| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| COX7B2_chr4_46729827_46914245 | 46794983 | TAAAGGAG others(2131): Show |
T | intron_variant | MODIFIER | HG01167.hp1 HG01261.hp1 HG01884.hp1 others(14): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(2): Show | a0001c0001t0001g0110 a0001c0001t0001g0111 a0001c0001t0001g0129 others(14): Show |
17 | 298 | 0.0570 | -2138 | c.-50 others(19): Show |
COX7B2 | ENSG00000170516.17 | transcript | ENST00000355591.8 | protein_coding | 2/2 | chr4 | TogoVar | |||||||
| FBXO47_chr17_38931432_38972403 | 38939340 | ATATATGT others(2129): Show |
A | intron_variant | MODIFIER | HG01109.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0024 | 1 | 342 | 0.0029 | -2136 | c.108 others(18): Show |
FBXO47 | ENSG00000204952.3 | transcript | ENST00000378079.3 | protein_coding | 9/10 | chr17 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1236235 | ATGGCACC others(2128): Show |
A | intron_variant | MODIFIER | HG01891.hp1 HG02895.hp2 HG02922.hp1 others(6): Show |
a0001a0002a0003others(1): Show | a0001c0002a0001c0003a0002c0001others(3): Show | a0001c0002t0001a0001c0002t0022a0001c0003t0013others(6): Show | a0001c0002t0001g0015 a0001c0002t0022g0034 a0001c0003t0013g0007 others(6): Show |
9 | 40 | 0.2250 | -2135 | c.74- others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| DOCK8_chr9_209865_470255 | 320127 | TCAGAGAT others(2128): Show |
T | intron_variant | MODIFIER | HG01175.hp1 HG01943.hp1 HG01993.hp2 others(5): Show |
a0001a0002a0023others(1): Show | a0001c0031a0002c0008a0002c0077others(2): Show | a0001c0031t0006a0002c0008t0001a0002c0077t0001others(2): Show | a0001c0031t0006g0127 a0002c0008t0001g0111 a0002c0008t0001g0112 others(5): Show |
8 | 254 | 0.0315 | -2135 | c.827 others(17): Show |
DOCK8 | ENSG00000107099.18 | transcript | ENST00000432829.7 | protein_coding | 7/47 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| SHTN1_chr10_116876477_117010187 | 116954579 | TAAATGTC others(2128): Show |
T | intron_variant | MODIFIER | NA19085.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0178 | 1 | 290 | 0.0034 | -2135 | c.268 others(16): Show |
SHTN1 | ENSG00000187164.20 | transcript | ENST00000355371.9 | protein_coding | 4/16 | chr10 | TogoVar | |||||||
| DLGAP2_chr8_732628_1713476 | 1236201 | TTCTCTCA others(2126): Show |
T | intron_variant | MODIFIER | HG00639.hp1 | a0001 | a0001c0002 | a0001c0002t0001 | a0001c0002t0001g0019 | 1 | 40 | 0.0250 | -2133 | c.74- others(17): Show |
DLGAP2 | ENSG00000198010.13 | transcript | ENST00000637795.2 | protein_coding | 2/14 | INFO_REALIGN_3_PRIME | chr8 | TogoVar | ||||||
| MBNL1_chr3_152263929_152470780 | 152406983 | TGTGTGTA others(2125): Show |
T | intron_variant | MODIFIER | HG01981.hp2 | a0001 | a0001c0001 | a0001c0001t0024 | a0001c0001t0024g0326 | 1 | 336 | 0.0030 | -2132 | c.175 others(17): Show |
MBNL1 | ENSG00000152601.18 | transcript | ENST00000324210.10 | protein_coding | 2/9 | INFO_REALIGN_3_PRIME | chr3 | TogoVar | ||||||
| ADAMTS17_chr15_99966437_100346975 | 100001822 | AGCCCCCC others(2123): Show |
A | intron_variant | MODIFIER | HG03486.hp1 NA18906.hp2 |
a0002 | a0002c0001a0002c0054 | a0002c0001t0024a0002c0054t0014 | a0002c0001t0024g0175 a0002c0054t0014g0002 |
2 | 226 | 0.0088 | -2130 | c.259 others(19): Show |
ADAMTS17 | ENSG00000140470.15 | transcript | ENST00000268070.9 | protein_coding | 18/21 | chr15 | TogoVar | |||||||
| CNTN5_chr11_99015949_100363885 | 99682918 | CAACCACA others(2123): Show |
C | intron_variant | MODIFIER | HG03471.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0029 | 1 | 66 | 0.0152 | -2130 | c.55+ others(19): Show |
CNTN5 | ENSG00000149972.12 | transcript | ENST00000524871.6 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr11 | TogoVar | ||||||
| FAM47A_chrX_34124752_34137314 | 34135184 | TTCTTATA others(2123): Show |
T | upstream_gene_variant | MODIFIER | HG01123.hp1 | a0003 | a0003c0003 | a0003c0003t0001 | a0003c0003t0001g0000 | 1 | 322 | 0.0031 | -2130 | c.-50 others(11): Show |
FAM47A | ENSG00000185448.12 | transcript | ENST00000346193.5 | protein_coding | 2871 | chrX | TogoVar | |||||||
| SLC12A7_chr5_1045384_1117063 | 1070235 | GAGCCCCC others(2123): Show |
G | intron_variant | MODIFIER | NA18943.hp2 | a0001 | a0001c0013 | a0001c0013t0003 | a0001c0013t0003g0047 | 1 | 117 | 0.0085 | -2130 | c.224 others(19): Show |
SLC12A7 | ENSG00000113504.21 | transcript | ENST00000264930.10 | protein_coding | 17/23 | chr5 | TogoVar | |||||||
| MBD3L4_chr19_7032749_7045179 | 7043051 | CTCCTGAC others(2121): Show |
C | upstream_gene_variant | MODIFIER | NA18968.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 262 | 0.0038 | -2128 | c.-50 others(11): Show |
MBD3L4 | ENSG00000205718.10 | transcript | ENST00000381394.9 | protein_coding | 2873 | chr19 | TogoVar | |||||||
| PCSK5_chr9_75885673_76367975 | 76304610 | CATTTTAG others(2121): Show |
C | intron_variant | MODIFIER | HG01192.hp1 HG02723.hp1 HG02738.hp1 others(5): Show |
a0001a0002a0007others(4): Show | a0001c0049a0002c0017a0007c0015others(5): Show | a0001c0049t0013a0002c0017t0002a0007c0015t0001others(5): Show | a0001c0049t0013g0120 a0002c0017t0002g0065 a0007c0015t0001g0060 others(5): Show |
8 | 164 | 0.0488 | -2128 | c.360 others(19): Show |
PCSK5 | ENSG00000099139.14 | transcript | ENST00000674117.1 | protein_coding | 28/37 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| PKHD1_chr6_51610299_52092613 | 51802408 | ACATGAGG others(2120): Show |
A | intron_variant | MODIFIER | HG02055.hp1 HG02280.hp1 HG02486.hp1 others(4): Show |
a0002a0004a0006others(3): Show | a0002c0005a0004c0006a0006c0076others(3): Show | a0002c0005t0002a0004c0006t0002a0006c0076t0005others(3): Show | a0002c0005t0002g0021 a0004c0006t0002g0046 a0004c0006t0002g0054 others(4): Show |
7 | 132 | 0.0530 | -2127 | c.830 others(21): Show |
PKHD1 | ENSG00000170927.15 | transcript | ENST00000371117.8 | protein_coding | 52/66 | chr6 | TogoVar | |||||||
| MTHFD1L_chr6_150860702_151106887 | 151077867 | CGGTGAAA others(2118): Show |
C | intron_variant | MODIFIER | HG03579.hp2 | a0001 | a0001c0001 | a0001c0001t0004 | a0001c0001t0004g0081 | 1 | 224 | 0.0045 | -2125 | c.284 others(21): Show |
MTHFD1L | ENSG00000120254.16 | transcript | ENST00000367321.8 | protein_coding | 26/27 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| RAC2_chr22_37220270_37249269 | 37247146 | CCATGTTG others(2116): Show |
C | upstream_gene_variant | MODIFIER | HG03017.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0001 | 1 | 446 | 0.0022 | -2123 | c.-51 others(11): Show |
RAC2 | ENSG00000128340.16 | transcript | ENST00000249071.11 | protein_coding | 2878 | chr22 | TogoVar | |||||||
| ZNF337_chr20_25668195_25701853 | 25699128 | ATTTATTT others(2116): Show |
A | upstream_gene_variant | MODIFIER | HG02572.hp1 | a0002 | a0002c0002 | a0002c0002t0003 | a0002c0002t0003g0007 | 1 | 364 | 0.0027 | -2123 | c.-45 others(11): Show |
ZNF337 | ENSG00000130684.14 | transcript | ENST00000252979.6 | protein_coding | 2276 | chr20 | TogoVar | |||||||
| PDE7B_chr6_135846701_136200574 | 136159995 | TTTAGGGT others(2113): Show |
T | intron_variant | MODIFIER | HG03209.hp2 | a0001 | a0001c0002 | a0001c0002t0018 | a0001c0002t0018g0002 | 1 | 140 | 0.0071 | -2120 | c.711 others(17): Show |
PDE7B | ENSG00000171408.14 | transcript | ENST00000308191.11 | protein_coding | 8/12 | chr6 | TogoVar | |||||||
| DHRSX_chrX_2214506_2505976 | 2277660 | AGAGGGAG others(2111): Show |
A | intron_variant | MODIFIER | HG01167.hp1 | a0007 | a0007c0007 | a0007c0007t0001 | a0007c0007t0001g0024 | 1 | 45 | 0.0222 | -2118 | c.388 others(19): Show |
DHRSX | ENSG00000169084.15 | transcript | ENST00000334651.11 | protein_coding | 4/6 | chrX | TogoVar | |||||||
| DNAJC3_chr13_95672139_95799988 | 95765697 | GAGTAGCT others(2111): Show |
G | intron_variant | MODIFIER | HG01175.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0008 | 1 | 372 | 0.0027 | -2118 | c.107 others(19): Show |
DNAJC3 | ENSG00000102580.15 | transcript | ENST00000602402.6 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chr13 | TogoVar | ||||||
| MED6_chr14_70578221_70605655 | 70580454 | ATTGGATG others(2111): Show |
A | downstream_gene_variant | MODIFIER | HG00621.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0043 | 1 | 404 | 0.0025 | -2118 | c.*22 others(11): Show |
MED6 | ENSG00000133997.12 | transcript | ENST00000256379.10 | protein_coding | 2766 | chr14 | TogoVar | |||||||
| PEX13_chr2_61012720_61056990 | 61054874 | TCAGCCTC others(2109): Show |
T | downstream_gene_variant | MODIFIER | HG02895.hp2 HG02897.hp2 HG03139.hp1 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0019 a0001c0001t0001g0048 |
3 | 352 | 0.0085 | -2116 | c.*61 others(11): Show |
PEX13 | ENSG00000162928.9 | transcript | ENST00000295030.6 | protein_coding | 2885 | chr2 | TogoVar | |||||||
| RAP1GAP2_chr17_2791438_3042741 | 2942780 | ATTTTTGA others(2108): Show |
A | intron_variant | MODIFIER | HG02602.hp1 | a0001 | a0001c0004 | a0001c0004t0007 | a0001c0004t0007g0132 | 1 | 216 | 0.0046 | -2115 | c.166 others(19): Show |
RAP1GAP2 | ENSG00000132359.17 | transcript | ENST00000254695.13 | protein_coding | 3/24 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| MKLN1_chr7_131322876_131501632 | 131393971 | ATTTTATG others(2107): Show |
A | intron_variant | MODIFIER | HG02109.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0259 | 1 | 318 | 0.0031 | -2114 | c.401 others(17): Show |
MKLN1 | ENSG00000128585.18 | transcript | ENST00000352689.11 | protein_coding | 4/17 | chr7 | TogoVar | |||||||
| NMBR_chr6_142069484_142152122 | 142093992 | ATGGGGTT others(2105): Show |
A | intron_variant | MODIFIER | HG02886.hp1 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0170 | 1 | 328 | 0.0030 | -2112 | c.-66 others(19): Show |
NMBR | ENSG00000135577.5 | transcript | ENST00000258042.2 | protein_coding | 1/3 | chr6 | TogoVar | |||||||
| HS6ST2_chrX_132621015_132963629 | 132805403 | GGCCCAAC others(2104): Show |
G | intron_variant | MODIFIER | HG01516.hp1 HG01517.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0132 a0001c0001t0001g0140 |
2 | 201 | 0.0100 | -2111 | c.948 others(19): Show |
HS6ST2 | ENSG00000171004.19 | transcript | ENST00000370833.7 | protein_coding | 2/4 | chrX | TogoVar | |||||||
| PDE5A_chr4_119489403_119633804 | 119631693 | GGAGATTC others(2104): Show |
G | upstream_gene_variant | MODIFIER | HG00738.hp2 HG02486.hp2 HG03130.hp1 |
a0002 | a0002c0006 | a0002c0006t0017a0002c0006t0029 | a0002c0006t0017g0154 a0002c0006t0017g0155 a0002c0006t0029g0153 |
3 | 334 | 0.0090 | -2111 | c.-51 others(11): Show |
PDE5A | ENSG00000138735.16 | transcript | ENST00000354960.8 | protein_coding | 2890 | chr4 | TogoVar | |||||||
| SLC4A10_chr2_161619416_161990270 | 161841917 | TAAATTTA others(2104): Show |
T | intron_variant | MODIFIER | NA18522.hp1 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0045 | 1 | 116 | 0.0086 | -2111 | c.416 others(17): Show |
SLC4A10 | ENSG00000144290.17 | transcript | ENST00000446997.6 | protein_coding | 4/26 | INFO_REALIGN_3_PRIME | chr2 | TogoVar | ||||||
| RIPK1_chr6_3063494_3120187 | 3092120 | CGCAGCGC others(2101): Show |
C | intron_variant | MODIFIER | HG01074.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0221 | 1 | 338 | 0.0030 | -2108 | c.915 others(17): Show |
RIPK1 | ENSG00000137275.16 | transcript | ENST00000259808.9 | protein_coding | 7/10 | INFO_REALIGN_3_PRIME | chr6 | TogoVar | ||||||
| SRRM4_chr12_118976541_119168051 | 119002903 | GTTTACAC others(2100): Show |
G | intron_variant | MODIFIER | HG00408.hp1 HG00438.hp2 HG00544.hp2 others(16): Show |
a0001a0002a0005others(1): Show | a0001c0001a0002c0002a0005c0005others(1): Show | a0001c0001t0004a0001c0001t0005a0001c0001t0011others(9): Show | a0001c0001t0004g0167 a0001c0001t0005g0128 a0001c0001t0005g0129 others(16): Show |
19 | 326 | 0.0583 | -2107 | c.131 others(19): Show |
SRRM4 | ENSG00000139767.10 | transcript | ENST00000267260.5 | protein_coding | 1/12 | INFO_REALIGN_3_PRIME | chr12 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744870 | CCCCGGGG others(2099): Show |
C | intron_variant | MODIFIER | HG01243.hp1 HG03471.hp2 |
a0001 | a0001c0001 | a0001c0001t0023 | a0001c0001t0023g0284 a0001c0001t0023g0288 |
2 | 363 | 0.0055 | -2106 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744895 | CTCGCCGT others(2099): Show |
C | intron_variant | MODIFIER | HG01517.hp1 HG01884.hp1 HG02056.hp1 others(1): Show |
a0001 | a0001c0001a0001c0005 | a0001c0001t0001a0001c0005t0017 | a0001c0001t0001g0208 a0001c0001t0001g0214 a0001c0001t0001g0219 others(1): Show |
4 | 342 | 0.0117 | -2106 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| MSI2_chr17_57251523_57689689 | 57610448 | TCTAAAAA others(2098): Show |
T | intron_variant | MODIFIER | HG00280.hp1 HG00280.hp2 HG00408.hp2 others(78): Show |
a0001 | a0001c0001a0001c0002a0001c0004 | a0001c0001t0001a0001c0001t0002a0001c0001t0003others(52): Show | a0001c0001t0001g0019 a0001c0001t0001g0025 a0001c0001t0001g0045 others(78): Show |
81 | 166 | 0.4880 | -2105 | c.538 others(17): Show |
MSI2 | ENSG00000153944.12 | transcript | ENST00000284073.7 | protein_coding | 8/13 | INFO_REALIGN_3_PRIME | chr17 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744874 | GGGGTCGC others(2098): Show |
G | intron_variant | MODIFIER | HG02132.hp2 NA18962.hp1 NA18967.hp1 |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0007 | a0001c0001t0001g0213 a0001c0001t0007g0005 |
3 | 361 | 0.0083 | -2105 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744927 | CCCGGGGG others(2098): Show |
C | intron_variant | MODIFIER | NA18942.hp2 NA18963.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0199 a0001c0001t0001g0207 |
2 | 362 | 0.0055 | -2105 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PCGF3_chr4_700832_775089 | 744984 | CCCGGGGG others(2098): Show |
C | intron_variant | MODIFIER | HG01070.hp2 HG01071.hp2 |
a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0275 a0001c0001t0001g0276 |
2 | 340 | 0.0059 | -2105 | c.462 others(16): Show |
PCGF3 | ENSG00000185619.19 | transcript | ENST00000362003.10 | protein_coding | 8/10 | INFO_REALIGN_3_PRIME | chr4 | TogoVar | ||||||
| PTPRR_chr12_70633079_70925738 | 70807537 | TAGTTCAG others(2097): Show |
T | intron_variant | MODIFIER | NA21309.hp1 | a0003 | a0003c0012 | a0003c0012t0001 | a0003c0012t0001g0182 | 1 | 201 | 0.0050 | -2104 | c.358 others(19): Show |
PTPRR | ENSG00000153233.13 | transcript | ENST00000283228.7 | protein_coding | 2/13 | chr12 | TogoVar | |||||||
| TRIM67_chr1_231157058_231226565 | 231184145 | GAGACTCA others(2097): Show |
G | intron_variant | MODIFIER | HG02055.hp2 HG02486.hp1 HG02647.hp1 others(3): Show |
a0001a0004 | a0001c0004a0004c0025 | a0001c0004t0010a0004c0025t0010 | a0001c0004t0010g0011 a0001c0004t0010g0017 a0001c0004t0010g0018 others(3): Show |
6 | 352 | 0.0170 | -2104 | c.104 others(21): Show |
TRIM67 | ENSG00000119283.16 | transcript | ENST00000366653.6 | protein_coding | 1/9 | INFO_REALIGN_3_PRIME | chr1 | TogoVar | ||||||
| FANCM_chr14_45130930_45205890 | 45141836 | GCCTCAGC others(2096): Show |
G | intron_variant | MODIFIER | HG01891.hp1 HG02976.hp2 |
a0010 | a0010c0014 | a0010c0014t0001 | a0010c0014t0001g0137 a0010c0014t0001g0138 |
2 | 236 | 0.0085 | -2103 | c.759 others(17): Show |
FANCM | ENSG00000187790.12 | transcript | ENST00000267430.10 | protein_coding | 3/22 | INFO_REALIGN_3_PRIME | chr14 | TogoVar | ||||||
| ASMTL_chrX_1398139_1457909 | 1408124 | GCAGGAGG others(2093): Show |
G | intron_variant | MODIFIER | HG00323.hp2 HG00408.hp1 HG00733.hp1 others(12): Show |
a0001a0002a0003others(2): Show | a0001c0008a0002c0003a0002c0004others(5): Show | a0001c0008t0001a0002c0003t0002a0002c0004t0001others(5): Show | a0001c0008t0001g0045 a0002c0003t0002g0034 a0002c0003t0002g0035 others(12): Show |
15 | 88 | 0.1705 | -2100 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | |||||||
| ASMTL_chrX_1398139_1457909 | 1408156 | GCAACACT others(2093): Show |
G | intron_variant | MODIFIER | HG01346.hp1 HG01934.hp1 |
a0001 | a0001c0001a0001c0008 | a0001c0001t0001a0001c0008t0001 | a0001c0001t0001g0089 a0001c0008t0001g0160 |
2 | 167 | 0.0120 | -2100 | c.164 others(19): Show |
ASMTL | ENSG00000169093.16 | transcript | ENST00000381317.9 | protein_coding | 12/12 | chrX | TogoVar | |||||||
| C1QTNF1_chr17_79019169_79054788 | 79052690 | AAGGTCAG others(2091): Show |
A | downstream_gene_variant | MODIFIER | HG02622.hp1 HG03540.hp1 NA18522.hp1 |
a0001 | a0001c0003a0001c0005 | a0001c0003t0014a0001c0005t0028 | a0001c0003t0014g0207 a0001c0003t0014g0209 a0001c0005t0028g0192 |
3 | 390 | 0.0077 | -2098 | c.*46 others(11): Show |
C1QTNF1 | ENSG00000173918.15 | transcript | ENST00000579760.6 | protein_coding | 2903 | chr17 | TogoVar | |||||||
| RAB11FIP3_chr16_420649_528011 | 435700 | CTTTGCAC others(2091): Show |
C | intron_variant | MODIFIER | NA18942.hp2 NA18964.hp2 NA18990.hp1 others(3): Show |
a0001 | a0001c0001 | a0001c0001t0001a0001c0001t0003a0001c0001t0012 | a0001c0001t0001g0277 a0001c0001t0001g0278 a0001c0001t0001g0279 others(3): Show |
6 | 294 | 0.0204 | -2098 | c.714 others(18): Show |
RAB11FIP3 | ENSG00000090565.17 | transcript | ENST00000262305.9 | protein_coding | 1/13 | INFO_REALIGN_3_PRIME | chr16 | TogoVar | ||||||
| RNF223_chr1_1065967_1079306 | 1076432 | CCGGGAGG others(2091): Show |
C | upstream_gene_variant | MODIFIER | NA18747.hp1 | a0002 | a0002c0003 | a0002c0003t0002 | a0002c0003t0002g0004 | 1 | 222 | 0.0045 | -2098 | c.-45 others(11): Show |
RNF223 | ENSG00000237330.3 | transcript | ENST00000453464.3 | protein_coding | 2127 | chr1 | TogoVar | |||||||
| IGLL5_chr22_22882816_22901111 | 22899016 | CAACATGA others(2088): Show |
C | downstream_gene_variant | MODIFIER | HG03927.hp2 | a0001 | a0001c0001 | a0001c0001t0005 | a0001c0001t0005g0006 | 1 | 300 | 0.0033 | -2095 | c.*33 others(11): Show |
IGLL5 | ENSG00000254709.8 | transcript | ENST00000526893.6 | protein_coding | 2906 | chr22 | TogoVar | |||||||
| DDX17_chr22_38478438_38511311 | 38509217 | ACAAGAAA others(2087): Show |
A | upstream_gene_variant | MODIFIER | HG02896.hp1 | a0001 | a0001c0001 | a0001c0001t0008 | a0001c0001t0008g0118 | 1 | 362 | 0.0028 | -2094 | c.-50 others(11): Show |
DDX17 | ENSG00000100201.23 | transcript | ENST00000403230.3 | protein_coding | 2907 | chr22 | TogoVar | |||||||
| GAL3ST2_chr2_241771822_241809287 | 241805556 | ACCCTCCC others(2087): Show |
A | downstream_gene_variant | MODIFIER | HG01952.hp2 | a0001 | a0001c0001 | a0001c0001t0001 | a0001c0001t0001g0006 | 1 | 175 | 0.0057 | -2094 | c.*13 others(11): Show |
GAL3ST2 | ENSG00000154252.12 | transcript | ENST00000192314.7 | protein_coding | 1270 | chr2 | TogoVar | |||||||
| IL3RA_chrX_1331785_1387689 | 1369490 | CCTCCAGC others(2087): Show |
C | intron_variant | MODIFIER | NA19000.hp2 | a0001 | a0001c0001 | a0001c0001t0002 | a0001c0001t0002g0040 | 1 | 113 | 0.0088 | -2094 | c.874 others(17): Show |
IL3RA | ENSG00000185291.12 | transcript | ENST00000331035.10 | protein_coding | 9/11 | INFO_REALIGN_3_PRIME | chrX | TogoVar | ||||||
| MAMDC2_chr9_70038848_70231972 | 70146890 | ACGCCACT others(2087): Show |
A | intron_variant | MODIFIER | HG00673.hp1 HG00738.hp1 HG00741.hp2 others(31): Show |
a0001a0003a0007 | a0001c0001a0003c0004a0007c0012 | a0001c0001t0004a0001c0001t0006a0003c0004t0003others(2): Show | a0001c0001t0004g0015 a0001c0001t0004g0016 a0001c0001t0004g0019 others(31): Show |
34 | 338 | 0.1006 | -2094 | c.140 others(19): Show |
MAMDC2 | ENSG00000165072.10 | transcript | ENST00000377182.5 | protein_coding | 9/13 | INFO_REALIGN_3_PRIME | chr9 | TogoVar | ||||||
| NEU4_chr2_241804193_241822413 | 241805556 | ACCCTCCC others(2087): Show |
A | upstream_gene_variant | MODIFIER | HG01952.hp1 | a0001 | a0001c0004 | a0001c0004t0001 | a0001c0004t0001g0071 | 1 | 184 | 0.0054 | -2094 | c.-37 others(11): Show |
NEU4 | ENSG00000204099.12 | transcript | ENST00000407683.6 | protein_coding | 3636 | chr2 | TogoVar |