1 | 362 | 0.0028 | -23 | c.-92 others(42): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
| CNOT4_chr7_135356795_135515102 | 135472507 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0308 | 1 | 362 | 0.0028 | -23 | c.-92 others(42): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
| CNOT4_chr7_135356795_135515102 | 135472509 | AAAAAAAT others(16): Show |
A | intron_variant | MODIFIER | HG01256.hp2 HG03516.hp1 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0306a0002c0002t0001g0101 | 2 | 362 | 0.0055 | -23 | c.-92 others(42): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
| CNOT4_chr7_135356795_135515102 | 135495679 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG02897.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0223 | 1 | 362 | 0.0028 | -23 | c.-93 others(42): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
| CNOT4_chr7_135356795_135515102 | 135495683 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG02257.hp2 NA18967.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0021a0002c0002t0001g0093 | 2 | 362 | 0.0055 | -23 | c.-93 others(42): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
| CNOT4_chr7_135356795_135515102 | 135495687 | AAAAAAAG others(16): Show |
A | intron_variant | MODIFIER | HG00280.hp2 HG00438.hp2 HG02071.hp1 others(8): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0002c0002t0001 | a0001c0001t0001g0246a0001c0001t0001g0247a0001c0001t0001g0248others(8): Show | 11 | 362 | 0.0304 | -23 | c.-93 others(42): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
| CNOT6L_chr4_77708387_77824368 | 77714438 | TAAAAAAA others(16): Show |
T | 3_prime_UTR_variant | MODIFIER | HG00280.hp2 HG00323.hp1 HG00323.hp2 others(225): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0003a0001c0001t0005others(19): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0010others(224): Show | 228 | 328 | 0.6951 | -23 | c.*59 others(34): Show |
CNOT6L | ENSG00000138767.14 | transcript | ENST00000504123.7 | protein_coding | 12/12 | 5970 | chr4 | TogoVar | |||||
| CNOT6_chr5_180489379_180583358 | 180494461 | TGGCGGCG others(16): Show |
T | 5_prime_UTR_variant | MODIFIER | NA19004.hp2 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0001 | 1 | 334 | 0.0030 | -23 | c.-30 others(32): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 1/12 | 34789 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||
| CNOT6_chr5_180489379_180583358 | 180539551 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp2 HG01167.hp2 others(12): Show |
a0001 | a0001c0001 | a0001c0001t0005a0001c0001t0009a0001c0001t0010others(4): Show | a0001c0001t0005g0113a0001c0001t0009g0010a0001c0001t0009g0015others(12): Show | 15 | 334 | 0.0449 | -23 | c.112 others(42): Show |
CNOT6 | ENSG00000113300.13 | transcript | ENST00000261951.9 | protein_coding | 2/11 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | |||||
| CNTN1_chr12_40687439_41077415 | 41057163 | AAGATATT others(16): Show |
A | intron_variant | MODIFIER | HG01169.hp1 HG01515.hp2 HG01517.hp1 others(14): Show |
a0001 | a0001c0001a0001c0002a0001c0003 | a0001c0001t0003a0001c0001t0015a0001c0001t0017others(3): Show | a0001c0001t0003g0010a0001c0001t0003g0023a0001c0001t0003g0084others(14): Show | 17 | 230 | 0.0739 | -23 | c.298 others(44): Show |
CNTN1 | ENSG00000018236.15 | transcript | ENST00000551295.7 | protein_coding | 23/23 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CNTN3_chr3_74257568_74619659 | 74344396 | GGTTTTTT others(16): Show |
G | intron_variant | MODIFIER | HG00408.hp2 HG02622.hp2 |
a0001a0012 | a0001c0001a0012c0012 | a0001c0001t0006a0012c0012t0003 | a0001c0001t0006g0144a0012c0012t0003g0050 | 2 | 174 | 0.0115 | -23 | c.136 others(42): Show |
CNTN3 | ENSG00000113805.9 | transcript | ENST00000263665.7 | protein_coding | 11/22 | chr3 | TogoVar | ||||||
| CNTN3_chr3_74257568_74619659 | 74344397 | GTTTTTTT others(16): Show |
G | intron_variant | MODIFIER | NA19240.hp2 | a0003 | a0003c0003 | a0003c0003t0007 | a0003c0003t0007g0034 | 1 | 174 | 0.0058 | -23 | c.136 others(42): Show |
