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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
BRSK2_chr11_1384934_1467689 | 1435310 | GGGGGTCT others(79): Show |
G | intron_variant | MODIFIER | NA18953.hp2 | a0014 | a0014c0011 | a0014c0011t0004 | a0014c0011t0004g0065 | 1 | 360 | 0.0028 | -86 | c.92- others(99): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1435397 | GGGGGTCT others(79): Show |
G | intron_variant | MODIFIER | NA19090.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0060 | 1 | 360 | 0.0028 | -86 | c.92- others(99): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BRSK2_chr11_1384934_1467689 | 1435415 | GGGGTGCC others(79): Show |
G | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0013 | a0001c0001t0013g0022 | 1 | 360 | 0.0028 | -86 | c.92- others(99): Show |
BRSK2 | ENSG00000174672.16 | transcript | ENST00000528841.6 | protein_coding | 1/19 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
BTBD19_chr1_44803523_44820585 | 44816556 | ATGTGTGT others(79): Show |
A | downstream_gene_variant | MODIFIER | NA19076.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0074 | 1 | 436 | 0.0023 | -86 | c.*27 others(97): Show |
BTBD19 | ENSG00000222009.9 | transcript | ENST00000450269.6 | protein_coding | 972 | chr1 | TogoVar | |||||||
C2CD3_chr11_74007718_74176002 | 74117030 | GTATATAT others(79): Show |
G | intron_variant | MODIFIER | HG02886.hp2 NA20300.hp2 |
a0003a0036 | a0003c0016a0036c0022 | a0003c0016t0001a0036c0022t0001 | a0003c0016t0001g0242 a0036c0022t0001g0295 |
2 | 318 | 0.0063 | -86 | c.152 others(105): Show |
C2CD3 | ENSG00000168014.18 | transcript | ENST00000334126.12 | protein_coding | 9/32 | chr11 | TogoVar | |||||||
CA14_chr1_150252774_150270078 | 150259778 | CCTCACCC others(79): Show |
C | intron_variant | MODIFIER | NA20905.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0051 | 1 | 416 | 0.0024 | -86 | c.56- others(99): Show |
CA14 | ENSG00000118298.12 | transcript | ENST00000369111.9 | protein_coding | 1/10 | chr1 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49318483 | AGGGAAAG others(79): Show |
A | intron_variant | MODIFIER | NA18960.hp1 NA18983.hp2 NA19005.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0002a0001c0002t0002 | a0001c0001t0002g0227 a0001c0002t0002g0080 a0001c0002t0002g0122 others(1): Show |
4 | 324 | 0.0124 | -86 | c.835 others(103): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
CAB39L_chr13_49303650_49449064 | 49318495 | AGGGAAAG others(79): Show |
A | intron_variant | MODIFIER | HG02145.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0293 | 1 | 324 | 0.0031 | -86 | c.835 others(103): Show |
CAB39L | ENSG00000102547.19 | transcript | ENST00000409308.6 | protein_coding | 10/10 | chr13 | TogoVar | |||||||
CAMKMT_chr2_44356947_44777592 | 44409097 | ATATATAT others(79): Show |
A | intron_variant | MODIFIER | HG00738.hp2 HG01884.hp1 HG02896.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0002t0001others(2): Show | a0001c0001t0001g0108 a0001c0001t0001g0115 a0001c0001t0002g0109 others(5): Show |
8 | 198 | 0.0404 | -86 | c.376 others(105): Show |
