| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| CCDC186_chr10_114115862_114179203 | 114149782 | AAGGCAGG others(61): Show |
A | intron_variant | MODIFIER | HG00735.hp2 HG01884.hp2 HG01891.hp1 others(7): Show |
a0001a0002a0004 | a0001c0001a0002c0002a0004c0006 | a0001c0001t0002a0001c0001t0036a0002c0002t0013others(3): Show | a0001c0001t0002g0201a0001c0001t0002g0202a0001c0001t0002g0203others(7): Show | 10 | 278 | 0.0360 | -68 | c.888 others(85): Show |
CCDC186 | ENSG00000165813.20 | transcript | ENST00000369287.8 | protein_coding | 4/15 | chr10 | TogoVar | ||||||
| CCDC77_chr12_396644_447642 | 415436 | AATAATAT others(61): Show |
A | intron_variant | MODIFIER | HG03453.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0148 | 1 | 432 | 0.0023 | -68 | c.271 others(85): Show |
CCDC77 | ENSG00000120647.10 | transcript | ENST00000239830.9 | protein_coding | 4/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CCL17_chr16_57399767_57421063 | 57415213 | CTCCACCC others(61): Show |
C | intron_variant | MODIFIER | HG01256.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0105 | 1 | 388 | 0.0026 | -68 | c.188 others(81): Show |
CCL17 | ENSG00000102970.11 | transcript | ENST00000219244.9 | protein_coding | 3/3 | chr16 | TogoVar | ||||||
| CD200_chr3_112328156_112367812 | 112342306 | CTTTCTTC others(61): Show |
C | intron_variant | MODIFIER | HG01943.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0243 | 1 | 408 | 0.0025 | -68 | c.94+ others(83): Show |
CD200 | ENSG00000091972.18 | transcript | ENST00000315711.12 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CDC34_chr19_526760_547087 | 538015 | TTTAATGA others(61): Show |
T | intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0082 | 1 | 328 | 0.0031 | -68 | c.497 others(84): Show |
CDC34 | ENSG00000099804.9 | transcript | ENST00000215574.9 | protein_coding | 4/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CDC42BPB_chr14_102927380_103062549 | 102948247 | TCGGGGGT others(61): Show |
T | intron_variant | MODIFIER | HG00423.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0306 | 1 | 320 | 0.0031 | -68 | c.345 others(85): Show |
CDC42BPB | ENSG00000198752.11 | transcript | ENST00000361246.7 | protein_coding | 26/36 | chr14 | TogoVar | ||||||
| CDH15_chr16_89166748_89200492 | 89188768 | ATGCCCAC others(61): Show |
A | intron_variant | MODIFIER | HG00639.hp2 | a0001 | a0001c0011 | a0001c0011t0002 | a0001c0011t0002g0224 | 1 | 406 | 0.0025 | -68 | c.978 others(83): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | |||||
| CDH23_chr10_71391920_71820947 | 71751331 | CCCCTCAC others(61): Show |
C | intron_variant | MODIFIER | HG00639.hp1 HG00642.hp2 HG01069.hp1 others(21): Show |
a0002a0009a0018others(20): Show | a0002c0096a0009c0013a0018c0134others(21): Show | a0002c0096t0001a0009c0013t0016a0018c0134t0013others(21): Show | a0002c0096t0001g0193a0009c0013t0016g0157a0018c0134t0013g0006others(21): Show | 24 | 196 | 0.1225 | -68 | c.484 others(87): Show |
CDH23 | ENSG00000107736.22 | transcript | ENST00000224721.12 | protein_coding | 38/69 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | |||||
| CDKAL1_chr6_20529457_21237404 | 20756804 | TTTCCTTC others(61): Show |
T | intron_variant | MODIFIER | HG01109.hp2 HG02615.hp2 |
a0001 | a0001c0004a0001c0008 | a0001c0004t0018a0001c0008t0011 | a0001c0004t0018g0017a0001c0008t0011g0069 | 2 | 196 | 0.0102 | -68 | c.469 others(85): Show |
CDKAL1 | ENSG00000145996.11 | transcript | ENST00000274695.8 | protein_coding | 6/15 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | |||||
| CDKL4_chr2_39170646_39248970 | 39185329 | CATATGTA others(61): Show |
C | intron_variant | MODIFIER | HG02717.hp2 HG03225.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0017a0001c0001t0001g0052 | 2 | 290 | 0.0069 | -68 | c.736 others(83): Show |
CDKL4 | ENSG00000205111.10 | transcript | ENST00000451199.7 | protein_coding | 7/9 | chr2 | TogoVar | ||||||
| CECR2_chr22_17364460_17563151 | 17419500 | AGGAAGAG others(61): Show |
A | intron_variant | MODIFIER | HG01109.hp1 HG01192.hp2 HG01243.hp2 others(11): Show |
a0001a0002a0004 | a0001c0001a0001c0008a0001c0009others(2): Show | a0001c0001t0003a0001c0001t0006a0001c0001t0010others(10): Show | a0001c0001t0003g0049a0001c0001t0006g0319a0001c0001t0010g0040others(11): Show | 14 | 324 | 0.0432 | -68 | c.126 others(87): Show |
CECR2 | ENSG00000099954.19 | transcript | ENST00000262608.13 | protein_coding | 1/18 | chr22 | TogoVar | ||||||
| CELF1_chr11_47460937_47558132 | 47541725 | AGAACGAA others(61): Show |
A | intron_variant | MODIFIER | HG00280.hp1 HG00408.hp1 HG00438.hp2 others(58): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(6): Show | a0001c0001t0001g0018a0001c0001t0001g0022a0001c0001t0001g0027others(58): Show | 61 | 340 | 0.1794 | -68 | c.-15 others(89): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | ||||||
| CEMIP2_chr9_71678366_71773513 | 71728250 | TGTATATA others(61): Show |
T | intron_variant | MODIFIER | NA18941.hp1 NA18944.hp2 NA18962.hp1 others(3): Show |
a0005a0008 | a0005c0004a0008c0011 | a0005c0004t0011a0005c0004t0034a0008c0011t0015 | a0005c0004t0011g0017a0005c0004t0011g0022a0005c0004t0034g0019others(3): Show | 6 | 320 | 0.0188 | -68 | c.204 others(87): Show |
CEMIP2 | ENSG00000135048.14 | transcript | ENST00000377044.9 | protein_coding | 10/23 | chr9 | TogoVar | ||||||
| CETP_chr16_56956950_56988845 | 56957934 | TTGAACCC others(61): Show |
T | upstream_gene_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0062 | 2 | 462 | 0.0043 | -68 | c.-40 others(79): Show |
CETP | ENSG00000087237.12 | transcript | ENST00000200676.8 | protein_coding | 4015 | chr16 | TogoVar | ||||||
| CFAP298_chr21_32594354_32617377 | 32601006 | TGGCTACA others(61): Show |
T | 3_prime_UTR_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0041 | a0001c0002t0041g0215 | 1 | 416 | 0.0024 | -68 | c.*78 others(77): Show |
CFAP298 | ENSG00000159079.19 | transcript | ENST00000290155.8 | protein_coding | 7/7 | 789 | chr21 | TogoVar | |||||
| CFAP299_chr4_80330730_80968750 | 80390920 | CATATGTA others(61): Show |
C | intron_variant | MODIFIER | NA19091.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0063 | 1 | 96 | 0.0104 | -68 | c.242 others(87): Show |
CFAP299 | ENSG00000197826.13 | transcript | ENST00000358105.8 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | |||||
| CFAP54_chr12_96484577_96880555 | 96664688 | GGTATATA others(61): Show |
G | intron_variant | MODIFIER | HG00280.hp1 HG00323.hp2 HG00597.hp2 others(9): Show |
a0001a0006a0023others(1): Show | a0001c0001a0001c0086a0006c0010others(2): Show | a0001c0001t0001a0001c0086t0001a0006c0010t0001others(2): Show | a0001c0001t0001g0035a0001c0001t0001g0064a0001c0001t0001g0070others(9): Show | 12 | 268 | 0.0448 | -68 | c.556 others(85): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | chr12 | TogoVar | ||||||
| CFAP54_chr12_96484577_96880555 | 96664709 | ATATATCT others(61): Show |
A | intron_variant | MODIFIER | HG00609.hp1 HG00673.hp2 HG01099.hp2 others(13): Show |
a0003a0004a0034others(1): Show | a0003c0002a0004c0005a0034c0065others(1): Show | a0003c0002t0001a0004c0005t0001a0034c0065t0001others(1): Show | a0003c0002t0001g0210a0003c0002t0001g0220a0003c0002t0001g0224others(13): Show | 16 | 268 | 0.0597 | -68 | c.556 others(85): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CFAP54_chr12_96484577_96880555 | 96664746 | TATATATA others(61): Show |
T | intron_variant | MODIFIER | HG02451.hp1 | a0030 | a0030c0064 | a0030c0064t0001 | a0030c0064t0001g0209 | 1 | 268 | 0.0037 | -68 | c.556 others(85): Show |
CFAP54 | ENSG00000188596.11 | transcript | ENST00000524981.9 | protein_coding | 39/67 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | |||||
| CHRDL1_chrX_110668856_110800817 | 110689456 | ATCTATAT others(61): Show |
A | intron_variant | MODIFIER | HG01106.hp1 HG02145.hp1 HG02258.hp1 others(30): Show |
a0001a0003 | a0001c0002a0003c0004 | a0001c0002t0003a0001c0002t0004a0001c0002t0006others(6): Show | a0001c0002t0003g0001a0001c0002t0003g0004a0001c0002t0003g0018others(29): Show | 33 | 172 | 0.1919 | -68 | c.779 others(83): Show |
CHRDL1 | ENSG00000101938.15 | transcript | ENST00000372042.6 | protein_coding | 8/11 | chrX | TogoVar | ||||||
| CHRM2_chr7_136863652_137025213 | 136972729 | TGATGGTG others(61): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG01258.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 320 | 0.0063 | -68 | c.-12 others(89): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CHRM2_chr7_136863652_137025213 | 136973035 | CGATGGTG others(61): Show |
C | intron_variant | MODIFIER | HG00735.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0271 | 1 | 320 | 0.0031 | -68 | c.-12 others(89): Show |
CHRM2 | ENSG00000181072.12 | transcript | ENST00000680005.1 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| CHST8_chr19_33616953_33778506 | 33757387 | GAAGAAAG others(61): Show |
G | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 254 | 0.0039 | -68 | c.131 others(87): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CHST8_chr19_33616953_33778506 | 33757458 | GAAAGAAA others(61): Show |
G | intron_variant | MODIFIER | HG02280.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0143 | 1 | 254 | 0.0039 | -68 | c.131 others(87): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CHST8_chr19_33616953_33778506 | 33757470 | GAAAGAAA others(61): Show |
G | intron_variant | MODIFIER | HG02895.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0042 | 1 | 254 | 0.0039 | -68 | c.131 others(87): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | |||||
| CLDN1_chr3_190300707_190327446 | 190306844 | CGTAGGTT others(61): Show |
C | 3_prime_UTR_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0044 | a0001c0001t0044g0118 | 1 | 468 | 0.0021 | -68 | c.*13 others(79): Show |
CLDN1 | ENSG00000163347.6 | transcript | ENST00000295522.4 | protein_coding | 4/4 | 1365 | chr3 | TogoVar | |||||
| CLSTN2_chr3_139930185_140582397 | 140490012 | ATGTGTGT others(61): Show |
A | intron_variant | MODIFIER | HG01081.hp1 HG01081.hp2 NA19043.hp1 |
a0001a0002 | a0001c0001a0002c0002a0002c0004 | a0001c0001t0001a0002c0002t0028a0002c0004t0007 | a0001c0001t0001g0003a0002c0002t0028g0005a0002c0004t0007g0085 | 3 | 110 | 0.0273 | -68 | c.134 others(89): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 8/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | |||||
| CMKLR2_chr2_206170316_206218371 | 206172860 | AGGGAGAC others(61): Show |
A | downstream_gene_variant | MODIFIER | NA19077.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0137 | 1 | 322 | 0.0031 | -68 | c.*32 others(79): Show |
CMKLR2 | ENSG00000183671.13 | transcript | ENST00000621141.5 | protein_coding | 2455 | chr2 | TogoVar | ||||||
| CNN2_chr19_1021608_1044065 | 1034110 | CGGTGTCT others(61): Show |
C | intron_variant | MODIFIER | HG02647.hp2 HG03486.hp2 HG04199.hp1 |
a0001 | a0001c0001a0001c0003 | a0001c0001t0001a0001c0003t0003 | a0001c0001t0001g0260a0001c0003t0003g0176a0001c0003t0003g0181 | 3 | 390 | 0.0077 | -68 | c.390 others(85): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
| CNN2_chr19_1021608_1044065 | 1034672 | CGGTGTCT others(61): Show |
C | intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0053 | 1 | 390 | 0.0026 | -68 | c.391 others(85): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
| CNN2_chr19_1021608_1044065 | 1034742 | CGGTGTCT others(61): Show |
C | intron_variant | MODIFIER | HG00423.hp2 HG01243.hp2 HG01978.hp1 others(16): Show |
a0001 | a0001c0001a0001c0003 | a0001c0001t0002a0001c0001t0005a0001c0001t0014others(3): Show | a0001c0001t0002g0003a0001c0001t0002g0041a0001c0001t0002g0093others(11): Show | 19 | 390 | 0.0487 | -68 | c.391 others(85): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
| CNN2_chr19_1021608_1044065 | 1034918 | CGGTGTCT others(61): Show |
C | intron_variant | MODIFIER | HG00099.hp2 HG02135.hp2 HG02738.hp1 others(1): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0144a0001c0001t0001g0194a0001c0001t0001g0268others(1): Show | 4 | 390 | 0.0103 | -68 | c.391 others(85): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
| CNN2_chr19_1021608_1044065 | 1034988 | CGGTGTCT others(61): Show |
C | intron_variant | MODIFIER | NA18949.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0050 | 1 | 390 | 0.0026 | -68 | c.391 others(85): Show |
CNN2 | ENSG00000064666.15 | transcript | ENST00000263097.9 | protein_coding | 4/6 | chr19 | TogoVar | ||||||
| CNRIP1_chr2_68288010_68324949 | 68323861 | GTAGCTGG others(61): Show |
G | upstream_gene_variant | MODIFIER | HG01257.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0087 | 1 | 424 | 0.0024 | -68 | c.-45 others(79): Show |
CNRIP1 | ENSG00000119865.9 | transcript | ENST00000263655.4 | protein_coding | 3913 | chr2 | TogoVar | ||||||
| CNTNAP2_chr7_146111801_148425998 | 147775281 | ATAAATAT others(61): Show |
A | intron_variant | MODIFIER | HG02896.hp2 HG02897.hp2 NA18522.hp2 |
a0001 | a0001c0001a0001c0004 | a0001c0001t0007a0001c0004t0003 | a0001c0001t0007g0018a0001c0004t0003g0035a0001c0004t0003g0036 | 3 | 40 | 0.0750 | -68 | c.209 others(91): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | |||||
| COG1_chr17_73188055_73213507 | 73192830 | CCGCGCCC others(61): Show |
C | upstream_gene_variant | MODIFIER | HG01069.hp1 HG01123.hp2 HG01168.hp2 others(3): Show |
a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0033a0002c0001t0001g0047a0002c0001t0001g0114others(2): Show | 6 | 428 | 0.0140 | -68 | c.-23 others(77): Show |
COG1 | ENSG00000166685.13 | transcript | ENST00000299886.9 | protein_coding | 224 | chr17 | TogoVar | ||||||
| COG8_chr16_69321428_69344564 | 69325359 | TGCCGCTA others(61): Show |
T | downstream_gene_variant | MODIFIER | HG00099.hp2 HG00280.hp1 HG00544.hp2 others(101): Show |
a0001a0002a0003others(3): Show | a0001c0001a0001c0002a0001c0011others(6): Show | a0001c0001t0006a0001c0001t0010a0001c0001t0014others(29): Show | a0001c0001t0006g0013a0001c0001t0006g0030a0001c0001t0010g0018others(58): Show | 104 | 360 | 0.2889 | -68 | c.*37 others(79): Show |
COG8 | ENSG00000213380.16 | transcript | ENST00000306875.10 | protein_coding | 1068 | chr16 | TogoVar | ||||||
| COL18A1_chr21_45400165_45518720 | 45437556 | ACACACAG others(61): Show |
A | intron_variant | MODIFIER | NA21309.hp1 | a0018 | a0018c0095 | a0018c0095t0001 | a0018c0095t0001g0146 | 1 | 292 | 0.0034 | -68 | c.107 others(87): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 2/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL18A1_chr21_45400165_45518720 | 45486405 | GGGAGCCA others(61): Show |
G | intron_variant | MODIFIER | HG00099.hp2 HG00140.hp2 HG00438.hp1 others(42): Show |
a0001a0006a0013others(4): Show | a0001c0003a0001c0007a0001c0011others(12): Show | a0001c0003t0001a0001c0003t0003a0001c0007t0002others(14): Show | a0001c0003t0001g0005a0001c0003t0001g0043a0001c0003t0001g0048others(42): Show | 45 | 292 | 0.1541 | -68 | c.170 others(85): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 15/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COL26A1_chr7_101357875_101564024 | 101489663 | TCCTTCCT others(61): Show |
T | intron_variant | MODIFIER | HG01257.hp2 HG03130.hp2 HG03195.hp2 others(3): Show |
a0001a0002a0003 | a0001c0001a0002c0004a0002c0006others(2): Show | a0001c0001t0002a0001c0001t0005a0002c0004t0001others(3): Show | a0001c0001t0002g0154a0001c0001t0005g0079a0002c0004t0001g0171others(3): Show | 6 | 174 | 0.0345 | -68 | c.385 others(87): Show |
COL26A1 | ENSG00000160963.14 | transcript | ENST00000313669.12 | protein_coding | 3/12 | chr7 | TogoVar | ||||||
| COL4A2_chr13_110302284_110518209 | 110313545 | CGTCCACC others(61): Show |
C | intron_variant | MODIFIER | HG02451.hp2 HG02572.hp2 HG03453.hp2 |
a0001a0002 | a0001c0002a0002c0041a0002c0055 | a0001c0002t0029a0002c0041t0002a0002c0055t0016 | a0001c0002t0029g0204a0002c0041t0002g0369a0002c0055t0016g0250 | 3 | 372 | 0.0081 | -68 | c.99+ others(83): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| COL4A2_chr13_110302284_110518209 | 110313656 | GGCAGGCT others(61): Show |
G | intron_variant | MODIFIER | HG01346.hp1 HG01934.hp2 HG02258.hp2 others(5): Show |
a0001a0002a0004others(2): Show | a0001c0011a0001c0045a0001c0119others(5): Show | a0001c0011t0004a0001c0045t0027a0001c0119t0032others(5): Show | a0001c0011t0004g0207a0001c0045t0027g0205a0001c0119t0032g0005others(5): Show | 8 | 372 | 0.0215 | -68 | c.99+ others(83): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| COL4A2_chr13_110302284_110518209 | 110313724 | AGCAGGCT others(61): Show |
A | intron_variant | MODIFIER | HG03579.hp2 | a0003 | a0003c0068 | a0003c0068t0024 | a0003c0068t0024g0247 | 1 | 372 | 0.0027 | -68 | c.99+ others(83): Show |
COL4A2 | ENSG00000134871.19 | transcript | ENST00000360467.7 | protein_coding | 3/47 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | |||||
| COL5A1_chr9_134636803_134849843 | 134747646 | TACACATG others(61): Show |
T | intron_variant | MODIFIER | HG03471.hp1 | a0001 | a0001c0003 | a0001c0003t0010 | a0001c0003t0010g0259 | 1 | 272 | 0.0037 | -68 | c.149 others(87): Show |
COL5A1 | ENSG00000130635.17 | transcript | ENST00000371817.8 | protein_coding | 11/65 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | |||||
| COL6A1_chr21_45976770_46010048 | 45990026 | GGAGCCGG others(61): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG01074.hp1 HG01074.hp2 others(4): Show |
a0002a0020 | a0002c0002a0002c0008a0020c0013 | a0002c0002t0004a0002c0008t0004a0020c0013t0004 | a0002c0002t0004g0021a0002c0002t0004g0023a0002c0002t0004g0025others(4): Show | 7 | 128 | 0.0547 | -68 | c.931 others(83): Show |
COL6A1 | ENSG00000142156.16 | transcript | ENST00000361866.8 | protein_coding | 11/34 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | |||||
| COMT_chr22_19936772_19974975 | 19959793 | TCCCCATC others(61): Show |
T | intron_variant | MODIFIER | NA19075.hp2 | a0002 | a0002c0001 | a0002c0001t0001 | a0002c0001t0001g0076 | 1 | 426 | 0.0024 | -68 | c.-91 others(85): Show |
COMT | ENSG00000093010.15 | transcript | ENST00000361682.11 | protein_coding | 1/5 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | |||||
| COX8C_chr14_93342182_93353356 | 93348715 | ATACACAT others(61): Show |
A | downstream_gene_variant | MODIFIER | NA18942.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 427 | 0.0023 | -68 | c.*59 others(77): Show |
COX8C | ENSG00000187581.3 | transcript | ENST00000342144.3 | protein_coding | 360 | chr14 | TogoVar | ||||||
| CSGALNACT1_chr8_19399161_19762277 | 19479762 | GAAAAAAA others(61): Show |
G | intron_variant | MODIFIER | HG02809.hp1 HG02886.hp2 |
a0003 | a0003c0005 | a0003c0005t0004 | a0003c0005t0004g0094a0003c0005t0004g0184 | 2 | 238 | 0.0084 | -68 | c.635 others(87): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 3/8 | chr8 | TogoVar | ||||||
| CSGALNACT1_chr8_19399161_19762277 | 19666787 | GAAAGAAA others(61): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG02280.hp2 HG02615.hp2 others(8): Show |
a0001a0002a0003 | a0001c0002a0002c0003a0003c0005 | a0001c0002t0003a0001c0002t0004a0001c0002t0012others(8): Show | a0001c0002t0003g0098a0001c0002t0004g0095a0001c0002t0012g0175others(8): Show | 11 | 238 | 0.0462 | -68 | c.-39 others(89): Show |
CSGALNACT1 | ENSG00000147408.16 | transcript | ENST00000692225.2 | protein_coding | 1/8 | chr8 | TogoVar | ||||||
| CSMD1_chr8_2930361_4999914 | 4761844 | TATCTATC others(61): Show |
T | intron_variant | MODIFIER | HG03579.hp2 NA19043.hp1 |
a0001a0020 | a0001c0093a0020c0024 | a0001c0093t0009a0020c0024t0077 | a0001c0093t0009g0007a0020c0024t0077g0104 | 2 | 126 | 0.0159 | -68 | c.86- others(87): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 1/69 | chr8 | TogoVar |