| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CEP170B_chr14_104860268_104901747 | 104884742 | CGGGGGTG others(45): Show |
C | intron_variant | MODIFIER | HG02109.hp1 HG02109.hp2 HG02559.hp1 others(14): Show |
a0001a0004a0022others(1): Show | a0001c0001a0001c0014a0001c0054others(4): Show | a0001c0001t0001a0001c0001t0004a0001c0001t0026others(6): Show | a0001c0001t0001g0019a0001c0001t0001g0034a0001c0001t0001g0089others(12): Show | 17 | 328 | 0.0518 | -52 | c.177 others(69): Show |
CEP170B | ENSG00000099814.17 | transcript | ENST00000414716.8 | protein_coding | 9/18 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | |||||
| CFAP299_chr4_80330730_80968750 | 80800453 | AATATAAT others(45): Show |
A | intron_variant | MODIFIER | HG00423.hp1 HG00423.hp2 HG00639.hp2 others(30): Show |
a0001a0002a0003 | a0001c0001a0001c0003a0001c0004others(2): Show | a0001c0001t0001a0001c0001t0002a0001c0003t0001others(4): Show | a0001c0001t0001g0011a0001c0001t0001g0019a0001c0001t0001g0023others(30): Show | 33 | 96 | 0.3438 | -52 | c.334 others(71): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 3/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CFAP410_chr21_44323944_44344390 | 44335931 | ACTCAGCC others(45): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00140.hp2 HG00323.hp1 others(114): Show |
a0001a0002a0003 | a0001c0001a0001c0002a0002c0012others(2): Show | a0001c0001t0001a0001c0001t0005a0001c0001t0013others(8): Show | a0001c0001t0001g0004a0001c0001t0001g0005a0001c0001t0001g0006others(81): Show | 117 | 436 | 0.2684 | -52 | c.97- others(65): Show |
CFAP410 | ENSG00000160226.16 | transcript | ENST00000339818.9 | protein_coding | 2/6 | chr21 | TogoVar | ||||||
| CFAP54_chr12_96484577_96880555 | 96664762 | TATCTATA others(45): Show |
T | intron_variant | MODIFIER | NA21309.hp2 | a0032 | a0032c0070 | a0032c0070t0001 | a0032c0070t0001g0244 | 1 | 268 | 0.0037 | -52 | c.556 others(69): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CFD_chr19_854664_868641 | 866625 | TCCCATGT others(45): Show |
T | downstream_gene_variant | MODIFIER | HG02257.hp2 | a0001 | a0001c0001 | a0001c0001t0011 | a0001c0001t0011g0022 | 1 | 287 | 0.0035 | -52 | c.*33 others(63): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 2985 | chr19 | TogoVar | ||||||
| CFD_chr19_854664_868641 | 866632 | TCCTCCCC others(45): Show |
T | downstream_gene_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0004 | 1 | 287 | 0.0035 | -52 | c.*33 others(63): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 2992 | chr19 | TogoVar | ||||||
| CFD_chr19_854664_868641 | 866635 | TCCCCGTC others(45): Show |
T | downstream_gene_variant | MODIFIER | NA18959.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0005 | 1 | 287 | 0.0035 | -52 | c.*33 others(63): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 2995 | chr19 | TogoVar | ||||||
| CFD_chr19_854664_868641 | 866746 | ACCCGCCG others(45): Show |
A | downstream_gene_variant | MODIFIER | HG02896.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0055 | 1 | 287 | 0.0035 | -52 | c.*35 others(63): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 3106 | chr19 | TogoVar | ||||||
| CFD_chr19_854664_868641 | 866865 | ACCCCTCG others(45): Show |
A | downstream_gene_variant | MODIFIER | HG01978.hp1 | a0001 | a0001c0001 | a0001c0001t0010 | a0001c0001t0010g0022 | 1 | 287 | 0.0035 | -52 | c.*36 others(63): Show |
CFD | ENSG00000197766.9 | transcript | ENST00000327726.11 | protein_coding | 3225 | chr19 | TogoVar | ||||||
| CHCHD2_chr7_56096573_56111476 | 56110262 | CGACAAGA others(45): Show |
C | upstream_gene_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 442 | 0.0023 | -52 | c.-39 others(63): Show |
CHCHD2 | ENSG00000106153.13 | transcript | ENST00000395422.4 | protein_coding | 3787 | chr7 | TogoVar | ||||||