CAMKMT | ENSG00000143919.16 | transcript | ENST00000378494.8 | protein_coding | 3/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CANT1_chr17_78986716_79014764 | 79004411 | AGGGGAGT others(79): Show |
A | intron_variant | MODIFIER | HG02056.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0100 | 1 | 394 | 0.0025 | -86 | c.-14 others(105): Show |
CANT1 | ENSG00000171302.17 | transcript | ENST00000392446.10 | protein_coding | 1/4 | chr17 | TogoVar | |||||||
CAPZA1_chr1_112614832_112676616 | 112640181 | GGGAGGTG others(79): Show |
G | intron_variant | MODIFIER | HG01884.hp2 HG03098.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0007 | a0001c0001t0003g0020 a0001c0001t0007g0019 |
2 | 368 | 0.0054 | -86 | c.40- others(101): Show |
CAPZA1 | ENSG00000116489.13 | transcript | ENST00000263168.4 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
CBFA2T3_chr16_88869858_88982207 | 88934169 | CGGCGAGA others(79): Show |
C | intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0001 | a0001c0001t0025 | a0001c0001t0025g0099 | 1 | 284 | 0.0035 | -86 | c.152 others(105): Show |
CBFA2T3 | ENSG00000129993.15 | transcript | ENST00000268679.9 | protein_coding | 1/11 | chr16 | TogoVar | |||||||
CCDC171_chr9_15548043_15979037 | 15602582 | ATTGGTGT others(79): Show |
A | intron_variant | MODIFIER | HG00140.hp1 HG00323.hp1 HG00423.hp1 others(149): Show |
a0001a0002a0003others(18): Show | a0001c0001a0002c0002a0002c0013others(20): Show | a0001c0001t0010a0002c0002t0001a0002c0002t0002others(37): Show | a0001c0001t0010g0217 a0001c0001t0010g0218 a0001c0001t0010g0219 others(149): Show |
152 | 266 | 0.5714 | -86 | c.675 others(103): Show |
CCDC171 | ENSG00000164989.17 | transcript | ENST00000380701.8 | protein_coding | 6/25 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
CCL17_chr16_57399767_57421063 | 57403260 | AATATATA others(79): Show |
A | upstream_gene_variant | MODIFIER | HG03130.hp1 HG03209.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 2 | 388 | 0.0052 | -86 | c.-16 others(97): Show |
CCL17 | ENSG00000102970.11 | transcript | ENST00000219244.9 | protein_coding | 1506 | chr16 | TogoVar | |||||||
CD163L1_chr12_7349960_7449153 | 7421001 | ATATATAT others(79): Show |
A | intron_variant | MODIFIER | HG00408.hp1 HG00423.hp1 HG00673.hp1 others(75): Show |
a0002a0003a0012others(2): Show | a0002c0003a0002c0032a0003c0005others(3): Show | a0002c0003t0001a0002c0003t0002a0002c0003t0003others(7): Show | a0002c0003t0001g0005 a0002c0003t0001g0007 a0002c0003t0001g0022 others(72): Show |
78 | 384 | 0.2031 | -86 | c.766 others(105): Show |
CD163L1 | ENSG00000177675.9 | transcript | ENST00000313599.8 | protein_coding | 4/19 | chr12 | TogoVar | |||||||
CD164L2_chr1_27374176_27388333 | 27386120 | CGTGAGCC others(79): Show |
C | upstream_gene_variant | MODIFIER | HG02615.hp2 HG03540.hp2 |
a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0017 | 2 | 354 | 0.0057 | -86 | c.-29 others(97): Show |
CD164L2 | ENSG00000174950.11 | transcript | ENST00000374030.3 | protein_coding | 2788 | chr1 | TogoVar | |||||||
CDH15_chr16_89166748_89200492 | 89189197 | CCATACAC others(79): Show |
C | intron_variant | MODIFIER | HG01943.hp2 | a0004 | a0004c0005 | a0004c0005t0001 | a0004c0005t0001g0267 | 1 | 406 | 0.0025 | -86 | c.978 others(101): Show |
CDH15 | ENSG00000129910.8 | transcript | ENST00000289746.3 | protein_coding | 7/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CDH18_chr5_19466296_19993200 | 19849629 | TATATATA others(79): Show |
T | intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0011 | 1 | 138 | 0.0073 | -86 | c.-25 others(107): Show |
CDH18 | ENSG00000145526.12 | transcript | ENST00000382275.6 | protein_coding | 2/12 | chr5 | TogoVar | |||||||
CELF1_chr11_47460937_47558132 | 47541728 | ACGAAAGA others(79): Show |
A | intron_variant | MODIFIER | HG01346.hp2 HG01358.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0032 a0001c0001t0003g0033 |
2 | 340 | 0.0059 | -86 | c.-15 others(107): Show |
CELF1 | ENSG00000149187.19 | transcript | ENST00000687097.1 | protein_coding | 1/14 | chr11 | TogoVar | |||||||
CHCHD6_chr3_126699240_126965420 | 126862734 | CTCCTCCA others(79): Show |
C | intron_variant | MODIFIER | HG03491.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0090 | 1 | 216 | 0.0046 | -86 | c.495 others(105): Show |
CHCHD6 | ENSG00000159685.11 | transcript | ENST00000290913.8 | protein_coding | 5/7 | chr3 | TogoVar | |||||||
CHD5_chr1_6096787_6185321 | 6149960 | GAATGGAT others(79): Show |
G | intron_variant | MODIFIER | HG02602.hp2 HG04204.hp1 |
a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0135 a0001c0001t0003g0176 |
2 | 320 | 0.0063 | -86 | c.995 others(101): Show |
CHD5 | ENSG00000116254.18 | transcript | ENST00000262450.8 | protein_coding | 7/41 | chr1 | TogoVar | |||||||
CHST8_chr19_33616953_33778506 | 33757418 | GAAAGAAA others(79): Show |
G | intron_variant | MODIFIER | HG00735.hp1 HG01255.hp2 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0044 a0001c0001t0003g0137 |
2 | 254 | 0.0079 | -86 | c.131 others(105): Show |
CHST8 | ENSG00000124302.13 | transcript | ENST00000650847.1 | protein_coding | 3/4 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
CLPX_chr15_65143219_65190342 | 65145940 | ATATATAA others(79): Show |
A | downstream_gene_variant | MODIFIER | HG01256.hp2 HG01258.hp2 |
a0001 | a0001c0001 | a0001c0001t0025a0001c0001t0026 | a0001c0001t0025g0168 a0001c0001t0026g0167 |
2 | 190 | 0.0105 | -86 | c.*47 others(97): Show |
CLPX | ENSG00000166855.9 | transcript | ENST00000300107.7 | protein_coding | 2278 | chr15 | TogoVar | |||||||
CLPX_chr15_65143219_65190342 | 65145984 | AATATATA others(79): Show |
A | downstream_gene_variant | MODIFIER | HG02647.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0118 | 1 | 190 | 0.0053 | -86 | c.*47 others(97): Show |
CLPX | ENSG00000166855.9 | transcript | ENST00000300107.7 | protein_coding | 2234 | chr15 | TogoVar | |||||||
CLPX_chr15_65143219_65190342 | 65146008 | AATATATA others(79): Show |
A | downstream_gene_variant | MODIFIER | HG00099.hp1 HG00099.hp2 HG00140.hp1 others(82): Show |
a0001a0002 | a0001c0001a0002c0003 | a0001c0001t0001a0001c0001t0010a0001c0001t0011others(4): Show | a0001c0001t0001g0001 a0001c0001t0001g0002 a0001c0001t0001g0003 others(74): Show |
85 | 190 | 0.4474 | -86 | c.*47 others(97): Show |
CLPX | ENSG00000166855.9 | transcript | ENST00000300107.7 | protein_coding | 2210 | chr15 | TogoVar | |||||||
CLPX_chr15_65143219_65190342 | 65146020 | AATATATA others(79): Show |
A | downstream_gene_variant | MODIFIER | HG02257.hp1 HG02922.hp1 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0003a0001c0001t0004 | a0001c0001t0003g0021 a0001c0001t0004g0028 a0001c0001t0004g0029 |
3 | 190 | 0.0158 | -86 | c.*47 others(97): Show |
CLPX | ENSG00000166855.9 | transcript | ENST00000300107.7 | protein_coding | 2198 | chr15 | TogoVar | |||||||
CLSTN2_chr3_139930185_140582397 | 140419709 | ATATGTAT others(79): Show |
A | intron_variant | MODIFIER | HG03098.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0045 | 1 | 110 | 0.0091 | -86 | c.638 others(103): Show |
CLSTN2 | ENSG00000158258.16 | transcript | ENST00000458420.7 | protein_coding | 4/16 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
CNOT1_chr16_58514951_58634826 | 58579721 | CGCGCTCT others(79): Show |
C | intron_variant | MODIFIER | NA18992.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0227 | 1 | 308 | 0.0033 | -86 | c.134 others(103): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 12/48 | chr16 | TogoVar | |||||||
CNOT1_chr16_58514951_58634826 | 58581046 | AAAACACC others(79): Show |
A | intron_variant | MODIFIER | HG01517.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0195 | 1 | 308 | 0.0033 | -86 | c.121 others(103): Show |
CNOT1 | ENSG00000125107.19 | transcript | ENST00000317147.10 | protein_coding | 11/48 | chr16 | TogoVar | |||||||
CNTNAP2_chr7_146111801_148425998 | 147775301 | ATATTTAT others(79): Show |
A | intron_variant | MODIFIER | NA19030.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0038 | 1 | 40 | 0.0250 | -86 | c.209 others(109): Show |
CNTNAP2 | ENSG00000174469.23 | transcript | ENST00000361727.8 | protein_coding | 13/23 | INFO_REALIGN_3_PRIME | chr7 | TogoVar | ||||||
COBL_chr7_51011212_51321809 | 51288781 | TTTAGAAA others(79): Show |
T | intron_variant | MODIFIER | NA18980.hp1 NA19086.hp2 |
a0002 | a0002c0002 | a0002c0002t0001a0002c0002t0002 | a0002c0002t0001g0136 a0002c0002t0002g0159 |
2 | 230 | 0.0087 | -86 | c.41+ others(103): Show |
COBL | ENSG00000106078.19 | transcript | ENST00000265136.12 | protein_coding | 1/12 | chr7 | TogoVar | |||||||
COL18A1_chr21_45400165_45518720 | 45501715 | CCTCTGCA others(79): Show |
C | intron_variant | MODIFIER | HG00099.hp1 HG00323.hp1 HG01255.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002a0001c0013 | a0001c0001t0001a0001c0002t0002a0001c0013t0002 | a0001c0001t0001g0191 a0001c0002t0002g0074 a0001c0002t0002g0102 others(1): Show |
4 | 292 | 0.0137 | -86 | c.268 others(105): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45501787 | CAGCCGGT others(79): Show |
C | intron_variant | MODIFIER | HG03831.hp2 NA18952.hp2 NA18995.hp2 |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0002t0002a0001c0004t0001 | a0001c0001t0001g0103 a0001c0002t0002g0283 a0001c0004t0001g0225 |
3 | 292 | 0.0103 | -86 | c.268 others(105): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | INFO_REALIGN_3_PRIME | chr21 | TogoVar | ||||||
COL18A1_chr21_45400165_45518720 | 45501998 | CTCCACAG others(79): Show |
C | intron_variant | MODIFIER | HG02145.hp1 HG02615.hp1 HG03486.hp1 others(1): Show |
