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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
HRAS_chr11_527242_540576 | 531062 | C | CGAGTGTG others(1057): Show |
downstream_gene_variant | MODIFIER | HG00597.hp1 HG01167.hp2 HG01169.hp1 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0002a0001c0002t0014 | a0001c0002t0002g0004 a0001c0002t0014g0041 |
9 | 336 | 0.0268 | 1064 | c.*14 others(1075): Show |
HRAS | ENSG00000174775.18 | transcript | ENST00000311189.8 | protein_coding | 1179 | chr11 | TogoVar | |||||||
HRAS_chr11_527242_540576 | 531062 | C | CGAGTGTG others(1057): Show |
downstream_gene_variant | MODIFIER | NA18747.hp1 NA19064.hp2 |
a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 2 | 329 | 0.0061 | 1064 | c.*14 others(1075): Show |
HRAS | ENSG00000174775.18 | transcript | ENST00000311189.8 | protein_coding | 1179 | chr11 | TogoVar | |||||||
HRAS_chr11_527242_540576 | 531062 | C | CGAGTGTG others(1057): Show |
downstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 328 | 0.0030 | 1064 | c.*14 others(1075): Show |
HRAS | ENSG00000174775.18 | transcript | ENST00000311189.8 | protein_coding | 1179 | chr11 | TogoVar | |||||||
HRAS_chr11_527242_540576 | 531062 | C | CGAGTGTG others(1057): Show |
downstream_gene_variant | MODIFIER | HG00280.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0004 | 1 | 328 | 0.0030 | 1064 | c.*14 others(1075): Show |
HRAS | ENSG00000174775.18 | transcript | ENST00000311189.8 | protein_coding | 1179 | chr11 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9400249 | T | TCCCCTCC others(1057): Show |
downstream_gene_variant | MODIFIER | HG03831.hp2 | a0001 | a0001c0001 | a0001c0001t0029 | a0001c0001t0029g0132 | 1 | 124 | 0.0081 | 1064 | c.*65 others(1075): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 3225 | chr2 | TogoVar | |||||||
ITGB1BP1_chr2_9398475_9428528 | 9406452 | A | AGGCTTCC others(1057): Show |
3_prime_UTR_variant | MODIFIER | HG01358.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0127 | 1 | 143 | 0.0070 | 1064 | c.*38 others(1073): Show |
ITGB1BP1 | ENSG00000119185.13 | transcript | ENST00000355346.9 | protein_coding | 7/7 | 381 | chr2 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055103 | A | ATGCATAG others(1057): Show |
intron_variant | MODIFIER | HG00099.hp1 HG00642.hp1 HG01070.hp1 others(5): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0004others(2): Show | a0001c0001t0001g0103 a0001c0001t0002g0104 a0001c0001t0002g0195 others(5): Show |
8 | 227 | 0.0352 | 1064 | c.193 others(1083): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LMF1_chr16_848634_975984 | 953742 | C | CTCCTGCA others(1057): Show |
intron_variant | MODIFIER | HG02559.hp2 | a0001 | a0001c0006 | a0001c0006t0001 | a0001c0006t0001g0290 | 1 | 235 | 0.0043 | 1064 | c.503 others(1079): Show |
LMF1 | ENSG00000103227.19 | transcript | ENST00000262301.16 | protein_coding | 2/10 | chr16 | TogoVar | |||||||
LRRC7_chr1_69562922_70149364 | 69916109 | T | TATATATA others(1057): Show |
intron_variant | MODIFIER | NA19240.hp2 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0032 | 1 | 74 | 0.0135 | 1064 | c.648 others(1083): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916110 | A | ATATATAT others(1057): Show |
intron_variant | MODIFIER | NA20752.hp1 | a0001 | a0001c0001 | a0001c0001t0083 | a0001c0001t0083g0044 | 1 | 106 | 0.0094 | 1064 | c.648 others(1083): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MFRP_chr11_119333942_119351705 | 119351510 | C | CCTCCTCT others(1057): Show |
upstream_gene_variant | MODIFIER | HG02293.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0168 | 1 | 125 | 0.0080 | 1064 | c.-49 others(1075): Show |
MFRP | ENSG00000235718.9 | transcript | ENST00000619721.6 | protein_coding | 4806 | chr11 | TogoVar | |||||||
MYO18B_chr22_25737188_26036045 | 25820045 | G | GAACTGTT others(1057): Show |
intron_variant | MODIFIER | HG02280.hp1 HG02970.hp1 |
a0006a0009 | a0006c0084a0009c0083 | a0006c0084t0001a0009c0083t0001 | a0006c0084t0001g0089 a0009c0083t0001g0088 |