CNTN3 | ENSG00000113805.9 | transcript | ENST00000263665.7 | protein_coding | 11/22 | chr3 | TogoVar | ||||||
| CNTN5_chr11_99015949_100363885 | 99677295 | AATGGTGA others(16): Show |
A | intron_variant | MODIFIER | NA19070.hp2 | a0001 | a0001c0001 | a0001c0001t0014 | a0001c0001t0014g0016 | 1 | 66 | 0.0152 | -23 | c.55+ others(42): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CNTN6_chr3_1088024_1409217 | 1245218 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG02165.hp1 HG02970.hp1 others(7): Show |
a0001a0007 | a0001c0001a0001c0003a0001c0007others(1): Show | a0001c0001t0001a0001c0003t0001a0001c0007t0001others(1): Show | a0001c0001t0001g0047a0001c0001t0001g0054a0001c0001t0001g0082others(7): Show | 10 | 232 | 0.0431 | -23 | c.358 others(42): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
| CNTN6_chr3_1088024_1409217 | 1245272 | TATACACA others(16): Show |
T | intron_variant | MODIFIER | HG02056.hp1 HG04115.hp1 NA18949.hp1 others(3): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0001 | a0001c0001t0001g0024a0001c0001t0001g0033a0001c0003t0001g0076others(3): Show | 6 | 232 | 0.0259 | -23 | c.358 others(42): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CNTNAP2_chr7_146111801_148425998 | 146483283 | ATATATAT others(16): Show |
A | intron_variant | MODIFIER | HG02922.hp1 HG03098.hp2 NA18522.hp1 others(2): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0001a0001c0001t0012a0001c0001t0018others(2): Show | a0001c0001t0001g0038a0001c0001t0012g0034a0001c0001t0018g0001others(2): Show | 5 | 40 | 0.1250 | -23 | c.98- others(42): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | chr7 | TogoVar | ||||||
| CNTNAP2_chr7_146111801_148425998 | 146525565 | TATCTATC others(16): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0007 | 1 | 40 | 0.0250 | -23 | c.98- others(42): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CNTNAP2_chr7_146111801_148425998 | 147062127 | CAAAAAAA others(16): Show |
C | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0006 | a0001c0006t0014 | a0001c0006t0014g0033 | 1 | 40 | 0.0250 | -23 | c.550 others(42): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 4/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CNTNAP2_chr7_146111801_148425998 | 148123710 | GAGAAAGA others(16): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG02976.hp1 HG03139.hp1 |
a0001 | a0001c0001a0001c0008a0001c0015 | a0001c0001t0002a0001c0008t0001a0001c0015t0001 | a0001c0001t0002g0006a0001c0008t0001g0025a0001c0015t0001g0011 | 3 | 40 | 0.0750 | -23 | c.255 others(42): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 16/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CNTNAP4_chr16_76272401_76565757 | 76373121 | TATAAATA others(16): Show |
T | intron_variant | MODIFIER | HG02486.hp2 HG02723.hp2 HG02895.hp1 others(6): Show |
a0001a0002a0006others(1): Show | a0001c0001a0002c0002a0006c0009others(1): Show | a0001c0001t0003a0001c0001t0005a0001c0001t0015others(4): Show | a0001c0001t0003g0254a0001c0001t0005g0046a0001c0001t0005g0202others(6): Show | 9 | 274 | 0.0329 | -23 | c.390 others(42): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CNTNAP4_chr16_76272401_76565757 | 76373240 | AATAGGTG others(16): Show |
A | intron_variant | MODIFIER | HG00099.hp2 HG00280.hp2 HG00408.hp2 others(107): Show |
a0001a0002a0003others(14): Show | a0001c0001a0001c0004a0001c0015others(24): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(48): Show | a0001c0001t0001g0037a0001c0001t0001g0062a0001c0001t0001g0069others(107): Show | 110 | 274 | 0.4015 | -23 | c.390 others(42): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CNTNAP4_chr16_76272401_76565757 | 76373244 | GGTGAATA others(16): Show |
G | intron_variant | MODIFIER | HG02970.hp2 | a0002 | a0002c0002 | a0002c0002t0024 | a0002c0002t0024g0049 | 1 | 274 | 0.0037 | -23 | c.390 others(42): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124159458 | GGTGGCAG others(16): Show |