a0001a0002a0037 | a0001c0015a0001c0039a0002c0012others(1): Show | a0001c0015t0003a0001c0039t0001a0002c0012t0004others(1): Show | a0001c0015t0003g0284 a0001c0039t0001g0155 a0002c0012t0004g0049 others(1): Show |
4 | 292 | 0.0137 | -86 | c.268 others(105): Show |
COL18A1 | ENSG00000182871.16 | transcript | ENST00000651438.1 | protein_coding | 32/41 | chr21 | TogoVar | |||||||
COL4A3_chr2_227159624_227319792 | 227203475 | GTATACAT others(79): Show |
G | intron_variant | MODIFIER | HG03453.hp2 | a0012 | a0012c0022 | a0012c0022t0001 | a0012c0022t0001g0069 | 1 | 344 | 0.0029 | -86 | c.88- others(103): Show |
COL4A3 | ENSG00000169031.21 | transcript | ENST00000396578.8 | protein_coding | 1/51 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
COLEC11_chr2_3590112_3649644 | 3615873 | GGACGCGG others(79): Show |
G | intron_variant | MODIFIER | HG01169.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0244 | 1 | 378 | 0.0027 | -86 | c.202 others(103): Show |
COLEC11 | ENSG00000118004.18 | transcript | ENST00000349077.9 | protein_coding | 3/6 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CPSF2_chr14_92116969_92177145 | 92173319 | ACATATAT others(79): Show |
A | downstream_gene_variant | MODIFIER | HG03490.hp1 | a0001 | a0001c0001 | a0001c0001t0048 | a0001c0001t0048g0113 | 1 | 388 | 0.0026 | -86 | c.*11 others(99): Show |
CPSF2 | ENSG00000165934.13 | transcript | ENST00000298875.9 | protein_coding | 1175 | chr14 | TogoVar | |||||||
CRELD2_chr22_49913634_49932537 | 49926678 | CCCCCCAC others(79): Show |
C | intron_variant | MODIFIER | HG00741.hp1 HG03209.hp1 NA18940.hp2 others(1): Show |
a0002a0004 | a0002c0002a0004c0006 | a0002c0002t0001a0004c0006t0004 | a0002c0002t0001g0133 a0002c0002t0001g0136 a0002c0002t0001g0138 others(1): Show |
4 | 324 | 0.0124 | -86 | c.101 others(103): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRELD2_chr22_49913634_49932537 | 49926711 | CCCCCCCT others(79): Show |
C | intron_variant | MODIFIER | NA18966.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0139 | 1 | 324 | 0.0031 | -86 | c.101 others(103): Show |
CRELD2 | ENSG00000184164.15 | transcript | ENST00000328268.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
CRIM1_chr2_36350778_36556135 | 36351883 | TGTGCAAC others(79): Show |
T | upstream_gene_variant | MODIFIER | HG00140.hp1 | a0001 | a0001c0002 | a0001c0002t0014 | a0001c0002t0014g0027 | 1 | 324 | 0.0031 | -86 | c.-44 others(97): Show |
CRIM1 | ENSG00000150938.10 | transcript | ENST00000280527.7 | protein_coding | 3894 | chr2 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240924412 | CCCCACAC others(79): Show |
C | intron_variant | MODIFIER | NA18977.hp1 | a0010 | a0010c0009 | a0010c0009t0001 | a0010c0009t0001g0101 | 1 | 350 | 0.0029 | -86 | c.489 others(103): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
CSMD1_chr8_2930361_4999914 | 3558571 | GCAATGAT others(79): Show |
G | intron_variant | MODIFIER | HG01074.hp2 | a0003 | a0003c0056 | a0003c0056t0062 | a0003c0056t0062g0072 | 1 | 126 | 0.0079 | -86 | c.134 others(107): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 10/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3795891 | ACAGATAT others(79): Show |