2 | 103 | 0.0194 | 1064 | c.252 others(1083): Show |
MYO18B | ENSG00000133454.16 | transcript | ENST00000335473.12 | protein_coding | 12/43 | INFO_REALIGN_3_PRIME | chr22 | TogoVar | ||||||
NPHP4_chr1_5857811_5997425 | 5977904 | A | AGAAGAGA others(1057): Show |
intron_variant | MODIFIER | NA18971.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0113 | 1 | 4 | 0.2500 | 1064 | c.279 others(1079): Show |
NPHP4 | ENSG00000131697.18 | transcript | ENST00000378156.9 | protein_coding | 3/29 | chr1 | TogoVar | |||||||
OPRPN_chr4_70392940_70415195 | 70413191 | A | ATGTATAT others(1057): Show |
downstream_gene_variant | MODIFIER | HG03225.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0030 | 1 | 135 | 0.0074 | 1064 | c.*31 others(1075): Show |
OPRPN | ENSG00000171199.11 | transcript | ENST00000399575.7 | protein_coding | 2997 | chr4 | TogoVar | |||||||
PAK2_chr3_196734857_196837647 | 196811293 | C | CTCCCTCC others(1057): Show |
intron_variant | MODIFIER | HG03225.hp1 | a0001 | a0001c0001 | a0001c0001t0041 | a0001c0001t0041g0046 | 1 | 84 | 0.0119 | 1064 | c.773 others(1079): Show |
PAK2 | ENSG00000180370.10 | transcript | ENST00000327134.7 | protein_coding | 8/14 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 309615 | T | TGGCCGCC others(1057): Show |
intron_variant | MODIFIER | HG02809.hp2 HG06807.hp1 |
a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0086 a0001c0001t0002g0087 |
2 | 321 | 0.0062 | 1064 | c.368 others(1081): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 309615 | T | TGGCCGCC others(1057): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0085 | 1 | 320 | 0.0031 | 1064 | c.368 others(1081): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 309747 | C | CCCAGTGA others(1057): Show |
intron_variant | MODIFIER | HG02273.hp2 HG02559.hp2 HG03486.hp1 |
a0001 | a0001c0001 | a0001c0001t0002a0001c0001t0003 | a0001c0001t0002g0070 a0001c0001t0002g0074 a0001c0001t0003g0071 |
3 | 340 | 0.0088 | 1064 | c.368 others(1081): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDCD6_chr5_266646_319974 | 309747 | C | CCCAGTGA others(1057): Show |
intron_variant | MODIFIER | HG02818.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0076 | 1 | 338 | 0.0030 | 1064 | c.368 others(1081): Show |
PDCD6 | ENSG00000249915.9 | transcript | ENST00000264933.9 | protein_coding | 4/5 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
PDE3B_chr11_14638804_14877044 | 14841725 | A | ACACCTTC others(1057): Show |
intron_variant | MODIFIER | NA19083.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0240 | 1 | 95 | 0.0105 | 1064 | c.232 others(1083): Show |
PDE3B | ENSG00000152270.9 | transcript | ENST00000282096.9 | protein_coding | 11/15 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
RPH3AL_chr17_207389_357807 | 273611 | A | AGAGACCC others(1057): Show |
intron_variant | MODIFIER | NA18983.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0080 | 1 | 124 | 0.0081 | 1064 | c.438 others(1081): Show |
RPH3AL | ENSG00000181031.16 | transcript | ENST00000331302.12 | protein_coding | 6/9 | chr17 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414469 | G | GCTGGGTG others(1057): Show |
intron_variant | MODIFIER | NA18951.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0235 | 1 | 110 | 0.0091 | 1064 | c.115 others(1081): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
SLC6A3_chr5_1387794_1450440 | 1414469 | G | GCTGGGTG others(1057): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0236 | 1 | 110 | 0.0091 | 1064 | c.115 others(1081): Show |
SLC6A3 | ENSG00000142319.18 | transcript | ENST00000270349.12 | protein_coding | 8/14 | chr5 | TogoVar | |||||||
TERT_chr5_1248167_1300068 | 1273451 | C | CACGACCG others(1057): Show |
intron_variant | MODIFIER | HG02165.hp2 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0048 | 1 | 130 | 0.0077 | 1064 | c.228 others(1083): Show |
TERT | ENSG00000164362.21 | transcript | ENST00000310581.10 | protein_coding | 6/15 | chr5 | TogoVar | |||||||
TRAPPC12_chr2_3374694_3484565 | 3437337 | C | CCACCCCT others(1057): Show |
intron_variant | MODIFIER | HG00738.hp2 | a0005 | a0005c0037 | a0005c0037t0002 | a0005c0037t0002g0072 | 1 | 213 | 0.0047 | 1064 | c.141 others(1083): Show |
TRAPPC12 | ENSG00000171853.16 | transcript | ENST00000324266.10 | protein_coding | 5/11 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
USP2_chr11_119350215_119386690 | 119351510 | C | CCTCCTCT others(1057): Show |
downstream_gene_variant | MODIFIER | HG00099.hp2 | a0001 | a0001c0002 | a0001c0002t0003 | a0001c0002t0003g0052 | 1 | 2 | 0.5000 | 1064 | c.*53 others(1075): Show |
USP2 | ENSG00000036672.16 | transcript | ENST00000260187.7 | protein_coding | 3704 | chr11 | TogoVar | |||||||
VEZF1_chr17_57966552_57993254 | 57969305 | G | GCACTTTG others(1057): Show |
downstream_gene_variant | MODIFIER | HG03540.hp2 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0031 | 1 | 119 | 0.0084 | 1064 | c.*51 others(1075): Show |
VEZF1 | ENSG00000136451.9 | transcript | ENST00000581208.2 | protein_coding | 2246 | chr17 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1058): Show |
intron_variant | MODIFIER | HG00408.hp2 HG00558.hp1 HG02451.hp2 others(7): Show |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(1): Show | a0001c0001t0001g0216 a0001c0001t0001g0218 a0001c0001t0002g0223 others(7): Show |
10 | 12 | 0.8333 | 1065 | c.787 others(1080): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1058): Show |
intron_variant | MODIFIER | HG01192.hp2 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0031 | 1 | 3 | 0.3333 | 1065 | c.787 others(1080): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1058): Show |
intron_variant | MODIFIER | NA18994.hp2 | a0002 | a0002c0002 | a0002c0002t0001 | a0002c0002t0001g0040 | 1 | 3 | 0.3333 | 1065 | c.787 others(1080): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1058): Show |
intron_variant | MODIFIER | NA18964.hp2 NA18990.hp2 NA19084.hp2 |
a0001a0002 | a0001c0001a0002c0002 | a0001c0001t0002a0001c0001t0003a0002c0002t0002 | a0001c0001t0002g0185 a0001c0001t0003g0184 a0002c0002t0002g0039 |
3 | 5 | 0.6000 | 1065 | c.787 others(1080): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ARHGAP18_chr6_129571132_129715177 | 129619468 | G | GGGGGAGG others(1058): Show |
intron_variant | MODIFIER | HG00609.hp1 HG00609.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002 | a0001c0001t0001g0071 a0001c0001t0002g0093 |
2 | 4 | 0.5000 | 1065 | c.787 others(1080): Show |
ARHGAP18 | ENSG00000146376.11 | transcript | ENST00000368149.3 | protein_coding | 5/14 | chr6 | TogoVar | |||||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(1058): Show |
intron_variant | MODIFIER | HG03209.hp1 | a0001 | a0001c0001 | a0001c0001t0012 | a0001c0001t0012g0154 | 1 | 152 | 0.0066 | 1065 | c.217 others(1084): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(1058): Show |
intron_variant | MODIFIER | HG02738.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0144 | 1 | 152 | 0.0066 | 1065 | c.217 others(1084): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(1058): Show |
intron_variant | MODIFIER | HG03516.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0162 | 1 | 152 | 0.0066 | 1065 | c.217 others(1084): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
ATG10_chr5_81967023_82261133 | 82140209 | C | CGCCCGGC others(1058): Show |
intron_variant | MODIFIER | HG00597.hp1 | a0002 | a0002c0002 | a0002c0002t0030 | a0002c0002t0030g0089 | 1 | 152 | 0.0066 | 1065 | c.217 others(1084): Show |
ATG10 | ENSG00000152348.16 | transcript | ENST00000282185.8 | protein_coding | 3/7 | INFO_REALIGN_3_PRIME | chr5 | TogoVar | ||||||
AZU1_chr19_822837_837018 | 835500 | G | GCAGCCCC others(1058): Show |
downstream_gene_variant | MODIFIER | HG02300.hp2 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0013 | 1 | 296 | 0.0034 | 1065 | c.*36 others(1076): Show |
AZU1 | ENSG00000172232.10 | transcript | ENST00000233997.4 | protein_coding | 3483 | chr19 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1058): Show |
intron_variant | MODIFIER | HG02145.hp1 HG02559.hp2 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0004 | a0001c0001t0001g0138 a0001c0001t0004g0139 |
2 | 11 | 0.1818 | 1065 | c.327 others(1082): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1058): Show |
intron_variant | MODIFIER | HG02258.hp2 HG02717.hp1 |
a0005 | a0005c0044a0005c0083 | a0005c0044t0001a0005c0083t0001 | a0005c0044t0001g0066 a0005c0083t0001g0035 |
2 | 9 | 0.2222 | 1065 | c.328 others(1082): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CFAP74_chr1_1916957_2008786 | 1929384 | G | GGAGGGGA others(1058): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0001 | a0001c0003 | a0001c0003t0001 | a0001c0003t0001g0088 | 1 | 8 | 0.1250 | 1065 | c.328 others(1082): Show |
CFAP74 | ENSG00000142609.20 | transcript | ENST00000682832.2 | protein_coding | 26/38 | chr1 | TogoVar | |||||||
CHTF18_chr16_783620_803074 | 795593 | T | TGCTGCCC others(1058): Show |
intron_variant | MODIFIER | HG00544.hp2 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0074 | 1 | 8 | 0.1250 | 1065 | c.217 others(1080): Show |
CHTF18 | ENSG00000127586.17 | transcript | ENST00000262315.14 | protein_coding | 16/21 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
CRTC3_chr15_90524923_90650345 | 90647246 | T | TCAATCCT others(1058): Show |
downstream_gene_variant | MODIFIER | HG02258.hp1 | a0001 | a0001c0001 | a0001c0001t0006 | a0001c0001t0006g0051 | 1 | 241 | 0.0041 | 1065 | c.*51 others(1076): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1902 | chr15 | TogoVar | |||||||
CRTC3_chr15_90524923_90650345 | 90647275 | A | ACAATCCT others(1058): Show |
downstream_gene_variant | MODIFIER | HG01255.hp2 HG02735.hp1 HG03688.hp1 |
a0001a0003 | a0001c0001a0003c0003 | a0001c0001t0001a0003c0003t0001 | a0001c0001t0001g0043 a0001c0001t0001g0046 a0003c0003t0001g0045 |
3 | 219 | 0.0137 | 1065 | c.*51 others(1076): Show |
CRTC3 | ENSG00000140577.17 | transcript | ENST00000268184.11 | protein_coding | 1931 | chr15 | TogoVar | |||||||
GNG13_chr16_793041_805734 | 795593 | T | TGCTGCCC others(1058): Show |
downstream_gene_variant | MODIFIER | HG00544.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 8 | 0.1250 | 1065 | c.*31 others(1076): Show |
GNG13 | ENSG00000127588.5 | transcript | ENST00000248150.5 | protein_coding | 2447 | chr16 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399225 | A | ACCACCGC others(1058): Show |
intron_variant | MODIFIER | HG03239.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0071 | 1 | 300 | 0.0033 | 1065 | c.-25 others(1082): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399225 | A | ACCACCGC others(1058): Show |
intron_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0097 | 1 | 300 | 0.0033 | 1065 | c.-25 others(1082): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
HPCAL1_chr2_10297904_10432604 | 10399423 | A | ACCACCAC others(1058): Show |
intron_variant | MODIFIER | HG02622.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0022 | 1 | 287 | 0.0035 | 1065 | c.-25 others(1082): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | chr2 | TogoVar | |||||||
HPCAL1_chr2_10297904_10432604 | 10399424 | T | TCATCACC others(1058): Show |
intron_variant | MODIFIER | NA18612.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0089 | 1 | 174 | 0.0057 | 1065 | c.-25 others(1082): Show |
HPCAL1 | ENSG00000115756.13 | transcript | ENST00000307845.8 | protein_coding | 2/4 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
ICA1_chr7_8108184_8267167 | 8152561 | C | CACCACCA others(1058): Show |
intron_variant | MODIFIER | HG03017.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0212 | 1 | 255 | 0.0039 | 1065 | c.804 others(1082): Show |
ICA1 | ENSG00000003147.19 | transcript | ENST00000402384.8 | protein_coding | 8/13 | chr7 | TogoVar | |||||||
KIF3B_chr20_32272651_32340011 | 32322994 | A | ATATTTAT others(1058): Show |
intron_variant | MODIFIER | HG00621.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0195 | 1 | 240 | 0.0042 | 1065 | c.174 others(1084): Show |
KIF3B | ENSG00000101350.8 | transcript | ENST00000375712.4 | protein_coding | 5/8 | INFO_REALIGN_3_PRIME | chr20 | TogoVar |