G | intron_variant | MODIFIER | HG02897.hp2 NA21309.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0001 | a0001c0001t0002g0024a0001c0002t0001g0054 | 2 | 64 | 0.0313 | -23 | c.83- others(40): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124565574 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG01069.hp2 HG01070.hp2 HG01261.hp2 others(21): Show |
a0001a0002a0005others(1): Show | a0001c0001a0001c0002a0002c0008others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0001t0006others(17): Show | a0001c0001t0001g0043a0001c0001t0002g0022a0001c0001t0002g0023others(21): Show | 24 | 64 | 0.3750 | -23 | c.175 others(42): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 11/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124702346 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG02922.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0013 | a0001c0001t0002g0023a0001c0001t0013g0041 | 2 | 64 | 0.0313 | -23 | c.207 others(44): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124746944 | ATGGGCAC others(16): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0033 | 1 | 64 | 0.0156 | -23 | c.207 others(40): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | chr2 | TogoVar | ||||||
| COA1_chr7_43634257_43734523 | 43691270 | AAAGAAAG others(16): Show |
A | intron_variant | MODIFIER | HG00438.hp2 HG00544.hp1 HG01123.hp1 others(10): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024a0001c0001t0001g0062a0001c0001t0001g0076others(10): Show | 13 | 384 | 0.0339 | -23 | c.-39 others(42): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
| COA1_chr7_43634257_43734523 | 43691407 | GGAAGGAA others(16): Show |
G | intron_variant | MODIFIER | NA18956.hp2 NA18981.hp2 NA18987.hp1 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0163a0001c0001t0001g0185a0001c0001t0001g0187others(2): Show | 5 | 384 | 0.0130 | -23 | c.-39 others(42): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
| COA1_chr7_43634257_43734523 | 43691411 | GGAAGAAA others(16): Show |
G | intron_variant | MODIFIER | HG02083.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0181 | 1 | 384 | 0.0026 | -23 | c.-39 others(42): Show |
COA1 | ENSG00000106603.20 | transcript | ENST00000223336.11 | protein_coding | 1/5 | chr7 | TogoVar | ||||||
| COCH_chr14_30869559_30895618 | 30893127 | ATTACAAA others(16): Show |
A | downstream_gene_variant | MODIFIER | HG01981.hp1 HG02572.hp2 HG03098.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0004 | a0001c0001t0001g0209a0001c0001t0002g0079a0001c0001t0002g0270others(3): Show | 6 | 478 | 0.0126 | -23 | c.*33 others(34): Show |
COCH | ENSG00000100473.18 | transcript | ENST00000396618.9 | protein_coding | 2510 | chr14 | TogoVar | ||||||
| COG2_chr1_230637481_230698982 | 230677587 | GGCTTTAA others(16): Show |
G | intron_variant | MODIFIER | HG00558.hp1 HG00597.hp1 HG00621.hp2 others(32): Show |
a0001 | a0001c0001a0001c0002a0001c0009 | a0001c0001t0001a0001c0001t0008a0001c0002t0001others(2): Show | a0001c0001t0001g0044a0001c0001t0001g0046a0001c0001t0001g0218others(21): Show | 35 | 406 | 0.0862 | -23 | c.102 others(42): Show |
COG2 | ENSG00000135775.14 | transcript | ENST00000366669.9 | protein_coding | 9/17 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| COG4_chr16_70475571_70528554 | 70506595 | AAAAAAAA others(16): Show |
A | intron_variant | MODIFIER | HG00639.hp1 HG01123.hp2 HG01257.hp2 others(4): Show |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0240a0001c0001t0002g0241a0001c0001t0002g0242others(4): Show | 7 | 354 | 0.0198 | -23 | c.106 others(42): Show |
COG4 | ENSG00000103051.21 | transcript | ENST00000323786.10 | protein_coding | 8/18 | chr16 | TogoVar | ||||||
| COG7_chr16_23383493_23458189 | 23408132 | GGGCGGGA others(16): Show |
G | intron_variant | MODIFIER | HG01081.hp1 NA18954.hp1 NA18973.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0204a0001c0001t0001g0230a0001c0001t0001g0233 | 3 | 272 | 0.0110 | -23 | c.147 others(42): Show |