A | intron_variant | MODIFIER | HG02257.hp1 | a0008 | a0008c0088 | a0008c0088t0076 | a0008c0088t0076g0057 | 1 | 126 | 0.0079 | -86 | c.819 others(105): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 3838624 | TTAATATA others(79): Show |
T | intron_variant | MODIFIER | HG01255.hp1 HG01934.hp2 HG02056.hp2 others(1): Show |
a0001a0002a0003 | a0001c0071a0001c0090a0002c0031others(1): Show | a0001c0071t0069a0001c0090t0001a0002c0031t0015others(1): Show | a0001c0071t0069g0115 a0001c0090t0001g0027 a0002c0031t0015g0001 others(1): Show |
4 | 126 | 0.0318 | -86 | c.819 others(105): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 5/69 | chr8 | TogoVar | |||||||
CSMD1_chr8_2930361_4999914 | 4295232 | ATATGCAC others(79): Show |
A | intron_variant | MODIFIER | HG00099.hp1 HG01074.hp2 |
a0003a0009 | a0003c0056a0009c0097 | a0003c0056t0062a0009c0097t0018 | a0003c0056t0062g0072 a0009c0097t0018g0089 |
2 | 126 | 0.0159 | -86 | c.415 others(107): Show |
CSMD1 | ENSG00000183117.20 | transcript | ENST00000635120.2 | protein_coding | 3/69 | chr8 | TogoVar | |||||||
CSNK1A1_chr5_149487982_149556439 | 149542589 | AATTTATA others(79): Show |
A | intron_variant | MODIFIER | NA18941.hp2 NA18944.hp2 NA18968.hp1 others(5): Show |
a0001 | a0001c0001 | a0001c0001t0006a0001c0001t0007a0001c0001t0020others(1): Show | a0001c0001t0006g0182 a0001c0001t0006g0183 a0001c0001t0006g0184 others(5): Show |
8 | 390 | 0.0205 | -86 | c.230 others(103): Show |
CSNK1A1 | ENSG00000113712.19 | transcript | ENST00000377843.8 | protein_coding | 2/9 | chr5 | TogoVar | |||||||
D2HGDH_chr2_241729630_241773811 | 241760089 | ATGGGTGG others(79): Show |
A | intron_variant | MODIFIER | HG01884.hp2 HG02976.hp1 NA19030.hp1 |
a0002a0003a0008 | a0002c0002a0003c0003a0008c0011 | a0002c0002t0007a0003c0003t0021a0008c0011t0021 | a0002c0002t0007g0131 a0003c0003t0021g0358 a0008c0011t0021g0035 |
3 | 412 | 0.0073 | -86 | c.130 others(105): Show |
D2HGDH | ENSG00000180902.18 | transcript | ENST00000321264.9 | protein_coding | 9/9 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DAB2IP_chr9_121646634_121790530 | 121777677 | CATTCCAA others(79): Show |
C | intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0061 | 1 | 224 | 0.0045 | -86 | c.331 others(105): Show |
DAB2IP | ENSG00000136848.19 | transcript | ENST00000408936.8 | protein_coding | 14/15 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
DCAF10_chr9_37795797_37872664 | 37797877 | ATTTGCTT others(79): Show |
A | upstream_gene_variant | MODIFIER | HG01928.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0185 | 1 | 356 | 0.0028 | -86 | c.-29 others(97): Show |
DCAF10 | ENSG00000122741.16 | transcript | ENST00000377724.8 | protein_coding | 2919 | chr9 | TogoVar | |||||||
DCC_chr18_52335197_53540899 | 53206332 | CATATATG others(79): Show |
C | intron_variant | MODIFIER | HG00735.hp2 HG02970.hp2 HG02976.hp2 others(3): Show |
a0001a0002a0003 | a0001c0005a0002c0012a0003c0006 | a0001c0005t0007a0001c0005t0011a0002c0012t0011others(1): Show | a0001c0005t0007g0108 a0001c0005t0007g0114 a0001c0005t0011g0045 others(3): Show |
6 | 114 | 0.0526 | -86 | c.172 others(104): Show |
DCC | ENSG00000187323.13 | transcript | ENST00000442544.7 | protein_coding | 10/28 | INFO_REALIGN_3_PRIME | chr18 | TogoVar |