| CHN2_chr7_29189775_29519328 | 29268490 | AAATGCAC others(45): Show |
A | intron_variant | MODIFIER | HG01884.hp1 HG01891.hp1 HG02622.hp2 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0011a0001c0002t0002others(2): Show | a0001c0001t0001g0103a0001c0001t0011g0164a0001c0002t0002g0041others(5): Show | 8 | 232 | 0.0345 | -52 | c.49+ others(69): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CHN2_chr7_29189775_29519328 | 29273340 | TGTGTATA others(45): Show |
T | intron_variant | MODIFIER | HG02055.hp2 | a0003 | a0003c0007 | a0003c0007t0013 | a0003c0007t0013g0013 | 1 | 232 | 0.0043 | -52 | c.49+ others(69): Show |
CHN2 | ENSG00000106069.26 | transcript | ENST00000222792.11 | protein_coding | 1/12 | chr7 | TogoVar | ||||||
| CHRM3_chr1_239381568_239920450 | 239732508 | CTTAGATA others(45): Show |
C | intron_variant | MODIFIER | HG01433.hp2 HG01515.hp2 HG02258.hp2 others(3): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0005a0001c0001t0007a0001c0001t0017others(3): Show | a0001c0001t0005g0077a0001c0001t0007g0055a0001c0001t0017g0004others(3): Show | 6 | 116 | 0.0517 | -52 | c.-14 others(73): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CHRM3_chr1_239381568_239920450 | 239732716 | TTTAGATA others(45): Show |
T | intron_variant | MODIFIER | HG02258.hp2 | a0001 | a0001c0005 | a0001c0005t0048 | a0001c0005t0048g0081 | 1 | 116 | 0.0086 | -52 | c.-14 others(73): Show |
CHRM3 | ENSG00000133019.12 | transcript | ENST00000676153.1 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CHST8_chr19_33616953_33778506 | 33757478 | GAAAGAAA others(45): Show |
G | intron_variant | MODIFIER | HG01255.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0135 | 1 | 254 | 0.0039 | -52 | c.131 others(71): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CHST8_chr19_33616953_33778506 | 33757486 | GAAAGAAA others(45): Show |
G | intron_variant | MODIFIER | HG03139.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0054 | 1 | 254 | 0.0039 | -52 | c.131 others(71): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CLASP2_chr3_33491245_33723254 | 33708492 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG04204.hp2 | a0001 | a0001c0010 | a0001c0010t0001 | a0001c0010t0001g0003 | 1 | 278 | 0.0036 | -52 | c.195 others(69): Show |
CLASP2 | ENSG00000163539.19 | transcript | ENST00000682230.1 | protein_coding | 1/38 | chr3 | TogoVar | ||||||
| CLCN5_chrX_49917596_50104230 | 50055943 | CTGGGTTT others(45): Show |
C | intron_variant | MODIFIER | NA19058.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0060 | 1 | 175 | 0.0057 | -52 | c.163 others(71): Show |
CLCN5 | ENSG00000171365.17 | transcript | ENST00000376091.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chrX | TogoVar | |||||
| CLDN14_chr21_36455621_36485122 | 36482328 | AGATGGAT others(45): Show |
A | upstream_gene_variant | MODIFIER | HG03209.hp1 HG03471.hp2 HG03486.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0022 | 3 | 424 | 0.0071 | -52 | c.-29 others(63): Show |
CLDN14 | ENSG00000159261.12 | transcript | ENST00000399135.6 | protein_coding | 2207 | chr21 | TogoVar | ||||||
| CLIC5_chr6_45893456_46020860 | 46006093 | CATATATA others(45): Show |
C | intron_variant | MODIFIER | HG00438.hp1 NA18998.hp2 |
a0001a0004 | a0001c0001a0004c0008 | a0001c0001t0001a0004c0008t0019 | a0001c0001t0001g0032a0004c0008t0019g0033 | 2 | 340 | 0.0059 | -52 | c.63+ others(67): Show |
CLIC5 | ENSG00000112782.19 | transcript | ENST00000339561.12 | protein_coding | 1/5 | chr6 | TogoVar | ||||||
| CLMP_chr11_123064872_123200248 | 123118959 | TTCTTTCT others(45): Show |
T | intron_variant | MODIFIER | HG02647.hp1 HG02698.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0036 | a0001c0001t0002g0196a0001c0001t0036g0114 | 2 | 254 | 0.0079 | -52 | c.29- others(69): Show |
CLMP | ENSG00000166250.12 | transcript | ENST00000448775.4 | protein_coding | 1/6 | chr11 | TogoVar | ||||||
| CLN8_chr8_1758789_1791570 | 1763592 | CCCCCCGC others(45): Show |
C | upstream_gene_variant | MODIFIER | HG02559.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0009 | 1 | 413 | 0.0024 | -52 | c.-41 others(61): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 196 | chr8 | TogoVar | ||||||
| CLN8_chr8_1758789_1791570 | 1763596 | CCGCCGCG others(45): Show |
C | upstream_gene_variant | MODIFIER | HG02647.hp1 | a0001 | a0001c0001 | a0001c0001t0034 | a0001c0001t0034g0002 | 1 | 413 | 0.0024 | -52 | c.-41 others(61): Show |
CLN8 | ENSG00000182372.10 | transcript | ENST00000331222.6 | protein_coding | 192 | chr8 | TogoVar | ||||||
| CLPX_chr15_65143219_65190342 | 65146016 | TATAAATA others(45): Show |
T | downstream_gene_variant | MODIFIER | HG03195.hp1 NA18522.hp2 NA19240.hp1 |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0013 | a0001c0001t0006g0005a0001c0001t0013g0042 | 3 | 190 | 0.0158 | -52 | c.*47 others(63): Show |
CLPX | ENSG00000166855.9 | transcript | ENST00000300107.7 | protein_coding | 2202 | chr15 | TogoVar | ||||||
| CLUL1_chr18_591988_655182 | 618243 | GTCATCCT others(45): Show |
G | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0234 | 1 | 414 | 0.0024 | -52 | c.106 others(67): Show |
CLUL1 | ENSG00000079101.18 | transcript | ENST00000692774.1 | protein_coding | 3/9 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | |||||
| CMTM7_chr3_32386853_32460528 | 32393490 | CAGAAGCC others(45): Show |
C | intron_variant | MODIFIER | NA19075.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0318 | 1 | 368 | 0.0027 | -52 | c.159 others(69): Show |
CMTM7 | ENSG00000153551.14 | transcript | ENST00000334983.10 | protein_coding | 1/4 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CNOT4_chr7_135356795_135515102 | 135495686 | AAAAAAAA others(45): Show |
A | intron_variant | MODIFIER | HG00642.hp1 HG00733.hp2 HG00735.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0329a0001c0001t0001g0330a0001c0001t0001g0332others(14): Show | 17 | 362 | 0.0470 | -52 | c.-93 others(71): Show |
CNOT4 | ENSG00000080802.21 | transcript | ENST00000541284.6 | protein_coding | 1/11 | chr7 | TogoVar | ||||||
| CNST_chr1_246561456_246673595 | 246620043 | TCTACAGG others(45): Show |
T | intron_variant | MODIFIER | HG04184.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0281 | 1 | 320 | 0.0031 | -52 | c.380 others(69): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CNST_chr1_246561456_246673595 | 246620259 | TCTACAGG others(45): Show |
T | intron_variant | MODIFIER | HG02965.hp2 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0176 | 1 | 320 | 0.0031 | -52 | c.380 others(69): Show |
CNST | ENSG00000162852.14 | transcript | ENST00000366513.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | |||||
| CNTN5_chr11_99015949_100363885 | 99598282 | TTCTTTTC others(45): Show |
T | intron_variant | MODIFIER | HG00733.hp2 HG00735.hp1 HG00735.hp2 others(5): Show |
a0001a0002a0003others(3): Show | a0001c0001a0002c0002a0003c0003others(3): Show | a0001c0001t0004a0001c0001t0011a0002c0002t0022others(4): Show | a0001c0001t0004g0010a0001c0001t0004g0029a0001c0001t0011g0062others(5): Show | 8 | 66 | 0.1212 | -52 | c.55+ others(69): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | |||||
| CNTN6_chr3_1088024_1409217 | 1245231 | TATATACA others(45): Show |
T | intron_variant | MODIFIER | HG02257.hp1 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0185 | 1 | 232 | 0.0043 | -52 | c.358 others(71): Show |
CNTN6 | ENSG00000134115.13 | transcript | ENST00000446702.7 | protein_coding | 4/22 | chr3 | TogoVar | ||||||
| CNTNAP2_chr7_146111801_148425998 | 146151646 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0010 | a0001c0010t0002 | a0001c0010t0002g0014 | 1 | 40 | 0.0250 | -52 | c.97+ others(69): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 1/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CNTNAP4_chr16_76272401_76565757 | 76397938 | TTATATAC others(45): Show |
T | intron_variant | MODIFIER | HG02630.hp2 HG03098.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0010a0003c0003t0007 | a0001c0001t0010g0240a0003c0003t0007g0260 | 2 | 274 | 0.0073 | -52 | c.391 others(71): Show |
CNTNAP4 | ENSG00000152910.19 | transcript | ENST00000611870.5 | protein_coding | 3/23 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124713285 | CTTTCTTT others(45): Show |
C | intron_variant | MODIFIER | HG03139.hp1 | a0001 | a0001c0002 | a0001c0002t0005 | a0001c0002t0005g0045 | 1 | 64 | 0.0156 | -52 | c.207 others(73): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| CNTNAP5_chr2_124020287_124926219 | 124860414 | CCCTTCCT others(45): Show |
C | intron_variant | MODIFIER | HG01069.hp1 HG02257.hp2 HG02698.hp1 others(3): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0001t0005a0001c0002t0001others(1): Show | a0001c0001t0002g0022a0001c0001t0002g0023a0001c0001t0002g0027others(3): Show | 6 | 64 | 0.0938 | -52 | c.321 others(71): Show |
CNTNAP5 | ENSG00000155052.15 | transcript | ENST00000682447.1 | protein_coding | 19/23 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| COG1_chr17_73188055_73213507 | 73192818 | CCGCGCCC others(45): Show |
C | upstream_gene_variant | MODIFIER | HG03017.hp2 HG03688.hp1 |
a0003 | a0003c0005 | a0003c0005t0001 | a0003c0005t0001g0018a0003c0005t0001g0097 | 2 | 428 | 0.0047 | -52 | c.-25 others(61): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 236 | chr17 | TogoVar | ||||||
| COG3_chr13_45459939_45541701 | 45513217 | ATATATAT others(45): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG02015.hp1 |
a0002 | a0002c0005 | a0002c0005t0003 | a0002c0005t0003g0158a0002c0005t0003g0159 | 2 | 342 | 0.0059 | -52 | c.180 others(71): Show |
COG3 | ENSG00000136152.15 | transcript | ENST00000349995.10 | protein_coding | 16/22 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| COL20A1_chr20_63288186_63339806 | 63314805 | CCCCCAGG others(45): Show |
C | intron_variant | MODIFIER | HG00323.hp2 HG00741.hp2 HG01106.hp2 others(16): Show |
a0003a0008a0011others(4): Show | a0003c0003a0003c0043a0008c0012others(5): Show | a0003c0003t0006a0003c0003t0009a0003c0003t0044others(7): Show | a0003c0003t0006g0008a0003c0003t0006g0035a0003c0003t0006g0036others(15): Show | 19 | 290 | 0.0655 | -52 | c.248 others(69): Show |
COL20A1 | ENSG00000101203.17 | transcript | ENST00000358894.11 | protein_coding | 19/35 | INFO_REALIGN_3_PRIME | chr20 | TogoVar | |||||
| COL23A1_chr5_178232618_178595393 | 178301973 | GGAGCACA others(45): Show |
G | intron_variant | MODIFIER | HG00280.hp2 HG00639.hp1 HG00738.hp1 others(54): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0004a0002c0002others(9): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0004others(21): Show | a0001c0001t0002g0056a0001c0001t0002g0083a0001c0001t0002g0153others(54): Show | 57 | 236 | 0.2415 | -52 | c.406 others(69): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 3/28 | chr5 | TogoVar | ||||||
| COL23A1_chr5_178232618_178595393 | 178547606 | CACACCCC others(45): Show |
C | intron_variant | MODIFIER | HG01517.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0064 | 1 | 236 | 0.0042 | -52 | c.361 others(71): Show |
COL23A1 | ENSG00000050767.18 | transcript | ENST00000390654.8 | protein_coding | 2/28 | chr5 | TogoVar | ||||||
| COL26A1_chr7_101357875_101564024 | 101489662 | TTCCTTCC others(45): Show |
T | intron_variant | MODIFIER | HG03041.hp1 HG03130.hp1 |
a0001 | a0001c0001a0001c0005 | a0001c0001t0011a0001c0005t0023 | a0001c0001t0011g0108a0001c0005t0023g0116 | 2 | 174 | 0.0115 | -52 | c.385 others(71): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| COL3A1_chr2_188969373_189017746 | 188980353 | GAATTCTA others(45): Show |
G | intron_variant | MODIFIER | HG00140.hp2 HG00280.hp1 HG00408.hp1 others(135): Show |
a0001a0002a0003others(6): Show | a0001c0001a0002c0002a0003c0005others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0011others(9): Show | a0001c0001t0001g0001a0001c0001t0001g0002a0001c0001t0001g0006others(118): Show | 138 | 376 | 0.3670 | -52 | c.80- others(67): Show |
COL3A1 | ENSG00000168542.17 | transcript | ENST00000304636.9 | protein_coding | 1/50 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | |||||
| COL4A1_chr13_110143963_110312157 | 110252416 | GTATATGT others(45): Show |
G | intron_variant | MODIFIER | NA19043.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0013 | 1 | 344 | 0.0029 | -52 | c.85- others(67): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | ||||||
| COL4A4_chr2_226997714_227169205 | 227041779 | GAAGGAAG others(45): Show |
G | intron_variant | MODIFIER | HG02071.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0100 | 1 | 284 | 0.0035 | -52 | c.350 others(69): Show |
COL4A4 | ENSG00000081052.14 | transcript | ENST00000396625.5 | protein_coding | 37/47 | chr2 | TogoVar | ||||||
| COL5A1_chr9_134636803_134849843 | 134792850 | CGCACACG others(45): Show |
C | intron_variant | MODIFIER | NA20805.hp2 | a0001 | a0001c0003 | a0001c0003t0036 | a0001c0003t0036g0051 | 1 | 272 | 0.0037 | -52 | c.270 others(71): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 32/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| COL5A1_chr9_134636803_134849843 | 134792858 | TGTGTGTG others(45): Show |
T | intron_variant | MODIFIER | HG01891.hp2 HG02055.hp1 HG02155.hp2 others(16): Show |
a0001a0005a0014 | a0001c0001a0001c0002a0001c0003others(6): Show | a0001c0001t0001a0001c0001t0003a0001c0001t0012others(14): Show | a0001c0001t0001g0033a0001c0001t0003g0133a0001c0001t0003g0146others(16): Show | 19 | 272 | 0.0699 | -52 | c.270 others(71): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 32/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| COL6A1_chr21_45976770_46010048 | 45977775 | GAGGAGGG others(45): Show |
G | upstream_gene_variant | MODIFIER | HG01515.hp2 | a0010 | a0010c0016 | a0010c0016t0014 | a0010c0016t0014g0090 | 1 | 128 | 0.0078 | -52 | c.-40 others(63): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3994 | chr21 | TogoVar | ||||||
| COL6A1_chr21_45976770_46010048 | 45977805 | GAGAGAGG others(45): Show |
G | upstream_gene_variant | MODIFIER | HG01934.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0007 | 1 | 128 | 0.0078 | -52 | c.-40 others(63): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3964 | chr21 | TogoVar | ||||||
| COL6A1_chr21_45976770_46010048 | 45977807 | GAGAGGAG others(45): Show |
G | upstream_gene_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00423.hp2 others(43): Show |
a0001a0002a0003others(4): Show | a0001c0001a0001c0003a0001c0017others(10): Show | a0001c0001t0002a0001c0001t0003a0001c0001t0016others(16): Show | a0001c0001t0002g0004a0001c0001t0002g0009a0001c0001t0002g0079others(43): Show | 46 | 128 | 0.3594 | -52 | c.-40 others(63): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 3962 | chr21 | TogoVar | ||||||
| CPN2_chr3_194334768_194356328 | 194347678 | TCAGCCCA others(45): Show |
T | intron_variant | MODIFIER | NA18994.hp2 | a0004 | a0004c0003 | a0004c0003t0002 | a0004c0003t0002g0186 | 1 | 440 | 0.0023 | -52 | c.-4+ others(67): Show |
CPN2 | ENSG00000178772.7 | transcript | ENST00000323830.4 | protein_coding | 1/1 | chr3 | TogoVar |