COG7 | ENSG00000168434.13 | transcript | ENST00000307149.10 | protein_coding | 11/16 | chr16 | TogoVar | ||||||
| COL17A1_chr10_104026286_104090880 | 104059571 | CGAAGACA others(16): Show |
C | intron_variant | MODIFIER | NA18906.hp2 | a0006 | a0006c0008 | a0006c0008t0002 | a0006c0008t0002g0258 | 1 | 336 | 0.0030 | -23 | c.122 others(38): Show |
COL17A1 | ENSG00000065618.21 | transcript | ENST00000648076.2 | protein_coding | 15/55 | chr10 | TogoVar | ||||||
| COL18A1_chr21_45400165_45518720 | 45466455 | TTGAGCTC others(16): Show |
T | intron_variant | MODIFIER | HG02970.hp2 HG03195.hp1 |
a0001 | a0001c0037 | a0001c0037t0001 | a0001c0037t0001g0062a0001c0037t0001g0157 | 2 | 292 | 0.0069 | -23 | c.107 others(40): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL18A1_chr21_45400165_45518720 | 45490637 | TGGGCCTC others(16): Show |
T | intron_variant | MODIFIER | HG02809.hp1 HG02886.hp1 |
a0036a0037 | a0036c0048a0037c0049 | a0036c0048t0004a0037c0049t0004 | a0036c0048t0004g0184a0037c0049t0004g0183 | 2 | 292 | 0.0069 | -23 | c.203 others(40): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 20/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL19A1_chr6_69861556_70217468 | 69921388 | TATATATC others(16): Show |
T | intron_variant | MODIFIER | HG02615.hp2 HG02647.hp2 HG02723.hp1 others(3): Show |
a0002 | a0002c0003a0002c0004a0002c0006others(1): Show | a0002c0003t0012a0002c0004t0001a0002c0004t0006others(2): Show | a0002c0003t0012g0010a0002c0004t0001g0008a0002c0004t0006g0007others(3): Show | 6 | 182 | 0.0330 | -23 | c.267 others(40): Show |
COL19A1 | ENSG00000082293.13 | transcript | ENST00000620364.5 | protein_coding | 4/50 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| COL20A1_chr20_63288186_63339806 | 63305603 | CGGGTCCC others(16): Show |
C | intron_variant | MODIFIER | HG01891.hp1 | a0002 | a0002c0008 | a0002c0008t0003 | a0002c0008t0003g0103 | 1 | 290 | 0.0035 | -23 | c.337 others(36): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 4/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| COL21A1_chr6_56051590_56252580 | 56158246 | GTTTTTTC others(16): Show |
G | intron_variant | MODIFIER | HG02451.hp2 HG03540.hp2 |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0002t0001 | a0001c0001t0001g0107a0001c0002t0001g0105 | 2 | 264 | 0.0076 | -23 | c.137 others(42): Show |
COL21A1 | ENSG00000124749.18 | transcript | ENST00000244728.10 | protein_coding | 9/29 | chr6 | TogoVar | ||||||
| COL24A1_chr1_85724233_86161772 | 85813532 | CTTTTTTT others(16): Show |
C | intron_variant | MODIFIER | HG01934.hp1 HG01952.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038a0001c0001t0001g0043 | 2 | 238 | 0.0084 | -23 | c.395 others(42): Show |
COL24A1 | ENSG00000171502.15 | transcript | ENST00000370571.7 | protein_coding | 47/59 | chr1 | TogoVar | ||||||
| COL25A1_chr4_108803725_109307658 | 109084017 | AATAATCC others(16): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 1 | 130 | 0.0077 | -23 | c.368 others(42): Show |
COL25A1 | ENSG00000188517.17 | transcript | ENST00000399132.6 | protein_coding | 3/37 | chr4 | TogoVar | ||||||
| COL26A1_chr7_101357875_101564024 | 101366495 | TTTTTTTT others(16): Show |
T | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00280.hp2 others(44): Show |
a0001a0002a0003 | a0001c0001a0001c0005a0001c0008others(4): Show | a0001c0001t0002a0001c0001t0005a0001c0001t0009others(12): Show | a0001c0001t0002g0061a0001c0001t0002g0062a0001c0001t0002g0074others(44): Show | 47 | 174 | 0.2701 | -23 | c.158 others(40): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
| COL26A1_chr7_101357875_101564024 | 101475268 | TGTCCCTG others(16): Show |
T | intron_variant | MODIFIER | HG00558.hp1 HG00673.hp2 HG02055.hp2 others(16): Show |
a0001a0002a0003others(1): Show | a0001c0001a0001c0002a0001c0005others(6): Show | a0001c0001t0002a0001c0001t0008a0001c0002t0006others(9): Show | a0001c0001t0002g0151a0001c0001t0002g0154a0001c0001t0008g0169others(16): Show | 19 | 174 | 0.1092 | -23 | c.385 others(42): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar |