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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
COL4A1_chr13_110143963_110312157 | 110255707 | A | AAGGCAGG others(1092): Show |
intron_variant | MODIFIER | HG03490.hp2 HG03492.hp1 |
a0002 | a0002c0023 | a0002c0023t0002 | a0002c0023t0002g0290 a0002c0023t0002g0291 |
2 | 344 | 0.0058 | 1099 | c.85- others(1116): Show |
COL4A1 | ENSG00000187498.16 | transcript | ENST00000375820.10 | protein_coding | 1/51 | chr13 | TogoVar | |||||||
DCDC2C_chr2_3698575_3853008 | 3725555 | C | CGGGGGAT others(1092): Show |
intron_variant | MODIFIER | HG02976.hp1 | a0001 | a0001c0005 | a0001c0005t0002 | a0001c0005t0002g0308 | 1 | 324 | 0.0031 | 1099 | c.340 others(1116): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DNAH17_chr17_78418697_78582396 | 78438429 | A | AGGAGGAG others(1092): Show |
intron_variant | MODIFIER | NA18979.hp2 | a0144 | a0144c0035 | a0144c0035t0001 | a0144c0035t0001g0213 | 1 | 252 | 0.0040 | 1099 | c.118 others(1118): Show |
DNAH17 | ENSG00000187775.17 | transcript | ENST00000389840.7 | protein_coding | 73/80 | chr17 | TogoVar | |||||||
FBXL14_chr12_1560993_1599581 | 1574397 | T | TGGGGGAG others(1092): Show |
intron_variant | MODIFIER | NA19043.hp1 | a0001 | a0001c0002 | a0001c0002t0016 | a0001c0002t0016g0274 | 1 | 418 | 0.0024 | 1099 | c.119 others(1118): Show |
FBXL14 | ENSG00000171823.7 | transcript | ENST00000339235.4 | protein_coding | 1/1 | chr12 | TogoVar | |||||||
HTRA3_chr4_8264754_8312098 | 8294624 | C | CCACCCAC others(1092): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp2 HG01346.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0237 a0001c0001t0001g0263 a0001c0001t0001g0265 |
3 | 388 | 0.0077 | 1099 | c.105 others(1116): Show |
HTRA3 | ENSG00000170801.10 | transcript | ENST00000307358.7 | protein_coding | 6/8 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
KLHDC4_chr16_87702812_87770986 | 87739065 | C | CCTCATCC others(1092): Show |
intron_variant | MODIFIER | HG00642.hp2 HG00733.hp2 HG00735.hp2 others(2): Show |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0003 a0001c0001t0001g0004 a0001c0001t0001g0074 others(2): Show |
5 | 380 | 0.0132 | 1099 | c.507 others(1116): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
KLHDC4_chr16_87702812_87770986 | 87739065 | C | CCTCATCC others(1092): Show |
intron_variant | MODIFIER | HG03927.hp1 NA19000.hp2 |
a0001 | a0001c0001a0001c0037 | a0001c0001t0001a0001c0037t0001 | a0001c0001t0001g0111 a0001c0037t0001g0126 |
2 | 380 | 0.0053 | 1099 | c.507 others(1116): Show |
KLHDC4 | ENSG00000104731.14 | transcript | ENST00000270583.10 | protein_coding | 5/11 | chr16 | TogoVar | |||||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1092): Show |
intron_variant | MODIFIER | HG00738.hp1 HG01074.hp1 HG01515.hp1 others(1): Show |
a0001 | a0001c0001a0001c0002 | a0001c0001t0007a0001c0001t0078a0001c0002t0036 | a0001c0001t0007g0006 a0001c0001t0007g0104 a0001c0001t0078g0076 others(1): Show |
4 | 108 | 0.0370 | 1099 | c.648 others(1118): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
LRRC7_chr1_69562922_70149364 | 69916142 | T | TATATATT others(1092): Show |
intron_variant | MODIFIER | HG03704.hp1 | a0001 | a0001c0005 | a0001c0005t0075 | a0001c0005t0075g0063 | 1 | 108 | 0.0093 | 1099 | c.648 others(1118): Show |
LRRC7 | ENSG00000033122.21 | transcript | ENST00000651989.2 | protein_coding | 7/26 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
MOCS1_chr6_39899170_39939462 | 39926745 | G | GAAGGAGG others(1092): Show |
intron_variant | MODIFIER | HG02965.hp1 | a0019 | a0019c0017 | a0019c0017t0008 | a0019c0017t0008g0113 | 1 | 272 | 0.0037 | 1099 | c.250 others(1114): Show |
MOCS1 | ENSG00000124615.20 | transcript | ENST00000340692.10 | protein_coding | 2/10 | chr6 | TogoVar | |||||||
NXN_chr17_794310_984776 | 952751 | G | GGGGGGGG others(1092): Show |
intron_variant | MODIFIER | NA18984.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0127 | 1 | 242 | 0.0041 | 1099 | c.360 others(1118): Show |
NXN | ENSG00000167693.17 | transcript | ENST00000336868.8 | protein_coding | 1/7 | chr17 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354509 | T | TATAGATT others(1092): Show |
intron_variant | MODIFIER | HG01928.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0115 | 1 | 346 | 0.0029 | 1099 | c.176 others(1118): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354509 | T | TATAGATT others(1092): Show |
intron_variant | MODIFIER | HG01167.hp2 | a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0093 | 1 | 346 | 0.0029 | 1099 | c.176 others(1118): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PJA2_chr5_109329722_109414974 | 109354509 | T | TATAGATT others(1092): Show |
intron_variant | MODIFIER | NA18960.hp2 NA19002.hp2 |
a0003 | a0003c0003 | a0003c0003t0002 | a0003c0003t0002g0086 a0003c0003t0002g0102 |
2 | 346 | 0.0058 | 1099 | c.176 others(1118): Show |
PJA2 | ENSG00000198961.10 | transcript | ENST00000361189.7 | protein_coding | 7/9 | chr5 | TogoVar | |||||||
PNMA6E_chrX_153390639_153406350 | 153391514 | G | GCACACTC others(1092): Show |
downstream_gene_variant | MODIFIER | HG02004.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0001 | 1 | 346 | 0.0029 | 1099 | c.*53 others(1110): Show |
PNMA6E | ENSG00000214897.5 | transcript | ENST00000445091.3 | protein_coding | 4124 | chrX | TogoVar | |||||||
ROBO2_chr3_77035099_77654964 | 77322942 | T | TTACATTA others(1092): Show |
intron_variant | MODIFIER | HG01516.hp2 | a0001 | a0001c0001 | a0001c0001t0045 | a0001c0001t0045g0072 | 1 | 160 | 0.0063 | 1099 | c.389 others(1120): Show |
ROBO2 | ENSG00000185008.19 | transcript | ENST00000696593.1 | protein_coding | 2/27 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
SIL1_chr5_138941724_139203368 | 139037106 | T | TAAAATTC others(1092): Show |
intron_variant | MODIFIER | HG02257.hp2 HG02970.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0023 a0001c0001t0001g0094 |
2 | 200 | 0.0100 | 1099 | c.453 others(1116): Show |
SIL1 | ENSG00000120725.13 | transcript | ENST00000394817.7 | protein_coding | 5/9 | chr5 | TogoVar | |||||||
TRAF6_chr11_36478769_36515272 | 36507342 | T | CGTATATA others(1092): Show |
intron_variant | MODIFIER | HG03486.hp2 | a0001 | a0001c0001 | a0001c0001t0059 | a0001c0001t0059g0230 | 1 | 388 | 0.0026 | 1099 | c.-23 others(1116): Show |
TRAF6 | ENSG00000175104.15 | transcript | ENST00000526995.6 | protein_coding | 1/6 | chr11 | TogoVar | |||||||
U2AF2_chr19_55650035_55679716 | 55670466 | C | CCGTGCAC others(1092): Show |
intron_variant | MODIFIER | HG00558.hp1 | a0001 | a0001c0002 | a0001c0002t0002 | a0001c0002t0002g0071 | 1 | 394 | 0.0025 | 1099 | c.129 others(1116): Show |
U2AF2 | ENSG00000063244.14 | transcript | ENST00000308924.9 | protein_coding | 11/11 | INFO_REALIGN_3_PRIME | chr19 | TogoVar | ||||||
UNC5C_chr4_95157504_95553973 | 95196757 | A | ATATATTT others(1092): Show |
intron_variant | MODIFIER | HG02922.hp1 | a0001 | a0001c0014 | a0001c0014t0001 | a0001c0014t0001g0194 | 1 | 204 | 0.0049 | 1099 | c.213 others(1118): Show |
UNC5C | ENSG00000182168.16 | transcript | ENST00000453304.6 | protein_coding | 12/15 | chr4 | TogoVar | |||||||
USP12_chr13_27061156_27176811 | 27063931 | A | AGGGAGGA others(1092): Show |
downstream_gene_variant | MODIFIER | HG01361.hp1 | a0001 | a0001c0001 | a0001c0001t0016 | a0001c0001t0016g0014 | 1 | 167 | 0.0060 | 1099 | c.*53 others(1110): Show |
USP12 | ENSG00000152484.14 | transcript | ENST00000282344.11 | protein_coding | 2224 | chr13 | TogoVar | |||||||
VCX2_chrX_8164944_8176267 | 8169533 | C | CCCTCCCT others(1092): Show |
downstream_gene_variant | MODIFIER | HG02683.hp1 | a0005 | a0005c0006 | a0005c0006t0002 | a0005c0006t0002g0011 | 1 | 115 | 0.0087 | 1099 | c.*49 others(1108): Show |
VCX2 | ENSG00000177504.10 | transcript | ENST00000317103.5 | protein_coding | 410 | chrX | TogoVar | |||||||
WDR25_chr14_100371485_100535303 | 100526932 | A | ATCACCAC others(1092): Show |
intron_variant | MODIFIER | NA19064.hp1 | a0002 | a0002c0005 | a0002c0005t0001 | a0002c0005t0001g0067 | 1 | 228 | 0.0044 | 1099 | c.127 others(1116): Show |
WDR25 | ENSG00000176473.14 | transcript | ENST00000402312.8 | protein_coding | 5/6 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
ABR_chr17_998519_1184981 | 1173198 | G | GCAACACA others(1093): Show |
intron_variant | MODIFIER | HG02572.hp1 | a0001 | a0001c0003 | a0001c0003t0016 | a0001c0003t0016g0163 | 1 | 337 | 0.0030 | 1100 | c.61+ others(1115): Show |
ABR | ENSG00000159842.16 | transcript | ENST00000302538.10 | protein_coding | 1/22 | chr17 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1093): Show |
intron_variant | MODIFIER | HG02683.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0113 | 1 | 242 | 0.0041 | 1100 | c.927 others(1117): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
ARHGAP19_chr10_97217179_97297637 | 97251500 | A | AAGGGGAA others(1093): Show |
intron_variant | MODIFIER | HG00639.hp1 HG02717.hp2 HG02896.hp2 |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0239 a0001c0001t0005g0241 a0001c0001t0005g0242 |
3 | 242 | 0.0124 | 1100 | c.927 others(1117): Show |
ARHGAP19 | ENSG00000213390.11 | transcript | ENST00000358531.9 | protein_coding | 6/11 | chr10 | TogoVar | |||||||
BTRC_chr10_101349165_101562313 | 101495840 | C | CATCCACC others(1093): Show |
intron_variant | MODIFIER | HG00673.hp1 HG02027.hp1 HG02523.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0086 a0001c0001t0005g0176 a0001c0001t0005g0206 others(3): Show |
6 | 266 | 0.0226 | 1100 | c.324 others(1119): Show |
BTRC | ENSG00000166167.18 | transcript | ENST00000370187.8 | protein_coding | 4/14 | INFO_REALIGN_3_PRIME | chr10 | TogoVar | ||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1093): Show |
intron_variant | MODIFIER | NA19087.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0079 | 1 | 326 | 0.0031 | 1100 | c.327 others(1117): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
C10orf67_chr10_23197696_23349797 | 23331548 | A | AGGGAAGG others(1093): Show |
intron_variant | MODIFIER | HG00280.hp2 HG00544.hp1 HG01081.hp2 others(6): Show |
a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0023 a0001c0002t0001g0047 a0001c0002t0001g0048 others(6): Show |
9 | 326 | 0.0276 | 1100 | c.327 others(1117): Show |
C10orf67 | ENSG00000179133.15 | transcript | ENST00000636213.3 | protein_coding | 2/15 | chr10 | TogoVar | |||||||
CACNA1C_chr12_2047987_2702950 | 2539393 | G | GGCAGGGT others(1093): Show |
intron_variant | MODIFIER | HG01358.hp1 HG02647.hp1 |
a0001 | a0001c0001a0001c0007 | a0001c0001t0017a0001c0007t0005 | a0001c0001t0017g0004 a0001c0007t0005g0002 |
2 | 104 | 0.0192 | 1100 | c.139 others(1121): Show |
CACNA1C | ENSG00000151067.23 | transcript | ENST00000399603.6 | protein_coding | 9/46 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
CELSR1_chr22_46356174_46542620 | 46366255 | A | AGAAAGGT others(1093): Show |
intron_variant | MODIFIER | HG01496.hp2 | a0017 | a0017c0061 | a0017c0061t0002 | a0017c0061t0002g0097 | 1 | 104 | 0.0096 | 1100 | c.830 others(1117): Show |
CELSR1 | ENSG00000075275.18 | transcript | ENST00000674500.2 | protein_coding | 30/34 | chr22 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1093): Show |
intron_variant | MODIFIER | NA19089.hp2 | a0052 | a0052c0040 | a0052c0040t0001 | a0052c0040t0001g0250 | 1 | 384 | 0.0026 | 1100 | c.273 others(1115): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CEP131_chr17_81184596_81227965 | 81207927 | A | ACCACACA others(1093): Show |
intron_variant | MODIFIER | HG02735.hp2 HG03239.hp1 HG03491.hp2 others(3): Show |
a0010a0034 | a0010c0012a0034c0074 | a0010c0012t0004a0034c0074t0004 | a0010c0012t0004g0335 a0010c0012t0004g0336 a0010c0012t0004g0337 others(3): Show |
6 | 384 | 0.0156 | 1100 | c.273 others(1115): Show |
CEP131 | ENSG00000141577.14 | transcript | ENST00000450824.7 | protein_coding | 3/25 | chr17 | TogoVar | |||||||
CROCC2_chr2_240901336_240998311 | 240924911 | G | GGCCCCCC others(1093): Show |
intron_variant | MODIFIER | NA18522.hp2 | a0013 | a0013c0013 | a0013c0013t0001 | a0013c0013t0001g0121 | 1 | 350 | 0.0029 | 1100 | c.489 others(1115): Show |
CROCC2 | ENSG00000226321.6 | transcript | ENST00000690015.1 | protein_coding | 4/31 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DCDC2C_chr2_3698575_3853008 | 3725439 | A | AAGACGAG others(1093): Show |
intron_variant | MODIFIER | HG02523.hp1 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0055 | 1 | 324 | 0.0031 | 1100 | c.340 others(1117): Show |
DCDC2C | ENSG00000214866.9 | transcript | ENST00000399143.9 | protein_coding | 2/10 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
DCLK2_chr4_150073445_150262438 | 150251268 | C | CCACACCC others(1093): Show |
intron_variant | MODIFIER | HG02129.hp1 | a0002 | a0002c0002 | a0002c0002t0004 | a0002c0002t0004g0052 | 1 | 116 | 0.0086 | 1100 | c.207 others(1119): Show |
DCLK2 | ENSG00000170390.16 | transcript | ENST00000296550.12 | protein_coding | 15/15 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
DDX51_chr12_132131594_132149319 | 132149006 | T | TACCACAC others(1093): Show |
upstream_gene_variant | MODIFIER | HG02148.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0026 | 1 | 334 | 0.0030 | 1100 | c.-47 others(1111): Show |
DDX51 | ENSG00000185163.10 | transcript | ENST00000397333.4 | protein_coding | 4688 | chr12 | TogoVar | |||||||
DIP2C_chr10_269201_694668 | 417622 | G | GCCTGTCA others(1093): Show |
intron_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0008 | a0001c0008t0001 | a0001c0008t0001g0019 | 1 | 88 | 0.0114 | 1100 | c.739 others(1117): Show |
DIP2C | ENSG00000151240.18 | transcript | ENST00000280886.12 | protein_coding | 6/36 | chr10 | TogoVar | |||||||
DIRAS1_chr19_2709567_2726372 | 2713562 | C | CCCTCACT others(1093): Show |
downstream_gene_variant | MODIFIER | HG01168.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0001 | 1 | 412 | 0.0024 | 1100 | c.*36 others(1111): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 1004 | chr19 | TogoVar | |||||||
DIRAS1_chr19_2709567_2726372 | 2714046 | C | CCCTCACT others(1093): Show |
downstream_gene_variant | MODIFIER | HG03195.hp2 | a0001 | a0001c0001 | a0001c0001t0039 | a0001c0001t0039g0048 | 1 | 412 | 0.0024 | 1100 | c.*31 others(1111): Show |
DIRAS1 | ENSG00000176490.5 | transcript | ENST00000323469.5 | protein_coding | 520 | chr19 | TogoVar | |||||||
DISP3_chr1_11474155_11542551 | 11522728 | G | GCCCAGCC others(1093): Show |
intron_variant | MODIFIER | HG02895.hp2 | a0004 | a0004c0010 | a0004c0010t0007 | a0004c0010t0007g0336 | 1 | 358 | 0.0028 | 1100 | c.236 others(1119): Show |
DISP3 | ENSG00000204624.8 | transcript | ENST00000294484.7 | protein_coding | 10/20 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
IL18R1_chr2_102350796_102403776 | 102352820 | A | AAATATAG others(1093): Show |
upstream_gene_variant | MODIFIER | NA18978.hp2 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0166 | 1 | 366 | 0.0027 | 1100 | c.-36 others(1111): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2975 | chr2 | TogoVar | |||||||
IL18R1_chr2_102350796_102403776 | 102352825 | A | AGTATATT others(1093): Show |
upstream_gene_variant | MODIFIER | NA21309.hp1 | a0001 | a0001c0001 | a0001c0001t0003 | a0001c0001t0003g0160 | 1 | 366 | 0.0027 | 1100 | c.-36 others(1111): Show |
IL18R1 | ENSG00000115604.12 | transcript | ENST00000233957.7 | protein_coding | 2970 | chr2 | TogoVar | |||||||
IQSEC3_chr12_61767_183455 | 163376 | C | CCACAGAA others(1093): Show |
intron_variant | MODIFIER | NA18994.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0277 | 1 | 282 | 0.0036 | 1100 | c.258 others(1117): Show |
IQSEC3 | ENSG00000120645.12 | transcript | ENST00000538872.6 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
KCNG2_chr18_79792938_79905100 | 79857063 | C | CGCCCCCA others(1093): Show |
intron_variant | MODIFIER | HG01099.hp1 | a0002 | a0002c0002 | a0002c0002t0002 | a0002c0002t0002g0092 | 1 | 312 | 0.0032 | 1100 | c.-41 others(1115): Show |
KCNG2 | ENSG00000178342.5 | transcript | ENST00000316249.4 | protein_coding | 2/3 | INFO_REALIGN_3_PRIME | chr18 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055103 | A | ATGCATAG others(1093): Show |
intron_variant | MODIFIER | HG03540.hp1 | a0001 | a0001c0002 | a0001c0002t0006 | a0001c0002t0006g0049 | 1 | 236 | 0.0042 | 1100 | c.193 others(1119): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LDLRAD3_chr11_35939062_36237136 | 36055103 | A | ATGCATAG others(1093): Show |
intron_variant | MODIFIER | HG02109.hp2 | a0001 | a0001c0002 | a0001c0002t0004 | a0001c0002t0004g0155 | 1 | 236 | 0.0042 | 1100 | c.193 others(1119): Show |
LDLRAD3 | ENSG00000179241.13 | transcript | ENST00000315571.6 | protein_coding | 2/5 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
LKAAEAR1_chr20_64078376_64089398 | 64088600 | T | TAGGATCT others(1093): Show |
upstream_gene_variant | MODIFIER | HG00741.hp1 HG01074.hp2 HG01192.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 3 | 102 | 0.0294 | 1100 | c.-43 others(1111): Show |
LKAAEAR1 | ENSG00000171695.11 | transcript | ENST00000302096.5 | protein_coding | 4203 | chr20 | TogoVar | |||||||
LKAAEAR1_chr20_64078376_64089398 | 64088874 | T | TGGCCAGG others(1093): Show |
upstream_gene_variant | MODIFIER | HG01169.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 102 | 0.0098 | 1100 | c.-46 others(1111): Show |
LKAAEAR1 | ENSG00000171695.11 | transcript | ENST00000302096.5 | protein_coding | 4477 | chr20 | TogoVar | |||||||
LKAAEAR1_chr20_64078376_64089398 | 64088874 | T | TGGCCAGG others(1093): Show |
upstream_gene_variant | MODIFIER | HG01934.hp2 HG03490.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 2 | 102 | 0.0196 | 1100 | c.-46 others(1111): Show |
LKAAEAR1 | ENSG00000171695.11 | transcript | ENST00000302096.5 | protein_coding | 4477 | chr20 | TogoVar |